diff --git a/.tests/integration/custom-test/results/custom-test/annotation/custom.html b/.tests/integration/custom-test/results/custom-test/annotation/custom.html deleted file mode 100644 index a8ed45d..0000000 --- a/.tests/integration/custom-test/results/custom-test/annotation/custom.html +++ /dev/null @@ -1,209 +0,0 @@ - - - VEP summary - - - - - - - - -
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- Ensembl -
- -
- VEP -
-
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-
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Links

VEP run statistics

VEP version (API) 109 (109)
Annotation sourcesCache: resources/vep/cache/homo_sapiens/111_GRCh38
Specieshomo_sapiens
Command line options
--assembly GRCh38 --cache  --cache_version 111 --dir_cache resources/vep/cache --dir_plugins resources/vep/plugins --everything --fasta resources/refs/genome.fasta --fork 4 --format vcf --offline --output_file STDOUT --plugin NMD, --plugin Wildtype, --plugin Downstream, --species homo_sapiens --stats_file results/custom-test/annotation/custom.html --vcf
Start time2024-05-17 20:37:54
End time2024-05-17 20:37:58
Run time4 seconds
Input fileSTDIN
Output fileSTDOUT

General statistics

Lines of input read934
Variants processed934
Variants filtered out0
Novel / existing variants225 (24.1) / 709 (75.9)
Overlapped genes88
Overlapped transcripts288
Overlapped regulatory features73

Variant classes

 
 

Consequences (most severe)

 
 

Consequences (all)

 
 

Coding consequences

 
 

SIFT summary

 
 

PolyPhen summary

 
 

Variants by chromosome

 
 

Distribution of variants on chromosome chr1

 

Distribution of variants on chromosome chr2

 

Distribution of variants on chromosome chr8

 

Distribution of variants on chromosome chrMT

 

Position in protein

 
-
- diff --git a/.tests/integration/custom-test/results/custom-test/annotation/custom.vcf b/.tests/integration/custom-test/results/custom-test/annotation/custom.vcf deleted file mode 100644 index 808aa1a..0000000 --- a/.tests/integration/custom-test/results/custom-test/annotation/custom.vcf +++ /dev/null @@ -1,1050 +0,0 @@ -##fileformat=VCFv4.2 -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##GATKCommandLine= -##GATKCommandLine= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##MutectVersion=2.2 -##bcftools_concatCommand=concat -O z -a -o results/indel-test/rnaseq/indel/mutect2/s001_variants.vcf.gz results/indel-test/rnaseq/indel/mutect2/s001_variants/chr21_flt.vcf.gz results/indel-test/rnaseq/indel/mutect2/s001_variants/chr11_flt.vcf.gz results/indel-test/rnaseq/indel/mutect2/s001_variants/chr9_flt.vcf.gz results/indel-test/rnaseq/indel/mutect2/s001_variants/chr6_flt.vcf.gz results/indel-test/rnaseq/indel/mutect2/s001_variants/chr3_flt.vcf.gz results/indel-test/rnaseq/indel/mutect2/s001_variants/chr12_flt.vcf.gz results/indel-test/rnaseq/indel/mutect2/s001_variants/chr10_flt.vcf.gz results/indel-test/rnaseq/indel/mutect2/s001_variants/chrMT_flt.vcf.gz results/indel-test/rnaseq/indel/mutect2/s001_variants/chr13_flt.vcf.gz results/indel-test/rnaseq/indel/mutect2/s001_variants/chr8_flt.vcf.gz results/indel-test/rnaseq/indel/mutect2/s001_variants/chr14_flt.vcf.gz results/indel-test/rnaseq/indel/mutect2/s001_variants/chr5_flt.vcf.gz results/indel-test/rnaseq/indel/mutect2/s001_variants/chr2_flt.vcf.gz results/indel-test/rnaseq/indel/mutect2/s001_variants/chr22_flt.vcf.gz results/indel-test/rnaseq/indel/mutect2/s001_variants/chr19_flt.vcf.gz results/indel-test/rnaseq/indel/mutect2/s001_variants/chr20_flt.vcf.gz results/indel-test/rnaseq/indel/mutect2/s001_variants/chr17_flt.vcf.gz results/indel-test/rnaseq/indel/mutect2/s001_variants/chr18_flt.vcf.gz results/indel-test/rnaseq/indel/mutect2/s001_variants/chr16_flt.vcf.gz results/indel-test/rnaseq/indel/mutect2/s001_variants/chr7_flt.vcf.gz results/indel-test/rnaseq/indel/mutect2/s001_variants/chr4_flt.vcf.gz results/indel-test/rnaseq/indel/mutect2/s001_variants/chrX_flt.vcf.gz results/indel-test/rnaseq/indel/mutect2/s001_variants/chr1_flt.vcf.gz results/indel-test/rnaseq/indel/mutect2/s001_variants/chrY_flt.vcf.gz results/indel-test/rnaseq/indel/mutect2/s001_variants/chr15_flt.vcf.gz; Date=Fri May 17 17:54:12 2024 -##bcftools_concatVersion=1.9+htslib-1.9 -##bcftools_viewCommand=view -O z -o results/indel-test/rnaseq/indel/mutect2/s001_variants/chr21_flt.vcf.gz; Date=Fri May 17 17:31:38 2024 -##bcftools_viewVersion=1.9+htslib-1.9 -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##filtering_status=These calls have been filtered by FilterMutectCalls to label false positives with a list of failed filters and true positives with PASS. -##reference=file:///projects/b1171/sej9799/ScanNeo2_test/ScanNeo2/resources/refs/genome.fasta -##source=FilterMutectCalls -##source=SelectVariants -##tumor_sample=unknown -##INFO= -##INFO= -##bcftools_viewCommand=view -O z -o results/indel-test/rnaseq/indel/mutect2/s001_somatic.snvs.vcf.gz; Date=Fri May 17 17:54:16 2024 -##bcftools_viewCommand=view -O z -o results/custom-test/variants/custom.vcf.gz; Date=Fri May 17 20:36:53 2024 -##bcftools_viewVersion=1.16+htslib-1.20 -##bcftools_viewCommand=view results/custom-test/variants/custom.vcf.gz; Date=Fri May 17 20:37:53 2024 -##VEP="v109" time="2024-05-17 20:37:54" cache="resources/vep/cache/homo_sapiens/111_GRCh38" ensembl-funcgen=109.cba2db8 ensembl=109.10baaec ensembl-io=109.4946a86 ensembl-variation=109.18a12b6 1000genomes="phase3" COSMIC="98" ClinVar="202306" HGMD-PUBLIC="20204" assembly="GRCh38.p14" dbSNP="156" gencode="GENCODE 45" genebuild="2014-07" gnomADe="r2.1.1" gnomADg="v3.1.2" polyphen="2.2.3" regbuild="1.0" sift="6.2.1" -##INFO= -##NMD=Nonsense-mediated mRNA decay escaping variants prediction -##WildtypeProtein=The normal, non-mutated protein sequence -##DownstreamProtein=Predicted downstream translation for frameshift mutations -##ProteinLengthChange=Predicted change in protein product length -##VEP-command-line='vep --assembly GRCh38 --cache --cache_version 111 --database 0 --dir_cache [PATH]/cache --dir_plugins [PATH]/plugins --everything --fasta [PATH]/genome.fasta --fork 4 --format vcf --offline --output_file STDOUT --plugin NMD, --plugin Wildtype, --plugin Downstream, --vcf' -##bcftools_viewCommand=view -Ov; Date=Fri May 17 20:37:54 2024 -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT unknown -chr1 187102 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=5;ECNT=1;GERMQ=52;MBQ=0,34;MFRL=0,0;MMQ=60,33;MPOS=11;POPAF=7.3;TLOD=14.08;SRC=custom;GRP=custom;CSQ=G|downstream_gene_variant|MODIFIER|MIR6859-2|ENSG00000273874|Transcript|ENST00000612080|miRNA||||||||||rs1221392627|789|-1||SNV|HGNC|HGNC:49954|YES||||||||||||||||||||||||||||||||0.4577|0.4973|0.4637|0.4473|0.4448|0.3969|0.4094|0.4113|0.446|0.4559|0.4219|0.4973|gnomADg_AFR|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|WASH9P|ENSG00000279457|Transcript|ENST00000623083|unprocessed_pseudogene||7/9|ENST00000623083.4:n.1041+27G>C|||||||rs1221392627||-1||SNV|HGNC|HGNC:53981|YES||||||||||||||||||||||||||||||||0.4577|0.4973|0.4637|0.4473|0.4448|0.3969|0.4094|0.4113|0.446|0.4559|0.4219|0.4973|gnomADg_AFR|||||||||||||,G|downstream_gene_variant|MODIFIER|DDX11L17|ENSG00000279928|Transcript|ENST00000624431|unprocessed_pseudogene||||||||||rs1221392627|2928|1||SNV|HGNC|HGNC:55080|YES||||||||||||||||||||||||||||||||0.4577|0.4973|0.4637|0.4473|0.4448|0.3969|0.4094|0.4113|0.446|0.4559|0.4219|0.4973|gnomADg_AFR|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344295|CTCF_binding_site||||||||||rs1221392627||||SNV|||||||||||||||||||||||||||||||||||0.4577|0.4973|0.4637|0.4473|0.4448|0.3969|0.4094|0.4113|0.446|0.4559|0.4219|0.4973|gnomADg_AFR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.764:4:0,0:0,2:0,2:0,0,2,2 -chr1 190768 . G A . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,22;MPOS=92;POPAF=7.3;TLOD=5.05;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER|MIR6859-2|ENSG00000273874|Transcript|ENST00000612080|miRNA||||||||||rs1342012641|2810|-1||SNV|HGNC|HGNC:49954|YES||||||||||||||||||||||||||||||||0.5012|0.4809|0.5106|0.508|0.5146|0.5136|0.506|0.5|0.5074|0.5107|0.5194|0.5194|gnomADg_SAS|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|WASH9P|ENSG00000279457|Transcript|ENST00000623083|unprocessed_pseudogene||1/9|ENST00000623083.4:n.150-1866C>T|||||||rs1342012641||-1||SNV|HGNC|HGNC:53981|YES||||||||||||||||||||||||||||||||0.5012|0.4809|0.5106|0.508|0.5146|0.5136|0.506|0.5|0.5074|0.5107|0.5194|0.5194|gnomADg_SAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 733895 . G T . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,21;MFRL=0,0;MMQ=60,25;MPOS=37;POPAF=7.3;TLOD=3.63;SRC=custom;GRP=custom;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000414688|lncRNA|||||||||||1683|-1||SNV||||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000291215|Transcript|ENST00000506640|lncRNA||14/15|ENST00000506640.3:n.2492-531C>A|||||||||-1||SNV|||YES|||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.128-34936C>A|||||||||-1||SNV|||YES|||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.101-21973C>A|||||||||-1||SNV||||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000648019|lncRNA|||||||||||831|-1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344376|CTCF_binding_site||||||||||||||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164781|enhancer||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 778051 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=1%2C2|1%2C1;DP=5;ECNT=3;GERMQ=38;MBQ=31,33;MFRL=0,0;MMQ=60,56;MPOS=55;POPAF=7.3;TLOD=6.38;SRC=custom;GRP=custom;CSQ=C|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000412115|lncRNA||||||||||rs1181211008|696|1||SNV|HGNC|HGNC:50701|YES|||3|||||||||||||||||||||||||||||1.973e-05|0|0|0|0|0|0|0|4.411e-05|0|0|4.411e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000228327|Transcript|ENST00000428504|transcribed_unprocessed_pseudogene||||||||||rs1181211008|3771|-1||SNV|||YES||||||||||||||||||||||||||||||||1.973e-05|0|0|0|0|0|0|0|4.411e-05|0|0|4.411e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000429505|lncRNA||||||||||rs1181211008|709|1||SNV|HGNC|HGNC:50701||||3|||||||||||||||||||||||||||||1.973e-05|0|0|0|0|0|0|0|4.411e-05|0|0|4.411e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000434264|lncRNA||||||||||rs1181211008|719|1||SNV|HGNC|HGNC:50701||||5|||||||||||||||||||||||||||||1.973e-05|0|0|0|0|0|0|0|4.411e-05|0|0|4.411e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000443772|lncRNA||||||||||rs1181211008|921|1||SNV|HGNC|HGNC:50701||||3|||||||||||||||||||||||||||||1.973e-05|0|0|0|0|0|0|0|4.411e-05|0|0|4.411e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000457084|lncRNA||||||||||rs1181211008|731|1||SNV|HGNC|HGNC:50701||||4|||||||||||||||||||||||||||||1.973e-05|0|0|0|0|0|0|0|4.411e-05|0|0|4.411e-05|gnomADg_NFE|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000291215|Transcript|ENST00000506640|lncRNA||1/15|ENST00000506640.3:n.380+233A>G|||||||rs1181211008||-1||SNV|||YES|||5|||||||||||||||||||||||||||||1.973e-05|0|0|0|0|0|0|0|4.411e-05|0|0|4.411e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000589899|lncRNA||||||||||rs1181211008|879|1||SNV|HGNC|HGNC:50701||||5|||||||||||||||||||||||||||||1.973e-05|0|0|0|0|0|0|0|4.411e-05|0|0|4.411e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000609830|lncRNA||||||||||rs1181211008|886|1||SNV|HGNC|HGNC:50701||||5|||||||||||||||||||||||||||||1.973e-05|0|0|0|0|0|0|0|4.411e-05|0|0|4.411e-05|gnomADg_NFE|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+49619A>G|||||||rs1181211008||-1||SNV|||YES|||5|||||||||||||||||||||||||||||1.973e-05|0|0|0|0|0|0|0|4.411e-05|0|0|4.411e-05|gnomADg_NFE|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+49619A>G|||||||rs1181211008||-1||SNV||||||5|||||||||||||||||||||||||||||1.973e-05|0|0|0|0|0|0|0|4.411e-05|0|0|4.411e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000285268|Transcript|ENST00000644482|transcribed_processed_pseudogene||||||||||rs1181211008|3886|1||SNV|||YES||||||||||||||||||||||||||||||||1.973e-05|0|0|0|0|0|0|0|4.411e-05|0|0|4.411e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000651411|lncRNA||||||||||rs1181211008|798|1||SNV|HGNC|HGNC:50701|||||||||||||||||||||||||||||||||1.973e-05|0|0|0|0|0|0|0|4.411e-05|0|0|4.411e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000655765|lncRNA||||||||||rs1181211008|696|1||SNV|HGNC|HGNC:50701|||||||||||||||||||||||||||||||||1.973e-05|0|0|0|0|0|0|0|4.411e-05|0|0|4.411e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000656571|lncRNA||||||||||rs1181211008|751|1||SNV|HGNC|HGNC:50701|||||||||||||||||||||||||||||||||1.973e-05|0|0|0|0|0|0|0|4.411e-05|0|0|4.411e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000657896|lncRNA||||||||||rs1181211008|709|1||SNV|HGNC|HGNC:50701|||||||||||||||||||||||||||||||||1.973e-05|0|0|0|0|0|0|0|4.411e-05|0|0|4.411e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000658648|lncRNA||||||||||rs1181211008|745|1||SNV|HGNC|HGNC:50701|||||||||||||||||||||||||||||||||1.973e-05|0|0|0|0|0|0|0|4.411e-05|0|0|4.411e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000665719|lncRNA||||||||||rs1181211008|761|1||SNV|HGNC|HGNC:50701|||||||||||||||||||||||||||||||||1.973e-05|0|0|0|0|0|0|0|4.411e-05|0|0|4.411e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000665867|lncRNA||||||||||rs1181211008|758|1||SNV|HGNC|HGNC:50701|||||||||||||||||||||||||||||||||1.973e-05|0|0|0|0|0|0|0|4.411e-05|0|0|4.411e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000666217|lncRNA||||||||||rs1181211008|761|1||SNV|HGNC|HGNC:50701|||||||||||||||||||||||||||||||||1.973e-05|0|0|0|0|0|0|0|4.411e-05|0|0|4.411e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000669749|lncRNA||||||||||rs1181211008|758|1||SNV|HGNC|HGNC:50701|||||||||||||||||||||||||||||||||1.973e-05|0|0|0|0|0|0|0|4.411e-05|0|0|4.411e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000670700|lncRNA||||||||||rs1181211008|707|1||SNV|HGNC|HGNC:50701|||||||||||||||||||||||||||||||||1.973e-05|0|0|0|0|0|0|0|4.411e-05|0|0|4.411e-05|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291215|Transcript|ENST00000692781|lncRNA|1/1||ENST00000692781.2:n.638A>G||638|||||rs1181211008||-1||SNV|||||||||||||||||||||||||||||||||||1.973e-05|0|0|0|0|0|0|0|4.411e-05|0|0|4.411e-05|gnomADg_NFE|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000081|promoter||||||||||rs1181211008||||SNV|||||||||||||||||||||||||||||||||||1.973e-05|0|0|0|0|0|0|0|4.411e-05|0|0|4.411e-05|gnomADg_NFE||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,2:0.4:5:0,0:1,1:2,1:1,2,1,1 -chr1 778906 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|2%2C1;DP=5;ECNT=2;GERMQ=37;MBQ=35,32;MFRL=0,0;MMQ=38,32;MPOS=45;POPAF=7.3;TLOD=9.25;SRC=custom;GRP=custom;CSQ=T|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000412115|lncRNA|1/5||ENST00000412115.2:n.160G>T||160|||||||1||SNV|HGNC|HGNC:50701|YES|||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000228327|Transcript|ENST00000428504|transcribed_unprocessed_pseudogene|||||||||||4626|-1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000429505|lncRNA|1/4||ENST00000429505.6:n.147G>T||147|||||||1||SNV|HGNC|HGNC:50701||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000434264|lncRNA|1/3||ENST00000434264.6:n.137G>T||137|||||||1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000443772|lncRNA|||||||||||66|1||SNV|HGNC|HGNC:50701||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000457084|lncRNA|1/2||ENST00000457084.1:n.125G>T||125|||||||1||SNV|HGNC|HGNC:50701||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291215|Transcript|ENST00000506640|lncRNA|||||||||||243|-1||SNV|||YES|||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000589899|lncRNA|||||||||||24|1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000609830|lncRNA|||||||||||31|1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+48764C>A|||||||||-1||SNV|||YES|||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+48764C>A|||||||||-1||SNV||||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000285268|Transcript|ENST00000644482|transcribed_processed_pseudogene|||||||||||3031|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000651411|lncRNA|1/4||ENST00000651411.1:n.58G>T||58|||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000655765|lncRNA|1/3||ENST00000655765.1:n.160G>T||160|||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000656571|lncRNA|1/5||ENST00000656571.1:n.105G>T||105|||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000657896|lncRNA|1/4||ENST00000657896.1:n.147G>T||147|||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000658648|lncRNA|1/5||ENST00000658648.1:n.111G>T||111|||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000665719|lncRNA|1/5||ENST00000665719.1:n.95G>T||95|||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000665867|lncRNA|1/2||ENST00000665867.1:n.98G>T||98|||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000666217|lncRNA|1/4||ENST00000666217.1:n.95G>T||95|||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000669749|lncRNA|1/4||ENST00000669749.1:n.98G>T||98|||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000670700|lncRNA|1/5||ENST00000670700.1:n.149G>T||149|||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291215|Transcript|ENST00000692781|lncRNA|||||||||||218|-1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000081|promoter||||||||||||||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00208067917|||||||||||||-1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||ENSPFM0303|10|N|-0.005|HOXB13::TBX3||||,T|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00205928640|||||||||||||-1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||ENSPFM0530|14|N|0.019|TEAD4::ELK1||||,T|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00010921924|||||||||||||-1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||ENSPFM0160|17|Y|-0.031|ETV2::RFX5|||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,3:0.6:5:0,0:1,2:1,2:1,1,2,1 -chr1 778906 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C0|1%2C1;DP=3;ECNT=1;GERMQ=38;MBQ=34,34;MFRL=0,0;MMQ=32,33;MPOS=88;POPAF=7.3;TLOD=6.78;SRC=custom;GRP=custom;CSQ=T|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000412115|lncRNA|1/5||ENST00000412115.2:n.160G>T||160|||||||1||SNV|HGNC|HGNC:50701|YES|||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000228327|Transcript|ENST00000428504|transcribed_unprocessed_pseudogene|||||||||||4626|-1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000429505|lncRNA|1/4||ENST00000429505.6:n.147G>T||147|||||||1||SNV|HGNC|HGNC:50701||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000434264|lncRNA|1/3||ENST00000434264.6:n.137G>T||137|||||||1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000443772|lncRNA|||||||||||66|1||SNV|HGNC|HGNC:50701||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000457084|lncRNA|1/2||ENST00000457084.1:n.125G>T||125|||||||1||SNV|HGNC|HGNC:50701||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291215|Transcript|ENST00000506640|lncRNA|||||||||||243|-1||SNV|||YES|||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000589899|lncRNA|||||||||||24|1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000609830|lncRNA|||||||||||31|1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+48764C>A|||||||||-1||SNV|||YES|||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+48764C>A|||||||||-1||SNV||||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000285268|Transcript|ENST00000644482|transcribed_processed_pseudogene|||||||||||3031|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000651411|lncRNA|1/4||ENST00000651411.1:n.58G>T||58|||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000655765|lncRNA|1/3||ENST00000655765.1:n.160G>T||160|||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000656571|lncRNA|1/5||ENST00000656571.1:n.105G>T||105|||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000657896|lncRNA|1/4||ENST00000657896.1:n.147G>T||147|||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000658648|lncRNA|1/5||ENST00000658648.1:n.111G>T||111|||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000665719|lncRNA|1/5||ENST00000665719.1:n.95G>T||95|||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000665867|lncRNA|1/2||ENST00000665867.1:n.98G>T||98|||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000666217|lncRNA|1/4||ENST00000666217.1:n.95G>T||95|||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000669749|lncRNA|1/4||ENST00000669749.1:n.98G>T||98|||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000670700|lncRNA|1/5||ENST00000670700.1:n.149G>T||149|||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291215|Transcript|ENST00000692781|lncRNA|||||||||||218|-1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000081|promoter||||||||||||||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00208067917|||||||||||||-1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||ENSPFM0303|10|N|-0.005|HOXB13::TBX3||||,T|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00205928640|||||||||||||-1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||ENSPFM0530|14|N|0.019|TEAD4::ELK1||||,T|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00010921924|||||||||||||-1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||ENSPFM0160|17|Y|-0.031|ETV2::RFX5|||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,2:0.5:3:0,0:1,1:1,1:1,0,1,1 -chr1 778984 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C0|1%2C1;DP=3;ECNT=2;GERMQ=38;MBQ=35,32;MFRL=0,0;MMQ=30,32;MPOS=123;POPAF=7.3;TLOD=6.37;SRC=custom;GRP=custom;CSQ=A|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000412115|lncRNA|1/5||ENST00000412115.2:n.238G>A||238|||||||1||SNV|HGNC|HGNC:50701|YES|||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000228327|Transcript|ENST00000428504|transcribed_unprocessed_pseudogene|||||||||||4704|-1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000429505|lncRNA|1/4||ENST00000429505.6:n.225G>A||225|||||||1||SNV|HGNC|HGNC:50701||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000434264|lncRNA|1/3||ENST00000434264.6:n.215G>A||215|||||||1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000443772|lncRNA|1/4||ENST00000443772.2:n.13G>A||13|||||||1||SNV|HGNC|HGNC:50701||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000457084|lncRNA|1/2||ENST00000457084.1:n.203G>A||203|||||||1||SNV|HGNC|HGNC:50701||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000291215|Transcript|ENST00000506640|lncRNA|||||||||||321|-1||SNV|||YES|||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000589899|lncRNA|1/4||ENST00000589899.5:n.55G>A||55|||||||1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000609830|lncRNA|1/4||ENST00000609830.1:n.48G>A||48|||||||1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+48686C>T|||||||||-1||SNV|||YES|||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+48686C>T|||||||||-1||SNV||||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000285268|Transcript|ENST00000644482|transcribed_processed_pseudogene|||||||||||2953|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000651411|lncRNA|1/4||ENST00000651411.1:n.136G>A||136|||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000655765|lncRNA|1/3||ENST00000655765.1:n.238G>A||238|||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000656571|lncRNA|1/5||ENST00000656571.1:n.183G>A||183|||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000657896|lncRNA|1/4||ENST00000657896.1:n.225G>A||225|||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000658648|lncRNA|1/5||ENST00000658648.1:n.189G>A||189|||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000665719|lncRNA|1/5||ENST00000665719.1:n.173G>A||173|||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000665867|lncRNA|1/2||ENST00000665867.1:n.176G>A||176|||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000666217|lncRNA|1/4||ENST00000666217.1:n.173G>A||173|||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000669749|lncRNA|1/4||ENST00000669749.1:n.176G>A||176|||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000670700|lncRNA|1/5||ENST00000670700.1:n.227G>A||227|||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000291215|Transcript|ENST00000692781|lncRNA|||||||||||296|-1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000081|promoter||||||||||||||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00191868652|||||||||||||-1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||ENSPFM0238|13|N|-0.024|GCM1::MAX||||,A|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00193197821|||||||||||||1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||ENSPFM0597|20|N|-0.004|TFAP2C::MAX|||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,2:0.5:3:0,0:1,1:1,1:1,0,1,1 -chr1 779196 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4%2C5|1%2C1;DP=11;ECNT=1;GERMQ=47;MBQ=33,33;MFRL=0,0;MMQ=53,60;MPOS=59;POPAF=7.3;TLOD=5.83;SRC=custom;GRP=custom;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000412115|lncRNA||1/4|ENST00000412115.2:n.346+104G>T|||||||||1||SNV|HGNC|HGNC:50701|YES|||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000228327|Transcript|ENST00000428504|transcribed_unprocessed_pseudogene|||||||||||4916|-1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000429505|lncRNA||1/3|ENST00000429505.6:n.333+104G>T|||||||||1||SNV|HGNC|HGNC:50701||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000434264|lncRNA||1/2|ENST00000434264.6:n.323+104G>T|||||||||1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000443772|lncRNA||1/3|ENST00000443772.2:n.121+104G>T|||||||||1||SNV|HGNC|HGNC:50701||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000457084|lncRNA||1/1|ENST00000457084.1:n.311+104G>T|||||||||1||SNV|HGNC|HGNC:50701||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291215|Transcript|ENST00000506640|lncRNA|||||||||||533|-1||SNV|||YES|||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000589899|lncRNA||1/3|ENST00000589899.5:n.163+104G>T|||||||||1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000609830|lncRNA||1/3|ENST00000609830.1:n.156+104G>T|||||||||1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+48474C>A|||||||||-1||SNV|||YES|||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+48474C>A|||||||||-1||SNV||||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000285268|Transcript|ENST00000644482|transcribed_processed_pseudogene|||||||||||2741|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000651411|lncRNA||1/3|ENST00000651411.1:n.244+104G>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000655765|lncRNA||1/2|ENST00000655765.1:n.346+104G>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000656571|lncRNA||1/4|ENST00000656571.1:n.291+104G>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000657896|lncRNA||1/3|ENST00000657896.1:n.333+104G>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000658648|lncRNA||1/4|ENST00000658648.1:n.297+104G>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000665719|lncRNA||1/4|ENST00000665719.1:n.281+104G>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000665867|lncRNA||1/1|ENST00000665867.1:n.284+104G>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000666217|lncRNA||1/3|ENST00000666217.1:n.281+104G>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000669749|lncRNA||1/3|ENST00000669749.1:n.284+104G>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000670700|lncRNA||1/4|ENST00000670700.1:n.335+104G>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291215|Transcript|ENST00000692781|lncRNA|||||||||||508|-1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000081|promoter||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:9,2:0.25:11:1,0:3,1:5,1:4,5,1,1 -chr1 779380 . G T . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C1|2%2C2;DP=5;ECNT=1;GERMQ=40;MBQ=34,33;MFRL=0,0;MMQ=36,26;MPOS=76;POPAF=7.3;TLOD=11.42;SRC=custom;GRP=custom;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000412115|lncRNA||1/4|ENST00000412115.2:n.346+288G>T|||||||||1||SNV|HGNC|HGNC:50701|YES|||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000429505|lncRNA||1/3|ENST00000429505.6:n.333+288G>T|||||||||1||SNV|HGNC|HGNC:50701||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000434264|lncRNA||1/2|ENST00000434264.6:n.323+288G>T|||||||||1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000443772|lncRNA||1/3|ENST00000443772.2:n.121+288G>T|||||||||1||SNV|HGNC|HGNC:50701||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000457084|lncRNA||1/1|ENST00000457084.1:n.311+288G>T|||||||||1||SNV|HGNC|HGNC:50701||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291215|Transcript|ENST00000506640|lncRNA|||||||||||717|-1||SNV|||YES|||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000585745|lncRNA|||||||||||4990|1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000585768|lncRNA|||||||||||4990|1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000585826|lncRNA|||||||||||4990|1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000586928|lncRNA|||||||||||4990|1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000587530|lncRNA|||||||||||4990|1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000588951|lncRNA|||||||||||4990|1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000589531|lncRNA|||||||||||4990|1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000589899|lncRNA||1/3|ENST00000589899.5:n.163+288G>T|||||||||1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000590848|lncRNA|||||||||||4990|1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000591440|lncRNA|||||||||||4990|1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000592547|lncRNA|||||||||||4990|1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000593022|lncRNA|||||||||||4990|1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000609830|lncRNA||1/3|ENST00000609830.1:n.156+288G>T|||||||||1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+48290C>A|||||||||-1||SNV|||YES|||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+48290C>A|||||||||-1||SNV||||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000285268|Transcript|ENST00000644482|transcribed_processed_pseudogene|||||||||||2557|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000651411|lncRNA||1/3|ENST00000651411.1:n.244+288G>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000655765|lncRNA||1/2|ENST00000655765.1:n.346+288G>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000656571|lncRNA||1/4|ENST00000656571.1:n.291+288G>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000657896|lncRNA||1/3|ENST00000657896.1:n.333+288G>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000658648|lncRNA||1/4|ENST00000658648.1:n.297+288G>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000665719|lncRNA||1/4|ENST00000665719.1:n.281+288G>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000665867|lncRNA||1/1|ENST00000665867.1:n.284+288G>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000666217|lncRNA||1/3|ENST00000666217.1:n.281+288G>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000669749|lncRNA||1/3|ENST00000669749.1:n.284+288G>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000670700|lncRNA||1/4|ENST00000670700.1:n.335+288G>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291215|Transcript|ENST00000692781|lncRNA|||||||||||692|-1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000081|promoter||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,4:0.6:5:1,0:0,2:1,2:0,1,2,2 -chr1 779968 . T G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|5%2C6;DP=13;ECNT=1;GERMQ=72;MBQ=0,34;MFRL=0,0;MMQ=60,50;MPOS=65;POPAF=7.3;TLOD=39.07;SRC=custom;GRP=custom;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000412115|lncRNA||1/4|ENST00000412115.2:n.346+876T>G|||||||rs3131984||1||SNV|HGNC|HGNC:50701|YES|||3||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000429505|lncRNA||1/3|ENST00000429505.6:n.333+876T>G|||||||rs3131984||1||SNV|HGNC|HGNC:50701||||3||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000434264|lncRNA||1/2|ENST00000434264.6:n.323+876T>G|||||||rs3131984||1||SNV|HGNC|HGNC:50701||||5||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000443772|lncRNA||1/3|ENST00000443772.2:n.121+876T>G|||||||rs3131984||1||SNV|HGNC|HGNC:50701||||3||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000457084|lncRNA||1/1|ENST00000457084.1:n.311+876T>G|||||||rs3131984||1||SNV|HGNC|HGNC:50701||||4||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000291215|Transcript|ENST00000506640|lncRNA||||||||||rs3131984|1305|-1||SNV|||YES|||5||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000585745|lncRNA||||||||||rs3131984|4402|1||SNV|HGNC|HGNC:50701||||5||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000585768|lncRNA||||||||||rs3131984|4402|1||SNV|HGNC|HGNC:50701||||5||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000585826|lncRNA||||||||||rs3131984|4402|1||SNV|HGNC|HGNC:50701||||||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000586288|lncRNA||||||||||rs3131984|4428|1||SNV|HGNC|HGNC:50701||||5||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000586928|lncRNA||||||||||rs3131984|4402|1||SNV|HGNC|HGNC:50701||||5||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000587530|lncRNA||||||||||rs3131984|4402|1||SNV|HGNC|HGNC:50701||||5||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000588951|lncRNA||||||||||rs3131984|4402|1||SNV|HGNC|HGNC:50701||||5||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000589531|lncRNA||||||||||rs3131984|4402|1||SNV|HGNC|HGNC:50701||||5||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000589899|lncRNA||1/3|ENST00000589899.5:n.163+876T>G|||||||rs3131984||1||SNV|HGNC|HGNC:50701||||5||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000590848|lncRNA||||||||||rs3131984|4402|1||SNV|HGNC|HGNC:50701||||5||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000591440|lncRNA||||||||||rs3131984|4402|1||SNV|HGNC|HGNC:50701||||5||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000592547|lncRNA||||||||||rs3131984|4402|1||SNV|HGNC|HGNC:50701||||||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000593022|lncRNA||||||||||rs3131984|4402|1||SNV|HGNC|HGNC:50701||||5||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000609830|lncRNA||1/3|ENST00000609830.1:n.156+876T>G|||||||rs3131984||1||SNV|HGNC|HGNC:50701||||5||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+47702A>C|||||||rs3131984||-1||SNV|||YES|||5||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+47702A>C|||||||rs3131984||-1||SNV||||||5||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000285268|Transcript|ENST00000644482|transcribed_processed_pseudogene||||||||||rs3131984|1969|1||SNV|||YES|||||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000651411|lncRNA||1/3|ENST00000651411.1:n.244+876T>G|||||||rs3131984||1||SNV|HGNC|HGNC:50701||||||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000655765|lncRNA||1/2|ENST00000655765.1:n.346+876T>G|||||||rs3131984||1||SNV|HGNC|HGNC:50701||||||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000656571|lncRNA||1/4|ENST00000656571.1:n.291+876T>G|||||||rs3131984||1||SNV|HGNC|HGNC:50701||||||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000657896|lncRNA||1/3|ENST00000657896.1:n.333+876T>G|||||||rs3131984||1||SNV|HGNC|HGNC:50701||||||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000658648|lncRNA||1/4|ENST00000658648.1:n.297+876T>G|||||||rs3131984||1||SNV|HGNC|HGNC:50701||||||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000665719|lncRNA||1/4|ENST00000665719.1:n.281+876T>G|||||||rs3131984||1||SNV|HGNC|HGNC:50701||||||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000665867|lncRNA||1/1|ENST00000665867.1:n.284+876T>G|||||||rs3131984||1||SNV|HGNC|HGNC:50701||||||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000666217|lncRNA||1/3|ENST00000666217.1:n.281+876T>G|||||||rs3131984||1||SNV|HGNC|HGNC:50701||||||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000669749|lncRNA||1/3|ENST00000669749.1:n.284+876T>G|||||||rs3131984||1||SNV|HGNC|HGNC:50701||||||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000670700|lncRNA||1/4|ENST00000670700.1:n.335+876T>G|||||||rs3131984||1||SNV|HGNC|HGNC:50701||||||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000291215|Transcript|ENST00000692781|lncRNA||||||||||rs3131984|1280|-1||SNV||||||||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000081|promoter||||||||||rs3131984||||SNV||||||||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,11:0.88:11:0,1:0,5:0,6:0,0,5,6 -chr1 779968 . T G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C8;DP=12;ECNT=1;GERMQ=76;MBQ=0,34;MFRL=0,0;MMQ=60,39;MPOS=81;POPAF=7.3;TLOD=43.17;SRC=custom;GRP=custom;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000412115|lncRNA||1/4|ENST00000412115.2:n.346+876T>G|||||||rs3131984||1||SNV|HGNC|HGNC:50701|YES|||3||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000429505|lncRNA||1/3|ENST00000429505.6:n.333+876T>G|||||||rs3131984||1||SNV|HGNC|HGNC:50701||||3||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000434264|lncRNA||1/2|ENST00000434264.6:n.323+876T>G|||||||rs3131984||1||SNV|HGNC|HGNC:50701||||5||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000443772|lncRNA||1/3|ENST00000443772.2:n.121+876T>G|||||||rs3131984||1||SNV|HGNC|HGNC:50701||||3||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000457084|lncRNA||1/1|ENST00000457084.1:n.311+876T>G|||||||rs3131984||1||SNV|HGNC|HGNC:50701||||4||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000291215|Transcript|ENST00000506640|lncRNA||||||||||rs3131984|1305|-1||SNV|||YES|||5||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000585745|lncRNA||||||||||rs3131984|4402|1||SNV|HGNC|HGNC:50701||||5||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000585768|lncRNA||||||||||rs3131984|4402|1||SNV|HGNC|HGNC:50701||||5||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000585826|lncRNA||||||||||rs3131984|4402|1||SNV|HGNC|HGNC:50701||||||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000586288|lncRNA||||||||||rs3131984|4428|1||SNV|HGNC|HGNC:50701||||5||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000586928|lncRNA||||||||||rs3131984|4402|1||SNV|HGNC|HGNC:50701||||5||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000587530|lncRNA||||||||||rs3131984|4402|1||SNV|HGNC|HGNC:50701||||5||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000588951|lncRNA||||||||||rs3131984|4402|1||SNV|HGNC|HGNC:50701||||5||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000589531|lncRNA||||||||||rs3131984|4402|1||SNV|HGNC|HGNC:50701||||5||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000589899|lncRNA||1/3|ENST00000589899.5:n.163+876T>G|||||||rs3131984||1||SNV|HGNC|HGNC:50701||||5||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000590848|lncRNA||||||||||rs3131984|4402|1||SNV|HGNC|HGNC:50701||||5||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000591440|lncRNA||||||||||rs3131984|4402|1||SNV|HGNC|HGNC:50701||||5||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000592547|lncRNA||||||||||rs3131984|4402|1||SNV|HGNC|HGNC:50701||||||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000593022|lncRNA||||||||||rs3131984|4402|1||SNV|HGNC|HGNC:50701||||5||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000609830|lncRNA||1/3|ENST00000609830.1:n.156+876T>G|||||||rs3131984||1||SNV|HGNC|HGNC:50701||||5||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+47702A>C|||||||rs3131984||-1||SNV|||YES|||5||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+47702A>C|||||||rs3131984||-1||SNV||||||5||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000285268|Transcript|ENST00000644482|transcribed_processed_pseudogene||||||||||rs3131984|1969|1||SNV|||YES|||||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000651411|lncRNA||1/3|ENST00000651411.1:n.244+876T>G|||||||rs3131984||1||SNV|HGNC|HGNC:50701||||||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000655765|lncRNA||1/2|ENST00000655765.1:n.346+876T>G|||||||rs3131984||1||SNV|HGNC|HGNC:50701||||||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000656571|lncRNA||1/4|ENST00000656571.1:n.291+876T>G|||||||rs3131984||1||SNV|HGNC|HGNC:50701||||||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000657896|lncRNA||1/3|ENST00000657896.1:n.333+876T>G|||||||rs3131984||1||SNV|HGNC|HGNC:50701||||||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000658648|lncRNA||1/4|ENST00000658648.1:n.297+876T>G|||||||rs3131984||1||SNV|HGNC|HGNC:50701||||||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000665719|lncRNA||1/4|ENST00000665719.1:n.281+876T>G|||||||rs3131984||1||SNV|HGNC|HGNC:50701||||||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000665867|lncRNA||1/1|ENST00000665867.1:n.284+876T>G|||||||rs3131984||1||SNV|HGNC|HGNC:50701||||||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000666217|lncRNA||1/3|ENST00000666217.1:n.281+876T>G|||||||rs3131984||1||SNV|HGNC|HGNC:50701||||||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000669749|lncRNA||1/3|ENST00000669749.1:n.284+876T>G|||||||rs3131984||1||SNV|HGNC|HGNC:50701||||||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000670700|lncRNA||1/4|ENST00000670700.1:n.335+876T>G|||||||rs3131984||1||SNV|HGNC|HGNC:50701||||||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000291215|Transcript|ENST00000692781|lncRNA||||||||||rs3131984|1280|-1||SNV||||||||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000081|promoter||||||||||rs3131984||||SNV||||||||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,12:0.9:12:0,3:0,4:0,8:0,0,4,8 -chr1 780634 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,29;MFRL=0,0;MMQ=60,32;MPOS=16;POPAF=7.3;TLOD=3.08;SRC=custom;GRP=custom;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000412115|lncRNA||1/4|ENST00000412115.2:n.346+1542G>T|||||||||1||SNV|HGNC|HGNC:50701|YES|||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000429505|lncRNA||1/3|ENST00000429505.6:n.333+1542G>T|||||||||1||SNV|HGNC|HGNC:50701||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000434264|lncRNA||1/2|ENST00000434264.6:n.324-1303G>T|||||||||1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000443772|lncRNA||1/3|ENST00000443772.2:n.121+1542G>T|||||||||1||SNV|HGNC|HGNC:50701||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000457084|lncRNA||1/1|ENST00000457084.1:n.312-1303G>T|||||||||1||SNV|HGNC|HGNC:50701||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291215|Transcript|ENST00000506640|lncRNA|||||||||||1971|-1||SNV|||YES|||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000585745|lncRNA|||||||||||3736|1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000585768|lncRNA|||||||||||3736|1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000585826|lncRNA|||||||||||3736|1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000586288|lncRNA|||||||||||3762|1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000586928|lncRNA|||||||||||3736|1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000587530|lncRNA|||||||||||3736|1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000588951|lncRNA|||||||||||3736|1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000589531|lncRNA|||||||||||3736|1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000589899|lncRNA||1/3|ENST00000589899.5:n.164-1303G>T|||||||||1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000590848|lncRNA|||||||||||3736|1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000591440|lncRNA|||||||||||3736|1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000592547|lncRNA|||||||||||3736|1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000593022|lncRNA|||||||||||3736|1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000609830|lncRNA||1/3|ENST00000609830.1:n.157-1303G>T|||||||||1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+47036C>A|||||||||-1||SNV|||YES|||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+47036C>A|||||||||-1||SNV||||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000285268|Transcript|ENST00000644482|transcribed_processed_pseudogene|||||||||||1303|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000651411|lncRNA||1/3|ENST00000651411.1:n.244+1542G>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000655765|lncRNA||1/2|ENST00000655765.1:n.346+1542G>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000656571|lncRNA||1/4|ENST00000656571.1:n.291+1542G>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000657896|lncRNA||1/3|ENST00000657896.1:n.333+1542G>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000658648|lncRNA||1/4|ENST00000658648.1:n.297+1542G>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000665719|lncRNA||1/4|ENST00000665719.1:n.281+1542G>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000665867|lncRNA||1/1|ENST00000665867.1:n.284+1542G>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000666217|lncRNA||1/3|ENST00000666217.1:n.281+1542G>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000669749|lncRNA||1/3|ENST00000669749.1:n.284+1542G>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000670700|lncRNA||1/4|ENST00000670700.1:n.335+1542G>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291215|Transcript|ENST00000692781|lncRNA|||||||||||1946|-1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000081|promoter||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 781047 . C T . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=2%2C2|1%2C1;DP=6;ECNT=1;GERMQ=39;MBQ=34,34;MFRL=0,0;MMQ=22,24;MPOS=82;POPAF=7.3;TLOD=4.67;SRC=custom;GRP=custom;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000412115|lncRNA||1/4|ENST00000412115.2:n.346+1955C>T|||||||||1||SNV|HGNC|HGNC:50701|YES|||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000429505|lncRNA||1/3|ENST00000429505.6:n.333+1955C>T|||||||||1||SNV|HGNC|HGNC:50701||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000434264|lncRNA||1/2|ENST00000434264.6:n.324-890C>T|||||||||1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000443772|lncRNA||1/3|ENST00000443772.2:n.121+1955C>T|||||||||1||SNV|HGNC|HGNC:50701||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000457084|lncRNA||1/1|ENST00000457084.1:n.312-890C>T|||||||||1||SNV|HGNC|HGNC:50701||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291215|Transcript|ENST00000506640|lncRNA|||||||||||2384|-1||SNV|||YES|||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000585745|lncRNA|||||||||||3323|1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000585768|lncRNA|||||||||||3323|1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000585826|lncRNA|||||||||||3323|1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000586288|lncRNA|||||||||||3349|1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000586928|lncRNA|||||||||||3323|1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000587530|lncRNA|||||||||||3323|1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000588951|lncRNA|||||||||||3323|1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000589531|lncRNA|||||||||||3323|1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000589899|lncRNA||1/3|ENST00000589899.5:n.164-890C>T|||||||||1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000590848|lncRNA|||||||||||3323|1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000591440|lncRNA|||||||||||3323|1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000591702|lncRNA|||||||||||4753|1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000592547|lncRNA|||||||||||3323|1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000593022|lncRNA|||||||||||3323|1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000609830|lncRNA||1/3|ENST00000609830.1:n.157-890C>T|||||||||1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+46623G>A|||||||||-1||SNV|||YES|||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+46623G>A|||||||||-1||SNV||||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000285268|Transcript|ENST00000644482|transcribed_processed_pseudogene|||||||||||890|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000651411|lncRNA||1/3|ENST00000651411.1:n.244+1955C>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000655765|lncRNA||1/2|ENST00000655765.1:n.346+1955C>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000656571|lncRNA||1/4|ENST00000656571.1:n.291+1955C>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000657896|lncRNA||1/3|ENST00000657896.1:n.333+1955C>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000658648|lncRNA||1/4|ENST00000658648.1:n.297+1955C>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000665719|lncRNA||1/4|ENST00000665719.1:n.281+1955C>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000665867|lncRNA||1/1|ENST00000665867.1:n.284+1955C>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000666217|lncRNA||1/3|ENST00000666217.1:n.281+1955C>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000669749|lncRNA||1/3|ENST00000669749.1:n.284+1955C>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000670700|lncRNA||1/4|ENST00000670700.1:n.335+1955C>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291215|Transcript|ENST00000692781|lncRNA|||||||||||2359|-1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000081|promoter||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,2:0.4:6:0,0:2,1:2,1:2,2,1,1 -chr1 783175 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C1;DP=3;ECNT=1;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,32;MPOS=13;POPAF=7.3;TLOD=10.65;SRC=custom;GRP=custom;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000412115|lncRNA||1/4|ENST00000412115.2:n.346+4083T>C|||||||rs10751453||1||SNV|HGNC|HGNC:50701|YES|||3|||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000429505|lncRNA||1/3|ENST00000429505.6:n.333+4083T>C|||||||rs10751453||1||SNV|HGNC|HGNC:50701||||3|||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000434264|lncRNA||2/2|ENST00000434264.6:n.523+1039T>C|||||||rs10751453||1||SNV|HGNC|HGNC:50701||||5|||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000443772|lncRNA||1/3|ENST00000443772.2:n.121+4083T>C|||||||rs10751453||1||SNV|HGNC|HGNC:50701||||3|||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000457084|lncRNA||||||||||rs10751453|984|1||SNV|HGNC|HGNC:50701||||4|||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000291215|Transcript|ENST00000506640|lncRNA||||||||||rs10751453|4512|-1||SNV|||YES|||5|||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000585745|lncRNA||||||||||rs10751453|1195|1||SNV|HGNC|HGNC:50701||||5|||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000585768|lncRNA||||||||||rs10751453|1195|1||SNV|HGNC|HGNC:50701||||5|||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000585826|lncRNA||||||||||rs10751453|1195|1||SNV|HGNC|HGNC:50701|||||||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000586288|lncRNA||||||||||rs10751453|1221|1||SNV|HGNC|HGNC:50701||||5|||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000586928|lncRNA||||||||||rs10751453|1195|1||SNV|HGNC|HGNC:50701||||5|||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000587530|lncRNA||||||||||rs10751453|1195|1||SNV|HGNC|HGNC:50701||||5|||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000588951|lncRNA||||||||||rs10751453|1195|1||SNV|HGNC|HGNC:50701||||5|||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000589531|lncRNA||||||||||rs10751453|1195|1||SNV|HGNC|HGNC:50701||||5|||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000589899|lncRNA|3/4||ENST00000589899.5:n.335T>C||335|||||rs10751453||1||SNV|HGNC|HGNC:50701||||5|||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000590848|lncRNA||||||||||rs10751453|1195|1||SNV|HGNC|HGNC:50701||||5|||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000591440|lncRNA||||||||||rs10751453|1195|1||SNV|HGNC|HGNC:50701||||5|||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000591702|lncRNA||||||||||rs10751453|2625|1||SNV|HGNC|HGNC:50701|||||||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000592547|lncRNA||||||||||rs10751453|1195|1||SNV|HGNC|HGNC:50701|||||||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000593022|lncRNA||||||||||rs10751453|1195|1||SNV|HGNC|HGNC:50701||||5|||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000609830|lncRNA|3/4||ENST00000609830.1:n.421T>C||421|||||rs10751453||1||SNV|HGNC|HGNC:50701||||5|||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+44495A>G|||||||rs10751453||-1||SNV|||YES|||5|||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+44495A>G|||||||rs10751453||-1||SNV||||||5|||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000285268|Transcript|ENST00000644482|transcribed_processed_pseudogene||||||||||rs10751453|1125|1||SNV|||YES||||||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000651411|lncRNA||1/3|ENST00000651411.1:n.244+4083T>C|||||||rs10751453||1||SNV|HGNC|HGNC:50701|||||||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000655765|lncRNA||1/2|ENST00000655765.1:n.346+4083T>C|||||||rs10751453||1||SNV|HGNC|HGNC:50701|||||||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000656571|lncRNA||1/4|ENST00000656571.1:n.291+4083T>C|||||||rs10751453||1||SNV|HGNC|HGNC:50701|||||||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000657896|lncRNA||1/3|ENST00000657896.1:n.333+4083T>C|||||||rs10751453||1||SNV|HGNC|HGNC:50701|||||||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000658648|lncRNA||1/4|ENST00000658648.1:n.297+4083T>C|||||||rs10751453||1||SNV|HGNC|HGNC:50701|||||||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000665719|lncRNA||1/4|ENST00000665719.1:n.281+4083T>C|||||||rs10751453||1||SNV|HGNC|HGNC:50701|||||||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000665867|lncRNA||1/1|ENST00000665867.1:n.285-3218T>C|||||||rs10751453||1||SNV|HGNC|HGNC:50701|||||||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000666217|lncRNA||1/3|ENST00000666217.1:n.281+4083T>C|||||||rs10751453||1||SNV|HGNC|HGNC:50701|||||||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000669749|lncRNA||1/3|ENST00000669749.1:n.284+4083T>C|||||||rs10751453||1||SNV|HGNC|HGNC:50701|||||||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000670700|lncRNA||1/4|ENST00000670700.1:n.335+4083T>C|||||||rs10751453||1||SNV|HGNC|HGNC:50701|||||||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000291215|Transcript|ENST00000692781|lncRNA||||||||||rs10751453|4487|-1||SNV|||||||||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,0:0,2:0,2:0,0,2,1 -chr1 783175 . T C . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|3%2C2;DP=5;ECNT=1;GERMQ=55;MBQ=0,34;MFRL=0,0;MMQ=60,27;MPOS=34;POPAF=7.3;TLOD=14.88;SRC=custom;GRP=custom;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000412115|lncRNA||1/4|ENST00000412115.2:n.346+4083T>C|||||||rs10751453||1||SNV|HGNC|HGNC:50701|YES|||3|||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000429505|lncRNA||1/3|ENST00000429505.6:n.333+4083T>C|||||||rs10751453||1||SNV|HGNC|HGNC:50701||||3|||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000434264|lncRNA||2/2|ENST00000434264.6:n.523+1039T>C|||||||rs10751453||1||SNV|HGNC|HGNC:50701||||5|||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000443772|lncRNA||1/3|ENST00000443772.2:n.121+4083T>C|||||||rs10751453||1||SNV|HGNC|HGNC:50701||||3|||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000457084|lncRNA||||||||||rs10751453|984|1||SNV|HGNC|HGNC:50701||||4|||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000291215|Transcript|ENST00000506640|lncRNA||||||||||rs10751453|4512|-1||SNV|||YES|||5|||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000585745|lncRNA||||||||||rs10751453|1195|1||SNV|HGNC|HGNC:50701||||5|||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000585768|lncRNA||||||||||rs10751453|1195|1||SNV|HGNC|HGNC:50701||||5|||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000585826|lncRNA||||||||||rs10751453|1195|1||SNV|HGNC|HGNC:50701|||||||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000586288|lncRNA||||||||||rs10751453|1221|1||SNV|HGNC|HGNC:50701||||5|||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000586928|lncRNA||||||||||rs10751453|1195|1||SNV|HGNC|HGNC:50701||||5|||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000587530|lncRNA||||||||||rs10751453|1195|1||SNV|HGNC|HGNC:50701||||5|||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000588951|lncRNA||||||||||rs10751453|1195|1||SNV|HGNC|HGNC:50701||||5|||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000589531|lncRNA||||||||||rs10751453|1195|1||SNV|HGNC|HGNC:50701||||5|||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000589899|lncRNA|3/4||ENST00000589899.5:n.335T>C||335|||||rs10751453||1||SNV|HGNC|HGNC:50701||||5|||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000590848|lncRNA||||||||||rs10751453|1195|1||SNV|HGNC|HGNC:50701||||5|||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000591440|lncRNA||||||||||rs10751453|1195|1||SNV|HGNC|HGNC:50701||||5|||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000591702|lncRNA||||||||||rs10751453|2625|1||SNV|HGNC|HGNC:50701|||||||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000592547|lncRNA||||||||||rs10751453|1195|1||SNV|HGNC|HGNC:50701|||||||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000593022|lncRNA||||||||||rs10751453|1195|1||SNV|HGNC|HGNC:50701||||5|||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000609830|lncRNA|3/4||ENST00000609830.1:n.421T>C||421|||||rs10751453||1||SNV|HGNC|HGNC:50701||||5|||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+44495A>G|||||||rs10751453||-1||SNV|||YES|||5|||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+44495A>G|||||||rs10751453||-1||SNV||||||5|||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000285268|Transcript|ENST00000644482|transcribed_processed_pseudogene||||||||||rs10751453|1125|1||SNV|||YES||||||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000651411|lncRNA||1/3|ENST00000651411.1:n.244+4083T>C|||||||rs10751453||1||SNV|HGNC|HGNC:50701|||||||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000655765|lncRNA||1/2|ENST00000655765.1:n.346+4083T>C|||||||rs10751453||1||SNV|HGNC|HGNC:50701|||||||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000656571|lncRNA||1/4|ENST00000656571.1:n.291+4083T>C|||||||rs10751453||1||SNV|HGNC|HGNC:50701|||||||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000657896|lncRNA||1/3|ENST00000657896.1:n.333+4083T>C|||||||rs10751453||1||SNV|HGNC|HGNC:50701|||||||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000658648|lncRNA||1/4|ENST00000658648.1:n.297+4083T>C|||||||rs10751453||1||SNV|HGNC|HGNC:50701|||||||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000665719|lncRNA||1/4|ENST00000665719.1:n.281+4083T>C|||||||rs10751453||1||SNV|HGNC|HGNC:50701|||||||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000665867|lncRNA||1/1|ENST00000665867.1:n.285-3218T>C|||||||rs10751453||1||SNV|HGNC|HGNC:50701|||||||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000666217|lncRNA||1/3|ENST00000666217.1:n.281+4083T>C|||||||rs10751453||1||SNV|HGNC|HGNC:50701|||||||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000669749|lncRNA||1/3|ENST00000669749.1:n.284+4083T>C|||||||rs10751453||1||SNV|HGNC|HGNC:50701|||||||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000670700|lncRNA||1/4|ENST00000670700.1:n.335+4083T>C|||||||rs10751453||1||SNV|HGNC|HGNC:50701|||||||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000291215|Transcript|ENST00000692781|lncRNA||||||||||rs10751453|4487|-1||SNV|||||||||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.8:5:0,0:0,3:0,3:0,0,3,2 -chr1 794299 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,34;MPOS=52;POPAF=7.3;TLOD=7.35;SRC=custom;GRP=custom;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000412115|lncRNA||1/4|ENST00000412115.2:n.347-9652C>G|||||||rs4951859||1||SNV|HGNC|HGNC:50701|YES|||3||||||||||||||0.6400|0.2905|0.7536|0.6875|0.841|0.7761||||||||||0.6769|0.3552|0.822|0.721|0.7766|0.6904|0.7911|0.7532|0.8294|0.7091|0.7612|0.841|EUR|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000429505|lncRNA||1/3|ENST00000429505.6:n.334-9268C>G|||||||rs4951859||1||SNV|HGNC|HGNC:50701||||3||||||||||||||0.6400|0.2905|0.7536|0.6875|0.841|0.7761||||||||||0.6769|0.3552|0.822|0.721|0.7766|0.6904|0.7911|0.7532|0.8294|0.7091|0.7612|0.841|EUR|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000443772|lncRNA||1/3|ENST00000443772.2:n.122-9623C>G|||||||rs4951859||1||SNV|HGNC|HGNC:50701||||3||||||||||||||0.6400|0.2905|0.7536|0.6875|0.841|0.7761||||||||||0.6769|0.3552|0.822|0.721|0.7766|0.6904|0.7911|0.7532|0.8294|0.7091|0.7612|0.841|EUR|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000585745|lncRNA||1/1|ENST00000585745.5:n.125-1171C>G|||||||rs4951859||1||SNV|HGNC|HGNC:50701||||5||||||||||||||0.6400|0.2905|0.7536|0.6875|0.841|0.7761||||||||||0.6769|0.3552|0.822|0.721|0.7766|0.6904|0.7911|0.7532|0.8294|0.7091|0.7612|0.841|EUR|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000585768|lncRNA||1/1|ENST00000585768.5:n.125-7308C>G|||||||rs4951859||1||SNV|HGNC|HGNC:50701||||5||||||||||||||0.6400|0.2905|0.7536|0.6875|0.841|0.7761||||||||||0.6769|0.3552|0.822|0.721|0.7766|0.6904|0.7911|0.7532|0.8294|0.7091|0.7612|0.841|EUR|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000586288|lncRNA||2/6|ENST00000586288.1:n.259-1171C>G|||||||rs4951859||1||SNV|HGNC|HGNC:50701||||5||||||||||||||0.6400|0.2905|0.7536|0.6875|0.841|0.7761||||||||||0.6769|0.3552|0.822|0.721|0.7766|0.6904|0.7911|0.7532|0.8294|0.7091|0.7612|0.841|EUR|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000587530|lncRNA||1/3|ENST00000587530.5:n.125-9268C>G|||||||rs4951859||1||SNV|HGNC|HGNC:50701||||5||||||||||||||0.6400|0.2905|0.7536|0.6875|0.841|0.7761||||||||||0.6769|0.3552|0.822|0.721|0.7766|0.6904|0.7911|0.7532|0.8294|0.7091|0.7612|0.841|EUR|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000588951|lncRNA||1/3|ENST00000588951.5:n.125-9620C>G|||||||rs4951859||1||SNV|HGNC|HGNC:50701||||5||||||||||||||0.6400|0.2905|0.7536|0.6875|0.841|0.7761||||||||||0.6769|0.3552|0.822|0.721|0.7766|0.6904|0.7911|0.7532|0.8294|0.7091|0.7612|0.841|EUR|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000589531|lncRNA||1/3|ENST00000589531.5:n.125-9623C>G|||||||rs4951859||1||SNV|HGNC|HGNC:50701||||5||||||||||||||0.6400|0.2905|0.7536|0.6875|0.841|0.7761||||||||||0.6769|0.3552|0.822|0.721|0.7766|0.6904|0.7911|0.7532|0.8294|0.7091|0.7612|0.841|EUR|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000590848|lncRNA||2/4|ENST00000590848.5:n.285-1171C>G|||||||rs4951859||1||SNV|HGNC|HGNC:50701||||5||||||||||||||0.6400|0.2905|0.7536|0.6875|0.841|0.7761||||||||||0.6769|0.3552|0.822|0.721|0.7766|0.6904|0.7911|0.7532|0.8294|0.7091|0.7612|0.841|EUR|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000591440|lncRNA||1/2|ENST00000591440.5:n.125-9620C>G|||||||rs4951859||1||SNV|HGNC|HGNC:50701||||5||||||||||||||0.6400|0.2905|0.7536|0.6875|0.841|0.7761||||||||||0.6769|0.3552|0.822|0.721|0.7766|0.6904|0.7911|0.7532|0.8294|0.7091|0.7612|0.841|EUR|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000593022|lncRNA||1/3|ENST00000593022.5:n.125-9620C>G|||||||rs4951859||1||SNV|HGNC|HGNC:50701||||5||||||||||||||0.6400|0.2905|0.7536|0.6875|0.841|0.7761||||||||||0.6769|0.3552|0.822|0.721|0.7766|0.6904|0.7911|0.7532|0.8294|0.7091|0.7612|0.841|EUR|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+33371G>C|||||||rs4951859||-1||SNV|||YES|||5||||||||||||||0.6400|0.2905|0.7536|0.6875|0.841|0.7761||||||||||0.6769|0.3552|0.822|0.721|0.7766|0.6904|0.7911|0.7532|0.8294|0.7091|0.7612|0.841|EUR|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+33371G>C|||||||rs4951859||-1||SNV||||||5||||||||||||||0.6400|0.2905|0.7536|0.6875|0.841|0.7761||||||||||0.6769|0.3552|0.822|0.721|0.7766|0.6904|0.7911|0.7532|0.8294|0.7091|0.7612|0.841|EUR|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000651411|lncRNA||1/3|ENST00000651411.1:n.245-9268C>G|||||||rs4951859||1||SNV|HGNC|HGNC:50701||||||||||||||||||0.6400|0.2905|0.7536|0.6875|0.841|0.7761||||||||||0.6769|0.3552|0.822|0.721|0.7766|0.6904|0.7911|0.7532|0.8294|0.7091|0.7612|0.841|EUR|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000655765|lncRNA||1/2|ENST00000655765.1:n.347-9620C>G|||||||rs4951859||1||SNV|HGNC|HGNC:50701||||||||||||||||||0.6400|0.2905|0.7536|0.6875|0.841|0.7761||||||||||0.6769|0.3552|0.822|0.721|0.7766|0.6904|0.7911|0.7532|0.8294|0.7091|0.7612|0.841|EUR|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000656571|lncRNA||1/4|ENST00000656571.1:n.292-9620C>G|||||||rs4951859||1||SNV|HGNC|HGNC:50701||||||||||||||||||0.6400|0.2905|0.7536|0.6875|0.841|0.7761||||||||||0.6769|0.3552|0.822|0.721|0.7766|0.6904|0.7911|0.7532|0.8294|0.7091|0.7612|0.841|EUR|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000657896|lncRNA||1/3|ENST00000657896.1:n.334-9620C>G|||||||rs4951859||1||SNV|HGNC|HGNC:50701||||||||||||||||||0.6400|0.2905|0.7536|0.6875|0.841|0.7761||||||||||0.6769|0.3552|0.822|0.721|0.7766|0.6904|0.7911|0.7532|0.8294|0.7091|0.7612|0.841|EUR|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000658648|lncRNA||1/4|ENST00000658648.1:n.298-9620C>G|||||||rs4951859||1||SNV|HGNC|HGNC:50701||||||||||||||||||0.6400|0.2905|0.7536|0.6875|0.841|0.7761||||||||||0.6769|0.3552|0.822|0.721|0.7766|0.6904|0.7911|0.7532|0.8294|0.7091|0.7612|0.841|EUR|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000665719|lncRNA||1/4|ENST00000665719.1:n.282-9620C>G|||||||rs4951859||1||SNV|HGNC|HGNC:50701||||||||||||||||||0.6400|0.2905|0.7536|0.6875|0.841|0.7761||||||||||0.6769|0.3552|0.822|0.721|0.7766|0.6904|0.7911|0.7532|0.8294|0.7091|0.7612|0.841|EUR|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000666217|lncRNA||1/3|ENST00000666217.1:n.282-9620C>G|||||||rs4951859||1||SNV|HGNC|HGNC:50701||||||||||||||||||0.6400|0.2905|0.7536|0.6875|0.841|0.7761||||||||||0.6769|0.3552|0.822|0.721|0.7766|0.6904|0.7911|0.7532|0.8294|0.7091|0.7612|0.841|EUR|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000669749|lncRNA||1/3|ENST00000669749.1:n.285-9620C>G|||||||rs4951859||1||SNV|HGNC|HGNC:50701||||||||||||||||||0.6400|0.2905|0.7536|0.6875|0.841|0.7761||||||||||0.6769|0.3552|0.822|0.721|0.7766|0.6904|0.7911|0.7532|0.8294|0.7091|0.7612|0.841|EUR|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000670700|lncRNA||1/4|ENST00000670700.1:n.336-9620C>G|||||||rs4951859||1||SNV|HGNC|HGNC:50701||||||||||||||||||0.6400|0.2905|0.7536|0.6875|0.841|0.7761||||||||||0.6769|0.3552|0.822|0.721|0.7766|0.6904|0.7911|0.7532|0.8294|0.7091|0.7612|0.841|EUR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 797585 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=2;GERMQ=46;MBQ=0,32;MFRL=0,0;MMQ=60,31;MPOS=21;POPAF=7.3;TLOD=6.85;SRC=custom;GRP=custom;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000412115|lncRNA||1/4|ENST00000412115.2:n.347-6366G>T|||||||||1||SNV|HGNC|HGNC:50701|YES|||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000429505|lncRNA||1/3|ENST00000429505.6:n.334-5982G>T|||||||||1||SNV|HGNC|HGNC:50701||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000443772|lncRNA||1/3|ENST00000443772.2:n.122-6337G>T|||||||||1||SNV|HGNC|HGNC:50701||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000290784|Transcript|ENST00000447500|lncRNA|||||||||||3294|-1||SNV|||YES|||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000585745|lncRNA|||||||||||2072|1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000585768|lncRNA||1/1|ENST00000585768.5:n.125-4022G>T|||||||||1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000586288|lncRNA||3/6|ENST00000586288.1:n.371+2003G>T|||||||||1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000587530|lncRNA||1/3|ENST00000587530.5:n.125-5982G>T|||||||||1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000588951|lncRNA||1/3|ENST00000588951.5:n.125-6334G>T|||||||||1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000589531|lncRNA||1/3|ENST00000589531.5:n.125-6337G>T|||||||||1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000590848|lncRNA||3/4|ENST00000590848.5:n.397+2003G>T|||||||||1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000591440|lncRNA||1/2|ENST00000591440.5:n.125-6334G>T|||||||||1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000593022|lncRNA||1/3|ENST00000593022.5:n.125-6334G>T|||||||||1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+30085C>A|||||||||-1||SNV|||YES|||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+30085C>A|||||||||-1||SNV||||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000651411|lncRNA||1/3|ENST00000651411.1:n.245-5982G>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000655765|lncRNA||1/2|ENST00000655765.1:n.347-6334G>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000656571|lncRNA||1/4|ENST00000656571.1:n.292-6334G>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000657896|lncRNA||1/3|ENST00000657896.1:n.334-6334G>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000658648|lncRNA||1/4|ENST00000658648.1:n.298-6334G>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000665719|lncRNA||1/4|ENST00000665719.1:n.282-6334G>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000666217|lncRNA||1/3|ENST00000666217.1:n.282-6334G>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000669749|lncRNA||1/3|ENST00000669749.1:n.285-6334G>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000670700|lncRNA||1/4|ENST00000670700.1:n.336-6334G>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918343|enhancer||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 797585 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C0|1%2C2;DP=4;ECNT=2;GERMQ=39;MBQ=34,34;MFRL=0,0;MMQ=22,31;MPOS=35;POPAF=7.3;TLOD=8.75;SRC=custom;GRP=custom;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000412115|lncRNA||1/4|ENST00000412115.2:n.347-6366G>T|||||||||1||SNV|HGNC|HGNC:50701|YES|||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000429505|lncRNA||1/3|ENST00000429505.6:n.334-5982G>T|||||||||1||SNV|HGNC|HGNC:50701||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000443772|lncRNA||1/3|ENST00000443772.2:n.122-6337G>T|||||||||1||SNV|HGNC|HGNC:50701||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000290784|Transcript|ENST00000447500|lncRNA|||||||||||3294|-1||SNV|||YES|||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000585745|lncRNA|||||||||||2072|1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000585768|lncRNA||1/1|ENST00000585768.5:n.125-4022G>T|||||||||1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000586288|lncRNA||3/6|ENST00000586288.1:n.371+2003G>T|||||||||1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000587530|lncRNA||1/3|ENST00000587530.5:n.125-5982G>T|||||||||1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000588951|lncRNA||1/3|ENST00000588951.5:n.125-6334G>T|||||||||1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000589531|lncRNA||1/3|ENST00000589531.5:n.125-6337G>T|||||||||1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000590848|lncRNA||3/4|ENST00000590848.5:n.397+2003G>T|||||||||1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000591440|lncRNA||1/2|ENST00000591440.5:n.125-6334G>T|||||||||1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000593022|lncRNA||1/3|ENST00000593022.5:n.125-6334G>T|||||||||1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+30085C>A|||||||||-1||SNV|||YES|||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+30085C>A|||||||||-1||SNV||||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000651411|lncRNA||1/3|ENST00000651411.1:n.245-5982G>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000655765|lncRNA||1/2|ENST00000655765.1:n.347-6334G>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000656571|lncRNA||1/4|ENST00000656571.1:n.292-6334G>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000657896|lncRNA||1/3|ENST00000657896.1:n.334-6334G>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000658648|lncRNA||1/4|ENST00000658648.1:n.298-6334G>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000665719|lncRNA||1/4|ENST00000665719.1:n.282-6334G>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000666217|lncRNA||1/3|ENST00000666217.1:n.282-6334G>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000669749|lncRNA||1/3|ENST00000669749.1:n.285-6334G>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000670700|lncRNA||1/4|ENST00000670700.1:n.336-6334G>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918343|enhancer||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,3:0.601:4:0,1:1,1:1,2:1,0,1,2 -chr1 797609 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=2;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,31;MPOS=7;POPAF=7.3;TLOD=3.28;SRC=custom;GRP=custom;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000412115|lncRNA||1/4|ENST00000412115.2:n.347-6342C>T|||||||rs369030935||1||SNV|HGNC|HGNC:50701|YES|||3||||||||||||||0.0094|0.0008|0.0101|0|0.0219|0.0174||||||||||0.01698|0.005171|0.0307|0.01658|0.01008|0|0.008297|0.01582|0.02698|0.01579|0.01893|0.0307|gnomADg_AMI|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000429505|lncRNA||1/3|ENST00000429505.6:n.334-5958C>T|||||||rs369030935||1||SNV|HGNC|HGNC:50701||||3||||||||||||||0.0094|0.0008|0.0101|0|0.0219|0.0174||||||||||0.01698|0.005171|0.0307|0.01658|0.01008|0|0.008297|0.01582|0.02698|0.01579|0.01893|0.0307|gnomADg_AMI|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000443772|lncRNA||1/3|ENST00000443772.2:n.122-6313C>T|||||||rs369030935||1||SNV|HGNC|HGNC:50701||||3||||||||||||||0.0094|0.0008|0.0101|0|0.0219|0.0174||||||||||0.01698|0.005171|0.0307|0.01658|0.01008|0|0.008297|0.01582|0.02698|0.01579|0.01893|0.0307|gnomADg_AMI|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000290784|Transcript|ENST00000447500|lncRNA||||||||||rs369030935|3270|-1||SNV|||YES|||5||||||||||||||0.0094|0.0008|0.0101|0|0.0219|0.0174||||||||||0.01698|0.005171|0.0307|0.01658|0.01008|0|0.008297|0.01582|0.02698|0.01579|0.01893|0.0307|gnomADg_AMI|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000585745|lncRNA||||||||||rs369030935|2096|1||SNV|HGNC|HGNC:50701||||5||||||||||||||0.0094|0.0008|0.0101|0|0.0219|0.0174||||||||||0.01698|0.005171|0.0307|0.01658|0.01008|0|0.008297|0.01582|0.02698|0.01579|0.01893|0.0307|gnomADg_AMI|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000585768|lncRNA||1/1|ENST00000585768.5:n.125-3998C>T|||||||rs369030935||1||SNV|HGNC|HGNC:50701||||5||||||||||||||0.0094|0.0008|0.0101|0|0.0219|0.0174||||||||||0.01698|0.005171|0.0307|0.01658|0.01008|0|0.008297|0.01582|0.02698|0.01579|0.01893|0.0307|gnomADg_AMI|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000586288|lncRNA||3/6|ENST00000586288.1:n.371+2027C>T|||||||rs369030935||1||SNV|HGNC|HGNC:50701||||5||||||||||||||0.0094|0.0008|0.0101|0|0.0219|0.0174||||||||||0.01698|0.005171|0.0307|0.01658|0.01008|0|0.008297|0.01582|0.02698|0.01579|0.01893|0.0307|gnomADg_AMI|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000587530|lncRNA||1/3|ENST00000587530.5:n.125-5958C>T|||||||rs369030935||1||SNV|HGNC|HGNC:50701||||5||||||||||||||0.0094|0.0008|0.0101|0|0.0219|0.0174||||||||||0.01698|0.005171|0.0307|0.01658|0.01008|0|0.008297|0.01582|0.02698|0.01579|0.01893|0.0307|gnomADg_AMI|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000588951|lncRNA||1/3|ENST00000588951.5:n.125-6310C>T|||||||rs369030935||1||SNV|HGNC|HGNC:50701||||5||||||||||||||0.0094|0.0008|0.0101|0|0.0219|0.0174||||||||||0.01698|0.005171|0.0307|0.01658|0.01008|0|0.008297|0.01582|0.02698|0.01579|0.01893|0.0307|gnomADg_AMI|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000589531|lncRNA||1/3|ENST00000589531.5:n.125-6313C>T|||||||rs369030935||1||SNV|HGNC|HGNC:50701||||5||||||||||||||0.0094|0.0008|0.0101|0|0.0219|0.0174||||||||||0.01698|0.005171|0.0307|0.01658|0.01008|0|0.008297|0.01582|0.02698|0.01579|0.01893|0.0307|gnomADg_AMI|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000590848|lncRNA||3/4|ENST00000590848.5:n.397+2027C>T|||||||rs369030935||1||SNV|HGNC|HGNC:50701||||5||||||||||||||0.0094|0.0008|0.0101|0|0.0219|0.0174||||||||||0.01698|0.005171|0.0307|0.01658|0.01008|0|0.008297|0.01582|0.02698|0.01579|0.01893|0.0307|gnomADg_AMI|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000591440|lncRNA||1/2|ENST00000591440.5:n.125-6310C>T|||||||rs369030935||1||SNV|HGNC|HGNC:50701||||5||||||||||||||0.0094|0.0008|0.0101|0|0.0219|0.0174||||||||||0.01698|0.005171|0.0307|0.01658|0.01008|0|0.008297|0.01582|0.02698|0.01579|0.01893|0.0307|gnomADg_AMI|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000593022|lncRNA||1/3|ENST00000593022.5:n.125-6310C>T|||||||rs369030935||1||SNV|HGNC|HGNC:50701||||5||||||||||||||0.0094|0.0008|0.0101|0|0.0219|0.0174||||||||||0.01698|0.005171|0.0307|0.01658|0.01008|0|0.008297|0.01582|0.02698|0.01579|0.01893|0.0307|gnomADg_AMI|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+30061G>A|||||||rs369030935||-1||SNV|||YES|||5||||||||||||||0.0094|0.0008|0.0101|0|0.0219|0.0174||||||||||0.01698|0.005171|0.0307|0.01658|0.01008|0|0.008297|0.01582|0.02698|0.01579|0.01893|0.0307|gnomADg_AMI|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+30061G>A|||||||rs369030935||-1||SNV||||||5||||||||||||||0.0094|0.0008|0.0101|0|0.0219|0.0174||||||||||0.01698|0.005171|0.0307|0.01658|0.01008|0|0.008297|0.01582|0.02698|0.01579|0.01893|0.0307|gnomADg_AMI|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000651411|lncRNA||1/3|ENST00000651411.1:n.245-5958C>T|||||||rs369030935||1||SNV|HGNC|HGNC:50701||||||||||||||||||0.0094|0.0008|0.0101|0|0.0219|0.0174||||||||||0.01698|0.005171|0.0307|0.01658|0.01008|0|0.008297|0.01582|0.02698|0.01579|0.01893|0.0307|gnomADg_AMI|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000655765|lncRNA||1/2|ENST00000655765.1:n.347-6310C>T|||||||rs369030935||1||SNV|HGNC|HGNC:50701||||||||||||||||||0.0094|0.0008|0.0101|0|0.0219|0.0174||||||||||0.01698|0.005171|0.0307|0.01658|0.01008|0|0.008297|0.01582|0.02698|0.01579|0.01893|0.0307|gnomADg_AMI|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000656571|lncRNA||1/4|ENST00000656571.1:n.292-6310C>T|||||||rs369030935||1||SNV|HGNC|HGNC:50701||||||||||||||||||0.0094|0.0008|0.0101|0|0.0219|0.0174||||||||||0.01698|0.005171|0.0307|0.01658|0.01008|0|0.008297|0.01582|0.02698|0.01579|0.01893|0.0307|gnomADg_AMI|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000657896|lncRNA||1/3|ENST00000657896.1:n.334-6310C>T|||||||rs369030935||1||SNV|HGNC|HGNC:50701||||||||||||||||||0.0094|0.0008|0.0101|0|0.0219|0.0174||||||||||0.01698|0.005171|0.0307|0.01658|0.01008|0|0.008297|0.01582|0.02698|0.01579|0.01893|0.0307|gnomADg_AMI|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000658648|lncRNA||1/4|ENST00000658648.1:n.298-6310C>T|||||||rs369030935||1||SNV|HGNC|HGNC:50701||||||||||||||||||0.0094|0.0008|0.0101|0|0.0219|0.0174||||||||||0.01698|0.005171|0.0307|0.01658|0.01008|0|0.008297|0.01582|0.02698|0.01579|0.01893|0.0307|gnomADg_AMI|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000665719|lncRNA||1/4|ENST00000665719.1:n.282-6310C>T|||||||rs369030935||1||SNV|HGNC|HGNC:50701||||||||||||||||||0.0094|0.0008|0.0101|0|0.0219|0.0174||||||||||0.01698|0.005171|0.0307|0.01658|0.01008|0|0.008297|0.01582|0.02698|0.01579|0.01893|0.0307|gnomADg_AMI|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000666217|lncRNA||1/3|ENST00000666217.1:n.282-6310C>T|||||||rs369030935||1||SNV|HGNC|HGNC:50701||||||||||||||||||0.0094|0.0008|0.0101|0|0.0219|0.0174||||||||||0.01698|0.005171|0.0307|0.01658|0.01008|0|0.008297|0.01582|0.02698|0.01579|0.01893|0.0307|gnomADg_AMI|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000669749|lncRNA||1/3|ENST00000669749.1:n.285-6310C>T|||||||rs369030935||1||SNV|HGNC|HGNC:50701||||||||||||||||||0.0094|0.0008|0.0101|0|0.0219|0.0174||||||||||0.01698|0.005171|0.0307|0.01658|0.01008|0|0.008297|0.01582|0.02698|0.01579|0.01893|0.0307|gnomADg_AMI|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000670700|lncRNA||1/4|ENST00000670700.1:n.336-6310C>T|||||||rs369030935||1||SNV|HGNC|HGNC:50701||||||||||||||||||0.0094|0.0008|0.0101|0|0.0219|0.0174||||||||||0.01698|0.005171|0.0307|0.01658|0.01008|0|0.008297|0.01582|0.02698|0.01579|0.01893|0.0307|gnomADg_AMI|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918343|enhancer||||||||||rs369030935||||SNV||||||||||||||||||||0.0094|0.0008|0.0101|0|0.0219|0.0174||||||||||0.01698|0.005171|0.0307|0.01658|0.01008|0|0.008297|0.01582|0.02698|0.01579|0.01893|0.0307|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,0:0,1:0,0,0,1 -chr1 797609 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=2;GERMQ=47;MBQ=0,34;MFRL=0,0;MMQ=60,32;MPOS=31;POPAF=7.3;TLOD=5.95;SRC=custom;GRP=custom;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000412115|lncRNA||1/4|ENST00000412115.2:n.347-6342C>T|||||||rs369030935||1||SNV|HGNC|HGNC:50701|YES|||3||||||||||||||0.0094|0.0008|0.0101|0|0.0219|0.0174||||||||||0.01698|0.005171|0.0307|0.01658|0.01008|0|0.008297|0.01582|0.02698|0.01579|0.01893|0.0307|gnomADg_AMI|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000429505|lncRNA||1/3|ENST00000429505.6:n.334-5958C>T|||||||rs369030935||1||SNV|HGNC|HGNC:50701||||3||||||||||||||0.0094|0.0008|0.0101|0|0.0219|0.0174||||||||||0.01698|0.005171|0.0307|0.01658|0.01008|0|0.008297|0.01582|0.02698|0.01579|0.01893|0.0307|gnomADg_AMI|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000443772|lncRNA||1/3|ENST00000443772.2:n.122-6313C>T|||||||rs369030935||1||SNV|HGNC|HGNC:50701||||3||||||||||||||0.0094|0.0008|0.0101|0|0.0219|0.0174||||||||||0.01698|0.005171|0.0307|0.01658|0.01008|0|0.008297|0.01582|0.02698|0.01579|0.01893|0.0307|gnomADg_AMI|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000290784|Transcript|ENST00000447500|lncRNA||||||||||rs369030935|3270|-1||SNV|||YES|||5||||||||||||||0.0094|0.0008|0.0101|0|0.0219|0.0174||||||||||0.01698|0.005171|0.0307|0.01658|0.01008|0|0.008297|0.01582|0.02698|0.01579|0.01893|0.0307|gnomADg_AMI|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000585745|lncRNA||||||||||rs369030935|2096|1||SNV|HGNC|HGNC:50701||||5||||||||||||||0.0094|0.0008|0.0101|0|0.0219|0.0174||||||||||0.01698|0.005171|0.0307|0.01658|0.01008|0|0.008297|0.01582|0.02698|0.01579|0.01893|0.0307|gnomADg_AMI|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000585768|lncRNA||1/1|ENST00000585768.5:n.125-3998C>T|||||||rs369030935||1||SNV|HGNC|HGNC:50701||||5||||||||||||||0.0094|0.0008|0.0101|0|0.0219|0.0174||||||||||0.01698|0.005171|0.0307|0.01658|0.01008|0|0.008297|0.01582|0.02698|0.01579|0.01893|0.0307|gnomADg_AMI|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000586288|lncRNA||3/6|ENST00000586288.1:n.371+2027C>T|||||||rs369030935||1||SNV|HGNC|HGNC:50701||||5||||||||||||||0.0094|0.0008|0.0101|0|0.0219|0.0174||||||||||0.01698|0.005171|0.0307|0.01658|0.01008|0|0.008297|0.01582|0.02698|0.01579|0.01893|0.0307|gnomADg_AMI|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000587530|lncRNA||1/3|ENST00000587530.5:n.125-5958C>T|||||||rs369030935||1||SNV|HGNC|HGNC:50701||||5||||||||||||||0.0094|0.0008|0.0101|0|0.0219|0.0174||||||||||0.01698|0.005171|0.0307|0.01658|0.01008|0|0.008297|0.01582|0.02698|0.01579|0.01893|0.0307|gnomADg_AMI|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000588951|lncRNA||1/3|ENST00000588951.5:n.125-6310C>T|||||||rs369030935||1||SNV|HGNC|HGNC:50701||||5||||||||||||||0.0094|0.0008|0.0101|0|0.0219|0.0174||||||||||0.01698|0.005171|0.0307|0.01658|0.01008|0|0.008297|0.01582|0.02698|0.01579|0.01893|0.0307|gnomADg_AMI|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000589531|lncRNA||1/3|ENST00000589531.5:n.125-6313C>T|||||||rs369030935||1||SNV|HGNC|HGNC:50701||||5||||||||||||||0.0094|0.0008|0.0101|0|0.0219|0.0174||||||||||0.01698|0.005171|0.0307|0.01658|0.01008|0|0.008297|0.01582|0.02698|0.01579|0.01893|0.0307|gnomADg_AMI|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000590848|lncRNA||3/4|ENST00000590848.5:n.397+2027C>T|||||||rs369030935||1||SNV|HGNC|HGNC:50701||||5||||||||||||||0.0094|0.0008|0.0101|0|0.0219|0.0174||||||||||0.01698|0.005171|0.0307|0.01658|0.01008|0|0.008297|0.01582|0.02698|0.01579|0.01893|0.0307|gnomADg_AMI|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000591440|lncRNA||1/2|ENST00000591440.5:n.125-6310C>T|||||||rs369030935||1||SNV|HGNC|HGNC:50701||||5||||||||||||||0.0094|0.0008|0.0101|0|0.0219|0.0174||||||||||0.01698|0.005171|0.0307|0.01658|0.01008|0|0.008297|0.01582|0.02698|0.01579|0.01893|0.0307|gnomADg_AMI|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000593022|lncRNA||1/3|ENST00000593022.5:n.125-6310C>T|||||||rs369030935||1||SNV|HGNC|HGNC:50701||||5||||||||||||||0.0094|0.0008|0.0101|0|0.0219|0.0174||||||||||0.01698|0.005171|0.0307|0.01658|0.01008|0|0.008297|0.01582|0.02698|0.01579|0.01893|0.0307|gnomADg_AMI|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+30061G>A|||||||rs369030935||-1||SNV|||YES|||5||||||||||||||0.0094|0.0008|0.0101|0|0.0219|0.0174||||||||||0.01698|0.005171|0.0307|0.01658|0.01008|0|0.008297|0.01582|0.02698|0.01579|0.01893|0.0307|gnomADg_AMI|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+30061G>A|||||||rs369030935||-1||SNV||||||5||||||||||||||0.0094|0.0008|0.0101|0|0.0219|0.0174||||||||||0.01698|0.005171|0.0307|0.01658|0.01008|0|0.008297|0.01582|0.02698|0.01579|0.01893|0.0307|gnomADg_AMI|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000651411|lncRNA||1/3|ENST00000651411.1:n.245-5958C>T|||||||rs369030935||1||SNV|HGNC|HGNC:50701||||||||||||||||||0.0094|0.0008|0.0101|0|0.0219|0.0174||||||||||0.01698|0.005171|0.0307|0.01658|0.01008|0|0.008297|0.01582|0.02698|0.01579|0.01893|0.0307|gnomADg_AMI|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000655765|lncRNA||1/2|ENST00000655765.1:n.347-6310C>T|||||||rs369030935||1||SNV|HGNC|HGNC:50701||||||||||||||||||0.0094|0.0008|0.0101|0|0.0219|0.0174||||||||||0.01698|0.005171|0.0307|0.01658|0.01008|0|0.008297|0.01582|0.02698|0.01579|0.01893|0.0307|gnomADg_AMI|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000656571|lncRNA||1/4|ENST00000656571.1:n.292-6310C>T|||||||rs369030935||1||SNV|HGNC|HGNC:50701||||||||||||||||||0.0094|0.0008|0.0101|0|0.0219|0.0174||||||||||0.01698|0.005171|0.0307|0.01658|0.01008|0|0.008297|0.01582|0.02698|0.01579|0.01893|0.0307|gnomADg_AMI|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000657896|lncRNA||1/3|ENST00000657896.1:n.334-6310C>T|||||||rs369030935||1||SNV|HGNC|HGNC:50701||||||||||||||||||0.0094|0.0008|0.0101|0|0.0219|0.0174||||||||||0.01698|0.005171|0.0307|0.01658|0.01008|0|0.008297|0.01582|0.02698|0.01579|0.01893|0.0307|gnomADg_AMI|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000658648|lncRNA||1/4|ENST00000658648.1:n.298-6310C>T|||||||rs369030935||1||SNV|HGNC|HGNC:50701||||||||||||||||||0.0094|0.0008|0.0101|0|0.0219|0.0174||||||||||0.01698|0.005171|0.0307|0.01658|0.01008|0|0.008297|0.01582|0.02698|0.01579|0.01893|0.0307|gnomADg_AMI|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000665719|lncRNA||1/4|ENST00000665719.1:n.282-6310C>T|||||||rs369030935||1||SNV|HGNC|HGNC:50701||||||||||||||||||0.0094|0.0008|0.0101|0|0.0219|0.0174||||||||||0.01698|0.005171|0.0307|0.01658|0.01008|0|0.008297|0.01582|0.02698|0.01579|0.01893|0.0307|gnomADg_AMI|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000666217|lncRNA||1/3|ENST00000666217.1:n.282-6310C>T|||||||rs369030935||1||SNV|HGNC|HGNC:50701||||||||||||||||||0.0094|0.0008|0.0101|0|0.0219|0.0174||||||||||0.01698|0.005171|0.0307|0.01658|0.01008|0|0.008297|0.01582|0.02698|0.01579|0.01893|0.0307|gnomADg_AMI|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000669749|lncRNA||1/3|ENST00000669749.1:n.285-6310C>T|||||||rs369030935||1||SNV|HGNC|HGNC:50701||||||||||||||||||0.0094|0.0008|0.0101|0|0.0219|0.0174||||||||||0.01698|0.005171|0.0307|0.01658|0.01008|0|0.008297|0.01582|0.02698|0.01579|0.01893|0.0307|gnomADg_AMI|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000670700|lncRNA||1/4|ENST00000670700.1:n.336-6310C>T|||||||rs369030935||1||SNV|HGNC|HGNC:50701||||||||||||||||||0.0094|0.0008|0.0101|0|0.0219|0.0174||||||||||0.01698|0.005171|0.0307|0.01658|0.01008|0|0.008297|0.01582|0.02698|0.01579|0.01893|0.0307|gnomADg_AMI|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918343|enhancer||||||||||rs369030935||||SNV||||||||||||||||||||0.0094|0.0008|0.0101|0|0.0219|0.0174||||||||||0.01698|0.005171|0.0307|0.01658|0.01008|0|0.008297|0.01582|0.02698|0.01579|0.01893|0.0307|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 806366 . A G . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,34;MFRL=0,0;MMQ=60,21;MPOS=79;POPAF=7.3;TLOD=4.85;SRC=custom;GRP=custom;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000412115|lncRNA||3/4|ENST00000412115.2:n.810-851A>G|||||||||1||SNV|HGNC|HGNC:50701|YES|||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000429505|lncRNA|||||||||||1096|1||SNV|HGNC|HGNC:50701||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000443772|lncRNA||3/3|ENST00000443772.2:n.614-851A>G|||||||||1||SNV|HGNC|HGNC:50701||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290784|Transcript|ENST00000447500|lncRNA||3/4|ENST00000447500.4:n.495-475T>C|||||||||-1||SNV|||YES|||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000585768|lncRNA|||||||||||4490|1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000586288|lncRNA||6/6|ENST00000586288.1:n.936-851A>G|||||||||1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000587530|lncRNA|||||||||||1096|1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000588951|lncRNA||2/3|ENST00000588951.5:n.429-851A>G|||||||||1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000589531|lncRNA||3/3|ENST00000589531.5:n.617-851A>G|||||||||1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230092|Transcript|ENST00000590817|transcribed_unprocessed_pseudogene||2/2|ENST00000590817.3:n.146-475T>C|||||||||-1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000590848|lncRNA|||||||||||1534|1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000591440|lncRNA|||||||||||1239|1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000593022|lncRNA||3/3|ENST00000593022.5:n.620-20A>G|||||||||1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+21304T>C|||||||||-1||SNV|||YES|||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+21304T>C|||||||||-1||SNV||||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000651411|lncRNA|||||||||||1094|1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000655384|lncRNA|2/2||ENST00000655384.1:n.1978A>G||1978|||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000655765|lncRNA|||||||||||372|1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000656571|lncRNA||3/4|ENST00000656571.1:n.661-851A>G|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000657896|lncRNA||2/3|ENST00000657896.1:n.638-851A>G|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000658648|lncRNA||3/4|ENST00000658648.1:n.667-851A>G|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000665719|lncRNA||3/4|ENST00000665719.1:n.777-851A>G|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000666217|lncRNA||3/3|ENST00000666217.1:n.776+1400A>G|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000667728|lncRNA|2/2||ENST00000667728.1:n.1880A>G||1880|||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000669749|lncRNA||2/3|ENST00000669749.1:n.589-851A>G|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000670700|lncRNA||3/4|ENST00000670700.1:n.831-851A>G|||||||||1||SNV|HGNC|HGNC:50701|||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 809378 . C A . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=1%2C2|1%2C1;DP=5;ECNT=1;GERMQ=38;MBQ=34,33;MFRL=0,0;MMQ=22,21;MPOS=67;POPAF=7.3;TLOD=4.07;SRC=custom;GRP=custom;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000412115|lncRNA||4/4|ENST00000412115.2:n.917-244C>A|||||||||1||SNV|HGNC|HGNC:50701|YES|||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000429505|lncRNA|||||||||||4108|1||SNV|HGNC|HGNC:50701||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000443772|lncRNA|||||||||||1000|1||SNV|HGNC|HGNC:50701||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290784|Transcript|ENST00000447500|lncRNA||2/4|ENST00000447500.4:n.444+689G>T|||||||||-1||SNV|||YES|||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000586288|lncRNA|||||||||||2057|1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000587530|lncRNA|||||||||||4108|1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000588951|lncRNA||3/3|ENST00000588951.5:n.536-280C>A|||||||||1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000589531|lncRNA|||||||||||2064|1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230092|Transcript|ENST00000590817|transcribed_unprocessed_pseudogene||1/2|ENST00000590817.3:n.95+689G>T|||||||||-1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000590848|lncRNA|||||||||||4546|1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000591440|lncRNA|||||||||||4251|1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000593022|lncRNA|||||||||||2919|1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+18292G>T|||||||||-1||SNV|||YES|||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+18292G>T|||||||||-1||SNV||||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000651411|lncRNA|||||||||||4106|1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000655384|lncRNA|||||||||||2798|1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000655765|lncRNA|||||||||||3384|1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000656571|lncRNA||4/4|ENST00000656571.1:n.768-280C>A|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000657896|lncRNA||3/3|ENST00000657896.1:n.745-244C>A|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000658648|lncRNA||4/4|ENST00000658648.1:n.774-244C>A|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000665719|lncRNA||4/4|ENST00000665719.1:n.884-280C>A|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000666217|lncRNA||3/3|ENST00000666217.1:n.777-280C>A|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000667728|lncRNA|||||||||||1943|1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000669749|lncRNA||3/3|ENST00000669749.1:n.696-280C>A|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000670700|lncRNA||4/4|ENST00000670700.1:n.938-244C>A|||||||||1||SNV|HGNC|HGNC:50701|||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,2:0.4:5:1,0:1,1:2,1:1,2,1,1 -chr1 817186 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|6%2C5;DP=12;ECNT=4;GERMQ=72;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=45;POPAF=7.3;TLOD=33.35;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER|FAM87B|ENSG00000177757|Transcript|ENST00000326734|lncRNA||||||||||rs3094315|185|1||SNV|HGNC|HGNC:32236|YES|||2||||||||||||||0.7183|0.3873|0.804|0.8839|0.84|0.8088||||||||||0.712|0.4357|0.7368|0.7852|0.7844|0.888|0.7968|0.7563|0.8258|0.7467|0.7927|0.888|gnomADg_EAS||||21159730&21492446&23664118&19096721|||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290784|Transcript|ENST00000447500|lncRNA||1/4|ENST00000447500.4:n.340+187C>T|||||||rs3094315||-1||SNV|||YES|||5||||||||||||||0.7183|0.3873|0.804|0.8839|0.84|0.8088||||||||||0.712|0.4357|0.7368|0.7852|0.7844|0.888|0.7968|0.7563|0.8258|0.7467|0.7927|0.888|gnomADg_EAS||||21159730&21492446&23664118&19096721|||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+10484C>T|||||||rs3094315||-1||SNV|||YES|||5||||||||||||||0.7183|0.3873|0.804|0.8839|0.84|0.8088||||||||||0.712|0.4357|0.7368|0.7852|0.7844|0.888|0.7968|0.7563|0.8258|0.7467|0.7927|0.888|gnomADg_EAS||||21159730&21492446&23664118&19096721|||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+10484C>T|||||||rs3094315||-1||SNV||||||5||||||||||||||0.7183|0.3873|0.804|0.8839|0.84|0.8088||||||||||0.712|0.4357|0.7368|0.7852|0.7844|0.888|0.7968|0.7563|0.8258|0.7467|0.7927|0.888|gnomADg_EAS||||21159730&21492446&23664118&19096721|||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000085|promoter||||||||||rs3094315||||SNV||||||||||||||||||||0.7183|0.3873|0.804|0.8839|0.84|0.8088||||||||||0.712|0.4357|0.7368|0.7852|0.7844|0.888|0.7968|0.7563|0.8258|0.7467|0.7927|0.888|gnomADg_EAS||||21159730&21492446&23664118&19096721||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,11:0.889:11:0,1:0,5:0,7:0,0,6,5 -chr1 817186 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|11%2C11;DP=23;ECNT=2;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,38;MPOS=79;POPAF=7.3;TLOD=77.24;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER|FAM87B|ENSG00000177757|Transcript|ENST00000326734|lncRNA||||||||||rs3094315|185|1||SNV|HGNC|HGNC:32236|YES|||2||||||||||||||0.7183|0.3873|0.804|0.8839|0.84|0.8088||||||||||0.712|0.4357|0.7368|0.7852|0.7844|0.888|0.7968|0.7563|0.8258|0.7467|0.7927|0.888|gnomADg_EAS||||21159730&21492446&23664118&19096721|||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290784|Transcript|ENST00000447500|lncRNA||1/4|ENST00000447500.4:n.340+187C>T|||||||rs3094315||-1||SNV|||YES|||5||||||||||||||0.7183|0.3873|0.804|0.8839|0.84|0.8088||||||||||0.712|0.4357|0.7368|0.7852|0.7844|0.888|0.7968|0.7563|0.8258|0.7467|0.7927|0.888|gnomADg_EAS||||21159730&21492446&23664118&19096721|||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+10484C>T|||||||rs3094315||-1||SNV|||YES|||5||||||||||||||0.7183|0.3873|0.804|0.8839|0.84|0.8088||||||||||0.712|0.4357|0.7368|0.7852|0.7844|0.888|0.7968|0.7563|0.8258|0.7467|0.7927|0.888|gnomADg_EAS||||21159730&21492446&23664118&19096721|||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+10484C>T|||||||rs3094315||-1||SNV||||||5||||||||||||||0.7183|0.3873|0.804|0.8839|0.84|0.8088||||||||||0.712|0.4357|0.7368|0.7852|0.7844|0.888|0.7968|0.7563|0.8258|0.7467|0.7927|0.888|gnomADg_EAS||||21159730&21492446&23664118&19096721|||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000085|promoter||||||||||rs3094315||||SNV||||||||||||||||||||0.7183|0.3873|0.804|0.8839|0.84|0.8088||||||||||0.712|0.4357|0.7368|0.7852|0.7844|0.888|0.7968|0.7563|0.8258|0.7467|0.7927|0.888|gnomADg_EAS||||21159730&21492446&23664118&19096721||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,22:0.933:22:0,2:0,11:0,13:0,0,11,11 -chr1 817257 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=3%2C1|2%2C4;DP=10;ECNT=4;GERMQ=35;MBQ=31,34;MFRL=0,0;MMQ=45,60;MPOS=77;POPAF=7.3;TLOD=20.61;SRC=custom;GRP=custom;CSQ=C|upstream_gene_variant|MODIFIER|FAM87B|ENSG00000177757|Transcript|ENST00000326734|lncRNA||||||||||rs1638455496|114|1||SNV|HGNC|HGNC:32236|YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290784|Transcript|ENST00000447500|lncRNA||1/4|ENST00000447500.4:n.340+116A>G|||||||rs1638455496||-1||SNV|||YES|||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+10413A>G|||||||rs1638455496||-1||SNV|||YES|||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+10413A>G|||||||rs1638455496||-1||SNV||||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000085|promoter||||||||||rs1638455496||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,6:0.556:10:0,0:3,2:3,4:3,1,2,4 -chr1 817257 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=5%2C2|7%2C11;DP=27;ECNT=3;GERMQ=42;MBQ=32,34;MFRL=0,0;MMQ=60,60;MPOS=57;POPAF=7.3;TLOD=60.22;SRC=custom;GRP=custom;CSQ=C|upstream_gene_variant|MODIFIER|FAM87B|ENSG00000177757|Transcript|ENST00000326734|lncRNA||||||||||rs1638455496|114|1||SNV|HGNC|HGNC:32236|YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290784|Transcript|ENST00000447500|lncRNA||1/4|ENST00000447500.4:n.340+116A>G|||||||rs1638455496||-1||SNV|||YES|||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+10413A>G|||||||rs1638455496||-1||SNV|||YES|||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+10413A>G|||||||rs1638455496||-1||SNV||||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000085|promoter||||||||||rs1638455496||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,18:0.632:25:1,4:5,7:6,11:5,2,7,11 -chr1 817285 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=13%2C12|1%2C1;DP=28;ECNT=3;GERMQ=83;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=42;POPAF=7.3;TLOD=5.17;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER|FAM87B|ENSG00000177757|Transcript|ENST00000326734|lncRNA|||||||||||86|1||SNV|HGNC|HGNC:32236|YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290784|Transcript|ENST00000447500|lncRNA||1/4|ENST00000447500.4:n.340+88C>T|||||||||-1||SNV|||YES|||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+10385C>T|||||||||-1||SNV|||YES|||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+10385C>T|||||||||-1||SNV||||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000085|promoter||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:25,2:0.118:27:1,0:13,1:14,1:13,12,1,1 -chr1 817341 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|9%2C10;DP=19;ECNT=3;GERMQ=93;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=63;POPAF=7.3;TLOD=62.54;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER|FAM87B|ENSG00000177757|Transcript|ENST00000326734|lncRNA||||||||||rs3131972|30|1||SNV|HGNC|HGNC:32236|YES|||2||||||||||||||0.6534|0.2905|0.7363|0.7659|0.839|0.7781||||||||||0.6773|0.354|0.7368|0.7224|0.7766|0.7605|0.7955|0.7516|0.8248|0.7152|0.7685|0.839|EUR|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290784|Transcript|ENST00000447500|lncRNA||1/4|ENST00000447500.4:n.340+32T>C|||||||rs3131972||-1||SNV|||YES|||5||||||||||||||0.6534|0.2905|0.7363|0.7659|0.839|0.7781||||||||||0.6773|0.354|0.7368|0.7224|0.7766|0.7605|0.7955|0.7516|0.8248|0.7152|0.7685|0.839|EUR|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+10329T>C|||||||rs3131972||-1||SNV|||YES|||5||||||||||||||0.6534|0.2905|0.7363|0.7659|0.839|0.7781||||||||||0.6773|0.354|0.7368|0.7224|0.7766|0.7605|0.7955|0.7516|0.8248|0.7152|0.7685|0.839|EUR|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+10329T>C|||||||rs3131972||-1||SNV||||||5||||||||||||||0.6534|0.2905|0.7363|0.7659|0.839|0.7781||||||||||0.6773|0.354|0.7368|0.7224|0.7766|0.7605|0.7955|0.7516|0.8248|0.7152|0.7685|0.839|EUR|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000085|promoter||||||||||rs3131972||||SNV||||||||||||||||||||0.6534|0.2905|0.7363|0.7659|0.839|0.7781||||||||||0.6773|0.354|0.7368|0.7224|0.7766|0.7605|0.7955|0.7516|0.8248|0.7152|0.7685|0.839|EUR|||||||||||||,G|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00484765438|||||||||||rs3131972||1||SNV||||||||||||||||||||0.6534|0.2905|0.7363|0.7659|0.839|0.7781||||||||||0.6773|0.354|0.7368|0.7224|0.7766|0.7605|0.7955|0.7516|0.8248|0.7152|0.7685|0.839|EUR|||||ENSPFM0577|8|N|0.006|TEAD4::SOX6|||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,19:0.917:19:0,0:0,6:0,10:0,0,9,10 -chr1 817889 . C G . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,33;MFRL=0,0;MMQ=60,21;MPOS=132;POPAF=7.3;TLOD=4.85;SRC=custom;GRP=custom;CSQ=G|non_coding_transcript_exon_variant|MODIFIER|FAM87B|ENSG00000177757|Transcript|ENST00000326734|lncRNA|1/2||ENST00000326734.2:n.519C>G||519|||||rs3115861||1||SNV|HGNC|HGNC:32236|YES|||2|||||||||||||||||||||||||||||0.9775|0.9247|1|0.9892|0.9977|1|1|0.9871|0.9983|0.9818|0.9998|1|gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000290784|Transcript|ENST00000447500|lncRNA||||||||||rs3115861|177|-1||SNV|||YES|||5|||||||||||||||||||||||||||||0.9775|0.9247|1|0.9892|0.9977|1|1|0.9871|0.9983|0.9818|0.9998|1|gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+9781G>C|||||||rs3115861||-1||SNV|||YES|||5|||||||||||||||||||||||||||||0.9775|0.9247|1|0.9892|0.9977|1|1|0.9871|0.9983|0.9818|0.9998|1|gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+9781G>C|||||||rs3115861||-1||SNV||||||5|||||||||||||||||||||||||||||0.9775|0.9247|1|0.9892|0.9977|1|1|0.9871|0.9983|0.9818|0.9998|1|gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000085|promoter||||||||||rs3115861||||SNV|||||||||||||||||||||||||||||||||||0.9775|0.9247|1|0.9892|0.9977|1|1|0.9871|0.9983|0.9818|0.9998|1|gnomADg_AMI&gnomADg_EAS&gnomADg_FIN||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 818094 . C G . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|2%2C1;DP=3;ECNT=1;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,28;MPOS=26;POPAF=7.3;TLOD=9.35;SRC=custom;GRP=custom;CSQ=G|non_coding_transcript_exon_variant|MODIFIER|FAM87B|ENSG00000177757|Transcript|ENST00000326734|lncRNA|1/2||ENST00000326734.2:n.724C>G||724|||||rs2073814||1||SNV|HGNC|HGNC:32236|YES|||2||||||||||||||0.6114|0.1672|0.7233|0.7292|0.838|0.7781||||||||||0.6462|0.2551|0.74|0.7075|0.7763|0.7268|0.7954|0.7342|0.8229|0.6887|0.7668|0.838|EUR|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000290784|Transcript|ENST00000447500|lncRNA||||||||||rs2073814|382|-1||SNV|||YES|||5||||||||||||||0.6114|0.1672|0.7233|0.7292|0.838|0.7781||||||||||0.6462|0.2551|0.74|0.7075|0.7763|0.7268|0.7954|0.7342|0.8229|0.6887|0.7668|0.838|EUR|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+9576G>C|||||||rs2073814||-1||SNV|||YES|||5||||||||||||||0.6114|0.1672|0.7233|0.7292|0.838|0.7781||||||||||0.6462|0.2551|0.74|0.7075|0.7763|0.7268|0.7954|0.7342|0.8229|0.6887|0.7668|0.838|EUR|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+9576G>C|||||||rs2073814||-1||SNV||||||5||||||||||||||0.6114|0.1672|0.7233|0.7292|0.838|0.7781||||||||||0.6462|0.2551|0.74|0.7075|0.7763|0.7268|0.7954|0.7342|0.8229|0.6887|0.7668|0.838|EUR|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000085|promoter||||||||||rs2073814||||SNV||||||||||||||||||||0.6114|0.1672|0.7233|0.7292|0.838|0.7781||||||||||0.6462|0.2551|0.74|0.7075|0.7763|0.7268|0.7954|0.7342|0.8229|0.6887|0.7668|0.838|EUR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,0:0,2:0,2:0,0,2,1 -chr1 818094 . C G . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|3%2C3;DP=6;ECNT=1;GERMQ=58;MBQ=0,34;MFRL=0,0;MMQ=60,28;MPOS=105;POPAF=7.3;TLOD=19.06;SRC=custom;GRP=custom;CSQ=G|non_coding_transcript_exon_variant|MODIFIER|FAM87B|ENSG00000177757|Transcript|ENST00000326734|lncRNA|1/2||ENST00000326734.2:n.724C>G||724|||||rs2073814||1||SNV|HGNC|HGNC:32236|YES|||2||||||||||||||0.6114|0.1672|0.7233|0.7292|0.838|0.7781||||||||||0.6462|0.2551|0.74|0.7075|0.7763|0.7268|0.7954|0.7342|0.8229|0.6887|0.7668|0.838|EUR|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000290784|Transcript|ENST00000447500|lncRNA||||||||||rs2073814|382|-1||SNV|||YES|||5||||||||||||||0.6114|0.1672|0.7233|0.7292|0.838|0.7781||||||||||0.6462|0.2551|0.74|0.7075|0.7763|0.7268|0.7954|0.7342|0.8229|0.6887|0.7668|0.838|EUR|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+9576G>C|||||||rs2073814||-1||SNV|||YES|||5||||||||||||||0.6114|0.1672|0.7233|0.7292|0.838|0.7781||||||||||0.6462|0.2551|0.74|0.7075|0.7763|0.7268|0.7954|0.7342|0.8229|0.6887|0.7668|0.838|EUR|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+9576G>C|||||||rs2073814||-1||SNV||||||5||||||||||||||0.6114|0.1672|0.7233|0.7292|0.838|0.7781||||||||||0.6462|0.2551|0.74|0.7075|0.7763|0.7268|0.7954|0.7342|0.8229|0.6887|0.7668|0.838|EUR|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000085|promoter||||||||||rs2073814||||SNV||||||||||||||||||||0.6114|0.1672|0.7233|0.7292|0.838|0.7781||||||||||0.6462|0.2551|0.74|0.7075|0.7763|0.7268|0.7954|0.7342|0.8229|0.6887|0.7668|0.838|EUR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.833:6:0,1:0,3:0,4:0,0,3,3 -chr1 818802 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C2;DP=6;ECNT=2;GERMQ=58;MBQ=0,32;MFRL=0,0;MMQ=60,41;MPOS=94;POPAF=7.3;TLOD=26.3;SRC=custom;GRP=custom;CSQ=G|non_coding_transcript_exon_variant|MODIFIER|FAM87B|ENSG00000177757|Transcript|ENST00000326734|lncRNA|2/2||ENST00000326734.2:n.912A>G||912|||||rs3131969||1||SNV|HGNC|HGNC:32236|YES|||2||||||||||||||0.6785|0.3525|0.7565|0.7331|0.8718|0.8088||||||||||0.71|0.4015|0.771|0.7436|0.8458|0.7284|0.8074|0.8097|0.8575|0.7483|0.8041|0.8718|EUR|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000290784|Transcript|ENST00000447500|lncRNA||||||||||rs3131969|1090|-1||SNV|||YES|||5||||||||||||||0.6785|0.3525|0.7565|0.7331|0.8718|0.8088||||||||||0.71|0.4015|0.771|0.7436|0.8458|0.7284|0.8074|0.8097|0.8575|0.7483|0.8041|0.8718|EUR|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+8868T>C|||||||rs3131969||-1||SNV|||YES|||5||||||||||||||0.6785|0.3525|0.7565|0.7331|0.8718|0.8088||||||||||0.71|0.4015|0.771|0.7436|0.8458|0.7284|0.8074|0.8097|0.8575|0.7483|0.8041|0.8718|EUR|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+8868T>C|||||||rs3131969||-1||SNV||||||5||||||||||||||0.6785|0.3525|0.7565|0.7331|0.8718|0.8088||||||||||0.71|0.4015|0.771|0.7436|0.8458|0.7284|0.8074|0.8097|0.8575|0.7483|0.8041|0.8718|EUR|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000085|promoter||||||||||rs3131969||||SNV||||||||||||||||||||0.6785|0.3525|0.7565|0.7331|0.8718|0.8088||||||||||0.71|0.4015|0.771|0.7436|0.8458|0.7284|0.8074|0.8097|0.8575|0.7483|0.8041|0.8718|EUR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,6:0.833:6:0,0:0,4:0,4:0|1:818802_A_G:818802:0,0,4,2 -chr1 818802 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=2;GERMQ=44;MBQ=0,31;MFRL=0,0;MMQ=60,41;MPOS=58;POPAF=7.3;TLOD=4.2;SRC=custom;GRP=custom;CSQ=G|non_coding_transcript_exon_variant|MODIFIER|FAM87B|ENSG00000177757|Transcript|ENST00000326734|lncRNA|2/2||ENST00000326734.2:n.912A>G||912|||||rs3131969||1||SNV|HGNC|HGNC:32236|YES|||2||||||||||||||0.6785|0.3525|0.7565|0.7331|0.8718|0.8088||||||||||0.71|0.4015|0.771|0.7436|0.8458|0.7284|0.8074|0.8097|0.8575|0.7483|0.8041|0.8718|EUR|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000290784|Transcript|ENST00000447500|lncRNA||||||||||rs3131969|1090|-1||SNV|||YES|||5||||||||||||||0.6785|0.3525|0.7565|0.7331|0.8718|0.8088||||||||||0.71|0.4015|0.771|0.7436|0.8458|0.7284|0.8074|0.8097|0.8575|0.7483|0.8041|0.8718|EUR|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+8868T>C|||||||rs3131969||-1||SNV|||YES|||5||||||||||||||0.6785|0.3525|0.7565|0.7331|0.8718|0.8088||||||||||0.71|0.4015|0.771|0.7436|0.8458|0.7284|0.8074|0.8097|0.8575|0.7483|0.8041|0.8718|EUR|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+8868T>C|||||||rs3131969||-1||SNV||||||5||||||||||||||0.6785|0.3525|0.7565|0.7331|0.8718|0.8088||||||||||0.71|0.4015|0.771|0.7436|0.8458|0.7284|0.8074|0.8097|0.8575|0.7483|0.8041|0.8718|EUR|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000085|promoter||||||||||rs3131969||||SNV||||||||||||||||||||0.6785|0.3525|0.7565|0.7331|0.8718|0.8088||||||||||0.71|0.4015|0.771|0.7436|0.8458|0.7284|0.8074|0.8097|0.8575|0.7483|0.8041|0.8718|EUR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,1:0,0:0,1:0|1:818802_A_G:818802:0,0,0,1 -chr1 818812 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C2;DP=6;ECNT=2;GERMQ=58;MBQ=0,32;MFRL=0,0;MMQ=60,41;MPOS=85;POPAF=7.3;TLOD=26.3;SRC=custom;GRP=custom;CSQ=G|non_coding_transcript_exon_variant|MODIFIER|FAM87B|ENSG00000177757|Transcript|ENST00000326734|lncRNA|2/2||ENST00000326734.2:n.922A>G||922|||||rs3131968||1||SNV|HGNC|HGNC:32236|YES|||2||||||||||||||0.6785|0.3525|0.7565|0.7331|0.8718|0.8088||||||||||0.7106|0.4024|0.7721|0.7438|0.8459|0.7294|0.8073|0.8109|0.8575|0.75|0.8042|0.8718|EUR|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000290784|Transcript|ENST00000447500|lncRNA||||||||||rs3131968|1100|-1||SNV|||YES|||5||||||||||||||0.6785|0.3525|0.7565|0.7331|0.8718|0.8088||||||||||0.7106|0.4024|0.7721|0.7438|0.8459|0.7294|0.8073|0.8109|0.8575|0.75|0.8042|0.8718|EUR|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+8858T>C|||||||rs3131968||-1||SNV|||YES|||5||||||||||||||0.6785|0.3525|0.7565|0.7331|0.8718|0.8088||||||||||0.7106|0.4024|0.7721|0.7438|0.8459|0.7294|0.8073|0.8109|0.8575|0.75|0.8042|0.8718|EUR|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+8858T>C|||||||rs3131968||-1||SNV||||||5||||||||||||||0.6785|0.3525|0.7565|0.7331|0.8718|0.8088||||||||||0.7106|0.4024|0.7721|0.7438|0.8459|0.7294|0.8073|0.8109|0.8575|0.75|0.8042|0.8718|EUR|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000085|promoter||||||||||rs3131968||||SNV||||||||||||||||||||0.6785|0.3525|0.7565|0.7331|0.8718|0.8088||||||||||0.7106|0.4024|0.7721|0.7438|0.8459|0.7294|0.8073|0.8109|0.8575|0.75|0.8042|0.8718|EUR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,6:0.833:6:0,0:0,4:0,4:0|1:818802_A_G:818802:0,0,4,2 -chr1 818812 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=2;GERMQ=44;MBQ=0,35;MFRL=0,0;MMQ=60,41;MPOS=68;POPAF=7.3;TLOD=4.13;SRC=custom;GRP=custom;CSQ=G|non_coding_transcript_exon_variant|MODIFIER|FAM87B|ENSG00000177757|Transcript|ENST00000326734|lncRNA|2/2||ENST00000326734.2:n.922A>G||922|||||rs3131968||1||SNV|HGNC|HGNC:32236|YES|||2||||||||||||||0.6785|0.3525|0.7565|0.7331|0.8718|0.8088||||||||||0.7106|0.4024|0.7721|0.7438|0.8459|0.7294|0.8073|0.8109|0.8575|0.75|0.8042|0.8718|EUR|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000290784|Transcript|ENST00000447500|lncRNA||||||||||rs3131968|1100|-1||SNV|||YES|||5||||||||||||||0.6785|0.3525|0.7565|0.7331|0.8718|0.8088||||||||||0.7106|0.4024|0.7721|0.7438|0.8459|0.7294|0.8073|0.8109|0.8575|0.75|0.8042|0.8718|EUR|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+8858T>C|||||||rs3131968||-1||SNV|||YES|||5||||||||||||||0.6785|0.3525|0.7565|0.7331|0.8718|0.8088||||||||||0.7106|0.4024|0.7721|0.7438|0.8459|0.7294|0.8073|0.8109|0.8575|0.75|0.8042|0.8718|EUR|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+8858T>C|||||||rs3131968||-1||SNV||||||5||||||||||||||0.6785|0.3525|0.7565|0.7331|0.8718|0.8088||||||||||0.7106|0.4024|0.7721|0.7438|0.8459|0.7294|0.8073|0.8109|0.8575|0.75|0.8042|0.8718|EUR|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000085|promoter||||||||||rs3131968||||SNV||||||||||||||||||||0.6785|0.3525|0.7565|0.7331|0.8718|0.8088||||||||||0.7106|0.4024|0.7721|0.7438|0.8459|0.7294|0.8073|0.8109|0.8575|0.75|0.8042|0.8718|EUR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.684:1:0,1:0,0:0,1:0|1:818802_A_G:818802:0,0,0,1 -chr1 818954 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=1;GERMQ=49;MBQ=0,32;MFRL=0,0;MMQ=60,41;MPOS=53;POPAF=7.3;TLOD=10.35;SRC=custom;GRP=custom;CSQ=C|non_coding_transcript_exon_variant|MODIFIER|FAM87B|ENSG00000177757|Transcript|ENST00000326734|lncRNA|2/2||ENST00000326734.2:n.1064T>C||1064|||||rs3131967||1||SNV|HGNC|HGNC:32236|YES|||2||||||||||||||0.6843|0.3525|0.755|0.7629|0.8718|0.8088||||||||||0.7112|0.4012|0.7736|0.7442|0.846|0.7586|0.8066|0.8101|0.8577|0.7522|0.8033|0.8718|EUR|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000290784|Transcript|ENST00000447500|lncRNA||||||||||rs3131967|1242|-1||SNV|||YES|||5||||||||||||||0.6843|0.3525|0.755|0.7629|0.8718|0.8088||||||||||0.7112|0.4012|0.7736|0.7442|0.846|0.7586|0.8066|0.8101|0.8577|0.7522|0.8033|0.8718|EUR|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+8716A>G|||||||rs3131967||-1||SNV|||YES|||5||||||||||||||0.6843|0.3525|0.755|0.7629|0.8718|0.8088||||||||||0.7112|0.4012|0.7736|0.7442|0.846|0.7586|0.8066|0.8101|0.8577|0.7522|0.8033|0.8718|EUR|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+8716A>G|||||||rs3131967||-1||SNV||||||5||||||||||||||0.6843|0.3525|0.755|0.7629|0.8718|0.8088||||||||||0.7112|0.4012|0.7736|0.7442|0.846|0.7586|0.8066|0.8101|0.8577|0.7522|0.8033|0.8718|EUR|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000085|promoter||||||||||rs3131967||||SNV||||||||||||||||||||0.6843|0.3525|0.755|0.7629|0.8718|0.8088||||||||||0.7112|0.4012|0.7736|0.7442|0.846|0.7586|0.8066|0.8101|0.8577|0.7522|0.8033|0.8718|EUR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.8:3:0,2:0,1:0,3:0,0,1,2 -chr1 818954 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=6;ECNT=1;GERMQ=52;MBQ=0,32;MFRL=0,0;MMQ=60,31;MPOS=96;POPAF=7.3;TLOD=10.49;SRC=custom;GRP=custom;CSQ=C|non_coding_transcript_exon_variant|MODIFIER|FAM87B|ENSG00000177757|Transcript|ENST00000326734|lncRNA|2/2||ENST00000326734.2:n.1064T>C||1064|||||rs3131967||1||SNV|HGNC|HGNC:32236|YES|||2||||||||||||||0.6843|0.3525|0.755|0.7629|0.8718|0.8088||||||||||0.7112|0.4012|0.7736|0.7442|0.846|0.7586|0.8066|0.8101|0.8577|0.7522|0.8033|0.8718|EUR|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000290784|Transcript|ENST00000447500|lncRNA||||||||||rs3131967|1242|-1||SNV|||YES|||5||||||||||||||0.6843|0.3525|0.755|0.7629|0.8718|0.8088||||||||||0.7112|0.4012|0.7736|0.7442|0.846|0.7586|0.8066|0.8101|0.8577|0.7522|0.8033|0.8718|EUR|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+8716A>G|||||||rs3131967||-1||SNV|||YES|||5||||||||||||||0.6843|0.3525|0.755|0.7629|0.8718|0.8088||||||||||0.7112|0.4012|0.7736|0.7442|0.846|0.7586|0.8066|0.8101|0.8577|0.7522|0.8033|0.8718|EUR|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+8716A>G|||||||rs3131967||-1||SNV||||||5||||||||||||||0.6843|0.3525|0.755|0.7629|0.8718|0.8088||||||||||0.7112|0.4012|0.7736|0.7442|0.846|0.7586|0.8066|0.8101|0.8577|0.7522|0.8033|0.8718|EUR|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000085|promoter||||||||||rs3131967||||SNV||||||||||||||||||||0.6843|0.3525|0.755|0.7629|0.8718|0.8088||||||||||0.7112|0.4012|0.7736|0.7442|0.846|0.7586|0.8066|0.8101|0.8577|0.7522|0.8033|0.8718|EUR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.764:4:0,0:0,2:0,2:0,0,2,2 -chr1 819123 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C3;DP=6;ECNT=1;GERMQ=58;MBQ=0,33;MFRL=0,0;MMQ=60,54;MPOS=85;POPAF=7.3;TLOD=21.26;SRC=custom;GRP=custom;CSQ=A|non_coding_transcript_exon_variant|MODIFIER|FAM87B|ENSG00000177757|Transcript|ENST00000326734|lncRNA|2/2||ENST00000326734.2:n.1233G>A||1233|||||rs3115859||1||SNV|HGNC|HGNC:32236|YES|||2||||||||||||||0.6639|0.3374|0.7378|0.7629|0.839|0.771||||||||||0.687|0.3884|0.7363|0.7274|0.7761|0.7593|0.7956|0.7532|0.8248|0.7205|0.7651|0.839|EUR|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000290784|Transcript|ENST00000447500|lncRNA||||||||||rs3115859|1411|-1||SNV|||YES|||5||||||||||||||0.6639|0.3374|0.7378|0.7629|0.839|0.771||||||||||0.687|0.3884|0.7363|0.7274|0.7761|0.7593|0.7956|0.7532|0.8248|0.7205|0.7651|0.839|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+8547C>T|||||||rs3115859||-1||SNV|||YES|||5||||||||||||||0.6639|0.3374|0.7378|0.7629|0.839|0.771||||||||||0.687|0.3884|0.7363|0.7274|0.7761|0.7593|0.7956|0.7532|0.8248|0.7205|0.7651|0.839|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+8547C>T|||||||rs3115859||-1||SNV||||||5||||||||||||||0.6639|0.3374|0.7378|0.7629|0.839|0.771||||||||||0.687|0.3884|0.7363|0.7274|0.7761|0.7593|0.7956|0.7532|0.8248|0.7205|0.7651|0.839|EUR|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000085|promoter||||||||||rs3115859||||SNV||||||||||||||||||||0.6639|0.3374|0.7378|0.7629|0.839|0.771||||||||||0.687|0.3884|0.7363|0.7274|0.7761|0.7593|0.7956|0.7532|0.8248|0.7205|0.7651|0.839|EUR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.833:6:0,1:0,3:0,4:0,0,3,3 -chr1 819123 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C3;DP=5;ECNT=2;GERMQ=55;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=27;POPAF=7.3;TLOD=18.28;SRC=custom;GRP=custom;CSQ=A|non_coding_transcript_exon_variant|MODIFIER|FAM87B|ENSG00000177757|Transcript|ENST00000326734|lncRNA|2/2||ENST00000326734.2:n.1233G>A||1233|||||rs3115859||1||SNV|HGNC|HGNC:32236|YES|||2||||||||||||||0.6639|0.3374|0.7378|0.7629|0.839|0.771||||||||||0.687|0.3884|0.7363|0.7274|0.7761|0.7593|0.7956|0.7532|0.8248|0.7205|0.7651|0.839|EUR|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000290784|Transcript|ENST00000447500|lncRNA||||||||||rs3115859|1411|-1||SNV|||YES|||5||||||||||||||0.6639|0.3374|0.7378|0.7629|0.839|0.771||||||||||0.687|0.3884|0.7363|0.7274|0.7761|0.7593|0.7956|0.7532|0.8248|0.7205|0.7651|0.839|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+8547C>T|||||||rs3115859||-1||SNV|||YES|||5||||||||||||||0.6639|0.3374|0.7378|0.7629|0.839|0.771||||||||||0.687|0.3884|0.7363|0.7274|0.7761|0.7593|0.7956|0.7532|0.8248|0.7205|0.7651|0.839|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+8547C>T|||||||rs3115859||-1||SNV||||||5||||||||||||||0.6639|0.3374|0.7378|0.7629|0.839|0.771||||||||||0.687|0.3884|0.7363|0.7274|0.7761|0.7593|0.7956|0.7532|0.8248|0.7205|0.7651|0.839|EUR|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000085|promoter||||||||||rs3115859||||SNV||||||||||||||||||||0.6639|0.3374|0.7378|0.7629|0.839|0.771||||||||||0.687|0.3884|0.7363|0.7274|0.7761|0.7593|0.7956|0.7532|0.8248|0.7205|0.7651|0.839|EUR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.8:5:0,1:0,2:0,3:0,0,2,3 -chr1 819142 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C1;DP=4;ECNT=2;GERMQ=37;MBQ=34,29;MFRL=0,0;MMQ=60,51;MPOS=46;POPAF=7.3;TLOD=5.97;SRC=custom;GRP=custom;CSQ=C|non_coding_transcript_exon_variant|MODIFIER|FAM87B|ENSG00000177757|Transcript|ENST00000326734|lncRNA|2/2||ENST00000326734.2:n.1252T>C||1252|||||||1||SNV|HGNC|HGNC:32236|YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000290784|Transcript|ENST00000447500|lncRNA|||||||||||1430|-1||SNV|||YES|||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+8528A>G|||||||||-1||SNV|||YES|||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+8528A>G|||||||||-1||SNV||||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000085|promoter||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.5:4:0,0:1,1:1,1:1,1,1,1 -chr1 819584 . C T . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,32;MFRL=0,0;MMQ=60,21;MPOS=29;POPAF=7.3;TLOD=4.85;SRC=custom;GRP=custom;CSQ=T|non_coding_transcript_exon_variant|MODIFIER|FAM87B|ENSG00000177757|Transcript|ENST00000326734|lncRNA|2/2||ENST00000326734.2:n.1694C>T||1694|||||rs3131966||1||SNV|HGNC|HGNC:32236|YES|||2||||||||||||||0.6633|0.3366|0.7378|0.7629|0.837|0.771||||||||||0.6866|0.3877|0.7374|0.7259|0.7761|0.7589|0.7956|0.7532|0.8248|0.7196|0.7641|0.837|EUR|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000290784|Transcript|ENST00000447500|lncRNA||||||||||rs3131966|1872|-1||SNV|||YES|||5||||||||||||||0.6633|0.3366|0.7378|0.7629|0.837|0.771||||||||||0.6866|0.3877|0.7374|0.7259|0.7761|0.7589|0.7956|0.7532|0.8248|0.7196|0.7641|0.837|EUR|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC00115|ENSG00000225880|Transcript|ENST00000473798|lncRNA||||||||||rs3131966|4644|-1||SNV|HGNC|HGNC:26211|YES|||||||||||||||||0.6633|0.3366|0.7378|0.7629|0.837|0.771||||||||||0.6866|0.3877|0.7374|0.7259|0.7761|0.7589|0.7956|0.7532|0.8248|0.7196|0.7641|0.837|EUR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+8086G>A|||||||rs3131966||-1||SNV|||YES|||5||||||||||||||0.6633|0.3366|0.7378|0.7629|0.837|0.771||||||||||0.6866|0.3877|0.7374|0.7259|0.7761|0.7589|0.7956|0.7532|0.8248|0.7196|0.7641|0.837|EUR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+8086G>A|||||||rs3131966||-1||SNV||||||5||||||||||||||0.6633|0.3366|0.7378|0.7629|0.837|0.771||||||||||0.6866|0.3877|0.7374|0.7259|0.7761|0.7589|0.7956|0.7532|0.8248|0.7196|0.7641|0.837|EUR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 820395 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=111;POPAF=7.3;TLOD=7.35;SRC=custom;GRP=custom;CSQ=G|downstream_gene_variant|MODIFIER|FAM87B|ENSG00000177757|Transcript|ENST00000326734|lncRNA||||||||||rs3131965|558|1||SNV|HGNC|HGNC:32236|YES|||2|||||||||||||||||||||||||||||0.6612|0.4243|0.6804|0.7255|0.7446|0.8259|0.744|0.645|0.7683|0.6893|0.7359|0.8259|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000290784|Transcript|ENST00000447500|lncRNA||||||||||rs3131965|2683|-1||SNV|||YES|||5|||||||||||||||||||||||||||||0.6612|0.4243|0.6804|0.7255|0.7446|0.8259|0.744|0.645|0.7683|0.6893|0.7359|0.8259|gnomADg_EAS|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC00115|ENSG00000225880|Transcript|ENST00000473798|lncRNA||||||||||rs3131965|3833|-1||SNV|HGNC|HGNC:26211|YES||||||||||||||||||||||||||||||||0.6612|0.4243|0.6804|0.7255|0.7446|0.8259|0.744|0.645|0.7683|0.6893|0.7359|0.8259|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||||||||||rs3131965|4743|1||SNV|HGNC|HGNC:49377||||5|||||||||||||||||||||||||||||0.6612|0.4243|0.6804|0.7255|0.7446|0.8259|0.744|0.645|0.7683|0.6893|0.7359|0.8259|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+7275T>C|||||||rs3131965||-1||SNV|||YES|||5|||||||||||||||||||||||||||||0.6612|0.4243|0.6804|0.7255|0.7446|0.8259|0.744|0.645|0.7683|0.6893|0.7359|0.8259|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+7275T>C|||||||rs3131965||-1||SNV||||||5|||||||||||||||||||||||||||||0.6612|0.4243|0.6804|0.7255|0.7446|0.8259|0.744|0.645|0.7683|0.6893|0.7359|0.8259|gnomADg_EAS|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918348|enhancer||||||||||rs3131965||||SNV|||||||||||||||||||||||||||||||||||0.6612|0.4243|0.6804|0.7255|0.7446|0.8259|0.744|0.645|0.7683|0.6893|0.7359|0.8259|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 821000 . T A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,29;MFRL=0,0;MMQ=60,60;MPOS=83;POPAF=7.3;TLOD=3.08;SRC=custom;GRP=custom;CSQ=A|downstream_gene_variant|MODIFIER|FAM87B|ENSG00000177757|Transcript|ENST00000326734|lncRNA||||||||||rs3131963|1163|1||SNV|HGNC|HGNC:32236|YES|||2||||||||||||||0.4611|0.3374|0.4971|0.5139|0.507|0.501||||||||||0.6321|0.4294|0.6443|0.6926|0.6939|0.7595|0.6964|0.6779|0.7142|0.6539|0.6839|0.7595|gnomADg_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000290784|Transcript|ENST00000447500|lncRNA||||||||||rs3131963|3288|-1||SNV|||YES|||5||||||||||||||0.4611|0.3374|0.4971|0.5139|0.507|0.501||||||||||0.6321|0.4294|0.6443|0.6926|0.6939|0.7595|0.6964|0.6779|0.7142|0.6539|0.6839|0.7595|gnomADg_EAS|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC00115|ENSG00000225880|Transcript|ENST00000473798|lncRNA||||||||||rs3131963|3228|-1||SNV|HGNC|HGNC:26211|YES|||||||||||||||||0.4611|0.3374|0.4971|0.5139|0.507|0.501||||||||||0.6321|0.4294|0.6443|0.6926|0.6939|0.7595|0.6964|0.6779|0.7142|0.6539|0.6839|0.7595|gnomADg_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||||||||||rs3131963|4138|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.4611|0.3374|0.4971|0.5139|0.507|0.501||||||||||0.6321|0.4294|0.6443|0.6926|0.6939|0.7595|0.6964|0.6779|0.7142|0.6539|0.6839|0.7595|gnomADg_EAS|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+6670A>T|||||||rs3131963||-1||SNV|||YES|||5||||||||||||||0.4611|0.3374|0.4971|0.5139|0.507|0.501||||||||||0.6321|0.4294|0.6443|0.6926|0.6939|0.7595|0.6964|0.6779|0.7142|0.6539|0.6839|0.7595|gnomADg_EAS|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+6670A>T|||||||rs3131963||-1||SNV||||||5||||||||||||||0.4611|0.3374|0.4971|0.5139|0.507|0.501||||||||||0.6321|0.4294|0.6443|0.6926|0.6939|0.7595|0.6964|0.6779|0.7142|0.6539|0.6839|0.7595|gnomADg_EAS|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918348|enhancer||||||||||rs3131963||||SNV||||||||||||||||||||0.4611|0.3374|0.4971|0.5139|0.507|0.501||||||||||0.6321|0.4294|0.6443|0.6926|0.6939|0.7595|0.6964|0.6779|0.7142|0.6539|0.6839|0.7595|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 821224 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C3;DP=5;ECNT=1;GERMQ=55;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=24;POPAF=7.3;TLOD=17.3;SRC=custom;GRP=custom;CSQ=G|downstream_gene_variant|MODIFIER|FAM87B|ENSG00000177757|Transcript|ENST00000326734|lncRNA||||||||||rs3131962|1387|1||SNV|HGNC|HGNC:32236|YES|||2||||||||||||||0.7480|0.4501|0.8242|0.8829|0.8698|0.8323||||||||||0.739|0.4728|0.7597|0.8031|0.8469|0.8834|0.8033|0.7914|0.8531|0.7797|0.8195|0.8834|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000290784|Transcript|ENST00000447500|lncRNA||||||||||rs3131962|3512|-1||SNV|||YES|||5||||||||||||||0.7480|0.4501|0.8242|0.8829|0.8698|0.8323||||||||||0.739|0.4728|0.7597|0.8031|0.8469|0.8834|0.8033|0.7914|0.8531|0.7797|0.8195|0.8834|gnomADg_EAS|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC00115|ENSG00000225880|Transcript|ENST00000473798|lncRNA||||||||||rs3131962|3004|-1||SNV|HGNC|HGNC:26211|YES|||||||||||||||||0.7480|0.4501|0.8242|0.8829|0.8698|0.8323||||||||||0.739|0.4728|0.7597|0.8031|0.8469|0.8834|0.8033|0.7914|0.8531|0.7797|0.8195|0.8834|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||||||||||rs3131962|3914|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7480|0.4501|0.8242|0.8829|0.8698|0.8323||||||||||0.739|0.4728|0.7597|0.8031|0.8469|0.8834|0.8033|0.7914|0.8531|0.7797|0.8195|0.8834|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+6446T>C|||||||rs3131962||-1||SNV|||YES|||5||||||||||||||0.7480|0.4501|0.8242|0.8829|0.8698|0.8323||||||||||0.739|0.4728|0.7597|0.8031|0.8469|0.8834|0.8033|0.7914|0.8531|0.7797|0.8195|0.8834|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+6446T>C|||||||rs3131962||-1||SNV||||||5||||||||||||||0.7480|0.4501|0.8242|0.8829|0.8698|0.8323||||||||||0.739|0.4728|0.7597|0.8031|0.8469|0.8834|0.8033|0.7914|0.8531|0.7797|0.8195|0.8834|gnomADg_EAS|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918348|enhancer||||||||||rs3131962||||SNV||||||||||||||||||||0.7480|0.4501|0.8242|0.8829|0.8698|0.8323||||||||||0.739|0.4728|0.7597|0.8031|0.8469|0.8834|0.8033|0.7914|0.8531|0.7797|0.8195|0.8834|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.8:5:0,1:0,2:0,3:0,0,2,3 -chr1 822260 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=47;POPAF=7.3;TLOD=3.48;SRC=custom;GRP=custom;CSQ=A|downstream_gene_variant|MODIFIER|FAM87B|ENSG00000177757|Transcript|ENST00000326734|lncRNA||||||||||rs3115853|2423|1||SNV|HGNC|HGNC:32236|YES|||2||||||||||||||0.6402|0.2179|0.745|0.7321|0.8708|0.8047||||||||||0.7155|0.3539|0.7787|0.7455|0.8459|0.7417|0.817|0.7973|0.8578|0.7497|0.8097|0.8708|EUR|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000290784|Transcript|ENST00000447500|lncRNA||||||||||rs3115853|4548|-1||SNV|||YES|||5||||||||||||||0.6402|0.2179|0.745|0.7321|0.8708|0.8047||||||||||0.7155|0.3539|0.7787|0.7455|0.8459|0.7417|0.817|0.7973|0.8578|0.7497|0.8097|0.8708|EUR|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC00115|ENSG00000225880|Transcript|ENST00000473798|lncRNA||||||||||rs3115853|1968|-1||SNV|HGNC|HGNC:26211|YES|||||||||||||||||0.6402|0.2179|0.745|0.7321|0.8708|0.8047||||||||||0.7155|0.3539|0.7787|0.7455|0.8459|0.7417|0.817|0.7973|0.8578|0.7497|0.8097|0.8708|EUR|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA||||||||||rs3115853|4572|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.6402|0.2179|0.745|0.7321|0.8708|0.8047||||||||||0.7155|0.3539|0.7787|0.7455|0.8459|0.7417|0.817|0.7973|0.8578|0.7497|0.8097|0.8708|EUR|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||||||||||rs3115853|2878|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.6402|0.2179|0.745|0.7321|0.8708|0.8047||||||||||0.7155|0.3539|0.7787|0.7455|0.8459|0.7417|0.817|0.7973|0.8578|0.7497|0.8097|0.8708|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+5410C>T|||||||rs3115853||-1||SNV|||YES|||5||||||||||||||0.6402|0.2179|0.745|0.7321|0.8708|0.8047||||||||||0.7155|0.3539|0.7787|0.7455|0.8459|0.7417|0.817|0.7973|0.8578|0.7497|0.8097|0.8708|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+5410C>T|||||||rs3115853||-1||SNV||||||5||||||||||||||0.6402|0.2179|0.745|0.7321|0.8708|0.8047||||||||||0.7155|0.3539|0.7787|0.7455|0.8459|0.7417|0.817|0.7973|0.8578|0.7497|0.8097|0.8708|EUR|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||||||||||rs3115853|4593|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6402|0.2179|0.745|0.7321|0.8708|0.8047||||||||||0.7155|0.3539|0.7787|0.7455|0.8459|0.7417|0.817|0.7973|0.8578|0.7497|0.8097|0.8708|EUR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 822354 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,28;MFRL=0,0;MMQ=60,60;MPOS=101;POPAF=7.3;TLOD=6.25;SRC=custom;GRP=custom;CSQ=T|downstream_gene_variant|MODIFIER|FAM87B|ENSG00000177757|Transcript|ENST00000326734|lncRNA||||||||||rs4951929|2517|1||SNV|HGNC|HGNC:32236|YES|||2||||||||||||||0.7482|0.4463|0.8213|0.8839|0.8728|0.8364||||||||||0.7434|0.4757|0.7673|0.8061|0.8511|0.8893|0.8071|0.8089|0.8566|0.7789|0.826|0.8893|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000290784|Transcript|ENST00000447500|lncRNA||||||||||rs4951929|4642|-1||SNV|||YES|||5||||||||||||||0.7482|0.4463|0.8213|0.8839|0.8728|0.8364||||||||||0.7434|0.4757|0.7673|0.8061|0.8511|0.8893|0.8071|0.8089|0.8566|0.7789|0.826|0.8893|gnomADg_EAS|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC00115|ENSG00000225880|Transcript|ENST00000473798|lncRNA||||||||||rs4951929|1874|-1||SNV|HGNC|HGNC:26211|YES|||||||||||||||||0.7482|0.4463|0.8213|0.8839|0.8728|0.8364||||||||||0.7434|0.4757|0.7673|0.8061|0.8511|0.8893|0.8071|0.8089|0.8566|0.7789|0.826|0.8893|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA||||||||||rs4951929|4478|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7482|0.4463|0.8213|0.8839|0.8728|0.8364||||||||||0.7434|0.4757|0.7673|0.8061|0.8511|0.8893|0.8071|0.8089|0.8566|0.7789|0.826|0.8893|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||||||||||rs4951929|2784|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7482|0.4463|0.8213|0.8839|0.8728|0.8364||||||||||0.7434|0.4757|0.7673|0.8061|0.8511|0.8893|0.8071|0.8089|0.8566|0.7789|0.826|0.8893|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+5316G>A|||||||rs4951929||-1||SNV|||YES|||5||||||||||||||0.7482|0.4463|0.8213|0.8839|0.8728|0.8364||||||||||0.7434|0.4757|0.7673|0.8061|0.8511|0.8893|0.8071|0.8089|0.8566|0.7789|0.826|0.8893|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+5316G>A|||||||rs4951929||-1||SNV||||||5||||||||||||||0.7482|0.4463|0.8213|0.8839|0.8728|0.8364||||||||||0.7434|0.4757|0.7673|0.8061|0.8511|0.8893|0.8071|0.8089|0.8566|0.7789|0.826|0.8893|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||||||||||rs4951929|4499|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7482|0.4463|0.8213|0.8839|0.8728|0.8364||||||||||0.7434|0.4757|0.7673|0.8061|0.8511|0.8893|0.8071|0.8089|0.8566|0.7789|0.826|0.8893|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 822469 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=125;POPAF=7.3;TLOD=7.05;SRC=custom;GRP=custom;CSQ=T|downstream_gene_variant|MODIFIER|FAM87B|ENSG00000177757|Transcript|ENST00000326734|lncRNA||||||||||rs1396426176|2632|1||SNV|HGNC|HGNC:32236|YES|||2|||||||||||||||||||||||||||||1.381e-05|5.018e-05|0|0|0|0|0|0|0|0|0|5.018e-05|gnomADg_AFR|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000290784|Transcript|ENST00000447500|lncRNA||||||||||rs1396426176|4757|-1||SNV|||YES|||5|||||||||||||||||||||||||||||1.381e-05|5.018e-05|0|0|0|0|0|0|0|0|0|5.018e-05|gnomADg_AFR|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC00115|ENSG00000225880|Transcript|ENST00000473798|lncRNA||||||||||rs1396426176|1759|-1||SNV|HGNC|HGNC:26211|YES||||||||||||||||||||||||||||||||1.381e-05|5.018e-05|0|0|0|0|0|0|0|0|0|5.018e-05|gnomADg_AFR|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA||||||||||rs1396426176|4363|1||SNV|HGNC|HGNC:49377||||5|||||||||||||||||||||||||||||1.381e-05|5.018e-05|0|0|0|0|0|0|0|0|0|5.018e-05|gnomADg_AFR|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||||||||||rs1396426176|2669|1||SNV|HGNC|HGNC:49377||||5|||||||||||||||||||||||||||||1.381e-05|5.018e-05|0|0|0|0|0|0|0|0|0|5.018e-05|gnomADg_AFR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+5201G>A|||||||rs1396426176||-1||SNV|||YES|||5|||||||||||||||||||||||||||||1.381e-05|5.018e-05|0|0|0|0|0|0|0|0|0|5.018e-05|gnomADg_AFR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+5201G>A|||||||rs1396426176||-1||SNV||||||5|||||||||||||||||||||||||||||1.381e-05|5.018e-05|0|0|0|0|0|0|0|0|0|5.018e-05|gnomADg_AFR|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||||||||||rs1396426176|4384|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||1.381e-05|5.018e-05|0|0|0|0|0|0|0|0|0|5.018e-05|gnomADg_AFR|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164789|enhancer||||||||||rs1396426176||||SNV|||||||||||||||||||||||||||||||||||1.381e-05|5.018e-05|0|0|0|0|0|0|0|0|0|5.018e-05|gnomADg_AFR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 822556 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=38;POPAF=7.3;TLOD=7.25;SRC=custom;GRP=custom;CSQ=A|downstream_gene_variant|MODIFIER|FAM87B|ENSG00000177757|Transcript|ENST00000326734|lncRNA||||||||||rs4951862|2719|1||SNV|HGNC|HGNC:32236|YES|||2||||||||||||||0.7488|0.4486|0.8242|0.8839|0.8718|0.8354||||||||||0.7233|0.4588|0.7388|0.7881|0.8262|0.8745|0.7892|0.754|0.8391|0.7568|0.8058|0.8839|EAS|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000290784|Transcript|ENST00000447500|lncRNA||||||||||rs4951862|4844|-1||SNV|||YES|||5||||||||||||||0.7488|0.4486|0.8242|0.8839|0.8718|0.8354||||||||||0.7233|0.4588|0.7388|0.7881|0.8262|0.8745|0.7892|0.754|0.8391|0.7568|0.8058|0.8839|EAS|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC00115|ENSG00000225880|Transcript|ENST00000473798|lncRNA||||||||||rs4951862|1672|-1||SNV|HGNC|HGNC:26211|YES|||||||||||||||||0.7488|0.4486|0.8242|0.8839|0.8718|0.8354||||||||||0.7233|0.4588|0.7388|0.7881|0.8262|0.8745|0.7892|0.754|0.8391|0.7568|0.8058|0.8839|EAS|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA||||||||||rs4951862|4276|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7488|0.4486|0.8242|0.8839|0.8718|0.8354||||||||||0.7233|0.4588|0.7388|0.7881|0.8262|0.8745|0.7892|0.754|0.8391|0.7568|0.8058|0.8839|EAS|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||||||||||rs4951862|2582|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7488|0.4486|0.8242|0.8839|0.8718|0.8354||||||||||0.7233|0.4588|0.7388|0.7881|0.8262|0.8745|0.7892|0.754|0.8391|0.7568|0.8058|0.8839|EAS|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+5114G>T|||||||rs4951862||-1||SNV|||YES|||5||||||||||||||0.7488|0.4486|0.8242|0.8839|0.8718|0.8354||||||||||0.7233|0.4588|0.7388|0.7881|0.8262|0.8745|0.7892|0.754|0.8391|0.7568|0.8058|0.8839|EAS|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+5114G>T|||||||rs4951862||-1||SNV||||||5||||||||||||||0.7488|0.4486|0.8242|0.8839|0.8718|0.8354||||||||||0.7233|0.4588|0.7388|0.7881|0.8262|0.8745|0.7892|0.754|0.8391|0.7568|0.8058|0.8839|EAS|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||||||||||rs4951862|4297|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7488|0.4486|0.8242|0.8839|0.8718|0.8354||||||||||0.7233|0.4588|0.7388|0.7881|0.8262|0.8745|0.7892|0.754|0.8391|0.7568|0.8058|0.8839|EAS|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164789|enhancer||||||||||rs4951862||||SNV||||||||||||||||||||0.7488|0.4486|0.8242|0.8839|0.8718|0.8354||||||||||0.7233|0.4588|0.7388|0.7881|0.8262|0.8745|0.7892|0.754|0.8391|0.7568|0.8058|0.8839|EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 822764 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=122;POPAF=7.3;TLOD=7.15;SRC=custom;GRP=custom;CSQ=G|downstream_gene_variant|MODIFIER|FAM87B|ENSG00000177757|Transcript|ENST00000326734|lncRNA||||||||||rs3131956|2927|1||SNV|HGNC|HGNC:32236|YES|||2||||||||||||||0.7402|0.4425|0.817|0.8839|0.8608|0.816||||||||||0.7597|0.5167|0.7793|0.809|0.854|0.8897|0.8123|0.7905|0.8551|0.7923|0.833|0.8897|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA||||||||||rs3131956|4903|1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.7402|0.4425|0.817|0.8839|0.8608|0.816||||||||||0.7597|0.5167|0.7793|0.809|0.854|0.8897|0.8123|0.7905|0.8551|0.7923|0.833|0.8897|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000441765|lncRNA||||||||||rs3131956|4903|1||SNV|HGNC|HGNC:49377||||2||||||||||||||0.7402|0.4425|0.817|0.8839|0.8608|0.816||||||||||0.7597|0.5167|0.7793|0.809|0.854|0.8897|0.8123|0.7905|0.8551|0.7923|0.833|0.8897|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA||||||||||rs3131956|4834|1||SNV|HGNC|HGNC:49377|YES|||1||||||||||||||0.7402|0.4425|0.817|0.8839|0.8608|0.816||||||||||0.7597|0.5167|0.7793|0.809|0.854|0.8897|0.8123|0.7905|0.8551|0.7923|0.833|0.8897|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA||||||||||rs3131956|4893|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7402|0.4425|0.817|0.8839|0.8608|0.816||||||||||0.7597|0.5167|0.7793|0.809|0.854|0.8897|0.8123|0.7905|0.8551|0.7923|0.833|0.8897|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA||||||||||rs3131956|4895|1||SNV|HGNC|HGNC:49377||||1||||||||||||||0.7402|0.4425|0.817|0.8839|0.8608|0.816||||||||||0.7597|0.5167|0.7793|0.809|0.854|0.8897|0.8123|0.7905|0.8551|0.7923|0.833|0.8897|gnomADg_EAS|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC00115|ENSG00000225880|Transcript|ENST00000473798|lncRNA||||||||||rs3131956|1464|-1||SNV|HGNC|HGNC:26211|YES|||||||||||||||||0.7402|0.4425|0.817|0.8839|0.8608|0.816||||||||||0.7597|0.5167|0.7793|0.809|0.854|0.8897|0.8123|0.7905|0.8551|0.7923|0.833|0.8897|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA||||||||||rs3131956|4890|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7402|0.4425|0.817|0.8839|0.8608|0.816||||||||||0.7597|0.5167|0.7793|0.809|0.854|0.8897|0.8123|0.7905|0.8551|0.7923|0.833|0.8897|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA||||||||||rs3131956|4903|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7402|0.4425|0.817|0.8839|0.8608|0.816||||||||||0.7597|0.5167|0.7793|0.809|0.854|0.8897|0.8123|0.7905|0.8551|0.7923|0.833|0.8897|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA||||||||||rs3131956|4903|1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.7402|0.4425|0.817|0.8839|0.8608|0.816||||||||||0.7597|0.5167|0.7793|0.809|0.854|0.8897|0.8123|0.7905|0.8551|0.7923|0.833|0.8897|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000610067|lncRNA||||||||||rs3131956|4844|1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.7402|0.4425|0.817|0.8839|0.8608|0.816||||||||||0.7597|0.5167|0.7793|0.809|0.854|0.8897|0.8123|0.7905|0.8551|0.7923|0.833|0.8897|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA||||||||||rs3131956|4888|1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.7402|0.4425|0.817|0.8839|0.8608|0.816||||||||||0.7597|0.5167|0.7793|0.809|0.854|0.8897|0.8123|0.7905|0.8551|0.7923|0.833|0.8897|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA||||||||||rs3131956|4068|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7402|0.4425|0.817|0.8839|0.8608|0.816||||||||||0.7597|0.5167|0.7793|0.809|0.854|0.8897|0.8123|0.7905|0.8551|0.7923|0.833|0.8897|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||||||||||rs3131956|2374|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7402|0.4425|0.817|0.8839|0.8608|0.816||||||||||0.7597|0.5167|0.7793|0.809|0.854|0.8897|0.8123|0.7905|0.8551|0.7923|0.833|0.8897|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+4906T>C|||||||rs3131956||-1||SNV|||YES|||5||||||||||||||0.7402|0.4425|0.817|0.8839|0.8608|0.816||||||||||0.7597|0.5167|0.7793|0.809|0.854|0.8897|0.8123|0.7905|0.8551|0.7923|0.833|0.8897|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+4906T>C|||||||rs3131956||-1||SNV||||||5||||||||||||||0.7402|0.4425|0.817|0.8839|0.8608|0.816||||||||||0.7597|0.5167|0.7793|0.809|0.854|0.8897|0.8123|0.7905|0.8551|0.7923|0.833|0.8897|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA||||||||||rs3131956|4909|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7402|0.4425|0.817|0.8839|0.8608|0.816||||||||||0.7597|0.5167|0.7793|0.809|0.854|0.8897|0.8123|0.7905|0.8551|0.7923|0.833|0.8897|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA||||||||||rs3131956|4871|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7402|0.4425|0.817|0.8839|0.8608|0.816||||||||||0.7597|0.5167|0.7793|0.809|0.854|0.8897|0.8123|0.7905|0.8551|0.7923|0.833|0.8897|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA||||||||||rs3131956|4844|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7402|0.4425|0.817|0.8839|0.8608|0.816||||||||||0.7597|0.5167|0.7793|0.809|0.854|0.8897|0.8123|0.7905|0.8551|0.7923|0.833|0.8897|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA||||||||||rs3131956|4895|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7402|0.4425|0.817|0.8839|0.8608|0.816||||||||||0.7597|0.5167|0.7793|0.809|0.854|0.8897|0.8123|0.7905|0.8551|0.7923|0.833|0.8897|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA||||||||||rs3131956|4871|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7402|0.4425|0.817|0.8839|0.8608|0.816||||||||||0.7597|0.5167|0.7793|0.809|0.854|0.8897|0.8123|0.7905|0.8551|0.7923|0.833|0.8897|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000667414|lncRNA||||||||||rs3131956|4871|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7402|0.4425|0.817|0.8839|0.8608|0.816||||||||||0.7597|0.5167|0.7793|0.809|0.854|0.8897|0.8123|0.7905|0.8551|0.7923|0.833|0.8897|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000669922|lncRNA||||||||||rs3131956|4839|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7402|0.4425|0.817|0.8839|0.8608|0.816||||||||||0.7597|0.5167|0.7793|0.809|0.854|0.8897|0.8123|0.7905|0.8551|0.7923|0.833|0.8897|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA||||||||||rs3131956|4840|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7402|0.4425|0.817|0.8839|0.8608|0.816||||||||||0.7597|0.5167|0.7793|0.809|0.854|0.8897|0.8123|0.7905|0.8551|0.7923|0.833|0.8897|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||||||||||rs3131956|4089|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7402|0.4425|0.817|0.8839|0.8608|0.816||||||||||0.7597|0.5167|0.7793|0.809|0.854|0.8897|0.8123|0.7905|0.8551|0.7923|0.833|0.8897|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA||||||||||rs3131956|4897|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7402|0.4425|0.817|0.8839|0.8608|0.816||||||||||0.7597|0.5167|0.7793|0.809|0.854|0.8897|0.8123|0.7905|0.8551|0.7923|0.833|0.8897|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA||||||||||rs3131956|4879|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7402|0.4425|0.817|0.8839|0.8608|0.816||||||||||0.7597|0.5167|0.7793|0.809|0.854|0.8897|0.8123|0.7905|0.8551|0.7923|0.833|0.8897|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685879|lncRNA||||||||||rs3131956|4888|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7402|0.4425|0.817|0.8839|0.8608|0.816||||||||||0.7597|0.5167|0.7793|0.809|0.854|0.8897|0.8123|0.7905|0.8551|0.7923|0.833|0.8897|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA||||||||||rs3131956|4895|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7402|0.4425|0.817|0.8839|0.8608|0.816||||||||||0.7597|0.5167|0.7793|0.809|0.854|0.8897|0.8123|0.7905|0.8551|0.7923|0.833|0.8897|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA||||||||||rs3131956|4873|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7402|0.4425|0.817|0.8839|0.8608|0.816||||||||||0.7597|0.5167|0.7793|0.809|0.854|0.8897|0.8123|0.7905|0.8551|0.7923|0.833|0.8897|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA||||||||||rs3131956|4844|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7402|0.4425|0.817|0.8839|0.8608|0.816||||||||||0.7597|0.5167|0.7793|0.809|0.854|0.8897|0.8123|0.7905|0.8551|0.7923|0.833|0.8897|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA||||||||||rs3131956|4928|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7402|0.4425|0.817|0.8839|0.8608|0.816||||||||||0.7597|0.5167|0.7793|0.809|0.854|0.8897|0.8123|0.7905|0.8551|0.7923|0.833|0.8897|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA||||||||||rs3131956|4929|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7402|0.4425|0.817|0.8839|0.8608|0.816||||||||||0.7597|0.5167|0.7793|0.809|0.854|0.8897|0.8123|0.7905|0.8551|0.7923|0.833|0.8897|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA||||||||||rs3131956|4903|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7402|0.4425|0.817|0.8839|0.8608|0.816||||||||||0.7597|0.5167|0.7793|0.809|0.854|0.8897|0.8123|0.7905|0.8551|0.7923|0.833|0.8897|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA||||||||||rs3131956|4909|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7402|0.4425|0.817|0.8839|0.8608|0.816||||||||||0.7597|0.5167|0.7793|0.809|0.854|0.8897|0.8123|0.7905|0.8551|0.7923|0.833|0.8897|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA||||||||||rs3131956|4957|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7402|0.4425|0.817|0.8839|0.8608|0.816||||||||||0.7597|0.5167|0.7793|0.809|0.854|0.8897|0.8123|0.7905|0.8551|0.7923|0.833|0.8897|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA||||||||||rs3131956|4938|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7402|0.4425|0.817|0.8839|0.8608|0.816||||||||||0.7597|0.5167|0.7793|0.809|0.854|0.8897|0.8123|0.7905|0.8551|0.7923|0.833|0.8897|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 822907 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=2;GERMQ=47;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=128;POPAF=7.3;TLOD=7.45;SRC=custom;GRP=custom;CSQ=C|downstream_gene_variant|MODIFIER|FAM87B|ENSG00000177757|Transcript|ENST00000326734|lncRNA||||||||||rs1468518538|3070|1||SNV|HGNC|HGNC:32236|YES|||2|||||||||||||||||||||||||||||2.634e-05|2.42e-05|0|0|0|0|0|0|4.416e-05|0|0|4.416e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA||||||||||rs1468518538|4760|1||SNV|HGNC|HGNC:49377||||3|||||||||||||||||||||||||||||2.634e-05|2.42e-05|0|0|0|0|0|0|4.416e-05|0|0|4.416e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000441765|lncRNA||||||||||rs1468518538|4760|1||SNV|HGNC|HGNC:49377||||2|||||||||||||||||||||||||||||2.634e-05|2.42e-05|0|0|0|0|0|0|4.416e-05|0|0|4.416e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA||||||||||rs1468518538|4691|1||SNV|HGNC|HGNC:49377|YES|||1|||||||||||||||||||||||||||||2.634e-05|2.42e-05|0|0|0|0|0|0|4.416e-05|0|0|4.416e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA||||||||||rs1468518538|4750|1||SNV|HGNC|HGNC:49377||||5|||||||||||||||||||||||||||||2.634e-05|2.42e-05|0|0|0|0|0|0|4.416e-05|0|0|4.416e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA||||||||||rs1468518538|4752|1||SNV|HGNC|HGNC:49377||||1|||||||||||||||||||||||||||||2.634e-05|2.42e-05|0|0|0|0|0|0|4.416e-05|0|0|4.416e-05|gnomADg_NFE|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC00115|ENSG00000225880|Transcript|ENST00000473798|lncRNA||||||||||rs1468518538|1321|-1||SNV|HGNC|HGNC:26211|YES||||||||||||||||||||||||||||||||2.634e-05|2.42e-05|0|0|0|0|0|0|4.416e-05|0|0|4.416e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA||||||||||rs1468518538|4747|1||SNV|HGNC|HGNC:49377||||5|||||||||||||||||||||||||||||2.634e-05|2.42e-05|0|0|0|0|0|0|4.416e-05|0|0|4.416e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA||||||||||rs1468518538|4760|1||SNV|HGNC|HGNC:49377||||5|||||||||||||||||||||||||||||2.634e-05|2.42e-05|0|0|0|0|0|0|4.416e-05|0|0|4.416e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA||||||||||rs1468518538|4760|1||SNV|HGNC|HGNC:49377||||3|||||||||||||||||||||||||||||2.634e-05|2.42e-05|0|0|0|0|0|0|4.416e-05|0|0|4.416e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000610067|lncRNA||||||||||rs1468518538|4701|1||SNV|HGNC|HGNC:49377||||4|||||||||||||||||||||||||||||2.634e-05|2.42e-05|0|0|0|0|0|0|4.416e-05|0|0|4.416e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA||||||||||rs1468518538|4914|1||SNV|HGNC|HGNC:49377||||5|||||||||||||||||||||||||||||2.634e-05|2.42e-05|0|0|0|0|0|0|4.416e-05|0|0|4.416e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA||||||||||rs1468518538|4745|1||SNV|HGNC|HGNC:49377||||4|||||||||||||||||||||||||||||2.634e-05|2.42e-05|0|0|0|0|0|0|4.416e-05|0|0|4.416e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA||||||||||rs1468518538|3925|1||SNV|HGNC|HGNC:49377||||5|||||||||||||||||||||||||||||2.634e-05|2.42e-05|0|0|0|0|0|0|4.416e-05|0|0|4.416e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||||||||||rs1468518538|2231|1||SNV|HGNC|HGNC:49377||||5|||||||||||||||||||||||||||||2.634e-05|2.42e-05|0|0|0|0|0|0|4.416e-05|0|0|4.416e-05|gnomADg_NFE|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+4763A>G|||||||rs1468518538||-1||SNV|||YES|||5|||||||||||||||||||||||||||||2.634e-05|2.42e-05|0|0|0|0|0|0|4.416e-05|0|0|4.416e-05|gnomADg_NFE|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+4763A>G|||||||rs1468518538||-1||SNV||||||5|||||||||||||||||||||||||||||2.634e-05|2.42e-05|0|0|0|0|0|0|4.416e-05|0|0|4.416e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA||||||||||rs1468518538|4899|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||2.634e-05|2.42e-05|0|0|0|0|0|0|4.416e-05|0|0|4.416e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA||||||||||rs1468518538|4766|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||2.634e-05|2.42e-05|0|0|0|0|0|0|4.416e-05|0|0|4.416e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA||||||||||rs1468518538|4728|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||2.634e-05|2.42e-05|0|0|0|0|0|0|4.416e-05|0|0|4.416e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA||||||||||rs1468518538|4701|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||2.634e-05|2.42e-05|0|0|0|0|0|0|4.416e-05|0|0|4.416e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000660797|lncRNA||||||||||rs1468518538|4908|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||2.634e-05|2.42e-05|0|0|0|0|0|0|4.416e-05|0|0|4.416e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA||||||||||rs1468518538|4752|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||2.634e-05|2.42e-05|0|0|0|0|0|0|4.416e-05|0|0|4.416e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA||||||||||rs1468518538|4728|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||2.634e-05|2.42e-05|0|0|0|0|0|0|4.416e-05|0|0|4.416e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000667414|lncRNA||||||||||rs1468518538|4728|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||2.634e-05|2.42e-05|0|0|0|0|0|0|4.416e-05|0|0|4.416e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000668541|lncRNA||||||||||rs1468518538|4864|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||2.634e-05|2.42e-05|0|0|0|0|0|0|4.416e-05|0|0|4.416e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000669922|lncRNA||||||||||rs1468518538|4696|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||2.634e-05|2.42e-05|0|0|0|0|0|0|4.416e-05|0|0|4.416e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA||||||||||rs1468518538|4697|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||2.634e-05|2.42e-05|0|0|0|0|0|0|4.416e-05|0|0|4.416e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||||||||||rs1468518538|3946|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||2.634e-05|2.42e-05|0|0|0|0|0|0|4.416e-05|0|0|4.416e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA||||||||||rs1468518538|4754|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||2.634e-05|2.42e-05|0|0|0|0|0|0|4.416e-05|0|0|4.416e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA||||||||||rs1468518538|4736|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||2.634e-05|2.42e-05|0|0|0|0|0|0|4.416e-05|0|0|4.416e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685879|lncRNA||||||||||rs1468518538|4745|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||2.634e-05|2.42e-05|0|0|0|0|0|0|4.416e-05|0|0|4.416e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA||||||||||rs1468518538|4752|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||2.634e-05|2.42e-05|0|0|0|0|0|0|4.416e-05|0|0|4.416e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA||||||||||rs1468518538|4730|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||2.634e-05|2.42e-05|0|0|0|0|0|0|4.416e-05|0|0|4.416e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA||||||||||rs1468518538|4701|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||2.634e-05|2.42e-05|0|0|0|0|0|0|4.416e-05|0|0|4.416e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA||||||||||rs1468518538|4867|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||2.634e-05|2.42e-05|0|0|0|0|0|0|4.416e-05|0|0|4.416e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA||||||||||rs1468518538|4785|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||2.634e-05|2.42e-05|0|0|0|0|0|0|4.416e-05|0|0|4.416e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA||||||||||rs1468518538|4786|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||2.634e-05|2.42e-05|0|0|0|0|0|0|4.416e-05|0|0|4.416e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA||||||||||rs1468518538|4760|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||2.634e-05|2.42e-05|0|0|0|0|0|0|4.416e-05|0|0|4.416e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA||||||||||rs1468518538|4766|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||2.634e-05|2.42e-05|0|0|0|0|0|0|4.416e-05|0|0|4.416e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA||||||||||rs1468518538|4814|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||2.634e-05|2.42e-05|0|0|0|0|0|0|4.416e-05|0|0|4.416e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA||||||||||rs1468518538|4795|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||2.634e-05|2.42e-05|0|0|0|0|0|0|4.416e-05|0|0|4.416e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA||||||||||rs1468518538|4862|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||2.634e-05|2.42e-05|0|0|0|0|0|0|4.416e-05|0|0|4.416e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA||||||||||rs1468518538|4864|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||2.634e-05|2.42e-05|0|0|0|0|0|0|4.416e-05|0|0|4.416e-05|gnomADg_NFE||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 822944 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=107;POPAF=7.3;TLOD=7.45;SRC=custom;GRP=custom;CSQ=C|downstream_gene_variant|MODIFIER|FAM87B|ENSG00000177757|Transcript|ENST00000326734|lncRNA||||||||||rs3131955|3107|1||SNV|HGNC|HGNC:32236|YES|||2||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA||||||||||rs3131955|4723|1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000441765|lncRNA||||||||||rs3131955|4723|1||SNV|HGNC|HGNC:49377||||2||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA||||||||||rs3131955|4654|1||SNV|HGNC|HGNC:49377|YES|||1||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA||||||||||rs3131955|4713|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA||||||||||rs3131955|4715|1||SNV|HGNC|HGNC:49377||||1||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|downstream_gene_variant|MODIFIER|LINC00115|ENSG00000225880|Transcript|ENST00000473798|lncRNA||||||||||rs3131955|1284|-1||SNV|HGNC|HGNC:26211|YES|||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA||||||||||rs3131955|4710|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA||||||||||rs3131955|4723|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA||||||||||rs3131955|4723|1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000610067|lncRNA||||||||||rs3131955|4664|1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA||||||||||rs3131955|4877|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA||||||||||rs3131955|4708|1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA||||||||||rs3131955|3888|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||||||||||rs3131955|2194|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+4726A>G|||||||rs3131955||-1||SNV|||YES|||5||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+4726A>G|||||||rs3131955||-1||SNV||||||5||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA||||||||||rs3131955|4862|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA||||||||||rs3131955|4729|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA||||||||||rs3131955|4691|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA||||||||||rs3131955|4664|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000660797|lncRNA||||||||||rs3131955|4871|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA||||||||||rs3131955|4715|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA||||||||||rs3131955|4691|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000667414|lncRNA||||||||||rs3131955|4691|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000668541|lncRNA||||||||||rs3131955|4827|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000669922|lncRNA||||||||||rs3131955|4659|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA||||||||||rs3131955|4660|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||||||||||rs3131955|3909|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA||||||||||rs3131955|4717|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA||||||||||rs3131955|4699|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685879|lncRNA||||||||||rs3131955|4708|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA||||||||||rs3131955|4715|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA||||||||||rs3131955|4693|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA||||||||||rs3131955|4664|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA||||||||||rs3131955|4830|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA||||||||||rs3131955|4748|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA||||||||||rs3131955|4749|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA||||||||||rs3131955|4723|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA||||||||||rs3131955|4729|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA||||||||||rs3131955|4777|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA||||||||||rs3131955|4758|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA||||||||||rs3131955|4825|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA||||||||||rs3131955|4827|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 822944 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=2;GERMQ=47;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=91;POPAF=7.3;TLOD=7.45;SRC=custom;GRP=custom;CSQ=C|downstream_gene_variant|MODIFIER|FAM87B|ENSG00000177757|Transcript|ENST00000326734|lncRNA||||||||||rs3131955|3107|1||SNV|HGNC|HGNC:32236|YES|||2||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA||||||||||rs3131955|4723|1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000441765|lncRNA||||||||||rs3131955|4723|1||SNV|HGNC|HGNC:49377||||2||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA||||||||||rs3131955|4654|1||SNV|HGNC|HGNC:49377|YES|||1||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA||||||||||rs3131955|4713|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA||||||||||rs3131955|4715|1||SNV|HGNC|HGNC:49377||||1||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|downstream_gene_variant|MODIFIER|LINC00115|ENSG00000225880|Transcript|ENST00000473798|lncRNA||||||||||rs3131955|1284|-1||SNV|HGNC|HGNC:26211|YES|||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA||||||||||rs3131955|4710|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA||||||||||rs3131955|4723|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA||||||||||rs3131955|4723|1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000610067|lncRNA||||||||||rs3131955|4664|1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA||||||||||rs3131955|4877|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA||||||||||rs3131955|4708|1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA||||||||||rs3131955|3888|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||||||||||rs3131955|2194|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+4726A>G|||||||rs3131955||-1||SNV|||YES|||5||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+4726A>G|||||||rs3131955||-1||SNV||||||5||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA||||||||||rs3131955|4862|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA||||||||||rs3131955|4729|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA||||||||||rs3131955|4691|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA||||||||||rs3131955|4664|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000660797|lncRNA||||||||||rs3131955|4871|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA||||||||||rs3131955|4715|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA||||||||||rs3131955|4691|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000667414|lncRNA||||||||||rs3131955|4691|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000668541|lncRNA||||||||||rs3131955|4827|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000669922|lncRNA||||||||||rs3131955|4659|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA||||||||||rs3131955|4660|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||||||||||rs3131955|3909|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA||||||||||rs3131955|4717|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA||||||||||rs3131955|4699|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685879|lncRNA||||||||||rs3131955|4708|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA||||||||||rs3131955|4715|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA||||||||||rs3131955|4693|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA||||||||||rs3131955|4664|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA||||||||||rs3131955|4830|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA||||||||||rs3131955|4748|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA||||||||||rs3131955|4749|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA||||||||||rs3131955|4723|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA||||||||||rs3131955|4729|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA||||||||||rs3131955|4777|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA||||||||||rs3131955|4758|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA||||||||||rs3131955|4825|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA||||||||||rs3131955|4827|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 823246 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=102;POPAF=7.3;TLOD=7.02;SRC=custom;GRP=custom;CSQ=T|downstream_gene_variant|MODIFIER|FAM87B|ENSG00000177757|Transcript|ENST00000326734|lncRNA||||||||||rs3131954|3409|1||SNV|HGNC|HGNC:32236|YES|||2||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA||||||||||rs3131954|4421|1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000441765|lncRNA||||||||||rs3131954|4421|1||SNV|HGNC|HGNC:49377||||2||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA||||||||||rs3131954|4352|1||SNV|HGNC|HGNC:49377|YES|||1||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA||||||||||rs3131954|4411|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA||||||||||rs3131954|4413|1||SNV|HGNC|HGNC:49377||||1||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC00115|ENSG00000225880|Transcript|ENST00000473798|lncRNA||||||||||rs3131954|982|-1||SNV|HGNC|HGNC:26211|YES|||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA||||||||||rs3131954|4408|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA||||||||||rs3131954|4421|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA||||||||||rs3131954|4421|1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000610067|lncRNA||||||||||rs3131954|4362|1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA||||||||||rs3131954|4575|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA||||||||||rs3131954|4406|1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA||||||||||rs3131954|3586|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||||||||||rs3131954|1892|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+4424G>A|||||||rs3131954||-1||SNV|||YES|||5||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+4424G>A|||||||rs3131954||-1||SNV||||||5||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA||||||||||rs3131954|4560|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA||||||||||rs3131954|4427|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA||||||||||rs3131954|4389|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA||||||||||rs3131954|4362|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000660797|lncRNA||||||||||rs3131954|4569|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA||||||||||rs3131954|4413|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA||||||||||rs3131954|4389|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000667414|lncRNA||||||||||rs3131954|4389|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000668541|lncRNA||||||||||rs3131954|4525|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000669922|lncRNA||||||||||rs3131954|4357|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA||||||||||rs3131954|4358|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||||||||||rs3131954|3607|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA||||||||||rs3131954|4415|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA||||||||||rs3131954|4397|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685879|lncRNA||||||||||rs3131954|4406|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA||||||||||rs3131954|4413|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA||||||||||rs3131954|4391|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA||||||||||rs3131954|4362|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA||||||||||rs3131954|4528|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA||||||||||rs3131954|4446|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA||||||||||rs3131954|4447|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA||||||||||rs3131954|4421|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA||||||||||rs3131954|4427|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA||||||||||rs3131954|4475|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA||||||||||rs3131954|4456|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA||||||||||rs3131954|4523|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA||||||||||rs3131954|4525|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918349|enhancer||||||||||rs3131954||||SNV||||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 823246 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C1;DP=3;ECNT=1;GERMQ=50;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=44;POPAF=7.3;TLOD=10.75;SRC=custom;GRP=custom;CSQ=T|downstream_gene_variant|MODIFIER|FAM87B|ENSG00000177757|Transcript|ENST00000326734|lncRNA||||||||||rs3131954|3409|1||SNV|HGNC|HGNC:32236|YES|||2||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA||||||||||rs3131954|4421|1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000441765|lncRNA||||||||||rs3131954|4421|1||SNV|HGNC|HGNC:49377||||2||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA||||||||||rs3131954|4352|1||SNV|HGNC|HGNC:49377|YES|||1||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA||||||||||rs3131954|4411|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA||||||||||rs3131954|4413|1||SNV|HGNC|HGNC:49377||||1||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC00115|ENSG00000225880|Transcript|ENST00000473798|lncRNA||||||||||rs3131954|982|-1||SNV|HGNC|HGNC:26211|YES|||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA||||||||||rs3131954|4408|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA||||||||||rs3131954|4421|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA||||||||||rs3131954|4421|1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000610067|lncRNA||||||||||rs3131954|4362|1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA||||||||||rs3131954|4575|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA||||||||||rs3131954|4406|1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA||||||||||rs3131954|3586|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||||||||||rs3131954|1892|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+4424G>A|||||||rs3131954||-1||SNV|||YES|||5||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+4424G>A|||||||rs3131954||-1||SNV||||||5||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA||||||||||rs3131954|4560|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA||||||||||rs3131954|4427|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA||||||||||rs3131954|4389|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA||||||||||rs3131954|4362|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000660797|lncRNA||||||||||rs3131954|4569|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA||||||||||rs3131954|4413|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA||||||||||rs3131954|4389|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000667414|lncRNA||||||||||rs3131954|4389|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000668541|lncRNA||||||||||rs3131954|4525|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000669922|lncRNA||||||||||rs3131954|4357|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA||||||||||rs3131954|4358|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||||||||||rs3131954|3607|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA||||||||||rs3131954|4415|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA||||||||||rs3131954|4397|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685879|lncRNA||||||||||rs3131954|4406|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA||||||||||rs3131954|4413|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA||||||||||rs3131954|4391|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA||||||||||rs3131954|4362|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA||||||||||rs3131954|4528|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA||||||||||rs3131954|4446|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA||||||||||rs3131954|4447|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA||||||||||rs3131954|4421|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA||||||||||rs3131954|4427|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA||||||||||rs3131954|4475|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA||||||||||rs3131954|4456|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA||||||||||rs3131954|4523|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA||||||||||rs3131954|4525|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918349|enhancer||||||||||rs3131954||||SNV||||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,0:0,2:0,2:0,0,2,1 -chr1 825532 . C T . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,33;MFRL=0,0;MMQ=60,21;MPOS=60;POPAF=7.3;TLOD=4.85;SRC=custom;GRP=custom;CSQ=T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA||||||||||rs1048488|2135|1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.7340|0.4448|0.8055|0.8839|0.84|0.8108||||||||||0.7239|0.4774|0.7374|0.7897|0.7839|0.8882|0.7964|0.758|0.826|0.7538|0.7927|0.8882|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000441765|lncRNA||||||||||rs1048488|2135|1||SNV|HGNC|HGNC:49377||||2||||||||||||||0.7340|0.4448|0.8055|0.8839|0.84|0.8108||||||||||0.7239|0.4774|0.7374|0.7897|0.7839|0.8882|0.7964|0.758|0.826|0.7538|0.7927|0.8882|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA||||||||||rs1048488|2066|1||SNV|HGNC|HGNC:49377|YES|||1||||||||||||||0.7340|0.4448|0.8055|0.8839|0.84|0.8108||||||||||0.7239|0.4774|0.7374|0.7897|0.7839|0.8882|0.7964|0.758|0.826|0.7538|0.7927|0.8882|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA||||||||||rs1048488|2125|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7340|0.4448|0.8055|0.8839|0.84|0.8108||||||||||0.7239|0.4774|0.7374|0.7897|0.7839|0.8882|0.7964|0.758|0.826|0.7538|0.7927|0.8882|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA||||||||||rs1048488|2127|1||SNV|HGNC|HGNC:49377||||1||||||||||||||0.7340|0.4448|0.8055|0.8839|0.84|0.8108||||||||||0.7239|0.4774|0.7374|0.7897|0.7839|0.8882|0.7964|0.758|0.826|0.7538|0.7927|0.8882|gnomADg_EAS|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC00115|ENSG00000225880|Transcript|ENST00000473798|lncRNA|1/1||ENST00000473798.2:n.2008G>A||2008|||||rs1048488||-1||SNV|HGNC|HGNC:26211|YES|||||||||||||||||0.7340|0.4448|0.8055|0.8839|0.84|0.8108||||||||||0.7239|0.4774|0.7374|0.7897|0.7839|0.8882|0.7964|0.758|0.826|0.7538|0.7927|0.8882|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA||||||||||rs1048488|2122|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7340|0.4448|0.8055|0.8839|0.84|0.8108||||||||||0.7239|0.4774|0.7374|0.7897|0.7839|0.8882|0.7964|0.758|0.826|0.7538|0.7927|0.8882|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA||||||||||rs1048488|2135|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7340|0.4448|0.8055|0.8839|0.84|0.8108||||||||||0.7239|0.4774|0.7374|0.7897|0.7839|0.8882|0.7964|0.758|0.826|0.7538|0.7927|0.8882|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA||||||||||rs1048488|2135|1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.7340|0.4448|0.8055|0.8839|0.84|0.8108||||||||||0.7239|0.4774|0.7374|0.7897|0.7839|0.8882|0.7964|0.758|0.826|0.7538|0.7927|0.8882|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000610067|lncRNA||||||||||rs1048488|2076|1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.7340|0.4448|0.8055|0.8839|0.84|0.8108||||||||||0.7239|0.4774|0.7374|0.7897|0.7839|0.8882|0.7964|0.758|0.826|0.7538|0.7927|0.8882|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA||||||||||rs1048488|2289|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7340|0.4448|0.8055|0.8839|0.84|0.8108||||||||||0.7239|0.4774|0.7374|0.7897|0.7839|0.8882|0.7964|0.758|0.826|0.7538|0.7927|0.8882|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA||||||||||rs1048488|2120|1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.7340|0.4448|0.8055|0.8839|0.84|0.8108||||||||||0.7239|0.4774|0.7374|0.7897|0.7839|0.8882|0.7964|0.758|0.826|0.7538|0.7927|0.8882|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA||||||||||rs1048488|1300|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7340|0.4448|0.8055|0.8839|0.84|0.8108||||||||||0.7239|0.4774|0.7374|0.7897|0.7839|0.8882|0.7964|0.758|0.826|0.7538|0.7927|0.8882|gnomADg_EAS|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA|1/3||ENST00000624927.3:n.395C>T||395|||||rs1048488||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7340|0.4448|0.8055|0.8839|0.84|0.8108||||||||||0.7239|0.4774|0.7374|0.7897|0.7839|0.8882|0.7964|0.758|0.826|0.7538|0.7927|0.8882|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+2138G>A|||||||rs1048488||-1||SNV|||YES|||5||||||||||||||0.7340|0.4448|0.8055|0.8839|0.84|0.8108||||||||||0.7239|0.4774|0.7374|0.7897|0.7839|0.8882|0.7964|0.758|0.826|0.7538|0.7927|0.8882|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+2138G>A|||||||rs1048488||-1||SNV||||||5||||||||||||||0.7340|0.4448|0.8055|0.8839|0.84|0.8108||||||||||0.7239|0.4774|0.7374|0.7897|0.7839|0.8882|0.7964|0.758|0.826|0.7538|0.7927|0.8882|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA||||||||||rs1048488|2274|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7340|0.4448|0.8055|0.8839|0.84|0.8108||||||||||0.7239|0.4774|0.7374|0.7897|0.7839|0.8882|0.7964|0.758|0.826|0.7538|0.7927|0.8882|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA||||||||||rs1048488|2141|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7340|0.4448|0.8055|0.8839|0.84|0.8108||||||||||0.7239|0.4774|0.7374|0.7897|0.7839|0.8882|0.7964|0.758|0.826|0.7538|0.7927|0.8882|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA||||||||||rs1048488|2103|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7340|0.4448|0.8055|0.8839|0.84|0.8108||||||||||0.7239|0.4774|0.7374|0.7897|0.7839|0.8882|0.7964|0.758|0.826|0.7538|0.7927|0.8882|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA||||||||||rs1048488|2076|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7340|0.4448|0.8055|0.8839|0.84|0.8108||||||||||0.7239|0.4774|0.7374|0.7897|0.7839|0.8882|0.7964|0.758|0.826|0.7538|0.7927|0.8882|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000660797|lncRNA||||||||||rs1048488|2283|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7340|0.4448|0.8055|0.8839|0.84|0.8108||||||||||0.7239|0.4774|0.7374|0.7897|0.7839|0.8882|0.7964|0.758|0.826|0.7538|0.7927|0.8882|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA||||||||||rs1048488|2127|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7340|0.4448|0.8055|0.8839|0.84|0.8108||||||||||0.7239|0.4774|0.7374|0.7897|0.7839|0.8882|0.7964|0.758|0.826|0.7538|0.7927|0.8882|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA||||||||||rs1048488|2103|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7340|0.4448|0.8055|0.8839|0.84|0.8108||||||||||0.7239|0.4774|0.7374|0.7897|0.7839|0.8882|0.7964|0.758|0.826|0.7538|0.7927|0.8882|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000667414|lncRNA||||||||||rs1048488|2103|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7340|0.4448|0.8055|0.8839|0.84|0.8108||||||||||0.7239|0.4774|0.7374|0.7897|0.7839|0.8882|0.7964|0.758|0.826|0.7538|0.7927|0.8882|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000668541|lncRNA||||||||||rs1048488|2239|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7340|0.4448|0.8055|0.8839|0.84|0.8108||||||||||0.7239|0.4774|0.7374|0.7897|0.7839|0.8882|0.7964|0.758|0.826|0.7538|0.7927|0.8882|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000669922|lncRNA||||||||||rs1048488|2071|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7340|0.4448|0.8055|0.8839|0.84|0.8108||||||||||0.7239|0.4774|0.7374|0.7897|0.7839|0.8882|0.7964|0.758|0.826|0.7538|0.7927|0.8882|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA||||||||||rs1048488|2072|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7340|0.4448|0.8055|0.8839|0.84|0.8108||||||||||0.7239|0.4774|0.7374|0.7897|0.7839|0.8882|0.7964|0.758|0.826|0.7538|0.7927|0.8882|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||||||||||rs1048488|1321|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7340|0.4448|0.8055|0.8839|0.84|0.8108||||||||||0.7239|0.4774|0.7374|0.7897|0.7839|0.8882|0.7964|0.758|0.826|0.7538|0.7927|0.8882|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA||||||||||rs1048488|2129|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7340|0.4448|0.8055|0.8839|0.84|0.8108||||||||||0.7239|0.4774|0.7374|0.7897|0.7839|0.8882|0.7964|0.758|0.826|0.7538|0.7927|0.8882|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA||||||||||rs1048488|2111|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7340|0.4448|0.8055|0.8839|0.84|0.8108||||||||||0.7239|0.4774|0.7374|0.7897|0.7839|0.8882|0.7964|0.758|0.826|0.7538|0.7927|0.8882|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685879|lncRNA||||||||||rs1048488|2120|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7340|0.4448|0.8055|0.8839|0.84|0.8108||||||||||0.7239|0.4774|0.7374|0.7897|0.7839|0.8882|0.7964|0.758|0.826|0.7538|0.7927|0.8882|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA||||||||||rs1048488|2127|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7340|0.4448|0.8055|0.8839|0.84|0.8108||||||||||0.7239|0.4774|0.7374|0.7897|0.7839|0.8882|0.7964|0.758|0.826|0.7538|0.7927|0.8882|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA||||||||||rs1048488|2105|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7340|0.4448|0.8055|0.8839|0.84|0.8108||||||||||0.7239|0.4774|0.7374|0.7897|0.7839|0.8882|0.7964|0.758|0.826|0.7538|0.7927|0.8882|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA||||||||||rs1048488|2076|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7340|0.4448|0.8055|0.8839|0.84|0.8108||||||||||0.7239|0.4774|0.7374|0.7897|0.7839|0.8882|0.7964|0.758|0.826|0.7538|0.7927|0.8882|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA||||||||||rs1048488|2242|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7340|0.4448|0.8055|0.8839|0.84|0.8108||||||||||0.7239|0.4774|0.7374|0.7897|0.7839|0.8882|0.7964|0.758|0.826|0.7538|0.7927|0.8882|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA||||||||||rs1048488|2160|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7340|0.4448|0.8055|0.8839|0.84|0.8108||||||||||0.7239|0.4774|0.7374|0.7897|0.7839|0.8882|0.7964|0.758|0.826|0.7538|0.7927|0.8882|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA||||||||||rs1048488|2161|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7340|0.4448|0.8055|0.8839|0.84|0.8108||||||||||0.7239|0.4774|0.7374|0.7897|0.7839|0.8882|0.7964|0.758|0.826|0.7538|0.7927|0.8882|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA||||||||||rs1048488|2135|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7340|0.4448|0.8055|0.8839|0.84|0.8108||||||||||0.7239|0.4774|0.7374|0.7897|0.7839|0.8882|0.7964|0.758|0.826|0.7538|0.7927|0.8882|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA||||||||||rs1048488|2141|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7340|0.4448|0.8055|0.8839|0.84|0.8108||||||||||0.7239|0.4774|0.7374|0.7897|0.7839|0.8882|0.7964|0.758|0.826|0.7538|0.7927|0.8882|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA||||||||||rs1048488|2189|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7340|0.4448|0.8055|0.8839|0.84|0.8108||||||||||0.7239|0.4774|0.7374|0.7897|0.7839|0.8882|0.7964|0.758|0.826|0.7538|0.7927|0.8882|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA||||||||||rs1048488|2170|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7340|0.4448|0.8055|0.8839|0.84|0.8108||||||||||0.7239|0.4774|0.7374|0.7897|0.7839|0.8882|0.7964|0.758|0.826|0.7538|0.7927|0.8882|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA||||||||||rs1048488|2237|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7340|0.4448|0.8055|0.8839|0.84|0.8108||||||||||0.7239|0.4774|0.7374|0.7897|0.7839|0.8882|0.7964|0.758|0.826|0.7538|0.7927|0.8882|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA||||||||||rs1048488|2239|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7340|0.4448|0.8055|0.8839|0.84|0.8108||||||||||0.7239|0.4774|0.7374|0.7897|0.7839|0.8882|0.7964|0.758|0.826|0.7538|0.7927|0.8882|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 825767 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=1;GERMQ=52;MBQ=0,34;MFRL=0,0;MMQ=60,45;MPOS=126;POPAF=7.3;TLOD=14.63;SRC=custom;GRP=custom;CSQ=C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA||||||||||rs3115850|1900|1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000441765|lncRNA||||||||||rs3115850|1900|1||SNV|HGNC|HGNC:49377||||2||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA||||||||||rs3115850|1831|1||SNV|HGNC|HGNC:49377|YES|||1||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA||||||||||rs3115850|1890|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA||||||||||rs3115850|1892|1||SNV|HGNC|HGNC:49377||||1||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC00115|ENSG00000225880|Transcript|ENST00000473798|lncRNA|1/1||ENST00000473798.2:n.1773A>G||1773|||||rs3115850||-1||SNV|HGNC|HGNC:26211|YES|||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA||||||||||rs3115850|1887|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA||||||||||rs3115850|1900|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA||||||||||rs3115850|1900|1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000610067|lncRNA||||||||||rs3115850|1841|1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA||||||||||rs3115850|2054|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA||||||||||rs3115850|1885|1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA||||||||||rs3115850|1065|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||1/2|ENST00000624927.3:n.415+215T>C|||||||rs3115850||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+1903A>G|||||||rs3115850||-1||SNV|||YES|||5||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+1903A>G|||||||rs3115850||-1||SNV||||||5||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA||||||||||rs3115850|2039|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA||||||||||rs3115850|1906|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA||||||||||rs3115850|1868|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA||||||||||rs3115850|1841|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000660797|lncRNA||||||||||rs3115850|2048|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA||||||||||rs3115850|1892|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA||||||||||rs3115850|1868|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000667414|lncRNA||||||||||rs3115850|1868|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000668541|lncRNA||||||||||rs3115850|2004|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000669922|lncRNA||||||||||rs3115850|1836|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA||||||||||rs3115850|1837|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||||||||||rs3115850|1086|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA||||||||||rs3115850|1894|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA||||||||||rs3115850|1876|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685879|lncRNA||||||||||rs3115850|1885|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA||||||||||rs3115850|1892|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA||||||||||rs3115850|1870|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA||||||||||rs3115850|1841|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA||||||||||rs3115850|2007|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA||||||||||rs3115850|1925|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA||||||||||rs3115850|1926|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA||||||||||rs3115850|1900|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA||||||||||rs3115850|1906|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA||||||||||rs3115850|1954|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA||||||||||rs3115850|1935|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA||||||||||rs3115850|2002|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA||||||||||rs3115850|2004|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000086|promoter||||||||||rs3115850||||SNV||||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 825767 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=1;GERMQ=52;MBQ=0,34;MFRL=0,0;MMQ=60,40;MPOS=77;POPAF=7.3;TLOD=12.45;SRC=custom;GRP=custom;CSQ=C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA||||||||||rs3115850|1900|1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000441765|lncRNA||||||||||rs3115850|1900|1||SNV|HGNC|HGNC:49377||||2||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA||||||||||rs3115850|1831|1||SNV|HGNC|HGNC:49377|YES|||1||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA||||||||||rs3115850|1890|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA||||||||||rs3115850|1892|1||SNV|HGNC|HGNC:49377||||1||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC00115|ENSG00000225880|Transcript|ENST00000473798|lncRNA|1/1||ENST00000473798.2:n.1773A>G||1773|||||rs3115850||-1||SNV|HGNC|HGNC:26211|YES|||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA||||||||||rs3115850|1887|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA||||||||||rs3115850|1900|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA||||||||||rs3115850|1900|1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000610067|lncRNA||||||||||rs3115850|1841|1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA||||||||||rs3115850|2054|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA||||||||||rs3115850|1885|1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA||||||||||rs3115850|1065|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||1/2|ENST00000624927.3:n.415+215T>C|||||||rs3115850||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+1903A>G|||||||rs3115850||-1||SNV|||YES|||5||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+1903A>G|||||||rs3115850||-1||SNV||||||5||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA||||||||||rs3115850|2039|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA||||||||||rs3115850|1906|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA||||||||||rs3115850|1868|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA||||||||||rs3115850|1841|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000660797|lncRNA||||||||||rs3115850|2048|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA||||||||||rs3115850|1892|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA||||||||||rs3115850|1868|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000667414|lncRNA||||||||||rs3115850|1868|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000668541|lncRNA||||||||||rs3115850|2004|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000669922|lncRNA||||||||||rs3115850|1836|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA||||||||||rs3115850|1837|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||||||||||rs3115850|1086|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA||||||||||rs3115850|1894|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA||||||||||rs3115850|1876|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685879|lncRNA||||||||||rs3115850|1885|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA||||||||||rs3115850|1892|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA||||||||||rs3115850|1870|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA||||||||||rs3115850|1841|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA||||||||||rs3115850|2007|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA||||||||||rs3115850|1925|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA||||||||||rs3115850|1926|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA||||||||||rs3115850|1900|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA||||||||||rs3115850|1906|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA||||||||||rs3115850|1954|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA||||||||||rs3115850|1935|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA||||||||||rs3115850|2002|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA||||||||||rs3115850|2004|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000086|promoter||||||||||rs3115850||||SNV||||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.8:4:0,1:0,2:0,3:0,0,2,2 -chr1 826352 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,31;MFRL=0,0;MMQ=60,44;MPOS=11;POPAF=7.3;TLOD=3.28;SRC=custom;GRP=custom;CSQ=T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA||||||||||rs2286139|1315|1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000441765|lncRNA||||||||||rs2286139|1315|1||SNV|HGNC|HGNC:49377||||2||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA||||||||||rs2286139|1246|1||SNV|HGNC|HGNC:49377|YES|||1||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA||||||||||rs2286139|1305|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA||||||||||rs2286139|1307|1||SNV|HGNC|HGNC:49377||||1||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC00115|ENSG00000225880|Transcript|ENST00000473798|lncRNA|1/1||ENST00000473798.2:n.1188G>A||1188|||||rs2286139||-1||SNV|HGNC|HGNC:26211|YES|||||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA||||||||||rs2286139|1302|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA||||||||||rs2286139|1315|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA||||||||||rs2286139|1315|1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000610067|lncRNA||||||||||rs2286139|1256|1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA||||||||||rs2286139|1469|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA||||||||||rs2286139|1300|1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA||||||||||rs2286139|480|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||1/2|ENST00000624927.3:n.415+800C>T|||||||rs2286139||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+1318G>A|||||||rs2286139||-1||SNV|||YES|||5||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+1318G>A|||||||rs2286139||-1||SNV||||||5||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA||||||||||rs2286139|1454|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA||||||||||rs2286139|1321|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA||||||||||rs2286139|1283|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA||||||||||rs2286139|1256|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000660797|lncRNA||||||||||rs2286139|1463|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA||||||||||rs2286139|1307|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA||||||||||rs2286139|1283|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000667414|lncRNA||||||||||rs2286139|1283|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000668541|lncRNA||||||||||rs2286139|1419|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000669922|lncRNA||||||||||rs2286139|1251|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA||||||||||rs2286139|1252|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||||||||||rs2286139|501|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA||||||||||rs2286139|1309|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA||||||||||rs2286139|1291|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685879|lncRNA||||||||||rs2286139|1300|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA||||||||||rs2286139|1307|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA||||||||||rs2286139|1285|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA||||||||||rs2286139|1256|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA||||||||||rs2286139|1422|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA||||||||||rs2286139|1340|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA||||||||||rs2286139|1341|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA||||||||||rs2286139|1315|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA||||||||||rs2286139|1321|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA||||||||||rs2286139|1369|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA||||||||||rs2286139|1350|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA||||||||||rs2286139|1417|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA||||||||||rs2286139|1419|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000086|promoter||||||||||rs2286139||||SNV||||||||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 826893 . G A . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,33;MFRL=0,0;MMQ=60,22;MPOS=41;POPAF=7.3;TLOD=5.05;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000415295|lncRNA||||||||||rs3115849|4712|1||SNV|HGNC|HGNC:49377||||1||||||||||||||0.7318|0.3903|0.8112|0.8879|0.8688|0.8354|0.8188|0.4137|0.7957|0.8429|0.8974|0.8043|0.8598|0.8389|0.8175|0.7301|0.4314|0.761|0.7924|0.8464|0.8941|0.8046|0.793|0.856|0.7611|0.8283|0.8974|gnomADe_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA||||||||||rs3115849|774|1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.7318|0.3903|0.8112|0.8879|0.8688|0.8354|0.8188|0.4137|0.7957|0.8429|0.8974|0.8043|0.8598|0.8389|0.8175|0.7301|0.4314|0.761|0.7924|0.8464|0.8941|0.8046|0.793|0.856|0.7611|0.8283|0.8974|gnomADe_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000441765|lncRNA||||||||||rs3115849|774|1||SNV|HGNC|HGNC:49377||||2||||||||||||||0.7318|0.3903|0.8112|0.8879|0.8688|0.8354|0.8188|0.4137|0.7957|0.8429|0.8974|0.8043|0.8598|0.8389|0.8175|0.7301|0.4314|0.761|0.7924|0.8464|0.8941|0.8046|0.793|0.856|0.7611|0.8283|0.8974|gnomADe_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA||||||||||rs3115849|705|1||SNV|HGNC|HGNC:49377|YES|||1||||||||||||||0.7318|0.3903|0.8112|0.8879|0.8688|0.8354|0.8188|0.4137|0.7957|0.8429|0.8974|0.8043|0.8598|0.8389|0.8175|0.7301|0.4314|0.761|0.7924|0.8464|0.8941|0.8046|0.793|0.856|0.7611|0.8283|0.8974|gnomADe_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA||||||||||rs3115849|764|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7318|0.3903|0.8112|0.8879|0.8688|0.8354|0.8188|0.4137|0.7957|0.8429|0.8974|0.8043|0.8598|0.8389|0.8175|0.7301|0.4314|0.761|0.7924|0.8464|0.8941|0.8046|0.793|0.856|0.7611|0.8283|0.8974|gnomADe_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA||||||||||rs3115849|766|1||SNV|HGNC|HGNC:49377||||1||||||||||||||0.7318|0.3903|0.8112|0.8879|0.8688|0.8354|0.8188|0.4137|0.7957|0.8429|0.8974|0.8043|0.8598|0.8389|0.8175|0.7301|0.4314|0.761|0.7924|0.8464|0.8941|0.8046|0.793|0.856|0.7611|0.8283|0.8974|gnomADe_EAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC00115|ENSG00000225880|Transcript|ENST00000473798|lncRNA|1/1||ENST00000473798.2:n.647C>T||647|||||rs3115849||-1||SNV|HGNC|HGNC:26211|YES|||||||||||||||||0.7318|0.3903|0.8112|0.8879|0.8688|0.8354|0.8188|0.4137|0.7957|0.8429|0.8974|0.8043|0.8598|0.8389|0.8175|0.7301|0.4314|0.761|0.7924|0.8464|0.8941|0.8046|0.793|0.856|0.7611|0.8283|0.8974|gnomADe_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA||||||||||rs3115849|761|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7318|0.3903|0.8112|0.8879|0.8688|0.8354|0.8188|0.4137|0.7957|0.8429|0.8974|0.8043|0.8598|0.8389|0.8175|0.7301|0.4314|0.761|0.7924|0.8464|0.8941|0.8046|0.793|0.856|0.7611|0.8283|0.8974|gnomADe_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA||||||||||rs3115849|774|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7318|0.3903|0.8112|0.8879|0.8688|0.8354|0.8188|0.4137|0.7957|0.8429|0.8974|0.8043|0.8598|0.8389|0.8175|0.7301|0.4314|0.761|0.7924|0.8464|0.8941|0.8046|0.793|0.856|0.7611|0.8283|0.8974|gnomADe_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA||||||||||rs3115849|774|1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.7318|0.3903|0.8112|0.8879|0.8688|0.8354|0.8188|0.4137|0.7957|0.8429|0.8974|0.8043|0.8598|0.8389|0.8175|0.7301|0.4314|0.761|0.7924|0.8464|0.8941|0.8046|0.793|0.856|0.7611|0.8283|0.8974|gnomADe_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000610067|lncRNA||||||||||rs3115849|715|1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.7318|0.3903|0.8112|0.8879|0.8688|0.8354|0.8188|0.4137|0.7957|0.8429|0.8974|0.8043|0.8598|0.8389|0.8175|0.7301|0.4314|0.761|0.7924|0.8464|0.8941|0.8046|0.793|0.856|0.7611|0.8283|0.8974|gnomADe_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA||||||||||rs3115849|928|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7318|0.3903|0.8112|0.8879|0.8688|0.8354|0.8188|0.4137|0.7957|0.8429|0.8974|0.8043|0.8598|0.8389|0.8175|0.7301|0.4314|0.761|0.7924|0.8464|0.8941|0.8046|0.793|0.856|0.7611|0.8283|0.8974|gnomADe_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA||||||||||rs3115849|759|1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.7318|0.3903|0.8112|0.8879|0.8688|0.8354|0.8188|0.4137|0.7957|0.8429|0.8974|0.8043|0.8598|0.8389|0.8175|0.7301|0.4314|0.761|0.7924|0.8464|0.8941|0.8046|0.793|0.856|0.7611|0.8283|0.8974|gnomADe_EAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA|1/5||ENST00000623808.4:n.62G>A||62|||||rs3115849||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7318|0.3903|0.8112|0.8879|0.8688|0.8354|0.8188|0.4137|0.7957|0.8429|0.8974|0.8043|0.8598|0.8389|0.8175|0.7301|0.4314|0.761|0.7924|0.8464|0.8941|0.8046|0.793|0.856|0.7611|0.8283|0.8974|gnomADe_EAS|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||1/2|ENST00000624927.3:n.415+1341G>A|||||||rs3115849||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7318|0.3903|0.8112|0.8879|0.8688|0.8354|0.8188|0.4137|0.7957|0.8429|0.8974|0.8043|0.8598|0.8389|0.8175|0.7301|0.4314|0.761|0.7924|0.8464|0.8941|0.8046|0.793|0.856|0.7611|0.8283|0.8974|gnomADe_EAS|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+777C>T|||||||rs3115849||-1||SNV|||YES|||5||||||||||||||0.7318|0.3903|0.8112|0.8879|0.8688|0.8354|0.8188|0.4137|0.7957|0.8429|0.8974|0.8043|0.8598|0.8389|0.8175|0.7301|0.4314|0.761|0.7924|0.8464|0.8941|0.8046|0.793|0.856|0.7611|0.8283|0.8974|gnomADe_EAS|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+777C>T|||||||rs3115849||-1||SNV||||||5||||||||||||||0.7318|0.3903|0.8112|0.8879|0.8688|0.8354|0.8188|0.4137|0.7957|0.8429|0.8974|0.8043|0.8598|0.8389|0.8175|0.7301|0.4314|0.761|0.7924|0.8464|0.8941|0.8046|0.793|0.856|0.7611|0.8283|0.8974|gnomADe_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA||||||||||rs3115849|913|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7318|0.3903|0.8112|0.8879|0.8688|0.8354|0.8188|0.4137|0.7957|0.8429|0.8974|0.8043|0.8598|0.8389|0.8175|0.7301|0.4314|0.761|0.7924|0.8464|0.8941|0.8046|0.793|0.856|0.7611|0.8283|0.8974|gnomADe_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA||||||||||rs3115849|780|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7318|0.3903|0.8112|0.8879|0.8688|0.8354|0.8188|0.4137|0.7957|0.8429|0.8974|0.8043|0.8598|0.8389|0.8175|0.7301|0.4314|0.761|0.7924|0.8464|0.8941|0.8046|0.793|0.856|0.7611|0.8283|0.8974|gnomADe_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA||||||||||rs3115849|742|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7318|0.3903|0.8112|0.8879|0.8688|0.8354|0.8188|0.4137|0.7957|0.8429|0.8974|0.8043|0.8598|0.8389|0.8175|0.7301|0.4314|0.761|0.7924|0.8464|0.8941|0.8046|0.793|0.856|0.7611|0.8283|0.8974|gnomADe_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA||||||||||rs3115849|715|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7318|0.3903|0.8112|0.8879|0.8688|0.8354|0.8188|0.4137|0.7957|0.8429|0.8974|0.8043|0.8598|0.8389|0.8175|0.7301|0.4314|0.761|0.7924|0.8464|0.8941|0.8046|0.793|0.856|0.7611|0.8283|0.8974|gnomADe_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000660797|lncRNA||||||||||rs3115849|922|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7318|0.3903|0.8112|0.8879|0.8688|0.8354|0.8188|0.4137|0.7957|0.8429|0.8974|0.8043|0.8598|0.8389|0.8175|0.7301|0.4314|0.761|0.7924|0.8464|0.8941|0.8046|0.793|0.856|0.7611|0.8283|0.8974|gnomADe_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA||||||||||rs3115849|766|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7318|0.3903|0.8112|0.8879|0.8688|0.8354|0.8188|0.4137|0.7957|0.8429|0.8974|0.8043|0.8598|0.8389|0.8175|0.7301|0.4314|0.761|0.7924|0.8464|0.8941|0.8046|0.793|0.856|0.7611|0.8283|0.8974|gnomADe_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA||||||||||rs3115849|742|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7318|0.3903|0.8112|0.8879|0.8688|0.8354|0.8188|0.4137|0.7957|0.8429|0.8974|0.8043|0.8598|0.8389|0.8175|0.7301|0.4314|0.761|0.7924|0.8464|0.8941|0.8046|0.793|0.856|0.7611|0.8283|0.8974|gnomADe_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000667414|lncRNA||||||||||rs3115849|742|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7318|0.3903|0.8112|0.8879|0.8688|0.8354|0.8188|0.4137|0.7957|0.8429|0.8974|0.8043|0.8598|0.8389|0.8175|0.7301|0.4314|0.761|0.7924|0.8464|0.8941|0.8046|0.793|0.856|0.7611|0.8283|0.8974|gnomADe_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000668541|lncRNA||||||||||rs3115849|878|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7318|0.3903|0.8112|0.8879|0.8688|0.8354|0.8188|0.4137|0.7957|0.8429|0.8974|0.8043|0.8598|0.8389|0.8175|0.7301|0.4314|0.761|0.7924|0.8464|0.8941|0.8046|0.793|0.856|0.7611|0.8283|0.8974|gnomADe_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000669922|lncRNA||||||||||rs3115849|710|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7318|0.3903|0.8112|0.8879|0.8688|0.8354|0.8188|0.4137|0.7957|0.8429|0.8974|0.8043|0.8598|0.8389|0.8175|0.7301|0.4314|0.761|0.7924|0.8464|0.8941|0.8046|0.793|0.856|0.7611|0.8283|0.8974|gnomADe_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA||||||||||rs3115849|711|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7318|0.3903|0.8112|0.8879|0.8688|0.8354|0.8188|0.4137|0.7957|0.8429|0.8974|0.8043|0.8598|0.8389|0.8175|0.7301|0.4314|0.761|0.7924|0.8464|0.8941|0.8046|0.793|0.856|0.7611|0.8283|0.8974|gnomADe_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670824|lncRNA||||||||||rs3115849|4685|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7318|0.3903|0.8112|0.8879|0.8688|0.8354|0.8188|0.4137|0.7957|0.8429|0.8974|0.8043|0.8598|0.8389|0.8175|0.7301|0.4314|0.761|0.7924|0.8464|0.8941|0.8046|0.793|0.856|0.7611|0.8283|0.8974|gnomADe_EAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA|1/4||ENST00000685334.1:n.41G>A||41|||||rs3115849||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7318|0.3903|0.8112|0.8879|0.8688|0.8354|0.8188|0.4137|0.7957|0.8429|0.8974|0.8043|0.8598|0.8389|0.8175|0.7301|0.4314|0.761|0.7924|0.8464|0.8941|0.8046|0.793|0.856|0.7611|0.8283|0.8974|gnomADe_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA||||||||||rs3115849|768|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7318|0.3903|0.8112|0.8879|0.8688|0.8354|0.8188|0.4137|0.7957|0.8429|0.8974|0.8043|0.8598|0.8389|0.8175|0.7301|0.4314|0.761|0.7924|0.8464|0.8941|0.8046|0.793|0.856|0.7611|0.8283|0.8974|gnomADe_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA||||||||||rs3115849|750|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7318|0.3903|0.8112|0.8879|0.8688|0.8354|0.8188|0.4137|0.7957|0.8429|0.8974|0.8043|0.8598|0.8389|0.8175|0.7301|0.4314|0.761|0.7924|0.8464|0.8941|0.8046|0.793|0.856|0.7611|0.8283|0.8974|gnomADe_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685879|lncRNA||||||||||rs3115849|759|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7318|0.3903|0.8112|0.8879|0.8688|0.8354|0.8188|0.4137|0.7957|0.8429|0.8974|0.8043|0.8598|0.8389|0.8175|0.7301|0.4314|0.761|0.7924|0.8464|0.8941|0.8046|0.793|0.856|0.7611|0.8283|0.8974|gnomADe_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA||||||||||rs3115849|766|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7318|0.3903|0.8112|0.8879|0.8688|0.8354|0.8188|0.4137|0.7957|0.8429|0.8974|0.8043|0.8598|0.8389|0.8175|0.7301|0.4314|0.761|0.7924|0.8464|0.8941|0.8046|0.793|0.856|0.7611|0.8283|0.8974|gnomADe_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA||||||||||rs3115849|744|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7318|0.3903|0.8112|0.8879|0.8688|0.8354|0.8188|0.4137|0.7957|0.8429|0.8974|0.8043|0.8598|0.8389|0.8175|0.7301|0.4314|0.761|0.7924|0.8464|0.8941|0.8046|0.793|0.856|0.7611|0.8283|0.8974|gnomADe_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA||||||||||rs3115849|715|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7318|0.3903|0.8112|0.8879|0.8688|0.8354|0.8188|0.4137|0.7957|0.8429|0.8974|0.8043|0.8598|0.8389|0.8175|0.7301|0.4314|0.761|0.7924|0.8464|0.8941|0.8046|0.793|0.856|0.7611|0.8283|0.8974|gnomADe_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688420|lncRNA||||||||||rs3115849|4724|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7318|0.3903|0.8112|0.8879|0.8688|0.8354|0.8188|0.4137|0.7957|0.8429|0.8974|0.8043|0.8598|0.8389|0.8175|0.7301|0.4314|0.761|0.7924|0.8464|0.8941|0.8046|0.793|0.856|0.7611|0.8283|0.8974|gnomADe_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA||||||||||rs3115849|881|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7318|0.3903|0.8112|0.8879|0.8688|0.8354|0.8188|0.4137|0.7957|0.8429|0.8974|0.8043|0.8598|0.8389|0.8175|0.7301|0.4314|0.761|0.7924|0.8464|0.8941|0.8046|0.793|0.856|0.7611|0.8283|0.8974|gnomADe_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA||||||||||rs3115849|799|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7318|0.3903|0.8112|0.8879|0.8688|0.8354|0.8188|0.4137|0.7957|0.8429|0.8974|0.8043|0.8598|0.8389|0.8175|0.7301|0.4314|0.761|0.7924|0.8464|0.8941|0.8046|0.793|0.856|0.7611|0.8283|0.8974|gnomADe_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA||||||||||rs3115849|800|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7318|0.3903|0.8112|0.8879|0.8688|0.8354|0.8188|0.4137|0.7957|0.8429|0.8974|0.8043|0.8598|0.8389|0.8175|0.7301|0.4314|0.761|0.7924|0.8464|0.8941|0.8046|0.793|0.856|0.7611|0.8283|0.8974|gnomADe_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA||||||||||rs3115849|774|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7318|0.3903|0.8112|0.8879|0.8688|0.8354|0.8188|0.4137|0.7957|0.8429|0.8974|0.8043|0.8598|0.8389|0.8175|0.7301|0.4314|0.761|0.7924|0.8464|0.8941|0.8046|0.793|0.856|0.7611|0.8283|0.8974|gnomADe_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA||||||||||rs3115849|780|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7318|0.3903|0.8112|0.8879|0.8688|0.8354|0.8188|0.4137|0.7957|0.8429|0.8974|0.8043|0.8598|0.8389|0.8175|0.7301|0.4314|0.761|0.7924|0.8464|0.8941|0.8046|0.793|0.856|0.7611|0.8283|0.8974|gnomADe_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA||||||||||rs3115849|828|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7318|0.3903|0.8112|0.8879|0.8688|0.8354|0.8188|0.4137|0.7957|0.8429|0.8974|0.8043|0.8598|0.8389|0.8175|0.7301|0.4314|0.761|0.7924|0.8464|0.8941|0.8046|0.793|0.856|0.7611|0.8283|0.8974|gnomADe_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA||||||||||rs3115849|809|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7318|0.3903|0.8112|0.8879|0.8688|0.8354|0.8188|0.4137|0.7957|0.8429|0.8974|0.8043|0.8598|0.8389|0.8175|0.7301|0.4314|0.761|0.7924|0.8464|0.8941|0.8046|0.793|0.856|0.7611|0.8283|0.8974|gnomADe_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA||||||||||rs3115849|876|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7318|0.3903|0.8112|0.8879|0.8688|0.8354|0.8188|0.4137|0.7957|0.8429|0.8974|0.8043|0.8598|0.8389|0.8175|0.7301|0.4314|0.761|0.7924|0.8464|0.8941|0.8046|0.793|0.856|0.7611|0.8283|0.8974|gnomADe_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA||||||||||rs3115849|878|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7318|0.3903|0.8112|0.8879|0.8688|0.8354|0.8188|0.4137|0.7957|0.8429|0.8974|0.8043|0.8598|0.8389|0.8175|0.7301|0.4314|0.761|0.7924|0.8464|0.8941|0.8046|0.793|0.856|0.7611|0.8283|0.8974|gnomADe_EAS|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000086|promoter||||||||||rs3115849||||SNV||||||||||||||||||||0.7318|0.3903|0.8112|0.8879|0.8688|0.8354|0.8188|0.4137|0.7957|0.8429|0.8974|0.8043|0.8598|0.8389|0.8175|0.7301|0.4314|0.761|0.7924|0.8464|0.8941|0.8046|0.793|0.856|0.7611|0.8283|0.8974|gnomADe_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 827209 . G C . clustered_events;haplotype;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=3;GERMQ=47;MBQ=0,33;MFRL=0,0;MMQ=60,20;MPOS=22;POPAF=7.3;TLOD=8.7;SRC=custom;GRP=custom;CSQ=C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000415295|lncRNA||||||||||rs3115848|4396|1||SNV|HGNC|HGNC:49377||||1||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8079|0.451|0.7921|0.8398|0.8939|0.8028|0.8562|0.8392|0.8083|0.7395|0.4704|0.7633|0.7985|0.8483|0.8923|0.8018|0.7981|0.8551|0.7681|0.8256|0.8939|gnomADe_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA||||||||||rs3115848|458|1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8079|0.451|0.7921|0.8398|0.8939|0.8028|0.8562|0.8392|0.8083|0.7395|0.4704|0.7633|0.7985|0.8483|0.8923|0.8018|0.7981|0.8551|0.7681|0.8256|0.8939|gnomADe_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000441765|lncRNA||||||||||rs3115848|458|1||SNV|HGNC|HGNC:49377||||2||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8079|0.451|0.7921|0.8398|0.8939|0.8028|0.8562|0.8392|0.8083|0.7395|0.4704|0.7633|0.7985|0.8483|0.8923|0.8018|0.7981|0.8551|0.7681|0.8256|0.8939|gnomADe_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA||||||||||rs3115848|389|1||SNV|HGNC|HGNC:49377|YES|||1||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8079|0.451|0.7921|0.8398|0.8939|0.8028|0.8562|0.8392|0.8083|0.7395|0.4704|0.7633|0.7985|0.8483|0.8923|0.8018|0.7981|0.8551|0.7681|0.8256|0.8939|gnomADe_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA||||||||||rs3115848|448|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8079|0.451|0.7921|0.8398|0.8939|0.8028|0.8562|0.8392|0.8083|0.7395|0.4704|0.7633|0.7985|0.8483|0.8923|0.8018|0.7981|0.8551|0.7681|0.8256|0.8939|gnomADe_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA||||||||||rs3115848|450|1||SNV|HGNC|HGNC:49377||||1||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8079|0.451|0.7921|0.8398|0.8939|0.8028|0.8562|0.8392|0.8083|0.7395|0.4704|0.7633|0.7985|0.8483|0.8923|0.8018|0.7981|0.8551|0.7681|0.8256|0.8939|gnomADe_EAS|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC00115|ENSG00000225880|Transcript|ENST00000473798|lncRNA|1/1||ENST00000473798.2:n.331C>G||331|||||rs3115848||-1||SNV|HGNC|HGNC:26211|YES|||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8079|0.451|0.7921|0.8398|0.8939|0.8028|0.8562|0.8392|0.8083|0.7395|0.4704|0.7633|0.7985|0.8483|0.8923|0.8018|0.7981|0.8551|0.7681|0.8256|0.8939|gnomADe_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA||||||||||rs3115848|445|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8079|0.451|0.7921|0.8398|0.8939|0.8028|0.8562|0.8392|0.8083|0.7395|0.4704|0.7633|0.7985|0.8483|0.8923|0.8018|0.7981|0.8551|0.7681|0.8256|0.8939|gnomADe_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA||||||||||rs3115848|458|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8079|0.451|0.7921|0.8398|0.8939|0.8028|0.8562|0.8392|0.8083|0.7395|0.4704|0.7633|0.7985|0.8483|0.8923|0.8018|0.7981|0.8551|0.7681|0.8256|0.8939|gnomADe_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA||||||||||rs3115848|458|1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8079|0.451|0.7921|0.8398|0.8939|0.8028|0.8562|0.8392|0.8083|0.7395|0.4704|0.7633|0.7985|0.8483|0.8923|0.8018|0.7981|0.8551|0.7681|0.8256|0.8939|gnomADe_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000610067|lncRNA||||||||||rs3115848|399|1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8079|0.451|0.7921|0.8398|0.8939|0.8028|0.8562|0.8392|0.8083|0.7395|0.4704|0.7633|0.7985|0.8483|0.8923|0.8018|0.7981|0.8551|0.7681|0.8256|0.8939|gnomADe_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA||||||||||rs3115848|612|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8079|0.451|0.7921|0.8398|0.8939|0.8028|0.8562|0.8392|0.8083|0.7395|0.4704|0.7633|0.7985|0.8483|0.8923|0.8018|0.7981|0.8551|0.7681|0.8256|0.8939|gnomADe_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA||||||||||rs3115848|443|1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8079|0.451|0.7921|0.8398|0.8939|0.8028|0.8562|0.8392|0.8083|0.7395|0.4704|0.7633|0.7985|0.8483|0.8923|0.8018|0.7981|0.8551|0.7681|0.8256|0.8939|gnomADe_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA||1/4|ENST00000623808.4:n.92+286G>C|||||||rs3115848||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8079|0.451|0.7921|0.8398|0.8939|0.8028|0.8562|0.8392|0.8083|0.7395|0.4704|0.7633|0.7985|0.8483|0.8923|0.8018|0.7981|0.8551|0.7681|0.8256|0.8939|gnomADe_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||1/2|ENST00000624927.3:n.415+1657G>C|||||||rs3115848||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8079|0.451|0.7921|0.8398|0.8939|0.8028|0.8562|0.8392|0.8083|0.7395|0.4704|0.7633|0.7985|0.8483|0.8923|0.8018|0.7981|0.8551|0.7681|0.8256|0.8939|gnomADe_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+461C>G|||||||rs3115848||-1||SNV|||YES|||5||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8079|0.451|0.7921|0.8398|0.8939|0.8028|0.8562|0.8392|0.8083|0.7395|0.4704|0.7633|0.7985|0.8483|0.8923|0.8018|0.7981|0.8551|0.7681|0.8256|0.8939|gnomADe_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+461C>G|||||||rs3115848||-1||SNV||||||5||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8079|0.451|0.7921|0.8398|0.8939|0.8028|0.8562|0.8392|0.8083|0.7395|0.4704|0.7633|0.7985|0.8483|0.8923|0.8018|0.7981|0.8551|0.7681|0.8256|0.8939|gnomADe_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA||||||||||rs3115848|597|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8079|0.451|0.7921|0.8398|0.8939|0.8028|0.8562|0.8392|0.8083|0.7395|0.4704|0.7633|0.7985|0.8483|0.8923|0.8018|0.7981|0.8551|0.7681|0.8256|0.8939|gnomADe_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA||||||||||rs3115848|464|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8079|0.451|0.7921|0.8398|0.8939|0.8028|0.8562|0.8392|0.8083|0.7395|0.4704|0.7633|0.7985|0.8483|0.8923|0.8018|0.7981|0.8551|0.7681|0.8256|0.8939|gnomADe_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA||||||||||rs3115848|426|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8079|0.451|0.7921|0.8398|0.8939|0.8028|0.8562|0.8392|0.8083|0.7395|0.4704|0.7633|0.7985|0.8483|0.8923|0.8018|0.7981|0.8551|0.7681|0.8256|0.8939|gnomADe_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA||||||||||rs3115848|399|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8079|0.451|0.7921|0.8398|0.8939|0.8028|0.8562|0.8392|0.8083|0.7395|0.4704|0.7633|0.7985|0.8483|0.8923|0.8018|0.7981|0.8551|0.7681|0.8256|0.8939|gnomADe_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000660797|lncRNA||||||||||rs3115848|606|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8079|0.451|0.7921|0.8398|0.8939|0.8028|0.8562|0.8392|0.8083|0.7395|0.4704|0.7633|0.7985|0.8483|0.8923|0.8018|0.7981|0.8551|0.7681|0.8256|0.8939|gnomADe_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA||||||||||rs3115848|450|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8079|0.451|0.7921|0.8398|0.8939|0.8028|0.8562|0.8392|0.8083|0.7395|0.4704|0.7633|0.7985|0.8483|0.8923|0.8018|0.7981|0.8551|0.7681|0.8256|0.8939|gnomADe_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA||||||||||rs3115848|426|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8079|0.451|0.7921|0.8398|0.8939|0.8028|0.8562|0.8392|0.8083|0.7395|0.4704|0.7633|0.7985|0.8483|0.8923|0.8018|0.7981|0.8551|0.7681|0.8256|0.8939|gnomADe_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000667414|lncRNA||||||||||rs3115848|426|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8079|0.451|0.7921|0.8398|0.8939|0.8028|0.8562|0.8392|0.8083|0.7395|0.4704|0.7633|0.7985|0.8483|0.8923|0.8018|0.7981|0.8551|0.7681|0.8256|0.8939|gnomADe_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000668541|lncRNA||||||||||rs3115848|562|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8079|0.451|0.7921|0.8398|0.8939|0.8028|0.8562|0.8392|0.8083|0.7395|0.4704|0.7633|0.7985|0.8483|0.8923|0.8018|0.7981|0.8551|0.7681|0.8256|0.8939|gnomADe_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000669922|lncRNA||||||||||rs3115848|394|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8079|0.451|0.7921|0.8398|0.8939|0.8028|0.8562|0.8392|0.8083|0.7395|0.4704|0.7633|0.7985|0.8483|0.8923|0.8018|0.7981|0.8551|0.7681|0.8256|0.8939|gnomADe_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA||||||||||rs3115848|395|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8079|0.451|0.7921|0.8398|0.8939|0.8028|0.8562|0.8392|0.8083|0.7395|0.4704|0.7633|0.7985|0.8483|0.8923|0.8018|0.7981|0.8551|0.7681|0.8256|0.8939|gnomADe_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670824|lncRNA||||||||||rs3115848|4369|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8079|0.451|0.7921|0.8398|0.8939|0.8028|0.8562|0.8392|0.8083|0.7395|0.4704|0.7633|0.7985|0.8483|0.8923|0.8018|0.7981|0.8551|0.7681|0.8256|0.8939|gnomADe_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||1/3|ENST00000685334.1:n.71+286G>C|||||||rs3115848||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8079|0.451|0.7921|0.8398|0.8939|0.8028|0.8562|0.8392|0.8083|0.7395|0.4704|0.7633|0.7985|0.8483|0.8923|0.8018|0.7981|0.8551|0.7681|0.8256|0.8939|gnomADe_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA||||||||||rs3115848|452|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8079|0.451|0.7921|0.8398|0.8939|0.8028|0.8562|0.8392|0.8083|0.7395|0.4704|0.7633|0.7985|0.8483|0.8923|0.8018|0.7981|0.8551|0.7681|0.8256|0.8939|gnomADe_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA||||||||||rs3115848|434|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8079|0.451|0.7921|0.8398|0.8939|0.8028|0.8562|0.8392|0.8083|0.7395|0.4704|0.7633|0.7985|0.8483|0.8923|0.8018|0.7981|0.8551|0.7681|0.8256|0.8939|gnomADe_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685879|lncRNA||||||||||rs3115848|443|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8079|0.451|0.7921|0.8398|0.8939|0.8028|0.8562|0.8392|0.8083|0.7395|0.4704|0.7633|0.7985|0.8483|0.8923|0.8018|0.7981|0.8551|0.7681|0.8256|0.8939|gnomADe_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA||||||||||rs3115848|450|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8079|0.451|0.7921|0.8398|0.8939|0.8028|0.8562|0.8392|0.8083|0.7395|0.4704|0.7633|0.7985|0.8483|0.8923|0.8018|0.7981|0.8551|0.7681|0.8256|0.8939|gnomADe_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA||||||||||rs3115848|428|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8079|0.451|0.7921|0.8398|0.8939|0.8028|0.8562|0.8392|0.8083|0.7395|0.4704|0.7633|0.7985|0.8483|0.8923|0.8018|0.7981|0.8551|0.7681|0.8256|0.8939|gnomADe_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA||||||||||rs3115848|399|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8079|0.451|0.7921|0.8398|0.8939|0.8028|0.8562|0.8392|0.8083|0.7395|0.4704|0.7633|0.7985|0.8483|0.8923|0.8018|0.7981|0.8551|0.7681|0.8256|0.8939|gnomADe_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688420|lncRNA||||||||||rs3115848|4408|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8079|0.451|0.7921|0.8398|0.8939|0.8028|0.8562|0.8392|0.8083|0.7395|0.4704|0.7633|0.7985|0.8483|0.8923|0.8018|0.7981|0.8551|0.7681|0.8256|0.8939|gnomADe_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA||||||||||rs3115848|565|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8079|0.451|0.7921|0.8398|0.8939|0.8028|0.8562|0.8392|0.8083|0.7395|0.4704|0.7633|0.7985|0.8483|0.8923|0.8018|0.7981|0.8551|0.7681|0.8256|0.8939|gnomADe_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA||||||||||rs3115848|483|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8079|0.451|0.7921|0.8398|0.8939|0.8028|0.8562|0.8392|0.8083|0.7395|0.4704|0.7633|0.7985|0.8483|0.8923|0.8018|0.7981|0.8551|0.7681|0.8256|0.8939|gnomADe_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA||||||||||rs3115848|484|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8079|0.451|0.7921|0.8398|0.8939|0.8028|0.8562|0.8392|0.8083|0.7395|0.4704|0.7633|0.7985|0.8483|0.8923|0.8018|0.7981|0.8551|0.7681|0.8256|0.8939|gnomADe_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA||||||||||rs3115848|458|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8079|0.451|0.7921|0.8398|0.8939|0.8028|0.8562|0.8392|0.8083|0.7395|0.4704|0.7633|0.7985|0.8483|0.8923|0.8018|0.7981|0.8551|0.7681|0.8256|0.8939|gnomADe_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA||||||||||rs3115848|464|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8079|0.451|0.7921|0.8398|0.8939|0.8028|0.8562|0.8392|0.8083|0.7395|0.4704|0.7633|0.7985|0.8483|0.8923|0.8018|0.7981|0.8551|0.7681|0.8256|0.8939|gnomADe_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA||||||||||rs3115848|512|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8079|0.451|0.7921|0.8398|0.8939|0.8028|0.8562|0.8392|0.8083|0.7395|0.4704|0.7633|0.7985|0.8483|0.8923|0.8018|0.7981|0.8551|0.7681|0.8256|0.8939|gnomADe_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA||||||||||rs3115848|493|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8079|0.451|0.7921|0.8398|0.8939|0.8028|0.8562|0.8392|0.8083|0.7395|0.4704|0.7633|0.7985|0.8483|0.8923|0.8018|0.7981|0.8551|0.7681|0.8256|0.8939|gnomADe_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA||||||||||rs3115848|560|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8079|0.451|0.7921|0.8398|0.8939|0.8028|0.8562|0.8392|0.8083|0.7395|0.4704|0.7633|0.7985|0.8483|0.8923|0.8018|0.7981|0.8551|0.7681|0.8256|0.8939|gnomADe_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA||||||||||rs3115848|562|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8079|0.451|0.7921|0.8398|0.8939|0.8028|0.8562|0.8392|0.8083|0.7395|0.4704|0.7633|0.7985|0.8483|0.8923|0.8018|0.7981|0.8551|0.7681|0.8256|0.8939|gnomADe_EAS|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000086|promoter||||||||||rs3115848||||SNV||||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8079|0.451|0.7921|0.8398|0.8939|0.8028|0.8562|0.8392|0.8083|0.7395|0.4704|0.7633|0.7985|0.8483|0.8923|0.8018|0.7981|0.8551|0.7681|0.8256|0.8939|gnomADe_EAS|||||||||||||,C|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00524693633|||||||||||rs3115848||-1||SNV||||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8079|0.451|0.7921|0.8398|0.8939|0.8028|0.8562|0.8392|0.8083|0.7395|0.4704|0.7633|0.7985|0.8483|0.8923|0.8018|0.7981|0.8551|0.7681|0.8256|0.8939|gnomADe_EAS|||||ENSPFM0568|29|N|0.002|TEAD4::PAX5|||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,2:0.667:2:0,0:0,1:0,1:0|1:827209_G_C:827209:0,0,1,1 -chr1 827212 . C G . clustered_events;haplotype;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=3;GERMQ=47;MBQ=0,33;MFRL=0,0;MMQ=60,20;MPOS=19;POPAF=7.3;TLOD=8.7;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000415295|lncRNA||||||||||rs3131950|4393|1||SNV|HGNC|HGNC:49377||||1||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8077|0.4512|0.7932|0.8379|0.8939|0.8022|0.8568|0.8406|0.8078|0.7403|0.4715|0.7623|0.799|0.8485|0.8923|0.8027|0.8045|0.8554|0.7698|0.8265|0.8939|gnomADe_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA||||||||||rs3131950|455|1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8077|0.4512|0.7932|0.8379|0.8939|0.8022|0.8568|0.8406|0.8078|0.7403|0.4715|0.7623|0.799|0.8485|0.8923|0.8027|0.8045|0.8554|0.7698|0.8265|0.8939|gnomADe_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000441765|lncRNA||||||||||rs3131950|455|1||SNV|HGNC|HGNC:49377||||2||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8077|0.4512|0.7932|0.8379|0.8939|0.8022|0.8568|0.8406|0.8078|0.7403|0.4715|0.7623|0.799|0.8485|0.8923|0.8027|0.8045|0.8554|0.7698|0.8265|0.8939|gnomADe_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA||||||||||rs3131950|386|1||SNV|HGNC|HGNC:49377|YES|||1||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8077|0.4512|0.7932|0.8379|0.8939|0.8022|0.8568|0.8406|0.8078|0.7403|0.4715|0.7623|0.799|0.8485|0.8923|0.8027|0.8045|0.8554|0.7698|0.8265|0.8939|gnomADe_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA||||||||||rs3131950|445|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8077|0.4512|0.7932|0.8379|0.8939|0.8022|0.8568|0.8406|0.8078|0.7403|0.4715|0.7623|0.799|0.8485|0.8923|0.8027|0.8045|0.8554|0.7698|0.8265|0.8939|gnomADe_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA||||||||||rs3131950|447|1||SNV|HGNC|HGNC:49377||||1||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8077|0.4512|0.7932|0.8379|0.8939|0.8022|0.8568|0.8406|0.8078|0.7403|0.4715|0.7623|0.799|0.8485|0.8923|0.8027|0.8045|0.8554|0.7698|0.8265|0.8939|gnomADe_EAS|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC00115|ENSG00000225880|Transcript|ENST00000473798|lncRNA|1/1||ENST00000473798.2:n.328G>C||328|||||rs3131950||-1||SNV|HGNC|HGNC:26211|YES|||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8077|0.4512|0.7932|0.8379|0.8939|0.8022|0.8568|0.8406|0.8078|0.7403|0.4715|0.7623|0.799|0.8485|0.8923|0.8027|0.8045|0.8554|0.7698|0.8265|0.8939|gnomADe_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA||||||||||rs3131950|442|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8077|0.4512|0.7932|0.8379|0.8939|0.8022|0.8568|0.8406|0.8078|0.7403|0.4715|0.7623|0.799|0.8485|0.8923|0.8027|0.8045|0.8554|0.7698|0.8265|0.8939|gnomADe_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA||||||||||rs3131950|455|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8077|0.4512|0.7932|0.8379|0.8939|0.8022|0.8568|0.8406|0.8078|0.7403|0.4715|0.7623|0.799|0.8485|0.8923|0.8027|0.8045|0.8554|0.7698|0.8265|0.8939|gnomADe_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA||||||||||rs3131950|455|1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8077|0.4512|0.7932|0.8379|0.8939|0.8022|0.8568|0.8406|0.8078|0.7403|0.4715|0.7623|0.799|0.8485|0.8923|0.8027|0.8045|0.8554|0.7698|0.8265|0.8939|gnomADe_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000610067|lncRNA||||||||||rs3131950|396|1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8077|0.4512|0.7932|0.8379|0.8939|0.8022|0.8568|0.8406|0.8078|0.7403|0.4715|0.7623|0.799|0.8485|0.8923|0.8027|0.8045|0.8554|0.7698|0.8265|0.8939|gnomADe_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA||||||||||rs3131950|609|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8077|0.4512|0.7932|0.8379|0.8939|0.8022|0.8568|0.8406|0.8078|0.7403|0.4715|0.7623|0.799|0.8485|0.8923|0.8027|0.8045|0.8554|0.7698|0.8265|0.8939|gnomADe_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA||||||||||rs3131950|440|1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8077|0.4512|0.7932|0.8379|0.8939|0.8022|0.8568|0.8406|0.8078|0.7403|0.4715|0.7623|0.799|0.8485|0.8923|0.8027|0.8045|0.8554|0.7698|0.8265|0.8939|gnomADe_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA||1/4|ENST00000623808.4:n.92+289C>G|||||||rs3131950||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8077|0.4512|0.7932|0.8379|0.8939|0.8022|0.8568|0.8406|0.8078|0.7403|0.4715|0.7623|0.799|0.8485|0.8923|0.8027|0.8045|0.8554|0.7698|0.8265|0.8939|gnomADe_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||1/2|ENST00000624927.3:n.415+1660C>G|||||||rs3131950||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8077|0.4512|0.7932|0.8379|0.8939|0.8022|0.8568|0.8406|0.8078|0.7403|0.4715|0.7623|0.799|0.8485|0.8923|0.8027|0.8045|0.8554|0.7698|0.8265|0.8939|gnomADe_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+458G>C|||||||rs3131950||-1||SNV|||YES|||5||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8077|0.4512|0.7932|0.8379|0.8939|0.8022|0.8568|0.8406|0.8078|0.7403|0.4715|0.7623|0.799|0.8485|0.8923|0.8027|0.8045|0.8554|0.7698|0.8265|0.8939|gnomADe_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+458G>C|||||||rs3131950||-1||SNV||||||5||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8077|0.4512|0.7932|0.8379|0.8939|0.8022|0.8568|0.8406|0.8078|0.7403|0.4715|0.7623|0.799|0.8485|0.8923|0.8027|0.8045|0.8554|0.7698|0.8265|0.8939|gnomADe_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA||||||||||rs3131950|594|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8077|0.4512|0.7932|0.8379|0.8939|0.8022|0.8568|0.8406|0.8078|0.7403|0.4715|0.7623|0.799|0.8485|0.8923|0.8027|0.8045|0.8554|0.7698|0.8265|0.8939|gnomADe_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA||||||||||rs3131950|461|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8077|0.4512|0.7932|0.8379|0.8939|0.8022|0.8568|0.8406|0.8078|0.7403|0.4715|0.7623|0.799|0.8485|0.8923|0.8027|0.8045|0.8554|0.7698|0.8265|0.8939|gnomADe_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA||||||||||rs3131950|423|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8077|0.4512|0.7932|0.8379|0.8939|0.8022|0.8568|0.8406|0.8078|0.7403|0.4715|0.7623|0.799|0.8485|0.8923|0.8027|0.8045|0.8554|0.7698|0.8265|0.8939|gnomADe_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA||||||||||rs3131950|396|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8077|0.4512|0.7932|0.8379|0.8939|0.8022|0.8568|0.8406|0.8078|0.7403|0.4715|0.7623|0.799|0.8485|0.8923|0.8027|0.8045|0.8554|0.7698|0.8265|0.8939|gnomADe_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000660797|lncRNA||||||||||rs3131950|603|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8077|0.4512|0.7932|0.8379|0.8939|0.8022|0.8568|0.8406|0.8078|0.7403|0.4715|0.7623|0.799|0.8485|0.8923|0.8027|0.8045|0.8554|0.7698|0.8265|0.8939|gnomADe_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA||||||||||rs3131950|447|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8077|0.4512|0.7932|0.8379|0.8939|0.8022|0.8568|0.8406|0.8078|0.7403|0.4715|0.7623|0.799|0.8485|0.8923|0.8027|0.8045|0.8554|0.7698|0.8265|0.8939|gnomADe_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA||||||||||rs3131950|423|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8077|0.4512|0.7932|0.8379|0.8939|0.8022|0.8568|0.8406|0.8078|0.7403|0.4715|0.7623|0.799|0.8485|0.8923|0.8027|0.8045|0.8554|0.7698|0.8265|0.8939|gnomADe_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000667414|lncRNA||||||||||rs3131950|423|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8077|0.4512|0.7932|0.8379|0.8939|0.8022|0.8568|0.8406|0.8078|0.7403|0.4715|0.7623|0.799|0.8485|0.8923|0.8027|0.8045|0.8554|0.7698|0.8265|0.8939|gnomADe_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000668541|lncRNA||||||||||rs3131950|559|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8077|0.4512|0.7932|0.8379|0.8939|0.8022|0.8568|0.8406|0.8078|0.7403|0.4715|0.7623|0.799|0.8485|0.8923|0.8027|0.8045|0.8554|0.7698|0.8265|0.8939|gnomADe_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000669922|lncRNA||||||||||rs3131950|391|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8077|0.4512|0.7932|0.8379|0.8939|0.8022|0.8568|0.8406|0.8078|0.7403|0.4715|0.7623|0.799|0.8485|0.8923|0.8027|0.8045|0.8554|0.7698|0.8265|0.8939|gnomADe_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA||||||||||rs3131950|392|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8077|0.4512|0.7932|0.8379|0.8939|0.8022|0.8568|0.8406|0.8078|0.7403|0.4715|0.7623|0.799|0.8485|0.8923|0.8027|0.8045|0.8554|0.7698|0.8265|0.8939|gnomADe_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670824|lncRNA||||||||||rs3131950|4366|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8077|0.4512|0.7932|0.8379|0.8939|0.8022|0.8568|0.8406|0.8078|0.7403|0.4715|0.7623|0.799|0.8485|0.8923|0.8027|0.8045|0.8554|0.7698|0.8265|0.8939|gnomADe_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||1/3|ENST00000685334.1:n.71+289C>G|||||||rs3131950||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8077|0.4512|0.7932|0.8379|0.8939|0.8022|0.8568|0.8406|0.8078|0.7403|0.4715|0.7623|0.799|0.8485|0.8923|0.8027|0.8045|0.8554|0.7698|0.8265|0.8939|gnomADe_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA||||||||||rs3131950|449|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8077|0.4512|0.7932|0.8379|0.8939|0.8022|0.8568|0.8406|0.8078|0.7403|0.4715|0.7623|0.799|0.8485|0.8923|0.8027|0.8045|0.8554|0.7698|0.8265|0.8939|gnomADe_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA||||||||||rs3131950|431|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8077|0.4512|0.7932|0.8379|0.8939|0.8022|0.8568|0.8406|0.8078|0.7403|0.4715|0.7623|0.799|0.8485|0.8923|0.8027|0.8045|0.8554|0.7698|0.8265|0.8939|gnomADe_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685879|lncRNA||||||||||rs3131950|440|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8077|0.4512|0.7932|0.8379|0.8939|0.8022|0.8568|0.8406|0.8078|0.7403|0.4715|0.7623|0.799|0.8485|0.8923|0.8027|0.8045|0.8554|0.7698|0.8265|0.8939|gnomADe_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA||||||||||rs3131950|447|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8077|0.4512|0.7932|0.8379|0.8939|0.8022|0.8568|0.8406|0.8078|0.7403|0.4715|0.7623|0.799|0.8485|0.8923|0.8027|0.8045|0.8554|0.7698|0.8265|0.8939|gnomADe_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA||||||||||rs3131950|425|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8077|0.4512|0.7932|0.8379|0.8939|0.8022|0.8568|0.8406|0.8078|0.7403|0.4715|0.7623|0.799|0.8485|0.8923|0.8027|0.8045|0.8554|0.7698|0.8265|0.8939|gnomADe_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA||||||||||rs3131950|396|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8077|0.4512|0.7932|0.8379|0.8939|0.8022|0.8568|0.8406|0.8078|0.7403|0.4715|0.7623|0.799|0.8485|0.8923|0.8027|0.8045|0.8554|0.7698|0.8265|0.8939|gnomADe_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688420|lncRNA||||||||||rs3131950|4405|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8077|0.4512|0.7932|0.8379|0.8939|0.8022|0.8568|0.8406|0.8078|0.7403|0.4715|0.7623|0.799|0.8485|0.8923|0.8027|0.8045|0.8554|0.7698|0.8265|0.8939|gnomADe_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA||||||||||rs3131950|562|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8077|0.4512|0.7932|0.8379|0.8939|0.8022|0.8568|0.8406|0.8078|0.7403|0.4715|0.7623|0.799|0.8485|0.8923|0.8027|0.8045|0.8554|0.7698|0.8265|0.8939|gnomADe_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA||||||||||rs3131950|480|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8077|0.4512|0.7932|0.8379|0.8939|0.8022|0.8568|0.8406|0.8078|0.7403|0.4715|0.7623|0.799|0.8485|0.8923|0.8027|0.8045|0.8554|0.7698|0.8265|0.8939|gnomADe_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA||||||||||rs3131950|481|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8077|0.4512|0.7932|0.8379|0.8939|0.8022|0.8568|0.8406|0.8078|0.7403|0.4715|0.7623|0.799|0.8485|0.8923|0.8027|0.8045|0.8554|0.7698|0.8265|0.8939|gnomADe_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA||||||||||rs3131950|455|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8077|0.4512|0.7932|0.8379|0.8939|0.8022|0.8568|0.8406|0.8078|0.7403|0.4715|0.7623|0.799|0.8485|0.8923|0.8027|0.8045|0.8554|0.7698|0.8265|0.8939|gnomADe_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA||||||||||rs3131950|461|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8077|0.4512|0.7932|0.8379|0.8939|0.8022|0.8568|0.8406|0.8078|0.7403|0.4715|0.7623|0.799|0.8485|0.8923|0.8027|0.8045|0.8554|0.7698|0.8265|0.8939|gnomADe_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA||||||||||rs3131950|509|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8077|0.4512|0.7932|0.8379|0.8939|0.8022|0.8568|0.8406|0.8078|0.7403|0.4715|0.7623|0.799|0.8485|0.8923|0.8027|0.8045|0.8554|0.7698|0.8265|0.8939|gnomADe_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA||||||||||rs3131950|490|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8077|0.4512|0.7932|0.8379|0.8939|0.8022|0.8568|0.8406|0.8078|0.7403|0.4715|0.7623|0.799|0.8485|0.8923|0.8027|0.8045|0.8554|0.7698|0.8265|0.8939|gnomADe_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA||||||||||rs3131950|557|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8077|0.4512|0.7932|0.8379|0.8939|0.8022|0.8568|0.8406|0.8078|0.7403|0.4715|0.7623|0.799|0.8485|0.8923|0.8027|0.8045|0.8554|0.7698|0.8265|0.8939|gnomADe_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA||||||||||rs3131950|559|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8077|0.4512|0.7932|0.8379|0.8939|0.8022|0.8568|0.8406|0.8078|0.7403|0.4715|0.7623|0.799|0.8485|0.8923|0.8027|0.8045|0.8554|0.7698|0.8265|0.8939|gnomADe_EAS|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000086|promoter||||||||||rs3131950||||SNV||||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8077|0.4512|0.7932|0.8379|0.8939|0.8022|0.8568|0.8406|0.8078|0.7403|0.4715|0.7623|0.799|0.8485|0.8923|0.8027|0.8045|0.8554|0.7698|0.8265|0.8939|gnomADe_EAS|||||||||||||,G|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00524693633|||||||||||rs3131950||-1||SNV||||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8077|0.4512|0.7932|0.8379|0.8939|0.8022|0.8568|0.8406|0.8078|0.7403|0.4715|0.7623|0.799|0.8485|0.8923|0.8027|0.8045|0.8554|0.7698|0.8265|0.8939|gnomADe_EAS|||||ENSPFM0568|26|N|-0.048|TEAD4::PAX5|||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,2:0.667:2:0,0:0,1:0,1:0|1:827209_G_C:827209:0,0,1,1 -chr1 827221 . T C . clustered_events;haplotype;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=3;GERMQ=47;MBQ=0,31;MFRL=0,0;MMQ=60,20;MPOS=10;POPAF=7.3;TLOD=8.7;SRC=custom;GRP=custom;CSQ=C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000415295|lncRNA||||||||||rs3131949|4384|1||SNV|HGNC|HGNC:49377||||1||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8073|0.4513|0.7934|0.8377|0.894|0.8|0.8565|0.8396|0.8089|0.7422|0.4746|0.7639|0.8002|0.8485|0.8923|0.8036|0.8045|0.8564|0.7723|0.8281|0.894|gnomADe_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA||||||||||rs3131949|446|1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8073|0.4513|0.7934|0.8377|0.894|0.8|0.8565|0.8396|0.8089|0.7422|0.4746|0.7639|0.8002|0.8485|0.8923|0.8036|0.8045|0.8564|0.7723|0.8281|0.894|gnomADe_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000441765|lncRNA||||||||||rs3131949|446|1||SNV|HGNC|HGNC:49377||||2||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8073|0.4513|0.7934|0.8377|0.894|0.8|0.8565|0.8396|0.8089|0.7422|0.4746|0.7639|0.8002|0.8485|0.8923|0.8036|0.8045|0.8564|0.7723|0.8281|0.894|gnomADe_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA||||||||||rs3131949|377|1||SNV|HGNC|HGNC:49377|YES|||1||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8073|0.4513|0.7934|0.8377|0.894|0.8|0.8565|0.8396|0.8089|0.7422|0.4746|0.7639|0.8002|0.8485|0.8923|0.8036|0.8045|0.8564|0.7723|0.8281|0.894|gnomADe_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA||||||||||rs3131949|436|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8073|0.4513|0.7934|0.8377|0.894|0.8|0.8565|0.8396|0.8089|0.7422|0.4746|0.7639|0.8002|0.8485|0.8923|0.8036|0.8045|0.8564|0.7723|0.8281|0.894|gnomADe_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA||||||||||rs3131949|438|1||SNV|HGNC|HGNC:49377||||1||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8073|0.4513|0.7934|0.8377|0.894|0.8|0.8565|0.8396|0.8089|0.7422|0.4746|0.7639|0.8002|0.8485|0.8923|0.8036|0.8045|0.8564|0.7723|0.8281|0.894|gnomADe_EAS|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC00115|ENSG00000225880|Transcript|ENST00000473798|lncRNA|1/1||ENST00000473798.2:n.319A>G||319|||||rs3131949||-1||SNV|HGNC|HGNC:26211|YES|||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8073|0.4513|0.7934|0.8377|0.894|0.8|0.8565|0.8396|0.8089|0.7422|0.4746|0.7639|0.8002|0.8485|0.8923|0.8036|0.8045|0.8564|0.7723|0.8281|0.894|gnomADe_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA||||||||||rs3131949|433|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8073|0.4513|0.7934|0.8377|0.894|0.8|0.8565|0.8396|0.8089|0.7422|0.4746|0.7639|0.8002|0.8485|0.8923|0.8036|0.8045|0.8564|0.7723|0.8281|0.894|gnomADe_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA||||||||||rs3131949|446|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8073|0.4513|0.7934|0.8377|0.894|0.8|0.8565|0.8396|0.8089|0.7422|0.4746|0.7639|0.8002|0.8485|0.8923|0.8036|0.8045|0.8564|0.7723|0.8281|0.894|gnomADe_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA||||||||||rs3131949|446|1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8073|0.4513|0.7934|0.8377|0.894|0.8|0.8565|0.8396|0.8089|0.7422|0.4746|0.7639|0.8002|0.8485|0.8923|0.8036|0.8045|0.8564|0.7723|0.8281|0.894|gnomADe_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000610067|lncRNA||||||||||rs3131949|387|1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8073|0.4513|0.7934|0.8377|0.894|0.8|0.8565|0.8396|0.8089|0.7422|0.4746|0.7639|0.8002|0.8485|0.8923|0.8036|0.8045|0.8564|0.7723|0.8281|0.894|gnomADe_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA||||||||||rs3131949|600|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8073|0.4513|0.7934|0.8377|0.894|0.8|0.8565|0.8396|0.8089|0.7422|0.4746|0.7639|0.8002|0.8485|0.8923|0.8036|0.8045|0.8564|0.7723|0.8281|0.894|gnomADe_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA||||||||||rs3131949|431|1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8073|0.4513|0.7934|0.8377|0.894|0.8|0.8565|0.8396|0.8089|0.7422|0.4746|0.7639|0.8002|0.8485|0.8923|0.8036|0.8045|0.8564|0.7723|0.8281|0.894|gnomADe_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA||1/4|ENST00000623808.4:n.92+298T>C|||||||rs3131949||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8073|0.4513|0.7934|0.8377|0.894|0.8|0.8565|0.8396|0.8089|0.7422|0.4746|0.7639|0.8002|0.8485|0.8923|0.8036|0.8045|0.8564|0.7723|0.8281|0.894|gnomADe_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||1/2|ENST00000624927.3:n.415+1669T>C|||||||rs3131949||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8073|0.4513|0.7934|0.8377|0.894|0.8|0.8565|0.8396|0.8089|0.7422|0.4746|0.7639|0.8002|0.8485|0.8923|0.8036|0.8045|0.8564|0.7723|0.8281|0.894|gnomADe_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+449A>G|||||||rs3131949||-1||SNV|||YES|||5||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8073|0.4513|0.7934|0.8377|0.894|0.8|0.8565|0.8396|0.8089|0.7422|0.4746|0.7639|0.8002|0.8485|0.8923|0.8036|0.8045|0.8564|0.7723|0.8281|0.894|gnomADe_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+449A>G|||||||rs3131949||-1||SNV||||||5||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8073|0.4513|0.7934|0.8377|0.894|0.8|0.8565|0.8396|0.8089|0.7422|0.4746|0.7639|0.8002|0.8485|0.8923|0.8036|0.8045|0.8564|0.7723|0.8281|0.894|gnomADe_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA||||||||||rs3131949|585|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8073|0.4513|0.7934|0.8377|0.894|0.8|0.8565|0.8396|0.8089|0.7422|0.4746|0.7639|0.8002|0.8485|0.8923|0.8036|0.8045|0.8564|0.7723|0.8281|0.894|gnomADe_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA||||||||||rs3131949|452|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8073|0.4513|0.7934|0.8377|0.894|0.8|0.8565|0.8396|0.8089|0.7422|0.4746|0.7639|0.8002|0.8485|0.8923|0.8036|0.8045|0.8564|0.7723|0.8281|0.894|gnomADe_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA||||||||||rs3131949|414|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8073|0.4513|0.7934|0.8377|0.894|0.8|0.8565|0.8396|0.8089|0.7422|0.4746|0.7639|0.8002|0.8485|0.8923|0.8036|0.8045|0.8564|0.7723|0.8281|0.894|gnomADe_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA||||||||||rs3131949|387|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8073|0.4513|0.7934|0.8377|0.894|0.8|0.8565|0.8396|0.8089|0.7422|0.4746|0.7639|0.8002|0.8485|0.8923|0.8036|0.8045|0.8564|0.7723|0.8281|0.894|gnomADe_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000660797|lncRNA||||||||||rs3131949|594|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8073|0.4513|0.7934|0.8377|0.894|0.8|0.8565|0.8396|0.8089|0.7422|0.4746|0.7639|0.8002|0.8485|0.8923|0.8036|0.8045|0.8564|0.7723|0.8281|0.894|gnomADe_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA||||||||||rs3131949|438|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8073|0.4513|0.7934|0.8377|0.894|0.8|0.8565|0.8396|0.8089|0.7422|0.4746|0.7639|0.8002|0.8485|0.8923|0.8036|0.8045|0.8564|0.7723|0.8281|0.894|gnomADe_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA||||||||||rs3131949|414|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8073|0.4513|0.7934|0.8377|0.894|0.8|0.8565|0.8396|0.8089|0.7422|0.4746|0.7639|0.8002|0.8485|0.8923|0.8036|0.8045|0.8564|0.7723|0.8281|0.894|gnomADe_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000667414|lncRNA||||||||||rs3131949|414|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8073|0.4513|0.7934|0.8377|0.894|0.8|0.8565|0.8396|0.8089|0.7422|0.4746|0.7639|0.8002|0.8485|0.8923|0.8036|0.8045|0.8564|0.7723|0.8281|0.894|gnomADe_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000668541|lncRNA||||||||||rs3131949|550|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8073|0.4513|0.7934|0.8377|0.894|0.8|0.8565|0.8396|0.8089|0.7422|0.4746|0.7639|0.8002|0.8485|0.8923|0.8036|0.8045|0.8564|0.7723|0.8281|0.894|gnomADe_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000669922|lncRNA||||||||||rs3131949|382|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8073|0.4513|0.7934|0.8377|0.894|0.8|0.8565|0.8396|0.8089|0.7422|0.4746|0.7639|0.8002|0.8485|0.8923|0.8036|0.8045|0.8564|0.7723|0.8281|0.894|gnomADe_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA||||||||||rs3131949|383|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8073|0.4513|0.7934|0.8377|0.894|0.8|0.8565|0.8396|0.8089|0.7422|0.4746|0.7639|0.8002|0.8485|0.8923|0.8036|0.8045|0.8564|0.7723|0.8281|0.894|gnomADe_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670824|lncRNA||||||||||rs3131949|4357|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8073|0.4513|0.7934|0.8377|0.894|0.8|0.8565|0.8396|0.8089|0.7422|0.4746|0.7639|0.8002|0.8485|0.8923|0.8036|0.8045|0.8564|0.7723|0.8281|0.894|gnomADe_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||1/3|ENST00000685334.1:n.71+298T>C|||||||rs3131949||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8073|0.4513|0.7934|0.8377|0.894|0.8|0.8565|0.8396|0.8089|0.7422|0.4746|0.7639|0.8002|0.8485|0.8923|0.8036|0.8045|0.8564|0.7723|0.8281|0.894|gnomADe_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA||||||||||rs3131949|440|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8073|0.4513|0.7934|0.8377|0.894|0.8|0.8565|0.8396|0.8089|0.7422|0.4746|0.7639|0.8002|0.8485|0.8923|0.8036|0.8045|0.8564|0.7723|0.8281|0.894|gnomADe_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA||||||||||rs3131949|422|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8073|0.4513|0.7934|0.8377|0.894|0.8|0.8565|0.8396|0.8089|0.7422|0.4746|0.7639|0.8002|0.8485|0.8923|0.8036|0.8045|0.8564|0.7723|0.8281|0.894|gnomADe_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685879|lncRNA||||||||||rs3131949|431|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8073|0.4513|0.7934|0.8377|0.894|0.8|0.8565|0.8396|0.8089|0.7422|0.4746|0.7639|0.8002|0.8485|0.8923|0.8036|0.8045|0.8564|0.7723|0.8281|0.894|gnomADe_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA||||||||||rs3131949|438|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8073|0.4513|0.7934|0.8377|0.894|0.8|0.8565|0.8396|0.8089|0.7422|0.4746|0.7639|0.8002|0.8485|0.8923|0.8036|0.8045|0.8564|0.7723|0.8281|0.894|gnomADe_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA||||||||||rs3131949|416|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8073|0.4513|0.7934|0.8377|0.894|0.8|0.8565|0.8396|0.8089|0.7422|0.4746|0.7639|0.8002|0.8485|0.8923|0.8036|0.8045|0.8564|0.7723|0.8281|0.894|gnomADe_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA||||||||||rs3131949|387|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8073|0.4513|0.7934|0.8377|0.894|0.8|0.8565|0.8396|0.8089|0.7422|0.4746|0.7639|0.8002|0.8485|0.8923|0.8036|0.8045|0.8564|0.7723|0.8281|0.894|gnomADe_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688420|lncRNA||||||||||rs3131949|4396|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8073|0.4513|0.7934|0.8377|0.894|0.8|0.8565|0.8396|0.8089|0.7422|0.4746|0.7639|0.8002|0.8485|0.8923|0.8036|0.8045|0.8564|0.7723|0.8281|0.894|gnomADe_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA||||||||||rs3131949|553|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8073|0.4513|0.7934|0.8377|0.894|0.8|0.8565|0.8396|0.8089|0.7422|0.4746|0.7639|0.8002|0.8485|0.8923|0.8036|0.8045|0.8564|0.7723|0.8281|0.894|gnomADe_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA||||||||||rs3131949|471|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8073|0.4513|0.7934|0.8377|0.894|0.8|0.8565|0.8396|0.8089|0.7422|0.4746|0.7639|0.8002|0.8485|0.8923|0.8036|0.8045|0.8564|0.7723|0.8281|0.894|gnomADe_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA||||||||||rs3131949|472|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8073|0.4513|0.7934|0.8377|0.894|0.8|0.8565|0.8396|0.8089|0.7422|0.4746|0.7639|0.8002|0.8485|0.8923|0.8036|0.8045|0.8564|0.7723|0.8281|0.894|gnomADe_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA||||||||||rs3131949|446|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8073|0.4513|0.7934|0.8377|0.894|0.8|0.8565|0.8396|0.8089|0.7422|0.4746|0.7639|0.8002|0.8485|0.8923|0.8036|0.8045|0.8564|0.7723|0.8281|0.894|gnomADe_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA||||||||||rs3131949|452|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8073|0.4513|0.7934|0.8377|0.894|0.8|0.8565|0.8396|0.8089|0.7422|0.4746|0.7639|0.8002|0.8485|0.8923|0.8036|0.8045|0.8564|0.7723|0.8281|0.894|gnomADe_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA||||||||||rs3131949|500|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8073|0.4513|0.7934|0.8377|0.894|0.8|0.8565|0.8396|0.8089|0.7422|0.4746|0.7639|0.8002|0.8485|0.8923|0.8036|0.8045|0.8564|0.7723|0.8281|0.894|gnomADe_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA||||||||||rs3131949|481|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8073|0.4513|0.7934|0.8377|0.894|0.8|0.8565|0.8396|0.8089|0.7422|0.4746|0.7639|0.8002|0.8485|0.8923|0.8036|0.8045|0.8564|0.7723|0.8281|0.894|gnomADe_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA||||||||||rs3131949|548|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8073|0.4513|0.7934|0.8377|0.894|0.8|0.8565|0.8396|0.8089|0.7422|0.4746|0.7639|0.8002|0.8485|0.8923|0.8036|0.8045|0.8564|0.7723|0.8281|0.894|gnomADe_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA||||||||||rs3131949|550|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8073|0.4513|0.7934|0.8377|0.894|0.8|0.8565|0.8396|0.8089|0.7422|0.4746|0.7639|0.8002|0.8485|0.8923|0.8036|0.8045|0.8564|0.7723|0.8281|0.894|gnomADe_EAS|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000086|promoter||||||||||rs3131949||||SNV||||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8073|0.4513|0.7934|0.8377|0.894|0.8|0.8565|0.8396|0.8089|0.7422|0.4746|0.7639|0.8002|0.8485|0.8923|0.8036|0.8045|0.8564|0.7723|0.8281|0.894|gnomADe_EAS|||||||||||||,C|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00524693633|||||||||||rs3131949||-1||SNV||||||||||||||||||||0.7516|0.4584|0.8156|0.8879|0.8718|0.8384|0.8073|0.4513|0.7934|0.8377|0.894|0.8|0.8565|0.8396|0.8089|0.7422|0.4746|0.7639|0.8002|0.8485|0.8923|0.8036|0.8045|0.8564|0.7723|0.8281|0.894|gnomADe_EAS|||||ENSPFM0568|17|N|0.002|TEAD4::PAX5|||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,2:0.667:2:0,0:0,1:0,1:0|1:827209_G_C:827209:0,0,1,1 -chr1 837375 . A C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,38;MPOS=93;POPAF=7.3;TLOD=7.25;SRC=custom;GRP=custom;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000415295|lncRNA||1/1|ENST00000415295.1:n.74-3825A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||1||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA||2/2|ENST00000416570.6:n.211+8271A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000441765|lncRNA||1/1|ENST00000441765.6:n.110-3825A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||2||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA||2/4|ENST00000445118.7:n.280+8271A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377|YES|||1||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA||2/4|ENST00000448975.6:n.221+8271A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA||2/4|ENST00000449005.7:n.219+8271A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||1||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA||2/7|ENST00000608189.6:n.224+8271A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA||2/7|ENST00000609009.6:n.211+8271A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA||2/5|ENST00000609139.7:n.212-3825A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000610067|lncRNA||2/3|ENST00000610067.7:n.270+8271A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA||2/2|ENST00000622921.1:n.135+8271A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA||2/3|ENST00000623070.5:n.226+8271A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA||2/4|ENST00000623808.4:n.194+8271A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||1/2|ENST00000624927.3:n.416-10279A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA||2/5|ENST00000657175.1:n.146+8271A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA||2/5|ENST00000657837.1:n.205+8271A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA||2/4|ENST00000658846.2:n.243+8271A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA||2/6|ENST00000659124.2:n.270+8271A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000660797|lncRNA||2/2|ENST00000660797.1:n.416-3825A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA||2/6|ENST00000661237.3:n.220-3825A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA||2/7|ENST00000666741.2:n.243+8271A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000667414|lncRNA||2/2|ENST00000667414.1:n.243+8271A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000668541|lncRNA||2/2|ENST00000668541.1:n.186-3825A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000669922|lncRNA||2/2|ENST00000669922.1:n.276-3825A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA||2/7|ENST00000670780.1:n.275-3825A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670824|lncRNA||1/1|ENST00000670824.1:n.101-3825A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||1/3|ENST00000685334.1:n.71+10452A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA||1/3|ENST00000685566.1:n.115+9600A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA||2/5|ENST00000685764.2:n.235+8271A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA||2/7|ENST00000686238.1:n.220-3825A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA||2/6|ENST00000688008.2:n.241+8271A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA||2/5|ENST00000688309.1:n.270+8271A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688420|lncRNA||1/4|ENST00000688420.1:n.61+5698A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA||2/6|ENST00000691234.2:n.178+8271A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA||2/6|ENST00000691316.1:n.186+8271A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA||2/5|ENST00000692194.1:n.185+8271A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA||1/4|ENST00000701598.1:n.109+9600A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA||2/6|ENST00000701768.1:n.205+8271A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA||2/5|ENST00000702098.1:n.157+8271A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA||2/4|ENST00000702273.1:n.176+8271A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA||2/4|ENST00000702557.1:n.183+8271A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA||2/5|ENST00000702847.1:n.185+8271A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 838563 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,29;MFRL=0,0;MMQ=60,50;MPOS=78;POPAF=7.3;TLOD=3.08;SRC=custom;GRP=custom;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000415295|lncRNA||1/1|ENST00000415295.1:n.74-2637A>G|||||||||1||SNV|HGNC|HGNC:49377||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA||2/2|ENST00000416570.6:n.211+9459A>G|||||||||1||SNV|HGNC|HGNC:49377||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000441765|lncRNA||1/1|ENST00000441765.6:n.110-2637A>G|||||||||1||SNV|HGNC|HGNC:49377||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA||2/4|ENST00000445118.7:n.280+9459A>G|||||||||1||SNV|HGNC|HGNC:49377|YES|||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA||2/4|ENST00000448975.6:n.222-9091A>G|||||||||1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA||2/4|ENST00000449005.7:n.220-9091A>G|||||||||1||SNV|HGNC|HGNC:49377||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA||2/7|ENST00000608189.6:n.225-9091A>G|||||||||1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA||2/7|ENST00000609009.6:n.212-9091A>G|||||||||1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA||2/5|ENST00000609139.7:n.212-2637A>G|||||||||1||SNV|HGNC|HGNC:49377||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000610067|lncRNA||2/3|ENST00000610067.7:n.271-9091A>G|||||||||1||SNV|HGNC|HGNC:49377||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA||2/2|ENST00000622921.1:n.135+9459A>G|||||||||1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA||2/3|ENST00000623070.5:n.226+9459A>G|||||||||1||SNV|HGNC|HGNC:49377||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA||2/4|ENST00000623808.4:n.194+9459A>G|||||||||1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||1/2|ENST00000624927.3:n.416-9091A>G|||||||||1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA||2/5|ENST00000657175.1:n.147-9091A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA||2/5|ENST00000657837.1:n.205+9459A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA||2/4|ENST00000658846.2:n.244-9091A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA||2/6|ENST00000659124.2:n.271-9091A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000660797|lncRNA||2/2|ENST00000660797.1:n.416-2637A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA||2/6|ENST00000661237.3:n.220-2637A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA||2/7|ENST00000666741.2:n.244-9091A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000667414|lncRNA||2/2|ENST00000667414.1:n.244-9091A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000668541|lncRNA||2/2|ENST00000668541.1:n.186-2637A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000669922|lncRNA||2/2|ENST00000669922.1:n.276-2637A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA||2/7|ENST00000670780.1:n.275-2637A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670824|lncRNA||1/1|ENST00000670824.1:n.101-2637A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||1/3|ENST00000685334.1:n.71+11640A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA||1/3|ENST00000685566.1:n.115+10788A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA||2/5|ENST00000685764.2:n.235+9459A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA||2/7|ENST00000686238.1:n.220-2637A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA||2/6|ENST00000688008.2:n.242-9091A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA||2/5|ENST00000688309.1:n.270+9459A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688420|lncRNA||1/4|ENST00000688420.1:n.61+6886A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA||2/6|ENST00000691234.2:n.179-9091A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA||2/6|ENST00000691316.1:n.187-9091A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA||2/5|ENST00000692194.1:n.186-9091A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA||1/4|ENST00000701598.1:n.110-9091A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA||2/6|ENST00000701768.1:n.206-9091A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA||2/5|ENST00000702098.1:n.158-9091A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA||2/4|ENST00000702273.1:n.176+9459A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA||2/4|ENST00000702557.1:n.183+9459A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA||2/5|ENST00000702847.1:n.186-9091A>G|||||||||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,0:0,1:0,0,0,1 -chr1 839356 . A C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,31;MFRL=0,0;MMQ=60,37;MPOS=121;POPAF=7.3;TLOD=6.68;SRC=custom;GRP=custom;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000415295|lncRNA||1/1|ENST00000415295.1:n.74-1844A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||1||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA||2/2|ENST00000416570.6:n.211+10252A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000441765|lncRNA||1/1|ENST00000441765.6:n.110-1844A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||2||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA||2/4|ENST00000445118.7:n.280+10252A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377|YES|||1||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA||2/4|ENST00000448975.6:n.222-8298A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA||2/4|ENST00000449005.7:n.220-8298A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||1||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA||2/7|ENST00000608189.6:n.225-8298A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA||2/7|ENST00000609009.6:n.212-8298A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA||2/5|ENST00000609139.7:n.212-1844A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000610067|lncRNA||2/3|ENST00000610067.7:n.271-8298A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA||2/2|ENST00000622921.1:n.135+10252A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA||2/3|ENST00000623070.5:n.226+10252A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA||2/4|ENST00000623808.4:n.194+10252A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||1/2|ENST00000624927.3:n.416-8298A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA||2/5|ENST00000657175.1:n.147-8298A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA||2/5|ENST00000657837.1:n.205+10252A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA||2/4|ENST00000658846.2:n.244-8298A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA||2/6|ENST00000659124.2:n.271-8298A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000660797|lncRNA||2/2|ENST00000660797.1:n.416-1844A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA||2/6|ENST00000661237.3:n.220-1844A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA||2/7|ENST00000666741.2:n.244-8298A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000667414|lncRNA||2/2|ENST00000667414.1:n.244-8298A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000668541|lncRNA||2/2|ENST00000668541.1:n.186-1844A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000669922|lncRNA||2/2|ENST00000669922.1:n.276-1844A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA||2/7|ENST00000670780.1:n.275-1844A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670824|lncRNA||1/1|ENST00000670824.1:n.101-1844A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||1/3|ENST00000685334.1:n.71+12433A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA||1/3|ENST00000685566.1:n.115+11581A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA||2/5|ENST00000685764.2:n.235+10252A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA||2/7|ENST00000686238.1:n.220-1844A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA||2/6|ENST00000688008.2:n.242-8298A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA||2/5|ENST00000688309.1:n.270+10252A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688420|lncRNA||1/4|ENST00000688420.1:n.61+7679A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA||2/6|ENST00000691234.2:n.179-8298A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA||2/6|ENST00000691316.1:n.187-8298A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA||2/5|ENST00000692194.1:n.186-8298A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA||1/4|ENST00000701598.1:n.110-8298A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA||2/6|ENST00000701768.1:n.206-8298A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA||2/5|ENST00000702098.1:n.158-8298A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA||2/4|ENST00000702273.1:n.176+10252A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA||2/4|ENST00000702557.1:n.183+10252A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA||2/5|ENST00000702847.1:n.186-8298A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.75:2:0,2:0,0:0,2:0,0,0,2 -chr1 839405 . G A . PASS 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ncRNA||1/3|ENST00000685566.1:n.115+11630G>A|||||||rs28873693||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9375|0.9168|0.9352|0.8839|0.994|0.9642||||||||||0.9242|0.893|0.9259|0.9082|0.9396|0.8463|0.9332|0.9225|0.9464|0.9295|0.9493|0.994|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA||2/5|ENST00000685764.2:n.235+10301G>A|||||||rs28873693||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9375|0.9168|0.9352|0.8839|0.994|0.9642||||||||||0.9242|0.893|0.9259|0.9082|0.9396|0.8463|0.9332|0.9225|0.9464|0.9295|0.9493|0.994|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA||2/7|ENST00000686238.1:n.220-1795G>A|||||||rs28873693||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9375|0.9168|0.9352|0.8839|0.994|0.9642||||||||||0.9242|0.893|0.9259|0.9082|0.9396|0.8463|0.9332|0.9225|0.9464|0.9295|0.9493|0.994|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA||2/6|ENST00000688008.2:n.242-8249G>A|||||||rs28873693||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9375|0.9168|0.9352|0.8839|0.994|0.9642||||||||||0.9242|0.893|0.9259|0.9082|0.9396|0.8463|0.9332|0.9225|0.9464|0.9295|0.9493|0.994|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA||2/5|ENST00000688309.1:n.270+10301G>A|||||||rs28873693||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9375|0.9168|0.9352|0.8839|0.994|0.9642||||||||||0.9242|0.893|0.9259|0.9082|0.9396|0.8463|0.9332|0.9225|0.9464|0.9295|0.9493|0.994|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688420|lncRNA||1/4|ENST00000688420.1:n.61+7728G>A|||||||rs28873693||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9375|0.9168|0.9352|0.8839|0.994|0.9642||||||||||0.9242|0.893|0.9259|0.9082|0.9396|0.8463|0.9332|0.9225|0.9464|0.9295|0.9493|0.994|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA||2/6|ENST00000691234.2:n.179-8249G>A|||||||rs28873693||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9375|0.9168|0.9352|0.8839|0.994|0.9642||||||||||0.9242|0.893|0.9259|0.9082|0.9396|0.8463|0.9332|0.9225|0.9464|0.9295|0.9493|0.994|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA||2/6|ENST00000691316.1:n.187-8249G>A|||||||rs28873693||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9375|0.9168|0.9352|0.8839|0.994|0.9642||||||||||0.9242|0.893|0.9259|0.9082|0.9396|0.8463|0.9332|0.9225|0.9464|0.9295|0.9493|0.994|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA||2/5|ENST00000692194.1:n.186-8249G>A|||||||rs28873693||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9375|0.9168|0.9352|0.8839|0.994|0.9642||||||||||0.9242|0.893|0.9259|0.9082|0.9396|0.8463|0.9332|0.9225|0.9464|0.9295|0.9493|0.994|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA||1/4|ENST00000701598.1:n.110-8249G>A|||||||rs28873693||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9375|0.9168|0.9352|0.8839|0.994|0.9642||||||||||0.9242|0.893|0.9259|0.9082|0.9396|0.8463|0.9332|0.9225|0.9464|0.9295|0.9493|0.994|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA||2/6|ENST00000701768.1:n.206-8249G>A|||||||rs28873693||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9375|0.9168|0.9352|0.8839|0.994|0.9642||||||||||0.9242|0.893|0.9259|0.9082|0.9396|0.8463|0.9332|0.9225|0.9464|0.9295|0.9493|0.994|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA||2/5|ENST00000702098.1:n.158-8249G>A|||||||rs28873693||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9375|0.9168|0.9352|0.8839|0.994|0.9642||||||||||0.9242|0.893|0.9259|0.9082|0.9396|0.8463|0.9332|0.9225|0.9464|0.9295|0.9493|0.994|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA||2/4|ENST00000702273.1:n.176+10301G>A|||||||rs28873693||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9375|0.9168|0.9352|0.8839|0.994|0.9642||||||||||0.9242|0.893|0.9259|0.9082|0.9396|0.8463|0.9332|0.9225|0.9464|0.9295|0.9493|0.994|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA||2/4|ENST00000702557.1:n.183+10301G>A|||||||rs28873693||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9375|0.9168|0.9352|0.8839|0.994|0.9642||||||||||0.9242|0.893|0.9259|0.9082|0.9396|0.8463|0.9332|0.9225|0.9464|0.9295|0.9493|0.994|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA||2/5|ENST00000702847.1:n.186-8249G>A|||||||rs28873693||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9375|0.9168|0.9352|0.8839|0.994|0.9642||||||||||0.9242|0.893|0.9259|0.9082|0.9396|0.8463|0.9332|0.9225|0.9464|0.9295|0.9493|0.994|EUR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 839494 . A C . PASS 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EUR|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||1/2|ENST00000624927.3:n.416-8160A>C|||||||rs28810152||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.6617|0.3003|0.7464|0.7361|0.8698|0.7996||||||||||0.04139|0.05289|0.06863|0.02986|0.0298|0.03059|0.02921|0.01613|0.03628|0.06069|0.04268|0.8698|EUR|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA||2/5|ENST00000657175.1:n.147-8160A>C|||||||rs28810152||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6617|0.3003|0.7464|0.7361|0.8698|0.7996||||||||||0.04139|0.05289|0.06863|0.02986|0.0298|0.03059|0.02921|0.01613|0.03628|0.06069|0.04268|0.8698|EUR|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA||2/5|ENST00000657837.1:n.205+10390A>C|||||||rs28810152||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6617|0.3003|0.7464|0.7361|0.8698|0.7996||||||||||0.04139|0.05289|0.06863|0.02986|0.0298|0.03059|0.02921|0.01613|0.03628|0.06069|0.04268|0.8698|EUR|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA||2/4|ENST00000658846.2:n.244-8160A>C|||||||rs28810152||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6617|0.3003|0.7464|0.7361|0.8698|0.7996||||||||||0.04139|0.05289|0.06863|0.02986|0.0298|0.03059|0.02921|0.01613|0.03628|0.06069|0.04268|0.8698|EUR|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA||2/6|ENST00000659124.2:n.271-8160A>C|||||||rs28810152||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6617|0.3003|0.7464|0.7361|0.8698|0.7996||||||||||0.04139|0.05289|0.06863|0.02986|0.0298|0.03059|0.02921|0.01613|0.03628|0.06069|0.04268|0.8698|EUR|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000660797|lncRNA||2/2|ENST00000660797.1:n.416-1706A>C|||||||rs28810152||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6617|0.3003|0.7464|0.7361|0.8698|0.7996||||||||||0.04139|0.05289|0.06863|0.02986|0.0298|0.03059|0.02921|0.01613|0.03628|0.06069|0.04268|0.8698|EUR|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA||2/6|ENST00000661237.3:n.220-1706A>C|||||||rs28810152||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6617|0.3003|0.7464|0.7361|0.8698|0.7996||||||||||0.04139|0.05289|0.06863|0.02986|0.0298|0.03059|0.02921|0.01613|0.03628|0.06069|0.04268|0.8698|EUR|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA||2/7|ENST00000666741.2:n.244-8160A>C|||||||rs28810152||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6617|0.3003|0.7464|0.7361|0.8698|0.7996||||||||||0.04139|0.05289|0.06863|0.02986|0.0298|0.03059|0.02921|0.01613|0.03628|0.06069|0.04268|0.8698|EUR|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000667414|lncRNA||2/2|ENST00000667414.1:n.244-8160A>C|||||||rs28810152||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6617|0.3003|0.7464|0.7361|0.8698|0.7996||||||||||0.04139|0.05289|0.06863|0.02986|0.0298|0.03059|0.02921|0.01613|0.03628|0.06069|0.04268|0.8698|EUR|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000668541|lncRNA||2/2|ENST00000668541.1:n.186-1706A>C|||||||rs28810152||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6617|0.3003|0.7464|0.7361|0.8698|0.7996||||||||||0.04139|0.05289|0.06863|0.02986|0.0298|0.03059|0.02921|0.01613|0.03628|0.06069|0.04268|0.8698|EUR|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000669922|lncRNA||2/2|ENST00000669922.1:n.276-1706A>C|||||||rs28810152||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6617|0.3003|0.7464|0.7361|0.8698|0.7996||||||||||0.04139|0.05289|0.06863|0.02986|0.0298|0.03059|0.02921|0.01613|0.03628|0.06069|0.04268|0.8698|EUR|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA||2/7|ENST00000670780.1:n.275-1706A>C|||||||rs28810152||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6617|0.3003|0.7464|0.7361|0.8698|0.7996||||||||||0.04139|0.05289|0.06863|0.02986|0.0298|0.03059|0.02921|0.01613|0.03628|0.06069|0.04268|0.8698|EUR|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670824|lncRNA||1/1|ENST00000670824.1:n.101-1706A>C|||||||rs28810152||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6617|0.3003|0.7464|0.7361|0.8698|0.7996||||||||||0.04139|0.05289|0.06863|0.02986|0.0298|0.03059|0.02921|0.01613|0.03628|0.06069|0.04268|0.8698|EUR|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||1/3|ENST00000685334.1:n.72-12433A>C|||||||rs28810152||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6617|0.3003|0.7464|0.7361|0.8698|0.7996||||||||||0.04139|0.05289|0.06863|0.02986|0.0298|0.03059|0.02921|0.01613|0.03628|0.06069|0.04268|0.8698|EUR|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA||1/3|ENST00000685566.1:n.115+11719A>C|||||||rs28810152||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6617|0.3003|0.7464|0.7361|0.8698|0.7996||||||||||0.04139|0.05289|0.06863|0.02986|0.0298|0.03059|0.02921|0.01613|0.03628|0.06069|0.04268|0.8698|EUR|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA||2/5|ENST00000685764.2:n.235+10390A>C|||||||rs28810152||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6617|0.3003|0.7464|0.7361|0.8698|0.7996||||||||||0.04139|0.05289|0.06863|0.02986|0.0298|0.03059|0.02921|0.01613|0.03628|0.06069|0.04268|0.8698|EUR|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA||2/7|ENST00000686238.1:n.220-1706A>C|||||||rs28810152||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6617|0.3003|0.7464|0.7361|0.8698|0.7996||||||||||0.04139|0.05289|0.06863|0.02986|0.0298|0.03059|0.02921|0.01613|0.03628|0.06069|0.04268|0.8698|EUR|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA||2/6|ENST00000688008.2:n.242-8160A>C|||||||rs28810152||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6617|0.3003|0.7464|0.7361|0.8698|0.7996||||||||||0.04139|0.05289|0.06863|0.02986|0.0298|0.03059|0.02921|0.01613|0.03628|0.06069|0.04268|0.8698|EUR|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA||2/5|ENST00000688309.1:n.270+10390A>C|||||||rs28810152||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6617|0.3003|0.7464|0.7361|0.8698|0.7996||||||||||0.04139|0.05289|0.06863|0.02986|0.0298|0.03059|0.02921|0.01613|0.03628|0.06069|0.04268|0.8698|EUR|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688420|lncRNA||1/4|ENST00000688420.1:n.61+7817A>C|||||||rs28810152||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6617|0.3003|0.7464|0.7361|0.8698|0.7996||||||||||0.04139|0.05289|0.06863|0.02986|0.0298|0.03059|0.02921|0.01613|0.03628|0.06069|0.04268|0.8698|EUR|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA||2/6|ENST00000691234.2:n.179-8160A>C|||||||rs28810152||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6617|0.3003|0.7464|0.7361|0.8698|0.7996||||||||||0.04139|0.05289|0.06863|0.02986|0.0298|0.03059|0.02921|0.01613|0.03628|0.06069|0.04268|0.8698|EUR|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA||2/6|ENST00000691316.1:n.187-8160A>C|||||||rs28810152||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6617|0.3003|0.7464|0.7361|0.8698|0.7996||||||||||0.04139|0.05289|0.06863|0.02986|0.0298|0.03059|0.02921|0.01613|0.03628|0.06069|0.04268|0.8698|EUR|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA||2/5|ENST00000692194.1:n.186-8160A>C|||||||rs28810152||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6617|0.3003|0.7464|0.7361|0.8698|0.7996||||||||||0.04139|0.05289|0.06863|0.02986|0.0298|0.03059|0.02921|0.01613|0.03628|0.06069|0.04268|0.8698|EUR|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA||1/4|ENST00000701598.1:n.110-8160A>C|||||||rs28810152||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6617|0.3003|0.7464|0.7361|0.8698|0.7996||||||||||0.04139|0.05289|0.06863|0.02986|0.0298|0.03059|0.02921|0.01613|0.03628|0.06069|0.04268|0.8698|EUR|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA||2/6|ENST00000701768.1:n.206-8160A>C|||||||rs28810152||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6617|0.3003|0.7464|0.7361|0.8698|0.7996||||||||||0.04139|0.05289|0.06863|0.02986|0.0298|0.03059|0.02921|0.01613|0.03628|0.06069|0.04268|0.8698|EUR|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA||2/5|ENST00000702098.1:n.158-8160A>C|||||||rs28810152||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6617|0.3003|0.7464|0.7361|0.8698|0.7996||||||||||0.04139|0.05289|0.06863|0.02986|0.0298|0.03059|0.02921|0.01613|0.03628|0.06069|0.04268|0.8698|EUR|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA||2/4|ENST00000702273.1:n.176+10390A>C|||||||rs28810152||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6617|0.3003|0.7464|0.7361|0.8698|0.7996||||||||||0.04139|0.05289|0.06863|0.02986|0.0298|0.03059|0.02921|0.01613|0.03628|0.06069|0.04268|0.8698|EUR|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA||2/4|ENST00000702557.1:n.183+10390A>C|||||||rs28810152||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6617|0.3003|0.7464|0.7361|0.8698|0.7996||||||||||0.04139|0.05289|0.06863|0.02986|0.0298|0.03059|0.02921|0.01613|0.03628|0.06069|0.04268|0.8698|EUR|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA||2/5|ENST00000702847.1:n.186-8160A>C|||||||rs28810152||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6617|0.3003|0.7464|0.7361|0.8698|0.7996||||||||||0.04139|0.05289|0.06863|0.02986|0.0298|0.03059|0.02921|0.01613|0.03628|0.06069|0.04268|0.8698|EUR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,2:0.667:2:0,0:0,1:0,1:0|1:839494_A_C:839494:0,0,1,1 -chr1 839503 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=2;GERMQ=47;MBQ=0,32;MFRL=0,0;MMQ=60,46;MPOS=143;POPAF=7.3;TLOD=8.7;SRC=custom;GRP=custom;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000415295|lncRNA||1/1|ENST00000415295.1:n.74-1697G>A|||||||rs150992201||1||SNV|HGNC|HGNC:49377||||1|||||||||||||||||||||||||||||0.02616|0.01359|0.09615|0.03498|0.0493|0.05085|0.0393|0.07143|0.07724|0.07527|0.05042|0.09615|gnomADg_AMI|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA||2/2|ENST00000416570.6:n.211+10399G>A|||||||rs150992201||1||SNV|HGNC|HGNC:49377||||3|||||||||||||||||||||||||||||0.02616|0.01359|0.09615|0.03498|0.0493|0.05085|0.0393|0.07143|0.07724|0.07527|0.05042|0.09615|gnomADg_AMI|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000441765|lncRNA||1/1|ENST00000441765.6:n.110-1697G>A|||||||rs150992201||1||SNV|HGNC|HGNC:49377||||2|||||||||||||||||||||||||||||0.02616|0.01359|0.09615|0.03498|0.0493|0.05085|0.0393|0.07143|0.07724|0.07527|0.05042|0.09615|gnomADg_AMI|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA||2/4|ENST00000445118.7:n.280+10399G>A|||||||rs150992201||1||SNV|HGNC|HGNC:49377|YES|||1|||||||||||||||||||||||||||||0.02616|0.01359|0.09615|0.03498|0.0493|0.05085|0.0393|0.07143|0.07724|0.07527|0.05042|0.09615|gnomADg_AMI|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA||2/4|ENST00000448975.6:n.222-8151G>A|||||||rs150992201||1||SNV|HGNC|HGNC:49377||||5|||||||||||||||||||||||||||||0.02616|0.01359|0.09615|0.03498|0.0493|0.05085|0.0393|0.07143|0.07724|0.07527|0.05042|0.09615|gnomADg_AMI|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA||2/4|ENST00000449005.7:n.220-8151G>A|||||||rs150992201||1||SNV|HGNC|HGNC:49377||||1|||||||||||||||||||||||||||||0.02616|0.01359|0.09615|0.03498|0.0493|0.05085|0.0393|0.07143|0.07724|0.07527|0.05042|0.09615|gnomADg_AMI|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA||2/7|ENST00000608189.6:n.225-8151G>A|||||||rs150992201||1||SNV|HGNC|HGNC:49377||||5|||||||||||||||||||||||||||||0.02616|0.01359|0.09615|0.03498|0.0493|0.05085|0.0393|0.07143|0.07724|0.07527|0.05042|0.09615|gnomADg_AMI|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA||2/7|ENST00000609009.6:n.212-8151G>A|||||||rs150992201||1||SNV|HGNC|HGNC:49377||||5|||||||||||||||||||||||||||||0.02616|0.01359|0.09615|0.03498|0.0493|0.05085|0.0393|0.07143|0.07724|0.07527|0.05042|0.09615|gnomADg_AMI|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA||2/5|ENST00000609139.7:n.212-1697G>A|||||||rs150992201||1||SNV|HGNC|HGNC:49377||||3|||||||||||||||||||||||||||||0.02616|0.01359|0.09615|0.03498|0.0493|0.05085|0.0393|0.07143|0.07724|0.07527|0.05042|0.09615|gnomADg_AMI|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000610067|lncRNA||2/3|ENST00000610067.7:n.271-8151G>A|||||||rs150992201||1||SNV|HGNC|HGNC:49377||||4|||||||||||||||||||||||||||||0.02616|0.01359|0.09615|0.03498|0.0493|0.05085|0.0393|0.07143|0.07724|0.07527|0.05042|0.09615|gnomADg_AMI|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA||2/2|ENST00000622921.1:n.135+10399G>A|||||||rs150992201||1||SNV|HGNC|HGNC:49377||||5|||||||||||||||||||||||||||||0.02616|0.01359|0.09615|0.03498|0.0493|0.05085|0.0393|0.07143|0.07724|0.07527|0.05042|0.09615|gnomADg_AMI|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA||2/3|ENST00000623070.5:n.226+10399G>A|||||||rs150992201||1||SNV|HGNC|HGNC:49377||||4|||||||||||||||||||||||||||||0.02616|0.01359|0.09615|0.03498|0.0493|0.05085|0.0393|0.07143|0.07724|0.07527|0.05042|0.09615|gnomADg_AMI|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA||2/4|ENST00000623808.4:n.194+10399G>A|||||||rs150992201||1||SNV|HGNC|HGNC:49377||||5|||||||||||||||||||||||||||||0.02616|0.01359|0.09615|0.03498|0.0493|0.05085|0.0393|0.07143|0.07724|0.07527|0.05042|0.09615|gnomADg_AMI|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||1/2|ENST00000624927.3:n.416-8151G>A|||||||rs150992201||1||SNV|HGNC|HGNC:49377||||5|||||||||||||||||||||||||||||0.02616|0.01359|0.09615|0.03498|0.0493|0.05085|0.0393|0.07143|0.07724|0.07527|0.05042|0.09615|gnomADg_AMI|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA||2/5|ENST00000657175.1:n.147-8151G>A|||||||rs150992201||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.02616|0.01359|0.09615|0.03498|0.0493|0.05085|0.0393|0.07143|0.07724|0.07527|0.05042|0.09615|gnomADg_AMI|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA||2/5|ENST00000657837.1:n.205+10399G>A|||||||rs150992201||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.02616|0.01359|0.09615|0.03498|0.0493|0.05085|0.0393|0.07143|0.07724|0.07527|0.05042|0.09615|gnomADg_AMI|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA||2/4|ENST00000658846.2:n.244-8151G>A|||||||rs150992201||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.02616|0.01359|0.09615|0.03498|0.0493|0.05085|0.0393|0.07143|0.07724|0.07527|0.05042|0.09615|gnomADg_AMI|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA||2/6|ENST00000659124.2:n.271-8151G>A|||||||rs150992201||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.02616|0.01359|0.09615|0.03498|0.0493|0.05085|0.0393|0.07143|0.07724|0.07527|0.05042|0.09615|gnomADg_AMI|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000660797|lncRNA||2/2|ENST00000660797.1:n.416-1697G>A|||||||rs150992201||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.02616|0.01359|0.09615|0.03498|0.0493|0.05085|0.0393|0.07143|0.07724|0.07527|0.05042|0.09615|gnomADg_AMI|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA||2/6|ENST00000661237.3:n.220-1697G>A|||||||rs150992201||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.02616|0.01359|0.09615|0.03498|0.0493|0.05085|0.0393|0.07143|0.07724|0.07527|0.05042|0.09615|gnomADg_AMI|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA||2/7|ENST00000666741.2:n.244-8151G>A|||||||rs150992201||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.02616|0.01359|0.09615|0.03498|0.0493|0.05085|0.0393|0.07143|0.07724|0.07527|0.05042|0.09615|gnomADg_AMI|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000667414|lncRNA||2/2|ENST00000667414.1:n.244-8151G>A|||||||rs150992201||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.02616|0.01359|0.09615|0.03498|0.0493|0.05085|0.0393|0.07143|0.07724|0.07527|0.05042|0.09615|gnomADg_AMI|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000668541|lncRNA||2/2|ENST00000668541.1:n.186-1697G>A|||||||rs150992201||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.02616|0.01359|0.09615|0.03498|0.0493|0.05085|0.0393|0.07143|0.07724|0.07527|0.05042|0.09615|gnomADg_AMI|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000669922|lncRNA||2/2|ENST00000669922.1:n.276-1697G>A|||||||rs150992201||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.02616|0.01359|0.09615|0.03498|0.0493|0.05085|0.0393|0.07143|0.07724|0.07527|0.05042|0.09615|gnomADg_AMI|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA||2/7|ENST00000670780.1:n.275-1697G>A|||||||rs150992201||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.02616|0.01359|0.09615|0.03498|0.0493|0.05085|0.0393|0.07143|0.07724|0.07527|0.05042|0.09615|gnomADg_AMI|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670824|lncRNA||1/1|ENST00000670824.1:n.101-1697G>A|||||||rs150992201||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.02616|0.01359|0.09615|0.03498|0.0493|0.05085|0.0393|0.07143|0.07724|0.07527|0.05042|0.09615|gnomADg_AMI|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||1/3|ENST00000685334.1:n.72-12424G>A|||||||rs150992201||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.02616|0.01359|0.09615|0.03498|0.0493|0.05085|0.0393|0.07143|0.07724|0.07527|0.05042|0.09615|gnomADg_AMI|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA||1/3|ENST00000685566.1:n.115+11728G>A|||||||rs150992201||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.02616|0.01359|0.09615|0.03498|0.0493|0.05085|0.0393|0.07143|0.07724|0.07527|0.05042|0.09615|gnomADg_AMI|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA||2/5|ENST00000685764.2:n.235+10399G>A|||||||rs150992201||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.02616|0.01359|0.09615|0.03498|0.0493|0.05085|0.0393|0.07143|0.07724|0.07527|0.05042|0.09615|gnomADg_AMI|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA||2/7|ENST00000686238.1:n.220-1697G>A|||||||rs150992201||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.02616|0.01359|0.09615|0.03498|0.0493|0.05085|0.0393|0.07143|0.07724|0.07527|0.05042|0.09615|gnomADg_AMI|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA||2/6|ENST00000688008.2:n.242-8151G>A|||||||rs150992201||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.02616|0.01359|0.09615|0.03498|0.0493|0.05085|0.0393|0.07143|0.07724|0.07527|0.05042|0.09615|gnomADg_AMI|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA||2/5|ENST00000688309.1:n.270+10399G>A|||||||rs150992201||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.02616|0.01359|0.09615|0.03498|0.0493|0.05085|0.0393|0.07143|0.07724|0.07527|0.05042|0.09615|gnomADg_AMI|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688420|lncRNA||1/4|ENST00000688420.1:n.61+7826G>A|||||||rs150992201||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.02616|0.01359|0.09615|0.03498|0.0493|0.05085|0.0393|0.07143|0.07724|0.07527|0.05042|0.09615|gnomADg_AMI|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA||2/6|ENST00000691234.2:n.179-8151G>A|||||||rs150992201||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.02616|0.01359|0.09615|0.03498|0.0493|0.05085|0.0393|0.07143|0.07724|0.07527|0.05042|0.09615|gnomADg_AMI|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA||2/6|ENST00000691316.1:n.187-8151G>A|||||||rs150992201||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.02616|0.01359|0.09615|0.03498|0.0493|0.05085|0.0393|0.07143|0.07724|0.07527|0.05042|0.09615|gnomADg_AMI|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA||2/5|ENST00000692194.1:n.186-8151G>A|||||||rs150992201||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.02616|0.01359|0.09615|0.03498|0.0493|0.05085|0.0393|0.07143|0.07724|0.07527|0.05042|0.09615|gnomADg_AMI|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA||1/4|ENST00000701598.1:n.110-8151G>A|||||||rs150992201||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.02616|0.01359|0.09615|0.03498|0.0493|0.05085|0.0393|0.07143|0.07724|0.07527|0.05042|0.09615|gnomADg_AMI|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA||2/6|ENST00000701768.1:n.206-8151G>A|||||||rs150992201||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.02616|0.01359|0.09615|0.03498|0.0493|0.05085|0.0393|0.07143|0.07724|0.07527|0.05042|0.09615|gnomADg_AMI|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA||2/5|ENST00000702098.1:n.158-8151G>A|||||||rs150992201||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.02616|0.01359|0.09615|0.03498|0.0493|0.05085|0.0393|0.07143|0.07724|0.07527|0.05042|0.09615|gnomADg_AMI|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA||2/4|ENST00000702273.1:n.176+10399G>A|||||||rs150992201||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.02616|0.01359|0.09615|0.03498|0.0493|0.05085|0.0393|0.07143|0.07724|0.07527|0.05042|0.09615|gnomADg_AMI|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA||2/4|ENST00000702557.1:n.183+10399G>A|||||||rs150992201||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.02616|0.01359|0.09615|0.03498|0.0493|0.05085|0.0393|0.07143|0.07724|0.07527|0.05042|0.09615|gnomADg_AMI|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA||2/5|ENST00000702847.1:n.186-8151G>A|||||||rs150992201||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.02616|0.01359|0.09615|0.03498|0.0493|0.05085|0.0393|0.07143|0.07724|0.07527|0.05042|0.09615|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,2:0.667:2:0,0:0,1:0,1:0|1:839494_A_C:839494:0,0,1,1 -chr1 841462 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=19%2C19|1%2C1;DP=40;ECNT=1;GERMQ=93;MBQ=33,31;MFRL=0,0;MMQ=54,35;MPOS=38;POPAF=7.3;TLOD=4.35;SRC=custom;GRP=custom;CSQ=G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000415295|lncRNA|2/2||ENST00000415295.1:n.336A>G||336|||||||1||SNV|HGNC|HGNC:49377||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA||2/2|ENST00000416570.6:n.212-10465A>G|||||||||1||SNV|HGNC|HGNC:49377||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000441765|lncRNA|2/2||ENST00000441765.6:n.372A>G||372|||||||1||SNV|HGNC|HGNC:49377||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA||2/4|ENST00000445118.7:n.281-10465A>G|||||||||1||SNV|HGNC|HGNC:49377|YES|||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA||2/4|ENST00000448975.6:n.222-6192A>G|||||||||1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA||2/4|ENST00000449005.7:n.220-6192A>G|||||||||1||SNV|HGNC|HGNC:49377||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA||2/7|ENST00000608189.6:n.225-6192A>G|||||||||1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA||2/7|ENST00000609009.6:n.212-6192A>G|||||||||1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA||3/5|ENST00000609139.7:n.385+89A>G|||||||||1||SNV|HGNC|HGNC:49377||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000610067|lncRNA||2/3|ENST00000610067.7:n.271-6192A>G|||||||||1||SNV|HGNC|HGNC:49377||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA||2/2|ENST00000622921.1:n.136-10465A>G|||||||||1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA||2/3|ENST00000623070.5:n.227-10465A>G|||||||||1||SNV|HGNC|HGNC:49377||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA||2/4|ENST00000623808.4:n.195-10465A>G|||||||||1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||1/2|ENST00000624927.3:n.416-6192A>G|||||||||1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA||2/5|ENST00000657175.1:n.147-6192A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA||2/5|ENST00000657837.1:n.206-10465A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA||2/4|ENST00000658846.2:n.244-6192A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA||2/6|ENST00000659124.2:n.271-6192A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000660797|lncRNA|3/3||ENST00000660797.1:n.678A>G||678|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA||3/6|ENST00000661237.3:n.393+89A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA||2/7|ENST00000666741.2:n.244-6192A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000667414|lncRNA||2/2|ENST00000667414.1:n.244-6192A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000668541|lncRNA|3/3||ENST00000668541.1:n.448A>G||448|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000669922|lncRNA|3/3||ENST00000669922.1:n.538A>G||538|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA|3/8||ENST00000670780.1:n.537A>G||537|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670824|lncRNA|2/2||ENST00000670824.1:n.363A>G||363|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||1/3|ENST00000685334.1:n.72-10465A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA||1/3|ENST00000685566.1:n.116-10465A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA||2/5|ENST00000685764.2:n.236-10465A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA||3/7|ENST00000686238.1:n.393+89A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA||2/6|ENST00000688008.2:n.242-6192A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA||2/5|ENST00000688309.1:n.271-10465A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688420|lncRNA||1/4|ENST00000688420.1:n.62-6192A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA||2/6|ENST00000691234.2:n.179-6192A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA||2/6|ENST00000691316.1:n.187-6192A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA||2/5|ENST00000692194.1:n.186-6192A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA||1/4|ENST00000701598.1:n.110-6192A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA||2/6|ENST00000701768.1:n.206-6192A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA||2/5|ENST00000702098.1:n.158-6192A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA||2/4|ENST00000702273.1:n.177-10465A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA||2/4|ENST00000702557.1:n.184-10465A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA||2/5|ENST00000702847.1:n.186-6192A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918351|enhancer||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:38,2:0.083:40:2,0:19,1:21,1:19,19,1,1 -chr1 841742 . A T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|10%2C12;DP=26;ECNT=1;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,31;MPOS=70;POPAF=7.3;TLOD=72.93;SRC=custom;GRP=custom;CSQ=T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000415295|lncRNA|2/2||ENST00000415295.1:n.616A>T||616|||||rs2980319||1||SNV|HGNC|HGNC:49377||||1||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA||2/2|ENST00000416570.6:n.212-10185A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000441765|lncRNA|2/2||ENST00000441765.6:n.652A>T||652|||||rs2980319||1||SNV|HGNC|HGNC:49377||||2||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA||2/4|ENST00000445118.7:n.281-10185A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377|YES|||1||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA||2/4|ENST00000448975.6:n.222-5912A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA||2/4|ENST00000449005.7:n.220-5912A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||1||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA||2/7|ENST00000608189.6:n.225-5912A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA||2/7|ENST00000609009.6:n.212-5912A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA||3/5|ENST00000609139.7:n.385+369A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000610067|lncRNA||2/3|ENST00000610067.7:n.271-5912A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA||2/2|ENST00000622921.1:n.136-10185A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA||2/3|ENST00000623070.5:n.227-10185A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA||2/4|ENST00000623808.4:n.195-10185A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||1/2|ENST00000624927.3:n.416-5912A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA||2/5|ENST00000657175.1:n.147-5912A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA||2/5|ENST00000657837.1:n.206-10185A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA||2/4|ENST00000658846.2:n.244-5912A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA||2/6|ENST00000659124.2:n.271-5912A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000660797|lncRNA|3/3||ENST00000660797.1:n.958A>T||958|||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA||3/6|ENST00000661237.3:n.393+369A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA||2/7|ENST00000666741.2:n.244-5912A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000667414|lncRNA||2/2|ENST00000667414.1:n.244-5912A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000668541|lncRNA|3/3||ENST00000668541.1:n.728A>T||728|||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000669922|lncRNA|3/3||ENST00000669922.1:n.818A>T||818|||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA|3/8||ENST00000670780.1:n.817A>T||817|||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670824|lncRNA|2/2||ENST00000670824.1:n.643A>T||643|||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||1/3|ENST00000685334.1:n.72-10185A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA||1/3|ENST00000685566.1:n.116-10185A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA||2/5|ENST00000685764.2:n.236-10185A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA||3/7|ENST00000686238.1:n.393+369A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA||2/6|ENST00000688008.2:n.242-5912A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA||2/5|ENST00000688309.1:n.271-10185A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688420|lncRNA||1/4|ENST00000688420.1:n.62-5912A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA||2/6|ENST00000691234.2:n.179-5912A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA||2/6|ENST00000691316.1:n.187-5912A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA||2/5|ENST00000692194.1:n.186-5912A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA||1/4|ENST00000701598.1:n.110-5912A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA||2/6|ENST00000701768.1:n.206-5912A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA||2/5|ENST00000702098.1:n.158-5912A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA||2/4|ENST00000702273.1:n.177-10185A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA||2/4|ENST00000702557.1:n.184-10185A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA||2/5|ENST00000702847.1:n.186-5912A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918351|enhancer||||||||||rs2980319||||SNV||||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,22:0.93:22:0,0:0,10:0,12:0,0,10,12 -chr1 841742 . A T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|9%2C14;DP=25;ECNT=1;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,31;MPOS=69;POPAF=7.3;TLOD=73.02;SRC=custom;GRP=custom;CSQ=T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000415295|lncRNA|2/2||ENST00000415295.1:n.616A>T||616|||||rs2980319||1||SNV|HGNC|HGNC:49377||||1||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA||2/2|ENST00000416570.6:n.212-10185A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000441765|lncRNA|2/2||ENST00000441765.6:n.652A>T||652|||||rs2980319||1||SNV|HGNC|HGNC:49377||||2||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA||2/4|ENST00000445118.7:n.281-10185A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377|YES|||1||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA||2/4|ENST00000448975.6:n.222-5912A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA||2/4|ENST00000449005.7:n.220-5912A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||1||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA||2/7|ENST00000608189.6:n.225-5912A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA||2/7|ENST00000609009.6:n.212-5912A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA||3/5|ENST00000609139.7:n.385+369A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000610067|lncRNA||2/3|ENST00000610067.7:n.271-5912A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA||2/2|ENST00000622921.1:n.136-10185A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA||2/3|ENST00000623070.5:n.227-10185A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA||2/4|ENST00000623808.4:n.195-10185A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||1/2|ENST00000624927.3:n.416-5912A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA||2/5|ENST00000657175.1:n.147-5912A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA||2/5|ENST00000657837.1:n.206-10185A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA||2/4|ENST00000658846.2:n.244-5912A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA||2/6|ENST00000659124.2:n.271-5912A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000660797|lncRNA|3/3||ENST00000660797.1:n.958A>T||958|||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA||3/6|ENST00000661237.3:n.393+369A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA||2/7|ENST00000666741.2:n.244-5912A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000667414|lncRNA||2/2|ENST00000667414.1:n.244-5912A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000668541|lncRNA|3/3||ENST00000668541.1:n.728A>T||728|||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000669922|lncRNA|3/3||ENST00000669922.1:n.818A>T||818|||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA|3/8||ENST00000670780.1:n.817A>T||817|||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670824|lncRNA|2/2||ENST00000670824.1:n.643A>T||643|||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||1/3|ENST00000685334.1:n.72-10185A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA||1/3|ENST00000685566.1:n.116-10185A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA||2/5|ENST00000685764.2:n.236-10185A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA||3/7|ENST00000686238.1:n.393+369A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA||2/6|ENST00000688008.2:n.242-5912A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA||2/5|ENST00000688309.1:n.271-10185A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688420|lncRNA||1/4|ENST00000688420.1:n.62-5912A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA||2/6|ENST00000691234.2:n.179-5912A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA||2/6|ENST00000691316.1:n.187-5912A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA||2/5|ENST00000692194.1:n.186-5912A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA||1/4|ENST00000701598.1:n.110-5912A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA||2/6|ENST00000701768.1:n.206-5912A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA||2/5|ENST00000702098.1:n.158-5912A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA||2/4|ENST00000702273.1:n.177-10185A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA||2/4|ENST00000702557.1:n.184-10185A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA||2/5|ENST00000702847.1:n.186-5912A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918351|enhancer||||||||||rs2980319||||SNV||||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,23:0.939:23:0,5:0,9:0,14:0,0,9,14 -chr1 842714 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=18%2C13|1%2C1;DP=35;ECNT=1;GERMQ=93;MBQ=33,30;MFRL=0,0;MMQ=60,60;MPOS=51;POPAF=7.3;TLOD=4.29;SRC=custom;GRP=custom;CSQ=T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000415295|lncRNA|||||||||||694|1||SNV|HGNC|HGNC:49377||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA||2/2|ENST00000416570.6:n.212-9213C>T|||||||||1||SNV|HGNC|HGNC:49377||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000441765|lncRNA|||||||||||713|1||SNV|HGNC|HGNC:49377||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA||2/4|ENST00000445118.7:n.281-9213C>T|||||||||1||SNV|HGNC|HGNC:49377|YES|||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA||2/4|ENST00000448975.6:n.222-4940C>T|||||||||1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA||2/4|ENST00000449005.7:n.220-4940C>T|||||||||1||SNV|HGNC|HGNC:49377||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA||2/7|ENST00000608189.6:n.225-4940C>T|||||||||1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA||2/7|ENST00000609009.6:n.212-4940C>T|||||||||1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA||3/5|ENST00000609139.7:n.385+1341C>T|||||||||1||SNV|HGNC|HGNC:49377||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000610067|lncRNA||2/3|ENST00000610067.7:n.271-4940C>T|||||||||1||SNV|HGNC|HGNC:49377||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA||2/2|ENST00000622921.1:n.136-9213C>T|||||||||1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA||2/3|ENST00000623070.5:n.227-9213C>T|||||||||1||SNV|HGNC|HGNC:49377||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA||2/4|ENST00000623808.4:n.195-9213C>T|||||||||1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||1/2|ENST00000624927.3:n.416-4940C>T|||||||||1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA||2/5|ENST00000657175.1:n.147-4940C>T|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA||2/5|ENST00000657837.1:n.206-9213C>T|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA||2/4|ENST00000658846.2:n.244-4940C>T|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA||2/6|ENST00000659124.2:n.271-4940C>T|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000660797|lncRNA|||||||||||715|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA||3/6|ENST00000661237.3:n.393+1341C>T|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA||2/7|ENST00000666741.2:n.244-4940C>T|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000667414|lncRNA||2/2|ENST00000667414.1:n.244-4940C>T|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000668541|lncRNA|||||||||||713|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000669922|lncRNA|3/3||ENST00000669922.1:n.1790C>T||1790|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA|3/8||ENST00000670780.1:n.1789C>T||1789|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670824|lncRNA|2/2||ENST00000670824.1:n.1615C>T||1615|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||1/3|ENST00000685334.1:n.72-9213C>T|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA||1/3|ENST00000685566.1:n.116-9213C>T|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA||2/5|ENST00000685764.2:n.236-9213C>T|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA||3/7|ENST00000686238.1:n.393+1341C>T|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA||2/6|ENST00000688008.2:n.242-4940C>T|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA||2/5|ENST00000688309.1:n.271-9213C>T|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688420|lncRNA||1/4|ENST00000688420.1:n.62-4940C>T|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA||2/6|ENST00000691234.2:n.179-4940C>T|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA||2/6|ENST00000691316.1:n.187-4940C>T|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA||2/5|ENST00000692194.1:n.186-4940C>T|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA||1/4|ENST00000701598.1:n.110-4940C>T|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA||2/6|ENST00000701768.1:n.206-4940C>T|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA||2/5|ENST00000702098.1:n.158-4940C>T|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA||2/4|ENST00000702273.1:n.177-9213C>T|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA||2/4|ENST00000702557.1:n.184-9213C>T|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA||2/5|ENST00000702847.1:n.186-4940C>T|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918351|enhancer||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:31,2:0.09:33:1,0:18,1:19,1:18,13,1,1 -chr1 843189 . A G . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|11%2C13;DP=25;ECNT=1;GERMQ=93;MBQ=0,32;MFRL=0,0;MMQ=60,25;MPOS=95;POPAF=7.3;TLOD=73.31;SRC=custom;GRP=custom;CSQ=G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000415295|lncRNA||||||||||rs2977615|1169|1||SNV|HGNC|HGNC:49377||||1||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA||2/2|ENST00000416570.6:n.212-8738A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000441765|lncRNA||||||||||rs2977615|1188|1||SNV|HGNC|HGNC:49377||||2||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA||2/4|ENST00000445118.7:n.281-8738A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377|YES|||1||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA||2/4|ENST00000448975.6:n.222-4465A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA||2/4|ENST00000449005.7:n.220-4465A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||1||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA||2/7|ENST00000608189.6:n.225-4465A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA||2/7|ENST00000609009.6:n.212-4465A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA||3/5|ENST00000609139.7:n.385+1816A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000610067|lncRNA||2/3|ENST00000610067.7:n.271-4465A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA||2/2|ENST00000622921.1:n.136-8738A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA||2/3|ENST00000623070.5:n.227-8738A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA||2/4|ENST00000623808.4:n.195-8738A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||1/2|ENST00000624927.3:n.416-4465A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA||2/5|ENST00000657175.1:n.147-4465A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA||2/5|ENST00000657837.1:n.206-8738A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA||2/4|ENST00000658846.2:n.244-4465A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA||2/6|ENST00000659124.2:n.271-4465A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000660797|lncRNA||||||||||rs2977615|1190|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA||3/6|ENST00000661237.3:n.393+1816A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA||2/7|ENST00000666741.2:n.244-4465A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000667414|lncRNA||2/2|ENST00000667414.1:n.244-4465A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000668541|lncRNA||||||||||rs2977615|1188|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000669922|lncRNA|3/3||ENST00000669922.1:n.2265A>G||2265|||||rs2977615||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA|3/8||ENST00000670780.1:n.2264A>G||2264|||||rs2977615||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670824|lncRNA|2/2||ENST00000670824.1:n.2090A>G||2090|||||rs2977615||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||1/3|ENST00000685334.1:n.72-8738A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA||1/3|ENST00000685566.1:n.116-8738A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA||2/5|ENST00000685764.2:n.236-8738A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA||3/7|ENST00000686238.1:n.393+1816A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA||2/6|ENST00000688008.2:n.242-4465A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA||2/5|ENST00000688309.1:n.271-8738A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688420|lncRNA||1/4|ENST00000688420.1:n.62-4465A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA||2/6|ENST00000691234.2:n.179-4465A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA||2/6|ENST00000691316.1:n.187-4465A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA||2/5|ENST00000692194.1:n.186-4465A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA||1/4|ENST00000701598.1:n.110-4465A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA||2/6|ENST00000701768.1:n.206-4465A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA||2/5|ENST00000702098.1:n.158-4465A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA||2/4|ENST00000702273.1:n.177-8738A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA||2/4|ENST00000702557.1:n.184-8738A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA||2/5|ENST00000702847.1:n.186-4465A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918351|enhancer||||||||||rs2977615||||SNV||||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,24:0.941:24:0,4:0,11:0,15:0,0,11,13 -chr1 843189 . A G . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|10%2C10;DP=21;ECNT=1;GERMQ=93;MBQ=0,32;MFRL=0,0;MMQ=60,27;MPOS=43;POPAF=7.3;TLOD=60.62;SRC=custom;GRP=custom;CSQ=G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000415295|lncRNA||||||||||rs2977615|1169|1||SNV|HGNC|HGNC:49377||||1||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA||2/2|ENST00000416570.6:n.212-8738A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000441765|lncRNA||||||||||rs2977615|1188|1||SNV|HGNC|HGNC:49377||||2||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA||2/4|ENST00000445118.7:n.281-8738A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377|YES|||1||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA||2/4|ENST00000448975.6:n.222-4465A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA||2/4|ENST00000449005.7:n.220-4465A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||1||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA||2/7|ENST00000608189.6:n.225-4465A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA||2/7|ENST00000609009.6:n.212-4465A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA||3/5|ENST00000609139.7:n.385+1816A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000610067|lncRNA||2/3|ENST00000610067.7:n.271-4465A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA||2/2|ENST00000622921.1:n.136-8738A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA||2/3|ENST00000623070.5:n.227-8738A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA||2/4|ENST00000623808.4:n.195-8738A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||1/2|ENST00000624927.3:n.416-4465A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA||2/5|ENST00000657175.1:n.147-4465A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA||2/5|ENST00000657837.1:n.206-8738A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA||2/4|ENST00000658846.2:n.244-4465A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA||2/6|ENST00000659124.2:n.271-4465A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000660797|lncRNA||||||||||rs2977615|1190|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA||3/6|ENST00000661237.3:n.393+1816A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA||2/7|ENST00000666741.2:n.244-4465A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000667414|lncRNA||2/2|ENST00000667414.1:n.244-4465A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000668541|lncRNA||||||||||rs2977615|1188|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000669922|lncRNA|3/3||ENST00000669922.1:n.2265A>G||2265|||||rs2977615||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA|3/8||ENST00000670780.1:n.2264A>G||2264|||||rs2977615||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670824|lncRNA|2/2||ENST00000670824.1:n.2090A>G||2090|||||rs2977615||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||1/3|ENST00000685334.1:n.72-8738A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA||1/3|ENST00000685566.1:n.116-8738A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA||2/5|ENST00000685764.2:n.236-8738A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA||3/7|ENST00000686238.1:n.393+1816A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA||2/6|ENST00000688008.2:n.242-4465A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA||2/5|ENST00000688309.1:n.271-8738A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688420|lncRNA||1/4|ENST00000688420.1:n.62-4465A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA||2/6|ENST00000691234.2:n.179-4465A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA||2/6|ENST00000691316.1:n.187-4465A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA||2/5|ENST00000692194.1:n.186-4465A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA||1/4|ENST00000701598.1:n.110-4465A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA||2/6|ENST00000701768.1:n.206-4465A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA||2/5|ENST00000702098.1:n.158-4465A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA||2/4|ENST00000702273.1:n.177-8738A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA||2/4|ENST00000702557.1:n.184-8738A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA||2/5|ENST00000702847.1:n.186-4465A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918351|enhancer||||||||||rs2977615||||SNV||||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,20:0.937:20:0,3:0,10:0,14:0,0,10,10 -chr1 843390 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C2|1%2C1;DP=6;ECNT=1;GERMQ=39;MBQ=34,32;MFRL=0,0;MMQ=23,42;MPOS=99;POPAF=7.3;TLOD=6.05;SRC=custom;GRP=custom;CSQ=C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000415295|lncRNA||||||||||rs1639202435|1370|1||SNV|HGNC|HGNC:49377||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA||2/2|ENST00000416570.6:n.212-8537T>C|||||||rs1639202435||1||SNV|HGNC|HGNC:49377||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000441765|lncRNA||||||||||rs1639202435|1389|1||SNV|HGNC|HGNC:49377||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA||2/4|ENST00000445118.7:n.281-8537T>C|||||||rs1639202435||1||SNV|HGNC|HGNC:49377|YES|||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA||2/4|ENST00000448975.6:n.222-4264T>C|||||||rs1639202435||1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA||2/4|ENST00000449005.7:n.220-4264T>C|||||||rs1639202435||1||SNV|HGNC|HGNC:49377||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA||2/7|ENST00000608189.6:n.225-4264T>C|||||||rs1639202435||1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA||2/7|ENST00000609009.6:n.212-4264T>C|||||||rs1639202435||1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA||3/5|ENST00000609139.7:n.385+2017T>C|||||||rs1639202435||1||SNV|HGNC|HGNC:49377||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000610067|lncRNA||2/3|ENST00000610067.7:n.271-4264T>C|||||||rs1639202435||1||SNV|HGNC|HGNC:49377||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA||2/2|ENST00000622921.1:n.136-8537T>C|||||||rs1639202435||1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA||2/3|ENST00000623070.5:n.227-8537T>C|||||||rs1639202435||1||SNV|HGNC|HGNC:49377||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA||2/4|ENST00000623808.4:n.195-8537T>C|||||||rs1639202435||1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||1/2|ENST00000624927.3:n.416-4264T>C|||||||rs1639202435||1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA||2/5|ENST00000657175.1:n.147-4264T>C|||||||rs1639202435||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA||2/5|ENST00000657837.1:n.206-8537T>C|||||||rs1639202435||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA||2/4|ENST00000658846.2:n.244-4264T>C|||||||rs1639202435||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA||2/6|ENST00000659124.2:n.271-4264T>C|||||||rs1639202435||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000660797|lncRNA||||||||||rs1639202435|1391|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA||3/6|ENST00000661237.3:n.393+2017T>C|||||||rs1639202435||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA||2/7|ENST00000666741.2:n.244-4264T>C|||||||rs1639202435||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000667414|lncRNA||2/2|ENST00000667414.1:n.244-4264T>C|||||||rs1639202435||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000668541|lncRNA||||||||||rs1639202435|1389|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000669922|lncRNA|3/3||ENST00000669922.1:n.2466T>C||2466|||||rs1639202435||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA|3/8||ENST00000670780.1:n.2465T>C||2465|||||rs1639202435||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670824|lncRNA|2/2||ENST00000670824.1:n.2291T>C||2291|||||rs1639202435||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||1/3|ENST00000685334.1:n.72-8537T>C|||||||rs1639202435||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA||1/3|ENST00000685566.1:n.116-8537T>C|||||||rs1639202435||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA||2/5|ENST00000685764.2:n.236-8537T>C|||||||rs1639202435||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA||3/7|ENST00000686238.1:n.393+2017T>C|||||||rs1639202435||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA||2/6|ENST00000688008.2:n.242-4264T>C|||||||rs1639202435||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA||2/5|ENST00000688309.1:n.271-8537T>C|||||||rs1639202435||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688420|lncRNA||1/4|ENST00000688420.1:n.62-4264T>C|||||||rs1639202435||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA||2/6|ENST00000691234.2:n.179-4264T>C|||||||rs1639202435||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA||2/6|ENST00000691316.1:n.187-4264T>C|||||||rs1639202435||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA||2/5|ENST00000692194.1:n.186-4264T>C|||||||rs1639202435||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA||1/4|ENST00000701598.1:n.110-4264T>C|||||||rs1639202435||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA||2/6|ENST00000701768.1:n.206-4264T>C|||||||rs1639202435||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA||2/5|ENST00000702098.1:n.158-4264T>C|||||||rs1639202435||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA||2/4|ENST00000702273.1:n.177-8537T>C|||||||rs1639202435||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA||2/4|ENST00000702557.1:n.184-8537T>C|||||||rs1639202435||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA||2/5|ENST00000702847.1:n.186-4264T>C|||||||rs1639202435||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918351|enhancer||||||||||rs1639202435||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,2:0.334:6:0,0:2,1:3,1:2,2,1,1 -chr1 844097 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=12%2C9|1%2C1;DP=26;ECNT=1;GERMQ=74;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=47;POPAF=7.3;TLOD=5.37;SRC=custom;GRP=custom;CSQ=A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000415295|lncRNA|||||||||||2077|1||SNV|HGNC|HGNC:49377||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA||2/2|ENST00000416570.6:n.212-7830C>A|||||||||1||SNV|HGNC|HGNC:49377||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000441765|lncRNA|||||||||||2096|1||SNV|HGNC|HGNC:49377||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA||2/4|ENST00000445118.7:n.281-7830C>A|||||||||1||SNV|HGNC|HGNC:49377|YES|||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA||2/4|ENST00000448975.6:n.222-3557C>A|||||||||1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA||2/4|ENST00000449005.7:n.220-3557C>A|||||||||1||SNV|HGNC|HGNC:49377||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA||2/7|ENST00000608189.6:n.225-3557C>A|||||||||1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA||2/7|ENST00000609009.6:n.212-3557C>A|||||||||1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA||3/5|ENST00000609139.7:n.385+2724C>A|||||||||1||SNV|HGNC|HGNC:49377||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000610067|lncRNA||2/3|ENST00000610067.7:n.271-3557C>A|||||||||1||SNV|HGNC|HGNC:49377||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA||2/2|ENST00000622921.1:n.136-7830C>A|||||||||1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA||2/3|ENST00000623070.5:n.227-7830C>A|||||||||1||SNV|HGNC|HGNC:49377||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA||2/4|ENST00000623808.4:n.195-7830C>A|||||||||1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||1/2|ENST00000624927.3:n.416-3557C>A|||||||||1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA||2/5|ENST00000657175.1:n.147-3557C>A|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA||2/5|ENST00000657837.1:n.206-7830C>A|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA||2/4|ENST00000658846.2:n.244-3557C>A|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA||2/6|ENST00000659124.2:n.271-3557C>A|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000660797|lncRNA|||||||||||2098|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA||3/6|ENST00000661237.3:n.393+2724C>A|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA||2/7|ENST00000666741.2:n.244-3557C>A|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000667414|lncRNA||2/2|ENST00000667414.1:n.244-3557C>A|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000668541|lncRNA|||||||||||2096|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000669922|lncRNA|3/3||ENST00000669922.1:n.3173C>A||3173|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA|3/8||ENST00000670780.1:n.3172C>A||3172|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670824|lncRNA|||||||||||503|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||1/3|ENST00000685334.1:n.72-7830C>A|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA||1/3|ENST00000685566.1:n.116-7830C>A|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA||2/5|ENST00000685764.2:n.236-7830C>A|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA||3/7|ENST00000686238.1:n.393+2724C>A|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA||2/6|ENST00000688008.2:n.242-3557C>A|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA||2/5|ENST00000688309.1:n.271-7830C>A|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688420|lncRNA||1/4|ENST00000688420.1:n.62-3557C>A|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA||2/6|ENST00000691234.2:n.179-3557C>A|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA||2/6|ENST00000691316.1:n.187-3557C>A|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA||2/5|ENST00000692194.1:n.186-3557C>A|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA||1/4|ENST00000701598.1:n.110-3557C>A|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA||2/6|ENST00000701768.1:n.206-3557C>A|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA||2/5|ENST00000702098.1:n.158-3557C>A|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA||2/4|ENST00000702273.1:n.177-7830C>A|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA||2/4|ENST00000702557.1:n.184-7830C>A|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA||2/5|ENST00000702847.1:n.186-3557C>A|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918351|enhancer||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:21,2:0.13:23:0,0:12,1:12,1:12,9,1,1 -chr1 844394 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=6%2C6|1%2C1;DP=14;ECNT=1;GERMQ=53;MBQ=34,31;MFRL=0,0;MMQ=60,60;MPOS=46;POPAF=7.3;TLOD=5.41;SRC=custom;GRP=custom;CSQ=T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000415295|lncRNA|||||||||||2374|1||SNV|HGNC|HGNC:49377||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA||2/2|ENST00000416570.6:n.212-7533C>T|||||||||1||SNV|HGNC|HGNC:49377||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000441765|lncRNA|||||||||||2393|1||SNV|HGNC|HGNC:49377||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA||2/4|ENST00000445118.7:n.281-7533C>T|||||||||1||SNV|HGNC|HGNC:49377|YES|||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA||2/4|ENST00000448975.6:n.222-3260C>T|||||||||1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA||2/4|ENST00000449005.7:n.220-3260C>T|||||||||1||SNV|HGNC|HGNC:49377||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA||2/7|ENST00000608189.6:n.225-3260C>T|||||||||1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA||2/7|ENST00000609009.6:n.212-3260C>T|||||||||1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA||3/5|ENST00000609139.7:n.385+3021C>T|||||||||1||SNV|HGNC|HGNC:49377||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000610067|lncRNA||2/3|ENST00000610067.7:n.271-3260C>T|||||||||1||SNV|HGNC|HGNC:49377||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA||2/2|ENST00000622921.1:n.136-7533C>T|||||||||1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA||2/3|ENST00000623070.5:n.227-7533C>T|||||||||1||SNV|HGNC|HGNC:49377||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA||2/4|ENST00000623808.4:n.195-7533C>T|||||||||1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||1/2|ENST00000624927.3:n.416-3260C>T|||||||||1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA||2/5|ENST00000657175.1:n.147-3260C>T|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA||2/5|ENST00000657837.1:n.206-7533C>T|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA||2/4|ENST00000658846.2:n.244-3260C>T|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA||2/6|ENST00000659124.2:n.271-3260C>T|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000660797|lncRNA|||||||||||2395|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA||3/6|ENST00000661237.3:n.393+3021C>T|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA||2/7|ENST00000666741.2:n.244-3260C>T|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000667414|lncRNA||2/2|ENST00000667414.1:n.244-3260C>T|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000668541|lncRNA|||||||||||2393|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000669922|lncRNA|3/3||ENST00000669922.1:n.3470C>T||3470|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA|3/8||ENST00000670780.1:n.3469C>T||3469|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670824|lncRNA|||||||||||800|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||1/3|ENST00000685334.1:n.72-7533C>T|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA||1/3|ENST00000685566.1:n.116-7533C>T|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA||2/5|ENST00000685764.2:n.236-7533C>T|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA||3/7|ENST00000686238.1:n.393+3021C>T|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA||2/6|ENST00000688008.2:n.242-3260C>T|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA||2/5|ENST00000688309.1:n.271-7533C>T|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688420|lncRNA||1/4|ENST00000688420.1:n.62-3260C>T|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA||2/6|ENST00000691234.2:n.179-3260C>T|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA||2/6|ENST00000691316.1:n.187-3260C>T|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA||2/5|ENST00000692194.1:n.186-3260C>T|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA||1/4|ENST00000701598.1:n.110-3260C>T|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA||2/6|ENST00000701768.1:n.206-3260C>T|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA||2/5|ENST00000702098.1:n.158-3260C>T|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA||2/4|ENST00000702273.1:n.177-7533C>T|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA||2/4|ENST00000702557.1:n.184-7533C>T|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA||2/5|ENST00000702847.1:n.186-3260C>T|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918351|enhancer||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:12,2:0.222:14:0,0:6,1:6,1:6,6,1,1 -chr1 844647 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|5%2C3;DP=8;ECNT=1;GERMQ=63;MBQ=0,33;MFRL=0,0;MMQ=60,48;MPOS=31;POPAF=7.3;TLOD=29.04;SRC=custom;GRP=custom;CSQ=T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000415295|lncRNA||||||||||rs2977613|2627|1||SNV|HGNC|HGNC:49377||||1||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA||2/2|ENST00000416570.6:n.212-7280G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000441765|lncRNA||||||||||rs2977613|2646|1||SNV|HGNC|HGNC:49377||||2||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA||2/4|ENST00000445118.7:n.281-7280G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377|YES|||1||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA||2/4|ENST00000448975.6:n.222-3007G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA||2/4|ENST00000449005.7:n.220-3007G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||1||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA||2/7|ENST00000608189.6:n.225-3007G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA||2/7|ENST00000609009.6:n.212-3007G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA||3/5|ENST00000609139.7:n.385+3274G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000610067|lncRNA||2/3|ENST00000610067.7:n.271-3007G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA||2/2|ENST00000622921.1:n.136-7280G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA||2/3|ENST00000623070.5:n.227-7280G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA||2/4|ENST00000623808.4:n.195-7280G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||1/2|ENST00000624927.3:n.416-3007G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA||2/5|ENST00000657175.1:n.147-3007G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA||2/5|ENST00000657837.1:n.206-7280G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA||2/4|ENST00000658846.2:n.244-3007G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA||2/6|ENST00000659124.2:n.271-3007G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000660797|lncRNA||||||||||rs2977613|2648|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA||3/6|ENST00000661237.3:n.394-3007G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA||2/7|ENST00000666741.2:n.244-3007G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000667414|lncRNA||2/2|ENST00000667414.1:n.244-3007G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000668541|lncRNA||||||||||rs2977613|2646|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000669922|lncRNA|3/3||ENST00000669922.1:n.3723G>T||3723|||||rs2977613||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA||3/7|ENST00000670780.1:n.3573+149G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670824|lncRNA||||||||||rs2977613|1053|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||1/3|ENST00000685334.1:n.72-7280G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA||1/3|ENST00000685566.1:n.116-7280G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA||2/5|ENST00000685764.2:n.236-7280G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA||3/7|ENST00000686238.1:n.394-3007G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA||2/6|ENST00000688008.2:n.242-3007G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA||2/5|ENST00000688309.1:n.271-7280G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688420|lncRNA||1/4|ENST00000688420.1:n.62-3007G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA||2/6|ENST00000691234.2:n.179-3007G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA||2/6|ENST00000691316.1:n.187-3007G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA||2/5|ENST00000692194.1:n.186-3007G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA||1/4|ENST00000701598.1:n.110-3007G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA||2/6|ENST00000701768.1:n.206-3007G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA||2/5|ENST00000702098.1:n.158-3007G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA||2/4|ENST00000702273.1:n.177-7280G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA||2/4|ENST00000702557.1:n.184-7280G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA||2/5|ENST00000702847.1:n.186-3007G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918351|enhancer||||||||||rs2977613||||SNV||||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.857:8:0,0:0,5:0,5:0,0,5,3 -chr1 844647 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C1;DP=3;ECNT=1;GERMQ=50;MBQ=0,33;MFRL=0,0;MMQ=60,55;MPOS=90;POPAF=7.3;TLOD=10.95;SRC=custom;GRP=custom;CSQ=T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000415295|lncRNA||||||||||rs2977613|2627|1||SNV|HGNC|HGNC:49377||||1||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA||2/2|ENST00000416570.6:n.212-7280G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000441765|lncRNA||||||||||rs2977613|2646|1||SNV|HGNC|HGNC:49377||||2||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA||2/4|ENST00000445118.7:n.281-7280G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377|YES|||1||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA||2/4|ENST00000448975.6:n.222-3007G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA||2/4|ENST00000449005.7:n.220-3007G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||1||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA||2/7|ENST00000608189.6:n.225-3007G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA||2/7|ENST00000609009.6:n.212-3007G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA||3/5|ENST00000609139.7:n.385+3274G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000610067|lncRNA||2/3|ENST00000610067.7:n.271-3007G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA||2/2|ENST00000622921.1:n.136-7280G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA||2/3|ENST00000623070.5:n.227-7280G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA||2/4|ENST00000623808.4:n.195-7280G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||1/2|ENST00000624927.3:n.416-3007G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA||2/5|ENST00000657175.1:n.147-3007G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA||2/5|ENST00000657837.1:n.206-7280G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA||2/4|ENST00000658846.2:n.244-3007G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA||2/6|ENST00000659124.2:n.271-3007G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000660797|lncRNA||||||||||rs2977613|2648|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA||3/6|ENST00000661237.3:n.394-3007G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA||2/7|ENST00000666741.2:n.244-3007G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000667414|lncRNA||2/2|ENST00000667414.1:n.244-3007G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000668541|lncRNA||||||||||rs2977613|2646|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000669922|lncRNA|3/3||ENST00000669922.1:n.3723G>T||3723|||||rs2977613||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA||3/7|ENST00000670780.1:n.3573+149G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670824|lncRNA||||||||||rs2977613|1053|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||1/3|ENST00000685334.1:n.72-7280G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA||1/3|ENST00000685566.1:n.116-7280G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA||2/5|ENST00000685764.2:n.236-7280G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA||3/7|ENST00000686238.1:n.394-3007G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA||2/6|ENST00000688008.2:n.242-3007G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA||2/5|ENST00000688309.1:n.271-7280G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688420|lncRNA||1/4|ENST00000688420.1:n.62-3007G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA||2/6|ENST00000691234.2:n.179-3007G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA||2/6|ENST00000691316.1:n.187-3007G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA||2/5|ENST00000692194.1:n.186-3007G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA||1/4|ENST00000701598.1:n.110-3007G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA||2/6|ENST00000701768.1:n.206-3007G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA||2/5|ENST00000702098.1:n.158-3007G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA||2/4|ENST00000702273.1:n.177-7280G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA||2/4|ENST00000702557.1:n.184-7280G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA||2/5|ENST00000702847.1:n.186-3007G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918351|enhancer||||||||||rs2977613||||SNV||||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,0:0,2:0,2:0,0,2,1 -chr1 845405 . T A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C4;DP=8;ECNT=1;GERMQ=63;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=109;POPAF=7.3;TLOD=28.22;SRC=custom;GRP=custom;CSQ=A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000415295|lncRNA||||||||||rs2977612|3385|1||SNV|HGNC|HGNC:49377||||1||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA||2/2|ENST00000416570.6:n.212-6522T>A|||||||rs2977612||1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000441765|lncRNA||||||||||rs2977612|3404|1||SNV|HGNC|HGNC:49377||||2||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA||2/4|ENST00000445118.7:n.281-6522T>A|||||||rs2977612||1||SNV|HGNC|HGNC:49377|YES|||1||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA||2/4|ENST00000448975.6:n.222-2249T>A|||||||rs2977612||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA||2/4|ENST00000449005.7:n.220-2249T>A|||||||rs2977612||1||SNV|HGNC|HGNC:49377||||1||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA||2/7|ENST00000608189.6:n.225-2249T>A|||||||rs2977612||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA||2/7|ENST00000609009.6:n.212-2249T>A|||||||rs2977612||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA||3/5|ENST00000609139.7:n.385+4032T>A|||||||rs2977612||1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000610067|lncRNA||2/3|ENST00000610067.7:n.271-2249T>A|||||||rs2977612||1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA||2/2|ENST00000622921.1:n.136-6522T>A|||||||rs2977612||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA||2/3|ENST00000623070.5:n.227-6522T>A|||||||rs2977612||1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA||2/4|ENST00000623808.4:n.195-6522T>A|||||||rs2977612||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||1/2|ENST00000624927.3:n.416-2249T>A|||||||rs2977612||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA||2/5|ENST00000657175.1:n.147-2249T>A|||||||rs2977612||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA||2/5|ENST00000657837.1:n.206-6522T>A|||||||rs2977612||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA||2/4|ENST00000658846.2:n.244-2249T>A|||||||rs2977612||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA||2/6|ENST00000659124.2:n.271-2249T>A|||||||rs2977612||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000660797|lncRNA||||||||||rs2977612|3406|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA||3/6|ENST00000661237.3:n.394-2249T>A|||||||rs2977612||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA||2/7|ENST00000666741.2:n.244-2249T>A|||||||rs2977612||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000667414|lncRNA||2/2|ENST00000667414.1:n.244-2249T>A|||||||rs2977612||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000668541|lncRNA||||||||||rs2977612|3404|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000669922|lncRNA|3/3||ENST00000669922.1:n.4481T>A||4481|||||rs2977612||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA||3/7|ENST00000670780.1:n.3573+907T>A|||||||rs2977612||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670824|lncRNA||||||||||rs2977612|1811|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||1/3|ENST00000685334.1:n.72-6522T>A|||||||rs2977612||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA||1/3|ENST00000685566.1:n.116-6522T>A|||||||rs2977612||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA||2/5|ENST00000685764.2:n.236-6522T>A|||||||rs2977612||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA||3/7|ENST00000686238.1:n.394-2249T>A|||||||rs2977612||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA||2/6|ENST00000688008.2:n.242-2249T>A|||||||rs2977612||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA||2/5|ENST00000688309.1:n.271-6522T>A|||||||rs2977612||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688420|lncRNA||1/4|ENST00000688420.1:n.62-2249T>A|||||||rs2977612||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA||2/6|ENST00000691234.2:n.179-2249T>A|||||||rs2977612||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA||2/6|ENST00000691316.1:n.187-2249T>A|||||||rs2977612||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA||2/5|ENST00000692194.1:n.186-2249T>A|||||||rs2977612||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA||1/4|ENST00000701598.1:n.110-2249T>A|||||||rs2977612||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA||2/6|ENST00000701768.1:n.206-2249T>A|||||||rs2977612||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA||2/5|ENST00000702098.1:n.158-2249T>A|||||||rs2977612||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA||2/4|ENST00000702273.1:n.177-6522T>A|||||||rs2977612||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA||2/4|ENST00000702557.1:n.184-6522T>A|||||||rs2977612||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA||2/5|ENST00000702847.1:n.186-2249T>A|||||||rs2977612||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918351|enhancer||||||||||rs2977612||||SNV||||||||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.833:8:0,0:0,4:0,4:0,0,4,4 -chr1 846240 . A G . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=2%2C4|1%2C1;DP=8;ECNT=1;GERMQ=42;MBQ=32,31;MFRL=0,0;MMQ=22,21;MPOS=138;POPAF=7.3;TLOD=3.67;SRC=custom;GRP=custom;CSQ=G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000415295|lncRNA||||||||||rs1569754325|4220|1||SNV|HGNC|HGNC:49377||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA||2/2|ENST00000416570.6:n.212-5687A>G|||||||rs1569754325||1||SNV|HGNC|HGNC:49377||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000441765|lncRNA||||||||||rs1569754325|4239|1||SNV|HGNC|HGNC:49377||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA||2/4|ENST00000445118.7:n.281-5687A>G|||||||rs1569754325||1||SNV|HGNC|HGNC:49377|YES|||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA||2/4|ENST00000448975.6:n.222-1414A>G|||||||rs1569754325||1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA||2/4|ENST00000449005.7:n.220-1414A>G|||||||rs1569754325||1||SNV|HGNC|HGNC:49377||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA||2/7|ENST00000608189.6:n.225-1414A>G|||||||rs1569754325||1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA||2/7|ENST00000609009.6:n.212-1414A>G|||||||rs1569754325||1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA||3/5|ENST00000609139.7:n.385+4867A>G|||||||rs1569754325||1||SNV|HGNC|HGNC:49377||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000610067|lncRNA||2/3|ENST00000610067.7:n.271-1414A>G|||||||rs1569754325||1||SNV|HGNC|HGNC:49377||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA||2/2|ENST00000622921.1:n.136-5687A>G|||||||rs1569754325||1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA||2/3|ENST00000623070.5:n.227-5687A>G|||||||rs1569754325||1||SNV|HGNC|HGNC:49377||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA||2/4|ENST00000623808.4:n.195-5687A>G|||||||rs1569754325||1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||1/2|ENST00000624927.3:n.416-1414A>G|||||||rs1569754325||1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA||2/5|ENST00000657175.1:n.147-1414A>G|||||||rs1569754325||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA||2/5|ENST00000657837.1:n.206-5687A>G|||||||rs1569754325||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA||2/4|ENST00000658846.2:n.244-1414A>G|||||||rs1569754325||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA||2/6|ENST00000659124.2:n.271-1414A>G|||||||rs1569754325||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000660797|lncRNA||||||||||rs1569754325|4241|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA||3/6|ENST00000661237.3:n.394-1414A>G|||||||rs1569754325||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA||2/7|ENST00000666741.2:n.244-1414A>G|||||||rs1569754325||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000667414|lncRNA||2/2|ENST00000667414.1:n.244-1414A>G|||||||rs1569754325||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000668541|lncRNA||||||||||rs1569754325|4239|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000669922|lncRNA|3/3||ENST00000669922.1:n.5316A>G||5316|||||rs1569754325||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA||3/7|ENST00000670780.1:n.3574-1414A>G|||||||rs1569754325||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670824|lncRNA||||||||||rs1569754325|2646|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||1/3|ENST00000685334.1:n.72-5687A>G|||||||rs1569754325||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA||1/3|ENST00000685566.1:n.116-5687A>G|||||||rs1569754325||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA||2/5|ENST00000685764.2:n.236-5687A>G|||||||rs1569754325||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA||3/7|ENST00000686238.1:n.394-1414A>G|||||||rs1569754325||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA||2/6|ENST00000688008.2:n.242-1414A>G|||||||rs1569754325||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA||2/5|ENST00000688309.1:n.271-5687A>G|||||||rs1569754325||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688420|lncRNA||1/4|ENST00000688420.1:n.62-1414A>G|||||||rs1569754325||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA||2/6|ENST00000691234.2:n.179-1414A>G|||||||rs1569754325||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA||2/6|ENST00000691316.1:n.187-1414A>G|||||||rs1569754325||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA||2/5|ENST00000692194.1:n.186-1414A>G|||||||rs1569754325||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA||1/4|ENST00000701598.1:n.110-1414A>G|||||||rs1569754325||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA||2/6|ENST00000701768.1:n.206-1414A>G|||||||rs1569754325||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA||2/5|ENST00000702098.1:n.158-1414A>G|||||||rs1569754325||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA||2/4|ENST00000702273.1:n.177-5687A>G|||||||rs1569754325||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA||2/4|ENST00000702557.1:n.184-5687A>G|||||||rs1569754325||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA||2/5|ENST00000702847.1:n.186-1414A>G|||||||rs1569754325||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918351|enhancer||||||||||rs1569754325||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,2:0.286:8:2,0:2,1:4,1:2,4,1,1 -chr1 847821 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,31;MPOS=126;POPAF=7.3;TLOD=3.28;SRC=custom;GRP=custom;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA||2/2|ENST00000416570.6:n.212-4106T>C|||||||||1||SNV|HGNC|HGNC:49377||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000425657|retained_intron|||||||||||3527|1||SNV|HGNC|HGNC:49377||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA||2/4|ENST00000445118.7:n.281-4106T>C|||||||||1||SNV|HGNC|HGNC:49377|YES|||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA||3/4|ENST00000448975.6:n.374+15T>C|||||||||1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA||3/4|ENST00000449005.7:n.372+15T>C|||||||||1||SNV|HGNC|HGNC:49377||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA||3/7|ENST00000608189.6:n.377+15T>C|||||||||1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA||3/7|ENST00000609009.6:n.364+15T>C|||||||||1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA||3/5|ENST00000609139.7:n.386-4106T>C|||||||||1||SNV|HGNC|HGNC:49377||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000610067|lncRNA||3/3|ENST00000610067.7:n.423+15T>C|||||||||1||SNV|HGNC|HGNC:49377||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA||2/2|ENST00000622921.1:n.136-4106T>C|||||||||1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA||2/3|ENST00000623070.5:n.227-4106T>C|||||||||1||SNV|HGNC|HGNC:49377||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA||2/4|ENST00000623808.4:n.195-4106T>C|||||||||1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||2/2|ENST00000624927.3:n.568+15T>C|||||||||1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA||3/5|ENST00000657175.1:n.299+15T>C|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA||2/5|ENST00000657837.1:n.206-4106T>C|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA||3/4|ENST00000658846.2:n.396+15T>C|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA||3/6|ENST00000659124.2:n.423+15T>C|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA||4/6|ENST00000661237.3:n.546+15T>C|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA||3/7|ENST00000666741.2:n.396+15T>C|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000667414|lncRNA|3/3||ENST00000667414.1:n.411T>C||411|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000669922|lncRNA|||||||||||1456|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA||4/7|ENST00000670780.1:n.3726+15T>C|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670824|lncRNA|||||||||||4227|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||1/3|ENST00000685334.1:n.72-4106T>C|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA||1/3|ENST00000685566.1:n.116-4106T>C|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA||2/5|ENST00000685764.2:n.236-4106T>C|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA||4/7|ENST00000686238.1:n.546+15T>C|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA||3/6|ENST00000688008.2:n.394+15T>C|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA||2/5|ENST00000688309.1:n.271-4106T>C|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688420|lncRNA||2/4|ENST00000688420.1:n.214+15T>C|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA||3/6|ENST00000691234.2:n.331+15T>C|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA||3/6|ENST00000691316.1:n.339+15T>C|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA||3/5|ENST00000692194.1:n.338+15T>C|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA||2/4|ENST00000701598.1:n.262+15T>C|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA||3/6|ENST00000701768.1:n.358+15T>C|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA||3/5|ENST00000702098.1:n.310+15T>C|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA||2/4|ENST00000702273.1:n.177-4106T>C|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA||2/4|ENST00000702557.1:n.184-4106T>C|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA||3/5|ENST00000702847.1:n.338+15T>C|||||||||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 849670 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C2;DP=5;ECNT=1;GERMQ=55;MBQ=0,33;MFRL=0,0;MMQ=60,44;MPOS=63;POPAF=7.3;TLOD=17.55;SRC=custom;GRP=custom;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA||2/2|ENST00000416570.6:n.212-2257G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000425657|retained_intron||||||||||rs2905062|1678|1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA||2/4|ENST00000445118.7:n.281-2257G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377|YES|||1||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA||3/4|ENST00000448975.6:n.375-511G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA||3/4|ENST00000449005.7:n.372+1864G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||1||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA||4/7|ENST00000608189.6:n.496+68G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA||4/7|ENST00000609009.6:n.483+68G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA||3/5|ENST00000609139.7:n.386-2257G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000610067|lncRNA|4/4||ENST00000610067.7:n.610G>A||610|||||rs2905062||1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA||2/2|ENST00000622921.1:n.136-2257G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA||2/3|ENST00000623070.5:n.227-2257G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA||2/4|ENST00000623808.4:n.195-2257G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||||||||||rs2905062|78|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA||3/5|ENST00000657175.1:n.299+1864G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA||2/5|ENST00000657837.1:n.206-2257G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA||3/4|ENST00000658846.2:n.396+1864G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA||3/6|ENST00000659124.2:n.423+1864G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA||4/6|ENST00000661237.3:n.546+1864G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA||4/7|ENST00000666741.2:n.515+68G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000667414|lncRNA||||||||||rs2905062|508|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000669922|lncRNA||||||||||rs2905062|3305|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA||4/7|ENST00000670780.1:n.3726+1864G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||1/3|ENST00000685334.1:n.72-2257G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA||1/3|ENST00000685566.1:n.116-2257G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA||2/5|ENST00000685764.2:n.236-2257G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA||5/7|ENST00000686238.1:n.665+68G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA||3/6|ENST00000688008.2:n.395-508G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA||2/5|ENST00000688309.1:n.271-2257G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688420|lncRNA||2/4|ENST00000688420.1:n.214+1864G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA||3/6|ENST00000691234.2:n.331+1864G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA||3/6|ENST00000691316.1:n.339+1864G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA||3/5|ENST00000692194.1:n.338+1864G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA||2/4|ENST00000701598.1:n.262+1864G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA||4/6|ENST00000701768.1:n.477+68G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA||3/5|ENST00000702098.1:n.310+1864G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA||2/4|ENST00000702273.1:n.177-2257G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA||2/4|ENST00000702557.1:n.184-2257G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA||3/5|ENST00000702847.1:n.338+1864G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.8:5:0,0:0,3:0,3:0,0,3,2 -chr1 849670 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,34;MFRL=0,0;MMQ=60,54;MPOS=90;POPAF=7.3;TLOD=7.35;SRC=custom;GRP=custom;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA||2/2|ENST00000416570.6:n.212-2257G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000425657|retained_intron||||||||||rs2905062|1678|1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA||2/4|ENST00000445118.7:n.281-2257G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377|YES|||1||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA||3/4|ENST00000448975.6:n.375-511G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA||3/4|ENST00000449005.7:n.372+1864G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||1||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA||4/7|ENST00000608189.6:n.496+68G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA||4/7|ENST00000609009.6:n.483+68G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA||3/5|ENST00000609139.7:n.386-2257G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000610067|lncRNA|4/4||ENST00000610067.7:n.610G>A||610|||||rs2905062||1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA||2/2|ENST00000622921.1:n.136-2257G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA||2/3|ENST00000623070.5:n.227-2257G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA||2/4|ENST00000623808.4:n.195-2257G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||||||||||rs2905062|78|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA||3/5|ENST00000657175.1:n.299+1864G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA||2/5|ENST00000657837.1:n.206-2257G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA||3/4|ENST00000658846.2:n.396+1864G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA||3/6|ENST00000659124.2:n.423+1864G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA||4/6|ENST00000661237.3:n.546+1864G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA||4/7|ENST00000666741.2:n.515+68G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000667414|lncRNA||||||||||rs2905062|508|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000669922|lncRNA||||||||||rs2905062|3305|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA||4/7|ENST00000670780.1:n.3726+1864G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||1/3|ENST00000685334.1:n.72-2257G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA||1/3|ENST00000685566.1:n.116-2257G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA||2/5|ENST00000685764.2:n.236-2257G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA||5/7|ENST00000686238.1:n.665+68G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA||3/6|ENST00000688008.2:n.395-508G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA||2/5|ENST00000688309.1:n.271-2257G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688420|lncRNA||2/4|ENST00000688420.1:n.214+1864G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA||3/6|ENST00000691234.2:n.331+1864G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA||3/6|ENST00000691316.1:n.339+1864G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA||3/5|ENST00000692194.1:n.338+1864G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA||2/4|ENST00000701598.1:n.262+1864G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA||4/6|ENST00000701768.1:n.477+68G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA||3/5|ENST00000702098.1:n.310+1864G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA||2/4|ENST00000702273.1:n.177-2257G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA||2/4|ENST00000702557.1:n.184-2257G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA||3/5|ENST00000702847.1:n.338+1864G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 850142 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=25;POPAF=7.3;TLOD=3.48;SRC=custom;GRP=custom;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA||2/2|ENST00000416570.6:n.212-1785T>C|||||||rs61768200||1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.0028|0|0.0058|0|0.0099|0||||||||||0.005482|0.0008686|0.01864|0.007466|0.01671|0.0003852|0.002074|0.01899|0.007999|0.00956|0.003104|0.01899|gnomADg_MID|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000425657|retained_intron||||||||||rs61768200|1206|1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.0028|0|0.0058|0|0.0099|0||||||||||0.005482|0.0008686|0.01864|0.007466|0.01671|0.0003852|0.002074|0.01899|0.007999|0.00956|0.003104|0.01899|gnomADg_MID|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA||2/4|ENST00000445118.7:n.281-1785T>C|||||||rs61768200||1||SNV|HGNC|HGNC:49377|YES|||1||||||||||||||0.0028|0|0.0058|0|0.0099|0||||||||||0.005482|0.0008686|0.01864|0.007466|0.01671|0.0003852|0.002074|0.01899|0.007999|0.00956|0.003104|0.01899|gnomADg_MID|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA||3/4|ENST00000448975.6:n.375-39T>C|||||||rs61768200||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.0028|0|0.0058|0|0.0099|0||||||||||0.005482|0.0008686|0.01864|0.007466|0.01671|0.0003852|0.002074|0.01899|0.007999|0.00956|0.003104|0.01899|gnomADg_MID|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA||3/4|ENST00000449005.7:n.373-1785T>C|||||||rs61768200||1||SNV|HGNC|HGNC:49377||||1||||||||||||||0.0028|0|0.0058|0|0.0099|0||||||||||0.005482|0.0008686|0.01864|0.007466|0.01671|0.0003852|0.002074|0.01899|0.007999|0.00956|0.003104|0.01899|gnomADg_MID|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA||4/7|ENST00000608189.6:n.497-39T>C|||||||rs61768200||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.0028|0|0.0058|0|0.0099|0||||||||||0.005482|0.0008686|0.01864|0.007466|0.01671|0.0003852|0.002074|0.01899|0.007999|0.00956|0.003104|0.01899|gnomADg_MID|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA||4/7|ENST00000609009.6:n.484-36T>C|||||||rs61768200||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.0028|0|0.0058|0|0.0099|0||||||||||0.005482|0.0008686|0.01864|0.007466|0.01671|0.0003852|0.002074|0.01899|0.007999|0.00956|0.003104|0.01899|gnomADg_MID|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA||3/5|ENST00000609139.7:n.386-1785T>C|||||||rs61768200||1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.0028|0|0.0058|0|0.0099|0||||||||||0.005482|0.0008686|0.01864|0.007466|0.01671|0.0003852|0.002074|0.01899|0.007999|0.00956|0.003104|0.01899|gnomADg_MID|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000610067|lncRNA|4/4||ENST00000610067.7:n.1082T>C||1082|||||rs61768200||1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.0028|0|0.0058|0|0.0099|0||||||||||0.005482|0.0008686|0.01864|0.007466|0.01671|0.0003852|0.002074|0.01899|0.007999|0.00956|0.003104|0.01899|gnomADg_MID|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA||2/2|ENST00000622921.1:n.136-1785T>C|||||||rs61768200||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.0028|0|0.0058|0|0.0099|0||||||||||0.005482|0.0008686|0.01864|0.007466|0.01671|0.0003852|0.002074|0.01899|0.007999|0.00956|0.003104|0.01899|gnomADg_MID|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA||2/3|ENST00000623070.5:n.227-1785T>C|||||||rs61768200||1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.0028|0|0.0058|0|0.0099|0||||||||||0.005482|0.0008686|0.01864|0.007466|0.01671|0.0003852|0.002074|0.01899|0.007999|0.00956|0.003104|0.01899|gnomADg_MID|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA||2/4|ENST00000623808.4:n.195-1785T>C|||||||rs61768200||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.0028|0|0.0058|0|0.0099|0||||||||||0.005482|0.0008686|0.01864|0.007466|0.01671|0.0003852|0.002074|0.01899|0.007999|0.00956|0.003104|0.01899|gnomADg_MID|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||||||||||rs61768200|550|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.0028|0|0.0058|0|0.0099|0||||||||||0.005482|0.0008686|0.01864|0.007466|0.01671|0.0003852|0.002074|0.01899|0.007999|0.00956|0.003104|0.01899|gnomADg_MID|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA||3/5|ENST00000657175.1:n.300-1785T>C|||||||rs61768200||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.0028|0|0.0058|0|0.0099|0||||||||||0.005482|0.0008686|0.01864|0.007466|0.01671|0.0003852|0.002074|0.01899|0.007999|0.00956|0.003104|0.01899|gnomADg_MID|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA||2/5|ENST00000657837.1:n.206-1785T>C|||||||rs61768200||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.0028|0|0.0058|0|0.0099|0||||||||||0.005482|0.0008686|0.01864|0.007466|0.01671|0.0003852|0.002074|0.01899|0.007999|0.00956|0.003104|0.01899|gnomADg_MID|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA||3/4|ENST00000658846.2:n.397-1785T>C|||||||rs61768200||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.0028|0|0.0058|0|0.0099|0||||||||||0.005482|0.0008686|0.01864|0.007466|0.01671|0.0003852|0.002074|0.01899|0.007999|0.00956|0.003104|0.01899|gnomADg_MID|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA||3/6|ENST00000659124.2:n.424-1785T>C|||||||rs61768200||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.0028|0|0.0058|0|0.0099|0||||||||||0.005482|0.0008686|0.01864|0.007466|0.01671|0.0003852|0.002074|0.01899|0.007999|0.00956|0.003104|0.01899|gnomADg_MID|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA||4/6|ENST00000661237.3:n.547-1785T>C|||||||rs61768200||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.0028|0|0.0058|0|0.0099|0||||||||||0.005482|0.0008686|0.01864|0.007466|0.01671|0.0003852|0.002074|0.01899|0.007999|0.00956|0.003104|0.01899|gnomADg_MID|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA||4/7|ENST00000666741.2:n.515+540T>C|||||||rs61768200||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.0028|0|0.0058|0|0.0099|0||||||||||0.005482|0.0008686|0.01864|0.007466|0.01671|0.0003852|0.002074|0.01899|0.007999|0.00956|0.003104|0.01899|gnomADg_MID|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000667414|lncRNA||||||||||rs61768200|980|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.0028|0|0.0058|0|0.0099|0||||||||||0.005482|0.0008686|0.01864|0.007466|0.01671|0.0003852|0.002074|0.01899|0.007999|0.00956|0.003104|0.01899|gnomADg_MID|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000669922|lncRNA||||||||||rs61768200|3777|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.0028|0|0.0058|0|0.0099|0||||||||||0.005482|0.0008686|0.01864|0.007466|0.01671|0.0003852|0.002074|0.01899|0.007999|0.00956|0.003104|0.01899|gnomADg_MID|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA||4/7|ENST00000670780.1:n.3727-1785T>C|||||||rs61768200||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.0028|0|0.0058|0|0.0099|0||||||||||0.005482|0.0008686|0.01864|0.007466|0.01671|0.0003852|0.002074|0.01899|0.007999|0.00956|0.003104|0.01899|gnomADg_MID|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||1/3|ENST00000685334.1:n.72-1785T>C|||||||rs61768200||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.0028|0|0.0058|0|0.0099|0||||||||||0.005482|0.0008686|0.01864|0.007466|0.01671|0.0003852|0.002074|0.01899|0.007999|0.00956|0.003104|0.01899|gnomADg_MID|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA||1/3|ENST00000685566.1:n.116-1785T>C|||||||rs61768200||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.0028|0|0.0058|0|0.0099|0||||||||||0.005482|0.0008686|0.01864|0.007466|0.01671|0.0003852|0.002074|0.01899|0.007999|0.00956|0.003104|0.01899|gnomADg_MID|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA||2/5|ENST00000685764.2:n.236-1785T>C|||||||rs61768200||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.0028|0|0.0058|0|0.0099|0||||||||||0.005482|0.0008686|0.01864|0.007466|0.01671|0.0003852|0.002074|0.01899|0.007999|0.00956|0.003104|0.01899|gnomADg_MID|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA||5/7|ENST00000686238.1:n.665+540T>C|||||||rs61768200||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.0028|0|0.0058|0|0.0099|0||||||||||0.005482|0.0008686|0.01864|0.007466|0.01671|0.0003852|0.002074|0.01899|0.007999|0.00956|0.003104|0.01899|gnomADg_MID|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA||3/6|ENST00000688008.2:n.395-36T>C|||||||rs61768200||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.0028|0|0.0058|0|0.0099|0||||||||||0.005482|0.0008686|0.01864|0.007466|0.01671|0.0003852|0.002074|0.01899|0.007999|0.00956|0.003104|0.01899|gnomADg_MID|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA||2/5|ENST00000688309.1:n.271-1785T>C|||||||rs61768200||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.0028|0|0.0058|0|0.0099|0||||||||||0.005482|0.0008686|0.01864|0.007466|0.01671|0.0003852|0.002074|0.01899|0.007999|0.00956|0.003104|0.01899|gnomADg_MID|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688420|lncRNA||2/4|ENST00000688420.1:n.215-1785T>C|||||||rs61768200||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.0028|0|0.0058|0|0.0099|0||||||||||0.005482|0.0008686|0.01864|0.007466|0.01671|0.0003852|0.002074|0.01899|0.007999|0.00956|0.003104|0.01899|gnomADg_MID|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA||3/6|ENST00000691234.2:n.332-1785T>C|||||||rs61768200||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.0028|0|0.0058|0|0.0099|0||||||||||0.005482|0.0008686|0.01864|0.007466|0.01671|0.0003852|0.002074|0.01899|0.007999|0.00956|0.003104|0.01899|gnomADg_MID|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA||3/6|ENST00000691316.1:n.340-1785T>C|||||||rs61768200||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.0028|0|0.0058|0|0.0099|0||||||||||0.005482|0.0008686|0.01864|0.007466|0.01671|0.0003852|0.002074|0.01899|0.007999|0.00956|0.003104|0.01899|gnomADg_MID|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA||3/5|ENST00000692194.1:n.339-1785T>C|||||||rs61768200||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.0028|0|0.0058|0|0.0099|0||||||||||0.005482|0.0008686|0.01864|0.007466|0.01671|0.0003852|0.002074|0.01899|0.007999|0.00956|0.003104|0.01899|gnomADg_MID|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA||2/4|ENST00000701598.1:n.263-1785T>C|||||||rs61768200||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.0028|0|0.0058|0|0.0099|0||||||||||0.005482|0.0008686|0.01864|0.007466|0.01671|0.0003852|0.002074|0.01899|0.007999|0.00956|0.003104|0.01899|gnomADg_MID|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA||4/6|ENST00000701768.1:n.477+540T>C|||||||rs61768200||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.0028|0|0.0058|0|0.0099|0||||||||||0.005482|0.0008686|0.01864|0.007466|0.01671|0.0003852|0.002074|0.01899|0.007999|0.00956|0.003104|0.01899|gnomADg_MID|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA||3/5|ENST00000702098.1:n.311-1785T>C|||||||rs61768200||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.0028|0|0.0058|0|0.0099|0||||||||||0.005482|0.0008686|0.01864|0.007466|0.01671|0.0003852|0.002074|0.01899|0.007999|0.00956|0.003104|0.01899|gnomADg_MID|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA||2/4|ENST00000702273.1:n.177-1785T>C|||||||rs61768200||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.0028|0|0.0058|0|0.0099|0||||||||||0.005482|0.0008686|0.01864|0.007466|0.01671|0.0003852|0.002074|0.01899|0.007999|0.00956|0.003104|0.01899|gnomADg_MID|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA||2/4|ENST00000702557.1:n.184-1785T>C|||||||rs61768200||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.0028|0|0.0058|0|0.0099|0||||||||||0.005482|0.0008686|0.01864|0.007466|0.01671|0.0003852|0.002074|0.01899|0.007999|0.00956|0.003104|0.01899|gnomADg_MID|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA||3/5|ENST00000702847.1:n.339-1785T>C|||||||rs61768200||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.0028|0|0.0058|0|0.0099|0||||||||||0.005482|0.0008686|0.01864|0.007466|0.01671|0.0003852|0.002074|0.01899|0.007999|0.00956|0.003104|0.01899|gnomADg_MID|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000249793|CTCF_binding_site||||||||||rs61768200||||SNV||||||||||||||||||||0.0028|0|0.0058|0|0.0099|0||||||||||0.005482|0.0008686|0.01864|0.007466|0.01671|0.0003852|0.002074|0.01899|0.007999|0.00956|0.003104|0.01899|gnomADg_MID||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 851882 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=1;GERMQ=52;MBQ=0,32;MFRL=0,0;MMQ=60,44;MPOS=26;POPAF=7.3;TLOD=13.4;SRC=custom;GRP=custom;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA||2/2|ENST00000416570.6:n.212-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000425657|retained_intron|1/2||ENST00000425657.1:n.535C>G||535|||||rs2905056||1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA||2/4|ENST00000445118.7:n.281-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377|YES|||1||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA||4/4|ENST00000448975.6:n.546-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA||3/4|ENST00000449005.7:n.373-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||1||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA||5/7|ENST00000608189.6:n.668-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA||5/7|ENST00000609009.6:n.658-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA||3/5|ENST00000609139.7:n.386-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000610067|lncRNA||||||||||rs2905056|757|1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA||2/2|ENST00000622921.1:n.136-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA||2/3|ENST00000623070.5:n.227-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA||2/4|ENST00000623808.4:n.195-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||||||||||rs2905056|2290|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA||3/5|ENST00000657175.1:n.300-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA||2/5|ENST00000657837.1:n.206-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA||3/4|ENST00000658846.2:n.397-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA||3/6|ENST00000659124.2:n.424-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA||4/6|ENST00000661237.3:n.547-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA||4/7|ENST00000666741.2:n.516-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000667414|lncRNA||||||||||rs2905056|2720|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA||4/7|ENST00000670780.1:n.3727-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||1/3|ENST00000685334.1:n.72-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA||1/3|ENST00000685566.1:n.116-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA||2/5|ENST00000685764.2:n.236-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA||5/7|ENST00000686238.1:n.666-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA||4/6|ENST00000688008.2:n.569-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA||2/5|ENST00000688309.1:n.271-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688420|lncRNA||2/4|ENST00000688420.1:n.215-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA||3/6|ENST00000691234.2:n.332-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA||3/6|ENST00000691316.1:n.340-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA||3/5|ENST00000692194.1:n.339-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA||2/4|ENST00000701598.1:n.263-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA||4/6|ENST00000701768.1:n.478-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA||3/5|ENST00000702098.1:n.311-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA||2/4|ENST00000702273.1:n.177-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA||2/4|ENST00000702557.1:n.184-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA||3/5|ENST00000702847.1:n.339-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 851882 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,34;MFRL=0,0;MMQ=60,47;MPOS=9;POPAF=7.3;TLOD=7.35;SRC=custom;GRP=custom;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA||2/2|ENST00000416570.6:n.212-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000425657|retained_intron|1/2||ENST00000425657.1:n.535C>G||535|||||rs2905056||1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA||2/4|ENST00000445118.7:n.281-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377|YES|||1||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA||4/4|ENST00000448975.6:n.546-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA||3/4|ENST00000449005.7:n.373-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||1||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA||5/7|ENST00000608189.6:n.668-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA||5/7|ENST00000609009.6:n.658-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA||3/5|ENST00000609139.7:n.386-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000610067|lncRNA||||||||||rs2905056|757|1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA||2/2|ENST00000622921.1:n.136-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA||2/3|ENST00000623070.5:n.227-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA||2/4|ENST00000623808.4:n.195-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||||||||||rs2905056|2290|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA||3/5|ENST00000657175.1:n.300-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA||2/5|ENST00000657837.1:n.206-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA||3/4|ENST00000658846.2:n.397-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA||3/6|ENST00000659124.2:n.424-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA||4/6|ENST00000661237.3:n.547-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA||4/7|ENST00000666741.2:n.516-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000667414|lncRNA||||||||||rs2905056|2720|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA||4/7|ENST00000670780.1:n.3727-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||1/3|ENST00000685334.1:n.72-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA||1/3|ENST00000685566.1:n.116-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA||2/5|ENST00000685764.2:n.236-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA||5/7|ENST00000686238.1:n.666-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA||4/6|ENST00000688008.2:n.569-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA||2/5|ENST00000688309.1:n.271-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688420|lncRNA||2/4|ENST00000688420.1:n.215-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA||3/6|ENST00000691234.2:n.332-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA||3/6|ENST00000691316.1:n.340-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA||3/5|ENST00000692194.1:n.339-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA||2/4|ENST00000701598.1:n.263-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA||4/6|ENST00000701768.1:n.478-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA||3/5|ENST00000702098.1:n.311-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA||2/4|ENST00000702273.1:n.177-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA||2/4|ENST00000702557.1:n.184-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA||3/5|ENST00000702847.1:n.339-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 852019 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|12%2C9;DP=24;ECNT=1;GERMQ=71;MBQ=31,33;MFRL=0,0;MMQ=60,44;MPOS=83;POPAF=7.3;TLOD=73.51;SRC=custom;GRP=custom;CSQ=T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA|3/3||ENST00000416570.6:n.304G>T||304|||||rs2905055||1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000425657|retained_intron|1/2||ENST00000425657.1:n.672G>T||672|||||rs2905055||1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA|3/5||ENST00000445118.7:n.373G>T||373|||||rs2905055||1||SNV|HGNC|HGNC:49377|YES|||1||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA||||||||||rs2905055|5|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA|4/5||ENST00000449005.7:n.465G>T||465|||||rs2905055||1||SNV|HGNC|HGNC:49377||||1||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA|6/8||ENST00000608189.6:n.760G>T||760|||||rs2905055||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA|6/8||ENST00000609009.6:n.750G>T||750|||||rs2905055||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA|4/6||ENST00000609139.7:n.478G>T||478|||||rs2905055||1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000610067|lncRNA||||||||||rs2905055|894|1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA|3/3||ENST00000622921.1:n.228G>T||228|||||rs2905055||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA|3/4||ENST00000623070.5:n.319G>T||319|||||rs2905055||1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA|3/5||ENST00000623808.4:n.287G>T||287|||||rs2905055||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||||||||||rs2905055|2427|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA|4/6||ENST00000657175.1:n.392G>T||392|||||rs2905055||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|splice_donor_5th_base_variant&intron_variant&non_coding_transcript_variant|LOW|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA||3/5|ENST00000657837.1:n.293+5G>T|||||||rs2905055||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA|4/5||ENST00000658846.2:n.489G>T||489|||||rs2905055||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA|4/7||ENST00000659124.2:n.516G>T||516|||||rs2905055||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA|5/7||ENST00000661237.3:n.639G>T||639|||||rs2905055||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA|5/8||ENST00000666741.2:n.608G>T||608|||||rs2905055||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000667414|lncRNA||||||||||rs2905055|2857|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA|5/8||ENST00000670780.1:n.3819G>T||3819|||||rs2905055||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA|2/4||ENST00000685334.1:n.164G>T||164|||||rs2905055||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA|2/4||ENST00000685566.1:n.208G>T||208|||||rs2905055||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA|3/6||ENST00000685764.2:n.328G>T||328|||||rs2905055||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA|6/8||ENST00000686238.1:n.758G>T||758|||||rs2905055||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA|5/7||ENST00000688008.2:n.661G>T||661|||||rs2905055||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA|3/6||ENST00000688309.1:n.363G>T||363|||||rs2905055||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688420|lncRNA|3/5||ENST00000688420.1:n.307G>T||307|||||rs2905055||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA|4/7||ENST00000691234.2:n.424G>T||424|||||rs2905055||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA|4/7||ENST00000691316.1:n.432G>T||432|||||rs2905055||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA|4/6||ENST00000692194.1:n.431G>T||431|||||rs2905055||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA|3/5||ENST00000701598.1:n.355G>T||355|||||rs2905055||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA|5/7||ENST00000701768.1:n.570G>T||570|||||rs2905055||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA|4/6||ENST00000702098.1:n.403G>T||403|||||rs2905055||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA|3/5||ENST00000702273.1:n.269G>T||269|||||rs2905055||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA|3/5||ENST00000702557.1:n.276G>T||276|||||rs2905055||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA|4/6||ENST00000702847.1:n.431G>T||431|||||rs2905055||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918352|enhancer||||||||||rs2905055||||SNV||||||||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,21:0.896:23:0,4:1,12:1,16:1,1,12,9 -chr1 852019 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|10%2C9;DP=19;ECNT=1;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,42;MPOS=76;POPAF=7.3;TLOD=64.17;SRC=custom;GRP=custom;CSQ=T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA|3/3||ENST00000416570.6:n.304G>T||304|||||rs2905055||1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000425657|retained_intron|1/2||ENST00000425657.1:n.672G>T||672|||||rs2905055||1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA|3/5||ENST00000445118.7:n.373G>T||373|||||rs2905055||1||SNV|HGNC|HGNC:49377|YES|||1||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA||||||||||rs2905055|5|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA|4/5||ENST00000449005.7:n.465G>T||465|||||rs2905055||1||SNV|HGNC|HGNC:49377||||1||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA|6/8||ENST00000608189.6:n.760G>T||760|||||rs2905055||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA|6/8||ENST00000609009.6:n.750G>T||750|||||rs2905055||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA|4/6||ENST00000609139.7:n.478G>T||478|||||rs2905055||1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000610067|lncRNA||||||||||rs2905055|894|1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA|3/3||ENST00000622921.1:n.228G>T||228|||||rs2905055||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA|3/4||ENST00000623070.5:n.319G>T||319|||||rs2905055||1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA|3/5||ENST00000623808.4:n.287G>T||287|||||rs2905055||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||||||||||rs2905055|2427|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA|4/6||ENST00000657175.1:n.392G>T||392|||||rs2905055||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|splice_donor_5th_base_variant&intron_variant&non_coding_transcript_variant|LOW|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA||3/5|ENST00000657837.1:n.293+5G>T|||||||rs2905055||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA|4/5||ENST00000658846.2:n.489G>T||489|||||rs2905055||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA|4/7||ENST00000659124.2:n.516G>T||516|||||rs2905055||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA|5/7||ENST00000661237.3:n.639G>T||639|||||rs2905055||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA|5/8||ENST00000666741.2:n.608G>T||608|||||rs2905055||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000667414|lncRNA||||||||||rs2905055|2857|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA|5/8||ENST00000670780.1:n.3819G>T||3819|||||rs2905055||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA|2/4||ENST00000685334.1:n.164G>T||164|||||rs2905055||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA|2/4||ENST00000685566.1:n.208G>T||208|||||rs2905055||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA|3/6||ENST00000685764.2:n.328G>T||328|||||rs2905055||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA|6/8||ENST00000686238.1:n.758G>T||758|||||rs2905055||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA|5/7||ENST00000688008.2:n.661G>T||661|||||rs2905055||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA|3/6||ENST00000688309.1:n.363G>T||363|||||rs2905055||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688420|lncRNA|3/5||ENST00000688420.1:n.307G>T||307|||||rs2905055||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA|4/7||ENST00000691234.2:n.424G>T||424|||||rs2905055||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA|4/7||ENST00000691316.1:n.432G>T||432|||||rs2905055||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA|4/6||ENST00000692194.1:n.431G>T||431|||||rs2905055||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA|3/5||ENST00000701598.1:n.355G>T||355|||||rs2905055||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA|5/7||ENST00000701768.1:n.570G>T||570|||||rs2905055||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA|4/6||ENST00000702098.1:n.403G>T||403|||||rs2905055||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA|3/5||ENST00000702273.1:n.269G>T||269|||||rs2905055||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA|3/5||ENST00000702557.1:n.276G>T||276|||||rs2905055||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA|4/6||ENST00000702847.1:n.431G>T||431|||||rs2905055||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918352|enhancer||||||||||rs2905055||||SNV||||||||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,19:0.923:19:0,1:0,10:0,11:0,0,10,9 -chr1 852305 . G T . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,32;MFRL=0,0;MMQ=60,21;MPOS=66;POPAF=7.3;TLOD=4.85;SRC=custom;GRP=custom;CSQ=T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA|3/3||ENST00000416570.6:n.590G>T||590|||||rs2905054||1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.6222|0.1664|0.7406|0.7341|0.8718|0.7822||||||||||0.6538|0.2535|0.7578|0.7105|0.8046|0.7233|0.7973|0.7628|0.8394|0.6978|0.7713|0.8718|EUR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000425657|retained_intron||1/1|ENST00000425657.1:n.763+195G>T|||||||rs2905054||1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.6222|0.1664|0.7406|0.7341|0.8718|0.7822||||||||||0.6538|0.2535|0.7578|0.7105|0.8046|0.7233|0.7973|0.7628|0.8394|0.6978|0.7713|0.8718|EUR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA||3/4|ENST00000445118.7:n.464+195G>T|||||||rs2905054||1||SNV|HGNC|HGNC:49377|YES|||1||||||||||||||0.6222|0.1664|0.7406|0.7341|0.8718|0.7822||||||||||0.6538|0.2535|0.7578|0.7105|0.8046|0.7233|0.7973|0.7628|0.8394|0.6978|0.7713|0.8718|EUR|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA||||||||||rs2905054|291|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.6222|0.1664|0.7406|0.7341|0.8718|0.7822||||||||||0.6538|0.2535|0.7578|0.7105|0.8046|0.7233|0.7973|0.7628|0.8394|0.6978|0.7713|0.8718|EUR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA||4/4|ENST00000449005.7:n.556+195G>T|||||||rs2905054||1||SNV|HGNC|HGNC:49377||||1||||||||||||||0.6222|0.1664|0.7406|0.7341|0.8718|0.7822||||||||||0.6538|0.2535|0.7578|0.7105|0.8046|0.7233|0.7973|0.7628|0.8394|0.6978|0.7713|0.8718|EUR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA||6/7|ENST00000608189.6:n.851+195G>T|||||||rs2905054||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.6222|0.1664|0.7406|0.7341|0.8718|0.7822||||||||||0.6538|0.2535|0.7578|0.7105|0.8046|0.7233|0.7973|0.7628|0.8394|0.6978|0.7713|0.8718|EUR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA||6/7|ENST00000609009.6:n.841+195G>T|||||||rs2905054||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.6222|0.1664|0.7406|0.7341|0.8718|0.7822||||||||||0.6538|0.2535|0.7578|0.7105|0.8046|0.7233|0.7973|0.7628|0.8394|0.6978|0.7713|0.8718|EUR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA||4/5|ENST00000609139.7:n.569+195G>T|||||||rs2905054||1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.6222|0.1664|0.7406|0.7341|0.8718|0.7822||||||||||0.6538|0.2535|0.7578|0.7105|0.8046|0.7233|0.7973|0.7628|0.8394|0.6978|0.7713|0.8718|EUR|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000610067|lncRNA||||||||||rs2905054|1180|1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.6222|0.1664|0.7406|0.7341|0.8718|0.7822||||||||||0.6538|0.2535|0.7578|0.7105|0.8046|0.7233|0.7973|0.7628|0.8394|0.6978|0.7713|0.8718|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA|3/3||ENST00000622921.1:n.514G>T||514|||||rs2905054||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.6222|0.1664|0.7406|0.7341|0.8718|0.7822||||||||||0.6538|0.2535|0.7578|0.7105|0.8046|0.7233|0.7973|0.7628|0.8394|0.6978|0.7713|0.8718|EUR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA||3/3|ENST00000623070.5:n.410+195G>T|||||||rs2905054||1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.6222|0.1664|0.7406|0.7341|0.8718|0.7822||||||||||0.6538|0.2535|0.7578|0.7105|0.8046|0.7233|0.7973|0.7628|0.8394|0.6978|0.7713|0.8718|EUR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA||3/4|ENST00000623808.4:n.501+72G>T|||||||rs2905054||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.6222|0.1664|0.7406|0.7341|0.8718|0.7822||||||||||0.6538|0.2535|0.7578|0.7105|0.8046|0.7233|0.7973|0.7628|0.8394|0.6978|0.7713|0.8718|EUR|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||||||||||rs2905054|2713|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.6222|0.1664|0.7406|0.7341|0.8718|0.7822||||||||||0.6538|0.2535|0.7578|0.7105|0.8046|0.7233|0.7973|0.7628|0.8394|0.6978|0.7713|0.8718|EUR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA||4/5|ENST00000657175.1:n.467+211G>T|||||||rs2905054||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6222|0.1664|0.7406|0.7341|0.8718|0.7822||||||||||0.6538|0.2535|0.7578|0.7105|0.8046|0.7233|0.7973|0.7628|0.8394|0.6978|0.7713|0.8718|EUR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA||3/5|ENST00000657837.1:n.293+291G>T|||||||rs2905054||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6222|0.1664|0.7406|0.7341|0.8718|0.7822||||||||||0.6538|0.2535|0.7578|0.7105|0.8046|0.7233|0.7973|0.7628|0.8394|0.6978|0.7713|0.8718|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA|4/5||ENST00000658846.2:n.775G>T||775|||||rs2905054||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6222|0.1664|0.7406|0.7341|0.8718|0.7822||||||||||0.6538|0.2535|0.7578|0.7105|0.8046|0.7233|0.7973|0.7628|0.8394|0.6978|0.7713|0.8718|EUR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA||4/6|ENST00000659124.2:n.607+195G>T|||||||rs2905054||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6222|0.1664|0.7406|0.7341|0.8718|0.7822||||||||||0.6538|0.2535|0.7578|0.7105|0.8046|0.7233|0.7973|0.7628|0.8394|0.6978|0.7713|0.8718|EUR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA||5/6|ENST00000661237.3:n.730+195G>T|||||||rs2905054||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6222|0.1664|0.7406|0.7341|0.8718|0.7822||||||||||0.6538|0.2535|0.7578|0.7105|0.8046|0.7233|0.7973|0.7628|0.8394|0.6978|0.7713|0.8718|EUR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA||5/7|ENST00000666741.2:n.699+195G>T|||||||rs2905054||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6222|0.1664|0.7406|0.7341|0.8718|0.7822||||||||||0.6538|0.2535|0.7578|0.7105|0.8046|0.7233|0.7973|0.7628|0.8394|0.6978|0.7713|0.8718|EUR|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000667414|lncRNA||||||||||rs2905054|3143|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6222|0.1664|0.7406|0.7341|0.8718|0.7822||||||||||0.6538|0.2535|0.7578|0.7105|0.8046|0.7233|0.7973|0.7628|0.8394|0.6978|0.7713|0.8718|EUR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA||5/7|ENST00000670780.1:n.3910+195G>T|||||||rs2905054||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6222|0.1664|0.7406|0.7341|0.8718|0.7822||||||||||0.6538|0.2535|0.7578|0.7105|0.8046|0.7233|0.7973|0.7628|0.8394|0.6978|0.7713|0.8718|EUR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||2/3|ENST00000685334.1:n.255+195G>T|||||||rs2905054||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6222|0.1664|0.7406|0.7341|0.8718|0.7822||||||||||0.6538|0.2535|0.7578|0.7105|0.8046|0.7233|0.7973|0.7628|0.8394|0.6978|0.7713|0.8718|EUR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA||2/3|ENST00000685566.1:n.299+195G>T|||||||rs2905054||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6222|0.1664|0.7406|0.7341|0.8718|0.7822||||||||||0.6538|0.2535|0.7578|0.7105|0.8046|0.7233|0.7973|0.7628|0.8394|0.6978|0.7713|0.8718|EUR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA||3/5|ENST00000685764.2:n.419+195G>T|||||||rs2905054||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6222|0.1664|0.7406|0.7341|0.8718|0.7822||||||||||0.6538|0.2535|0.7578|0.7105|0.8046|0.7233|0.7973|0.7628|0.8394|0.6978|0.7713|0.8718|EUR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA||6/7|ENST00000686238.1:n.849+195G>T|||||||rs2905054||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6222|0.1664|0.7406|0.7341|0.8718|0.7822||||||||||0.6538|0.2535|0.7578|0.7105|0.8046|0.7233|0.7973|0.7628|0.8394|0.6978|0.7713|0.8718|EUR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA||5/6|ENST00000688008.2:n.752+195G>T|||||||rs2905054||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6222|0.1664|0.7406|0.7341|0.8718|0.7822||||||||||0.6538|0.2535|0.7578|0.7105|0.8046|0.7233|0.7973|0.7628|0.8394|0.6978|0.7713|0.8718|EUR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA||3/5|ENST00000688309.1:n.454+195G>T|||||||rs2905054||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6222|0.1664|0.7406|0.7341|0.8718|0.7822||||||||||0.6538|0.2535|0.7578|0.7105|0.8046|0.7233|0.7973|0.7628|0.8394|0.6978|0.7713|0.8718|EUR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688420|lncRNA||3/4|ENST00000688420.1:n.398+195G>T|||||||rs2905054||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6222|0.1664|0.7406|0.7341|0.8718|0.7822||||||||||0.6538|0.2535|0.7578|0.7105|0.8046|0.7233|0.7973|0.7628|0.8394|0.6978|0.7713|0.8718|EUR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA||4/6|ENST00000691234.2:n.515+195G>T|||||||rs2905054||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6222|0.1664|0.7406|0.7341|0.8718|0.7822||||||||||0.6538|0.2535|0.7578|0.7105|0.8046|0.7233|0.7973|0.7628|0.8394|0.6978|0.7713|0.8718|EUR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA||4/6|ENST00000691316.1:n.523+195G>T|||||||rs2905054||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6222|0.1664|0.7406|0.7341|0.8718|0.7822||||||||||0.6538|0.2535|0.7578|0.7105|0.8046|0.7233|0.7973|0.7628|0.8394|0.6978|0.7713|0.8718|EUR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA||4/5|ENST00000692194.1:n.522+195G>T|||||||rs2905054||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6222|0.1664|0.7406|0.7341|0.8718|0.7822||||||||||0.6538|0.2535|0.7578|0.7105|0.8046|0.7233|0.7973|0.7628|0.8394|0.6978|0.7713|0.8718|EUR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA||3/4|ENST00000701598.1:n.446+195G>T|||||||rs2905054||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6222|0.1664|0.7406|0.7341|0.8718|0.7822||||||||||0.6538|0.2535|0.7578|0.7105|0.8046|0.7233|0.7973|0.7628|0.8394|0.6978|0.7713|0.8718|EUR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA||5/6|ENST00000701768.1:n.661+195G>T|||||||rs2905054||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6222|0.1664|0.7406|0.7341|0.8718|0.7822||||||||||0.6538|0.2535|0.7578|0.7105|0.8046|0.7233|0.7973|0.7628|0.8394|0.6978|0.7713|0.8718|EUR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA||4/5|ENST00000702098.1:n.473+216G>T|||||||rs2905054||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6222|0.1664|0.7406|0.7341|0.8718|0.7822||||||||||0.6538|0.2535|0.7578|0.7105|0.8046|0.7233|0.7973|0.7628|0.8394|0.6978|0.7713|0.8718|EUR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA||3/4|ENST00000702273.1:n.339+216G>T|||||||rs2905054||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6222|0.1664|0.7406|0.7341|0.8718|0.7822||||||||||0.6538|0.2535|0.7578|0.7105|0.8046|0.7233|0.7973|0.7628|0.8394|0.6978|0.7713|0.8718|EUR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA||3/4|ENST00000702557.1:n.367+195G>T|||||||rs2905054||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6222|0.1664|0.7406|0.7341|0.8718|0.7822||||||||||0.6538|0.2535|0.7578|0.7105|0.8046|0.7233|0.7973|0.7628|0.8394|0.6978|0.7713|0.8718|EUR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA||4/5|ENST00000702847.1:n.522+195G>T|||||||rs2905054||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6222|0.1664|0.7406|0.7341|0.8718|0.7822||||||||||0.6538|0.2535|0.7578|0.7105|0.8046|0.7233|0.7973|0.7628|0.8394|0.6978|0.7713|0.8718|EUR|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918352|enhancer||||||||||rs2905054||||SNV||||||||||||||||||||0.6222|0.1664|0.7406|0.7341|0.8718|0.7822||||||||||0.6538|0.2535|0.7578|0.7105|0.8046|0.7233|0.7973|0.7628|0.8394|0.6978|0.7713|0.8718|EUR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 853565 . G C . haplotype;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|0%2C0;DP=3;ECNT=2;GERMQ=46;MBQ=0,32;MFRL=0,0;MMQ=60,25;MPOS=128;POPAF=7.3;TLOD=8.47;SRC=custom;GRP=custom;CSQ=C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA|3/3||ENST00000416570.6:n.1850G>C||1850|||||rs76619733||1||SNV|HGNC|HGNC:49377||||3|||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000425657|retained_intron||||||||||rs76619733|813|1||SNV|HGNC|HGNC:49377||||3|||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA|5/5||ENST00000445118.7:n.735G>C||735|||||rs76619733||1||SNV|HGNC|HGNC:49377|YES|||1|||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA||||||||||rs76619733|1551|1||SNV|HGNC|HGNC:49377||||5|||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA|5/5||ENST00000449005.7:n.731G>C||731|||||rs76619733||1||SNV|HGNC|HGNC:49377||||1|||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA|8/8||ENST00000608189.6:n.1122G>C||1122|||||rs76619733||1||SNV|HGNC|HGNC:49377||||5|||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA|8/8||ENST00000609009.6:n.1112G>C||1112|||||rs76619733||1||SNV|HGNC|HGNC:49377||||5|||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA|6/6||ENST00000609139.7:n.840G>C||840|||||rs76619733||1||SNV|HGNC|HGNC:49377||||3|||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000610067|lncRNA||||||||||rs76619733|2440|1||SNV|HGNC|HGNC:49377||||4|||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA||||||||||rs76619733|1050|1||SNV|HGNC|HGNC:49377||||5|||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA|4/4||ENST00000623070.5:n.585G>C||585|||||rs76619733||1||SNV|HGNC|HGNC:49377||||4|||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA|5/5||ENST00000623808.4:n.772G>C||772|||||rs76619733||1||SNV|HGNC|HGNC:49377||||5|||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||||||||||rs76619733|3973|1||SNV|HGNC|HGNC:49377||||5|||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA|6/6||ENST00000657175.1:n.738G>C||738|||||rs76619733||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA|5/6||ENST00000657837.1:n.564G>C||564|||||rs76619733||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA|5/5||ENST00000658846.2:n.1411G>C||1411|||||rs76619733||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA|6/7||ENST00000659124.2:n.878G>C||878|||||rs76619733||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA|7/7||ENST00000661237.3:n.1001G>C||1001|||||rs76619733||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA|7/8||ENST00000666741.2:n.970G>C||970|||||rs76619733||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000667414|lncRNA||||||||||rs76619733|4403|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA|7/8||ENST00000670780.1:n.4181G>C||4181|||||rs76619733||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA|4/4||ENST00000685334.1:n.526G>C||526|||||rs76619733||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA|4/4||ENST00000685566.1:n.570G>C||570|||||rs76619733||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA|5/6||ENST00000685764.2:n.690G>C||690|||||rs76619733||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA|8/8||ENST00000686238.1:n.1120G>C||1120|||||rs76619733||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA|7/7||ENST00000688008.2:n.1023G>C||1023|||||rs76619733||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA|5/6||ENST00000688309.1:n.725G>C||725|||||rs76619733||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688420|lncRNA|5/5||ENST00000688420.1:n.669G>C||669|||||rs76619733||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA|6/7||ENST00000691234.2:n.786G>C||786|||||rs76619733||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA|6/7||ENST00000691316.1:n.794G>C||794|||||rs76619733||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA|6/6||ENST00000692194.1:n.717G>C||717|||||rs76619733||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA|5/5||ENST00000701598.1:n.717G>C||717|||||rs76619733||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA|6/7||ENST00000701768.1:n.836G>C||836|||||rs76619733||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA|6/6||ENST00000702098.1:n.744G>C||744|||||rs76619733||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA|5/5||ENST00000702273.1:n.610G>C||610|||||rs76619733||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA|5/5||ENST00000702557.1:n.638G>C||638|||||rs76619733||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA|6/6||ENST00000702847.1:n.793G>C||793|||||rs76619733||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,2:0.764:2:0,0:0,1:0,2:0|1:853565_G_C:853565:0,0,1,1 -chr1 853565 . G C . haplotype;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=1%2C1|3%2C2;DP=8;ECNT=2;GERMQ=38;MBQ=31,33;MFRL=0,0;MMQ=21,28;MPOS=122;POPAF=7.3;TLOD=19.24;SRC=custom;GRP=custom;CSQ=C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA|3/3||ENST00000416570.6:n.1850G>C||1850|||||rs76619733||1||SNV|HGNC|HGNC:49377||||3|||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000425657|retained_intron||||||||||rs76619733|813|1||SNV|HGNC|HGNC:49377||||3|||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA|5/5||ENST00000445118.7:n.735G>C||735|||||rs76619733||1||SNV|HGNC|HGNC:49377|YES|||1|||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA||||||||||rs76619733|1551|1||SNV|HGNC|HGNC:49377||||5|||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA|5/5||ENST00000449005.7:n.731G>C||731|||||rs76619733||1||SNV|HGNC|HGNC:49377||||1|||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA|8/8||ENST00000608189.6:n.1122G>C||1122|||||rs76619733||1||SNV|HGNC|HGNC:49377||||5|||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA|8/8||ENST00000609009.6:n.1112G>C||1112|||||rs76619733||1||SNV|HGNC|HGNC:49377||||5|||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA|6/6||ENST00000609139.7:n.840G>C||840|||||rs76619733||1||SNV|HGNC|HGNC:49377||||3|||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000610067|lncRNA||||||||||rs76619733|2440|1||SNV|HGNC|HGNC:49377||||4|||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA||||||||||rs76619733|1050|1||SNV|HGNC|HGNC:49377||||5|||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA|4/4||ENST00000623070.5:n.585G>C||585|||||rs76619733||1||SNV|HGNC|HGNC:49377||||4|||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA|5/5||ENST00000623808.4:n.772G>C||772|||||rs76619733||1||SNV|HGNC|HGNC:49377||||5|||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||||||||||rs76619733|3973|1||SNV|HGNC|HGNC:49377||||5|||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA|6/6||ENST00000657175.1:n.738G>C||738|||||rs76619733||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA|5/6||ENST00000657837.1:n.564G>C||564|||||rs76619733||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA|5/5||ENST00000658846.2:n.1411G>C||1411|||||rs76619733||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA|6/7||ENST00000659124.2:n.878G>C||878|||||rs76619733||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA|7/7||ENST00000661237.3:n.1001G>C||1001|||||rs76619733||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA|7/8||ENST00000666741.2:n.970G>C||970|||||rs76619733||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000667414|lncRNA||||||||||rs76619733|4403|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA|7/8||ENST00000670780.1:n.4181G>C||4181|||||rs76619733||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA|4/4||ENST00000685334.1:n.526G>C||526|||||rs76619733||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA|4/4||ENST00000685566.1:n.570G>C||570|||||rs76619733||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA|5/6||ENST00000685764.2:n.690G>C||690|||||rs76619733||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA|8/8||ENST00000686238.1:n.1120G>C||1120|||||rs76619733||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA|7/7||ENST00000688008.2:n.1023G>C||1023|||||rs76619733||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA|5/6||ENST00000688309.1:n.725G>C||725|||||rs76619733||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688420|lncRNA|5/5||ENST00000688420.1:n.669G>C||669|||||rs76619733||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA|6/7||ENST00000691234.2:n.786G>C||786|||||rs76619733||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA|6/7||ENST00000691316.1:n.794G>C||794|||||rs76619733||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA|6/6||ENST00000692194.1:n.717G>C||717|||||rs76619733||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA|5/5||ENST00000701598.1:n.717G>C||717|||||rs76619733||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA|6/7||ENST00000701768.1:n.836G>C||836|||||rs76619733||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA|6/6||ENST00000702098.1:n.744G>C||744|||||rs76619733||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA|5/5||ENST00000702273.1:n.610G>C||610|||||rs76619733||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA|5/5||ENST00000702557.1:n.638G>C||638|||||rs76619733||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA|6/6||ENST00000702847.1:n.793G>C||793|||||rs76619733||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:2,5:0.671:7:0,0:1,3:1,3:0|1:853565_G_C:853565:1,1,3,2 -chr1 853572 . G A . haplotype;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=2;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,25;MPOS=135;POPAF=7.3;TLOD=8.52;SRC=custom;GRP=custom;CSQ=A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA|3/3||ENST00000416570.6:n.1857G>A||1857|||||rs55764050||1||SNV|HGNC|HGNC:49377||||3|||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000425657|retained_intron||||||||||rs55764050|820|1||SNV|HGNC|HGNC:49377||||3|||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA|5/5||ENST00000445118.7:n.742G>A||742|||||rs55764050||1||SNV|HGNC|HGNC:49377|YES|||1|||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA||||||||||rs55764050|1558|1||SNV|HGNC|HGNC:49377||||5|||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA|5/5||ENST00000449005.7:n.738G>A||738|||||rs55764050||1||SNV|HGNC|HGNC:49377||||1|||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA|8/8||ENST00000608189.6:n.1129G>A||1129|||||rs55764050||1||SNV|HGNC|HGNC:49377||||5|||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA|8/8||ENST00000609009.6:n.1119G>A||1119|||||rs55764050||1||SNV|HGNC|HGNC:49377||||5|||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA|6/6||ENST00000609139.7:n.847G>A||847|||||rs55764050||1||SNV|HGNC|HGNC:49377||||3|||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000610067|lncRNA||||||||||rs55764050|2447|1||SNV|HGNC|HGNC:49377||||4|||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA||||||||||rs55764050|1057|1||SNV|HGNC|HGNC:49377||||5|||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA|4/4||ENST00000623070.5:n.592G>A||592|||||rs55764050||1||SNV|HGNC|HGNC:49377||||4|||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA|5/5||ENST00000623808.4:n.779G>A||779|||||rs55764050||1||SNV|HGNC|HGNC:49377||||5|||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||||||||||rs55764050|3980|1||SNV|HGNC|HGNC:49377||||5|||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA|6/6||ENST00000657175.1:n.745G>A||745|||||rs55764050||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA|5/6||ENST00000657837.1:n.571G>A||571|||||rs55764050||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA|5/5||ENST00000658846.2:n.1418G>A||1418|||||rs55764050||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA|6/7||ENST00000659124.2:n.885G>A||885|||||rs55764050||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA|7/7||ENST00000661237.3:n.1008G>A||1008|||||rs55764050||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA|7/8||ENST00000666741.2:n.977G>A||977|||||rs55764050||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000667414|lncRNA||||||||||rs55764050|4410|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA|7/8||ENST00000670780.1:n.4188G>A||4188|||||rs55764050||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA|4/4||ENST00000685334.1:n.533G>A||533|||||rs55764050||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA|4/4||ENST00000685566.1:n.577G>A||577|||||rs55764050||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA|5/6||ENST00000685764.2:n.697G>A||697|||||rs55764050||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA|8/8||ENST00000686238.1:n.1127G>A||1127|||||rs55764050||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA|7/7||ENST00000688008.2:n.1030G>A||1030|||||rs55764050||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA|5/6||ENST00000688309.1:n.732G>A||732|||||rs55764050||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688420|lncRNA|5/5||ENST00000688420.1:n.676G>A||676|||||rs55764050||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA|6/7||ENST00000691234.2:n.793G>A||793|||||rs55764050||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA|6/7||ENST00000691316.1:n.801G>A||801|||||rs55764050||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA|6/6||ENST00000692194.1:n.724G>A||724|||||rs55764050||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA|5/5||ENST00000701598.1:n.724G>A||724|||||rs55764050||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA|6/7||ENST00000701768.1:n.843G>A||843|||||rs55764050||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA|6/6||ENST00000702098.1:n.751G>A||751|||||rs55764050||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA|5/5||ENST00000702273.1:n.617G>A||617|||||rs55764050||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA|5/5||ENST00000702557.1:n.645G>A||645|||||rs55764050||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA|6/6||ENST00000702847.1:n.800G>A||800|||||rs55764050||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,2:0.75:2:0,0:0,1:0,2:0|1:853565_G_C:853565:0,0,1,1 -chr1 853572 . G A . haplotype;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C1|3%2C2;DP=6;ECNT=2;GERMQ=42;MBQ=34,33;MFRL=0,0;MMQ=20,28;MPOS=126;POPAF=7.3;TLOD=19.27;SRC=custom;GRP=custom;CSQ=A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA|3/3||ENST00000416570.6:n.1857G>A||1857|||||rs55764050||1||SNV|HGNC|HGNC:49377||||3|||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000425657|retained_intron||||||||||rs55764050|820|1||SNV|HGNC|HGNC:49377||||3|||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA|5/5||ENST00000445118.7:n.742G>A||742|||||rs55764050||1||SNV|HGNC|HGNC:49377|YES|||1|||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA||||||||||rs55764050|1558|1||SNV|HGNC|HGNC:49377||||5|||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA|5/5||ENST00000449005.7:n.738G>A||738|||||rs55764050||1||SNV|HGNC|HGNC:49377||||1|||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA|8/8||ENST00000608189.6:n.1129G>A||1129|||||rs55764050||1||SNV|HGNC|HGNC:49377||||5|||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA|8/8||ENST00000609009.6:n.1119G>A||1119|||||rs55764050||1||SNV|HGNC|HGNC:49377||||5|||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA|6/6||ENST00000609139.7:n.847G>A||847|||||rs55764050||1||SNV|HGNC|HGNC:49377||||3|||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000610067|lncRNA||||||||||rs55764050|2447|1||SNV|HGNC|HGNC:49377||||4|||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA||||||||||rs55764050|1057|1||SNV|HGNC|HGNC:49377||||5|||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA|4/4||ENST00000623070.5:n.592G>A||592|||||rs55764050||1||SNV|HGNC|HGNC:49377||||4|||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA|5/5||ENST00000623808.4:n.779G>A||779|||||rs55764050||1||SNV|HGNC|HGNC:49377||||5|||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||||||||||rs55764050|3980|1||SNV|HGNC|HGNC:49377||||5|||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA|6/6||ENST00000657175.1:n.745G>A||745|||||rs55764050||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA|5/6||ENST00000657837.1:n.571G>A||571|||||rs55764050||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA|5/5||ENST00000658846.2:n.1418G>A||1418|||||rs55764050||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA|6/7||ENST00000659124.2:n.885G>A||885|||||rs55764050||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA|7/7||ENST00000661237.3:n.1008G>A||1008|||||rs55764050||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA|7/8||ENST00000666741.2:n.977G>A||977|||||rs55764050||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000667414|lncRNA||||||||||rs55764050|4410|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA|7/8||ENST00000670780.1:n.4188G>A||4188|||||rs55764050||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA|4/4||ENST00000685334.1:n.533G>A||533|||||rs55764050||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA|4/4||ENST00000685566.1:n.577G>A||577|||||rs55764050||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA|5/6||ENST00000685764.2:n.697G>A||697|||||rs55764050||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA|8/8||ENST00000686238.1:n.1127G>A||1127|||||rs55764050||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA|7/7||ENST00000688008.2:n.1030G>A||1030|||||rs55764050||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA|5/6||ENST00000688309.1:n.732G>A||732|||||rs55764050||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688420|lncRNA|5/5||ENST00000688420.1:n.676G>A||676|||||rs55764050||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA|6/7||ENST00000691234.2:n.793G>A||793|||||rs55764050||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA|6/7||ENST00000691316.1:n.801G>A||801|||||rs55764050||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA|6/6||ENST00000692194.1:n.724G>A||724|||||rs55764050||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA|5/5||ENST00000701598.1:n.724G>A||724|||||rs55764050||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA|6/7||ENST00000701768.1:n.843G>A||843|||||rs55764050||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA|6/6||ENST00000702098.1:n.751G>A||751|||||rs55764050||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA|5/5||ENST00000702273.1:n.617G>A||617|||||rs55764050||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA|5/5||ENST00000702557.1:n.645G>A||645|||||rs55764050||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA|6/6||ENST00000702847.1:n.800G>A||800|||||rs55764050||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:1,5:0.666:6:0,0:0,2:1,3:0|1:853565_G_C:853565:0,1,3,2 -chr1 855637 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=11%2C7|1%2C1;DP=20;ECNT=1;GERMQ=66;MBQ=34,33;MFRL=0,0;MMQ=42,40;MPOS=8;POPAF=7.3;TLOD=5.23;SRC=custom;GRP=custom;CSQ=A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA||||||||||rs2100654475|1541|1||SNV|HGNC|HGNC:49377||||3|||||||||||||||||||||||||||||6.571e-06|0|0|0|0|0|0|0|0|0|0.0002072|0.0002072|gnomADg_SAS|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000425657|retained_intron||||||||||rs2100654475|2885|1||SNV|HGNC|HGNC:49377||||3|||||||||||||||||||||||||||||6.571e-06|0|0|0|0|0|0|0|0|0|0.0002072|0.0002072|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA|5/5||ENST00000445118.7:n.2807G>A||2807|||||rs2100654475||1||SNV|HGNC|HGNC:49377|YES|||1|||||||||||||||||||||||||||||6.571e-06|0|0|0|0|0|0|0|0|0|0.0002072|0.0002072|gnomADg_SAS|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA||||||||||rs2100654475|3623|1||SNV|HGNC|HGNC:49377||||5|||||||||||||||||||||||||||||6.571e-06|0|0|0|0|0|0|0|0|0|0.0002072|0.0002072|gnomADg_SAS|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA||||||||||rs2100654475|1250|1||SNV|HGNC|HGNC:49377||||1|||||||||||||||||||||||||||||6.571e-06|0|0|0|0|0|0|0|0|0|0.0002072|0.0002072|gnomADg_SAS|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA||||||||||rs2100654475|1534|1||SNV|HGNC|HGNC:49377||||5|||||||||||||||||||||||||||||6.571e-06|0|0|0|0|0|0|0|0|0|0.0002072|0.0002072|gnomADg_SAS|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA||||||||||rs2100654475|1252|1||SNV|HGNC|HGNC:49377||||5|||||||||||||||||||||||||||||6.571e-06|0|0|0|0|0|0|0|0|0|0.0002072|0.0002072|gnomADg_SAS|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA||||||||||rs2100654475|1536|1||SNV|HGNC|HGNC:49377||||3|||||||||||||||||||||||||||||6.571e-06|0|0|0|0|0|0|0|0|0|0.0002072|0.0002072|gnomADg_SAS|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000610067|lncRNA||||||||||rs2100654475|4512|1||SNV|HGNC|HGNC:49377||||4|||||||||||||||||||||||||||||6.571e-06|0|0|0|0|0|0|0|0|0|0.0002072|0.0002072|gnomADg_SAS|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA||||||||||rs2100654475|3122|1||SNV|HGNC|HGNC:49377||||5|||||||||||||||||||||||||||||6.571e-06|0|0|0|0|0|0|0|0|0|0.0002072|0.0002072|gnomADg_SAS|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA||||||||||rs2100654475|1236|1||SNV|HGNC|HGNC:49377||||4|||||||||||||||||||||||||||||6.571e-06|0|0|0|0|0|0|0|0|0|0.0002072|0.0002072|gnomADg_SAS|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA||||||||||rs2100654475|1241|1||SNV|HGNC|HGNC:49377||||5|||||||||||||||||||||||||||||6.571e-06|0|0|0|0|0|0|0|0|0|0.0002072|0.0002072|gnomADg_SAS|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA||||||||||rs2100654475|1252|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||6.571e-06|0|0|0|0|0|0|0|0|0|0.0002072|0.0002072|gnomADg_SAS|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA||5/5|ENST00000657837.1:n.2135+501G>A|||||||rs2100654475||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||6.571e-06|0|0|0|0|0|0|0|0|0|0.0002072|0.0002072|gnomADg_SAS|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA||||||||||rs2100654475|1226|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||6.571e-06|0|0|0|0|0|0|0|0|0|0.0002072|0.0002072|gnomADg_SAS|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA||6/6|ENST00000659124.2:n.2449+501G>A|||||||rs2100654475||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||6.571e-06|0|0|0|0|0|0|0|0|0|0.0002072|0.0002072|gnomADg_SAS|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA||||||||||rs2100654475|1214|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||6.571e-06|0|0|0|0|0|0|0|0|0|0.0002072|0.0002072|gnomADg_SAS|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000288531|Transcript|ENST00000661463|lncRNA||||||||||rs2100654475|4590|1||SNV|||YES||||||||||||||||||||||||||||||||6.571e-06|0|0|0|0|0|0|0|0|0|0.0002072|0.0002072|gnomADg_SAS|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA||7/7|ENST00000666741.2:n.2526+516G>A|||||||rs2100654475||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||6.571e-06|0|0|0|0|0|0|0|0|0|0.0002072|0.0002072|gnomADg_SAS|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA||7/7|ENST00000670780.1:n.5752+501G>A|||||||rs2100654475||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||6.571e-06|0|0|0|0|0|0|0|0|0|0.0002072|0.0002072|gnomADg_SAS|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000288531|Transcript|ENST00000671208|lncRNA||||||||||rs2100654475|4589|1||SNV|||||||||||||||||||||||||||||||||||6.571e-06|0|0|0|0|0|0|0|0|0|0.0002072|0.0002072|gnomADg_SAS|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||||||||||rs2100654475|1252|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||6.571e-06|0|0|0|0|0|0|0|0|0|0.0002072|0.0002072|gnomADg_SAS|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA||||||||||rs2100654475|1241|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||6.571e-06|0|0|0|0|0|0|0|0|0|0.0002072|0.0002072|gnomADg_SAS|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA||5/5|ENST00000685764.2:n.2246+516G>A|||||||rs2100654475||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||6.571e-06|0|0|0|0|0|0|0|0|0|0.0002072|0.0002072|gnomADg_SAS|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA||||||||||rs2100654475|1243|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||6.571e-06|0|0|0|0|0|0|0|0|0|0.0002072|0.0002072|gnomADg_SAS|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA||||||||||rs2100654475|1239|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||6.571e-06|0|0|0|0|0|0|0|0|0|0.0002072|0.0002072|gnomADg_SAS|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA||5/5|ENST00000688309.1:n.2296+501G>A|||||||rs2100654475||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||6.571e-06|0|0|0|0|0|0|0|0|0|0.0002072|0.0002072|gnomADg_SAS|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688420|lncRNA||||||||||rs2100654475|1541|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||6.571e-06|0|0|0|0|0|0|0|0|0|0.0002072|0.0002072|gnomADg_SAS|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA||6/6|ENST00000691234.2:n.2357+501G>A|||||||rs2100654475||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||6.571e-06|0|0|0|0|0|0|0|0|0|0.0002072|0.0002072|gnomADg_SAS|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA||6/6|ENST00000691316.1:n.2350+516G>A|||||||rs2100654475||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||6.571e-06|0|0|0|0|0|0|0|0|0|0.0002072|0.0002072|gnomADg_SAS|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA||||||||||rs2100654475|1226|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||6.571e-06|0|0|0|0|0|0|0|0|0|0.0002072|0.0002072|gnomADg_SAS|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA||||||||||rs2100654475|1541|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||6.571e-06|0|0|0|0|0|0|0|0|0|0.0002072|0.0002072|gnomADg_SAS|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA||6/6|ENST00000701768.1:n.2407+501G>A|||||||rs2100654475||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||6.571e-06|0|0|0|0|0|0|0|0|0|0.0002072|0.0002072|gnomADg_SAS|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA||||||||||rs2100654475|1215|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||6.571e-06|0|0|0|0|0|0|0|0|0|0.0002072|0.0002072|gnomADg_SAS|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA||||||||||rs2100654475|1250|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||6.571e-06|0|0|0|0|0|0|0|0|0|0.0002072|0.0002072|gnomADg_SAS|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA||||||||||rs2100654475|1250|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||6.571e-06|0|0|0|0|0|0|0|0|0|0.0002072|0.0002072|gnomADg_SAS|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA||||||||||rs2100654475|1214|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||6.571e-06|0|0|0|0|0|0|0|0|0|0.0002072|0.0002072|gnomADg_SAS|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344408|open_chromatin_region||||||||||rs2100654475||||SNV|||||||||||||||||||||||||||||||||||6.571e-06|0|0|0|0|0|0|0|0|0|0.0002072|0.0002072|gnomADg_SAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:18,2:0.125:20:1,0:11,1:13,1:11,7,1,1 -chr1 855732 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=12%2C13|1%2C1;DP=27;ECNT=1;GERMQ=83;MBQ=33,33;MFRL=0,0;MMQ=40,42;MPOS=130;POPAF=7.3;TLOD=5.17;SRC=custom;GRP=custom;CSQ=A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA||||||||||rs1639546295|1636|1||SNV|HGNC|HGNC:49377||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000425657|retained_intron||||||||||rs1639546295|2980|1||SNV|HGNC|HGNC:49377||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA|5/5||ENST00000445118.7:n.2902G>A||2902|||||rs1639546295||1||SNV|HGNC|HGNC:49377|YES|||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA||||||||||rs1639546295|3718|1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA||||||||||rs1639546295|1345|1||SNV|HGNC|HGNC:49377||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA||||||||||rs1639546295|1629|1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA||||||||||rs1639546295|1347|1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA||||||||||rs1639546295|1631|1||SNV|HGNC|HGNC:49377||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000610067|lncRNA||||||||||rs1639546295|4607|1||SNV|HGNC|HGNC:49377||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA||||||||||rs1639546295|3217|1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA||||||||||rs1639546295|1331|1||SNV|HGNC|HGNC:49377||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA||||||||||rs1639546295|1336|1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA||||||||||rs1639546295|1347|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA||5/5|ENST00000657837.1:n.2135+596G>A|||||||rs1639546295||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA||||||||||rs1639546295|1321|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA||6/6|ENST00000659124.2:n.2449+596G>A|||||||rs1639546295||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA||||||||||rs1639546295|1309|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000288531|Transcript|ENST00000661463|lncRNA||||||||||rs1639546295|4495|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA||7/7|ENST00000666741.2:n.2526+611G>A|||||||rs1639546295||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA||7/7|ENST00000670780.1:n.5752+596G>A|||||||rs1639546295||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000288531|Transcript|ENST00000671208|lncRNA||||||||||rs1639546295|4494|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||||||||||rs1639546295|1347|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA||||||||||rs1639546295|1336|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA||5/5|ENST00000685764.2:n.2246+611G>A|||||||rs1639546295||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA||||||||||rs1639546295|1338|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA||||||||||rs1639546295|1334|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA||5/5|ENST00000688309.1:n.2296+596G>A|||||||rs1639546295||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688420|lncRNA||||||||||rs1639546295|1636|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA||6/6|ENST00000691234.2:n.2357+596G>A|||||||rs1639546295||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA||6/6|ENST00000691316.1:n.2350+611G>A|||||||rs1639546295||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA||||||||||rs1639546295|1321|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA||||||||||rs1639546295|1636|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA||6/6|ENST00000701768.1:n.2407+596G>A|||||||rs1639546295||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA||||||||||rs1639546295|1310|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA||||||||||rs1639546295|1345|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA||||||||||rs1639546295|1345|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA||||||||||rs1639546295|1309|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344408|open_chromatin_region||||||||||rs1639546295||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:25,2:0.118:27:1,0:12,1:14,1:12,13,1,1 -chr1 855801 . A G . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=4%2C10|1%2C1;DP=20;ECNT=1;GERMQ=57;MBQ=32,33;MFRL=0,0;MMQ=32,24;MPOS=104;POPAF=7.3;TLOD=3.54;SRC=custom;GRP=custom;CSQ=G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA|||||||||||1705|1||SNV|HGNC|HGNC:49377||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000425657|retained_intron|||||||||||3049|1||SNV|HGNC|HGNC:49377||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA|5/5||ENST00000445118.7:n.2971A>G||2971|||||||1||SNV|HGNC|HGNC:49377|YES|||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA|||||||||||3787|1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA|||||||||||1414|1||SNV|HGNC|HGNC:49377||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA|||||||||||1698|1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA|||||||||||1416|1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA|||||||||||1700|1||SNV|HGNC|HGNC:49377||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000610067|lncRNA|||||||||||4676|1||SNV|HGNC|HGNC:49377||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA|||||||||||3286|1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA|||||||||||1400|1||SNV|HGNC|HGNC:49377||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA|||||||||||1405|1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA|||||||||||1416|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA||5/5|ENST00000657837.1:n.2136-648A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA|||||||||||1390|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA||6/6|ENST00000659124.2:n.2450-648A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA|||||||||||1378|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000288531|Transcript|ENST00000661463|lncRNA|||||||||||4426|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA||7/7|ENST00000666741.2:n.2527-648A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA||7/7|ENST00000670780.1:n.5753-648A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000288531|Transcript|ENST00000671208|lncRNA|||||||||||4425|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA|||||||||||1416|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA|||||||||||1405|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA||5/5|ENST00000685764.2:n.2247-648A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA|||||||||||1407|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA|||||||||||1403|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA||5/5|ENST00000688309.1:n.2297-648A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688420|lncRNA|||||||||||1705|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA||6/6|ENST00000691234.2:n.2358-648A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA||6/6|ENST00000691316.1:n.2351-648A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA|||||||||||1390|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA|||||||||||1705|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA||6/6|ENST00000701768.1:n.2408-648A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA|||||||||||1379|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA|||||||||||1414|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA|||||||||||1414|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA|||||||||||1378|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344408|open_chromatin_region||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:14,2:0.141:16:4,0:4,1:11,1:4,10,1,1 -chr1 856029 . T C . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=9%2C5|1%2C1;DP=16;ECNT=1;GERMQ=57;MBQ=32,31;MFRL=0,0;MMQ=22,22;MPOS=130;POPAF=7.3;TLOD=3.31;SRC=custom;GRP=custom;CSQ=C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA||||||||||rs1311193373|1933|1||SNV|HGNC|HGNC:49377||||3|||||||||||||||||||||||||||||1.315e-05|0|0|0|0|0|0|0|2.941e-05|0|0|2.941e-05|gnomADg_NFE|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000425657|retained_intron||||||||||rs1311193373|3277|1||SNV|HGNC|HGNC:49377||||3|||||||||||||||||||||||||||||1.315e-05|0|0|0|0|0|0|0|2.941e-05|0|0|2.941e-05|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA|5/5||ENST00000445118.7:n.3199T>C||3199|||||rs1311193373||1||SNV|HGNC|HGNC:49377|YES|||1|||||||||||||||||||||||||||||1.315e-05|0|0|0|0|0|0|0|2.941e-05|0|0|2.941e-05|gnomADg_NFE|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA||||||||||rs1311193373|4015|1||SNV|HGNC|HGNC:49377||||5|||||||||||||||||||||||||||||1.315e-05|0|0|0|0|0|0|0|2.941e-05|0|0|2.941e-05|gnomADg_NFE|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA||||||||||rs1311193373|1642|1||SNV|HGNC|HGNC:49377||||1|||||||||||||||||||||||||||||1.315e-05|0|0|0|0|0|0|0|2.941e-05|0|0|2.941e-05|gnomADg_NFE|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA||||||||||rs1311193373|1926|1||SNV|HGNC|HGNC:49377||||5|||||||||||||||||||||||||||||1.315e-05|0|0|0|0|0|0|0|2.941e-05|0|0|2.941e-05|gnomADg_NFE|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA||||||||||rs1311193373|1644|1||SNV|HGNC|HGNC:49377||||5|||||||||||||||||||||||||||||1.315e-05|0|0|0|0|0|0|0|2.941e-05|0|0|2.941e-05|gnomADg_NFE|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA||||||||||rs1311193373|1928|1||SNV|HGNC|HGNC:49377||||3|||||||||||||||||||||||||||||1.315e-05|0|0|0|0|0|0|0|2.941e-05|0|0|2.941e-05|gnomADg_NFE|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000610067|lncRNA||||||||||rs1311193373|4904|1||SNV|HGNC|HGNC:49377||||4|||||||||||||||||||||||||||||1.315e-05|0|0|0|0|0|0|0|2.941e-05|0|0|2.941e-05|gnomADg_NFE|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA||||||||||rs1311193373|3514|1||SNV|HGNC|HGNC:49377||||5|||||||||||||||||||||||||||||1.315e-05|0|0|0|0|0|0|0|2.941e-05|0|0|2.941e-05|gnomADg_NFE|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA||||||||||rs1311193373|1628|1||SNV|HGNC|HGNC:49377||||4|||||||||||||||||||||||||||||1.315e-05|0|0|0|0|0|0|0|2.941e-05|0|0|2.941e-05|gnomADg_NFE|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA||||||||||rs1311193373|1633|1||SNV|HGNC|HGNC:49377||||5|||||||||||||||||||||||||||||1.315e-05|0|0|0|0|0|0|0|2.941e-05|0|0|2.941e-05|gnomADg_NFE|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA||||||||||rs1311193373|1644|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||1.315e-05|0|0|0|0|0|0|0|2.941e-05|0|0|2.941e-05|gnomADg_NFE|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA||5/5|ENST00000657837.1:n.2136-420T>C|||||||rs1311193373||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||1.315e-05|0|0|0|0|0|0|0|2.941e-05|0|0|2.941e-05|gnomADg_NFE|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA||||||||||rs1311193373|1618|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||1.315e-05|0|0|0|0|0|0|0|2.941e-05|0|0|2.941e-05|gnomADg_NFE|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA||6/6|ENST00000659124.2:n.2450-420T>C|||||||rs1311193373||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||1.315e-05|0|0|0|0|0|0|0|2.941e-05|0|0|2.941e-05|gnomADg_NFE|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA||||||||||rs1311193373|1606|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||1.315e-05|0|0|0|0|0|0|0|2.941e-05|0|0|2.941e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000288531|Transcript|ENST00000661463|lncRNA||||||||||rs1311193373|4198|1||SNV|||YES||||||||||||||||||||||||||||||||1.315e-05|0|0|0|0|0|0|0|2.941e-05|0|0|2.941e-05|gnomADg_NFE|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA||7/7|ENST00000666741.2:n.2527-420T>C|||||||rs1311193373||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||1.315e-05|0|0|0|0|0|0|0|2.941e-05|0|0|2.941e-05|gnomADg_NFE|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA||7/7|ENST00000670780.1:n.5753-420T>C|||||||rs1311193373||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||1.315e-05|0|0|0|0|0|0|0|2.941e-05|0|0|2.941e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000288531|Transcript|ENST00000671208|lncRNA||||||||||rs1311193373|4197|1||SNV|||||||||||||||||||||||||||||||||||1.315e-05|0|0|0|0|0|0|0|2.941e-05|0|0|2.941e-05|gnomADg_NFE|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||||||||||rs1311193373|1644|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||1.315e-05|0|0|0|0|0|0|0|2.941e-05|0|0|2.941e-05|gnomADg_NFE|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA||||||||||rs1311193373|1633|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||1.315e-05|0|0|0|0|0|0|0|2.941e-05|0|0|2.941e-05|gnomADg_NFE|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA||5/5|ENST00000685764.2:n.2247-420T>C|||||||rs1311193373||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||1.315e-05|0|0|0|0|0|0|0|2.941e-05|0|0|2.941e-05|gnomADg_NFE|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA||||||||||rs1311193373|1635|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||1.315e-05|0|0|0|0|0|0|0|2.941e-05|0|0|2.941e-05|gnomADg_NFE|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA||||||||||rs1311193373|1631|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||1.315e-05|0|0|0|0|0|0|0|2.941e-05|0|0|2.941e-05|gnomADg_NFE|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA||5/5|ENST00000688309.1:n.2297-420T>C|||||||rs1311193373||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||1.315e-05|0|0|0|0|0|0|0|2.941e-05|0|0|2.941e-05|gnomADg_NFE|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688420|lncRNA||||||||||rs1311193373|1933|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||1.315e-05|0|0|0|0|0|0|0|2.941e-05|0|0|2.941e-05|gnomADg_NFE|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA||6/6|ENST00000691234.2:n.2358-420T>C|||||||rs1311193373||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||1.315e-05|0|0|0|0|0|0|0|2.941e-05|0|0|2.941e-05|gnomADg_NFE|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA||6/6|ENST00000691316.1:n.2351-420T>C|||||||rs1311193373||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||1.315e-05|0|0|0|0|0|0|0|2.941e-05|0|0|2.941e-05|gnomADg_NFE|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA||||||||||rs1311193373|1618|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||1.315e-05|0|0|0|0|0|0|0|2.941e-05|0|0|2.941e-05|gnomADg_NFE|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA||||||||||rs1311193373|1933|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||1.315e-05|0|0|0|0|0|0|0|2.941e-05|0|0|2.941e-05|gnomADg_NFE|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA||6/6|ENST00000701768.1:n.2408-420T>C|||||||rs1311193373||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||1.315e-05|0|0|0|0|0|0|0|2.941e-05|0|0|2.941e-05|gnomADg_NFE|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA||||||||||rs1311193373|1607|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||1.315e-05|0|0|0|0|0|0|0|2.941e-05|0|0|2.941e-05|gnomADg_NFE|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA||||||||||rs1311193373|1642|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||1.315e-05|0|0|0|0|0|0|0|2.941e-05|0|0|2.941e-05|gnomADg_NFE|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA||||||||||rs1311193373|1642|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||1.315e-05|0|0|0|0|0|0|0|2.941e-05|0|0|2.941e-05|gnomADg_NFE|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA||||||||||rs1311193373|1606|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||1.315e-05|0|0|0|0|0|0|0|2.941e-05|0|0|2.941e-05|gnomADg_NFE||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:14,2:0.167:16:0,0:9,1:9,1:9,5,1,1 -chr1 856666 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=19%2C15|1%2C1;DP=36;ECNT=3;GERMQ=93;MBQ=33,33;MFRL=0,0;MMQ=40,48;MPOS=26;POPAF=7.3;TLOD=4.89;SRC=custom;GRP=custom;CSQ=G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA|||||||||||2570|1||SNV|HGNC|HGNC:49377||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000425657|retained_intron|||||||||||3914|1||SNV|HGNC|HGNC:49377||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA|5/5||ENST00000445118.7:n.3836A>G||3836|||||||1||SNV|HGNC|HGNC:49377|YES|||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA|||||||||||4652|1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA|||||||||||2279|1||SNV|HGNC|HGNC:49377||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA|||||||||||2563|1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA|||||||||||2281|1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA|||||||||||2565|1||SNV|HGNC|HGNC:49377||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA|||||||||||4151|1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA|||||||||||2265|1||SNV|HGNC|HGNC:49377||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA|||||||||||2270|1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA|||||||||||2281|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA|6/6||ENST00000657837.1:n.2353A>G||2353|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA|||||||||||2255|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA|7/7||ENST00000659124.2:n.2667A>G||2667|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA|||||||||||2243|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000288531|Transcript|ENST00000661463|lncRNA|||||||||||3561|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA|8/8||ENST00000666741.2:n.2744A>G||2744|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA|8/8||ENST00000670780.1:n.5970A>G||5970|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000288531|Transcript|ENST00000671208|lncRNA|||||||||||3560|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA|||||||||||2281|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA|||||||||||2270|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA|6/6||ENST00000685764.2:n.2464A>G||2464|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA|||||||||||2272|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA|||||||||||2268|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA|6/6||ENST00000688309.1:n.2514A>G||2514|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688420|lncRNA|||||||||||2570|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA|7/7||ENST00000691234.2:n.2575A>G||2575|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA|7/7||ENST00000691316.1:n.2568A>G||2568|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA|||||||||||2255|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA|||||||||||2570|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA|7/7||ENST00000701768.1:n.2625A>G||2625|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA|||||||||||2244|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA|||||||||||2279|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA|||||||||||2279|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA|||||||||||2243|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:34,2:0.087:36:0,0:18,1:20,1:19,15,1,1 -chr1 856691 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=20%2C15|1%2C1;DP=37;ECNT=3;GERMQ=93;MBQ=33,33;MFRL=0,0;MMQ=43,52;MPOS=79;POPAF=7.3;TLOD=4.81;SRC=custom;GRP=custom;CSQ=T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA|||||||||||2595|1||SNV|HGNC|HGNC:49377||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000425657|retained_intron|||||||||||3939|1||SNV|HGNC|HGNC:49377||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA|5/5||ENST00000445118.7:n.3861C>T||3861|||||||1||SNV|HGNC|HGNC:49377|YES|||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA|||||||||||4677|1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA|||||||||||2304|1||SNV|HGNC|HGNC:49377||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA|||||||||||2588|1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA|||||||||||2306|1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA|||||||||||2590|1||SNV|HGNC|HGNC:49377||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA|||||||||||4176|1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA|||||||||||2290|1||SNV|HGNC|HGNC:49377||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA|||||||||||2295|1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA|||||||||||2306|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA|6/6||ENST00000657837.1:n.2378C>T||2378|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA|||||||||||2280|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA|7/7||ENST00000659124.2:n.2692C>T||2692|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA|||||||||||2268|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000288531|Transcript|ENST00000661463|lncRNA|||||||||||3536|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA|8/8||ENST00000666741.2:n.2769C>T||2769|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA|8/8||ENST00000670780.1:n.5995C>T||5995|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000288531|Transcript|ENST00000671208|lncRNA|||||||||||3535|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA|||||||||||2306|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA|||||||||||2295|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA|6/6||ENST00000685764.2:n.2489C>T||2489|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA|||||||||||2297|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA|||||||||||2293|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA|6/6||ENST00000688309.1:n.2539C>T||2539|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688420|lncRNA|||||||||||2595|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA|7/7||ENST00000691234.2:n.2600C>T||2600|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA|7/7||ENST00000691316.1:n.2593C>T||2593|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA|||||||||||2280|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA|||||||||||2595|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA|7/7||ENST00000701768.1:n.2650C>T||2650|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA|||||||||||2269|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA|||||||||||2304|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA|||||||||||2304|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA|||||||||||2268|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:35,2:0.08:37:0,0:20,1:22,1:20,15,1,1 -chr1 856716 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=18%2C13|1%2C1;DP=34;ECNT=3;GERMQ=93;MBQ=33,34;MFRL=0,0;MMQ=46,54;MPOS=89;POPAF=7.3;TLOD=5.01;SRC=custom;GRP=custom;CSQ=C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA|||||||||||2620|1||SNV|HGNC|HGNC:49377||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000425657|retained_intron|||||||||||3964|1||SNV|HGNC|HGNC:49377||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA|5/5||ENST00000445118.7:n.3886T>C||3886|||||||1||SNV|HGNC|HGNC:49377|YES|||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA|||||||||||4702|1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA|||||||||||2329|1||SNV|HGNC|HGNC:49377||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA|||||||||||2613|1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA|||||||||||2331|1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA|||||||||||2615|1||SNV|HGNC|HGNC:49377||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA|||||||||||4201|1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA|||||||||||2315|1||SNV|HGNC|HGNC:49377||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA|||||||||||2320|1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA|||||||||||2331|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA|6/6||ENST00000657837.1:n.2403T>C||2403|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA|||||||||||2305|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA|7/7||ENST00000659124.2:n.2717T>C||2717|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA|||||||||||2293|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000288531|Transcript|ENST00000661463|lncRNA|||||||||||3511|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA|8/8||ENST00000666741.2:n.2794T>C||2794|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA|8/8||ENST00000670780.1:n.6020T>C||6020|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000288531|Transcript|ENST00000671208|lncRNA|||||||||||3510|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA|||||||||||2331|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA|||||||||||2320|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA|6/6||ENST00000685764.2:n.2514T>C||2514|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA|||||||||||2322|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA|||||||||||2318|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA|6/6||ENST00000688309.1:n.2564T>C||2564|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688420|lncRNA|||||||||||2620|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA|7/7||ENST00000691234.2:n.2625T>C||2625|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA|7/7||ENST00000691316.1:n.2618T>C||2618|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA|||||||||||2305|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA|||||||||||2620|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA|7/7||ENST00000701768.1:n.2675T>C||2675|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA|||||||||||2294|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA|||||||||||2329|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA|||||||||||2329|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA|||||||||||2293|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:31,2:0.08:33:0,0:18,1:22,1:18,13,1,1 -chr1 856883 . A G . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|4%2C5;DP=11;ECNT=1;GERMQ=66;MBQ=0,35;MFRL=0,0;MMQ=60,21;MPOS=102;POPAF=7.3;TLOD=22.37;SRC=custom;GRP=custom;CSQ=G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA||||||||||rs1044922|2787|1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000425657|retained_intron||||||||||rs1044922|4131|1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA|5/5||ENST00000445118.7:n.4053A>G||4053|||||rs1044922||1||SNV|HGNC|HGNC:49377|YES|||1||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA||||||||||rs1044922|4869|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA||||||||||rs1044922|2496|1||SNV|HGNC|HGNC:49377||||1||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA||||||||||rs1044922|2780|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA||||||||||rs1044922|2498|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA||||||||||rs1044922|2782|1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA||||||||||rs1044922|4368|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA||||||||||rs1044922|2482|1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA||||||||||rs1044922|2487|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA||||||||||rs1044922|2498|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA|6/6||ENST00000657837.1:n.2570A>G||2570|||||rs1044922||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA||||||||||rs1044922|2472|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA|7/7||ENST00000659124.2:n.2884A>G||2884|||||rs1044922||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA||||||||||rs1044922|2460|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000288531|Transcript|ENST00000661463|lncRNA||||||||||rs1044922|3344|1||SNV|||YES|||||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA|8/8||ENST00000666741.2:n.2961A>G||2961|||||rs1044922||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA|8/8||ENST00000670780.1:n.6187A>G||6187|||||rs1044922||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000288531|Transcript|ENST00000671208|lncRNA||||||||||rs1044922|3343|1||SNV||||||||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||||||||||rs1044922|2498|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA||||||||||rs1044922|2487|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA|6/6||ENST00000685764.2:n.2681A>G||2681|||||rs1044922||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA||||||||||rs1044922|2489|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA||||||||||rs1044922|2485|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA|6/6||ENST00000688309.1:n.2731A>G||2731|||||rs1044922||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688420|lncRNA||||||||||rs1044922|2787|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA|7/7||ENST00000691234.2:n.2792A>G||2792|||||rs1044922||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA|7/7||ENST00000691316.1:n.2785A>G||2785|||||rs1044922||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA||||||||||rs1044922|2472|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA||||||||||rs1044922|2787|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA|7/7||ENST00000701768.1:n.2842A>G||2842|||||rs1044922||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA||||||||||rs1044922|2461|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA||||||||||rs1044922|2496|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA||||||||||rs1044922|2496|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA||||||||||rs1044922|2460|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,9:0.906:9:0,4:0,4:0,8:0,0,4,5 -chr1 856883 . A G . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|8%2C7;DP=16;ECNT=1;GERMQ=85;MBQ=0,32;MFRL=0,0;MMQ=60,21;MPOS=93;POPAF=7.3;TLOD=38.61;SRC=custom;GRP=custom;CSQ=G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA||||||||||rs1044922|2787|1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000425657|retained_intron||||||||||rs1044922|4131|1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA|5/5||ENST00000445118.7:n.4053A>G||4053|||||rs1044922||1||SNV|HGNC|HGNC:49377|YES|||1||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA||||||||||rs1044922|4869|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA||||||||||rs1044922|2496|1||SNV|HGNC|HGNC:49377||||1||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA||||||||||rs1044922|2780|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA||||||||||rs1044922|2498|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA||||||||||rs1044922|2782|1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA||||||||||rs1044922|4368|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA||||||||||rs1044922|2482|1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA||||||||||rs1044922|2487|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA||||||||||rs1044922|2498|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA|6/6||ENST00000657837.1:n.2570A>G||2570|||||rs1044922||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA||||||||||rs1044922|2472|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA|7/7||ENST00000659124.2:n.2884A>G||2884|||||rs1044922||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA||||||||||rs1044922|2460|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000288531|Transcript|ENST00000661463|lncRNA||||||||||rs1044922|3344|1||SNV|||YES|||||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA|8/8||ENST00000666741.2:n.2961A>G||2961|||||rs1044922||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA|8/8||ENST00000670780.1:n.6187A>G||6187|||||rs1044922||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000288531|Transcript|ENST00000671208|lncRNA||||||||||rs1044922|3343|1||SNV||||||||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||||||||||rs1044922|2498|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA||||||||||rs1044922|2487|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA|6/6||ENST00000685764.2:n.2681A>G||2681|||||rs1044922||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA||||||||||rs1044922|2489|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA||||||||||rs1044922|2485|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA|6/6||ENST00000688309.1:n.2731A>G||2731|||||rs1044922||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688420|lncRNA||||||||||rs1044922|2787|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA|7/7||ENST00000691234.2:n.2792A>G||2792|||||rs1044922||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA|7/7||ENST00000691316.1:n.2785A>G||2785|||||rs1044922||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA||||||||||rs1044922|2472|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA||||||||||rs1044922|2787|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA|7/7||ENST00000701768.1:n.2842A>G||2842|||||rs1044922||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA||||||||||rs1044922|2461|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA||||||||||rs1044922|2496|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA||||||||||rs1044922|2496|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA||||||||||rs1044922|2460|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,15:0.909:15:0,0:0,8:0,9:0,0,8,7 -chr1 857100 . C T . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|9%2C7;DP=16;ECNT=1;GERMQ=87;MBQ=0,32;MFRL=0,0;MMQ=60,21;MPOS=69;POPAF=7.3;TLOD=40.02;SRC=custom;GRP=custom;CSQ=T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA||||||||||rs2905036|3004|1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000425657|retained_intron||||||||||rs2905036|4348|1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA|5/5||ENST00000445118.7:n.4270C>T||4270|||||rs2905036||1||SNV|HGNC|HGNC:49377|YES|||1||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA||||||||||rs2905036|2713|1||SNV|HGNC|HGNC:49377||||1||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA||||||||||rs2905036|2997|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA||||||||||rs2905036|2715|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA||||||||||rs2905036|2999|1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA||||||||||rs2905036|4585|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA||||||||||rs2905036|2699|1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA||||||||||rs2905036|2704|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA||||||||||rs2905036|2715|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA|6/6||ENST00000657837.1:n.2787C>T||2787|||||rs2905036||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA||||||||||rs2905036|2689|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA|7/7||ENST00000659124.2:n.3101C>T||3101|||||rs2905036||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA||||||||||rs2905036|2677|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000288531|Transcript|ENST00000661463|lncRNA||||||||||rs2905036|3127|1||SNV|||YES|||||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA|8/8||ENST00000666741.2:n.3178C>T||3178|||||rs2905036||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA|8/8||ENST00000670780.1:n.6404C>T||6404|||||rs2905036||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000288531|Transcript|ENST00000671208|lncRNA||||||||||rs2905036|3126|1||SNV||||||||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||||||||||rs2905036|2715|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA||||||||||rs2905036|2704|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA|6/6||ENST00000685764.2:n.2898C>T||2898|||||rs2905036||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA||||||||||rs2905036|2706|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA||||||||||rs2905036|2702|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA|6/6||ENST00000688309.1:n.2948C>T||2948|||||rs2905036||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688420|lncRNA||||||||||rs2905036|3004|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA|7/7||ENST00000691234.2:n.3009C>T||3009|||||rs2905036||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA|7/7||ENST00000691316.1:n.3002C>T||3002|||||rs2905036||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA||||||||||rs2905036|2689|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA||||||||||rs2905036|3004|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA|7/7||ENST00000701768.1:n.3059C>T||3059|||||rs2905036||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA||||||||||rs2905036|2678|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA||||||||||rs2905036|2713|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA||||||||||rs2905036|2713|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA||||||||||rs2905036|2677|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,16:0.917:16:0,1:0,8:0,10:0,0,9,7 -chr1 857100 . C T . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|12%2C11;DP=23;ECNT=1;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,21;MPOS=97;POPAF=7.3;TLOD=59.53;SRC=custom;GRP=custom;CSQ=T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA||||||||||rs2905036|3004|1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000425657|retained_intron||||||||||rs2905036|4348|1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA|5/5||ENST00000445118.7:n.4270C>T||4270|||||rs2905036||1||SNV|HGNC|HGNC:49377|YES|||1||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA||||||||||rs2905036|2713|1||SNV|HGNC|HGNC:49377||||1||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA||||||||||rs2905036|2997|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA||||||||||rs2905036|2715|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA||||||||||rs2905036|2999|1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA||||||||||rs2905036|4585|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA||||||||||rs2905036|2699|1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA||||||||||rs2905036|2704|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA||||||||||rs2905036|2715|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA|6/6||ENST00000657837.1:n.2787C>T||2787|||||rs2905036||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA||||||||||rs2905036|2689|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA|7/7||ENST00000659124.2:n.3101C>T||3101|||||rs2905036||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA||||||||||rs2905036|2677|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000288531|Transcript|ENST00000661463|lncRNA||||||||||rs2905036|3127|1||SNV|||YES|||||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA|8/8||ENST00000666741.2:n.3178C>T||3178|||||rs2905036||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA|8/8||ENST00000670780.1:n.6404C>T||6404|||||rs2905036||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000288531|Transcript|ENST00000671208|lncRNA||||||||||rs2905036|3126|1||SNV||||||||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||||||||||rs2905036|2715|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA||||||||||rs2905036|2704|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA|6/6||ENST00000685764.2:n.2898C>T||2898|||||rs2905036||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA||||||||||rs2905036|2706|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA||||||||||rs2905036|2702|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA|6/6||ENST00000688309.1:n.2948C>T||2948|||||rs2905036||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688420|lncRNA||||||||||rs2905036|3004|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA|7/7||ENST00000691234.2:n.3009C>T||3009|||||rs2905036||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA|7/7||ENST00000691316.1:n.3002C>T||3002|||||rs2905036||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA||||||||||rs2905036|2689|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA||||||||||rs2905036|3004|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA|7/7||ENST00000701768.1:n.3059C>T||3059|||||rs2905036||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA||||||||||rs2905036|2678|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA||||||||||rs2905036|2713|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA||||||||||rs2905036|2713|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA||||||||||rs2905036|2677|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,23:0.937:23:0,2:0,12:0,14:0,0,12,11 -chr1 857234 . T C . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=7%2C10|1%2C1;DP=19;ECNT=1;GERMQ=64;MBQ=33,34;MFRL=0,0;MMQ=24,23;MPOS=40;POPAF=7.3;TLOD=3.43;SRC=custom;GRP=custom;CSQ=C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA|||||||||||3138|1||SNV|HGNC|HGNC:49377||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000425657|retained_intron|||||||||||4482|1||SNV|HGNC|HGNC:49377||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA|5/5||ENST00000445118.7:n.4404T>C||4404|||||||1||SNV|HGNC|HGNC:49377|YES|||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA|||||||||||2847|1||SNV|HGNC|HGNC:49377||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA|||||||||||3131|1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA|||||||||||2849|1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA|||||||||||3133|1||SNV|HGNC|HGNC:49377||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA|||||||||||4719|1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA|||||||||||2833|1||SNV|HGNC|HGNC:49377||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA|||||||||||2838|1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA|||||||||||2849|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA|6/6||ENST00000657837.1:n.2921T>C||2921|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA|||||||||||2823|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA|7/7||ENST00000659124.2:n.3235T>C||3235|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA|||||||||||2811|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000288531|Transcript|ENST00000661463|lncRNA|||||||||||2993|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA|8/8||ENST00000666741.2:n.3312T>C||3312|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA|8/8||ENST00000670780.1:n.6538T>C||6538|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000288531|Transcript|ENST00000671208|lncRNA|||||||||||2992|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA|||||||||||2849|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA|||||||||||2838|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA|6/6||ENST00000685764.2:n.3032T>C||3032|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA|||||||||||2840|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA|||||||||||2836|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA|6/6||ENST00000688309.1:n.3082T>C||3082|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688420|lncRNA|||||||||||3138|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA|||||||||||46|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA|||||||||||44|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA|||||||||||2823|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA|||||||||||3138|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA|||||||||||96|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA|||||||||||2812|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA|||||||||||2847|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA|||||||||||2847|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA|||||||||||2811|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:17,2:0.154:19:3,0:7,1:10,1:7,10,1,1 -chr1 859348 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C2|1%2C1;DP=5;ECNT=1;GERMQ=38;MBQ=33,24;MFRL=0,0;MMQ=43,36;MPOS=113;POPAF=7.3;TLOD=3.75;SRC=custom;GRP=custom;CSQ=C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA|5/5||ENST00000445118.7:n.6518T>C||6518|||||rs1248696762||1||SNV|HGNC|HGNC:49377|YES|||1|||||||||||||||||||||||||||||0.0001117|0|0|0.001112|0|0|0|0|0|0|0|0.001112|gnomADg_AMR|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA||||||||||rs1248696762|4961|1||SNV|HGNC|HGNC:49377||||1|||||||||||||||||||||||||||||0.0001117|0|0|0.001112|0|0|0|0|0|0|0|0.001112|gnomADg_AMR|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA||||||||||rs1248696762|4963|1||SNV|HGNC|HGNC:49377||||5|||||||||||||||||||||||||||||0.0001117|0|0|0.001112|0|0|0|0|0|0|0|0.001112|gnomADg_AMR|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA||||||||||rs1248696762|4947|1||SNV|HGNC|HGNC:49377||||4|||||||||||||||||||||||||||||0.0001117|0|0|0.001112|0|0|0|0|0|0|0|0.001112|gnomADg_AMR|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA||||||||||rs1248696762|4952|1||SNV|HGNC|HGNC:49377||||5|||||||||||||||||||||||||||||0.0001117|0|0|0.001112|0|0|0|0|0|0|0|0.001112|gnomADg_AMR|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA||||||||||rs1248696762|4963|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.0001117|0|0|0.001112|0|0|0|0|0|0|0|0.001112|gnomADg_AMR|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA||||||||||rs1248696762|2102|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.0001117|0|0|0.001112|0|0|0|0|0|0|0|0.001112|gnomADg_AMR|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA||||||||||rs1248696762|4937|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.0001117|0|0|0.001112|0|0|0|0|0|0|0|0.001112|gnomADg_AMR|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA||||||||||rs1248696762|16|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.0001117|0|0|0.001112|0|0|0|0|0|0|0|0.001112|gnomADg_AMR|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA||||||||||rs1248696762|4925|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.0001117|0|0|0.001112|0|0|0|0|0|0|0|0.001112|gnomADg_AMR|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000288531|Transcript|ENST00000661463|lncRNA||||||||||rs1248696762|879|1||SNV|||YES||||||||||||||||||||||||||||||||0.0001117|0|0|0.001112|0|0|0|0|0|0|0|0.001112|gnomADg_AMR|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA|8/8||ENST00000666741.2:n.5426T>C||5426|||||rs1248696762||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.0001117|0|0|0.001112|0|0|0|0|0|0|0|0.001112|gnomADg_AMR|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA||||||||||rs1248696762|263|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.0001117|0|0|0.001112|0|0|0|0|0|0|0|0.001112|gnomADg_AMR|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000288531|Transcript|ENST00000671208|lncRNA||||||||||rs1248696762|878|1||SNV|||||||||||||||||||||||||||||||||||0.0001117|0|0|0.001112|0|0|0|0|0|0|0|0.001112|gnomADg_AMR|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||||||||||rs1248696762|4963|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.0001117|0|0|0.001112|0|0|0|0|0|0|0|0.001112|gnomADg_AMR|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA||||||||||rs1248696762|4952|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.0001117|0|0|0.001112|0|0|0|0|0|0|0|0.001112|gnomADg_AMR|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA||||||||||rs1248696762|1443|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.0001117|0|0|0.001112|0|0|0|0|0|0|0|0.001112|gnomADg_AMR|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA||||||||||rs1248696762|4954|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.0001117|0|0|0.001112|0|0|0|0|0|0|0|0.001112|gnomADg_AMR|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA||||||||||rs1248696762|4950|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.0001117|0|0|0.001112|0|0|0|0|0|0|0|0.001112|gnomADg_AMR|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA||||||||||rs1248696762|2102|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.0001117|0|0|0.001112|0|0|0|0|0|0|0|0.001112|gnomADg_AMR|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA||||||||||rs1248696762|2160|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.0001117|0|0|0.001112|0|0|0|0|0|0|0|0.001112|gnomADg_AMR|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA||||||||||rs1248696762|2158|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.0001117|0|0|0.001112|0|0|0|0|0|0|0|0.001112|gnomADg_AMR|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA||||||||||rs1248696762|4937|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.0001117|0|0|0.001112|0|0|0|0|0|0|0|0.001112|gnomADg_AMR|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA||||||||||rs1248696762|2210|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.0001117|0|0|0.001112|0|0|0|0|0|0|0|0.001112|gnomADg_AMR|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA||||||||||rs1248696762|4926|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.0001117|0|0|0.001112|0|0|0|0|0|0|0|0.001112|gnomADg_AMR|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA||||||||||rs1248696762|4961|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.0001117|0|0|0.001112|0|0|0|0|0|0|0|0.001112|gnomADg_AMR|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA||||||||||rs1248696762|4961|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.0001117|0|0|0.001112|0|0|0|0|0|0|0|0.001112|gnomADg_AMR|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA||||||||||rs1248696762|4925|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.0001117|0|0|0.001112|0|0|0|0|0|0|0|0.001112|gnomADg_AMR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,2:0.4:5:1,0:1,0:2,1:1,2,1,1 -chr1 897018 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,35;MFRL=0,0;MMQ=60,45;MPOS=106;POPAF=7.3;TLOD=7.05;SRC=custom;GRP=custom;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs4553118||||SNV||||||||||||||||||||0.8191|0.9327|0.755|0.8571|0.7306|0.7628||||||||||0.7832|0.909|0.6524|0.7547|0.7261|0.8765|0.6447|0.8101|0.7315|0.7884|0.7831|0.9327|AFR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 901763 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C1;DP=4;ECNT=1;GERMQ=37;MBQ=34,34;MFRL=0,0;MMQ=60,60;MPOS=43;POPAF=7.3;TLOD=6.88;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||||||||||rs1640317824|3071|1||SNV|||YES|||4|||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.5:4:0,0:1,1:1,1:1,1,1,1 -chr1 902641 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=73;POPAF=7.3;TLOD=7.02;SRC=custom;GRP=custom;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||||||||||rs1640332690|2193|1||SNV|||YES|||4|||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 903007 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=2;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=51;POPAF=7.3;TLOD=7.45;SRC=custom;GRP=custom;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||||||||||rs4970384|1827|1||SNV|||YES|||4||||||||||||||0.2081|0.2269|0.2133|0.1518|0.2087|0.2362||||||||||0.2121|0.215|0.2675|0.2069|0.2677|0.1357|0.2515|0.2247|0.2071|0.21|0.2177|0.2677|gnomADg_ASJ||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 903011 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=135;POPAF=7.3;TLOD=3.28;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA|||||||||||1823|1||SNV|||YES|||4|||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 904947 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C2|2%2C2;DP=9;ECNT=1;GERMQ=37;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=116;POPAF=7.3;TLOD=13.03;SRC=custom;GRP=custom;CSQ=A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA|1/2||ENST00000607769.1:n.114G>A||114|||||rs28625089||1||SNV|||YES|||4||||||||||||||0.1591|0.0477|0.2061|0.1508|0.2087|0.2342||||||||||0.1637|0.05947|0.2693|0.1897|0.2601|0.1296|0.2269|0.1911|0.2043|0.1709|0.2085|0.2693|gnomADg_AMI|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344419|CTCF_binding_site||||||||||rs28625089||||SNV||||||||||||||||||||0.1591|0.0477|0.2061|0.1508|0.2087|0.2342||||||||||0.1637|0.05947|0.2693|0.1897|0.2601|0.1296|0.2269|0.1911|0.2043|0.1709|0.2085|0.2693|gnomADg_AMI|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918364|promoter||||||||||rs28625089||||SNV||||||||||||||||||||0.1591|0.0477|0.2061|0.1508|0.2087|0.2342||||||||||0.1637|0.05947|0.2693|0.1897|0.2601|0.1296|0.2269|0.1911|0.2043|0.1709|0.2085|0.2693|gnomADg_AMI|||||||||||||,A|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00000340071|||||||||||rs28625089||1||SNV||||||||||||||||||||0.1591|0.0477|0.2061|0.1508|0.2087|0.2342||||||||||0.1637|0.05947|0.2693|0.1897|0.2601|0.1296|0.2269|0.1911|0.2043|0.1709|0.2085|0.2693|gnomADg_AMI|||||ENSPFM0238|1|N|-0.006|GCM1::MAX||||,A|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00000344552|||||||||||rs28625089||1||SNV||||||||||||||||||||0.1591|0.0477|0.2061|0.1508|0.2087|0.2342||||||||||0.1637|0.05947|0.2693|0.1897|0.2601|0.1296|0.2269|0.1911|0.2043|0.1709|0.2085|0.2693|gnomADg_AMI|||||ENSPFM0595|3|N|-0.033|TFAP2C::MAX||||,A|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00522325566|||||||||||rs28625089||1||SNV||||||||||||||||||||0.1591|0.0477|0.2061|0.1508|0.2087|0.2342||||||||||0.1637|0.05947|0.2693|0.1897|0.2601|0.1296|0.2269|0.1911|0.2043|0.1709|0.2085|0.2693|gnomADg_AMI|||||ENSPFM0596|4|N|-0.033|TFAP2C::MAX||||,A|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00525811883|||||||||||rs28625089||-1||SNV||||||||||||||||||||0.1591|0.0477|0.2061|0.1508|0.2087|0.2342||||||||||0.1637|0.05947|0.2693|0.1897|0.2601|0.1296|0.2269|0.1911|0.2043|0.1709|0.2085|0.2693|gnomADg_AMI|||||ENSPFM0130|1|N|-0.027|ESRRA&ESRRG|||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:5,4:0.429:9:0,0:3,2:3,2:3,2,2,2 -chr1 905705 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C4|2%2C3;DP=13;ECNT=1;GERMQ=37;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=89;POPAF=7.3;TLOD=16.64;SRC=custom;GRP=custom;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.124+748C>G|||||||rs1574243||1||SNV|||YES|||4||||||||||||||0.3363|0.3585|0.2695|0.4266|0.2276|0.3722||||||||||0.2818|0.3488|0.261|0.251|0.2656|0.4164|0.2976|0.2373|0.2325|0.2596|0.3475|0.4266|EAS||||29071737|||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918364|promoter||||||||||rs1574243||||SNV||||||||||||||||||||0.3363|0.3585|0.2695|0.4266|0.2276|0.3722||||||||||0.2818|0.3488|0.261|0.251|0.2656|0.4164|0.2976|0.2373|0.2325|0.2596|0.3475|0.4266|EAS||||29071737||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,5:0.444:12:1,0:3,2:4,3:3,4,2,3 -chr1 905705 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C2|1%2C2;DP=8;ECNT=1;GERMQ=38;MBQ=32,34;MFRL=0,0;MMQ=60,60;MPOS=119;POPAF=7.3;TLOD=9.48;SRC=custom;GRP=custom;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.124+748C>G|||||||rs1574243||1||SNV|||YES|||4||||||||||||||0.3363|0.3585|0.2695|0.4266|0.2276|0.3722||||||||||0.2818|0.3488|0.261|0.251|0.2656|0.4164|0.2976|0.2373|0.2325|0.2596|0.3475|0.4266|EAS||||29071737|||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918364|promoter||||||||||rs1574243||||SNV||||||||||||||||||||0.3363|0.3585|0.2695|0.4266|0.2276|0.3722||||||||||0.2818|0.3488|0.261|0.251|0.2656|0.4164|0.2976|0.2373|0.2325|0.2596|0.3475|0.4266|EAS||||29071737||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:5,3:0.5:8:0,1:3,1:3,3:3,2,1,2 -chr1 906122 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=9%2C11|1%2C1;DP=22;ECNT=1;GERMQ=71;MBQ=31,33;MFRL=0,0;MMQ=60,60;MPOS=109;POPAF=7.3;TLOD=5.36;SRC=custom;GRP=custom;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.124+1165C>T|||||||||1||SNV|||YES|||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000100|promoter||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:20,2:0.143:22:2,0:8,1:11,1:9,11,1,1 -chr1 906535 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=11%2C11|1%2C1;DP=24;ECNT=2;GERMQ=76;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=125;POPAF=7.3;TLOD=5.14;SRC=custom;GRP=custom;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA|||||||||||4900|1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.124+1578T>C|||||||||1||SNV|||YES|||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344418|promoter||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:22,2:0.126:24:1,0:10,1:13,1:11,11,1,1 -chr1 906633 . T G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C3|2%2C2;DP=12;ECNT=2;GERMQ=37;MBQ=31,34;MFRL=0,0;MMQ=60,60;MPOS=78;POPAF=7.3;TLOD=12.47;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs7419119|4802|1||SNV|||YES|||2||||||||||||||0.1855|0.1407|0.2219|0.1488|0.2117|0.2311||||||||||0.1911|0.1387|0.2675|0.2032|0.2623|0.133|0.2459|0.2184|0.2089|0.1992|0.2139|0.2675|gnomADg_AMI||||36586123|||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.124+1676T>G|||||||rs7419119||1||SNV|||YES|||4||||||||||||||0.1855|0.1407|0.2219|0.1488|0.2117|0.2311||||||||||0.1911|0.1387|0.2675|0.2032|0.2623|0.133|0.2459|0.2184|0.2089|0.1992|0.2139|0.2675|gnomADg_AMI||||36586123|||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344418|promoter||||||||||rs7419119||||SNV||||||||||||||||||||0.1855|0.1407|0.2219|0.1488|0.2117|0.2311||||||||||0.1911|0.1387|0.2675|0.2032|0.2623|0.133|0.2459|0.2184|0.2089|0.1992|0.2139|0.2675|gnomADg_AMI||||36586123|||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344420|CTCF_binding_site||||||||||rs7419119||||SNV||||||||||||||||||||0.1855|0.1407|0.2219|0.1488|0.2117|0.2311||||||||||0.1911|0.1387|0.2675|0.2032|0.2623|0.133|0.2459|0.2184|0.2089|0.1992|0.2139|0.2675|gnomADg_AMI||||36586123||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,4:0.427:10:0,0:3,2:3,2:3,3,2,2 -chr1 906982 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|8%2C8;DP=17;ECNT=2;GERMQ=87;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=40;POPAF=7.3;TLOD=64.21;SRC=custom;GRP=custom;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs28540380|4453|1||SNV|||YES|||2||||||||||||||0.2192|0.2443|0.2248|0.1508|0.2237|0.2474||||||||||0.2294|0.2471|0.2868|0.2153|0.2298|0.1335|0.2526|0.2197|0.2254|0.2172|0.2259|0.2868|gnomADg_AMI|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.124+2025C>T|||||||rs28540380||1||SNV|||YES|||4||||||||||||||0.2192|0.2443|0.2248|0.1508|0.2237|0.2474||||||||||0.2294|0.2471|0.2868|0.2153|0.2298|0.1335|0.2526|0.2197|0.2254|0.2172|0.2259|0.2868|gnomADg_AMI|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344418|promoter||||||||||rs28540380||||SNV||||||||||||||||||||0.2192|0.2443|0.2248|0.1508|0.2237|0.2474||||||||||0.2294|0.2471|0.2868|0.2153|0.2298|0.1335|0.2526|0.2197|0.2254|0.2172|0.2259|0.2868|gnomADg_AMI|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344420|CTCF_binding_site||||||||||rs28540380||||SNV||||||||||||||||||||0.2192|0.2443|0.2248|0.1508|0.2237|0.2474||||||||||0.2294|0.2471|0.2868|0.2153|0.2298|0.1335|0.2526|0.2197|0.2254|0.2172|0.2259|0.2868|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,16:0.909:16:0,0:0,8:0,9:0|1:906982_C_T:906982:0,0,8,8 -chr1 906982 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|10%2C8;DP=19;ECNT=2;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=45;POPAF=7.3;TLOD=74.34;SRC=custom;GRP=custom;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs28540380|4453|1||SNV|||YES|||2||||||||||||||0.2192|0.2443|0.2248|0.1508|0.2237|0.2474||||||||||0.2294|0.2471|0.2868|0.2153|0.2298|0.1335|0.2526|0.2197|0.2254|0.2172|0.2259|0.2868|gnomADg_AMI|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.124+2025C>T|||||||rs28540380||1||SNV|||YES|||4||||||||||||||0.2192|0.2443|0.2248|0.1508|0.2237|0.2474||||||||||0.2294|0.2471|0.2868|0.2153|0.2298|0.1335|0.2526|0.2197|0.2254|0.2172|0.2259|0.2868|gnomADg_AMI|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344418|promoter||||||||||rs28540380||||SNV||||||||||||||||||||0.2192|0.2443|0.2248|0.1508|0.2237|0.2474||||||||||0.2294|0.2471|0.2868|0.2153|0.2298|0.1335|0.2526|0.2197|0.2254|0.2172|0.2259|0.2868|gnomADg_AMI|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344420|CTCF_binding_site||||||||||rs28540380||||SNV||||||||||||||||||||0.2192|0.2443|0.2248|0.1508|0.2237|0.2474||||||||||0.2294|0.2471|0.2868|0.2153|0.2298|0.1335|0.2526|0.2197|0.2254|0.2172|0.2259|0.2868|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,18:0.919:18:0,0:0,10:0,10:0|1:906982_C_T:906982:0,0,10,8 -chr1 907022 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C4|5%2C4;DP=16;ECNT=2;GERMQ=35;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=89;POPAF=7.3;TLOD=29.02;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA|||||||||||4413|1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.124+2065C>A|||||||||1||SNV|||YES|||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344418|promoter||||||||||||||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM01051891671|||||||||||||1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||ENSPFM0086|6|Y|-0.079|EGR1&EGR2&EGR4&EGR3|||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:7,9:0.583:16:0,0:3,5:4,6:0|1:906982_C_T:906982:3,4,5,4 -chr1 907022 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5%2C7|3%2C4;DP=19;ECNT=2;GERMQ=38;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=72;POPAF=7.3;TLOD=21.74;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA|||||||||||4413|1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.124+2065C>A|||||||||1||SNV|||YES|||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344418|promoter||||||||||||||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM01051891671|||||||||||||1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||ENSPFM0086|6|Y|-0.079|EGR1&EGR2&EGR4&EGR3|||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:12,7:0.385:19:0,0:5,3:7,4:0|1:906982_C_T:906982:5,7,3,4 -chr1 907445 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=91;POPAF=7.3;TLOD=7.35;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs7519340|3990|1||SNV|||YES|||2||||||||||||||0.9720|0.8979|0.9928|1|1|1||||||||||0.9725|0.9035|1|0.9906|1|1|1|0.9905|0.9996|0.9807|1|1|EAS&EUR&SAS&gnomADg_AMI&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_SAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.124+2488A>G|||||||rs7519340||1||SNV|||YES|||4||||||||||||||0.9720|0.8979|0.9928|1|1|1||||||||||0.9725|0.9035|1|0.9906|1|1|1|0.9905|0.9996|0.9807|1|1|EAS&EUR&SAS&gnomADg_AMI&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_SAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 907445 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=126;POPAF=7.3;TLOD=3.48;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs7519340|3990|1||SNV|||YES|||2||||||||||||||0.9720|0.8979|0.9928|1|1|1||||||||||0.9725|0.9035|1|0.9906|1|1|1|0.9905|0.9996|0.9807|1|1|EAS&EUR&SAS&gnomADg_AMI&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_SAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.124+2488A>G|||||||rs7519340||1||SNV|||YES|||4||||||||||||||0.9720|0.8979|0.9928|1|1|1||||||||||0.9725|0.9035|1|0.9906|1|1|1|0.9905|0.9996|0.9807|1|1|EAS&EUR&SAS&gnomADg_AMI&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_SAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,0:0,1:0,0,0,1 -chr1 908025 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C2|3%2C2;DP=9;ECNT=1;GERMQ=36;MBQ=31,32;MFRL=0,0;MMQ=60,60;MPOS=64;POPAF=7.3;TLOD=16.71;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs11516185|3410|1||SNV|||YES|||2||||||||||||||0.3754|0.3517|0.3847|0.4206|0.3757|0.3538||||||||||0.3747|0.3434|0.3066|0.3993|0.2753|0.4474|0.4283|0.2468|0.3818|0.3587|0.3691|0.4474|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.124+3068A>G|||||||rs11516185||1||SNV|||YES|||4||||||||||||||0.3754|0.3517|0.3847|0.4206|0.3757|0.3538||||||||||0.3747|0.3434|0.3066|0.3993|0.2753|0.4474|0.4283|0.2468|0.3818|0.3587|0.3691|0.4474|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,5:0.571:9:0,0:2,3:2,3:2,2,3,2 -chr1 908025 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=7%2C7|2%2C4;DP=21;ECNT=1;GERMQ=42;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=65;POPAF=7.3;TLOD=19.08;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs11516185|3410|1||SNV|||YES|||2||||||||||||||0.3754|0.3517|0.3847|0.4206|0.3757|0.3538||||||||||0.3747|0.3434|0.3066|0.3993|0.2753|0.4474|0.4283|0.2468|0.3818|0.3587|0.3691|0.4474|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.124+3068A>G|||||||rs11516185||1||SNV|||YES|||4||||||||||||||0.3754|0.3517|0.3847|0.4206|0.3757|0.3538||||||||||0.3747|0.3434|0.3066|0.3993|0.2753|0.4474|0.4283|0.2468|0.3818|0.3587|0.3691|0.4474|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:14,6:0.361:20:0,0:6,2:8,4:7,7,2,4 -chr1 908285 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C5|1%2C1;DP=9;ECNT=1;GERMQ=43;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=24;POPAF=7.3;TLOD=5.7;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA|||||||||||3150|1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.124+3328A>G|||||||||1||SNV|||YES|||4|||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,2:0.25:9:2,0:2,1:5,1:2,5,1,1 -chr1 909894 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|2%2C2;DP=6;ECNT=2;GERMQ=36;MBQ=34,31;MFRL=0,0;MMQ=60,60;MPOS=83;POPAF=7.3;TLOD=13.23;SRC=custom;GRP=custom;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs112856858|4277|1||SNV|||YES|||3||||||||||||||0.3740|0.584|0.2911|0.3512|0.1948|0.3569||||||||||0.3094|0.5322|0.3639|0.2777|0.2118|0.3481|0.2075|0.2468|0.2016|0.2945|0.3286|0.584|AFR|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs112856858|1541|1||SNV|||YES|||2||||||||||||||0.3740|0.584|0.2911|0.3512|0.1948|0.3569||||||||||0.3094|0.5322|0.3639|0.2777|0.2118|0.3481|0.2075|0.2468|0.2016|0.2945|0.3286|0.584|AFR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.124+4937G>T|||||||rs112856858||1||SNV|||YES|||4||||||||||||||0.3740|0.584|0.2911|0.3512|0.1948|0.3569||||||||||0.3094|0.5322|0.3639|0.2777|0.2118|0.3481|0.2075|0.2468|0.2016|0.2945|0.3286|0.584|AFR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:2,4:0.6:6:0,0:1,2:1,2:0|1:909894_G_T:909894:1,1,2,2 -chr1 909903 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C3;DP=6;ECNT=2;GERMQ=58;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=88;POPAF=7.3;TLOD=24.95;SRC=custom;GRP=custom;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs7366404|4268|1||SNV|||YES|||3||||||||||||||0.7580|0.7753|0.7363|0.6181|0.8002|0.8507||||||||||0.7888|0.7816|0.8386|0.746|0.8258|0.6494|0.7532|0.7229|0.8125|0.7866|0.8413|0.8507|SAS|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs7366404|1532|1||SNV|||YES|||2||||||||||||||0.7580|0.7753|0.7363|0.6181|0.8002|0.8507||||||||||0.7888|0.7816|0.8386|0.746|0.8258|0.6494|0.7532|0.7229|0.8125|0.7866|0.8413|0.8507|SAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.124+4946G>T|||||||rs7366404||1||SNV|||YES|||4||||||||||||||0.7580|0.7753|0.7363|0.6181|0.8002|0.8507||||||||||0.7888|0.7816|0.8386|0.746|0.8258|0.6494|0.7532|0.7229|0.8125|0.7866|0.8413|0.8507|SAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,6:0.8:6:0,0:0,3:0,3:0|1:909894_G_T:909894:0,0,3,3 -chr1 910255 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|3%2C2;DP=7;ECNT=1;GERMQ=37;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=20;POPAF=7.3;TLOD=16.78;SRC=custom;GRP=custom;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs117086422|3916|1||SNV|||YES|||3||||||||||||||0.1585|0.0582|0.232|0.1101|0.1869|0.2628||||||||||0.1674|0.07101|0.3639|0.2171|0.1976|0.1003|0.2169|0.1859|0.202|0.1778|0.2484|0.3639|gnomADg_AMI|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs117086422|1180|1||SNV|||YES|||2||||||||||||||0.1585|0.0582|0.232|0.1101|0.1869|0.2628||||||||||0.1674|0.07101|0.3639|0.2171|0.1976|0.1003|0.2169|0.1859|0.202|0.1778|0.2484|0.3639|gnomADg_AMI|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.124+5298C>T|||||||rs117086422||1||SNV|||YES|||4||||||||||||||0.1585|0.0582|0.232|0.1101|0.1869|0.2628||||||||||0.1674|0.07101|0.3639|0.2171|0.1976|0.1003|0.2169|0.1859|0.202|0.1778|0.2484|0.3639|gnomADg_AMI|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344422|promoter||||||||||rs117086422||||SNV||||||||||||||||||||0.1585|0.0582|0.232|0.1101|0.1869|0.2628||||||||||0.1674|0.07101|0.3639|0.2171|0.1976|0.1003|0.2169|0.1859|0.202|0.1778|0.2484|0.3639|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,5:0.667:7:0,0:1,3:1,3:1,1,3,2 -chr1 910462 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4%2C5|1%2C1;DP=12;ECNT=1;GERMQ=47;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=128;POPAF=7.3;TLOD=5.71;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs372987778|3709|1||SNV|||YES|||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs372987778|973|1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.125-5288G>A|||||||rs372987778||1||SNV|||YES|||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344422|promoter||||||||||rs372987778||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:9,2:0.222:11:1,0:4,1:6,1:4,5,1,1 -chr1 910558 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=6%2C5|3%2C3;DP=17;ECNT=1;GERMQ=39;MBQ=35,33;MFRL=0,0;MMQ=60,60;MPOS=60;POPAF=7.3;TLOD=16.9;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs57760052|3613|1||SNV|||YES|||3||||||||||||||0.3634|0.5378|0.2968|0.3512|0.1968|0.3589||||||||||0.3082|0.4976|0.3681|0.2838|0.2206|0.3552|0.2185|0.2643|0.2113|0.2965|0.334|0.5378|AFR|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs57760052|877|1||SNV|||YES|||2||||||||||||||0.3634|0.5378|0.2968|0.3512|0.1968|0.3589||||||||||0.3082|0.4976|0.3681|0.2838|0.2206|0.3552|0.2185|0.2643|0.2113|0.2965|0.334|0.5378|AFR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.125-5192G>A|||||||rs57760052||1||SNV|||YES|||4||||||||||||||0.3634|0.5378|0.2968|0.3512|0.1968|0.3589||||||||||0.3082|0.4976|0.3681|0.2838|0.2206|0.3552|0.2185|0.2643|0.2113|0.2965|0.334|0.5378|AFR|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344422|promoter||||||||||rs57760052||||SNV||||||||||||||||||||0.3634|0.5378|0.2968|0.3512|0.1968|0.3589||||||||||0.3082|0.4976|0.3681|0.2838|0.2206|0.3552|0.2185|0.2643|0.2113|0.2965|0.334|0.5378|AFR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:11,6:0.498:17:0,1:5,3:5,5:6,5,3,3 -chr1 910558 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|2%2C3;DP=7;ECNT=1;GERMQ=38;MBQ=35,33;MFRL=0,0;MMQ=60,60;MPOS=120;POPAF=7.3;TLOD=17.04;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs57760052|3613|1||SNV|||YES|||3||||||||||||||0.3634|0.5378|0.2968|0.3512|0.1968|0.3589||||||||||0.3082|0.4976|0.3681|0.2838|0.2206|0.3552|0.2185|0.2643|0.2113|0.2965|0.334|0.5378|AFR|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs57760052|877|1||SNV|||YES|||2||||||||||||||0.3634|0.5378|0.2968|0.3512|0.1968|0.3589||||||||||0.3082|0.4976|0.3681|0.2838|0.2206|0.3552|0.2185|0.2643|0.2113|0.2965|0.334|0.5378|AFR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.125-5192G>A|||||||rs57760052||1||SNV|||YES|||4||||||||||||||0.3634|0.5378|0.2968|0.3512|0.1968|0.3589||||||||||0.3082|0.4976|0.3681|0.2838|0.2206|0.3552|0.2185|0.2643|0.2113|0.2965|0.334|0.5378|AFR|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344422|promoter||||||||||rs57760052||||SNV||||||||||||||||||||0.3634|0.5378|0.2968|0.3512|0.1968|0.3589||||||||||0.3082|0.4976|0.3681|0.2838|0.2206|0.3552|0.2185|0.2643|0.2113|0.2965|0.334|0.5378|AFR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,5:0.667:7:0,1:1,2:1,3:1,1,2,3 -chr1 910698 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C2|1%2C2;DP=7;ECNT=1;GERMQ=37;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=93;POPAF=7.3;TLOD=9.55;SRC=custom;GRP=custom;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs28612348|3473|1||SNV|||YES|||3||||||||||||||0.1617|0.0719|0.232|0.1131|0.1799|0.2648||||||||||0.1669|0.09362|0.3337|0.2171|0.1979|0.1046|0.1831|0.212|0.1923|0.1789|0.2503|0.3337|gnomADg_AMI|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs28612348|737|1||SNV|||YES|||2||||||||||||||0.1617|0.0719|0.232|0.1131|0.1799|0.2648||||||||||0.1669|0.09362|0.3337|0.2171|0.1979|0.1046|0.1831|0.212|0.1923|0.1789|0.2503|0.3337|gnomADg_AMI|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.125-5052C>T|||||||rs28612348||1||SNV|||YES|||4||||||||||||||0.1617|0.0719|0.232|0.1131|0.1799|0.2648||||||||||0.1669|0.09362|0.3337|0.2171|0.1979|0.1046|0.1831|0.212|0.1923|0.1789|0.2503|0.3337|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,3:0.571:7:0,1:2,1:2,3:2,2,1,2 -chr1 910698 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5%2C4|1%2C2;DP=12;ECNT=1;GERMQ=43;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=126;POPAF=7.3;TLOD=9.11;SRC=custom;GRP=custom;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs28612348|3473|1||SNV|||YES|||3||||||||||||||0.1617|0.0719|0.232|0.1131|0.1799|0.2648||||||||||0.1669|0.09362|0.3337|0.2171|0.1979|0.1046|0.1831|0.212|0.1923|0.1789|0.2503|0.3337|gnomADg_AMI|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs28612348|737|1||SNV|||YES|||2||||||||||||||0.1617|0.0719|0.232|0.1131|0.1799|0.2648||||||||||0.1669|0.09362|0.3337|0.2171|0.1979|0.1046|0.1831|0.212|0.1923|0.1789|0.2503|0.3337|gnomADg_AMI|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.125-5052C>T|||||||rs28612348||1||SNV|||YES|||4||||||||||||||0.1617|0.0719|0.232|0.1131|0.1799|0.2648||||||||||0.1669|0.09362|0.3337|0.2171|0.1979|0.1046|0.1831|0.212|0.1923|0.1789|0.2503|0.3337|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:9,3:0.333:12:0,1:5,1:5,2:5,4,1,2 -chr1 910958 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|7%2C4;DP=11;ECNT=5;GERMQ=72;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=58;POPAF=7.3;TLOD=42.05;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs4970334|3213|1||SNV|||YES|||3||||||||||||||0.7147|0.6241|0.7291|0.6101|0.8002|0.8466||||||||||0.7498|0.6463|0.8377|0.7351|0.8256|0.6444|0.7533|0.7152|0.8118|0.7615|0.8402|0.8466|SAS|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs4970334|477|1||SNV|||YES|||2||||||||||||||0.7147|0.6241|0.7291|0.6101|0.8002|0.8466||||||||||0.7498|0.6463|0.8377|0.7351|0.8256|0.6444|0.7533|0.7152|0.8118|0.7615|0.8402|0.8466|SAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.125-4792A>G|||||||rs4970334||1||SNV|||YES|||4||||||||||||||0.7147|0.6241|0.7291|0.6101|0.8002|0.8466||||||||||0.7498|0.6463|0.8377|0.7351|0.8256|0.6444|0.7533|0.7152|0.8118|0.7615|0.8402|0.8466|SAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,11:0.889:11:0,0:0,7:0,7:0,0,7,4 -chr1 910958 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C5;DP=10;ECNT=2;GERMQ=67;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=86;POPAF=7.3;TLOD=30.12;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs4970334|3213|1||SNV|||YES|||3||||||||||||||0.7147|0.6241|0.7291|0.6101|0.8002|0.8466||||||||||0.7498|0.6463|0.8377|0.7351|0.8256|0.6444|0.7533|0.7152|0.8118|0.7615|0.8402|0.8466|SAS|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs4970334|477|1||SNV|||YES|||2||||||||||||||0.7147|0.6241|0.7291|0.6101|0.8002|0.8466||||||||||0.7498|0.6463|0.8377|0.7351|0.8256|0.6444|0.7533|0.7152|0.8118|0.7615|0.8402|0.8466|SAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.125-4792A>G|||||||rs4970334||1||SNV|||YES|||4||||||||||||||0.7147|0.6241|0.7291|0.6101|0.8002|0.8466||||||||||0.7498|0.6463|0.8377|0.7351|0.8256|0.6444|0.7533|0.7152|0.8118|0.7615|0.8402|0.8466|SAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,9:0.864:9:0,1:0,4:0,5:0,0,4,5 -chr1 911018 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=4%2C3|6%2C5;DP=18;ECNT=5;GERMQ=35;MBQ=35,31;MFRL=0,0;MMQ=60,60;MPOS=24;POPAF=7.3;TLOD=33.25;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs58781670|3153|1||SNV|||YES|||3||||||||||||||0.3550|0.5106|0.2911|0.3512|0.1948|0.3589||||||||||0.2917|0.4624|0.2841|0.2767|0.2122|0.3564|0.1977|0.242|0.203|0.2845|0.3289|0.5106|AFR|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs58781670|417|1||SNV|||YES|||2||||||||||||||0.3550|0.5106|0.2911|0.3512|0.1948|0.3589||||||||||0.2917|0.4624|0.2841|0.2767|0.2122|0.3564|0.1977|0.242|0.203|0.2845|0.3289|0.5106|AFR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.125-4732G>A|||||||rs58781670||1||SNV|||YES|||4||||||||||||||0.3550|0.5106|0.2911|0.3512|0.1948|0.3589||||||||||0.2917|0.4624|0.2841|0.2767|0.2122|0.3564|0.1977|0.242|0.203|0.2845|0.3289|0.5106|AFR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,11:0.583:18:1,0:3,6:4,6:4,3,6,5 -chr1 911018 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C3|3%2C4;DP=13;ECNT=2;GERMQ=35;MBQ=35,33;MFRL=0,0;MMQ=60,60;MPOS=52;POPAF=7.3;TLOD=22.79;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs58781670|3153|1||SNV|||YES|||3||||||||||||||0.3550|0.5106|0.2911|0.3512|0.1948|0.3589||||||||||0.2917|0.4624|0.2841|0.2767|0.2122|0.3564|0.1977|0.242|0.203|0.2845|0.3289|0.5106|AFR|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs58781670|417|1||SNV|||YES|||2||||||||||||||0.3550|0.5106|0.2911|0.3512|0.1948|0.3589||||||||||0.2917|0.4624|0.2841|0.2767|0.2122|0.3564|0.1977|0.242|0.203|0.2845|0.3289|0.5106|AFR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.125-4732G>A|||||||rs58781670||1||SNV|||YES|||4||||||||||||||0.3550|0.5106|0.2911|0.3512|0.1948|0.3589||||||||||0.2917|0.4624|0.2841|0.2767|0.2122|0.3564|0.1977|0.242|0.203|0.2845|0.3289|0.5106|AFR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,7:0.555:13:0,0:3,3:3,4:3,3,3,4 -chr1 911033 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=9%2C8|1%2C1;DP=19;ECNT=5;GERMQ=64;MBQ=34,32;MFRL=0,0;MMQ=60,60;MPOS=140;POPAF=7.3;TLOD=5.31;SRC=custom;GRP=custom;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA|||||||||||3138|1||SNV|||YES|||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA|||||||||||402|1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.125-4717T>C|||||||||1||SNV|||YES|||4|||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:17,2:0.167:19:1,0:8,1:9,1:9,8,1,1 -chr1 911109 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|8%2C10;DP=19;ECNT=5;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=90;POPAF=7.3;TLOD=66.49;SRC=custom;GRP=custom;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs4970333|3062|1||SNV|||YES|||3||||||||||||||0.7145|0.6225|0.7291|0.6101|0.8002|0.8476||||||||||0.7498|0.6454|0.8377|0.7349|0.8257|0.6441|0.7528|0.7278|0.8124|0.7622|0.84|0.8476|SAS|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs4970333|326|1||SNV|||YES|||2||||||||||||||0.7145|0.6225|0.7291|0.6101|0.8002|0.8476||||||||||0.7498|0.6454|0.8377|0.7349|0.8257|0.6441|0.7528|0.7278|0.8124|0.7622|0.84|0.8476|SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.125-4641T>C|||||||rs4970333||1||SNV|||YES|||4||||||||||||||0.7145|0.6225|0.7291|0.6101|0.8002|0.8476||||||||||0.7498|0.6454|0.8377|0.7349|0.8257|0.6441|0.7528|0.7278|0.8124|0.7622|0.84|0.8476|SAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,18:0.925:18:0,1:0,7:0,11:0,0,8,10 -chr1 911109 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|6%2C6;DP=13;ECNT=1;GERMQ=76;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=31;POPAF=7.3;TLOD=45.32;SRC=custom;GRP=custom;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs4970333|3062|1||SNV|||YES|||3||||||||||||||0.7145|0.6225|0.7291|0.6101|0.8002|0.8476||||||||||0.7498|0.6454|0.8377|0.7349|0.8257|0.6441|0.7528|0.7278|0.8124|0.7622|0.84|0.8476|SAS|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs4970333|326|1||SNV|||YES|||2||||||||||||||0.7145|0.6225|0.7291|0.6101|0.8002|0.8476||||||||||0.7498|0.6454|0.8377|0.7349|0.8257|0.6441|0.7528|0.7278|0.8124|0.7622|0.84|0.8476|SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.125-4641T>C|||||||rs4970333||1||SNV|||YES|||4||||||||||||||0.7145|0.6225|0.7291|0.6101|0.8002|0.8476||||||||||0.7498|0.6454|0.8377|0.7349|0.8257|0.6441|0.7528|0.7278|0.8124|0.7622|0.84|0.8476|SAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,12:0.889:12:0,0:0,6:0,7:0,0,6,6 -chr1 911219 . T G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5%2C5|1%2C1;DP=12;ECNT=2;GERMQ=49;MBQ=33,30;MFRL=0,0;MMQ=60,60;MPOS=25;POPAF=7.3;TLOD=5.33;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA|||||||||||2952|1||SNV|||YES|||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA|||||||||||216|1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.125-4531T>G|||||||||1||SNV|||YES|||4|||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:10,2:0.25:12:0,0:5,1:5,1:0|1:911219_T_G:911219:5,5,1,1 -chr1 911428 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=1%2C0|3%2C3;DP=7;ECNT=3;GERMQ=44;MBQ=35,33;MFRL=0,0;MMQ=60,60;MPOS=73;POPAF=7.3;TLOD=21.36;SRC=custom;GRP=custom;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs4475691|2743|1||SNV|||YES|||3||||||||||||||0.2548|0.4032|0.2767|0.1081|0.1839|0.2628||||||||||0.2419|0.3496|0.3385|0.2551|0.1986|0.1037|0.1817|0.1962|0.1942|0.2373|0.2478|0.4032|AFR||||22633946&20637081|||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs4475691|7|1||SNV|||YES|||2||||||||||||||0.2548|0.4032|0.2767|0.1081|0.1839|0.2628||||||||||0.2419|0.3496|0.3385|0.2551|0.1986|0.1037|0.1817|0.1962|0.1942|0.2373|0.2478|0.4032|AFR||||22633946&20637081|||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.125-4322C>T|||||||rs4475691||1||SNV|||YES|||4||||||||||||||0.2548|0.4032|0.2767|0.1081|0.1839|0.2628||||||||||0.2419|0.3496|0.3385|0.2551|0.1986|0.1037|0.1817|0.1962|0.1942|0.2373|0.2478|0.4032|AFR||||22633946&20637081|||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344425|CTCF_binding_site||||||||||rs4475691||||SNV||||||||||||||||||||0.2548|0.4032|0.2767|0.1081|0.1839|0.2628||||||||||0.2419|0.3496|0.3385|0.2551|0.1986|0.1037|0.1817|0.1962|0.1942|0.2373|0.2478|0.4032|AFR||||22633946&20637081||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,6:0.667:7:0,0:1,3:1,3:1,0,3,3 -chr1 911484 . G C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C1;DP=4;ECNT=3;GERMQ=37;MBQ=34,34;MFRL=0,0;MMQ=60,60;MPOS=87;POPAF=7.3;TLOD=6.88;SRC=custom;GRP=custom;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs950122|2687|1||SNV|||YES|||3||||||||||||||0.2228|0.2943|0.2565|0.1091|0.1809|0.2628||||||||||0.2179|0.271|0.3366|0.2381|0.1988|0.1036|0.1813|0.1899|0.1929|0.2127|0.2484|0.3366|gnomADg_AMI|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||1/1|ENST00000448179.1:n.39+11G>C|||||||rs950122||1||SNV|||YES|||2||||||||||||||0.2228|0.2943|0.2565|0.1091|0.1809|0.2628||||||||||0.2179|0.271|0.3366|0.2381|0.1988|0.1036|0.1813|0.1899|0.1929|0.2127|0.2484|0.3366|gnomADg_AMI|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.125-4266G>C|||||||rs950122||1||SNV|||YES|||4||||||||||||||0.2228|0.2943|0.2565|0.1091|0.1809|0.2628||||||||||0.2179|0.271|0.3366|0.2381|0.1988|0.1036|0.1813|0.1899|0.1929|0.2127|0.2484|0.3366|gnomADg_AMI|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344425|CTCF_binding_site||||||||||rs950122||||SNV||||||||||||||||||||0.2228|0.2943|0.2565|0.1091|0.1809|0.2628||||||||||0.2179|0.271|0.3366|0.2381|0.1988|0.1036|0.1813|0.1899|0.1929|0.2127|0.2484|0.3366|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.5:4:0,0:1,1:1,1:1,1,1,1 -chr1 911523 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C1;DP=4;ECNT=3;GERMQ=37;MBQ=32,32;MFRL=0,0;MMQ=60,60;MPOS=78;POPAF=7.3;TLOD=6.58;SRC=custom;GRP=custom;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA|||||||||||2648|1||SNV|||YES|||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||1/1|ENST00000448179.1:n.39+50T>C|||||||||1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.125-4227T>C|||||||||1||SNV|||YES|||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344425|CTCF_binding_site||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.5:4:0,0:1,1:1,1:1,1,1,1 -chr1 911848 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4%2C4|1%2C1;DP=10;ECNT=2;GERMQ=45;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=38;POPAF=7.3;TLOD=6.18;SRC=custom;GRP=custom;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs3905286|2323|1||SNV|||YES|||3||||||||||||||0.2426|0.3563|0.268|0.1052|0.1928|0.2638||||||||||0.2363|0.3185|0.3549|0.2537|0.2056|0.09738|0.1829|0.1994|0.2007|0.2321|0.2498|0.3563|AFR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||1/1|ENST00000448179.1:n.40-97C>T|||||||rs3905286||1||SNV|||YES|||2||||||||||||||0.2426|0.3563|0.268|0.1052|0.1928|0.2638||||||||||0.2363|0.3185|0.3549|0.2537|0.2056|0.09738|0.1829|0.1994|0.2007|0.2321|0.2498|0.3563|AFR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.125-3902C>T|||||||rs3905286||1||SNV|||YES|||4||||||||||||||0.2426|0.3563|0.268|0.1052|0.1928|0.2638||||||||||0.2363|0.3185|0.3549|0.2537|0.2056|0.09738|0.1829|0.1994|0.2007|0.2321|0.2498|0.3563|AFR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:8,2:0.286:10:0,0:4,1:4,1:4,4,1,1 -chr1 911848 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=2;GERMQ=47;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=79;POPAF=7.3;TLOD=7.25;SRC=custom;GRP=custom;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs3905286|2323|1||SNV|||YES|||3||||||||||||||0.2426|0.3563|0.268|0.1052|0.1928|0.2638||||||||||0.2363|0.3185|0.3549|0.2537|0.2056|0.09738|0.1829|0.1994|0.2007|0.2321|0.2498|0.3563|AFR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||1/1|ENST00000448179.1:n.40-97C>T|||||||rs3905286||1||SNV|||YES|||2||||||||||||||0.2426|0.3563|0.268|0.1052|0.1928|0.2638||||||||||0.2363|0.3185|0.3549|0.2537|0.2056|0.09738|0.1829|0.1994|0.2007|0.2321|0.2498|0.3563|AFR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.125-3902C>T|||||||rs3905286||1||SNV|||YES|||4||||||||||||||0.2426|0.3563|0.268|0.1052|0.1928|0.2638||||||||||0.2363|0.3185|0.3549|0.2537|0.2056|0.09738|0.1829|0.1994|0.2007|0.2321|0.2498|0.3563|AFR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 911870 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|7%2C7;DP=14;ECNT=2;GERMQ=81;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=63;POPAF=7.3;TLOD=50.17;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs7416129|2301|1||SNV|||YES|||3||||||||||||||0.9994|0.9977|1|1|1|1||||||||||0.9992|0.9972|1|0.9999|1|1|1|1|1|0.999|0.9998|1|AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs7416129|5000|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.9994|0.9977|1|1|1|1||||||||||0.9992|0.9972|1|0.9999|1|1|1|1|1|0.999|0.9998|1|AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||1/1|ENST00000448179.1:n.40-75G>A|||||||rs7416129||1||SNV|||YES|||2||||||||||||||0.9994|0.9977|1|1|1|1||||||||||0.9992|0.9972|1|0.9999|1|1|1|1|1|0.999|0.9998|1|AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.125-3880G>A|||||||rs7416129||1||SNV|||YES|||4||||||||||||||0.9994|0.9977|1|1|1|1||||||||||0.9992|0.9972|1|0.9999|1|1|1|1|1|0.999|0.9998|1|AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs7416129|4995|-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.9994|0.9977|1|1|1|1||||||||||0.9992|0.9972|1|0.9999|1|1|1|1|1|0.999|0.9998|1|AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,14:0.889:14:0,0:0,7:0,7:0,0,7,7 -chr1 911870 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C3;DP=6;ECNT=2;GERMQ=58;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=14;POPAF=7.3;TLOD=21.86;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs7416129|2301|1||SNV|||YES|||3||||||||||||||0.9994|0.9977|1|1|1|1||||||||||0.9992|0.9972|1|0.9999|1|1|1|1|1|0.999|0.9998|1|AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs7416129|5000|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.9994|0.9977|1|1|1|1||||||||||0.9992|0.9972|1|0.9999|1|1|1|1|1|0.999|0.9998|1|AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||1/1|ENST00000448179.1:n.40-75G>A|||||||rs7416129||1||SNV|||YES|||2||||||||||||||0.9994|0.9977|1|1|1|1||||||||||0.9992|0.9972|1|0.9999|1|1|1|1|1|0.999|0.9998|1|AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.125-3880G>A|||||||rs7416129||1||SNV|||YES|||4||||||||||||||0.9994|0.9977|1|1|1|1||||||||||0.9992|0.9972|1|0.9999|1|1|1|1|1|0.999|0.9998|1|AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs7416129|4995|-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.9994|0.9977|1|1|1|1||||||||||0.9992|0.9972|1|0.9999|1|1|1|1|1|0.999|0.9998|1|AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.8:6:0,0:0,3:0,3:0,0,3,3 -chr1 912111 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C2|1%2C1;DP=7;ECNT=1;GERMQ=39;MBQ=34,32;MFRL=0,0;MMQ=60,60;MPOS=9;POPAF=7.3;TLOD=6.23;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs28407778|2060|1||SNV|||YES|||3||||||||||||||0.2520|0.3858|0.2709|0.1052|0.1958|0.2669||||||||||0.2494|0.3466|0.3549|0.2571|0.2068|0.09622|0.1868|0.2184|0.2109|0.2419|0.2519|0.3858|AFR|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs28407778|4759|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.2520|0.3858|0.2709|0.1052|0.1958|0.2669||||||||||0.2494|0.3466|0.3549|0.2571|0.2068|0.09622|0.1868|0.2184|0.2109|0.2419|0.2519|0.3858|AFR|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA|2/2||ENST00000448179.1:n.206G>A||206|||||rs28407778||1||SNV|||YES|||2||||||||||||||0.2520|0.3858|0.2709|0.1052|0.1958|0.2669||||||||||0.2494|0.3466|0.3549|0.2571|0.2068|0.09622|0.1868|0.2184|0.2109|0.2419|0.2519|0.3858|AFR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.125-3639G>A|||||||rs28407778||1||SNV|||YES|||4||||||||||||||0.2520|0.3858|0.2709|0.1052|0.1958|0.2669||||||||||0.2494|0.3466|0.3549|0.2571|0.2068|0.09622|0.1868|0.2184|0.2109|0.2419|0.2519|0.3858|AFR|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs28407778|4754|-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.2520|0.3858|0.2709|0.1052|0.1958|0.2669||||||||||0.2494|0.3466|0.3549|0.2571|0.2068|0.09622|0.1868|0.2184|0.2109|0.2419|0.2519|0.3858|AFR|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000249803|CTCF_binding_site||||||||||rs28407778||||SNV||||||||||||||||||||0.2520|0.3858|0.2709|0.1052|0.1958|0.2669||||||||||0.2494|0.3466|0.3549|0.2571|0.2068|0.09622|0.1868|0.2184|0.2109|0.2419|0.2519|0.3858|AFR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,2:0.396:6:0,0:2,1:2,1:2,2,1,1 -chr1 912111 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C0|2%2C2;DP=7;ECNT=1;GERMQ=37;MBQ=31,33;MFRL=0,0;MMQ=60,60;MPOS=65;POPAF=7.3;TLOD=13.19;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs28407778|2060|1||SNV|||YES|||3||||||||||||||0.2520|0.3858|0.2709|0.1052|0.1958|0.2669||||||||||0.2494|0.3466|0.3549|0.2571|0.2068|0.09622|0.1868|0.2184|0.2109|0.2419|0.2519|0.3858|AFR|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs28407778|4759|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.2520|0.3858|0.2709|0.1052|0.1958|0.2669||||||||||0.2494|0.3466|0.3549|0.2571|0.2068|0.09622|0.1868|0.2184|0.2109|0.2419|0.2519|0.3858|AFR|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA|2/2||ENST00000448179.1:n.206G>A||206|||||rs28407778||1||SNV|||YES|||2||||||||||||||0.2520|0.3858|0.2709|0.1052|0.1958|0.2669||||||||||0.2494|0.3466|0.3549|0.2571|0.2068|0.09622|0.1868|0.2184|0.2109|0.2419|0.2519|0.3858|AFR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.125-3639G>A|||||||rs28407778||1||SNV|||YES|||4||||||||||||||0.2520|0.3858|0.2709|0.1052|0.1958|0.2669||||||||||0.2494|0.3466|0.3549|0.2571|0.2068|0.09622|0.1868|0.2184|0.2109|0.2419|0.2519|0.3858|AFR|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs28407778|4754|-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.2520|0.3858|0.2709|0.1052|0.1958|0.2669||||||||||0.2494|0.3466|0.3549|0.2571|0.2068|0.09622|0.1868|0.2184|0.2109|0.2419|0.2519|0.3858|AFR|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000249803|CTCF_binding_site||||||||||rs28407778||||SNV||||||||||||||||||||0.2520|0.3858|0.2709|0.1052|0.1958|0.2669||||||||||0.2494|0.3466|0.3549|0.2571|0.2068|0.09622|0.1868|0.2184|0.2109|0.2419|0.2519|0.3858|AFR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,4:0.5:6:0,0:2,2:2,2:2,0,2,2 -chr1 912710 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C2;DP=6;ECNT=1;GERMQ=37;MBQ=32,34;MFRL=0,0;MMQ=60,60;MPOS=4;POPAF=7.3;TLOD=10.25;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs4246505|1461|1||SNV|||YES|||3||||||||||||||0.1711|0.1021|0.2349|0.1062|0.1899|0.2669||||||||||0.1827|0.1198|0.3546|0.2245|0.2023|0.09598|0.1867|0.1899|0.2082|0.1917|0.2514|0.3546|gnomADg_AMI|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs4246505|4160|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.1711|0.1021|0.2349|0.1062|0.1899|0.2669||||||||||0.1827|0.1198|0.3546|0.2245|0.2023|0.09598|0.1867|0.1899|0.2082|0.1917|0.2514|0.3546|gnomADg_AMI|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||||||||||rs4246505|4660|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.1711|0.1021|0.2349|0.1062|0.1899|0.2669||||||||||0.1827|0.1198|0.3546|0.2245|0.2023|0.09598|0.1867|0.1899|0.2082|0.1917|0.2514|0.3546|gnomADg_AMI|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA|2/2||ENST00000448179.1:n.805G>A||805|||||rs4246505||1||SNV|||YES|||2||||||||||||||0.1711|0.1021|0.2349|0.1062|0.1899|0.2669||||||||||0.1827|0.1198|0.3546|0.2245|0.2023|0.09598|0.1867|0.1899|0.2082|0.1917|0.2514|0.3546|gnomADg_AMI|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.125-3040G>A|||||||rs4246505||1||SNV|||YES|||4||||||||||||||0.1711|0.1021|0.2349|0.1062|0.1899|0.2669||||||||||0.1827|0.1198|0.3546|0.2245|0.2023|0.09598|0.1867|0.1899|0.2082|0.1917|0.2514|0.3546|gnomADg_AMI|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs4246505|4155|-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.1711|0.1021|0.2349|0.1062|0.1899|0.2669||||||||||0.1827|0.1198|0.3546|0.2245|0.2023|0.09598|0.1867|0.1899|0.2082|0.1917|0.2514|0.3546|gnomADg_AMI|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000249803|CTCF_binding_site||||||||||rs4246505||||SNV||||||||||||||||||||0.1711|0.1021|0.2349|0.1062|0.1899|0.2669||||||||||0.1827|0.1198|0.3546|0.2245|0.2023|0.09598|0.1867|0.1899|0.2082|0.1917|0.2514|0.3546|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,3:0.6:5:0,0:1,1:1,2:1,1,1,2 -chr1 913065 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=3%2C3|2%2C3;DP=11;ECNT=3;GERMQ=36;MBQ=32,31;MFRL=0,0;MMQ=60,60;MPOS=23;POPAF=7.3;TLOD=13.01;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs4626817|1106|1||SNV|||YES|||3||||||||||||||0.2506|0.3812|0.268|0.1062|0.1958|0.2669||||||||||0.246|0.3414|0.3564|0.2552|0.2032|0.09746|0.1859|0.1994|0.2073|0.2409|0.2531|0.3812|AFR|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs4626817|3805|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.2506|0.3812|0.268|0.1062|0.1958|0.2669||||||||||0.246|0.3414|0.3564|0.2552|0.2032|0.09746|0.1859|0.1994|0.2073|0.2409|0.2531|0.3812|AFR|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||||||||||rs4626817|4305|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.2506|0.3812|0.268|0.1062|0.1958|0.2669||||||||||0.246|0.3414|0.3564|0.2552|0.2032|0.09746|0.1859|0.1994|0.2073|0.2409|0.2531|0.3812|AFR|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA|2/2||ENST00000448179.1:n.1160G>A||1160|||||rs4626817||1||SNV|||YES|||2||||||||||||||0.2506|0.3812|0.268|0.1062|0.1958|0.2669||||||||||0.246|0.3414|0.3564|0.2552|0.2032|0.09746|0.1859|0.1994|0.2073|0.2409|0.2531|0.3812|AFR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.125-2685G>A|||||||rs4626817||1||SNV|||YES|||4||||||||||||||0.2506|0.3812|0.268|0.1062|0.1958|0.2669||||||||||0.246|0.3414|0.3564|0.2552|0.2032|0.09746|0.1859|0.1994|0.2073|0.2409|0.2531|0.3812|AFR|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs4626817|3800|-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.2506|0.3812|0.268|0.1062|0.1958|0.2669||||||||||0.246|0.3414|0.3564|0.2552|0.2032|0.09746|0.1859|0.1994|0.2073|0.2409|0.2531|0.3812|AFR|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000249803|CTCF_binding_site||||||||||rs4626817||||SNV||||||||||||||||||||0.2506|0.3812|0.268|0.1062|0.1958|0.2669||||||||||0.246|0.3414|0.3564|0.2552|0.2032|0.09746|0.1859|0.1994|0.2073|0.2409|0.2531|0.3812|AFR|||||||||||||,A|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM01052266364|||||||||||rs4626817||1||SNV||||||||||||||||||||0.2506|0.3812|0.268|0.1062|0.1958|0.2669||||||||||0.246|0.3414|0.3564|0.2552|0.2032|0.09746|0.1859|0.1994|0.2073|0.2409|0.2531|0.3812|AFR|||||ENSPFM0403|23|Y|-0.111|MYBL1::MAX||||,A|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM01052325845|||||||||||rs4626817||-1||SNV||||||||||||||||||||0.2506|0.3812|0.268|0.1062|0.1958|0.2669||||||||||0.246|0.3414|0.3564|0.2552|0.2032|0.09746|0.1859|0.1994|0.2073|0.2409|0.2531|0.3812|AFR|||||ENSPFM0598|6|N|0.002|TFAP2C::MAX||||,A|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM01051764069|||||||||||rs4626817||-1||SNV||||||||||||||||||||0.2506|0.3812|0.268|0.1062|0.1958|0.2669||||||||||0.246|0.3414|0.3564|0.2552|0.2032|0.09746|0.1859|0.1994|0.2073|0.2409|0.2531|0.3812|AFR|||||ENSPFM0595|17|Y|-0.041|TFAP2C::MAX||||,A|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM01052026605|||||||||||rs4626817||-1||SNV||||||||||||||||||||0.2506|0.3812|0.268|0.1062|0.1958|0.2669||||||||||0.246|0.3414|0.3564|0.2552|0.2032|0.09746|0.1859|0.1994|0.2073|0.2409|0.2531|0.3812|AFR|||||ENSPFM0597|5|N|-0.016|TFAP2C::MAX||||,A|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00194683147|||||||||||rs4626817||-1||SNV||||||||||||||||||||0.2506|0.3812|0.268|0.1062|0.1958|0.2669||||||||||0.246|0.3414|0.3564|0.2552|0.2032|0.09746|0.1859|0.1994|0.2073|0.2409|0.2531|0.3812|AFR|||||ENSPFM0605|17|N|-0.039|TFAP4::MAX||||,A|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM01051718122|||||||||||rs4626817||-1||SNV||||||||||||||||||||0.2506|0.3812|0.268|0.1062|0.1958|0.2669||||||||||0.246|0.3414|0.3564|0.2552|0.2032|0.09746|0.1859|0.1994|0.2073|0.2409|0.2531|0.3812|AFR|||||ENSPFM0596|18|Y|-0.048|TFAP2C::MAX||||,A|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00193792346|||||||||||rs4626817||1||SNV||||||||||||||||||||0.2506|0.3812|0.268|0.1062|0.1958|0.2669||||||||||0.246|0.3414|0.3564|0.2552|0.2032|0.09746|0.1859|0.1994|0.2073|0.2409|0.2531|0.3812|AFR|||||ENSPFM0240|5|N|-0.025|GCM1::MAX||||,A|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM01052237842|||||||||||rs4626817||1||SNV||||||||||||||||||||0.2506|0.3812|0.268|0.1062|0.1958|0.2669||||||||||0.246|0.3414|0.3564|0.2552|0.2032|0.09746|0.1859|0.1994|0.2073|0.2409|0.2531|0.3812|AFR|||||ENSPFM0365|4|Y|-0.032|MAX&TFAP4::MAX&CLOCK::BHLHA15|||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,5:0.444:11:2,1:2,2:4,3:3,3,2,3 -chr1 913065 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=2;GERMQ=50;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=137;POPAF=7.3;TLOD=10.35;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs4626817|1106|1||SNV|||YES|||3||||||||||||||0.2506|0.3812|0.268|0.1062|0.1958|0.2669||||||||||0.246|0.3414|0.3564|0.2552|0.2032|0.09746|0.1859|0.1994|0.2073|0.2409|0.2531|0.3812|AFR|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs4626817|3805|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.2506|0.3812|0.268|0.1062|0.1958|0.2669||||||||||0.246|0.3414|0.3564|0.2552|0.2032|0.09746|0.1859|0.1994|0.2073|0.2409|0.2531|0.3812|AFR|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||||||||||rs4626817|4305|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.2506|0.3812|0.268|0.1062|0.1958|0.2669||||||||||0.246|0.3414|0.3564|0.2552|0.2032|0.09746|0.1859|0.1994|0.2073|0.2409|0.2531|0.3812|AFR|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA|2/2||ENST00000448179.1:n.1160G>A||1160|||||rs4626817||1||SNV|||YES|||2||||||||||||||0.2506|0.3812|0.268|0.1062|0.1958|0.2669||||||||||0.246|0.3414|0.3564|0.2552|0.2032|0.09746|0.1859|0.1994|0.2073|0.2409|0.2531|0.3812|AFR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.125-2685G>A|||||||rs4626817||1||SNV|||YES|||4||||||||||||||0.2506|0.3812|0.268|0.1062|0.1958|0.2669||||||||||0.246|0.3414|0.3564|0.2552|0.2032|0.09746|0.1859|0.1994|0.2073|0.2409|0.2531|0.3812|AFR|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs4626817|3800|-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.2506|0.3812|0.268|0.1062|0.1958|0.2669||||||||||0.246|0.3414|0.3564|0.2552|0.2032|0.09746|0.1859|0.1994|0.2073|0.2409|0.2531|0.3812|AFR|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000249803|CTCF_binding_site||||||||||rs4626817||||SNV||||||||||||||||||||0.2506|0.3812|0.268|0.1062|0.1958|0.2669||||||||||0.246|0.3414|0.3564|0.2552|0.2032|0.09746|0.1859|0.1994|0.2073|0.2409|0.2531|0.3812|AFR|||||||||||||,A|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM01052266364|||||||||||rs4626817||1||SNV||||||||||||||||||||0.2506|0.3812|0.268|0.1062|0.1958|0.2669||||||||||0.246|0.3414|0.3564|0.2552|0.2032|0.09746|0.1859|0.1994|0.2073|0.2409|0.2531|0.3812|AFR|||||ENSPFM0403|23|Y|-0.111|MYBL1::MAX||||,A|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM01052325845|||||||||||rs4626817||-1||SNV||||||||||||||||||||0.2506|0.3812|0.268|0.1062|0.1958|0.2669||||||||||0.246|0.3414|0.3564|0.2552|0.2032|0.09746|0.1859|0.1994|0.2073|0.2409|0.2531|0.3812|AFR|||||ENSPFM0598|6|N|0.002|TFAP2C::MAX||||,A|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM01051764069|||||||||||rs4626817||-1||SNV||||||||||||||||||||0.2506|0.3812|0.268|0.1062|0.1958|0.2669||||||||||0.246|0.3414|0.3564|0.2552|0.2032|0.09746|0.1859|0.1994|0.2073|0.2409|0.2531|0.3812|AFR|||||ENSPFM0595|17|Y|-0.041|TFAP2C::MAX||||,A|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM01052026605|||||||||||rs4626817||-1||SNV||||||||||||||||||||0.2506|0.3812|0.268|0.1062|0.1958|0.2669||||||||||0.246|0.3414|0.3564|0.2552|0.2032|0.09746|0.1859|0.1994|0.2073|0.2409|0.2531|0.3812|AFR|||||ENSPFM0597|5|N|-0.016|TFAP2C::MAX||||,A|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00194683147|||||||||||rs4626817||-1||SNV||||||||||||||||||||0.2506|0.3812|0.268|0.1062|0.1958|0.2669||||||||||0.246|0.3414|0.3564|0.2552|0.2032|0.09746|0.1859|0.1994|0.2073|0.2409|0.2531|0.3812|AFR|||||ENSPFM0605|17|N|-0.039|TFAP4::MAX||||,A|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM01051718122|||||||||||rs4626817||-1||SNV||||||||||||||||||||0.2506|0.3812|0.268|0.1062|0.1958|0.2669||||||||||0.246|0.3414|0.3564|0.2552|0.2032|0.09746|0.1859|0.1994|0.2073|0.2409|0.2531|0.3812|AFR|||||ENSPFM0596|18|Y|-0.048|TFAP2C::MAX||||,A|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00193792346|||||||||||rs4626817||1||SNV||||||||||||||||||||0.2506|0.3812|0.268|0.1062|0.1958|0.2669||||||||||0.246|0.3414|0.3564|0.2552|0.2032|0.09746|0.1859|0.1994|0.2073|0.2409|0.2531|0.3812|AFR|||||ENSPFM0240|5|N|-0.025|GCM1::MAX||||,A|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM01052237842|||||||||||rs4626817||1||SNV||||||||||||||||||||0.2506|0.3812|0.268|0.1062|0.1958|0.2669||||||||||0.246|0.3414|0.3564|0.2552|0.2032|0.09746|0.1859|0.1994|0.2073|0.2409|0.2531|0.3812|AFR|||||ENSPFM0365|4|Y|-0.032|MAX&TFAP4::MAX&CLOCK::BHLHA15|||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,1:0,1:0,2:0,0,1,2 -chr1 913076 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=3%2C3|3%2C4;DP=13;ECNT=3;GERMQ=35;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=31;POPAF=7.3;TLOD=23.19;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs11507767|1095|1||SNV|||YES|||3||||||||||||||0.2528|0.3873|0.2709|0.1062|0.1958|0.2679||||||||||0.2486|0.3503|0.3564|0.256|0.2029|0.09718|0.1865|0.1994|0.2073|0.2428|0.253|0.3873|AFR|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs11507767|3794|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.2528|0.3873|0.2709|0.1062|0.1958|0.2679||||||||||0.2486|0.3503|0.3564|0.256|0.2029|0.09718|0.1865|0.1994|0.2073|0.2428|0.253|0.3873|AFR|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||||||||||rs11507767|4294|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.2528|0.3873|0.2709|0.1062|0.1958|0.2679||||||||||0.2486|0.3503|0.3564|0.256|0.2029|0.09718|0.1865|0.1994|0.2073|0.2428|0.253|0.3873|AFR|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA|2/2||ENST00000448179.1:n.1171A>G||1171|||||rs11507767||1||SNV|||YES|||2||||||||||||||0.2528|0.3873|0.2709|0.1062|0.1958|0.2679||||||||||0.2486|0.3503|0.3564|0.256|0.2029|0.09718|0.1865|0.1994|0.2073|0.2428|0.253|0.3873|AFR|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.125-2674A>G|||||||rs11507767||1||SNV|||YES|||4||||||||||||||0.2528|0.3873|0.2709|0.1062|0.1958|0.2679||||||||||0.2486|0.3503|0.3564|0.256|0.2029|0.09718|0.1865|0.1994|0.2073|0.2428|0.253|0.3873|AFR|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs11507767|3789|-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.2528|0.3873|0.2709|0.1062|0.1958|0.2679||||||||||0.2486|0.3503|0.3564|0.256|0.2029|0.09718|0.1865|0.1994|0.2073|0.2428|0.253|0.3873|AFR|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000249803|CTCF_binding_site||||||||||rs11507767||||SNV||||||||||||||||||||0.2528|0.3873|0.2709|0.1062|0.1958|0.2679||||||||||0.2486|0.3503|0.3564|0.256|0.2029|0.09718|0.1865|0.1994|0.2073|0.2428|0.253|0.3873|AFR|||||||||||||,G|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM01051764069|||||||||||rs11507767||-1||SNV||||||||||||||||||||0.2528|0.3873|0.2709|0.1062|0.1958|0.2679||||||||||0.2486|0.3503|0.3564|0.256|0.2029|0.09718|0.1865|0.1994|0.2073|0.2428|0.253|0.3873|AFR|||||ENSPFM0595|6|N|-0.005|TFAP2C::MAX||||,G|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00194683147|||||||||||rs11507767||-1||SNV||||||||||||||||||||0.2528|0.3873|0.2709|0.1062|0.1958|0.2679||||||||||0.2486|0.3503|0.3564|0.256|0.2029|0.09718|0.1865|0.1994|0.2073|0.2428|0.253|0.3873|AFR|||||ENSPFM0605|6|Y|-0.050|TFAP4::MAX||||,G|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM01051718122|||||||||||rs11507767||-1||SNV||||||||||||||||||||0.2528|0.3873|0.2709|0.1062|0.1958|0.2679||||||||||0.2486|0.3503|0.3564|0.256|0.2029|0.09718|0.1865|0.1994|0.2073|0.2428|0.253|0.3873|AFR|||||ENSPFM0596|7|N|0.011|TFAP2C::MAX||||,G|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00193792346|||||||||||rs11507767||1||SNV||||||||||||||||||||0.2528|0.3873|0.2709|0.1062|0.1958|0.2679||||||||||0.2486|0.3503|0.3564|0.256|0.2029|0.09718|0.1865|0.1994|0.2073|0.2428|0.253|0.3873|AFR|||||ENSPFM0240|16|Y|-0.039|GCM1::MAX||||,G|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM01052237842|||||||||||rs11507767||1||SNV||||||||||||||||||||0.2528|0.3873|0.2709|0.1062|0.1958|0.2679||||||||||0.2486|0.3503|0.3564|0.256|0.2029|0.09718|0.1865|0.1994|0.2073|0.2428|0.253|0.3873|AFR|||||ENSPFM0365|15|Y|0.029|MAX&TFAP4::MAX&CLOCK::BHLHA15|||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,7:0.556:13:1,1:2,3:3,4:3,3,3,4 -chr1 913076 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C1;DP=4;ECNT=2;GERMQ=50;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=8;POPAF=7.3;TLOD=10.59;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs11507767|1095|1||SNV|||YES|||3||||||||||||||0.2528|0.3873|0.2709|0.1062|0.1958|0.2679||||||||||0.2486|0.3503|0.3564|0.256|0.2029|0.09718|0.1865|0.1994|0.2073|0.2428|0.253|0.3873|AFR|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs11507767|3794|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.2528|0.3873|0.2709|0.1062|0.1958|0.2679||||||||||0.2486|0.3503|0.3564|0.256|0.2029|0.09718|0.1865|0.1994|0.2073|0.2428|0.253|0.3873|AFR|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||||||||||rs11507767|4294|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.2528|0.3873|0.2709|0.1062|0.1958|0.2679||||||||||0.2486|0.3503|0.3564|0.256|0.2029|0.09718|0.1865|0.1994|0.2073|0.2428|0.253|0.3873|AFR|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA|2/2||ENST00000448179.1:n.1171A>G||1171|||||rs11507767||1||SNV|||YES|||2||||||||||||||0.2528|0.3873|0.2709|0.1062|0.1958|0.2679||||||||||0.2486|0.3503|0.3564|0.256|0.2029|0.09718|0.1865|0.1994|0.2073|0.2428|0.253|0.3873|AFR|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.125-2674A>G|||||||rs11507767||1||SNV|||YES|||4||||||||||||||0.2528|0.3873|0.2709|0.1062|0.1958|0.2679||||||||||0.2486|0.3503|0.3564|0.256|0.2029|0.09718|0.1865|0.1994|0.2073|0.2428|0.253|0.3873|AFR|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs11507767|3789|-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.2528|0.3873|0.2709|0.1062|0.1958|0.2679||||||||||0.2486|0.3503|0.3564|0.256|0.2029|0.09718|0.1865|0.1994|0.2073|0.2428|0.253|0.3873|AFR|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000249803|CTCF_binding_site||||||||||rs11507767||||SNV||||||||||||||||||||0.2528|0.3873|0.2709|0.1062|0.1958|0.2679||||||||||0.2486|0.3503|0.3564|0.256|0.2029|0.09718|0.1865|0.1994|0.2073|0.2428|0.253|0.3873|AFR|||||||||||||,G|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM01051764069|||||||||||rs11507767||-1||SNV||||||||||||||||||||0.2528|0.3873|0.2709|0.1062|0.1958|0.2679||||||||||0.2486|0.3503|0.3564|0.256|0.2029|0.09718|0.1865|0.1994|0.2073|0.2428|0.253|0.3873|AFR|||||ENSPFM0595|6|N|-0.005|TFAP2C::MAX||||,G|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00194683147|||||||||||rs11507767||-1||SNV||||||||||||||||||||0.2528|0.3873|0.2709|0.1062|0.1958|0.2679||||||||||0.2486|0.3503|0.3564|0.256|0.2029|0.09718|0.1865|0.1994|0.2073|0.2428|0.253|0.3873|AFR|||||ENSPFM0605|6|Y|-0.050|TFAP4::MAX||||,G|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM01051718122|||||||||||rs11507767||-1||SNV||||||||||||||||||||0.2528|0.3873|0.2709|0.1062|0.1958|0.2679||||||||||0.2486|0.3503|0.3564|0.256|0.2029|0.09718|0.1865|0.1994|0.2073|0.2428|0.253|0.3873|AFR|||||ENSPFM0596|7|N|0.011|TFAP2C::MAX||||,G|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00193792346|||||||||||rs11507767||1||SNV||||||||||||||||||||0.2528|0.3873|0.2709|0.1062|0.1958|0.2679||||||||||0.2486|0.3503|0.3564|0.256|0.2029|0.09718|0.1865|0.1994|0.2073|0.2428|0.253|0.3873|AFR|||||ENSPFM0240|16|Y|-0.039|GCM1::MAX||||,G|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM01052237842|||||||||||rs11507767||1||SNV||||||||||||||||||||0.2528|0.3873|0.2709|0.1062|0.1958|0.2679||||||||||0.2486|0.3503|0.3564|0.256|0.2029|0.09718|0.1865|0.1994|0.2073|0.2428|0.253|0.3873|AFR|||||ENSPFM0365|15|Y|0.029|MAX&TFAP4::MAX&CLOCK::BHLHA15|||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.811:3:0,1:0,2:0,3:0,0,2,1 -chr1 913086 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=5%2C6|1%2C1;DP=13;ECNT=3;GERMQ=51;MBQ=35,32;MFRL=0,0;MMQ=60,60;MPOS=34;POPAF=7.3;TLOD=5.51;SRC=custom;GRP=custom;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA|||||||||||1085|1||SNV|||YES|||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA|||||||||||3784|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron|||||||||||4284|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA|2/2||ENST00000448179.1:n.1181C>T||1181|||||||1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.125-2664C>T|||||||||1||SNV|||YES|||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron|||||||||||3779|-1||SNV|HGNC|HGNC:53933||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000249803|CTCF_binding_site||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:11,2:0.222:13:1,1:5,0:6,1:5,6,1,1 -chr1 913337 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=6%2C7|1%2C1;DP=16;ECNT=3;GERMQ=55;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=78;POPAF=7.3;TLOD=5.47;SRC=custom;GRP=custom;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA|||||||||||834|1||SNV|||YES|||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA|||||||||||3533|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron|||||||||||4033|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA|2/2||ENST00000448179.1:n.1432C>T||1432|||||||1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.125-2413C>T|||||||||1||SNV|||YES|||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron|||||||||||3528|-1||SNV|HGNC|HGNC:53933||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000249803|CTCF_binding_site||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:13,2:0.197:15:0,0:6,1:7,1:6,7,1,1 -chr1 913358 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=4%2C3|3%2C3;DP=14;ECNT=3;GERMQ=36;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=70;POPAF=7.3;TLOD=19.36;SRC=custom;GRP=custom;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs3829741|813|1||SNV|||YES|||3||||||||||||||0.1707|0.1014|0.2349|0.1052|0.1899|0.2669||||||||||0.1807|0.1164|0.3473|0.2234|0.2018|0.09586|0.1854|0.1867|0.2074|0.19|0.2522|0.3473|gnomADg_AMI|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs3829741|3512|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.1707|0.1014|0.2349|0.1052|0.1899|0.2669||||||||||0.1807|0.1164|0.3473|0.2234|0.2018|0.09586|0.1854|0.1867|0.2074|0.19|0.2522|0.3473|gnomADg_AMI|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||||||||||rs3829741|4012|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.1707|0.1014|0.2349|0.1052|0.1899|0.2669||||||||||0.1807|0.1164|0.3473|0.2234|0.2018|0.09586|0.1854|0.1867|0.2074|0.19|0.2522|0.3473|gnomADg_AMI|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA|2/2||ENST00000448179.1:n.1453C>T||1453|||||rs3829741||1||SNV|||YES|||2||||||||||||||0.1707|0.1014|0.2349|0.1052|0.1899|0.2669||||||||||0.1807|0.1164|0.3473|0.2234|0.2018|0.09586|0.1854|0.1867|0.2074|0.19|0.2522|0.3473|gnomADg_AMI|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.125-2392C>T|||||||rs3829741||1||SNV|||YES|||4||||||||||||||0.1707|0.1014|0.2349|0.1052|0.1899|0.2669||||||||||0.1807|0.1164|0.3473|0.2234|0.2018|0.09586|0.1854|0.1867|0.2074|0.19|0.2522|0.3473|gnomADg_AMI|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs3829741|3507|-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.1707|0.1014|0.2349|0.1052|0.1899|0.2669||||||||||0.1807|0.1164|0.3473|0.2234|0.2018|0.09586|0.1854|0.1867|0.2074|0.19|0.2522|0.3473|gnomADg_AMI|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000249803|CTCF_binding_site||||||||||rs3829741||||SNV||||||||||||||||||||0.1707|0.1014|0.2349|0.1052|0.1899|0.2669||||||||||0.1807|0.1164|0.3473|0.2234|0.2018|0.09586|0.1854|0.1867|0.2074|0.19|0.2522|0.3473|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,6:0.4:13:0,0:4,3:5,3:4,3,3,3 -chr1 913358 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C4|2%2C1;DP=11;ECNT=2;GERMQ=40;MBQ=32,28;MFRL=0,0;MMQ=60,60;MPOS=10;POPAF=7.3;TLOD=8.31;SRC=custom;GRP=custom;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs3829741|813|1||SNV|||YES|||3||||||||||||||0.1707|0.1014|0.2349|0.1052|0.1899|0.2669||||||||||0.1807|0.1164|0.3473|0.2234|0.2018|0.09586|0.1854|0.1867|0.2074|0.19|0.2522|0.3473|gnomADg_AMI|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs3829741|3512|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.1707|0.1014|0.2349|0.1052|0.1899|0.2669||||||||||0.1807|0.1164|0.3473|0.2234|0.2018|0.09586|0.1854|0.1867|0.2074|0.19|0.2522|0.3473|gnomADg_AMI|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||||||||||rs3829741|4012|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.1707|0.1014|0.2349|0.1052|0.1899|0.2669||||||||||0.1807|0.1164|0.3473|0.2234|0.2018|0.09586|0.1854|0.1867|0.2074|0.19|0.2522|0.3473|gnomADg_AMI|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA|2/2||ENST00000448179.1:n.1453C>T||1453|||||rs3829741||1||SNV|||YES|||2||||||||||||||0.1707|0.1014|0.2349|0.1052|0.1899|0.2669||||||||||0.1807|0.1164|0.3473|0.2234|0.2018|0.09586|0.1854|0.1867|0.2074|0.19|0.2522|0.3473|gnomADg_AMI|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.125-2392C>T|||||||rs3829741||1||SNV|||YES|||4||||||||||||||0.1707|0.1014|0.2349|0.1052|0.1899|0.2669||||||||||0.1807|0.1164|0.3473|0.2234|0.2018|0.09586|0.1854|0.1867|0.2074|0.19|0.2522|0.3473|gnomADg_AMI|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs3829741|3507|-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.1707|0.1014|0.2349|0.1052|0.1899|0.2669||||||||||0.1807|0.1164|0.3473|0.2234|0.2018|0.09586|0.1854|0.1867|0.2074|0.19|0.2522|0.3473|gnomADg_AMI|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000249803|CTCF_binding_site||||||||||rs3829741||||SNV||||||||||||||||||||0.1707|0.1014|0.2349|0.1052|0.1899|0.2669||||||||||0.1807|0.1164|0.3473|0.2234|0.2018|0.09586|0.1854|0.1867|0.2074|0.19|0.2522|0.3473|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,3:0.375:10:0,0:3,2:4,2:3,4,2,1 -chr1 914618 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C5;DP=10;ECNT=1;GERMQ=66;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=96;POPAF=7.3;TLOD=33.21;SRC=custom;GRP=custom;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||1/1|ENST00000398216.2:n.274+174A>G|||||||rs13303222||1||SNV|||YES|||3||||||||||||||0.8235|0.8313|0.8372|0.7619|0.8042|0.8865||||||||||0.8191|0.8259|0.8553|0.8409|0.8369|0.7692|0.7582|0.7152|0.8185|0.822|0.8721|0.8865|SAS|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs13303222|2252|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.8235|0.8313|0.8372|0.7619|0.8042|0.8865||||||||||0.8191|0.8259|0.8553|0.8409|0.8369|0.7692|0.7582|0.7152|0.8185|0.822|0.8721|0.8865|SAS|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||||||||||rs13303222|2752|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.8235|0.8313|0.8372|0.7619|0.8042|0.8865||||||||||0.8191|0.8259|0.8553|0.8409|0.8369|0.7692|0.7582|0.7152|0.8185|0.822|0.8721|0.8865|SAS|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA|2/2||ENST00000448179.1:n.2713A>G||2713|||||rs13303222||1||SNV|||YES|||2||||||||||||||0.8235|0.8313|0.8372|0.7619|0.8042|0.8865||||||||||0.8191|0.8259|0.8553|0.8409|0.8369|0.7692|0.7582|0.7152|0.8185|0.822|0.8721|0.8865|SAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.125-1132A>G|||||||rs13303222||1||SNV|||YES|||4||||||||||||||0.8235|0.8313|0.8372|0.7619|0.8042|0.8865||||||||||0.8191|0.8259|0.8553|0.8409|0.8369|0.7692|0.7582|0.7152|0.8185|0.822|0.8721|0.8865|SAS|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs13303222|2247|-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.8235|0.8313|0.8372|0.7619|0.8042|0.8865||||||||||0.8191|0.8259|0.8553|0.8409|0.8369|0.7692|0.7582|0.7152|0.8185|0.822|0.8721|0.8865|SAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,9:0.857:9:0,1:0,3:0,5:0,0,4,5 -chr1 914618 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C3;DP=6;ECNT=1;GERMQ=58;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=77;POPAF=7.3;TLOD=21.93;SRC=custom;GRP=custom;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||1/1|ENST00000398216.2:n.274+174A>G|||||||rs13303222||1||SNV|||YES|||3||||||||||||||0.8235|0.8313|0.8372|0.7619|0.8042|0.8865||||||||||0.8191|0.8259|0.8553|0.8409|0.8369|0.7692|0.7582|0.7152|0.8185|0.822|0.8721|0.8865|SAS|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs13303222|2252|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.8235|0.8313|0.8372|0.7619|0.8042|0.8865||||||||||0.8191|0.8259|0.8553|0.8409|0.8369|0.7692|0.7582|0.7152|0.8185|0.822|0.8721|0.8865|SAS|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||||||||||rs13303222|2752|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.8235|0.8313|0.8372|0.7619|0.8042|0.8865||||||||||0.8191|0.8259|0.8553|0.8409|0.8369|0.7692|0.7582|0.7152|0.8185|0.822|0.8721|0.8865|SAS|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA|2/2||ENST00000448179.1:n.2713A>G||2713|||||rs13303222||1||SNV|||YES|||2||||||||||||||0.8235|0.8313|0.8372|0.7619|0.8042|0.8865||||||||||0.8191|0.8259|0.8553|0.8409|0.8369|0.7692|0.7582|0.7152|0.8185|0.822|0.8721|0.8865|SAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.125-1132A>G|||||||rs13303222||1||SNV|||YES|||4||||||||||||||0.8235|0.8313|0.8372|0.7619|0.8042|0.8865||||||||||0.8191|0.8259|0.8553|0.8409|0.8369|0.7692|0.7582|0.7152|0.8185|0.822|0.8721|0.8865|SAS|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs13303222|2247|-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.8235|0.8313|0.8372|0.7619|0.8042|0.8865||||||||||0.8191|0.8259|0.8553|0.8409|0.8369|0.7692|0.7582|0.7152|0.8185|0.822|0.8721|0.8865|SAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.833:6:0,1:0,3:0,4:0,0,3,3 -chr1 914991 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=19;POPAF=7.3;TLOD=3.38;SRC=custom;GRP=custom;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs6679046|20|1||SNV|||YES|||3||||||||||||||0.5088|0.357|0.4553|0.5933|0.6014|0.5695||||||||||0.527|0.3832|0.4989|0.4847|0.6056|0.6286|0.5616|0.484|0.6029|0.5371|0.5813|0.6286|gnomADg_EAS|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs6679046|1879|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.5088|0.357|0.4553|0.5933|0.6014|0.5695||||||||||0.527|0.3832|0.4989|0.4847|0.6056|0.6286|0.5616|0.484|0.6029|0.5371|0.5813|0.6286|gnomADg_EAS|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||||||||||rs6679046|2379|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.5088|0.357|0.4553|0.5933|0.6014|0.5695||||||||||0.527|0.3832|0.4989|0.4847|0.6056|0.6286|0.5616|0.484|0.6029|0.5371|0.5813|0.6286|gnomADg_EAS|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs6679046|43|1||SNV|||YES|||2||||||||||||||0.5088|0.357|0.4553|0.5933|0.6014|0.5695||||||||||0.527|0.3832|0.4989|0.4847|0.6056|0.6286|0.5616|0.484|0.6029|0.5371|0.5813|0.6286|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.125-759G>T|||||||rs6679046||1||SNV|||YES|||4||||||||||||||0.5088|0.357|0.4553|0.5933|0.6014|0.5695||||||||||0.527|0.3832|0.4989|0.4847|0.6056|0.6286|0.5616|0.484|0.6029|0.5371|0.5813|0.6286|gnomADg_EAS|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs6679046|1874|-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.5088|0.357|0.4553|0.5933|0.6014|0.5695||||||||||0.527|0.3832|0.4989|0.4847|0.6056|0.6286|0.5616|0.484|0.6029|0.5371|0.5813|0.6286|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 915810 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C3|6%2C4;DP=16;ECNT=2;GERMQ=35;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=78;POPAF=7.3;TLOD=48.47;SRC=custom;GRP=custom;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs28609852|839|1||SNV|||YES|||3||||||||||||||0.2410|0.3427|0.2709|0.1052|0.1958|0.2689||||||||||0.2397|0.312|0.3575|0.2562|0.2072|0.09645|0.1867|0.1994|0.2105|0.2392|0.253|0.3575|gnomADg_AMI|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs28609852|1060|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.2410|0.3427|0.2709|0.1052|0.1958|0.2689||||||||||0.2397|0.312|0.3575|0.2562|0.2072|0.09645|0.1867|0.1994|0.2105|0.2392|0.253|0.3575|gnomADg_AMI|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||||||||||rs28609852|1560|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.2410|0.3427|0.2709|0.1052|0.1958|0.2689||||||||||0.2397|0.312|0.3575|0.2562|0.2072|0.09645|0.1867|0.1994|0.2105|0.2392|0.253|0.3575|gnomADg_AMI|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs28609852|862|1||SNV|||YES|||2||||||||||||||0.2410|0.3427|0.2709|0.1052|0.1958|0.2689||||||||||0.2397|0.312|0.3575|0.2562|0.2072|0.09645|0.1867|0.1994|0.2105|0.2392|0.253|0.3575|gnomADg_AMI|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA|2/2||ENST00000607769.1:n.185G>A||185|||||rs28609852||1||SNV|||YES|||4||||||||||||||0.2410|0.3427|0.2709|0.1052|0.1958|0.2689||||||||||0.2397|0.312|0.3575|0.2562|0.2072|0.09645|0.1867|0.1994|0.2105|0.2392|0.253|0.3575|gnomADg_AMI|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs28609852|1055|-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.2410|0.3427|0.2709|0.1052|0.1958|0.2689||||||||||0.2397|0.312|0.3575|0.2562|0.2072|0.09645|0.1867|0.1994|0.2105|0.2392|0.253|0.3575|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:6,10:0.636:16:0,0:3,6:3,6:0|1:915810_G_A:915810:3,3,6,4 -chr1 915810 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5%2C5|1%2C1;DP=12;ECNT=2;GERMQ=48;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=37;POPAF=7.3;TLOD=7.38;SRC=custom;GRP=custom;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs28609852|839|1||SNV|||YES|||3||||||||||||||0.2410|0.3427|0.2709|0.1052|0.1958|0.2689||||||||||0.2397|0.312|0.3575|0.2562|0.2072|0.09645|0.1867|0.1994|0.2105|0.2392|0.253|0.3575|gnomADg_AMI|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs28609852|1060|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.2410|0.3427|0.2709|0.1052|0.1958|0.2689||||||||||0.2397|0.312|0.3575|0.2562|0.2072|0.09645|0.1867|0.1994|0.2105|0.2392|0.253|0.3575|gnomADg_AMI|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||||||||||rs28609852|1560|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.2410|0.3427|0.2709|0.1052|0.1958|0.2689||||||||||0.2397|0.312|0.3575|0.2562|0.2072|0.09645|0.1867|0.1994|0.2105|0.2392|0.253|0.3575|gnomADg_AMI|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs28609852|862|1||SNV|||YES|||2||||||||||||||0.2410|0.3427|0.2709|0.1052|0.1958|0.2689||||||||||0.2397|0.312|0.3575|0.2562|0.2072|0.09645|0.1867|0.1994|0.2105|0.2392|0.253|0.3575|gnomADg_AMI|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA|2/2||ENST00000607769.1:n.185G>A||185|||||rs28609852||1||SNV|||YES|||4||||||||||||||0.2410|0.3427|0.2709|0.1052|0.1958|0.2689||||||||||0.2397|0.312|0.3575|0.2562|0.2072|0.09645|0.1867|0.1994|0.2105|0.2392|0.253|0.3575|gnomADg_AMI|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs28609852|1055|-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.2410|0.3427|0.2709|0.1052|0.1958|0.2689||||||||||0.2397|0.312|0.3575|0.2562|0.2072|0.09645|0.1867|0.1994|0.2105|0.2392|0.253|0.3575|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:10,2:0.25:12:0,0:5,1:5,1:0|1:915810_G_A:915810:5,5,1,1 -chr1 915824 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C3|7%2C7;DP=20;ECNT=2;GERMQ=39;MBQ=35,35;MFRL=0,0;MMQ=60,60;MPOS=82;POPAF=7.3;TLOD=55.04;SRC=custom;GRP=custom;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs28552953|853|1||SNV|||YES|||3||||||||||||||0.2666|0.4274|0.2795|0.1052|0.2028|0.272||||||||||0.2713|0.3989|0.3564|0.2679|0.2189|0.09653|0.1933|0.212|0.2233|0.2581|0.2568|0.4274|AFR|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs28552953|1046|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.2666|0.4274|0.2795|0.1052|0.2028|0.272||||||||||0.2713|0.3989|0.3564|0.2679|0.2189|0.09653|0.1933|0.212|0.2233|0.2581|0.2568|0.4274|AFR|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||||||||||rs28552953|1546|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.2666|0.4274|0.2795|0.1052|0.2028|0.272||||||||||0.2713|0.3989|0.3564|0.2679|0.2189|0.09653|0.1933|0.212|0.2233|0.2581|0.2568|0.4274|AFR|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs28552953|876|1||SNV|||YES|||2||||||||||||||0.2666|0.4274|0.2795|0.1052|0.2028|0.272||||||||||0.2713|0.3989|0.3564|0.2679|0.2189|0.09653|0.1933|0.212|0.2233|0.2581|0.2568|0.4274|AFR|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA|2/2||ENST00000607769.1:n.199G>C||199|||||rs28552953||1||SNV|||YES|||4||||||||||||||0.2666|0.4274|0.2795|0.1052|0.2028|0.272||||||||||0.2713|0.3989|0.3564|0.2679|0.2189|0.09653|0.1933|0.212|0.2233|0.2581|0.2568|0.4274|AFR|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs28552953|1041|-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.2666|0.4274|0.2795|0.1052|0.2028|0.272||||||||||0.2713|0.3989|0.3564|0.2679|0.2189|0.09653|0.1933|0.212|0.2233|0.2581|0.2568|0.4274|AFR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:6,14:0.667:20:0,0:3,7:3,7:0|1:915810_G_A:915810:3,3,7,7 -chr1 915824 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5%2C5|1%2C1;DP=12;ECNT=2;GERMQ=48;MBQ=34,35;MFRL=0,0;MMQ=60,60;MPOS=51;POPAF=7.3;TLOD=7.38;SRC=custom;GRP=custom;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs28552953|853|1||SNV|||YES|||3||||||||||||||0.2666|0.4274|0.2795|0.1052|0.2028|0.272||||||||||0.2713|0.3989|0.3564|0.2679|0.2189|0.09653|0.1933|0.212|0.2233|0.2581|0.2568|0.4274|AFR|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs28552953|1046|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.2666|0.4274|0.2795|0.1052|0.2028|0.272||||||||||0.2713|0.3989|0.3564|0.2679|0.2189|0.09653|0.1933|0.212|0.2233|0.2581|0.2568|0.4274|AFR|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||||||||||rs28552953|1546|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.2666|0.4274|0.2795|0.1052|0.2028|0.272||||||||||0.2713|0.3989|0.3564|0.2679|0.2189|0.09653|0.1933|0.212|0.2233|0.2581|0.2568|0.4274|AFR|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs28552953|876|1||SNV|||YES|||2||||||||||||||0.2666|0.4274|0.2795|0.1052|0.2028|0.272||||||||||0.2713|0.3989|0.3564|0.2679|0.2189|0.09653|0.1933|0.212|0.2233|0.2581|0.2568|0.4274|AFR|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA|2/2||ENST00000607769.1:n.199G>C||199|||||rs28552953||1||SNV|||YES|||4||||||||||||||0.2666|0.4274|0.2795|0.1052|0.2028|0.272||||||||||0.2713|0.3989|0.3564|0.2679|0.2189|0.09653|0.1933|0.212|0.2233|0.2581|0.2568|0.4274|AFR|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs28552953|1041|-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.2666|0.4274|0.2795|0.1052|0.2028|0.272||||||||||0.2713|0.3989|0.3564|0.2679|0.2189|0.09653|0.1933|0.212|0.2233|0.2581|0.2568|0.4274|AFR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:10,2:0.25:12:0,0:5,1:5,1:0|1:915810_G_A:915810:5,5,1,1 -chr1 916119 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C1;DP=5;ECNT=1;GERMQ=55;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=32;POPAF=7.3;TLOD=17.69;SRC=custom;GRP=custom;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs4970465|1148|1||SNV|||YES|||3||||||||||||||0.8281|0.8033|0.8357|0.8413|0.7982|0.8732||||||||||0.8129|0.7997|0.8553|0.8382|0.8225|0.8523|0.7561|0.7152|0.8161|0.8223|0.8707|0.8732|SAS|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs4970465|751|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.8281|0.8033|0.8357|0.8413|0.7982|0.8732||||||||||0.8129|0.7997|0.8553|0.8382|0.8225|0.8523|0.7561|0.7152|0.8161|0.8223|0.8707|0.8732|SAS|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||||||||||rs4970465|1251|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.8281|0.8033|0.8357|0.8413|0.7982|0.8732||||||||||0.8129|0.7997|0.8553|0.8382|0.8225|0.8523|0.7561|0.7152|0.8161|0.8223|0.8707|0.8732|SAS|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs4970465|1171|1||SNV|||YES|||2||||||||||||||0.8281|0.8033|0.8357|0.8413|0.7982|0.8732||||||||||0.8129|0.7997|0.8553|0.8382|0.8225|0.8523|0.7561|0.7152|0.8161|0.8223|0.8707|0.8732|SAS|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||||||||||rs4970465|143|1||SNV|||YES|||4||||||||||||||0.8281|0.8033|0.8357|0.8413|0.7982|0.8732||||||||||0.8129|0.7997|0.8553|0.8382|0.8225|0.8523|0.7561|0.7152|0.8161|0.8223|0.8707|0.8732|SAS|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs4970465|746|-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.8281|0.8033|0.8357|0.8413|0.7982|0.8732||||||||||0.8129|0.7997|0.8553|0.8382|0.8225|0.8523|0.7561|0.7152|0.8161|0.8223|0.8707|0.8732|SAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.833:5:0,0:0,4:0,4:0,0,4,1 -chr1 916119 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C3;DP=7;ECNT=1;GERMQ=58;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=43;POPAF=7.3;TLOD=20.9;SRC=custom;GRP=custom;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs4970465|1148|1||SNV|||YES|||3||||||||||||||0.8281|0.8033|0.8357|0.8413|0.7982|0.8732||||||||||0.8129|0.7997|0.8553|0.8382|0.8225|0.8523|0.7561|0.7152|0.8161|0.8223|0.8707|0.8732|SAS|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs4970465|751|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.8281|0.8033|0.8357|0.8413|0.7982|0.8732||||||||||0.8129|0.7997|0.8553|0.8382|0.8225|0.8523|0.7561|0.7152|0.8161|0.8223|0.8707|0.8732|SAS|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||||||||||rs4970465|1251|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.8281|0.8033|0.8357|0.8413|0.7982|0.8732||||||||||0.8129|0.7997|0.8553|0.8382|0.8225|0.8523|0.7561|0.7152|0.8161|0.8223|0.8707|0.8732|SAS|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs4970465|1171|1||SNV|||YES|||2||||||||||||||0.8281|0.8033|0.8357|0.8413|0.7982|0.8732||||||||||0.8129|0.7997|0.8553|0.8382|0.8225|0.8523|0.7561|0.7152|0.8161|0.8223|0.8707|0.8732|SAS|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||||||||||rs4970465|143|1||SNV|||YES|||4||||||||||||||0.8281|0.8033|0.8357|0.8413|0.7982|0.8732||||||||||0.8129|0.7997|0.8553|0.8382|0.8225|0.8523|0.7561|0.7152|0.8161|0.8223|0.8707|0.8732|SAS|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs4970465|746|-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.8281|0.8033|0.8357|0.8413|0.7982|0.8732||||||||||0.8129|0.7997|0.8553|0.8382|0.8225|0.8523|0.7561|0.7152|0.8161|0.8223|0.8707|0.8732|SAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.841:6:0,1:0,3:0,4:0,0,3,3 -chr1 916254 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=6%2C8|1%2C1;DP=16;ECNT=1;GERMQ=57;MBQ=33,31;MFRL=0,0;MMQ=60,60;MPOS=131;POPAF=7.3;TLOD=5.2;SRC=custom;GRP=custom;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA|||||||||||1283|1||SNV|||YES|||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA|||||||||||616|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron|||||||||||1116|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA|||||||||||1306|1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA|||||||||||278|1||SNV|||YES|||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron|||||||||||611|-1||SNV|HGNC|HGNC:53933|||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:14,2:0.182:16:2,0:6,1:8,1:6,8,1,1 -chr1 916377 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=1;GERMQ=52;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=28;POPAF=7.3;TLOD=14.71;SRC=custom;GRP=custom;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs4970464|1406|1||SNV|||YES|||3||||||||||||||0.9956|0.9841|0.9986|1|1|1||||||||||0.9904|0.9686|1|0.9934|0.9991|0.9994|0.9999|0.9968|0.9995|0.9928|0.9983|1|EAS&EUR&SAS&gnomADg_AMI|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs4970464|493|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.9956|0.9841|0.9986|1|1|1||||||||||0.9904|0.9686|1|0.9934|0.9991|0.9994|0.9999|0.9968|0.9995|0.9928|0.9983|1|EAS&EUR&SAS&gnomADg_AMI|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||||||||||rs4970464|993|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.9956|0.9841|0.9986|1|1|1||||||||||0.9904|0.9686|1|0.9934|0.9991|0.9994|0.9999|0.9968|0.9995|0.9928|0.9983|1|EAS&EUR&SAS&gnomADg_AMI|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs4970464|1429|1||SNV|||YES|||2||||||||||||||0.9956|0.9841|0.9986|1|1|1||||||||||0.9904|0.9686|1|0.9934|0.9991|0.9994|0.9999|0.9968|0.9995|0.9928|0.9983|1|EAS&EUR&SAS&gnomADg_AMI|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||||||||||rs4970464|401|1||SNV|||YES|||4||||||||||||||0.9956|0.9841|0.9986|1|1|1||||||||||0.9904|0.9686|1|0.9934|0.9991|0.9994|0.9999|0.9968|0.9995|0.9928|0.9983|1|EAS&EUR&SAS&gnomADg_AMI|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs4970464|488|-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.9956|0.9841|0.9986|1|1|1||||||||||0.9904|0.9686|1|0.9934|0.9991|0.9994|0.9999|0.9968|0.9995|0.9928|0.9983|1|EAS&EUR&SAS&gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.8:4:0,1:0,2:0,3:0,0,2,2 -chr1 916377 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=1;GERMQ=50;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=92;POPAF=7.3;TLOD=10.73;SRC=custom;GRP=custom;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs4970464|1406|1||SNV|||YES|||3||||||||||||||0.9956|0.9841|0.9986|1|1|1||||||||||0.9904|0.9686|1|0.9934|0.9991|0.9994|0.9999|0.9968|0.9995|0.9928|0.9983|1|EAS&EUR&SAS&gnomADg_AMI|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs4970464|493|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.9956|0.9841|0.9986|1|1|1||||||||||0.9904|0.9686|1|0.9934|0.9991|0.9994|0.9999|0.9968|0.9995|0.9928|0.9983|1|EAS&EUR&SAS&gnomADg_AMI|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||||||||||rs4970464|993|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.9956|0.9841|0.9986|1|1|1||||||||||0.9904|0.9686|1|0.9934|0.9991|0.9994|0.9999|0.9968|0.9995|0.9928|0.9983|1|EAS&EUR&SAS&gnomADg_AMI|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs4970464|1429|1||SNV|||YES|||2||||||||||||||0.9956|0.9841|0.9986|1|1|1||||||||||0.9904|0.9686|1|0.9934|0.9991|0.9994|0.9999|0.9968|0.9995|0.9928|0.9983|1|EAS&EUR&SAS&gnomADg_AMI|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||||||||||rs4970464|401|1||SNV|||YES|||4||||||||||||||0.9956|0.9841|0.9986|1|1|1||||||||||0.9904|0.9686|1|0.9934|0.9991|0.9994|0.9999|0.9968|0.9995|0.9928|0.9983|1|EAS&EUR&SAS&gnomADg_AMI|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs4970464|488|-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.9956|0.9841|0.9986|1|1|1||||||||||0.9904|0.9686|1|0.9934|0.9991|0.9994|0.9999|0.9968|0.9995|0.9928|0.9983|1|EAS&EUR&SAS&gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,1:0,1:0,2:0,0,1,2 -chr1 916657 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=2%2C2|6%2C7;DP=18;ECNT=3;GERMQ=42;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=87;POPAF=7.3;TLOD=45.17;SRC=custom;GRP=custom;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs4970463|1686|1||SNV|||YES|||3||||||||||||||0.3450|0.0658|0.4294|0.2798|0.5885|0.4796||||||||||0.4286|0.1327|0.4681|0.4432|0.584|0.3115|0.5235|0.4462|0.5854|0.4565|0.4932|0.5885|EUR|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs4970463|213|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.3450|0.0658|0.4294|0.2798|0.5885|0.4796||||||||||0.4286|0.1327|0.4681|0.4432|0.584|0.3115|0.5235|0.4462|0.5854|0.4565|0.4932|0.5885|EUR|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||||||||||rs4970463|713|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.3450|0.0658|0.4294|0.2798|0.5885|0.4796||||||||||0.4286|0.1327|0.4681|0.4432|0.584|0.3115|0.5235|0.4462|0.5854|0.4565|0.4932|0.5885|EUR|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs4970463|1709|1||SNV|||YES|||2||||||||||||||0.3450|0.0658|0.4294|0.2798|0.5885|0.4796||||||||||0.4286|0.1327|0.4681|0.4432|0.584|0.3115|0.5235|0.4462|0.5854|0.4565|0.4932|0.5885|EUR|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||||||||||rs4970463|681|1||SNV|||YES|||4||||||||||||||0.3450|0.0658|0.4294|0.2798|0.5885|0.4796||||||||||0.4286|0.1327|0.4681|0.4432|0.584|0.3115|0.5235|0.4462|0.5854|0.4565|0.4932|0.5885|EUR|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs4970463|208|-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.3450|0.0658|0.4294|0.2798|0.5885|0.4796||||||||||0.4286|0.1327|0.4681|0.4432|0.584|0.3115|0.5235|0.4462|0.5854|0.4565|0.4932|0.5885|EUR|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918365|enhancer||||||||||rs4970463||||SNV||||||||||||||||||||0.3450|0.0658|0.4294|0.2798|0.5885|0.4796||||||||||0.4286|0.1327|0.4681|0.4432|0.584|0.3115|0.5235|0.4462|0.5854|0.4565|0.4932|0.5885|EUR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,13:0.692:17:1,1:2,6:3,8:2,2,6,7 -chr1 916683 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=3%2C3|4%2C5;DP=16;ECNT=3;GERMQ=35;MBQ=32,32;MFRL=0,0;MMQ=60,60;MPOS=90;POPAF=7.3;TLOD=30.17;SRC=custom;GRP=custom;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs28436996|1712|1||SNV|||YES|||3||||||||||||||0.3448|0.0658|0.4294|0.2798|0.5875|0.4796||||||||||0.4292|0.1329|0.4682|0.4429|0.5833|0.3139|0.5276|0.4462|0.5857|0.4577|0.4965|0.5875|EUR|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs28436996|187|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.3448|0.0658|0.4294|0.2798|0.5875|0.4796||||||||||0.4292|0.1329|0.4682|0.4429|0.5833|0.3139|0.5276|0.4462|0.5857|0.4577|0.4965|0.5875|EUR|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||||||||||rs28436996|687|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.3448|0.0658|0.4294|0.2798|0.5875|0.4796||||||||||0.4292|0.1329|0.4682|0.4429|0.5833|0.3139|0.5276|0.4462|0.5857|0.4577|0.4965|0.5875|EUR|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs28436996|1735|1||SNV|||YES|||2||||||||||||||0.3448|0.0658|0.4294|0.2798|0.5875|0.4796||||||||||0.4292|0.1329|0.4682|0.4429|0.5833|0.3139|0.5276|0.4462|0.5857|0.4577|0.4965|0.5875|EUR|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||||||||||rs28436996|707|1||SNV|||YES|||4||||||||||||||0.3448|0.0658|0.4294|0.2798|0.5875|0.4796||||||||||0.4292|0.1329|0.4682|0.4429|0.5833|0.3139|0.5276|0.4462|0.5857|0.4577|0.4965|0.5875|EUR|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs28436996|182|-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.3448|0.0658|0.4294|0.2798|0.5875|0.4796||||||||||0.4292|0.1329|0.4682|0.4429|0.5833|0.3139|0.5276|0.4462|0.5857|0.4577|0.4965|0.5875|EUR|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918365|enhancer||||||||||rs28436996||||SNV||||||||||||||||||||0.3448|0.0658|0.4294|0.2798|0.5875|0.4796||||||||||0.4292|0.1329|0.4682|0.4429|0.5833|0.3139|0.5276|0.4462|0.5857|0.4577|0.4965|0.5875|EUR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,9:0.546:15:1,1:3,4:4,5:3,3,4,5 -chr1 916753 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|5%2C7;DP=12;ECNT=3;GERMQ=75;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=78;POPAF=7.3;TLOD=43.87;SRC=custom;GRP=custom;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs7518702|1782|1||SNV|||YES|||3||||||||||||||0.7288|0.6248|0.7219|0.6994|0.7952|0.8364||||||||||0.75|0.6348|0.8553|0.7356|0.8131|0.7261|0.7522|0.6994|0.8138|0.7706|0.8351|0.8553|gnomADg_AMI|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs7518702|117|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.7288|0.6248|0.7219|0.6994|0.7952|0.8364||||||||||0.75|0.6348|0.8553|0.7356|0.8131|0.7261|0.7522|0.6994|0.8138|0.7706|0.8351|0.8553|gnomADg_AMI|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||||||||||rs7518702|617|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.7288|0.6248|0.7219|0.6994|0.7952|0.8364||||||||||0.75|0.6348|0.8553|0.7356|0.8131|0.7261|0.7522|0.6994|0.8138|0.7706|0.8351|0.8553|gnomADg_AMI|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs7518702|1805|1||SNV|||YES|||2||||||||||||||0.7288|0.6248|0.7219|0.6994|0.7952|0.8364||||||||||0.75|0.6348|0.8553|0.7356|0.8131|0.7261|0.7522|0.6994|0.8138|0.7706|0.8351|0.8553|gnomADg_AMI|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||||||||||rs7518702|777|1||SNV|||YES|||4||||||||||||||0.7288|0.6248|0.7219|0.6994|0.7952|0.8364||||||||||0.75|0.6348|0.8553|0.7356|0.8131|0.7261|0.7522|0.6994|0.8138|0.7706|0.8351|0.8553|gnomADg_AMI|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs7518702|112|-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.7288|0.6248|0.7219|0.6994|0.7952|0.8364||||||||||0.75|0.6348|0.8553|0.7356|0.8131|0.7261|0.7522|0.6994|0.8138|0.7706|0.8351|0.8553|gnomADg_AMI|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918365|enhancer||||||||||rs7518702||||SNV||||||||||||||||||||0.7288|0.6248|0.7219|0.6994|0.7952|0.8364||||||||||0.75|0.6348|0.8553|0.7356|0.8131|0.7261|0.7522|0.6994|0.8138|0.7706|0.8351|0.8553|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,12:0.9:12:0,1:0,5:0,8:0,0,5,7 -chr1 916753 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=1;GERMQ=52;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=57;POPAF=7.3;TLOD=14.4;SRC=custom;GRP=custom;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs7518702|1782|1||SNV|||YES|||3||||||||||||||0.7288|0.6248|0.7219|0.6994|0.7952|0.8364||||||||||0.75|0.6348|0.8553|0.7356|0.8131|0.7261|0.7522|0.6994|0.8138|0.7706|0.8351|0.8553|gnomADg_AMI|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs7518702|117|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.7288|0.6248|0.7219|0.6994|0.7952|0.8364||||||||||0.75|0.6348|0.8553|0.7356|0.8131|0.7261|0.7522|0.6994|0.8138|0.7706|0.8351|0.8553|gnomADg_AMI|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||||||||||rs7518702|617|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.7288|0.6248|0.7219|0.6994|0.7952|0.8364||||||||||0.75|0.6348|0.8553|0.7356|0.8131|0.7261|0.7522|0.6994|0.8138|0.7706|0.8351|0.8553|gnomADg_AMI|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs7518702|1805|1||SNV|||YES|||2||||||||||||||0.7288|0.6248|0.7219|0.6994|0.7952|0.8364||||||||||0.75|0.6348|0.8553|0.7356|0.8131|0.7261|0.7522|0.6994|0.8138|0.7706|0.8351|0.8553|gnomADg_AMI|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||||||||||rs7518702|777|1||SNV|||YES|||4||||||||||||||0.7288|0.6248|0.7219|0.6994|0.7952|0.8364||||||||||0.75|0.6348|0.8553|0.7356|0.8131|0.7261|0.7522|0.6994|0.8138|0.7706|0.8351|0.8553|gnomADg_AMI|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs7518702|112|-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.7288|0.6248|0.7219|0.6994|0.7952|0.8364||||||||||0.75|0.6348|0.8553|0.7356|0.8131|0.7261|0.7522|0.6994|0.8138|0.7706|0.8351|0.8553|gnomADg_AMI|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918365|enhancer||||||||||rs7518702||||SNV||||||||||||||||||||0.7288|0.6248|0.7219|0.6994|0.7952|0.8364||||||||||0.75|0.6348|0.8553|0.7356|0.8131|0.7261|0.7522|0.6994|0.8138|0.7706|0.8351|0.8553|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 917166 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=11%2C8|1%2C1;DP=21;ECNT=1;GERMQ=69;MBQ=34,31;MFRL=0,0;MMQ=60,60;MPOS=122;POPAF=7.3;TLOD=4.86;SRC=custom;GRP=custom;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA|||||||||||2195|1||SNV|||YES|||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA|4/4||ENST00000417705.1:n.1093G>A||1093|||||||-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron|||||||||||204|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA|||||||||||2218|1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA|||||||||||1190|1||SNV|||YES|||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron|1/1||ENST00000609207.1:n.3851G>A||3851|||||||-1||SNV|HGNC|HGNC:53933||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918365|enhancer||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:19,2:0.143:21:0,0:11,1:11,1:11,8,1,1 -chr1 917284 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C3|2%2C3;DP=11;ECNT=2;GERMQ=36;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=65;POPAF=7.3;TLOD=15.64;SRC=custom;GRP=custom;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs28605311|2313|1||SNV|||YES|||3||||||||||||||0.1739|0.115|0.2349|0.1052|0.1859|0.2689||||||||||0.1808|0.1268|0.3571|0.2187|0.1961|0.09571|0.1825|0.1815|0.2031|0.186|0.2513|0.3571|gnomADg_AMI|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA|4/4||ENST00000417705.1:n.975G>A||975|||||rs28605311||-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.1739|0.115|0.2349|0.1052|0.1859|0.2689||||||||||0.1808|0.1268|0.3571|0.2187|0.1961|0.09571|0.1825|0.1815|0.2031|0.186|0.2513|0.3571|gnomADg_AMI|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||||||||||rs28605311|86|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.1739|0.115|0.2349|0.1052|0.1859|0.2689||||||||||0.1808|0.1268|0.3571|0.2187|0.1961|0.09571|0.1825|0.1815|0.2031|0.186|0.2513|0.3571|gnomADg_AMI|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs28605311|2336|1||SNV|||YES|||2||||||||||||||0.1739|0.115|0.2349|0.1052|0.1859|0.2689||||||||||0.1808|0.1268|0.3571|0.2187|0.1961|0.09571|0.1825|0.1815|0.2031|0.186|0.2513|0.3571|gnomADg_AMI|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||||||||||rs28605311|1308|1||SNV|||YES|||4||||||||||||||0.1739|0.115|0.2349|0.1052|0.1859|0.2689||||||||||0.1808|0.1268|0.3571|0.2187|0.1961|0.09571|0.1825|0.1815|0.2031|0.186|0.2513|0.3571|gnomADg_AMI|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron|1/1||ENST00000609207.1:n.3733G>A||3733|||||rs28605311||-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.1739|0.115|0.2349|0.1052|0.1859|0.2689||||||||||0.1808|0.1268|0.3571|0.2187|0.1961|0.09571|0.1825|0.1815|0.2031|0.186|0.2513|0.3571|gnomADg_AMI|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918365|enhancer||||||||||rs28605311||||SNV||||||||||||||||||||0.1739|0.115|0.2349|0.1052|0.1859|0.2689||||||||||0.1808|0.1268|0.3571|0.2187|0.1961|0.09571|0.1825|0.1815|0.2031|0.186|0.2513|0.3571|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,5:0.444:11:1,1:3,2:4,3:3,3,2,3 -chr1 917284 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4%2C5|4%2C2;DP=15;ECNT=2;GERMQ=37;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=116;POPAF=7.3;TLOD=18.96;SRC=custom;GRP=custom;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs28605311|2313|1||SNV|||YES|||3||||||||||||||0.1739|0.115|0.2349|0.1052|0.1859|0.2689||||||||||0.1808|0.1268|0.3571|0.2187|0.1961|0.09571|0.1825|0.1815|0.2031|0.186|0.2513|0.3571|gnomADg_AMI|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA|4/4||ENST00000417705.1:n.975G>A||975|||||rs28605311||-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.1739|0.115|0.2349|0.1052|0.1859|0.2689||||||||||0.1808|0.1268|0.3571|0.2187|0.1961|0.09571|0.1825|0.1815|0.2031|0.186|0.2513|0.3571|gnomADg_AMI|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||||||||||rs28605311|86|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.1739|0.115|0.2349|0.1052|0.1859|0.2689||||||||||0.1808|0.1268|0.3571|0.2187|0.1961|0.09571|0.1825|0.1815|0.2031|0.186|0.2513|0.3571|gnomADg_AMI|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs28605311|2336|1||SNV|||YES|||2||||||||||||||0.1739|0.115|0.2349|0.1052|0.1859|0.2689||||||||||0.1808|0.1268|0.3571|0.2187|0.1961|0.09571|0.1825|0.1815|0.2031|0.186|0.2513|0.3571|gnomADg_AMI|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||||||||||rs28605311|1308|1||SNV|||YES|||4||||||||||||||0.1739|0.115|0.2349|0.1052|0.1859|0.2689||||||||||0.1808|0.1268|0.3571|0.2187|0.1961|0.09571|0.1825|0.1815|0.2031|0.186|0.2513|0.3571|gnomADg_AMI|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron|1/1||ENST00000609207.1:n.3733G>A||3733|||||rs28605311||-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.1739|0.115|0.2349|0.1052|0.1859|0.2689||||||||||0.1808|0.1268|0.3571|0.2187|0.1961|0.09571|0.1825|0.1815|0.2031|0.186|0.2513|0.3571|gnomADg_AMI|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918365|enhancer||||||||||rs28605311||||SNV||||||||||||||||||||0.1739|0.115|0.2349|0.1052|0.1859|0.2689||||||||||0.1808|0.1268|0.3571|0.2187|0.1961|0.09571|0.1825|0.1815|0.2031|0.186|0.2513|0.3571|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:9,6:0.455:15:1,0:4,4:5,4:4,5,4,2 -chr1 917378 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=8%2C6|4%2C1;DP=19;ECNT=2;GERMQ=45;MBQ=34,35;MFRL=0,0;MMQ=60,60;MPOS=73;POPAF=7.3;TLOD=15.48;SRC=custom;GRP=custom;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs4970462|2407|1||SNV|||YES|||3||||||||||||||0.1552|0.0446|0.2305|0.1052|0.1879|0.2689||||||||||0.164|0.06788|0.3557|0.2129|0.1961|0.09625|0.1825|0.1867|0.2033|0.1739|0.2503|0.3557|gnomADg_AMI|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA|4/4||ENST00000417705.1:n.881C>G||881|||||rs4970462||-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.1552|0.0446|0.2305|0.1052|0.1879|0.2689||||||||||0.164|0.06788|0.3557|0.2129|0.1961|0.09625|0.1825|0.1867|0.2033|0.1739|0.2503|0.3557|gnomADg_AMI|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron|2/2||ENST00000432961.1:n.622C>G||622|||||rs4970462||-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.1552|0.0446|0.2305|0.1052|0.1879|0.2689||||||||||0.164|0.06788|0.3557|0.2129|0.1961|0.09625|0.1825|0.1867|0.2033|0.1739|0.2503|0.3557|gnomADg_AMI|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs4970462|2430|1||SNV|||YES|||2||||||||||||||0.1552|0.0446|0.2305|0.1052|0.1879|0.2689||||||||||0.164|0.06788|0.3557|0.2129|0.1961|0.09625|0.1825|0.1867|0.2033|0.1739|0.2503|0.3557|gnomADg_AMI|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||||||||||rs4970462|1402|1||SNV|||YES|||4||||||||||||||0.1552|0.0446|0.2305|0.1052|0.1879|0.2689||||||||||0.164|0.06788|0.3557|0.2129|0.1961|0.09625|0.1825|0.1867|0.2033|0.1739|0.2503|0.3557|gnomADg_AMI|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron|1/1||ENST00000609207.1:n.3639C>G||3639|||||rs4970462||-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.1552|0.0446|0.2305|0.1052|0.1879|0.2689||||||||||0.164|0.06788|0.3557|0.2129|0.1961|0.09625|0.1825|0.1867|0.2033|0.1739|0.2503|0.3557|gnomADg_AMI|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918365|enhancer||||||||||rs4970462||||SNV||||||||||||||||||||0.1552|0.0446|0.2305|0.1052|0.1879|0.2689||||||||||0.164|0.06788|0.3557|0.2129|0.1961|0.09625|0.1825|0.1867|0.2033|0.1739|0.2503|0.3557|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:14,5:0.333:19:1,0:8,4:9,4:8,6,4,1 -chr1 917378 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=6%2C5|5%2C4;DP=20;ECNT=2;GERMQ=35;MBQ=34,32;MFRL=0,0;MMQ=60,60;MPOS=34;POPAF=7.3;TLOD=27.09;SRC=custom;GRP=custom;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs4970462|2407|1||SNV|||YES|||3||||||||||||||0.1552|0.0446|0.2305|0.1052|0.1879|0.2689||||||||||0.164|0.06788|0.3557|0.2129|0.1961|0.09625|0.1825|0.1867|0.2033|0.1739|0.2503|0.3557|gnomADg_AMI|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA|4/4||ENST00000417705.1:n.881C>G||881|||||rs4970462||-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.1552|0.0446|0.2305|0.1052|0.1879|0.2689||||||||||0.164|0.06788|0.3557|0.2129|0.1961|0.09625|0.1825|0.1867|0.2033|0.1739|0.2503|0.3557|gnomADg_AMI|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron|2/2||ENST00000432961.1:n.622C>G||622|||||rs4970462||-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.1552|0.0446|0.2305|0.1052|0.1879|0.2689||||||||||0.164|0.06788|0.3557|0.2129|0.1961|0.09625|0.1825|0.1867|0.2033|0.1739|0.2503|0.3557|gnomADg_AMI|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs4970462|2430|1||SNV|||YES|||2||||||||||||||0.1552|0.0446|0.2305|0.1052|0.1879|0.2689||||||||||0.164|0.06788|0.3557|0.2129|0.1961|0.09625|0.1825|0.1867|0.2033|0.1739|0.2503|0.3557|gnomADg_AMI|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||||||||||rs4970462|1402|1||SNV|||YES|||4||||||||||||||0.1552|0.0446|0.2305|0.1052|0.1879|0.2689||||||||||0.164|0.06788|0.3557|0.2129|0.1961|0.09625|0.1825|0.1867|0.2033|0.1739|0.2503|0.3557|gnomADg_AMI|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron|1/1||ENST00000609207.1:n.3639C>G||3639|||||rs4970462||-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.1552|0.0446|0.2305|0.1052|0.1879|0.2689||||||||||0.164|0.06788|0.3557|0.2129|0.1961|0.09625|0.1825|0.1867|0.2033|0.1739|0.2503|0.3557|gnomADg_AMI|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918365|enhancer||||||||||rs4970462||||SNV||||||||||||||||||||0.1552|0.0446|0.2305|0.1052|0.1879|0.2689||||||||||0.164|0.06788|0.3557|0.2129|0.1961|0.09625|0.1825|0.1867|0.2033|0.1739|0.2503|0.3557|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:11,9:0.5:20:0,1:5,4:6,6:6,5,5,4 -chr1 917495 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4%2C4|7%2C8;DP=23;ECNT=1;GERMQ=37;MBQ=34,32;MFRL=0,0;MMQ=60,60;MPOS=26;POPAF=7.3;TLOD=45.76;SRC=custom;GRP=custom;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs13303369|2524|1||SNV|||YES|||3||||||||||||||0.4942|0.3079|0.4553|0.5853|0.6024|0.5685||||||||||0.5199|0.345|0.4989|0.4886|0.6118|0.6224|0.5697|0.4873|0.6083|0.5384|0.5843|0.6224|gnomADg_EAS|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA|4/4||ENST00000417705.1:n.764G>A||764|||||rs13303369||-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.4942|0.3079|0.4553|0.5853|0.6024|0.5685||||||||||0.5199|0.345|0.4989|0.4886|0.6118|0.6224|0.5697|0.4873|0.6083|0.5384|0.5843|0.6224|gnomADg_EAS|||||||||||||,T|splice_polypyrimidine_tract_variant&intron_variant&non_coding_transcript_variant|LOW|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||1/1|ENST00000432961.1:n.514-9G>A|||||||rs13303369||-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.4942|0.3079|0.4553|0.5853|0.6024|0.5685||||||||||0.5199|0.345|0.4989|0.4886|0.6118|0.6224|0.5697|0.4873|0.6083|0.5384|0.5843|0.6224|gnomADg_EAS|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs13303369|2547|1||SNV|||YES|||2||||||||||||||0.4942|0.3079|0.4553|0.5853|0.6024|0.5685||||||||||0.5199|0.345|0.4989|0.4886|0.6118|0.6224|0.5697|0.4873|0.6083|0.5384|0.5843|0.6224|gnomADg_EAS|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||||||||||rs13303369|1519|1||SNV|||YES|||4||||||||||||||0.4942|0.3079|0.4553|0.5853|0.6024|0.5685||||||||||0.5199|0.345|0.4989|0.4886|0.6118|0.6224|0.5697|0.4873|0.6083|0.5384|0.5843|0.6224|gnomADg_EAS|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron|1/1||ENST00000609207.1:n.3522G>A||3522|||||rs13303369||-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.4942|0.3079|0.4553|0.5853|0.6024|0.5685||||||||||0.5199|0.345|0.4989|0.4886|0.6118|0.6224|0.5697|0.4873|0.6083|0.5384|0.5843|0.6224|gnomADg_EAS|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918365|enhancer||||||||||rs13303369||||SNV||||||||||||||||||||0.4942|0.3079|0.4553|0.5853|0.6024|0.5685||||||||||0.5199|0.345|0.4989|0.4886|0.6118|0.6224|0.5697|0.4873|0.6083|0.5384|0.5843|0.6224|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:8,15:0.6:23:1,1:4,6:5,8:4,4,7,8 -chr1 917495 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5%2C3|9%2C9;DP=26;ECNT=2;GERMQ=40;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=69;POPAF=7.3;TLOD=60.86;SRC=custom;GRP=custom;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs13303369|2524|1||SNV|||YES|||3||||||||||||||0.4942|0.3079|0.4553|0.5853|0.6024|0.5685||||||||||0.5199|0.345|0.4989|0.4886|0.6118|0.6224|0.5697|0.4873|0.6083|0.5384|0.5843|0.6224|gnomADg_EAS|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA|4/4||ENST00000417705.1:n.764G>A||764|||||rs13303369||-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.4942|0.3079|0.4553|0.5853|0.6024|0.5685||||||||||0.5199|0.345|0.4989|0.4886|0.6118|0.6224|0.5697|0.4873|0.6083|0.5384|0.5843|0.6224|gnomADg_EAS|||||||||||||,T|splice_polypyrimidine_tract_variant&intron_variant&non_coding_transcript_variant|LOW|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||1/1|ENST00000432961.1:n.514-9G>A|||||||rs13303369||-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.4942|0.3079|0.4553|0.5853|0.6024|0.5685||||||||||0.5199|0.345|0.4989|0.4886|0.6118|0.6224|0.5697|0.4873|0.6083|0.5384|0.5843|0.6224|gnomADg_EAS|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs13303369|2547|1||SNV|||YES|||2||||||||||||||0.4942|0.3079|0.4553|0.5853|0.6024|0.5685||||||||||0.5199|0.345|0.4989|0.4886|0.6118|0.6224|0.5697|0.4873|0.6083|0.5384|0.5843|0.6224|gnomADg_EAS|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||||||||||rs13303369|1519|1||SNV|||YES|||4||||||||||||||0.4942|0.3079|0.4553|0.5853|0.6024|0.5685||||||||||0.5199|0.345|0.4989|0.4886|0.6118|0.6224|0.5697|0.4873|0.6083|0.5384|0.5843|0.6224|gnomADg_EAS|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron|1/1||ENST00000609207.1:n.3522G>A||3522|||||rs13303369||-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.4942|0.3079|0.4553|0.5853|0.6024|0.5685||||||||||0.5199|0.345|0.4989|0.4886|0.6118|0.6224|0.5697|0.4873|0.6083|0.5384|0.5843|0.6224|gnomADg_EAS|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918365|enhancer||||||||||rs13303369||||SNV||||||||||||||||||||0.4942|0.3079|0.4553|0.5853|0.6024|0.5685||||||||||0.5199|0.345|0.4989|0.4886|0.6118|0.6224|0.5697|0.4873|0.6083|0.5384|0.5843|0.6224|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:8,18:0.647:26:0,1:5,9:5,10:5,3,9,9 -chr1 917584 . T G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|8%2C5;DP=13;ECNT=1;GERMQ=78;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=97;POPAF=7.3;TLOD=47.3;SRC=custom;GRP=custom;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs4970461|2613|1||SNV|||YES|||3||||||||||||||0.7524|0.5363|0.7997|0.8433|0.7922|0.8763||||||||||0.7479|0.5813|0.8553|0.8049|0.8182|0.8511|0.7545|0.6879|0.8133|0.766|0.8744|0.8763|SAS|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA|4/4||ENST00000417705.1:n.675A>C||675|||||rs4970461||-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.7524|0.5363|0.7997|0.8433|0.7922|0.8763||||||||||0.7479|0.5813|0.8553|0.8049|0.8182|0.8511|0.7545|0.6879|0.8133|0.766|0.8744|0.8763|SAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||1/1|ENST00000432961.1:n.514-98A>C|||||||rs4970461||-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.7524|0.5363|0.7997|0.8433|0.7922|0.8763||||||||||0.7479|0.5813|0.8553|0.8049|0.8182|0.8511|0.7545|0.6879|0.8133|0.766|0.8744|0.8763|SAS|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs4970461|2636|1||SNV|||YES|||2||||||||||||||0.7524|0.5363|0.7997|0.8433|0.7922|0.8763||||||||||0.7479|0.5813|0.8553|0.8049|0.8182|0.8511|0.7545|0.6879|0.8133|0.766|0.8744|0.8763|SAS|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||||||||||rs4970461|1608|1||SNV|||YES|||4||||||||||||||0.7524|0.5363|0.7997|0.8433|0.7922|0.8763||||||||||0.7479|0.5813|0.8553|0.8049|0.8182|0.8511|0.7545|0.6879|0.8133|0.766|0.8744|0.8763|SAS|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron|1/1||ENST00000609207.1:n.3433A>C||3433|||||rs4970461||-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.7524|0.5363|0.7997|0.8433|0.7922|0.8763||||||||||0.7479|0.5813|0.8553|0.8049|0.8182|0.8511|0.7545|0.6879|0.8133|0.766|0.8744|0.8763|SAS|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918365|enhancer||||||||||rs4970461||||SNV||||||||||||||||||||0.7524|0.5363|0.7997|0.8433|0.7922|0.8763||||||||||0.7479|0.5813|0.8553|0.8049|0.8182|0.8511|0.7545|0.6879|0.8133|0.766|0.8744|0.8763|SAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,13:0.909:13:0,1:0,8:0,9:0,0,8,5 -chr1 917584 . T G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|8%2C11;DP=20;ECNT=2;GERMQ=93;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=61;POPAF=7.3;TLOD=66.67;SRC=custom;GRP=custom;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs4970461|2613|1||SNV|||YES|||3||||||||||||||0.7524|0.5363|0.7997|0.8433|0.7922|0.8763||||||||||0.7479|0.5813|0.8553|0.8049|0.8182|0.8511|0.7545|0.6879|0.8133|0.766|0.8744|0.8763|SAS|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA|4/4||ENST00000417705.1:n.675A>C||675|||||rs4970461||-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.7524|0.5363|0.7997|0.8433|0.7922|0.8763||||||||||0.7479|0.5813|0.8553|0.8049|0.8182|0.8511|0.7545|0.6879|0.8133|0.766|0.8744|0.8763|SAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||1/1|ENST00000432961.1:n.514-98A>C|||||||rs4970461||-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.7524|0.5363|0.7997|0.8433|0.7922|0.8763||||||||||0.7479|0.5813|0.8553|0.8049|0.8182|0.8511|0.7545|0.6879|0.8133|0.766|0.8744|0.8763|SAS|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs4970461|2636|1||SNV|||YES|||2||||||||||||||0.7524|0.5363|0.7997|0.8433|0.7922|0.8763||||||||||0.7479|0.5813|0.8553|0.8049|0.8182|0.8511|0.7545|0.6879|0.8133|0.766|0.8744|0.8763|SAS|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||||||||||rs4970461|1608|1||SNV|||YES|||4||||||||||||||0.7524|0.5363|0.7997|0.8433|0.7922|0.8763||||||||||0.7479|0.5813|0.8553|0.8049|0.8182|0.8511|0.7545|0.6879|0.8133|0.766|0.8744|0.8763|SAS|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron|1/1||ENST00000609207.1:n.3433A>C||3433|||||rs4970461||-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.7524|0.5363|0.7997|0.8433|0.7922|0.8763||||||||||0.7479|0.5813|0.8553|0.8049|0.8182|0.8511|0.7545|0.6879|0.8133|0.766|0.8744|0.8763|SAS|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918365|enhancer||||||||||rs4970461||||SNV||||||||||||||||||||0.7524|0.5363|0.7997|0.8433|0.7922|0.8763||||||||||0.7479|0.5813|0.8553|0.8049|0.8182|0.8511|0.7545|0.6879|0.8133|0.766|0.8744|0.8763|SAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,19:0.935:19:0,2:0,7:0,13:0,0,8,11 -chr1 917859 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C4|3%2C3;DP=13;ECNT=1;GERMQ=36;MBQ=32,31;MFRL=0,0;MMQ=60,60;MPOS=68;POPAF=7.3;TLOD=15.85;SRC=custom;GRP=custom;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs4970380|2888|1||SNV|||YES|||3||||||||||||||0.1579|0.0552|0.2291|0.1052|0.1879|0.2699||||||||||0.167|0.0776|0.3564|0.2138|0.1965|0.09703|0.1834|0.1867|0.2033|0.1773|0.2515|0.3564|gnomADg_AMI|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||3/3|ENST00000417705.1:n.539-139T>C|||||||rs4970380||-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.1579|0.0552|0.2291|0.1052|0.1879|0.2699||||||||||0.167|0.0776|0.3564|0.2138|0.1965|0.09703|0.1834|0.1867|0.2033|0.1773|0.2515|0.3564|gnomADg_AMI|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||1/1|ENST00000432961.1:n.513+163T>C|||||||rs4970380||-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.1579|0.0552|0.2291|0.1052|0.1879|0.2699||||||||||0.167|0.0776|0.3564|0.2138|0.1965|0.09703|0.1834|0.1867|0.2033|0.1773|0.2515|0.3564|gnomADg_AMI|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs4970380|2911|1||SNV|||YES|||2||||||||||||||0.1579|0.0552|0.2291|0.1052|0.1879|0.2699||||||||||0.167|0.0776|0.3564|0.2138|0.1965|0.09703|0.1834|0.1867|0.2033|0.1773|0.2515|0.3564|gnomADg_AMI|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||||||||||rs4970380|1883|1||SNV|||YES|||4||||||||||||||0.1579|0.0552|0.2291|0.1052|0.1879|0.2699||||||||||0.167|0.0776|0.3564|0.2138|0.1965|0.09703|0.1834|0.1867|0.2033|0.1773|0.2515|0.3564|gnomADg_AMI|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron|1/1||ENST00000609207.1:n.3158T>C||3158|||||rs4970380||-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.1579|0.0552|0.2291|0.1052|0.1879|0.2699||||||||||0.167|0.0776|0.3564|0.2138|0.1965|0.09703|0.1834|0.1867|0.2033|0.1773|0.2515|0.3564|gnomADg_AMI|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164799|enhancer||||||||||rs4970380||||SNV||||||||||||||||||||0.1579|0.0552|0.2291|0.1052|0.1879|0.2699||||||||||0.167|0.0776|0.3564|0.2138|0.1965|0.09703|0.1834|0.1867|0.2033|0.1773|0.2515|0.3564|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,6:0.4:13:2,0:3,3:5,3:3,4,3,3 -chr1 917859 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C2|1%2C1;DP=6;ECNT=1;GERMQ=39;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=57;POPAF=7.3;TLOD=6.08;SRC=custom;GRP=custom;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs4970380|2888|1||SNV|||YES|||3||||||||||||||0.1579|0.0552|0.2291|0.1052|0.1879|0.2699||||||||||0.167|0.0776|0.3564|0.2138|0.1965|0.09703|0.1834|0.1867|0.2033|0.1773|0.2515|0.3564|gnomADg_AMI|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||3/3|ENST00000417705.1:n.539-139T>C|||||||rs4970380||-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.1579|0.0552|0.2291|0.1052|0.1879|0.2699||||||||||0.167|0.0776|0.3564|0.2138|0.1965|0.09703|0.1834|0.1867|0.2033|0.1773|0.2515|0.3564|gnomADg_AMI|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||1/1|ENST00000432961.1:n.513+163T>C|||||||rs4970380||-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.1579|0.0552|0.2291|0.1052|0.1879|0.2699||||||||||0.167|0.0776|0.3564|0.2138|0.1965|0.09703|0.1834|0.1867|0.2033|0.1773|0.2515|0.3564|gnomADg_AMI|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs4970380|2911|1||SNV|||YES|||2||||||||||||||0.1579|0.0552|0.2291|0.1052|0.1879|0.2699||||||||||0.167|0.0776|0.3564|0.2138|0.1965|0.09703|0.1834|0.1867|0.2033|0.1773|0.2515|0.3564|gnomADg_AMI|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||||||||||rs4970380|1883|1||SNV|||YES|||4||||||||||||||0.1579|0.0552|0.2291|0.1052|0.1879|0.2699||||||||||0.167|0.0776|0.3564|0.2138|0.1965|0.09703|0.1834|0.1867|0.2033|0.1773|0.2515|0.3564|gnomADg_AMI|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron|1/1||ENST00000609207.1:n.3158T>C||3158|||||rs4970380||-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.1579|0.0552|0.2291|0.1052|0.1879|0.2699||||||||||0.167|0.0776|0.3564|0.2138|0.1965|0.09703|0.1834|0.1867|0.2033|0.1773|0.2515|0.3564|gnomADg_AMI|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164799|enhancer||||||||||rs4970380||||SNV||||||||||||||||||||0.1579|0.0552|0.2291|0.1052|0.1879|0.2699||||||||||0.167|0.0776|0.3564|0.2138|0.1965|0.09703|0.1834|0.1867|0.2033|0.1773|0.2515|0.3564|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,2:0.5:6:0,1:2,1:2,2:2,2,1,1 -chr1 918443 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C0|2%2C2;DP=7;ECNT=1;GERMQ=36;MBQ=31,33;MFRL=0,0;MMQ=60,60;MPOS=96;POPAF=7.3;TLOD=13.13;SRC=custom;GRP=custom;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs1640632278|3472|1||SNV|||YES|||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||2/3|ENST00000417705.1:n.450-333G>T|||||||rs1640632278||-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron|1/2||ENST00000432961.1:n.92G>T||92|||||rs1640632278||-1||SNV|HGNC|HGNC:53933||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs1640632278|3495|1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||||||||||rs1640632278|2467|1||SNV|||YES|||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron|1/1||ENST00000609207.1:n.2574G>T||2574|||||rs1640632278||-1||SNV|HGNC|HGNC:53933|||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,4:0.571:6:0,0:2,2:2,3:2,0,2,2 -chr1 918443 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|4%2C4;DP=12;ECNT=1;GERMQ=41;MBQ=34,30;MFRL=0,0;MMQ=60,60;MPOS=59;POPAF=7.3;TLOD=24.25;SRC=custom;GRP=custom;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs1640632278|3472|1||SNV|||YES|||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||2/3|ENST00000417705.1:n.450-333G>T|||||||rs1640632278||-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron|1/2||ENST00000432961.1:n.92G>T||92|||||rs1640632278||-1||SNV|HGNC|HGNC:53933||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs1640632278|3495|1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||||||||||rs1640632278|2467|1||SNV|||YES|||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron|1/1||ENST00000609207.1:n.2574G>T||2574|||||rs1640632278||-1||SNV|HGNC|HGNC:53933|||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,8:0.718:10:0,0:1,4:1,4:1,1,4,4 -chr1 918574 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C2|2%2C3;DP=8;ECNT=1;GERMQ=36;MBQ=35,32;MFRL=0,0;MMQ=60,60;MPOS=20;POPAF=7.3;TLOD=16.2;SRC=custom;GRP=custom;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs1806509|3603|1||SNV|||YES|||3||||||||||||||0.4956|0.3116|0.4553|0.5863|0.6034|0.5685||||||||||0.52|0.3459|0.4989|0.4889|0.6122|0.6214|0.5686|0.4873|0.6083|0.5388|0.5842|0.6214|gnomADg_EAS|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||2/3|ENST00000417705.1:n.449+251G>T|||||||rs1806509||-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.4956|0.3116|0.4553|0.5863|0.6034|0.5685||||||||||0.52|0.3459|0.4989|0.4889|0.6122|0.6214|0.5686|0.4873|0.6083|0.5388|0.5842|0.6214|gnomADg_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||||||||||rs1806509|40|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.4956|0.3116|0.4553|0.5863|0.6034|0.5685||||||||||0.52|0.3459|0.4989|0.4889|0.6122|0.6214|0.5686|0.4873|0.6083|0.5388|0.5842|0.6214|gnomADg_EAS|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs1806509|3626|1||SNV|||YES|||2||||||||||||||0.4956|0.3116|0.4553|0.5863|0.6034|0.5685||||||||||0.52|0.3459|0.4989|0.4889|0.6122|0.6214|0.5686|0.4873|0.6083|0.5388|0.5842|0.6214|gnomADg_EAS|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||||||||||rs1806509|2598|1||SNV|||YES|||4||||||||||||||0.4956|0.3116|0.4553|0.5863|0.6034|0.5685||||||||||0.52|0.3459|0.4989|0.4889|0.6122|0.6214|0.5686|0.4873|0.6083|0.5388|0.5842|0.6214|gnomADg_EAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron|1/1||ENST00000609207.1:n.2443G>T||2443|||||rs1806509||-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.4956|0.3116|0.4553|0.5863|0.6034|0.5685||||||||||0.52|0.3459|0.4989|0.4889|0.6122|0.6214|0.5686|0.4873|0.6083|0.5388|0.5842|0.6214|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,5:0.571:8:1,1:1,2:2,3:1,2,2,3 -chr1 918574 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C2|2%2C2;DP=9;ECNT=1;GERMQ=37;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=78;POPAF=7.3;TLOD=13.33;SRC=custom;GRP=custom;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs1806509|3603|1||SNV|||YES|||3||||||||||||||0.4956|0.3116|0.4553|0.5863|0.6034|0.5685||||||||||0.52|0.3459|0.4989|0.4889|0.6122|0.6214|0.5686|0.4873|0.6083|0.5388|0.5842|0.6214|gnomADg_EAS|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||2/3|ENST00000417705.1:n.449+251G>T|||||||rs1806509||-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.4956|0.3116|0.4553|0.5863|0.6034|0.5685||||||||||0.52|0.3459|0.4989|0.4889|0.6122|0.6214|0.5686|0.4873|0.6083|0.5388|0.5842|0.6214|gnomADg_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||||||||||rs1806509|40|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.4956|0.3116|0.4553|0.5863|0.6034|0.5685||||||||||0.52|0.3459|0.4989|0.4889|0.6122|0.6214|0.5686|0.4873|0.6083|0.5388|0.5842|0.6214|gnomADg_EAS|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs1806509|3626|1||SNV|||YES|||2||||||||||||||0.4956|0.3116|0.4553|0.5863|0.6034|0.5685||||||||||0.52|0.3459|0.4989|0.4889|0.6122|0.6214|0.5686|0.4873|0.6083|0.5388|0.5842|0.6214|gnomADg_EAS|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||||||||||rs1806509|2598|1||SNV|||YES|||4||||||||||||||0.4956|0.3116|0.4553|0.5863|0.6034|0.5685||||||||||0.52|0.3459|0.4989|0.4889|0.6122|0.6214|0.5686|0.4873|0.6083|0.5388|0.5842|0.6214|gnomADg_EAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron|1/1||ENST00000609207.1:n.2443G>T||2443|||||rs1806509||-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.4956|0.3116|0.4553|0.5863|0.6034|0.5685||||||||||0.52|0.3459|0.4989|0.4889|0.6122|0.6214|0.5686|0.4873|0.6083|0.5388|0.5842|0.6214|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:5,4:0.429:9:0,0:3,2:3,2:3,2,2,2 -chr1 918792 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=3%2C4|1%2C1;DP=9;ECNT=3;GERMQ=43;MBQ=34,29;MFRL=0,0;MMQ=60,60;MPOS=90;POPAF=7.3;TLOD=5.18;SRC=custom;GRP=custom;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA|||||||||||3821|1||SNV|||YES|||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||2/3|ENST00000417705.1:n.449+33G>A|||||||||-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron|||||||||||258|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA|||||||||||3844|1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA|||||||||||2816|1||SNV|||YES|||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron|1/1||ENST00000609207.1:n.2225G>A||2225|||||||-1||SNV|HGNC|HGNC:53933|||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,2:0.286:9:1,0:3,1:4,1:3,4,1,1 -chr1 918870 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C2|2%2C2;DP=8;ECNT=2;GERMQ=36;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=80;POPAF=7.3;TLOD=13.53;SRC=custom;GRP=custom;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs7537756|3899|1||SNV|||YES|||3||||||||||||||0.2157|0.2511|0.2536|0.1131|0.1928|0.2699||||||||||0.2201|0.2572|0.3553|0.2377|0.2005|0.1029|0.1828|0.1994|0.2052|0.2208|0.2522|0.3553|gnomADg_AMI|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA|2/4||ENST00000417705.1:n.404T>C||404|||||rs7537756||-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.2157|0.2511|0.2536|0.1131|0.1928|0.2699||||||||||0.2201|0.2572|0.3553|0.2377|0.2005|0.1029|0.1828|0.1994|0.2052|0.2208|0.2522|0.3553|gnomADg_AMI|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||||||||||rs7537756|336|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.2157|0.2511|0.2536|0.1131|0.1928|0.2699||||||||||0.2201|0.2572|0.3553|0.2377|0.2005|0.1029|0.1828|0.1994|0.2052|0.2208|0.2522|0.3553|gnomADg_AMI|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs7537756|3922|1||SNV|||YES|||2||||||||||||||0.2157|0.2511|0.2536|0.1131|0.1928|0.2699||||||||||0.2201|0.2572|0.3553|0.2377|0.2005|0.1029|0.1828|0.1994|0.2052|0.2208|0.2522|0.3553|gnomADg_AMI|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||||||||||rs7537756|2894|1||SNV|||YES|||4||||||||||||||0.2157|0.2511|0.2536|0.1131|0.1928|0.2699||||||||||0.2201|0.2572|0.3553|0.2377|0.2005|0.1029|0.1828|0.1994|0.2052|0.2208|0.2522|0.3553|gnomADg_AMI|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron|1/1||ENST00000609207.1:n.2147T>C||2147|||||rs7537756||-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.2157|0.2511|0.2536|0.1131|0.1928|0.2699||||||||||0.2201|0.2572|0.3553|0.2377|0.2005|0.1029|0.1828|0.1994|0.2052|0.2208|0.2522|0.3553|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:4,4:0.429:8:0,0:2,2:3,2:0|1:918870_A_G:918870:2,2,2,2 -chr1 918870 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=2%2C1|2%2C2;DP=7;ECNT=3;GERMQ=36;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=109;POPAF=7.3;TLOD=13.33;SRC=custom;GRP=custom;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs7537756|3899|1||SNV|||YES|||3||||||||||||||0.2157|0.2511|0.2536|0.1131|0.1928|0.2699||||||||||0.2201|0.2572|0.3553|0.2377|0.2005|0.1029|0.1828|0.1994|0.2052|0.2208|0.2522|0.3553|gnomADg_AMI|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA|2/4||ENST00000417705.1:n.404T>C||404|||||rs7537756||-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.2157|0.2511|0.2536|0.1131|0.1928|0.2699||||||||||0.2201|0.2572|0.3553|0.2377|0.2005|0.1029|0.1828|0.1994|0.2052|0.2208|0.2522|0.3553|gnomADg_AMI|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||||||||||rs7537756|336|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.2157|0.2511|0.2536|0.1131|0.1928|0.2699||||||||||0.2201|0.2572|0.3553|0.2377|0.2005|0.1029|0.1828|0.1994|0.2052|0.2208|0.2522|0.3553|gnomADg_AMI|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs7537756|3922|1||SNV|||YES|||2||||||||||||||0.2157|0.2511|0.2536|0.1131|0.1928|0.2699||||||||||0.2201|0.2572|0.3553|0.2377|0.2005|0.1029|0.1828|0.1994|0.2052|0.2208|0.2522|0.3553|gnomADg_AMI|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||||||||||rs7537756|2894|1||SNV|||YES|||4||||||||||||||0.2157|0.2511|0.2536|0.1131|0.1928|0.2699||||||||||0.2201|0.2572|0.3553|0.2377|0.2005|0.1029|0.1828|0.1994|0.2052|0.2208|0.2522|0.3553|gnomADg_AMI|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron|1/1||ENST00000609207.1:n.2147T>C||2147|||||rs7537756||-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.2157|0.2511|0.2536|0.1131|0.1928|0.2699||||||||||0.2201|0.2572|0.3553|0.2377|0.2005|0.1029|0.1828|0.1994|0.2052|0.2208|0.2522|0.3553|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,4:0.571:7:0,0:2,2:2,3:2,1,2,2 -chr1 918888 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C2|1%2C1;DP=9;ECNT=2;GERMQ=40;MBQ=32,32;MFRL=0,0;MMQ=60,60;MPOS=81;POPAF=7.3;TLOD=5.92;SRC=custom;GRP=custom;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA|||||||||||3917|1||SNV|||YES|||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA|2/4||ENST00000417705.1:n.386A>G||386|||||||-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron|||||||||||354|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA|||||||||||3940|1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA|||||||||||2912|1||SNV|||YES|||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron|1/1||ENST00000609207.1:n.2129A>G||2129|||||||-1||SNV|HGNC|HGNC:53933|||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 1|0:5,2:0.329:7:0,0:3,1:3,1:1|0:918870_A_G:918870:3,2,1,1 -chr1 918934 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=6%2C4|1%2C1;DP=12;ECNT=3;GERMQ=48;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=47;POPAF=7.3;TLOD=5.81;SRC=custom;GRP=custom;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA|||||||||||3963|1||SNV|||YES|||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||1/3|ENST00000417705.1:n.359-19C>T|||||||||-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron|||||||||||400|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA|||||||||||3986|1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA|||||||||||2958|1||SNV|||YES|||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron|1/1||ENST00000609207.1:n.2083C>T||2083|||||||-1||SNV|HGNC|HGNC:53933||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding|||||||||||4989|1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||||||||||||||||||||||||||||||||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding|||||||||||4989|1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||||||||||||||||||||||||||||||||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:10,2:0.222:12:0,0:6,1:6,1:6,4,1,1 -chr1 919297 . A T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C4|1%2C1;DP=9;ECNT=1;GERMQ=43;MBQ=32,31;MFRL=0,0;MMQ=60,60;MPOS=113;POPAF=7.3;TLOD=5.87;SRC=custom;GRP=custom;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA|||||||||||4326|1||SNV|||YES|||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||1/3|ENST00000417705.1:n.358+38T>A|||||||||-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron|||||||||||763|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA|||||||||||4349|1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA|||||||||||3321|1||SNV|||YES|||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron|1/1||ENST00000609207.1:n.1720T>A||1720|||||||-1||SNV|HGNC|HGNC:53933||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding|||||||||||4626|1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||||||||||||||||||||||||||||||||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding|||||||||||4626|1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||||||||||||||||||||||||||||||||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918366|CTCF_binding_site||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,2:0.286:9:0,0:3,1:4,1:3,4,1,1 -chr1 919397 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|6%2C6;DP=14;ECNT=1;GERMQ=48;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=75;POPAF=7.3;TLOD=43.57;SRC=custom;GRP=custom;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs13303019|4426|1||SNV|||YES|||3||||||||||||||0.6619|0.7194|0.6009|0.7361|0.6113|0.6033||||||||||0.64|0.7011|0.5|0.6222|0.6262|0.7557|0.5716|0.5348|0.6132|0.6401|0.6176|0.7557|gnomADg_EAS|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA|1/4||ENST00000417705.1:n.296T>C||296|||||rs13303019||-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.6619|0.7194|0.6009|0.7361|0.6113|0.6033||||||||||0.64|0.7011|0.5|0.6222|0.6262|0.7557|0.5716|0.5348|0.6132|0.6401|0.6176|0.7557|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||||||||||rs13303019|863|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.6619|0.7194|0.6009|0.7361|0.6113|0.6033||||||||||0.64|0.7011|0.5|0.6222|0.6262|0.7557|0.5716|0.5348|0.6132|0.6401|0.6176|0.7557|gnomADg_EAS|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs13303019|4449|1||SNV|||YES|||2||||||||||||||0.6619|0.7194|0.6009|0.7361|0.6113|0.6033||||||||||0.64|0.7011|0.5|0.6222|0.6262|0.7557|0.5716|0.5348|0.6132|0.6401|0.6176|0.7557|gnomADg_EAS|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||||||||||rs13303019|3421|1||SNV|||YES|||4||||||||||||||0.6619|0.7194|0.6009|0.7361|0.6113|0.6033||||||||||0.64|0.7011|0.5|0.6222|0.6262|0.7557|0.5716|0.5348|0.6132|0.6401|0.6176|0.7557|gnomADg_EAS|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron|1/1||ENST00000609207.1:n.1620T>C||1620|||||rs13303019||-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.6619|0.7194|0.6009|0.7361|0.6113|0.6033||||||||||0.64|0.7011|0.5|0.6222|0.6262|0.7557|0.5716|0.5348|0.6132|0.6401|0.6176|0.7557|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||||||||||rs13303019|4526|1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.6619|0.7194|0.6009|0.7361|0.6113|0.6033||||||||||0.64|0.7011|0.5|0.6222|0.6262|0.7557|0.5716|0.5348|0.6132|0.6401|0.6176|0.7557|gnomADg_EAS|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||||||||||rs13303019|4526|1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.6619|0.7194|0.6009|0.7361|0.6113|0.6033||||||||||0.64|0.7011|0.5|0.6222|0.6262|0.7557|0.5716|0.5348|0.6132|0.6401|0.6176|0.7557|gnomADg_EAS|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918366|CTCF_binding_site||||||||||rs13303019||||SNV||||||||||||||||||||0.6619|0.7194|0.6009|0.7361|0.6113|0.6033||||||||||0.64|0.7011|0.5|0.6222|0.6262|0.7557|0.5716|0.5348|0.6132|0.6401|0.6176|0.7557|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,12:0.778:14:0,0:1,6:1,6:1,1,6,6 -chr1 919397 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C2|1%2C2;DP=8;ECNT=1;GERMQ=38;MBQ=33,35;MFRL=0,0;MMQ=60,60;MPOS=15;POPAF=7.3;TLOD=9.65;SRC=custom;GRP=custom;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs13303019|4426|1||SNV|||YES|||3||||||||||||||0.6619|0.7194|0.6009|0.7361|0.6113|0.6033||||||||||0.64|0.7011|0.5|0.6222|0.6262|0.7557|0.5716|0.5348|0.6132|0.6401|0.6176|0.7557|gnomADg_EAS|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA|1/4||ENST00000417705.1:n.296T>C||296|||||rs13303019||-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.6619|0.7194|0.6009|0.7361|0.6113|0.6033||||||||||0.64|0.7011|0.5|0.6222|0.6262|0.7557|0.5716|0.5348|0.6132|0.6401|0.6176|0.7557|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||||||||||rs13303019|863|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.6619|0.7194|0.6009|0.7361|0.6113|0.6033||||||||||0.64|0.7011|0.5|0.6222|0.6262|0.7557|0.5716|0.5348|0.6132|0.6401|0.6176|0.7557|gnomADg_EAS|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs13303019|4449|1||SNV|||YES|||2||||||||||||||0.6619|0.7194|0.6009|0.7361|0.6113|0.6033||||||||||0.64|0.7011|0.5|0.6222|0.6262|0.7557|0.5716|0.5348|0.6132|0.6401|0.6176|0.7557|gnomADg_EAS|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||||||||||rs13303019|3421|1||SNV|||YES|||4||||||||||||||0.6619|0.7194|0.6009|0.7361|0.6113|0.6033||||||||||0.64|0.7011|0.5|0.6222|0.6262|0.7557|0.5716|0.5348|0.6132|0.6401|0.6176|0.7557|gnomADg_EAS|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron|1/1||ENST00000609207.1:n.1620T>C||1620|||||rs13303019||-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.6619|0.7194|0.6009|0.7361|0.6113|0.6033||||||||||0.64|0.7011|0.5|0.6222|0.6262|0.7557|0.5716|0.5348|0.6132|0.6401|0.6176|0.7557|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||||||||||rs13303019|4526|1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.6619|0.7194|0.6009|0.7361|0.6113|0.6033||||||||||0.64|0.7011|0.5|0.6222|0.6262|0.7557|0.5716|0.5348|0.6132|0.6401|0.6176|0.7557|gnomADg_EAS|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||||||||||rs13303019|4526|1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.6619|0.7194|0.6009|0.7361|0.6113|0.6033||||||||||0.64|0.7011|0.5|0.6222|0.6262|0.7557|0.5716|0.5348|0.6132|0.6401|0.6176|0.7557|gnomADg_EAS|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918366|CTCF_binding_site||||||||||rs13303019||||SNV||||||||||||||||||||0.6619|0.7194|0.6009|0.7361|0.6113|0.6033||||||||||0.64|0.7011|0.5|0.6222|0.6262|0.7557|0.5716|0.5348|0.6132|0.6401|0.6176|0.7557|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:5,3:0.429:8:0,1:3,1:3,2:3,2,1,2 -chr1 919598 . A C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5%2C6|4%2C4;DP=19;ECNT=1;GERMQ=36;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=52;POPAF=7.3;TLOD=26.45;SRC=custom;GRP=custom;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs13303057|4627|1||SNV|||YES|||3||||||||||||||0.4946|0.3132|0.4524|0.5863|0.5994|0.5675||||||||||0.5198|0.3527|0.4989|0.4846|0.6052|0.6212|0.5772|0.4842|0.604|0.5368|0.5827|0.6212|gnomADg_EAS|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA|1/4||ENST00000417705.1:n.95T>G||95|||||rs13303057||-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.4946|0.3132|0.4524|0.5863|0.5994|0.5675||||||||||0.5198|0.3527|0.4989|0.4846|0.6052|0.6212|0.5772|0.4842|0.604|0.5368|0.5827|0.6212|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||||||||||rs13303057|1064|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.4946|0.3132|0.4524|0.5863|0.5994|0.5675||||||||||0.5198|0.3527|0.4989|0.4846|0.6052|0.6212|0.5772|0.4842|0.604|0.5368|0.5827|0.6212|gnomADg_EAS|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs13303057|4650|1||SNV|||YES|||2||||||||||||||0.4946|0.3132|0.4524|0.5863|0.5994|0.5675||||||||||0.5198|0.3527|0.4989|0.4846|0.6052|0.6212|0.5772|0.4842|0.604|0.5368|0.5827|0.6212|gnomADg_EAS|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||||||||||rs13303057|3622|1||SNV|||YES|||4||||||||||||||0.4946|0.3132|0.4524|0.5863|0.5994|0.5675||||||||||0.5198|0.3527|0.4989|0.4846|0.6052|0.6212|0.5772|0.4842|0.604|0.5368|0.5827|0.6212|gnomADg_EAS|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron|1/1||ENST00000609207.1:n.1419T>G||1419|||||rs13303057||-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.4946|0.3132|0.4524|0.5863|0.5994|0.5675||||||||||0.5198|0.3527|0.4989|0.4846|0.6052|0.6212|0.5772|0.4842|0.604|0.5368|0.5827|0.6212|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||||||||||rs13303057|4325|1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.4946|0.3132|0.4524|0.5863|0.5994|0.5675||||||||||0.5198|0.3527|0.4989|0.4846|0.6052|0.6212|0.5772|0.4842|0.604|0.5368|0.5827|0.6212|gnomADg_EAS|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||||||||||rs13303057|4325|1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.4946|0.3132|0.4524|0.5863|0.5994|0.5675||||||||||0.5198|0.3527|0.4989|0.4846|0.6052|0.6212|0.5772|0.4842|0.604|0.5368|0.5827|0.6212|gnomADg_EAS|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918366|CTCF_binding_site||||||||||rs13303057||||SNV||||||||||||||||||||0.4946|0.3132|0.4524|0.5863|0.5994|0.5675||||||||||0.5198|0.3527|0.4989|0.4846|0.6052|0.6212|0.5772|0.4842|0.604|0.5368|0.5827|0.6212|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:11,8:0.417:19:1,0:5,4:6,4:5,6,4,4 -chr1 919598 . A C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C3|2%2C2;DP=10;ECNT=1;GERMQ=37;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=89;POPAF=7.3;TLOD=13.33;SRC=custom;GRP=custom;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs13303057|4627|1||SNV|||YES|||3||||||||||||||0.4946|0.3132|0.4524|0.5863|0.5994|0.5675||||||||||0.5198|0.3527|0.4989|0.4846|0.6052|0.6212|0.5772|0.4842|0.604|0.5368|0.5827|0.6212|gnomADg_EAS|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA|1/4||ENST00000417705.1:n.95T>G||95|||||rs13303057||-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.4946|0.3132|0.4524|0.5863|0.5994|0.5675||||||||||0.5198|0.3527|0.4989|0.4846|0.6052|0.6212|0.5772|0.4842|0.604|0.5368|0.5827|0.6212|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||||||||||rs13303057|1064|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.4946|0.3132|0.4524|0.5863|0.5994|0.5675||||||||||0.5198|0.3527|0.4989|0.4846|0.6052|0.6212|0.5772|0.4842|0.604|0.5368|0.5827|0.6212|gnomADg_EAS|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs13303057|4650|1||SNV|||YES|||2||||||||||||||0.4946|0.3132|0.4524|0.5863|0.5994|0.5675||||||||||0.5198|0.3527|0.4989|0.4846|0.6052|0.6212|0.5772|0.4842|0.604|0.5368|0.5827|0.6212|gnomADg_EAS|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||||||||||rs13303057|3622|1||SNV|||YES|||4||||||||||||||0.4946|0.3132|0.4524|0.5863|0.5994|0.5675||||||||||0.5198|0.3527|0.4989|0.4846|0.6052|0.6212|0.5772|0.4842|0.604|0.5368|0.5827|0.6212|gnomADg_EAS|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron|1/1||ENST00000609207.1:n.1419T>G||1419|||||rs13303057||-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.4946|0.3132|0.4524|0.5863|0.5994|0.5675||||||||||0.5198|0.3527|0.4989|0.4846|0.6052|0.6212|0.5772|0.4842|0.604|0.5368|0.5827|0.6212|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||||||||||rs13303057|4325|1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.4946|0.3132|0.4524|0.5863|0.5994|0.5675||||||||||0.5198|0.3527|0.4989|0.4846|0.6052|0.6212|0.5772|0.4842|0.604|0.5368|0.5827|0.6212|gnomADg_EAS|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||||||||||rs13303057|4325|1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.4946|0.3132|0.4524|0.5863|0.5994|0.5675||||||||||0.5198|0.3527|0.4989|0.4846|0.6052|0.6212|0.5772|0.4842|0.604|0.5368|0.5827|0.6212|gnomADg_EAS|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918366|CTCF_binding_site||||||||||rs13303057||||SNV||||||||||||||||||||0.4946|0.3132|0.4524|0.5863|0.5994|0.5675||||||||||0.5198|0.3527|0.4989|0.4846|0.6052|0.6212|0.5772|0.4842|0.604|0.5368|0.5827|0.6212|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,4:0.429:10:0,0:3,2:3,2:3,3,2,2 -chr1 919695 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C3|1%2C2;DP=8;ECNT=1;GERMQ=37;MBQ=35,34;MFRL=0,0;MMQ=60,60;MPOS=84;POPAF=7.3;TLOD=9.51;SRC=custom;GRP=custom;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs6673914|4724|1||SNV|||YES|||3||||||||||||||0.6562|0.7012|0.6023|0.7272|0.6113|0.6063||||||||||0.6341|0.6816|0.4989|0.6205|0.626|0.748|0.5711|0.5316|0.6132|0.6373|0.6184|0.748|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs6673914|3|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.6562|0.7012|0.6023|0.7272|0.6113|0.6063||||||||||0.6341|0.6816|0.4989|0.6205|0.626|0.748|0.5711|0.5316|0.6132|0.6373|0.6184|0.748|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||||||||||rs6673914|1161|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.6562|0.7012|0.6023|0.7272|0.6113|0.6063||||||||||0.6341|0.6816|0.4989|0.6205|0.626|0.748|0.5711|0.5316|0.6132|0.6373|0.6184|0.748|gnomADg_EAS|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs6673914|4747|1||SNV|||YES|||2||||||||||||||0.6562|0.7012|0.6023|0.7272|0.6113|0.6063||||||||||0.6341|0.6816|0.4989|0.6205|0.626|0.748|0.5711|0.5316|0.6132|0.6373|0.6184|0.748|gnomADg_EAS|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||||||||||rs6673914|3719|1||SNV|||YES|||4||||||||||||||0.6562|0.7012|0.6023|0.7272|0.6113|0.6063||||||||||0.6341|0.6816|0.4989|0.6205|0.626|0.748|0.5711|0.5316|0.6132|0.6373|0.6184|0.748|gnomADg_EAS|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron|1/1||ENST00000609207.1:n.1322G>C||1322|||||rs6673914||-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.6562|0.7012|0.6023|0.7272|0.6113|0.6063||||||||||0.6341|0.6816|0.4989|0.6205|0.626|0.748|0.5711|0.5316|0.6132|0.6373|0.6184|0.748|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||||||||||rs6673914|4228|1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.6562|0.7012|0.6023|0.7272|0.6113|0.6063||||||||||0.6341|0.6816|0.4989|0.6205|0.626|0.748|0.5711|0.5316|0.6132|0.6373|0.6184|0.748|gnomADg_EAS|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||||||||||rs6673914|4228|1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.6562|0.7012|0.6023|0.7272|0.6113|0.6063||||||||||0.6341|0.6816|0.4989|0.6205|0.626|0.748|0.5711|0.5316|0.6132|0.6373|0.6184|0.748|gnomADg_EAS|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918366|CTCF_binding_site||||||||||rs6673914||||SNV||||||||||||||||||||0.6562|0.7012|0.6023|0.7272|0.6113|0.6063||||||||||0.6341|0.6816|0.4989|0.6205|0.626|0.748|0.5711|0.5316|0.6132|0.6373|0.6184|0.748|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,3:0.429:7:1,1:1,1:3,2:1,3,1,2 -chr1 919695 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C0|1%2C2;DP=5;ECNT=2;GERMQ=37;MBQ=30,34;MFRL=0,0;MMQ=60,60;MPOS=115;POPAF=7.3;TLOD=9.75;SRC=custom;GRP=custom;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs6673914|4724|1||SNV|||YES|||3||||||||||||||0.6562|0.7012|0.6023|0.7272|0.6113|0.6063||||||||||0.6341|0.6816|0.4989|0.6205|0.626|0.748|0.5711|0.5316|0.6132|0.6373|0.6184|0.748|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs6673914|3|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.6562|0.7012|0.6023|0.7272|0.6113|0.6063||||||||||0.6341|0.6816|0.4989|0.6205|0.626|0.748|0.5711|0.5316|0.6132|0.6373|0.6184|0.748|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||||||||||rs6673914|1161|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.6562|0.7012|0.6023|0.7272|0.6113|0.6063||||||||||0.6341|0.6816|0.4989|0.6205|0.626|0.748|0.5711|0.5316|0.6132|0.6373|0.6184|0.748|gnomADg_EAS|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs6673914|4747|1||SNV|||YES|||2||||||||||||||0.6562|0.7012|0.6023|0.7272|0.6113|0.6063||||||||||0.6341|0.6816|0.4989|0.6205|0.626|0.748|0.5711|0.5316|0.6132|0.6373|0.6184|0.748|gnomADg_EAS|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||||||||||rs6673914|3719|1||SNV|||YES|||4||||||||||||||0.6562|0.7012|0.6023|0.7272|0.6113|0.6063||||||||||0.6341|0.6816|0.4989|0.6205|0.626|0.748|0.5711|0.5316|0.6132|0.6373|0.6184|0.748|gnomADg_EAS|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron|1/1||ENST00000609207.1:n.1322G>C||1322|||||rs6673914||-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.6562|0.7012|0.6023|0.7272|0.6113|0.6063||||||||||0.6341|0.6816|0.4989|0.6205|0.626|0.748|0.5711|0.5316|0.6132|0.6373|0.6184|0.748|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||||||||||rs6673914|4228|1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.6562|0.7012|0.6023|0.7272|0.6113|0.6063||||||||||0.6341|0.6816|0.4989|0.6205|0.626|0.748|0.5711|0.5316|0.6132|0.6373|0.6184|0.748|gnomADg_EAS|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||||||||||rs6673914|4228|1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.6562|0.7012|0.6023|0.7272|0.6113|0.6063||||||||||0.6341|0.6816|0.4989|0.6205|0.626|0.748|0.5711|0.5316|0.6132|0.6373|0.6184|0.748|gnomADg_EAS|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918366|CTCF_binding_site||||||||||rs6673914||||SNV||||||||||||||||||||0.6562|0.7012|0.6023|0.7272|0.6113|0.6063||||||||||0.6341|0.6816|0.4989|0.6205|0.626|0.748|0.5711|0.5316|0.6132|0.6373|0.6184|0.748|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,3:0.5:5:0,1:2,1:2,2:2,0,1,2 -chr1 919708 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C2|1%2C1;DP=8;ECNT=2;GERMQ=40;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=140;POPAF=7.3;TLOD=6.15;SRC=custom;GRP=custom;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA|||||||||||4737|1||SNV|||YES|||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA|||||||||||16|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron|||||||||||1174|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA|||||||||||4760|1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA|||||||||||3732|1||SNV|||YES|||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron|1/1||ENST00000609207.1:n.1309T>C||1309|||||||-1||SNV|HGNC|HGNC:53933||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding|||||||||||4215|1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||||||||||||||||||||||||||||||||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding|||||||||||4215|1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||||||||||||||||||||||||||||||||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918366|CTCF_binding_site||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:5,2:0.282:7:1,0:3,1:4,1:3,2,1,1 -chr1 920274 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=10%2C9|1%2C1;DP=21;ECNT=1;GERMQ=68;MBQ=32,31;MFRL=0,0;MMQ=60,60;MPOS=70;POPAF=7.3;TLOD=4.89;SRC=custom;GRP=custom;CSQ=T|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs1049680375|582|-1||SNV|HGNC|HGNC:53933|YES|||3|||||||||||||||||||||||||||||1.971e-05|2.411e-05|0|6.543e-05|0|0.0001925|0|0|0|0|0|0.0001925|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||||||||||rs1049680375|1740|-1||SNV|HGNC|HGNC:53933||||2|||||||||||||||||||||||||||||1.971e-05|2.411e-05|0|6.543e-05|0|0.0001925|0|0|0|0|0|0.0001925|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||||||||||rs1049680375|4876|1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1|||||||||||||||||||||1.971e-05|2.411e-05|0|6.543e-05|0|0.0001925|0|0|0|0|0|0.0001925|gnomADg_EAS|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,T|downstream_gene_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||||||||||rs1049680375|4298|1||SNV|||YES|||4|||||||||||||||||||||||||||||1.971e-05|2.411e-05|0|6.543e-05|0|0.0001925|0|0|0|0|0|0.0001925|gnomADg_EAS|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron|1/1||ENST00000609207.1:n.743G>A||743|||||rs1049680375||-1||SNV|HGNC|HGNC:53933|||||||||||||||||||||||||||||||||1.971e-05|2.411e-05|0|6.543e-05|0|0.0001925|0|0|0|0|0|0.0001925|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||||||||||rs1049680375|3649|1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1|||||||||||||||||||||1.971e-05|2.411e-05|0|6.543e-05|0|0.0001925|0|0|0|0|0|0.0001925|gnomADg_EAS|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||||||||||rs1049680375|3649|1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1|||||||||||||||||||||1.971e-05|2.411e-05|0|6.543e-05|0|0.0001925|0|0|0|0|0|0.0001925|gnomADg_EAS|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:19,2:0.133:21:2,0:10,1:12,1:10,9,1,1 -chr1 920331 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=11%2C8|1%2C1;DP=22;ECNT=1;GERMQ=69;MBQ=35,30;MFRL=0,0;MMQ=60,60;MPOS=59;POPAF=7.3;TLOD=4.75;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA|||||||||||639|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron|||||||||||1797|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding|||||||||||4819|1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,G|downstream_gene_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA|||||||||||4355|1||SNV|||YES|||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron|1/1||ENST00000609207.1:n.686G>C||686|||||||-1||SNV|HGNC|HGNC:53933||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding|||||||||||3592|1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||||||||||||||||||||||||||||||||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding|||||||||||3592|1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||||||||||||||||||||||||||||||||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:19,2:0.141:21:0,0:11,1:11,1:11,8,1,1 -chr1 920719 . T G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5%2C6|3%2C4;DP=18;ECNT=2;GERMQ=37;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=55;POPAF=7.3;TLOD=28.14;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs28534711|1027|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.3508|0.3222|0.4006|0.2718|0.3887|0.3967||||||||||0.3706|0.3355|0.4989|0.3813|0.3743|0.252|0.4278|0.4905|0.3864|0.3677|0.3838|0.4989|gnomADg_AMI|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||||||||||rs28534711|2185|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.3508|0.3222|0.4006|0.2718|0.3887|0.3967||||||||||0.3706|0.3355|0.4989|0.3813|0.3743|0.252|0.4278|0.4905|0.3864|0.3677|0.3838|0.4989|gnomADg_AMI|||||||||||||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||||||||||rs28534711|4431|1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.3508|0.3222|0.4006|0.2718|0.3887|0.3967||||||||||0.3706|0.3355|0.4989|0.3813|0.3743|0.252|0.4278|0.4905|0.3864|0.3677|0.3838|0.4989|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,G|downstream_gene_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||||||||||rs28534711|4743|1||SNV|||YES|||4||||||||||||||0.3508|0.3222|0.4006|0.2718|0.3887|0.3967||||||||||0.3706|0.3355|0.4989|0.3813|0.3743|0.252|0.4278|0.4905|0.3864|0.3677|0.3838|0.4989|gnomADg_AMI|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron|1/1||ENST00000609207.1:n.298A>C||298|||||rs28534711||-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.3508|0.3222|0.4006|0.2718|0.3887|0.3967||||||||||0.3706|0.3355|0.4989|0.3813|0.3743|0.252|0.4278|0.4905|0.3864|0.3677|0.3838|0.4989|gnomADg_AMI|||||||||||||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||||||||||rs28534711|3204|1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.3508|0.3222|0.4006|0.2718|0.3887|0.3967||||||||||0.3706|0.3355|0.4989|0.3813|0.3743|0.252|0.4278|0.4905|0.3864|0.3677|0.3838|0.4989|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||||||||||rs28534711|3204|1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.3508|0.3222|0.4006|0.2718|0.3887|0.3967||||||||||0.3706|0.3355|0.4989|0.3813|0.3743|0.252|0.4278|0.4905|0.3864|0.3677|0.3838|0.4989|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:11,7:0.417:18:1,1:5,3:6,4:0|1:920719_T_G:920719:5,6,3,4 -chr1 920719 . T G . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=6%2C7|5%2C4;DP=22;ECNT=3;GERMQ=36;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=69;POPAF=7.3;TLOD=36.49;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs28534711|1027|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.3508|0.3222|0.4006|0.2718|0.3887|0.3967||||||||||0.3706|0.3355|0.4989|0.3813|0.3743|0.252|0.4278|0.4905|0.3864|0.3677|0.3838|0.4989|gnomADg_AMI|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||||||||||rs28534711|2185|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.3508|0.3222|0.4006|0.2718|0.3887|0.3967||||||||||0.3706|0.3355|0.4989|0.3813|0.3743|0.252|0.4278|0.4905|0.3864|0.3677|0.3838|0.4989|gnomADg_AMI|||||||||||||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||||||||||rs28534711|4431|1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.3508|0.3222|0.4006|0.2718|0.3887|0.3967||||||||||0.3706|0.3355|0.4989|0.3813|0.3743|0.252|0.4278|0.4905|0.3864|0.3677|0.3838|0.4989|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,G|downstream_gene_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||||||||||rs28534711|4743|1||SNV|||YES|||4||||||||||||||0.3508|0.3222|0.4006|0.2718|0.3887|0.3967||||||||||0.3706|0.3355|0.4989|0.3813|0.3743|0.252|0.4278|0.4905|0.3864|0.3677|0.3838|0.4989|gnomADg_AMI|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron|1/1||ENST00000609207.1:n.298A>C||298|||||rs28534711||-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.3508|0.3222|0.4006|0.2718|0.3887|0.3967||||||||||0.3706|0.3355|0.4989|0.3813|0.3743|0.252|0.4278|0.4905|0.3864|0.3677|0.3838|0.4989|gnomADg_AMI|||||||||||||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||||||||||rs28534711|3204|1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.3508|0.3222|0.4006|0.2718|0.3887|0.3967||||||||||0.3706|0.3355|0.4989|0.3813|0.3743|0.252|0.4278|0.4905|0.3864|0.3677|0.3838|0.4989|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||||||||||rs28534711|3204|1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.3508|0.3222|0.4006|0.2718|0.3887|0.3967||||||||||0.3706|0.3355|0.4989|0.3813|0.3743|0.252|0.4278|0.4905|0.3864|0.3677|0.3838|0.4989|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:13,9:0.429:22:1,0:6,5:7,5:0|1:920719_T_G:920719:6,7,5,4 -chr1 920728 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5%2C6|3%2C4;DP=18;ECNT=2;GERMQ=37;MBQ=32,32;MFRL=0,0;MMQ=60,60;MPOS=61;POPAF=7.3;TLOD=28.14;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs28742275|1036|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.3508|0.3222|0.4006|0.2718|0.3887|0.3967||||||||||0.3707|0.3358|0.5|0.3818|0.3735|0.252|0.428|0.4905|0.3864|0.3677|0.3835|0.5|gnomADg_AMI|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||||||||||rs28742275|2194|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.3508|0.3222|0.4006|0.2718|0.3887|0.3967||||||||||0.3707|0.3358|0.5|0.3818|0.3735|0.252|0.428|0.4905|0.3864|0.3677|0.3835|0.5|gnomADg_AMI|||||||||||||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||||||||||rs28742275|4422|1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.3508|0.3222|0.4006|0.2718|0.3887|0.3967||||||||||0.3707|0.3358|0.5|0.3818|0.3735|0.252|0.428|0.4905|0.3864|0.3677|0.3835|0.5|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,G|downstream_gene_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||||||||||rs28742275|4752|1||SNV|||YES|||4||||||||||||||0.3508|0.3222|0.4006|0.2718|0.3887|0.3967||||||||||0.3707|0.3358|0.5|0.3818|0.3735|0.252|0.428|0.4905|0.3864|0.3677|0.3835|0.5|gnomADg_AMI|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron|1/1||ENST00000609207.1:n.289T>C||289|||||rs28742275||-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.3508|0.3222|0.4006|0.2718|0.3887|0.3967||||||||||0.3707|0.3358|0.5|0.3818|0.3735|0.252|0.428|0.4905|0.3864|0.3677|0.3835|0.5|gnomADg_AMI|||||||||||||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||||||||||rs28742275|3195|1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.3508|0.3222|0.4006|0.2718|0.3887|0.3967||||||||||0.3707|0.3358|0.5|0.3818|0.3735|0.252|0.428|0.4905|0.3864|0.3677|0.3835|0.5|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||||||||||rs28742275|3195|1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.3508|0.3222|0.4006|0.2718|0.3887|0.3967||||||||||0.3707|0.3358|0.5|0.3818|0.3735|0.252|0.428|0.4905|0.3864|0.3677|0.3835|0.5|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:11,7:0.417:18:1,1:5,3:6,4:0|1:920719_T_G:920719:5,6,3,4 -chr1 920728 . A G . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=6%2C7|5%2C4;DP=22;ECNT=3;GERMQ=36;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=75;POPAF=7.3;TLOD=36.49;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs28742275|1036|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.3508|0.3222|0.4006|0.2718|0.3887|0.3967||||||||||0.3707|0.3358|0.5|0.3818|0.3735|0.252|0.428|0.4905|0.3864|0.3677|0.3835|0.5|gnomADg_AMI|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||||||||||rs28742275|2194|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.3508|0.3222|0.4006|0.2718|0.3887|0.3967||||||||||0.3707|0.3358|0.5|0.3818|0.3735|0.252|0.428|0.4905|0.3864|0.3677|0.3835|0.5|gnomADg_AMI|||||||||||||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||||||||||rs28742275|4422|1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.3508|0.3222|0.4006|0.2718|0.3887|0.3967||||||||||0.3707|0.3358|0.5|0.3818|0.3735|0.252|0.428|0.4905|0.3864|0.3677|0.3835|0.5|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,G|downstream_gene_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||||||||||rs28742275|4752|1||SNV|||YES|||4||||||||||||||0.3508|0.3222|0.4006|0.2718|0.3887|0.3967||||||||||0.3707|0.3358|0.5|0.3818|0.3735|0.252|0.428|0.4905|0.3864|0.3677|0.3835|0.5|gnomADg_AMI|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron|1/1||ENST00000609207.1:n.289T>C||289|||||rs28742275||-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.3508|0.3222|0.4006|0.2718|0.3887|0.3967||||||||||0.3707|0.3358|0.5|0.3818|0.3735|0.252|0.428|0.4905|0.3864|0.3677|0.3835|0.5|gnomADg_AMI|||||||||||||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||||||||||rs28742275|3195|1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.3508|0.3222|0.4006|0.2718|0.3887|0.3967||||||||||0.3707|0.3358|0.5|0.3818|0.3735|0.252|0.428|0.4905|0.3864|0.3677|0.3835|0.5|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||||||||||rs28742275|3195|1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.3508|0.3222|0.4006|0.2718|0.3887|0.3967||||||||||0.3707|0.3358|0.5|0.3818|0.3735|0.252|0.428|0.4905|0.3864|0.3677|0.3835|0.5|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:13,9:0.429:22:1,0:6,5:7,5:0|1:920719_T_G:920719:6,7,5,4 -chr1 920791 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=5%2C6|1%2C1;DP=13;ECNT=3;GERMQ=50;MBQ=35,32;MFRL=0,0;MMQ=60,60;MPOS=43;POPAF=7.3;TLOD=5.5;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding|||||||||||4940|1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA|||||||||||1099|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron|||||||||||2257|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding|||||||||||4359|1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,A|downstream_gene_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA|||||||||||4815|1||SNV|||YES|||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron|1/1||ENST00000609207.1:n.226C>T||226|||||||-1||SNV|HGNC|HGNC:53933||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding|||||||||||3132|1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||||||||||||||||||||||||||||||||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding|||||||||||3132|1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||||||||||||||||||||||||||||||||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:11,2:0.2:13:0,0:5,1:7,1:5,6,1,1 -chr1 921096 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C2|2%2C1;DP=7;ECNT=2;GERMQ=37;MBQ=31,31;MFRL=0,0;MMQ=60,60;MPOS=58;POPAF=7.3;TLOD=7;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||||||||||rs4040605|4635|1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.5034|0.7322|0.5331|0.4147|0.3559|0.4162||||||||||0.4672|0.6794|0.4923|0.4987|0.3694|0.3747|0.4159|0.4873|0.3555|0.4516|0.404|0.7322|AFR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs4040605|1404|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.5034|0.7322|0.5331|0.4147|0.3559|0.4162||||||||||0.4672|0.6794|0.4923|0.4987|0.3694|0.3747|0.4159|0.4873|0.3555|0.4516|0.404|0.7322|AFR|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||||||||||rs4040605|2562|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.5034|0.7322|0.5331|0.4147|0.3559|0.4162||||||||||0.4672|0.6794|0.4923|0.4987|0.3694|0.3747|0.4159|0.4873|0.3555|0.4516|0.404|0.7322|AFR|||||||||||||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||||||||||rs4040605|4054|1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.5034|0.7322|0.5331|0.4147|0.3559|0.4162||||||||||0.4672|0.6794|0.4923|0.4987|0.3694|0.3747|0.4159|0.4873|0.3555|0.4516|0.404|0.7322|AFR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,G|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs4040605|80|-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.5034|0.7322|0.5331|0.4147|0.3559|0.4162||||||||||0.4672|0.6794|0.4923|0.4987|0.3694|0.3747|0.4159|0.4873|0.3555|0.4516|0.404|0.7322|AFR|||||||||||||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||||||||||rs4040605|2827|1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.5034|0.7322|0.5331|0.4147|0.3559|0.4162||||||||||0.4672|0.6794|0.4923|0.4987|0.3694|0.3747|0.4159|0.4873|0.3555|0.4516|0.404|0.7322|AFR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||||||||||rs4040605|4846|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.5034|0.7322|0.5331|0.4147|0.3559|0.4162||||||||||0.4672|0.6794|0.4923|0.4987|0.3694|0.3747|0.4159|0.4873|0.3555|0.4516|0.404|0.7322|AFR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||||||||||rs4040605|4846|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.5034|0.7322|0.5331|0.4147|0.3559|0.4162||||||||||0.4672|0.6794|0.4923|0.4987|0.3694|0.3747|0.4159|0.4873|0.3555|0.4516|0.404|0.7322|AFR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||||||||||rs4040605|4846|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.5034|0.7322|0.5331|0.4147|0.3559|0.4162||||||||||0.4672|0.6794|0.4923|0.4987|0.3694|0.3747|0.4159|0.4873|0.3555|0.4516|0.404|0.7322|AFR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||||||||||rs4040605|2827|1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.5034|0.7322|0.5331|0.4147|0.3559|0.4162||||||||||0.4672|0.6794|0.4923|0.4987|0.3694|0.3747|0.4159|0.4873|0.3555|0.4516|0.404|0.7322|AFR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||||||||||rs4040605|4846|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.5034|0.7322|0.5331|0.4147|0.3559|0.4162||||||||||0.4672|0.6794|0.4923|0.4987|0.3694|0.3747|0.4159|0.4873|0.3555|0.4516|0.404|0.7322|AFR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||||||||||rs4040605|4846|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.5034|0.7322|0.5331|0.4147|0.3559|0.4162||||||||||0.4672|0.6794|0.4923|0.4987|0.3694|0.3747|0.4159|0.4873|0.3555|0.4516|0.404|0.7322|AFR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000249804|promoter||||||||||rs4040605||||SNV||||||||||||||||||||0.5034|0.7322|0.5331|0.4147|0.3559|0.4162||||||||||0.4672|0.6794|0.4923|0.4987|0.3694|0.3747|0.4159|0.4873|0.3555|0.4516|0.404|0.7322|AFR|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344429|CTCF_binding_site||||||||||rs4040605||||SNV||||||||||||||||||||0.5034|0.7322|0.5331|0.4147|0.3559|0.4162||||||||||0.4672|0.6794|0.4923|0.4987|0.3694|0.3747|0.4159|0.4873|0.3555|0.4516|0.404|0.7322|AFR|||||||||||||,G|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00522326553|||||||||||rs4040605||1||SNV||||||||||||||||||||0.5034|0.7322|0.5331|0.4147|0.3559|0.4162||||||||||0.4672|0.6794|0.4923|0.4987|0.3694|0.3747|0.4159|0.4873|0.3555|0.4516|0.404|0.7322|AFR|||||ENSPFM0596|15|N|-0.002|TFAP2C::MAX|||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,3:0.5:7:0,0:2,2:2,2:2,2,2,1 -chr1 921096 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C3|3%2C3;DP=12;ECNT=2;GERMQ=35;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=26;POPAF=7.3;TLOD=19.91;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||||||||||rs4040605|4635|1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.5034|0.7322|0.5331|0.4147|0.3559|0.4162||||||||||0.4672|0.6794|0.4923|0.4987|0.3694|0.3747|0.4159|0.4873|0.3555|0.4516|0.404|0.7322|AFR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs4040605|1404|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.5034|0.7322|0.5331|0.4147|0.3559|0.4162||||||||||0.4672|0.6794|0.4923|0.4987|0.3694|0.3747|0.4159|0.4873|0.3555|0.4516|0.404|0.7322|AFR|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||||||||||rs4040605|2562|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.5034|0.7322|0.5331|0.4147|0.3559|0.4162||||||||||0.4672|0.6794|0.4923|0.4987|0.3694|0.3747|0.4159|0.4873|0.3555|0.4516|0.404|0.7322|AFR|||||||||||||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||||||||||rs4040605|4054|1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.5034|0.7322|0.5331|0.4147|0.3559|0.4162||||||||||0.4672|0.6794|0.4923|0.4987|0.3694|0.3747|0.4159|0.4873|0.3555|0.4516|0.404|0.7322|AFR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,G|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs4040605|80|-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.5034|0.7322|0.5331|0.4147|0.3559|0.4162||||||||||0.4672|0.6794|0.4923|0.4987|0.3694|0.3747|0.4159|0.4873|0.3555|0.4516|0.404|0.7322|AFR|||||||||||||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||||||||||rs4040605|2827|1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.5034|0.7322|0.5331|0.4147|0.3559|0.4162||||||||||0.4672|0.6794|0.4923|0.4987|0.3694|0.3747|0.4159|0.4873|0.3555|0.4516|0.404|0.7322|AFR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||||||||||rs4040605|4846|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.5034|0.7322|0.5331|0.4147|0.3559|0.4162||||||||||0.4672|0.6794|0.4923|0.4987|0.3694|0.3747|0.4159|0.4873|0.3555|0.4516|0.404|0.7322|AFR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||||||||||rs4040605|4846|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.5034|0.7322|0.5331|0.4147|0.3559|0.4162||||||||||0.4672|0.6794|0.4923|0.4987|0.3694|0.3747|0.4159|0.4873|0.3555|0.4516|0.404|0.7322|AFR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||||||||||rs4040605|4846|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.5034|0.7322|0.5331|0.4147|0.3559|0.4162||||||||||0.4672|0.6794|0.4923|0.4987|0.3694|0.3747|0.4159|0.4873|0.3555|0.4516|0.404|0.7322|AFR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||||||||||rs4040605|2827|1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.5034|0.7322|0.5331|0.4147|0.3559|0.4162||||||||||0.4672|0.6794|0.4923|0.4987|0.3694|0.3747|0.4159|0.4873|0.3555|0.4516|0.404|0.7322|AFR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||||||||||rs4040605|4846|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.5034|0.7322|0.5331|0.4147|0.3559|0.4162||||||||||0.4672|0.6794|0.4923|0.4987|0.3694|0.3747|0.4159|0.4873|0.3555|0.4516|0.404|0.7322|AFR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||||||||||rs4040605|4846|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.5034|0.7322|0.5331|0.4147|0.3559|0.4162||||||||||0.4672|0.6794|0.4923|0.4987|0.3694|0.3747|0.4159|0.4873|0.3555|0.4516|0.404|0.7322|AFR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000249804|promoter||||||||||rs4040605||||SNV||||||||||||||||||||0.5034|0.7322|0.5331|0.4147|0.3559|0.4162||||||||||0.4672|0.6794|0.4923|0.4987|0.3694|0.3747|0.4159|0.4873|0.3555|0.4516|0.404|0.7322|AFR|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344429|CTCF_binding_site||||||||||rs4040605||||SNV||||||||||||||||||||0.5034|0.7322|0.5331|0.4147|0.3559|0.4162||||||||||0.4672|0.6794|0.4923|0.4987|0.3694|0.3747|0.4159|0.4873|0.3555|0.4516|0.404|0.7322|AFR|||||||||||||,G|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00522326553|||||||||||rs4040605||1||SNV||||||||||||||||||||0.5034|0.7322|0.5331|0.4147|0.3559|0.4162||||||||||0.4672|0.6794|0.4923|0.4987|0.3694|0.3747|0.4159|0.4873|0.3555|0.4516|0.404|0.7322|AFR|||||ENSPFM0596|15|N|-0.002|TFAP2C::MAX|||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,6:0.556:12:0,0:3,3:3,4:3,3,3,3 -chr1 922226 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C2|1%2C1;DP=7;ECNT=1;GERMQ=40;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=80;POPAF=7.3;TLOD=6.25;SRC=custom;GRP=custom;CSQ=T|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding|||||||||||3505|1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA|||||||||||2534|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron|||||||||||3692|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding|||||||||||2924|1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,T|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron|||||||||||1210|-1||SNV|HGNC|HGNC:53933||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding|||||||||||1697|1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||||||||||||||||||||||||||||||||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding|||||||||||3716|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding|||||||||||3716|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding|||||||||||3716|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding|||||||||||1697|1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||||||||||||||||||||||||||||||||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding|||||||||||3716|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding|||||||||||3716|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:5,2:0.333:7:0,0:3,1:3,1:3,2,1,1 -chr1 922226 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|2%2C2;DP=7;ECNT=1;GERMQ=37;MBQ=34,34;MFRL=0,0;MMQ=60,60;MPOS=17;POPAF=7.3;TLOD=14.09;SRC=custom;GRP=custom;CSQ=T|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding|||||||||||3505|1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA|||||||||||2534|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron|||||||||||3692|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding|||||||||||2924|1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,T|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron|||||||||||1210|-1||SNV|HGNC|HGNC:53933||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding|||||||||||1697|1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||||||||||||||||||||||||||||||||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding|||||||||||3716|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding|||||||||||3716|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding|||||||||||3716|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding|||||||||||1697|1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||||||||||||||||||||||||||||||||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding|||||||||||3716|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding|||||||||||3716|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,4:0.604:6:0,0:1,2:1,2:1,1,2,2 -chr1 922348 . T G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C0|5%2C5;DP=11;ECNT=1;GERMQ=53;MBQ=31,34;MFRL=0,0;MMQ=60,60;MPOS=76;POPAF=7.3;TLOD=37.44;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||||||||||rs6689107|3383|1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.9543|0.8336|0.9928|1|0.996|1||||||||||0.955|0.8569|1|0.9766|0.9931|0.9992|0.9953|0.9968|0.9944|0.9617|0.9963|1|EAS&SAS&gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs6689107|2656|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.9543|0.8336|0.9928|1|0.996|1||||||||||0.955|0.8569|1|0.9766|0.9931|0.9992|0.9953|0.9968|0.9944|0.9617|0.9963|1|EAS&SAS&gnomADg_AMI|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||||||||||rs6689107|3814|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.9543|0.8336|0.9928|1|0.996|1||||||||||0.955|0.8569|1|0.9766|0.9931|0.9992|0.9953|0.9968|0.9944|0.9617|0.9963|1|EAS&SAS&gnomADg_AMI|||||||||||||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||||||||||rs6689107|2802|1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.9543|0.8336|0.9928|1|0.996|1||||||||||0.955|0.8569|1|0.9766|0.9931|0.9992|0.9953|0.9968|0.9944|0.9617|0.9963|1|EAS&SAS&gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,G|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs6689107|1332|-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.9543|0.8336|0.9928|1|0.996|1||||||||||0.955|0.8569|1|0.9766|0.9931|0.9992|0.9953|0.9968|0.9944|0.9617|0.9963|1|EAS&SAS&gnomADg_AMI|||||||||||||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||||||||||rs6689107|1575|1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.9543|0.8336|0.9928|1|0.996|1||||||||||0.955|0.8569|1|0.9766|0.9931|0.9992|0.9953|0.9968|0.9944|0.9617|0.9963|1|EAS&SAS&gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||||||||||rs6689107|3594|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.9543|0.8336|0.9928|1|0.996|1||||||||||0.955|0.8569|1|0.9766|0.9931|0.9992|0.9953|0.9968|0.9944|0.9617|0.9963|1|EAS&SAS&gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||||||||||rs6689107|3594|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.9543|0.8336|0.9928|1|0.996|1||||||||||0.955|0.8569|1|0.9766|0.9931|0.9992|0.9953|0.9968|0.9944|0.9617|0.9963|1|EAS&SAS&gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||||||||||rs6689107|3594|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.9543|0.8336|0.9928|1|0.996|1||||||||||0.955|0.8569|1|0.9766|0.9931|0.9992|0.9953|0.9968|0.9944|0.9617|0.9963|1|EAS&SAS&gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||||||||||rs6689107|1575|1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.9543|0.8336|0.9928|1|0.996|1||||||||||0.955|0.8569|1|0.9766|0.9931|0.9992|0.9953|0.9968|0.9944|0.9617|0.9963|1|EAS&SAS&gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||||||||||rs6689107|3594|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.9543|0.8336|0.9928|1|0.996|1||||||||||0.955|0.8569|1|0.9766|0.9931|0.9992|0.9953|0.9968|0.9944|0.9617|0.9963|1|EAS&SAS&gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||||||||||rs6689107|3594|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.9543|0.8336|0.9928|1|0.996|1||||||||||0.955|0.8569|1|0.9766|0.9931|0.9992|0.9953|0.9968|0.9944|0.9617|0.9963|1|EAS&SAS&gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,10:0.778:11:0,1:1,5:1,6:1,0,5,5 -chr1 922348 . T G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C3;DP=6;ECNT=1;GERMQ=55;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=30;POPAF=7.3;TLOD=18.44;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||||||||||rs6689107|3383|1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.9543|0.8336|0.9928|1|0.996|1||||||||||0.955|0.8569|1|0.9766|0.9931|0.9992|0.9953|0.9968|0.9944|0.9617|0.9963|1|EAS&SAS&gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs6689107|2656|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.9543|0.8336|0.9928|1|0.996|1||||||||||0.955|0.8569|1|0.9766|0.9931|0.9992|0.9953|0.9968|0.9944|0.9617|0.9963|1|EAS&SAS&gnomADg_AMI|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||||||||||rs6689107|3814|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.9543|0.8336|0.9928|1|0.996|1||||||||||0.955|0.8569|1|0.9766|0.9931|0.9992|0.9953|0.9968|0.9944|0.9617|0.9963|1|EAS&SAS&gnomADg_AMI|||||||||||||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||||||||||rs6689107|2802|1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.9543|0.8336|0.9928|1|0.996|1||||||||||0.955|0.8569|1|0.9766|0.9931|0.9992|0.9953|0.9968|0.9944|0.9617|0.9963|1|EAS&SAS&gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,G|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs6689107|1332|-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.9543|0.8336|0.9928|1|0.996|1||||||||||0.955|0.8569|1|0.9766|0.9931|0.9992|0.9953|0.9968|0.9944|0.9617|0.9963|1|EAS&SAS&gnomADg_AMI|||||||||||||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||||||||||rs6689107|1575|1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.9543|0.8336|0.9928|1|0.996|1||||||||||0.955|0.8569|1|0.9766|0.9931|0.9992|0.9953|0.9968|0.9944|0.9617|0.9963|1|EAS&SAS&gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||||||||||rs6689107|3594|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.9543|0.8336|0.9928|1|0.996|1||||||||||0.955|0.8569|1|0.9766|0.9931|0.9992|0.9953|0.9968|0.9944|0.9617|0.9963|1|EAS&SAS&gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||||||||||rs6689107|3594|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.9543|0.8336|0.9928|1|0.996|1||||||||||0.955|0.8569|1|0.9766|0.9931|0.9992|0.9953|0.9968|0.9944|0.9617|0.9963|1|EAS&SAS&gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||||||||||rs6689107|3594|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.9543|0.8336|0.9928|1|0.996|1||||||||||0.955|0.8569|1|0.9766|0.9931|0.9992|0.9953|0.9968|0.9944|0.9617|0.9963|1|EAS&SAS&gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||||||||||rs6689107|1575|1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.9543|0.8336|0.9928|1|0.996|1||||||||||0.955|0.8569|1|0.9766|0.9931|0.9992|0.9953|0.9968|0.9944|0.9617|0.9963|1|EAS&SAS&gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||||||||||rs6689107|3594|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.9543|0.8336|0.9928|1|0.996|1||||||||||0.955|0.8569|1|0.9766|0.9931|0.9992|0.9953|0.9968|0.9944|0.9617|0.9963|1|EAS&SAS&gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||||||||||rs6689107|3594|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.9543|0.8336|0.9928|1|0.996|1||||||||||0.955|0.8569|1|0.9766|0.9931|0.9992|0.9953|0.9968|0.9944|0.9617|0.9963|1|EAS&SAS&gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.811:5:0,1:0,2:0,3:0,0,2,3 -chr1 922660 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C1;DP=3;ECNT=2;GERMQ=49;MBQ=0,29;MFRL=0,0;MMQ=60,60;MPOS=57;POPAF=7.3;TLOD=10.15;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||||||||||rs4970460|3071|1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.1639|0.0393|0.2435|0.1478|0.2058|0.2495||||||||||0.1718|0.06674|0.3868|0.2211|0.2205|0.1403|0.1937|0.1911|0.2132|0.1829|0.2391|0.3868|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs4970460|2968|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.1639|0.0393|0.2435|0.1478|0.2058|0.2495||||||||||0.1718|0.06674|0.3868|0.2211|0.2205|0.1403|0.1937|0.1911|0.2132|0.1829|0.2391|0.3868|gnomADg_AMI|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||||||||||rs4970460|4126|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.1639|0.0393|0.2435|0.1478|0.2058|0.2495||||||||||0.1718|0.06674|0.3868|0.2211|0.2205|0.1403|0.1937|0.1911|0.2132|0.1829|0.2391|0.3868|gnomADg_AMI|||||||||||||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||||||||||rs4970460|2490|1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.1639|0.0393|0.2435|0.1478|0.2058|0.2495||||||||||0.1718|0.06674|0.3868|0.2211|0.2205|0.1403|0.1937|0.1911|0.2132|0.1829|0.2391|0.3868|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,A|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs4970460|1644|-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.1639|0.0393|0.2435|0.1478|0.2058|0.2495||||||||||0.1718|0.06674|0.3868|0.2211|0.2205|0.1403|0.1937|0.1911|0.2132|0.1829|0.2391|0.3868|gnomADg_AMI|||||||||||||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||||||||||rs4970460|1263|1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.1639|0.0393|0.2435|0.1478|0.2058|0.2495||||||||||0.1718|0.06674|0.3868|0.2211|0.2205|0.1403|0.1937|0.1911|0.2132|0.1829|0.2391|0.3868|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||||||||||rs4970460|3282|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.1639|0.0393|0.2435|0.1478|0.2058|0.2495||||||||||0.1718|0.06674|0.3868|0.2211|0.2205|0.1403|0.1937|0.1911|0.2132|0.1829|0.2391|0.3868|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||||||||||rs4970460|3282|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.1639|0.0393|0.2435|0.1478|0.2058|0.2495||||||||||0.1718|0.06674|0.3868|0.2211|0.2205|0.1403|0.1937|0.1911|0.2132|0.1829|0.2391|0.3868|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||||||||||rs4970460|3282|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.1639|0.0393|0.2435|0.1478|0.2058|0.2495||||||||||0.1718|0.06674|0.3868|0.2211|0.2205|0.1403|0.1937|0.1911|0.2132|0.1829|0.2391|0.3868|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||||||||||rs4970460|1263|1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.1639|0.0393|0.2435|0.1478|0.2058|0.2495||||||||||0.1718|0.06674|0.3868|0.2211|0.2205|0.1403|0.1937|0.1911|0.2132|0.1829|0.2391|0.3868|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||||||||||rs4970460|3282|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.1639|0.0393|0.2435|0.1478|0.2058|0.2495||||||||||0.1718|0.06674|0.3868|0.2211|0.2205|0.1403|0.1937|0.1911|0.2132|0.1829|0.2391|0.3868|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||||||||||rs4970460|3282|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.1639|0.0393|0.2435|0.1478|0.2058|0.2495||||||||||0.1718|0.06674|0.3868|0.2211|0.2205|0.1403|0.1937|0.1911|0.2132|0.1829|0.2391|0.3868|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164800|open_chromatin_region||||||||||rs4970460||||SNV||||||||||||||||||||0.1639|0.0393|0.2435|0.1478|0.2058|0.2495||||||||||0.1718|0.06674|0.3868|0.2211|0.2205|0.1403|0.1937|0.1911|0.2132|0.1829|0.2391|0.3868|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,0:0,2:0,2:0,0,2,1 -chr1 922660 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=2;GERMQ=52;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=63;POPAF=7.3;TLOD=14.83;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||||||||||rs4970460|3071|1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.1639|0.0393|0.2435|0.1478|0.2058|0.2495||||||||||0.1718|0.06674|0.3868|0.2211|0.2205|0.1403|0.1937|0.1911|0.2132|0.1829|0.2391|0.3868|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs4970460|2968|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.1639|0.0393|0.2435|0.1478|0.2058|0.2495||||||||||0.1718|0.06674|0.3868|0.2211|0.2205|0.1403|0.1937|0.1911|0.2132|0.1829|0.2391|0.3868|gnomADg_AMI|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||||||||||rs4970460|4126|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.1639|0.0393|0.2435|0.1478|0.2058|0.2495||||||||||0.1718|0.06674|0.3868|0.2211|0.2205|0.1403|0.1937|0.1911|0.2132|0.1829|0.2391|0.3868|gnomADg_AMI|||||||||||||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||||||||||rs4970460|2490|1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.1639|0.0393|0.2435|0.1478|0.2058|0.2495||||||||||0.1718|0.06674|0.3868|0.2211|0.2205|0.1403|0.1937|0.1911|0.2132|0.1829|0.2391|0.3868|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,A|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs4970460|1644|-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.1639|0.0393|0.2435|0.1478|0.2058|0.2495||||||||||0.1718|0.06674|0.3868|0.2211|0.2205|0.1403|0.1937|0.1911|0.2132|0.1829|0.2391|0.3868|gnomADg_AMI|||||||||||||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||||||||||rs4970460|1263|1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.1639|0.0393|0.2435|0.1478|0.2058|0.2495||||||||||0.1718|0.06674|0.3868|0.2211|0.2205|0.1403|0.1937|0.1911|0.2132|0.1829|0.2391|0.3868|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||||||||||rs4970460|3282|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.1639|0.0393|0.2435|0.1478|0.2058|0.2495||||||||||0.1718|0.06674|0.3868|0.2211|0.2205|0.1403|0.1937|0.1911|0.2132|0.1829|0.2391|0.3868|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||||||||||rs4970460|3282|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.1639|0.0393|0.2435|0.1478|0.2058|0.2495||||||||||0.1718|0.06674|0.3868|0.2211|0.2205|0.1403|0.1937|0.1911|0.2132|0.1829|0.2391|0.3868|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||||||||||rs4970460|3282|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.1639|0.0393|0.2435|0.1478|0.2058|0.2495||||||||||0.1718|0.06674|0.3868|0.2211|0.2205|0.1403|0.1937|0.1911|0.2132|0.1829|0.2391|0.3868|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||||||||||rs4970460|1263|1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.1639|0.0393|0.2435|0.1478|0.2058|0.2495||||||||||0.1718|0.06674|0.3868|0.2211|0.2205|0.1403|0.1937|0.1911|0.2132|0.1829|0.2391|0.3868|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||||||||||rs4970460|3282|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.1639|0.0393|0.2435|0.1478|0.2058|0.2495||||||||||0.1718|0.06674|0.3868|0.2211|0.2205|0.1403|0.1937|0.1911|0.2132|0.1829|0.2391|0.3868|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||||||||||rs4970460|3282|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.1639|0.0393|0.2435|0.1478|0.2058|0.2495||||||||||0.1718|0.06674|0.3868|0.2211|0.2205|0.1403|0.1937|0.1911|0.2132|0.1829|0.2391|0.3868|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164800|open_chromatin_region||||||||||rs4970460||||SNV||||||||||||||||||||0.1639|0.0393|0.2435|0.1478|0.2058|0.2495||||||||||0.1718|0.06674|0.3868|0.2211|0.2205|0.1403|0.1937|0.1911|0.2132|0.1829|0.2391|0.3868|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 922671 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C1;DP=3;ECNT=2;GERMQ=49;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=46;POPAF=7.3;TLOD=10.65;SRC=custom;GRP=custom;CSQ=T|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||||||||||rs4970459|3060|1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.1691|0.059|0.2435|0.1478|0.2058|0.2495||||||||||0.1756|0.07905|0.3877|0.2211|0.2209|0.1407|0.1948|0.193|0.2138|0.188|0.2391|0.3877|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs4970459|2979|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.1691|0.059|0.2435|0.1478|0.2058|0.2495||||||||||0.1756|0.07905|0.3877|0.2211|0.2209|0.1407|0.1948|0.193|0.2138|0.188|0.2391|0.3877|gnomADg_AMI|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||||||||||rs4970459|4137|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.1691|0.059|0.2435|0.1478|0.2058|0.2495||||||||||0.1756|0.07905|0.3877|0.2211|0.2209|0.1407|0.1948|0.193|0.2138|0.188|0.2391|0.3877|gnomADg_AMI|||||||||||||,T|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||||||||||rs4970459|2479|1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.1691|0.059|0.2435|0.1478|0.2058|0.2495||||||||||0.1756|0.07905|0.3877|0.2211|0.2209|0.1407|0.1948|0.193|0.2138|0.188|0.2391|0.3877|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,T|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs4970459|1655|-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.1691|0.059|0.2435|0.1478|0.2058|0.2495||||||||||0.1756|0.07905|0.3877|0.2211|0.2209|0.1407|0.1948|0.193|0.2138|0.188|0.2391|0.3877|gnomADg_AMI|||||||||||||,T|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||||||||||rs4970459|1252|1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.1691|0.059|0.2435|0.1478|0.2058|0.2495||||||||||0.1756|0.07905|0.3877|0.2211|0.2209|0.1407|0.1948|0.193|0.2138|0.188|0.2391|0.3877|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||||||||||rs4970459|3271|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.1691|0.059|0.2435|0.1478|0.2058|0.2495||||||||||0.1756|0.07905|0.3877|0.2211|0.2209|0.1407|0.1948|0.193|0.2138|0.188|0.2391|0.3877|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||||||||||rs4970459|3271|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.1691|0.059|0.2435|0.1478|0.2058|0.2495||||||||||0.1756|0.07905|0.3877|0.2211|0.2209|0.1407|0.1948|0.193|0.2138|0.188|0.2391|0.3877|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||||||||||rs4970459|3271|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.1691|0.059|0.2435|0.1478|0.2058|0.2495||||||||||0.1756|0.07905|0.3877|0.2211|0.2209|0.1407|0.1948|0.193|0.2138|0.188|0.2391|0.3877|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||||||||||rs4970459|1252|1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.1691|0.059|0.2435|0.1478|0.2058|0.2495||||||||||0.1756|0.07905|0.3877|0.2211|0.2209|0.1407|0.1948|0.193|0.2138|0.188|0.2391|0.3877|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||||||||||rs4970459|3271|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.1691|0.059|0.2435|0.1478|0.2058|0.2495||||||||||0.1756|0.07905|0.3877|0.2211|0.2209|0.1407|0.1948|0.193|0.2138|0.188|0.2391|0.3877|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||||||||||rs4970459|3271|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.1691|0.059|0.2435|0.1478|0.2058|0.2495||||||||||0.1756|0.07905|0.3877|0.2211|0.2209|0.1407|0.1948|0.193|0.2138|0.188|0.2391|0.3877|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164800|open_chromatin_region||||||||||rs4970459||||SNV||||||||||||||||||||0.1691|0.059|0.2435|0.1478|0.2058|0.2495||||||||||0.1756|0.07905|0.3877|0.2211|0.2209|0.1407|0.1948|0.193|0.2138|0.188|0.2391|0.3877|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,0:0,2:0,2:0,0,2,1 -chr1 922671 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=2;GERMQ=52;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=77;POPAF=7.3;TLOD=14.21;SRC=custom;GRP=custom;CSQ=T|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||||||||||rs4970459|3060|1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.1691|0.059|0.2435|0.1478|0.2058|0.2495||||||||||0.1756|0.07905|0.3877|0.2211|0.2209|0.1407|0.1948|0.193|0.2138|0.188|0.2391|0.3877|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs4970459|2979|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.1691|0.059|0.2435|0.1478|0.2058|0.2495||||||||||0.1756|0.07905|0.3877|0.2211|0.2209|0.1407|0.1948|0.193|0.2138|0.188|0.2391|0.3877|gnomADg_AMI|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||||||||||rs4970459|4137|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.1691|0.059|0.2435|0.1478|0.2058|0.2495||||||||||0.1756|0.07905|0.3877|0.2211|0.2209|0.1407|0.1948|0.193|0.2138|0.188|0.2391|0.3877|gnomADg_AMI|||||||||||||,T|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||||||||||rs4970459|2479|1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.1691|0.059|0.2435|0.1478|0.2058|0.2495||||||||||0.1756|0.07905|0.3877|0.2211|0.2209|0.1407|0.1948|0.193|0.2138|0.188|0.2391|0.3877|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,T|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs4970459|1655|-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.1691|0.059|0.2435|0.1478|0.2058|0.2495||||||||||0.1756|0.07905|0.3877|0.2211|0.2209|0.1407|0.1948|0.193|0.2138|0.188|0.2391|0.3877|gnomADg_AMI|||||||||||||,T|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||||||||||rs4970459|1252|1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.1691|0.059|0.2435|0.1478|0.2058|0.2495||||||||||0.1756|0.07905|0.3877|0.2211|0.2209|0.1407|0.1948|0.193|0.2138|0.188|0.2391|0.3877|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||||||||||rs4970459|3271|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.1691|0.059|0.2435|0.1478|0.2058|0.2495||||||||||0.1756|0.07905|0.3877|0.2211|0.2209|0.1407|0.1948|0.193|0.2138|0.188|0.2391|0.3877|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||||||||||rs4970459|3271|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.1691|0.059|0.2435|0.1478|0.2058|0.2495||||||||||0.1756|0.07905|0.3877|0.2211|0.2209|0.1407|0.1948|0.193|0.2138|0.188|0.2391|0.3877|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||||||||||rs4970459|3271|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.1691|0.059|0.2435|0.1478|0.2058|0.2495||||||||||0.1756|0.07905|0.3877|0.2211|0.2209|0.1407|0.1948|0.193|0.2138|0.188|0.2391|0.3877|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||||||||||rs4970459|1252|1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.1691|0.059|0.2435|0.1478|0.2058|0.2495||||||||||0.1756|0.07905|0.3877|0.2211|0.2209|0.1407|0.1948|0.193|0.2138|0.188|0.2391|0.3877|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||||||||||rs4970459|3271|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.1691|0.059|0.2435|0.1478|0.2058|0.2495||||||||||0.1756|0.07905|0.3877|0.2211|0.2209|0.1407|0.1948|0.193|0.2138|0.188|0.2391|0.3877|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||||||||||rs4970459|3271|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.1691|0.059|0.2435|0.1478|0.2058|0.2495||||||||||0.1756|0.07905|0.3877|0.2211|0.2209|0.1407|0.1948|0.193|0.2138|0.188|0.2391|0.3877|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164800|open_chromatin_region||||||||||rs4970459||||SNV||||||||||||||||||||0.1691|0.059|0.2435|0.1478|0.2058|0.2495||||||||||0.1756|0.07905|0.3877|0.2211|0.2209|0.1407|0.1948|0.193|0.2138|0.188|0.2391|0.3877|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.8:4:0,0:0,2:0,3:0,0,2,2 -chr1 923421 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=41;POPAF=7.3;TLOD=3.48;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||||||||||rs7418179|2310|1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.5130|0.2678|0.5879|0.4415|0.7753|0.5951||||||||||0.6099|0.3233|0.5813|0.6023|0.7328|0.4675|0.7736|0.7389|0.7636|0.6342|0.6155|0.7753|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs7418179|3729|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.5130|0.2678|0.5879|0.4415|0.7753|0.5951||||||||||0.6099|0.3233|0.5813|0.6023|0.7328|0.4675|0.7736|0.7389|0.7636|0.6342|0.6155|0.7753|EUR|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||||||||||rs7418179|4887|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.5130|0.2678|0.5879|0.4415|0.7753|0.5951||||||||||0.6099|0.3233|0.5813|0.6023|0.7328|0.4675|0.7736|0.7389|0.7636|0.6342|0.6155|0.7753|EUR|||||||||||||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||||||||||rs7418179|1729|1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.5130|0.2678|0.5879|0.4415|0.7753|0.5951||||||||||0.6099|0.3233|0.5813|0.6023|0.7328|0.4675|0.7736|0.7389|0.7636|0.6342|0.6155|0.7753|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,G|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs7418179|2405|-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.5130|0.2678|0.5879|0.4415|0.7753|0.5951||||||||||0.6099|0.3233|0.5813|0.6023|0.7328|0.4675|0.7736|0.7389|0.7636|0.6342|0.6155|0.7753|EUR|||||||||||||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||||||||||rs7418179|502|1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.5130|0.2678|0.5879|0.4415|0.7753|0.5951||||||||||0.6099|0.3233|0.5813|0.6023|0.7328|0.4675|0.7736|0.7389|0.7636|0.6342|0.6155|0.7753|EUR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||||||||||rs7418179|2521|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.5130|0.2678|0.5879|0.4415|0.7753|0.5951||||||||||0.6099|0.3233|0.5813|0.6023|0.7328|0.4675|0.7736|0.7389|0.7636|0.6342|0.6155|0.7753|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||||||||||rs7418179|2521|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.5130|0.2678|0.5879|0.4415|0.7753|0.5951||||||||||0.6099|0.3233|0.5813|0.6023|0.7328|0.4675|0.7736|0.7389|0.7636|0.6342|0.6155|0.7753|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||||||||||rs7418179|2521|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.5130|0.2678|0.5879|0.4415|0.7753|0.5951||||||||||0.6099|0.3233|0.5813|0.6023|0.7328|0.4675|0.7736|0.7389|0.7636|0.6342|0.6155|0.7753|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||||||||||rs7418179|502|1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.5130|0.2678|0.5879|0.4415|0.7753|0.5951||||||||||0.6099|0.3233|0.5813|0.6023|0.7328|0.4675|0.7736|0.7389|0.7636|0.6342|0.6155|0.7753|EUR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||||||||||rs7418179|2521|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.5130|0.2678|0.5879|0.4415|0.7753|0.5951||||||||||0.6099|0.3233|0.5813|0.6023|0.7328|0.4675|0.7736|0.7389|0.7636|0.6342|0.6155|0.7753|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||||||||||rs7418179|2521|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.5130|0.2678|0.5879|0.4415|0.7753|0.5951||||||||||0.6099|0.3233|0.5813|0.6023|0.7328|0.4675|0.7736|0.7389|0.7636|0.6342|0.6155|0.7753|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000105|promoter||||||||||rs7418179||||SNV||||||||||||||||||||0.5130|0.2678|0.5879|0.4415|0.7753|0.5951||||||||||0.6099|0.3233|0.5813|0.6023|0.7328|0.4675|0.7736|0.7389|0.7636|0.6342|0.6155|0.7753|EUR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 924024 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C3;DP=7;ECNT=1;GERMQ=60;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=90;POPAF=7.3;TLOD=25.34;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||||||||||rs71509444|1707|1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.6813|0.3268|0.8329|0.5565|0.9781|0.8763||||||||||0.7788|0.3942|0.9693|0.8205|0.957|0.5666|0.9571|0.914|0.9737|0.8135|0.877|0.9781|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs71509444|4332|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.6813|0.3268|0.8329|0.5565|0.9781|0.8763||||||||||0.7788|0.3942|0.9693|0.8205|0.957|0.5666|0.9571|0.914|0.9737|0.8135|0.877|0.9781|EUR|||||||||||||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||||||||||rs71509444|1126|1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.6813|0.3268|0.8329|0.5565|0.9781|0.8763||||||||||0.7788|0.3942|0.9693|0.8205|0.957|0.5666|0.9571|0.914|0.9737|0.8135|0.877|0.9781|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,G|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs71509444|3008|-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.6813|0.3268|0.8329|0.5565|0.9781|0.8763||||||||||0.7788|0.3942|0.9693|0.8205|0.957|0.5666|0.9571|0.914|0.9737|0.8135|0.877|0.9781|EUR|||||||||||||,G|5_prime_UTR_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding|1/14||ENST00000616016.5:c.-408C>G||102|||||rs71509444||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.6813|0.3268|0.8329|0.5565|0.9781|0.8763||||||||||0.7788|0.3942|0.9693|0.8205|0.957|0.5666|0.9571|0.914|0.9737|0.8135|0.877|0.9781|EUR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||||||||||rs71509444|1918|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.6813|0.3268|0.8329|0.5565|0.9781|0.8763||||||||||0.7788|0.3942|0.9693|0.8205|0.957|0.5666|0.9571|0.914|0.9737|0.8135|0.877|0.9781|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||||||||||rs71509444|1918|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.6813|0.3268|0.8329|0.5565|0.9781|0.8763||||||||||0.7788|0.3942|0.9693|0.8205|0.957|0.5666|0.9571|0.914|0.9737|0.8135|0.877|0.9781|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||||||||||rs71509444|1918|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.6813|0.3268|0.8329|0.5565|0.9781|0.8763||||||||||0.7788|0.3942|0.9693|0.8205|0.957|0.5666|0.9571|0.914|0.9737|0.8135|0.877|0.9781|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|5_prime_UTR_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding|1/14||ENST00000618323.5:c.-408C>G||102|||||rs71509444||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.6813|0.3268|0.8329|0.5565|0.9781|0.8763||||||||||0.7788|0.3942|0.9693|0.8205|0.957|0.5666|0.9571|0.914|0.9737|0.8135|0.877|0.9781|EUR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||||||||||rs71509444|1918|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.6813|0.3268|0.8329|0.5565|0.9781|0.8763||||||||||0.7788|0.3942|0.9693|0.8205|0.957|0.5666|0.9571|0.914|0.9737|0.8135|0.877|0.9781|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||||||||||rs71509444|1918|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.6813|0.3268|0.8329|0.5565|0.9781|0.8763||||||||||0.7788|0.3942|0.9693|0.8205|0.957|0.5666|0.9571|0.914|0.9737|0.8135|0.877|0.9781|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000105|promoter||||||||||rs71509444||||SNV||||||||||||||||||||0.6813|0.3268|0.8329|0.5565|0.9781|0.8763||||||||||0.7788|0.3942|0.9693|0.8205|0.957|0.5666|0.9571|0.914|0.9737|0.8135|0.877|0.9781|EUR|||||||||||||,G|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00000643357|||||||||||rs71509444||1||SNV||||||||||||||||||||0.6813|0.3268|0.8329|0.5565|0.9781|0.8763||||||||||0.7788|0.3942|0.9693|0.8205|0.957|0.5666|0.9571|0.914|0.9737|0.8135|0.877|0.9781|EUR|||||ENSPFM0617|10|N|-0.054|ZBTB7B&ZBTB7A&ZBTB7C|||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,7:0.833:7:0,0:0,4:0,4:0,0,4,3 -chr1 924305 . G A . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=3%2C2|1%2C2;DP=10;ECNT=4;GERMQ=38;MBQ=35,32;MFRL=0,0;MMQ=60,60;MPOS=112;POPAF=7.3;TLOD=11.69;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||||||||||rs111572704|1426|1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.1671|0.0643|0.2378|0.1012|0.1998|0.2904||||||||||0.1725|0.08128|0.378|0.2177|0.2257|0.0907|0.185|0.1955|0.21|0.1819|0.2679|0.378|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs111572704|4613|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.1671|0.0643|0.2378|0.1012|0.1998|0.2904||||||||||0.1725|0.08128|0.378|0.2177|0.2257|0.0907|0.185|0.1955|0.21|0.1819|0.2679|0.378|gnomADg_AMI|||||||||||||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||||||||||rs111572704|845|1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.1671|0.0643|0.2378|0.1012|0.1998|0.2904||||||||||0.1725|0.08128|0.378|0.2177|0.2257|0.0907|0.185|0.1955|0.21|0.1819|0.2679|0.378|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,A|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs111572704|3289|-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.1671|0.0643|0.2378|0.1012|0.1998|0.2904||||||||||0.1725|0.08128|0.378|0.2177|0.2257|0.0907|0.185|0.1955|0.21|0.1819|0.2679|0.378|gnomADg_AMI|||||||||||||,A|5_prime_UTR_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding|1/14||ENST00000616016.5:c.-127G>A||383|||||rs111572704||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.1671|0.0643|0.2378|0.1012|0.1998|0.2904||||||||||0.1725|0.08128|0.378|0.2177|0.2257|0.0907|0.185|0.1955|0.21|0.1819|0.2679|0.378|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||||||||||rs111572704|1637|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.1671|0.0643|0.2378|0.1012|0.1998|0.2904||||||||||0.1725|0.08128|0.378|0.2177|0.2257|0.0907|0.185|0.1955|0.21|0.1819|0.2679|0.378|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||||||||||rs111572704|1637|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.1671|0.0643|0.2378|0.1012|0.1998|0.2904||||||||||0.1725|0.08128|0.378|0.2177|0.2257|0.0907|0.185|0.1955|0.21|0.1819|0.2679|0.378|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||||||||||rs111572704|1637|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.1671|0.0643|0.2378|0.1012|0.1998|0.2904||||||||||0.1725|0.08128|0.378|0.2177|0.2257|0.0907|0.185|0.1955|0.21|0.1819|0.2679|0.378|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|5_prime_UTR_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding|1/14||ENST00000618323.5:c.-127G>A||383|||||rs111572704||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.1671|0.0643|0.2378|0.1012|0.1998|0.2904||||||||||0.1725|0.08128|0.378|0.2177|0.2257|0.0907|0.185|0.1955|0.21|0.1819|0.2679|0.378|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||||||||||rs111572704|1637|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.1671|0.0643|0.2378|0.1012|0.1998|0.2904||||||||||0.1725|0.08128|0.378|0.2177|0.2257|0.0907|0.185|0.1955|0.21|0.1819|0.2679|0.378|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||||||||||rs111572704|1637|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.1671|0.0643|0.2378|0.1012|0.1998|0.2904||||||||||0.1725|0.08128|0.378|0.2177|0.2257|0.0907|0.185|0.1955|0.21|0.1819|0.2679|0.378|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000105|promoter||||||||||rs111572704||||SNV||||||||||||||||||||0.1671|0.0643|0.2378|0.1012|0.1998|0.2904||||||||||0.1725|0.08128|0.378|0.2177|0.2257|0.0907|0.185|0.1955|0.21|0.1819|0.2679|0.378|gnomADg_AMI|||||||||||||,A|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00525502659|||||||||||rs111572704||1||SNV||||||||||||||||||||0.1671|0.0643|0.2378|0.1012|0.1998|0.2904||||||||||0.1725|0.08128|0.378|0.2177|0.2257|0.0907|0.185|0.1955|0.21|0.1819|0.2679|0.378|gnomADg_AMI|||||ENSPFM0066|2|N|-0.066|E2F1::ELK1|||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:5,3:0.427:8:0,1:3,1:3,2:0|1:924305_G_A:924305:3,2,1,2 -chr1 924310 . C G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C5;DP=9;ECNT=4;GERMQ=66;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=60;POPAF=7.3;TLOD=35.98;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||||||||||rs71509445|1421|1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.6923|0.3737|0.8343|0.5476|0.9791|0.8763||||||||||0.7968|0.4464|0.9693|0.8318|0.9635|0.564|0.9606|0.9391|0.9791|0.8283|0.8798|0.9791|EUR&gnomADg_NFE|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs71509445|4618|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.6923|0.3737|0.8343|0.5476|0.9791|0.8763||||||||||0.7968|0.4464|0.9693|0.8318|0.9635|0.564|0.9606|0.9391|0.9791|0.8283|0.8798|0.9791|EUR&gnomADg_NFE|||||||||||||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||||||||||rs71509445|840|1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.6923|0.3737|0.8343|0.5476|0.9791|0.8763||||||||||0.7968|0.4464|0.9693|0.8318|0.9635|0.564|0.9606|0.9391|0.9791|0.8283|0.8798|0.9791|EUR&gnomADg_NFE|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,G|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs71509445|3294|-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.6923|0.3737|0.8343|0.5476|0.9791|0.8763||||||||||0.7968|0.4464|0.9693|0.8318|0.9635|0.564|0.9606|0.9391|0.9791|0.8283|0.8798|0.9791|EUR&gnomADg_NFE|||||||||||||,G|5_prime_UTR_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding|1/14||ENST00000616016.5:c.-122C>G||388|||||rs71509445||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.6923|0.3737|0.8343|0.5476|0.9791|0.8763||||||||||0.7968|0.4464|0.9693|0.8318|0.9635|0.564|0.9606|0.9391|0.9791|0.8283|0.8798|0.9791|EUR&gnomADg_NFE|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||||||||||rs71509445|1632|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.6923|0.3737|0.8343|0.5476|0.9791|0.8763||||||||||0.7968|0.4464|0.9693|0.8318|0.9635|0.564|0.9606|0.9391|0.9791|0.8283|0.8798|0.9791|EUR&gnomADg_NFE|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||||||||||rs71509445|1632|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.6923|0.3737|0.8343|0.5476|0.9791|0.8763||||||||||0.7968|0.4464|0.9693|0.8318|0.9635|0.564|0.9606|0.9391|0.9791|0.8283|0.8798|0.9791|EUR&gnomADg_NFE|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||||||||||rs71509445|1632|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.6923|0.3737|0.8343|0.5476|0.9791|0.8763||||||||||0.7968|0.4464|0.9693|0.8318|0.9635|0.564|0.9606|0.9391|0.9791|0.8283|0.8798|0.9791|EUR&gnomADg_NFE|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|5_prime_UTR_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding|1/14||ENST00000618323.5:c.-122C>G||388|||||rs71509445||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.6923|0.3737|0.8343|0.5476|0.9791|0.8763||||||||||0.7968|0.4464|0.9693|0.8318|0.9635|0.564|0.9606|0.9391|0.9791|0.8283|0.8798|0.9791|EUR&gnomADg_NFE|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||||||||||rs71509445|1632|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.6923|0.3737|0.8343|0.5476|0.9791|0.8763||||||||||0.7968|0.4464|0.9693|0.8318|0.9635|0.564|0.9606|0.9391|0.9791|0.8283|0.8798|0.9791|EUR&gnomADg_NFE|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||||||||||rs71509445|1632|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.6923|0.3737|0.8343|0.5476|0.9791|0.8763||||||||||0.7968|0.4464|0.9693|0.8318|0.9635|0.564|0.9606|0.9391|0.9791|0.8283|0.8798|0.9791|EUR&gnomADg_NFE|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000105|promoter||||||||||rs71509445||||SNV||||||||||||||||||||0.6923|0.3737|0.8343|0.5476|0.9791|0.8763||||||||||0.7968|0.4464|0.9693|0.8318|0.9635|0.564|0.9606|0.9391|0.9791|0.8283|0.8798|0.9791|EUR&gnomADg_NFE|||||||||||||,G|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00525502659|||||||||||rs71509445||1||SNV||||||||||||||||||||0.6923|0.3737|0.8343|0.5476|0.9791|0.8763||||||||||0.7968|0.4464|0.9693|0.8318|0.9635|0.564|0.9606|0.9391|0.9791|0.8283|0.8798|0.9791|EUR&gnomADg_NFE|||||ENSPFM0066|7|N|-0.019|E2F1::ELK1|||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,9:0.857:9:0,1:0,4:0,5:0,0,4,5 -chr1 924310 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C1;DP=4;ECNT=2;GERMQ=50;MBQ=0,29;MFRL=0,0;MMQ=60,60;MPOS=13;POPAF=7.3;TLOD=9.75;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||||||||||rs71509445|1421|1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.6923|0.3737|0.8343|0.5476|0.9791|0.8763||||||||||0.7968|0.4464|0.9693|0.8318|0.9635|0.564|0.9606|0.9391|0.9791|0.8283|0.8798|0.9791|EUR&gnomADg_NFE|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs71509445|4618|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.6923|0.3737|0.8343|0.5476|0.9791|0.8763||||||||||0.7968|0.4464|0.9693|0.8318|0.9635|0.564|0.9606|0.9391|0.9791|0.8283|0.8798|0.9791|EUR&gnomADg_NFE|||||||||||||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||||||||||rs71509445|840|1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.6923|0.3737|0.8343|0.5476|0.9791|0.8763||||||||||0.7968|0.4464|0.9693|0.8318|0.9635|0.564|0.9606|0.9391|0.9791|0.8283|0.8798|0.9791|EUR&gnomADg_NFE|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,G|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs71509445|3294|-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.6923|0.3737|0.8343|0.5476|0.9791|0.8763||||||||||0.7968|0.4464|0.9693|0.8318|0.9635|0.564|0.9606|0.9391|0.9791|0.8283|0.8798|0.9791|EUR&gnomADg_NFE|||||||||||||,G|5_prime_UTR_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding|1/14||ENST00000616016.5:c.-122C>G||388|||||rs71509445||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.6923|0.3737|0.8343|0.5476|0.9791|0.8763||||||||||0.7968|0.4464|0.9693|0.8318|0.9635|0.564|0.9606|0.9391|0.9791|0.8283|0.8798|0.9791|EUR&gnomADg_NFE|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||||||||||rs71509445|1632|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.6923|0.3737|0.8343|0.5476|0.9791|0.8763||||||||||0.7968|0.4464|0.9693|0.8318|0.9635|0.564|0.9606|0.9391|0.9791|0.8283|0.8798|0.9791|EUR&gnomADg_NFE|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||||||||||rs71509445|1632|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.6923|0.3737|0.8343|0.5476|0.9791|0.8763||||||||||0.7968|0.4464|0.9693|0.8318|0.9635|0.564|0.9606|0.9391|0.9791|0.8283|0.8798|0.9791|EUR&gnomADg_NFE|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||||||||||rs71509445|1632|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.6923|0.3737|0.8343|0.5476|0.9791|0.8763||||||||||0.7968|0.4464|0.9693|0.8318|0.9635|0.564|0.9606|0.9391|0.9791|0.8283|0.8798|0.9791|EUR&gnomADg_NFE|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|5_prime_UTR_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding|1/14||ENST00000618323.5:c.-122C>G||388|||||rs71509445||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.6923|0.3737|0.8343|0.5476|0.9791|0.8763||||||||||0.7968|0.4464|0.9693|0.8318|0.9635|0.564|0.9606|0.9391|0.9791|0.8283|0.8798|0.9791|EUR&gnomADg_NFE|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||||||||||rs71509445|1632|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.6923|0.3737|0.8343|0.5476|0.9791|0.8763||||||||||0.7968|0.4464|0.9693|0.8318|0.9635|0.564|0.9606|0.9391|0.9791|0.8283|0.8798|0.9791|EUR&gnomADg_NFE|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||||||||||rs71509445|1632|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.6923|0.3737|0.8343|0.5476|0.9791|0.8763||||||||||0.7968|0.4464|0.9693|0.8318|0.9635|0.564|0.9606|0.9391|0.9791|0.8283|0.8798|0.9791|EUR&gnomADg_NFE|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000105|promoter||||||||||rs71509445||||SNV||||||||||||||||||||0.6923|0.3737|0.8343|0.5476|0.9791|0.8763||||||||||0.7968|0.4464|0.9693|0.8318|0.9635|0.564|0.9606|0.9391|0.9791|0.8283|0.8798|0.9791|EUR&gnomADg_NFE|||||||||||||,G|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00525502659|||||||||||rs71509445||1||SNV||||||||||||||||||||0.6923|0.3737|0.8343|0.5476|0.9791|0.8763||||||||||0.7968|0.4464|0.9693|0.8318|0.9635|0.564|0.9606|0.9391|0.9791|0.8283|0.8798|0.9791|EUR&gnomADg_NFE|||||ENSPFM0066|7|N|-0.019|E2F1::ELK1|||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,0:0,2:0,2:0,0,2,1 -chr1 924314 . C A . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=3%2C3|1%2C2;DP=12;ECNT=4;GERMQ=39;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=121;POPAF=7.3;TLOD=11.66;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding|||||||||||1417|1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA|||||||||||4622|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding|||||||||||836|1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,A|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron|||||||||||3298|-1||SNV|HGNC|HGNC:53933||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|5_prime_UTR_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding|1/14||ENST00000616016.5:c.-118C>A||392|||||||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||||||||||||||||||||||||||||||||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding|||||||||||1628|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding|||||||||||1628|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding|||||||||||1628|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|5_prime_UTR_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding|1/14||ENST00000618323.5:c.-118C>A||392|||||||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||||||||||||||||||||||||||||||||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding|||||||||||1628|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding|||||||||||1628|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000105|promoter||||||||||||||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00525502659|||||||||||||1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||ENSPFM0066|11|N|-0.049|E2F1::ELK1|||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:6,3:0.426:9:0,1:3,1:3,2:0|1:924305_G_A:924305:3,3,1,2 -chr1 924321 . C G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|8%2C7;DP=15;ECNT=4;GERMQ=84;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=12;POPAF=7.3;TLOD=58.21;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||||||||||rs71509446|1410|1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.6923|0.3737|0.8343|0.5476|0.9791|0.8763||||||||||0.7969|0.4469|0.9693|0.8318|0.9635|0.5645|0.9608|0.9391|0.9792|0.829|0.8798|0.9792|gnomADg_NFE|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs71509446|4629|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.6923|0.3737|0.8343|0.5476|0.9791|0.8763||||||||||0.7969|0.4469|0.9693|0.8318|0.9635|0.5645|0.9608|0.9391|0.9792|0.829|0.8798|0.9792|gnomADg_NFE|||||||||||||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||||||||||rs71509446|829|1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.6923|0.3737|0.8343|0.5476|0.9791|0.8763||||||||||0.7969|0.4469|0.9693|0.8318|0.9635|0.5645|0.9608|0.9391|0.9792|0.829|0.8798|0.9792|gnomADg_NFE|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,G|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs71509446|3305|-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.6923|0.3737|0.8343|0.5476|0.9791|0.8763||||||||||0.7969|0.4469|0.9693|0.8318|0.9635|0.5645|0.9608|0.9391|0.9792|0.829|0.8798|0.9792|gnomADg_NFE|||||||||||||,G|5_prime_UTR_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding|1/14||ENST00000616016.5:c.-111C>G||399|||||rs71509446||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.6923|0.3737|0.8343|0.5476|0.9791|0.8763||||||||||0.7969|0.4469|0.9693|0.8318|0.9635|0.5645|0.9608|0.9391|0.9792|0.829|0.8798|0.9792|gnomADg_NFE|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||||||||||rs71509446|1621|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.6923|0.3737|0.8343|0.5476|0.9791|0.8763||||||||||0.7969|0.4469|0.9693|0.8318|0.9635|0.5645|0.9608|0.9391|0.9792|0.829|0.8798|0.9792|gnomADg_NFE|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||||||||||rs71509446|1621|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.6923|0.3737|0.8343|0.5476|0.9791|0.8763||||||||||0.7969|0.4469|0.9693|0.8318|0.9635|0.5645|0.9608|0.9391|0.9792|0.829|0.8798|0.9792|gnomADg_NFE|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||||||||||rs71509446|1621|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.6923|0.3737|0.8343|0.5476|0.9791|0.8763||||||||||0.7969|0.4469|0.9693|0.8318|0.9635|0.5645|0.9608|0.9391|0.9792|0.829|0.8798|0.9792|gnomADg_NFE|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|5_prime_UTR_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding|1/14||ENST00000618323.5:c.-111C>G||399|||||rs71509446||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.6923|0.3737|0.8343|0.5476|0.9791|0.8763||||||||||0.7969|0.4469|0.9693|0.8318|0.9635|0.5645|0.9608|0.9391|0.9792|0.829|0.8798|0.9792|gnomADg_NFE|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||||||||||rs71509446|1621|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.6923|0.3737|0.8343|0.5476|0.9791|0.8763||||||||||0.7969|0.4469|0.9693|0.8318|0.9635|0.5645|0.9608|0.9391|0.9792|0.829|0.8798|0.9792|gnomADg_NFE|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||||||||||rs71509446|1621|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.6923|0.3737|0.8343|0.5476|0.9791|0.8763||||||||||0.7969|0.4469|0.9693|0.8318|0.9635|0.5645|0.9608|0.9391|0.9792|0.829|0.8798|0.9792|gnomADg_NFE|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000105|promoter||||||||||rs71509446||||SNV||||||||||||||||||||0.6923|0.3737|0.8343|0.5476|0.9791|0.8763||||||||||0.7969|0.4469|0.9693|0.8318|0.9635|0.5645|0.9608|0.9391|0.9792|0.829|0.8798|0.9792|gnomADg_NFE||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,15:0.909:15:0,1:0,7:0,9:0,0,8,7 -chr1 924321 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=6;ECNT=2;GERMQ=52;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=23;POPAF=7.3;TLOD=14.98;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||||||||||rs71509446|1410|1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.6923|0.3737|0.8343|0.5476|0.9791|0.8763||||||||||0.7969|0.4469|0.9693|0.8318|0.9635|0.5645|0.9608|0.9391|0.9792|0.829|0.8798|0.9792|gnomADg_NFE|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs71509446|4629|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.6923|0.3737|0.8343|0.5476|0.9791|0.8763||||||||||0.7969|0.4469|0.9693|0.8318|0.9635|0.5645|0.9608|0.9391|0.9792|0.829|0.8798|0.9792|gnomADg_NFE|||||||||||||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||||||||||rs71509446|829|1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.6923|0.3737|0.8343|0.5476|0.9791|0.8763||||||||||0.7969|0.4469|0.9693|0.8318|0.9635|0.5645|0.9608|0.9391|0.9792|0.829|0.8798|0.9792|gnomADg_NFE|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,G|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs71509446|3305|-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.6923|0.3737|0.8343|0.5476|0.9791|0.8763||||||||||0.7969|0.4469|0.9693|0.8318|0.9635|0.5645|0.9608|0.9391|0.9792|0.829|0.8798|0.9792|gnomADg_NFE|||||||||||||,G|5_prime_UTR_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding|1/14||ENST00000616016.5:c.-111C>G||399|||||rs71509446||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.6923|0.3737|0.8343|0.5476|0.9791|0.8763||||||||||0.7969|0.4469|0.9693|0.8318|0.9635|0.5645|0.9608|0.9391|0.9792|0.829|0.8798|0.9792|gnomADg_NFE|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||||||||||rs71509446|1621|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.6923|0.3737|0.8343|0.5476|0.9791|0.8763||||||||||0.7969|0.4469|0.9693|0.8318|0.9635|0.5645|0.9608|0.9391|0.9792|0.829|0.8798|0.9792|gnomADg_NFE|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||||||||||rs71509446|1621|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.6923|0.3737|0.8343|0.5476|0.9791|0.8763||||||||||0.7969|0.4469|0.9693|0.8318|0.9635|0.5645|0.9608|0.9391|0.9792|0.829|0.8798|0.9792|gnomADg_NFE|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||||||||||rs71509446|1621|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.6923|0.3737|0.8343|0.5476|0.9791|0.8763||||||||||0.7969|0.4469|0.9693|0.8318|0.9635|0.5645|0.9608|0.9391|0.9792|0.829|0.8798|0.9792|gnomADg_NFE|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|5_prime_UTR_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding|1/14||ENST00000618323.5:c.-111C>G||399|||||rs71509446||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.6923|0.3737|0.8343|0.5476|0.9791|0.8763||||||||||0.7969|0.4469|0.9693|0.8318|0.9635|0.5645|0.9608|0.9391|0.9792|0.829|0.8798|0.9792|gnomADg_NFE|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||||||||||rs71509446|1621|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.6923|0.3737|0.8343|0.5476|0.9791|0.8763||||||||||0.7969|0.4469|0.9693|0.8318|0.9635|0.5645|0.9608|0.9391|0.9792|0.829|0.8798|0.9792|gnomADg_NFE|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||||||||||rs71509446|1621|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.6923|0.3737|0.8343|0.5476|0.9791|0.8763||||||||||0.7969|0.4469|0.9693|0.8318|0.9635|0.5645|0.9608|0.9391|0.9792|0.829|0.8798|0.9792|gnomADg_NFE|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000105|promoter||||||||||rs71509446||||SNV||||||||||||||||||||0.6923|0.3737|0.8343|0.5476|0.9791|0.8763||||||||||0.7969|0.4469|0.9693|0.8318|0.9635|0.5645|0.9608|0.9391|0.9792|0.829|0.8798|0.9792|gnomADg_NFE||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.764:4:0,0:0,2:0,2:0,0,2,2 -chr1 924492 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=9%2C9|1%2C1;DP=20;ECNT=2;GERMQ=66;MBQ=33,35;MFRL=0,0;MMQ=60,60;MPOS=95;POPAF=7.3;TLOD=5.73;SRC=custom;GRP=custom;CSQ=C|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding|||||||||||1239|1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA|||||||||||4800|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding|||||||||||658|1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,C|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron|||||||||||3476|-1||SNV|HGNC|HGNC:53933||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|missense_variant|MODERATE|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding|1/14||ENST00000616016.5:c.61T>C|ENSP00000478421.2:p.Phe21Leu|570|61|21|F/L|Ttc/Ctc|||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1|deleterious_low_confidence(0)|benign(0.007)||||||||||||||||||||||||||||||||||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding|||||||||||1450|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding|||||||||||1450|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding|||||||||||1450|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|missense_variant|MODERATE|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding|1/14||ENST00000618323.5:c.61T>C|ENSP00000480678.2:p.Phe21Leu|570|61|21|F/L|Ttc/Ctc|||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1|deleterious_low_confidence(0)|benign(0.302)||||||||||||||||||||||||||||||||||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding|||||||||||1450|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding|||||||||||1450|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000105|promoter||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:18,2:0.154:20:0,0:8,1:10,1:9,9,1,1 -chr1 924533 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|11%2C14;DP=25;ECNT=1;GERMQ=93;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=85;POPAF=7.3;TLOD=91.24;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||||||||||rs112703963|1198|1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.7498|0.4039|0.9366|0.6944|0.9811|0.9039||||||||||0.8215|0.4795|0.9693|0.9213|0.9732|0.6886|0.9618|0.9427|0.9802|0.8549|0.9098|0.9811|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs112703963|4841|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.7498|0.4039|0.9366|0.6944|0.9811|0.9039||||||||||0.8215|0.4795|0.9693|0.9213|0.9732|0.6886|0.9618|0.9427|0.9802|0.8549|0.9098|0.9811|EUR|||||||||||||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||||||||||rs112703963|617|1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.7498|0.4039|0.9366|0.6944|0.9811|0.9039||||||||||0.8215|0.4795|0.9693|0.9213|0.9732|0.6886|0.9618|0.9427|0.9802|0.8549|0.9098|0.9811|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,G|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs112703963|3517|-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.7498|0.4039|0.9366|0.6944|0.9811|0.9039||||||||||0.8215|0.4795|0.9693|0.9213|0.9732|0.6886|0.9618|0.9427|0.9802|0.8549|0.9098|0.9811|EUR|||||||||||||,G|synonymous_variant|LOW|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding|1/14||ENST00000616016.5:c.102A>G|ENSP00000478421.2:p.Pro34%3D|611|102|34|P|ccA/ccG|rs112703963||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.7498|0.4039|0.9366|0.6944|0.9811|0.9039||||||||||0.8215|0.4795|0.9693|0.9213|0.9732|0.6886|0.9618|0.9427|0.9802|0.8549|0.9098|0.9811|EUR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||||||||||rs112703963|1409|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.7498|0.4039|0.9366|0.6944|0.9811|0.9039||||||||||0.8215|0.4795|0.9693|0.9213|0.9732|0.6886|0.9618|0.9427|0.9802|0.8549|0.9098|0.9811|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||||||||||rs112703963|1409|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.7498|0.4039|0.9366|0.6944|0.9811|0.9039||||||||||0.8215|0.4795|0.9693|0.9213|0.9732|0.6886|0.9618|0.9427|0.9802|0.8549|0.9098|0.9811|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||||||||||rs112703963|1409|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.7498|0.4039|0.9366|0.6944|0.9811|0.9039||||||||||0.8215|0.4795|0.9693|0.9213|0.9732|0.6886|0.9618|0.9427|0.9802|0.8549|0.9098|0.9811|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|synonymous_variant|LOW|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding|1/14||ENST00000618323.5:c.102A>G|ENSP00000480678.2:p.Pro34%3D|611|102|34|P|ccA/ccG|rs112703963||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.7498|0.4039|0.9366|0.6944|0.9811|0.9039||||||||||0.8215|0.4795|0.9693|0.9213|0.9732|0.6886|0.9618|0.9427|0.9802|0.8549|0.9098|0.9811|EUR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||||||||||rs112703963|1409|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.7498|0.4039|0.9366|0.6944|0.9811|0.9039||||||||||0.8215|0.4795|0.9693|0.9213|0.9732|0.6886|0.9618|0.9427|0.9802|0.8549|0.9098|0.9811|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||||||||||rs112703963|1409|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.7498|0.4039|0.9366|0.6944|0.9811|0.9039||||||||||0.8215|0.4795|0.9693|0.9213|0.9732|0.6886|0.9618|0.9427|0.9802|0.8549|0.9098|0.9811|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000105|promoter||||||||||rs112703963||||SNV||||||||||||||||||||0.7498|0.4039|0.9366|0.6944|0.9811|0.9039||||||||||0.8215|0.4795|0.9693|0.9213|0.9732|0.6886|0.9618|0.9427|0.9802|0.8549|0.9098|0.9811|EUR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,25:0.937:25:0,2:0,11:0,14:0,0,11,14 -chr1 924533 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|6%2C6;DP=14;ECNT=2;GERMQ=76;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=100;POPAF=7.3;TLOD=44.35;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||||||||||rs112703963|1198|1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.7498|0.4039|0.9366|0.6944|0.9811|0.9039||||||||||0.8215|0.4795|0.9693|0.9213|0.9732|0.6886|0.9618|0.9427|0.9802|0.8549|0.9098|0.9811|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs112703963|4841|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.7498|0.4039|0.9366|0.6944|0.9811|0.9039||||||||||0.8215|0.4795|0.9693|0.9213|0.9732|0.6886|0.9618|0.9427|0.9802|0.8549|0.9098|0.9811|EUR|||||||||||||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||||||||||rs112703963|617|1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.7498|0.4039|0.9366|0.6944|0.9811|0.9039||||||||||0.8215|0.4795|0.9693|0.9213|0.9732|0.6886|0.9618|0.9427|0.9802|0.8549|0.9098|0.9811|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,G|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs112703963|3517|-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.7498|0.4039|0.9366|0.6944|0.9811|0.9039||||||||||0.8215|0.4795|0.9693|0.9213|0.9732|0.6886|0.9618|0.9427|0.9802|0.8549|0.9098|0.9811|EUR|||||||||||||,G|synonymous_variant|LOW|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding|1/14||ENST00000616016.5:c.102A>G|ENSP00000478421.2:p.Pro34%3D|611|102|34|P|ccA/ccG|rs112703963||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.7498|0.4039|0.9366|0.6944|0.9811|0.9039||||||||||0.8215|0.4795|0.9693|0.9213|0.9732|0.6886|0.9618|0.9427|0.9802|0.8549|0.9098|0.9811|EUR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||||||||||rs112703963|1409|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.7498|0.4039|0.9366|0.6944|0.9811|0.9039||||||||||0.8215|0.4795|0.9693|0.9213|0.9732|0.6886|0.9618|0.9427|0.9802|0.8549|0.9098|0.9811|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||||||||||rs112703963|1409|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.7498|0.4039|0.9366|0.6944|0.9811|0.9039||||||||||0.8215|0.4795|0.9693|0.9213|0.9732|0.6886|0.9618|0.9427|0.9802|0.8549|0.9098|0.9811|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||||||||||rs112703963|1409|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.7498|0.4039|0.9366|0.6944|0.9811|0.9039||||||||||0.8215|0.4795|0.9693|0.9213|0.9732|0.6886|0.9618|0.9427|0.9802|0.8549|0.9098|0.9811|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|synonymous_variant|LOW|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding|1/14||ENST00000618323.5:c.102A>G|ENSP00000480678.2:p.Pro34%3D|611|102|34|P|ccA/ccG|rs112703963||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.7498|0.4039|0.9366|0.6944|0.9811|0.9039||||||||||0.8215|0.4795|0.9693|0.9213|0.9732|0.6886|0.9618|0.9427|0.9802|0.8549|0.9098|0.9811|EUR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||||||||||rs112703963|1409|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.7498|0.4039|0.9366|0.6944|0.9811|0.9039||||||||||0.8215|0.4795|0.9693|0.9213|0.9732|0.6886|0.9618|0.9427|0.9802|0.8549|0.9098|0.9811|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||||||||||rs112703963|1409|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.7498|0.4039|0.9366|0.6944|0.9811|0.9039||||||||||0.8215|0.4795|0.9693|0.9213|0.9732|0.6886|0.9618|0.9427|0.9802|0.8549|0.9098|0.9811|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000105|promoter||||||||||rs112703963||||SNV||||||||||||||||||||0.7498|0.4039|0.9366|0.6944|0.9811|0.9039||||||||||0.8215|0.4795|0.9693|0.9213|0.9732|0.6886|0.9618|0.9427|0.9802|0.8549|0.9098|0.9811|EUR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,12:0.903:12:0,0:0,6:0,8:0,0,6,6 -chr1 924705 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4%2C3|1%2C1;DP=9;ECNT=1;GERMQ=43;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=19;POPAF=7.3;TLOD=6.08;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding|||||||||||1026|1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding|||||||||||445|1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,A|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron|||||||||||3689|-1||SNV|HGNC|HGNC:53933||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|missense_variant|MODERATE|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding|1/14||ENST00000616016.5:c.274C>A|ENSP00000478421.2:p.Leu92Ile|783|274|92|L/I|Ctc/Atc|||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1|deleterious_low_confidence(0)|benign(0)||||||||||||||||||||||||||||||||||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding|||||||||||1237|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding|||||||||||1237|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding|||||||||||1237|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|missense_variant|MODERATE|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding|1/14||ENST00000618323.5:c.274C>A|ENSP00000480678.2:p.Leu92Ile|783|274|92|L/I|Ctc/Atc|||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1|deleterious_low_confidence(0)|benign(0)||||||||||||||||||||||||||||||||||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding|||||||||||1237|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding|||||||||||1237|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000105|promoter||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,2:0.286:9:0,0:4,1:4,1:4,3,1,1 -chr1 925036 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C2;DP=6;ECNT=2;GERMQ=37;MBQ=31,33;MFRL=0,0;MMQ=60,60;MPOS=53;POPAF=7.3;TLOD=10.25;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||||||||||rs61464428|695|1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.5114|0.2564|0.5951|0.4464|0.7763|0.591||||||||||0.6079|0.3145|0.5899|0.6062|0.7361|0.4694|0.7727|0.7308|0.7635|0.6334|0.6107|0.7763|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||||||||||rs61464428|114|1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.5114|0.2564|0.5951|0.4464|0.7763|0.591||||||||||0.6079|0.3145|0.5899|0.6062|0.7361|0.4694|0.7727|0.7308|0.7635|0.6334|0.6107|0.7763|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,A|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs61464428|4020|-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.5114|0.2564|0.5951|0.4464|0.7763|0.591||||||||||0.6079|0.3145|0.5899|0.6062|0.7361|0.4694|0.7727|0.7308|0.7635|0.6334|0.6107|0.7763|EUR|||||||||||||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||1/13|ENST00000616016.5:c.517+88G>A|||||||rs61464428||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.5114|0.2564|0.5951|0.4464|0.7763|0.591||||||||||0.6079|0.3145|0.5899|0.6062|0.7361|0.4694|0.7727|0.7308|0.7635|0.6334|0.6107|0.7763|EUR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||||||||||rs61464428|906|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.5114|0.2564|0.5951|0.4464|0.7763|0.591||||||||||0.6079|0.3145|0.5899|0.6062|0.7361|0.4694|0.7727|0.7308|0.7635|0.6334|0.6107|0.7763|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||||||||||rs61464428|906|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.5114|0.2564|0.5951|0.4464|0.7763|0.591||||||||||0.6079|0.3145|0.5899|0.6062|0.7361|0.4694|0.7727|0.7308|0.7635|0.6334|0.6107|0.7763|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||||||||||rs61464428|906|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.5114|0.2564|0.5951|0.4464|0.7763|0.591||||||||||0.6079|0.3145|0.5899|0.6062|0.7361|0.4694|0.7727|0.7308|0.7635|0.6334|0.6107|0.7763|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||1/13|ENST00000618323.5:c.517+88G>A|||||||rs61464428||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.5114|0.2564|0.5951|0.4464|0.7763|0.591||||||||||0.6079|0.3145|0.5899|0.6062|0.7361|0.4694|0.7727|0.7308|0.7635|0.6334|0.6107|0.7763|EUR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||||||||||rs61464428|906|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.5114|0.2564|0.5951|0.4464|0.7763|0.591||||||||||0.6079|0.3145|0.5899|0.6062|0.7361|0.4694|0.7727|0.7308|0.7635|0.6334|0.6107|0.7763|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||||||||||rs61464428|906|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.5114|0.2564|0.5951|0.4464|0.7763|0.591||||||||||0.6079|0.3145|0.5899|0.6062|0.7361|0.4694|0.7727|0.7308|0.7635|0.6334|0.6107|0.7763|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000105|promoter||||||||||rs61464428||||SNV||||||||||||||||||||0.5114|0.2564|0.5951|0.4464|0.7763|0.591||||||||||0.6079|0.3145|0.5899|0.6062|0.7361|0.4694|0.7727|0.7308|0.7635|0.6334|0.6107|0.7763|EUR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,3:0.6:5:0,0:1,1:1,2:1,1,1,2 -chr1 925036 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=3;GERMQ=50;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=51;POPAF=7.3;TLOD=10.65;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||||||||||rs61464428|695|1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.5114|0.2564|0.5951|0.4464|0.7763|0.591||||||||||0.6079|0.3145|0.5899|0.6062|0.7361|0.4694|0.7727|0.7308|0.7635|0.6334|0.6107|0.7763|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||||||||||rs61464428|114|1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.5114|0.2564|0.5951|0.4464|0.7763|0.591||||||||||0.6079|0.3145|0.5899|0.6062|0.7361|0.4694|0.7727|0.7308|0.7635|0.6334|0.6107|0.7763|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,A|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs61464428|4020|-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.5114|0.2564|0.5951|0.4464|0.7763|0.591||||||||||0.6079|0.3145|0.5899|0.6062|0.7361|0.4694|0.7727|0.7308|0.7635|0.6334|0.6107|0.7763|EUR|||||||||||||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||1/13|ENST00000616016.5:c.517+88G>A|||||||rs61464428||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.5114|0.2564|0.5951|0.4464|0.7763|0.591||||||||||0.6079|0.3145|0.5899|0.6062|0.7361|0.4694|0.7727|0.7308|0.7635|0.6334|0.6107|0.7763|EUR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||||||||||rs61464428|906|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.5114|0.2564|0.5951|0.4464|0.7763|0.591||||||||||0.6079|0.3145|0.5899|0.6062|0.7361|0.4694|0.7727|0.7308|0.7635|0.6334|0.6107|0.7763|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||||||||||rs61464428|906|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.5114|0.2564|0.5951|0.4464|0.7763|0.591||||||||||0.6079|0.3145|0.5899|0.6062|0.7361|0.4694|0.7727|0.7308|0.7635|0.6334|0.6107|0.7763|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||||||||||rs61464428|906|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.5114|0.2564|0.5951|0.4464|0.7763|0.591||||||||||0.6079|0.3145|0.5899|0.6062|0.7361|0.4694|0.7727|0.7308|0.7635|0.6334|0.6107|0.7763|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||1/13|ENST00000618323.5:c.517+88G>A|||||||rs61464428||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.5114|0.2564|0.5951|0.4464|0.7763|0.591||||||||||0.6079|0.3145|0.5899|0.6062|0.7361|0.4694|0.7727|0.7308|0.7635|0.6334|0.6107|0.7763|EUR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||||||||||rs61464428|906|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.5114|0.2564|0.5951|0.4464|0.7763|0.591||||||||||0.6079|0.3145|0.5899|0.6062|0.7361|0.4694|0.7727|0.7308|0.7635|0.6334|0.6107|0.7763|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||||||||||rs61464428|906|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.5114|0.2564|0.5951|0.4464|0.7763|0.591||||||||||0.6079|0.3145|0.5899|0.6062|0.7361|0.4694|0.7727|0.7308|0.7635|0.6334|0.6107|0.7763|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000105|promoter||||||||||rs61464428||||SNV||||||||||||||||||||0.5114|0.2564|0.5951|0.4464|0.7763|0.591||||||||||0.6079|0.3145|0.5899|0.6062|0.7361|0.4694|0.7727|0.7308|0.7635|0.6334|0.6107|0.7763|EUR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,1:0,1:0,2:0,0,1,2 -chr1 925081 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=2;GERMQ=49;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=98;POPAF=7.3;TLOD=10.15;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||||||||||rs57465118|650|1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.6823|0.3404|0.83|0.5526|0.9742|0.8732||||||||||0.7828|0.4037|0.9693|0.8224|0.9571|0.564|0.9565|0.9146|0.9735|0.8169|0.8784|0.9742|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||||||||||rs57465118|69|1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.6823|0.3404|0.83|0.5526|0.9742|0.8732||||||||||0.7828|0.4037|0.9693|0.8224|0.9571|0.564|0.9565|0.9146|0.9735|0.8169|0.8784|0.9742|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,A|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs57465118|4065|-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.6823|0.3404|0.83|0.5526|0.9742|0.8732||||||||||0.7828|0.4037|0.9693|0.8224|0.9571|0.564|0.9565|0.9146|0.9735|0.8169|0.8784|0.9742|EUR|||||||||||||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||1/13|ENST00000616016.5:c.517+133G>A|||||||rs57465118||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.6823|0.3404|0.83|0.5526|0.9742|0.8732||||||||||0.7828|0.4037|0.9693|0.8224|0.9571|0.564|0.9565|0.9146|0.9735|0.8169|0.8784|0.9742|EUR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||||||||||rs57465118|861|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.6823|0.3404|0.83|0.5526|0.9742|0.8732||||||||||0.7828|0.4037|0.9693|0.8224|0.9571|0.564|0.9565|0.9146|0.9735|0.8169|0.8784|0.9742|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||||||||||rs57465118|861|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.6823|0.3404|0.83|0.5526|0.9742|0.8732||||||||||0.7828|0.4037|0.9693|0.8224|0.9571|0.564|0.9565|0.9146|0.9735|0.8169|0.8784|0.9742|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||||||||||rs57465118|861|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.6823|0.3404|0.83|0.5526|0.9742|0.8732||||||||||0.7828|0.4037|0.9693|0.8224|0.9571|0.564|0.9565|0.9146|0.9735|0.8169|0.8784|0.9742|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||1/13|ENST00000618323.5:c.517+133G>A|||||||rs57465118||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.6823|0.3404|0.83|0.5526|0.9742|0.8732||||||||||0.7828|0.4037|0.9693|0.8224|0.9571|0.564|0.9565|0.9146|0.9735|0.8169|0.8784|0.9742|EUR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||||||||||rs57465118|861|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.6823|0.3404|0.83|0.5526|0.9742|0.8732||||||||||0.7828|0.4037|0.9693|0.8224|0.9571|0.564|0.9565|0.9146|0.9735|0.8169|0.8784|0.9742|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||||||||||rs57465118|861|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.6823|0.3404|0.83|0.5526|0.9742|0.8732||||||||||0.7828|0.4037|0.9693|0.8224|0.9571|0.564|0.9565|0.9146|0.9735|0.8169|0.8784|0.9742|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000105|promoter||||||||||rs57465118||||SNV||||||||||||||||||||0.6823|0.3404|0.83|0.5526|0.9742|0.8732||||||||||0.7828|0.4037|0.9693|0.8224|0.9571|0.564|0.9565|0.9146|0.9735|0.8169|0.8784|0.9742|EUR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,0:0,1:0,2:0,0,1,2 -chr1 925081 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=3;GERMQ=50;MBQ=0,29;MFRL=0,0;MMQ=60,60;MPOS=96;POPAF=7.3;TLOD=9.95;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||||||||||rs57465118|650|1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.6823|0.3404|0.83|0.5526|0.9742|0.8732||||||||||0.7828|0.4037|0.9693|0.8224|0.9571|0.564|0.9565|0.9146|0.9735|0.8169|0.8784|0.9742|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||||||||||rs57465118|69|1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.6823|0.3404|0.83|0.5526|0.9742|0.8732||||||||||0.7828|0.4037|0.9693|0.8224|0.9571|0.564|0.9565|0.9146|0.9735|0.8169|0.8784|0.9742|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,A|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs57465118|4065|-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.6823|0.3404|0.83|0.5526|0.9742|0.8732||||||||||0.7828|0.4037|0.9693|0.8224|0.9571|0.564|0.9565|0.9146|0.9735|0.8169|0.8784|0.9742|EUR|||||||||||||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||1/13|ENST00000616016.5:c.517+133G>A|||||||rs57465118||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.6823|0.3404|0.83|0.5526|0.9742|0.8732||||||||||0.7828|0.4037|0.9693|0.8224|0.9571|0.564|0.9565|0.9146|0.9735|0.8169|0.8784|0.9742|EUR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||||||||||rs57465118|861|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.6823|0.3404|0.83|0.5526|0.9742|0.8732||||||||||0.7828|0.4037|0.9693|0.8224|0.9571|0.564|0.9565|0.9146|0.9735|0.8169|0.8784|0.9742|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||||||||||rs57465118|861|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.6823|0.3404|0.83|0.5526|0.9742|0.8732||||||||||0.7828|0.4037|0.9693|0.8224|0.9571|0.564|0.9565|0.9146|0.9735|0.8169|0.8784|0.9742|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||||||||||rs57465118|861|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.6823|0.3404|0.83|0.5526|0.9742|0.8732||||||||||0.7828|0.4037|0.9693|0.8224|0.9571|0.564|0.9565|0.9146|0.9735|0.8169|0.8784|0.9742|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||1/13|ENST00000618323.5:c.517+133G>A|||||||rs57465118||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.6823|0.3404|0.83|0.5526|0.9742|0.8732||||||||||0.7828|0.4037|0.9693|0.8224|0.9571|0.564|0.9565|0.9146|0.9735|0.8169|0.8784|0.9742|EUR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||||||||||rs57465118|861|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.6823|0.3404|0.83|0.5526|0.9742|0.8732||||||||||0.7828|0.4037|0.9693|0.8224|0.9571|0.564|0.9565|0.9146|0.9735|0.8169|0.8784|0.9742|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||||||||||rs57465118|861|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.6823|0.3404|0.83|0.5526|0.9742|0.8732||||||||||0.7828|0.4037|0.9693|0.8224|0.9571|0.564|0.9565|0.9146|0.9735|0.8169|0.8784|0.9742|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000105|promoter||||||||||rs57465118||||SNV||||||||||||||||||||0.6823|0.3404|0.83|0.5526|0.9742|0.8732||||||||||0.7828|0.4037|0.9693|0.8224|0.9571|0.564|0.9565|0.9146|0.9735|0.8169|0.8784|0.9742|EUR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,1:0,1:0,2:0,0,1,2 -chr1 925141 . C A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=3;GERMQ=47;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=132;POPAF=7.3;TLOD=6.78;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||||||||||rs57924093|590|1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.6795|0.3298|0.8314|0.5476|0.9751|0.8763||||||||||0.7827|0.4048|0.9693|0.8227|0.9571|0.5631|0.9567|0.9135|0.9734|0.8166|0.8775|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||||||||||rs57924093|9|1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.6795|0.3298|0.8314|0.5476|0.9751|0.8763||||||||||0.7827|0.4048|0.9693|0.8227|0.9571|0.5631|0.9567|0.9135|0.9734|0.8166|0.8775|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,A|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs57924093|4125|-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.6795|0.3298|0.8314|0.5476|0.9751|0.8763||||||||||0.7827|0.4048|0.9693|0.8227|0.9571|0.5631|0.9567|0.9135|0.9734|0.8166|0.8775|0.9751|EUR|||||||||||||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||1/13|ENST00000616016.5:c.517+193C>A|||||||rs57924093||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.6795|0.3298|0.8314|0.5476|0.9751|0.8763||||||||||0.7827|0.4048|0.9693|0.8227|0.9571|0.5631|0.9567|0.9135|0.9734|0.8166|0.8775|0.9751|EUR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||||||||||rs57924093|801|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.6795|0.3298|0.8314|0.5476|0.9751|0.8763||||||||||0.7827|0.4048|0.9693|0.8227|0.9571|0.5631|0.9567|0.9135|0.9734|0.8166|0.8775|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||||||||||rs57924093|801|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.6795|0.3298|0.8314|0.5476|0.9751|0.8763||||||||||0.7827|0.4048|0.9693|0.8227|0.9571|0.5631|0.9567|0.9135|0.9734|0.8166|0.8775|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||||||||||rs57924093|801|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.6795|0.3298|0.8314|0.5476|0.9751|0.8763||||||||||0.7827|0.4048|0.9693|0.8227|0.9571|0.5631|0.9567|0.9135|0.9734|0.8166|0.8775|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||1/13|ENST00000618323.5:c.517+193C>A|||||||rs57924093||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.6795|0.3298|0.8314|0.5476|0.9751|0.8763||||||||||0.7827|0.4048|0.9693|0.8227|0.9571|0.5631|0.9567|0.9135|0.9734|0.8166|0.8775|0.9751|EUR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||||||||||rs57924093|801|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.6795|0.3298|0.8314|0.5476|0.9751|0.8763||||||||||0.7827|0.4048|0.9693|0.8227|0.9571|0.5631|0.9567|0.9135|0.9734|0.8166|0.8775|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||||||||||rs57924093|801|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.6795|0.3298|0.8314|0.5476|0.9751|0.8763||||||||||0.7827|0.4048|0.9693|0.8227|0.9571|0.5631|0.9567|0.9135|0.9734|0.8166|0.8775|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000105|promoter||||||||||rs57924093||||SNV||||||||||||||||||||0.6795|0.3298|0.8314|0.5476|0.9751|0.8763||||||||||0.7827|0.4048|0.9693|0.8227|0.9571|0.5631|0.9567|0.9135|0.9734|0.8166|0.8775|0.9751|EUR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.75:2:0,0:0,1:0,2:0,0,1,1 -chr1 925455 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C0;DP=3;ECNT=2;GERMQ=39;MBQ=31,34;MFRL=0,0;MMQ=60,60;MPOS=130;POPAF=7.3;TLOD=3.1;SRC=custom;GRP=custom;CSQ=C|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||||||||||rs1433100649|4857|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1|||||||||||||||||||||5.934e-05|0|0|0.0005914|0|0|0|0|0|0|0|0.0005914|gnomADg_AMR|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||||||||||rs1433100649|276|1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1|||||||||||||||||||||5.934e-05|0|0|0.0005914|0|0|0|0|0|0|0|0.0005914|gnomADg_AMR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||1/4|ENST00000437963.5:c.-21+266T>C|||||||rs1433100649||1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1|||||||||||||||||||||5.934e-05|0|0|0.0005914|0|0|0|0|0|0|0|0.0005914|gnomADg_AMR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,C|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs1433100649|4439|-1||SNV|HGNC|HGNC:53933|||||||||||||||||||||||||||||||||5.934e-05|0|0|0.0005914|0|0|0|0|0|0|0|0.0005914|gnomADg_AMR|||||||||||||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||1/13|ENST00000616016.5:c.518-467T>C|||||||rs1433100649||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1|||||||||||||||||||||5.934e-05|0|0|0.0005914|0|0|0|0|0|0|0|0.0005914|gnomADg_AMR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||||||||||rs1433100649|487|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1|||||||||||||||||||||5.934e-05|0|0|0.0005914|0|0|0|0|0|0|0|0.0005914|gnomADg_AMR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||||||||||rs1433100649|487|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1|||||||||||||||||||||5.934e-05|0|0|0.0005914|0|0|0|0|0|0|0|0.0005914|gnomADg_AMR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||||||||||rs1433100649|487|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1|||||||||||||||||||||5.934e-05|0|0|0.0005914|0|0|0|0|0|0|0|0.0005914|gnomADg_AMR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||1/13|ENST00000618323.5:c.518-467T>C|||||||rs1433100649||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1|||||||||||||||||||||5.934e-05|0|0|0.0005914|0|0|0|0|0|0|0|0.0005914|gnomADg_AMR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||||||||||rs1433100649|487|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1|||||||||||||||||||||5.934e-05|0|0|0.0005914|0|0|0|0|0|0|0|0.0005914|gnomADg_AMR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||||||||||rs1433100649|487|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1|||||||||||||||||||||5.934e-05|0|0|0.0005914|0|0|0|0|0|0|0|0.0005914|gnomADg_AMR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000105|promoter||||||||||rs1433100649||||SNV|||||||||||||||||||||||||||||||||||5.934e-05|0|0|0.0005914|0|0|0|0|0|0|0|0.0005914|gnomADg_AMR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:2,1:0.5:3:0,0:1,1:1,1:0|1:925455_T_C:925455:1,1,1,0 -chr1 925474 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C1;DP=4;ECNT=2;GERMQ=50;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=62;POPAF=7.3;TLOD=11.68;SRC=custom;GRP=custom;CSQ=C|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||||||||||rs57816555|4838|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.8888|0.9002|0.9841|0.6944|0.9871|0.9049||||||||||0.9482|0.9101|0.9693|0.9759|0.9772|0.6868|0.9636|0.9618|0.9831|0.9531|0.9098|0.9871|EUR|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||||||||||rs57816555|257|1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.8888|0.9002|0.9841|0.6944|0.9871|0.9049||||||||||0.9482|0.9101|0.9693|0.9759|0.9772|0.6868|0.9636|0.9618|0.9831|0.9531|0.9098|0.9871|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||1/4|ENST00000437963.5:c.-21+285T>C|||||||rs57816555||1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.8888|0.9002|0.9841|0.6944|0.9871|0.9049||||||||||0.9482|0.9101|0.9693|0.9759|0.9772|0.6868|0.9636|0.9618|0.9831|0.9531|0.9098|0.9871|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,C|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs57816555|4458|-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.8888|0.9002|0.9841|0.6944|0.9871|0.9049||||||||||0.9482|0.9101|0.9693|0.9759|0.9772|0.6868|0.9636|0.9618|0.9831|0.9531|0.9098|0.9871|EUR|||||||||||||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||1/13|ENST00000616016.5:c.518-448T>C|||||||rs57816555||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.8888|0.9002|0.9841|0.6944|0.9871|0.9049||||||||||0.9482|0.9101|0.9693|0.9759|0.9772|0.6868|0.9636|0.9618|0.9831|0.9531|0.9098|0.9871|EUR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||||||||||rs57816555|468|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.8888|0.9002|0.9841|0.6944|0.9871|0.9049||||||||||0.9482|0.9101|0.9693|0.9759|0.9772|0.6868|0.9636|0.9618|0.9831|0.9531|0.9098|0.9871|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||||||||||rs57816555|468|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.8888|0.9002|0.9841|0.6944|0.9871|0.9049||||||||||0.9482|0.9101|0.9693|0.9759|0.9772|0.6868|0.9636|0.9618|0.9831|0.9531|0.9098|0.9871|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||||||||||rs57816555|468|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.8888|0.9002|0.9841|0.6944|0.9871|0.9049||||||||||0.9482|0.9101|0.9693|0.9759|0.9772|0.6868|0.9636|0.9618|0.9831|0.9531|0.9098|0.9871|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||1/13|ENST00000618323.5:c.518-448T>C|||||||rs57816555||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.8888|0.9002|0.9841|0.6944|0.9871|0.9049||||||||||0.9482|0.9101|0.9693|0.9759|0.9772|0.6868|0.9636|0.9618|0.9831|0.9531|0.9098|0.9871|EUR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||||||||||rs57816555|468|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.8888|0.9002|0.9841|0.6944|0.9871|0.9049||||||||||0.9482|0.9101|0.9693|0.9759|0.9772|0.6868|0.9636|0.9618|0.9831|0.9531|0.9098|0.9871|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||||||||||rs57816555|468|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.8888|0.9002|0.9841|0.6944|0.9871|0.9049||||||||||0.9482|0.9101|0.9693|0.9759|0.9772|0.6868|0.9636|0.9618|0.9831|0.9531|0.9098|0.9871|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000105|promoter||||||||||rs57816555||||SNV||||||||||||||||||||0.8888|0.9002|0.9841|0.6944|0.9871|0.9049||||||||||0.9482|0.9101|0.9693|0.9759|0.9772|0.6868|0.9636|0.9618|0.9831|0.9531|0.9098|0.9871|EUR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.75:3:0,0:0,2:0,2:0|1:925455_T_C:925455:0,0,2,1 -chr1 925628 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=1;GERMQ=52;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=100;POPAF=7.3;TLOD=15.23;SRC=custom;GRP=custom;CSQ=C|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||||||||||rs28521172|4684|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.6873|0.354|0.8401|0.5476|0.9751|0.8773||||||||||0.791|0.4321|0.9693|0.8273|0.9577|0.5654|0.9566|0.9135|0.9735|0.8246|0.8785|0.9751|EUR|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||||||||||rs28521172|103|1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.6873|0.354|0.8401|0.5476|0.9751|0.8773||||||||||0.791|0.4321|0.9693|0.8273|0.9577|0.5654|0.9566|0.9135|0.9735|0.8246|0.8785|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||1/4|ENST00000437963.5:c.-20-294G>C|||||||rs28521172||1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.6873|0.354|0.8401|0.5476|0.9751|0.8773||||||||||0.791|0.4321|0.9693|0.8273|0.9577|0.5654|0.9566|0.9135|0.9735|0.8246|0.8785|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,C|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs28521172|4612|-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.6873|0.354|0.8401|0.5476|0.9751|0.8773||||||||||0.791|0.4321|0.9693|0.8273|0.9577|0.5654|0.9566|0.9135|0.9735|0.8246|0.8785|0.9751|EUR|||||||||||||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||1/13|ENST00000616016.5:c.518-294G>C|||||||rs28521172||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.6873|0.354|0.8401|0.5476|0.9751|0.8773||||||||||0.791|0.4321|0.9693|0.8273|0.9577|0.5654|0.9566|0.9135|0.9735|0.8246|0.8785|0.9751|EUR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||||||||||rs28521172|314|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.6873|0.354|0.8401|0.5476|0.9751|0.8773||||||||||0.791|0.4321|0.9693|0.8273|0.9577|0.5654|0.9566|0.9135|0.9735|0.8246|0.8785|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||||||||||rs28521172|314|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.6873|0.354|0.8401|0.5476|0.9751|0.8773||||||||||0.791|0.4321|0.9693|0.8273|0.9577|0.5654|0.9566|0.9135|0.9735|0.8246|0.8785|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||||||||||rs28521172|314|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.6873|0.354|0.8401|0.5476|0.9751|0.8773||||||||||0.791|0.4321|0.9693|0.8273|0.9577|0.5654|0.9566|0.9135|0.9735|0.8246|0.8785|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||1/13|ENST00000618323.5:c.518-294G>C|||||||rs28521172||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.6873|0.354|0.8401|0.5476|0.9751|0.8773||||||||||0.791|0.4321|0.9693|0.8273|0.9577|0.5654|0.9566|0.9135|0.9735|0.8246|0.8785|0.9751|EUR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||||||||||rs28521172|314|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.6873|0.354|0.8401|0.5476|0.9751|0.8773||||||||||0.791|0.4321|0.9693|0.8273|0.9577|0.5654|0.9566|0.9135|0.9735|0.8246|0.8785|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||||||||||rs28521172|314|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.6873|0.354|0.8401|0.5476|0.9751|0.8773||||||||||0.791|0.4321|0.9693|0.8273|0.9577|0.5654|0.9566|0.9135|0.9735|0.8246|0.8785|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000105|promoter||||||||||rs28521172||||SNV||||||||||||||||||||0.6873|0.354|0.8401|0.5476|0.9751|0.8773||||||||||0.791|0.4321|0.9693|0.8273|0.9577|0.5654|0.9566|0.9135|0.9735|0.8246|0.8785|0.9751|EUR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 926250 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C0|3%2C3;DP=7;ECNT=1;GERMQ=43;MBQ=28,33;MFRL=0,0;MMQ=60,60;MPOS=53;POPAF=7.3;TLOD=20.96;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||||||||||rs2879816|4062|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.5058|0.2352|0.5937|0.4464|0.7773|0.591||||||||||0.6014|0.2943|0.5738|0.6037|0.7297|0.4701|0.7732|0.7215|0.7628|0.6293|0.611|0.7773|EUR|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||2/13|ENST00000342066.8:c.72+237G>A|||||||rs2879816||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.5058|0.2352|0.5937|0.4464|0.7773|0.591||||||||||0.6014|0.2943|0.5738|0.6037|0.7297|0.4701|0.7732|0.7215|0.7628|0.6293|0.611|0.7773|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||2/4|ENST00000437963.5:c.72+237G>A|||||||rs2879816||1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.5058|0.2352|0.5937|0.4464|0.7773|0.591||||||||||0.6014|0.2943|0.5738|0.6037|0.7297|0.4701|0.7732|0.7215|0.7628|0.6293|0.611|0.7773|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||2/13|ENST00000616016.5:c.609+237G>A|||||||rs2879816||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.5058|0.2352|0.5937|0.4464|0.7773|0.591||||||||||0.6014|0.2943|0.5738|0.6037|0.7297|0.4701|0.7732|0.7215|0.7628|0.6293|0.611|0.7773|EUR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||1/10|ENST00000616125.5:c.72+237G>A|||||||rs2879816||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.5058|0.2352|0.5937|0.4464|0.7773|0.591||||||||||0.6014|0.2943|0.5738|0.6037|0.7297|0.4701|0.7732|0.7215|0.7628|0.6293|0.611|0.7773|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||1/12|ENST00000617307.5:c.72+237G>A|||||||rs2879816||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.5058|0.2352|0.5937|0.4464|0.7773|0.591||||||||||0.6014|0.2943|0.5738|0.6037|0.7297|0.4701|0.7732|0.7215|0.7628|0.6293|0.611|0.7773|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||1/9|ENST00000618181.5:c.72+237G>A|||||||rs2879816||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.5058|0.2352|0.5937|0.4464|0.7773|0.591||||||||||0.6014|0.2943|0.5738|0.6037|0.7297|0.4701|0.7732|0.7215|0.7628|0.6293|0.611|0.7773|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||2/13|ENST00000618323.5:c.609+237G>A|||||||rs2879816||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.5058|0.2352|0.5937|0.4464|0.7773|0.591||||||||||0.6014|0.2943|0.5738|0.6037|0.7297|0.4701|0.7732|0.7215|0.7628|0.6293|0.611|0.7773|EUR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||1/11|ENST00000618779.5:c.72+237G>A|||||||rs2879816||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.5058|0.2352|0.5937|0.4464|0.7773|0.591||||||||||0.6014|0.2943|0.5738|0.6037|0.7297|0.4701|0.7732|0.7215|0.7628|0.6293|0.611|0.7773|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||1/12|ENST00000622503.5:c.72+237G>A|||||||rs2879816||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.5058|0.2352|0.5937|0.4464|0.7773|0.591||||||||||0.6014|0.2943|0.5738|0.6037|0.7297|0.4701|0.7732|0.7215|0.7628|0.6293|0.611|0.7773|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,6:0.667:7:0,0:1,3:1,3:1,0,3,3 -chr1 926250 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C1;DP=4;ECNT=1;GERMQ=37;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=62;POPAF=7.3;TLOD=6.78;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||||||||||rs2879816|4062|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.5058|0.2352|0.5937|0.4464|0.7773|0.591||||||||||0.6014|0.2943|0.5738|0.6037|0.7297|0.4701|0.7732|0.7215|0.7628|0.6293|0.611|0.7773|EUR|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||2/13|ENST00000342066.8:c.72+237G>A|||||||rs2879816||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.5058|0.2352|0.5937|0.4464|0.7773|0.591||||||||||0.6014|0.2943|0.5738|0.6037|0.7297|0.4701|0.7732|0.7215|0.7628|0.6293|0.611|0.7773|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||2/4|ENST00000437963.5:c.72+237G>A|||||||rs2879816||1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.5058|0.2352|0.5937|0.4464|0.7773|0.591||||||||||0.6014|0.2943|0.5738|0.6037|0.7297|0.4701|0.7732|0.7215|0.7628|0.6293|0.611|0.7773|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||2/13|ENST00000616016.5:c.609+237G>A|||||||rs2879816||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.5058|0.2352|0.5937|0.4464|0.7773|0.591||||||||||0.6014|0.2943|0.5738|0.6037|0.7297|0.4701|0.7732|0.7215|0.7628|0.6293|0.611|0.7773|EUR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||1/10|ENST00000616125.5:c.72+237G>A|||||||rs2879816||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.5058|0.2352|0.5937|0.4464|0.7773|0.591||||||||||0.6014|0.2943|0.5738|0.6037|0.7297|0.4701|0.7732|0.7215|0.7628|0.6293|0.611|0.7773|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||1/12|ENST00000617307.5:c.72+237G>A|||||||rs2879816||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.5058|0.2352|0.5937|0.4464|0.7773|0.591||||||||||0.6014|0.2943|0.5738|0.6037|0.7297|0.4701|0.7732|0.7215|0.7628|0.6293|0.611|0.7773|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||1/9|ENST00000618181.5:c.72+237G>A|||||||rs2879816||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.5058|0.2352|0.5937|0.4464|0.7773|0.591||||||||||0.6014|0.2943|0.5738|0.6037|0.7297|0.4701|0.7732|0.7215|0.7628|0.6293|0.611|0.7773|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||2/13|ENST00000618323.5:c.609+237G>A|||||||rs2879816||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.5058|0.2352|0.5937|0.4464|0.7773|0.591||||||||||0.6014|0.2943|0.5738|0.6037|0.7297|0.4701|0.7732|0.7215|0.7628|0.6293|0.611|0.7773|EUR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||1/11|ENST00000618779.5:c.72+237G>A|||||||rs2879816||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.5058|0.2352|0.5937|0.4464|0.7773|0.591||||||||||0.6014|0.2943|0.5738|0.6037|0.7297|0.4701|0.7732|0.7215|0.7628|0.6293|0.611|0.7773|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||1/12|ENST00000622503.5:c.72+237G>A|||||||rs2879816||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.5058|0.2352|0.5937|0.4464|0.7773|0.591||||||||||0.6014|0.2943|0.5738|0.6037|0.7297|0.4701|0.7732|0.7215|0.7628|0.6293|0.611|0.7773|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.5:4:0,0:1,1:1,1:1,1,1,1 -chr1 926428 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C5;DP=10;ECNT=1;GERMQ=63;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=81;POPAF=7.3;TLOD=29.28;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||||||||||rs13302982|3884|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.6823|0.3419|0.8285|0.5476|0.9751|0.8763||||||||||0.788|0.4231|0.9693|0.8243|0.9571|0.563|0.9564|0.9146|0.9734|0.8201|0.8787|0.9751|EUR|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||2/13|ENST00000342066.8:c.72+415A>G|||||||rs13302982||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.6823|0.3419|0.8285|0.5476|0.9751|0.8763||||||||||0.788|0.4231|0.9693|0.8243|0.9571|0.563|0.9564|0.9146|0.9734|0.8201|0.8787|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||2/4|ENST00000437963.5:c.72+415A>G|||||||rs13302982||1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.6823|0.3419|0.8285|0.5476|0.9751|0.8763||||||||||0.788|0.4231|0.9693|0.8243|0.9571|0.563|0.9564|0.9146|0.9734|0.8201|0.8787|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||2/13|ENST00000616016.5:c.609+415A>G|||||||rs13302982||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.6823|0.3419|0.8285|0.5476|0.9751|0.8763||||||||||0.788|0.4231|0.9693|0.8243|0.9571|0.563|0.9564|0.9146|0.9734|0.8201|0.8787|0.9751|EUR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||1/10|ENST00000616125.5:c.72+415A>G|||||||rs13302982||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.6823|0.3419|0.8285|0.5476|0.9751|0.8763||||||||||0.788|0.4231|0.9693|0.8243|0.9571|0.563|0.9564|0.9146|0.9734|0.8201|0.8787|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||1/12|ENST00000617307.5:c.72+415A>G|||||||rs13302982||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.6823|0.3419|0.8285|0.5476|0.9751|0.8763||||||||||0.788|0.4231|0.9693|0.8243|0.9571|0.563|0.9564|0.9146|0.9734|0.8201|0.8787|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||1/9|ENST00000618181.5:c.72+415A>G|||||||rs13302982||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.6823|0.3419|0.8285|0.5476|0.9751|0.8763||||||||||0.788|0.4231|0.9693|0.8243|0.9571|0.563|0.9564|0.9146|0.9734|0.8201|0.8787|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||2/13|ENST00000618323.5:c.609+415A>G|||||||rs13302982||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.6823|0.3419|0.8285|0.5476|0.9751|0.8763||||||||||0.788|0.4231|0.9693|0.8243|0.9571|0.563|0.9564|0.9146|0.9734|0.8201|0.8787|0.9751|EUR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||1/11|ENST00000618779.5:c.72+415A>G|||||||rs13302982||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.6823|0.3419|0.8285|0.5476|0.9751|0.8763||||||||||0.788|0.4231|0.9693|0.8243|0.9571|0.563|0.9564|0.9146|0.9734|0.8201|0.8787|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||1/12|ENST00000622503.5:c.72+415A>G|||||||rs13302982||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.6823|0.3419|0.8285|0.5476|0.9751|0.8763||||||||||0.788|0.4231|0.9693|0.8243|0.9571|0.563|0.9564|0.9146|0.9734|0.8201|0.8787|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344423|promoter||||||||||rs13302982||||SNV||||||||||||||||||||0.6823|0.3419|0.8285|0.5476|0.9751|0.8763||||||||||0.788|0.4231|0.9693|0.8243|0.9571|0.563|0.9564|0.9146|0.9734|0.8201|0.8787|0.9751|EUR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.864:8:0,0:0,3:0,5:0,0,3,5 -chr1 926428 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=44;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=25;POPAF=7.3;TLOD=3.31;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||||||||||rs13302982|3884|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.6823|0.3419|0.8285|0.5476|0.9751|0.8763||||||||||0.788|0.4231|0.9693|0.8243|0.9571|0.563|0.9564|0.9146|0.9734|0.8201|0.8787|0.9751|EUR|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||2/13|ENST00000342066.8:c.72+415A>G|||||||rs13302982||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.6823|0.3419|0.8285|0.5476|0.9751|0.8763||||||||||0.788|0.4231|0.9693|0.8243|0.9571|0.563|0.9564|0.9146|0.9734|0.8201|0.8787|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||2/4|ENST00000437963.5:c.72+415A>G|||||||rs13302982||1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.6823|0.3419|0.8285|0.5476|0.9751|0.8763||||||||||0.788|0.4231|0.9693|0.8243|0.9571|0.563|0.9564|0.9146|0.9734|0.8201|0.8787|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||2/13|ENST00000616016.5:c.609+415A>G|||||||rs13302982||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.6823|0.3419|0.8285|0.5476|0.9751|0.8763||||||||||0.788|0.4231|0.9693|0.8243|0.9571|0.563|0.9564|0.9146|0.9734|0.8201|0.8787|0.9751|EUR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||1/10|ENST00000616125.5:c.72+415A>G|||||||rs13302982||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.6823|0.3419|0.8285|0.5476|0.9751|0.8763||||||||||0.788|0.4231|0.9693|0.8243|0.9571|0.563|0.9564|0.9146|0.9734|0.8201|0.8787|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||1/12|ENST00000617307.5:c.72+415A>G|||||||rs13302982||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.6823|0.3419|0.8285|0.5476|0.9751|0.8763||||||||||0.788|0.4231|0.9693|0.8243|0.9571|0.563|0.9564|0.9146|0.9734|0.8201|0.8787|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||1/9|ENST00000618181.5:c.72+415A>G|||||||rs13302982||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.6823|0.3419|0.8285|0.5476|0.9751|0.8763||||||||||0.788|0.4231|0.9693|0.8243|0.9571|0.563|0.9564|0.9146|0.9734|0.8201|0.8787|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||2/13|ENST00000618323.5:c.609+415A>G|||||||rs13302982||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.6823|0.3419|0.8285|0.5476|0.9751|0.8763||||||||||0.788|0.4231|0.9693|0.8243|0.9571|0.563|0.9564|0.9146|0.9734|0.8201|0.8787|0.9751|EUR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||1/11|ENST00000618779.5:c.72+415A>G|||||||rs13302982||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.6823|0.3419|0.8285|0.5476|0.9751|0.8763||||||||||0.788|0.4231|0.9693|0.8243|0.9571|0.563|0.9564|0.9146|0.9734|0.8201|0.8787|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||1/12|ENST00000622503.5:c.72+415A>G|||||||rs13302982||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.6823|0.3419|0.8285|0.5476|0.9751|0.8763||||||||||0.788|0.4231|0.9693|0.8243|0.9571|0.563|0.9564|0.9146|0.9734|0.8201|0.8787|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344423|promoter||||||||||rs13302982||||SNV||||||||||||||||||||0.6823|0.3419|0.8285|0.5476|0.9751|0.8763||||||||||0.788|0.4231|0.9693|0.8243|0.9571|0.563|0.9564|0.9146|0.9734|0.8201|0.8787|0.9751|EUR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.684:1:0,0:0,1:0,1:0,0,1,0 -chr1 926713 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C1;DP=3;ECNT=2;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=81;POPAF=7.3;TLOD=10.95;SRC=custom;GRP=custom;CSQ=C|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||||||||||rs13303291|3599|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.6815|0.3396|0.8285|0.5486|0.9751|0.8742||||||||||0.7864|0.4174|0.9693|0.824|0.957|0.563|0.9563|0.9146|0.9734|0.8177|0.878|0.9751|EUR|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||2/13|ENST00000342066.8:c.72+700T>C|||||||rs13303291||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.6815|0.3396|0.8285|0.5486|0.9751|0.8742||||||||||0.7864|0.4174|0.9693|0.824|0.957|0.563|0.9563|0.9146|0.9734|0.8177|0.878|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||2/4|ENST00000437963.5:c.72+700T>C|||||||rs13303291||1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.6815|0.3396|0.8285|0.5486|0.9751|0.8742||||||||||0.7864|0.4174|0.9693|0.824|0.957|0.563|0.9563|0.9146|0.9734|0.8177|0.878|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||2/13|ENST00000616016.5:c.609+700T>C|||||||rs13303291||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.6815|0.3396|0.8285|0.5486|0.9751|0.8742||||||||||0.7864|0.4174|0.9693|0.824|0.957|0.563|0.9563|0.9146|0.9734|0.8177|0.878|0.9751|EUR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||1/10|ENST00000616125.5:c.72+700T>C|||||||rs13303291||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.6815|0.3396|0.8285|0.5486|0.9751|0.8742||||||||||0.7864|0.4174|0.9693|0.824|0.957|0.563|0.9563|0.9146|0.9734|0.8177|0.878|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||1/12|ENST00000617307.5:c.72+700T>C|||||||rs13303291||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.6815|0.3396|0.8285|0.5486|0.9751|0.8742||||||||||0.7864|0.4174|0.9693|0.824|0.957|0.563|0.9563|0.9146|0.9734|0.8177|0.878|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||1/9|ENST00000618181.5:c.72+700T>C|||||||rs13303291||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.6815|0.3396|0.8285|0.5486|0.9751|0.8742||||||||||0.7864|0.4174|0.9693|0.824|0.957|0.563|0.9563|0.9146|0.9734|0.8177|0.878|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||2/13|ENST00000618323.5:c.609+700T>C|||||||rs13303291||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.6815|0.3396|0.8285|0.5486|0.9751|0.8742||||||||||0.7864|0.4174|0.9693|0.824|0.957|0.563|0.9563|0.9146|0.9734|0.8177|0.878|0.9751|EUR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||1/11|ENST00000618779.5:c.72+700T>C|||||||rs13303291||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.6815|0.3396|0.8285|0.5486|0.9751|0.8742||||||||||0.7864|0.4174|0.9693|0.824|0.957|0.563|0.9563|0.9146|0.9734|0.8177|0.878|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||1/12|ENST00000622503.5:c.72+700T>C|||||||rs13303291||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.6815|0.3396|0.8285|0.5486|0.9751|0.8742||||||||||0.7864|0.4174|0.9693|0.824|0.957|0.563|0.9563|0.9146|0.9734|0.8177|0.878|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344423|promoter||||||||||rs13303291||||SNV||||||||||||||||||||0.6815|0.3396|0.8285|0.5486|0.9751|0.8742||||||||||0.7864|0.4174|0.9693|0.824|0.957|0.563|0.9563|0.9146|0.9734|0.8177|0.878|0.9751|EUR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,0:0,2:0,2:0,0,2,1 -chr1 926713 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C3;DP=5;ECNT=2;GERMQ=55;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=109;POPAF=7.3;TLOD=18.15;SRC=custom;GRP=custom;CSQ=C|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||||||||||rs13303291|3599|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.6815|0.3396|0.8285|0.5486|0.9751|0.8742||||||||||0.7864|0.4174|0.9693|0.824|0.957|0.563|0.9563|0.9146|0.9734|0.8177|0.878|0.9751|EUR|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||2/13|ENST00000342066.8:c.72+700T>C|||||||rs13303291||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.6815|0.3396|0.8285|0.5486|0.9751|0.8742||||||||||0.7864|0.4174|0.9693|0.824|0.957|0.563|0.9563|0.9146|0.9734|0.8177|0.878|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||2/4|ENST00000437963.5:c.72+700T>C|||||||rs13303291||1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.6815|0.3396|0.8285|0.5486|0.9751|0.8742||||||||||0.7864|0.4174|0.9693|0.824|0.957|0.563|0.9563|0.9146|0.9734|0.8177|0.878|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||2/13|ENST00000616016.5:c.609+700T>C|||||||rs13303291||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.6815|0.3396|0.8285|0.5486|0.9751|0.8742||||||||||0.7864|0.4174|0.9693|0.824|0.957|0.563|0.9563|0.9146|0.9734|0.8177|0.878|0.9751|EUR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||1/10|ENST00000616125.5:c.72+700T>C|||||||rs13303291||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.6815|0.3396|0.8285|0.5486|0.9751|0.8742||||||||||0.7864|0.4174|0.9693|0.824|0.957|0.563|0.9563|0.9146|0.9734|0.8177|0.878|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||1/12|ENST00000617307.5:c.72+700T>C|||||||rs13303291||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.6815|0.3396|0.8285|0.5486|0.9751|0.8742||||||||||0.7864|0.4174|0.9693|0.824|0.957|0.563|0.9563|0.9146|0.9734|0.8177|0.878|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||1/9|ENST00000618181.5:c.72+700T>C|||||||rs13303291||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.6815|0.3396|0.8285|0.5486|0.9751|0.8742||||||||||0.7864|0.4174|0.9693|0.824|0.957|0.563|0.9563|0.9146|0.9734|0.8177|0.878|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||2/13|ENST00000618323.5:c.609+700T>C|||||||rs13303291||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.6815|0.3396|0.8285|0.5486|0.9751|0.8742||||||||||0.7864|0.4174|0.9693|0.824|0.957|0.563|0.9563|0.9146|0.9734|0.8177|0.878|0.9751|EUR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||1/11|ENST00000618779.5:c.72+700T>C|||||||rs13303291||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.6815|0.3396|0.8285|0.5486|0.9751|0.8742||||||||||0.7864|0.4174|0.9693|0.824|0.957|0.563|0.9563|0.9146|0.9734|0.8177|0.878|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||1/12|ENST00000622503.5:c.72+700T>C|||||||rs13303291||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.6815|0.3396|0.8285|0.5486|0.9751|0.8742||||||||||0.7864|0.4174|0.9693|0.824|0.957|0.563|0.9563|0.9146|0.9734|0.8177|0.878|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344423|promoter||||||||||rs13303291||||SNV||||||||||||||||||||0.6815|0.3396|0.8285|0.5486|0.9751|0.8742||||||||||0.7864|0.4174|0.9693|0.824|0.957|0.563|0.9563|0.9146|0.9734|0.8177|0.878|0.9751|EUR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.8:5:0,0:0,2:0,3:0,0,2,3 -chr1 926744 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=4;ECNT=2;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=57;POPAF=7.3;TLOD=7.08;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||||||||||rs13303101|3568|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.6827|0.3442|0.8285|0.5496|0.9751|0.8732||||||||||0.788|0.4231|0.9693|0.8243|0.9571|0.5629|0.9564|0.9146|0.9734|0.8195|0.8785|0.9751|EUR|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||2/13|ENST00000342066.8:c.72+731A>G|||||||rs13303101||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.6827|0.3442|0.8285|0.5496|0.9751|0.8732||||||||||0.788|0.4231|0.9693|0.8243|0.9571|0.5629|0.9564|0.9146|0.9734|0.8195|0.8785|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||2/4|ENST00000437963.5:c.72+731A>G|||||||rs13303101||1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.6827|0.3442|0.8285|0.5496|0.9751|0.8732||||||||||0.788|0.4231|0.9693|0.8243|0.9571|0.5629|0.9564|0.9146|0.9734|0.8195|0.8785|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||2/13|ENST00000616016.5:c.609+731A>G|||||||rs13303101||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.6827|0.3442|0.8285|0.5496|0.9751|0.8732||||||||||0.788|0.4231|0.9693|0.8243|0.9571|0.5629|0.9564|0.9146|0.9734|0.8195|0.8785|0.9751|EUR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||1/10|ENST00000616125.5:c.72+731A>G|||||||rs13303101||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.6827|0.3442|0.8285|0.5496|0.9751|0.8732||||||||||0.788|0.4231|0.9693|0.8243|0.9571|0.5629|0.9564|0.9146|0.9734|0.8195|0.8785|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||1/12|ENST00000617307.5:c.72+731A>G|||||||rs13303101||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.6827|0.3442|0.8285|0.5496|0.9751|0.8732||||||||||0.788|0.4231|0.9693|0.8243|0.9571|0.5629|0.9564|0.9146|0.9734|0.8195|0.8785|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||1/9|ENST00000618181.5:c.72+731A>G|||||||rs13303101||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.6827|0.3442|0.8285|0.5496|0.9751|0.8732||||||||||0.788|0.4231|0.9693|0.8243|0.9571|0.5629|0.9564|0.9146|0.9734|0.8195|0.8785|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||2/13|ENST00000618323.5:c.609+731A>G|||||||rs13303101||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.6827|0.3442|0.8285|0.5496|0.9751|0.8732||||||||||0.788|0.4231|0.9693|0.8243|0.9571|0.5629|0.9564|0.9146|0.9734|0.8195|0.8785|0.9751|EUR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||1/11|ENST00000618779.5:c.72+731A>G|||||||rs13303101||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.6827|0.3442|0.8285|0.5496|0.9751|0.8732||||||||||0.788|0.4231|0.9693|0.8243|0.9571|0.5629|0.9564|0.9146|0.9734|0.8195|0.8785|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||1/12|ENST00000622503.5:c.72+731A>G|||||||rs13303101||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.6827|0.3442|0.8285|0.5496|0.9751|0.8732||||||||||0.788|0.4231|0.9693|0.8243|0.9571|0.5629|0.9564|0.9146|0.9734|0.8195|0.8785|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344423|promoter||||||||||rs13303101||||SNV||||||||||||||||||||0.6827|0.3442|0.8285|0.5496|0.9751|0.8732||||||||||0.788|0.4231|0.9693|0.8243|0.9571|0.5629|0.9564|0.9146|0.9734|0.8195|0.8785|0.9751|EUR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.684:2:0,0:0,1:0,1:0,0,1,1 -chr1 926744 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=2;GERMQ=50;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=80;POPAF=7.3;TLOD=10.12;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||||||||||rs13303101|3568|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.6827|0.3442|0.8285|0.5496|0.9751|0.8732||||||||||0.788|0.4231|0.9693|0.8243|0.9571|0.5629|0.9564|0.9146|0.9734|0.8195|0.8785|0.9751|EUR|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||2/13|ENST00000342066.8:c.72+731A>G|||||||rs13303101||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.6827|0.3442|0.8285|0.5496|0.9751|0.8732||||||||||0.788|0.4231|0.9693|0.8243|0.9571|0.5629|0.9564|0.9146|0.9734|0.8195|0.8785|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||2/4|ENST00000437963.5:c.72+731A>G|||||||rs13303101||1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.6827|0.3442|0.8285|0.5496|0.9751|0.8732||||||||||0.788|0.4231|0.9693|0.8243|0.9571|0.5629|0.9564|0.9146|0.9734|0.8195|0.8785|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||2/13|ENST00000616016.5:c.609+731A>G|||||||rs13303101||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.6827|0.3442|0.8285|0.5496|0.9751|0.8732||||||||||0.788|0.4231|0.9693|0.8243|0.9571|0.5629|0.9564|0.9146|0.9734|0.8195|0.8785|0.9751|EUR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||1/10|ENST00000616125.5:c.72+731A>G|||||||rs13303101||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.6827|0.3442|0.8285|0.5496|0.9751|0.8732||||||||||0.788|0.4231|0.9693|0.8243|0.9571|0.5629|0.9564|0.9146|0.9734|0.8195|0.8785|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||1/12|ENST00000617307.5:c.72+731A>G|||||||rs13303101||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.6827|0.3442|0.8285|0.5496|0.9751|0.8732||||||||||0.788|0.4231|0.9693|0.8243|0.9571|0.5629|0.9564|0.9146|0.9734|0.8195|0.8785|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||1/9|ENST00000618181.5:c.72+731A>G|||||||rs13303101||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.6827|0.3442|0.8285|0.5496|0.9751|0.8732||||||||||0.788|0.4231|0.9693|0.8243|0.9571|0.5629|0.9564|0.9146|0.9734|0.8195|0.8785|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||2/13|ENST00000618323.5:c.609+731A>G|||||||rs13303101||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.6827|0.3442|0.8285|0.5496|0.9751|0.8732||||||||||0.788|0.4231|0.9693|0.8243|0.9571|0.5629|0.9564|0.9146|0.9734|0.8195|0.8785|0.9751|EUR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||1/11|ENST00000618779.5:c.72+731A>G|||||||rs13303101||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.6827|0.3442|0.8285|0.5496|0.9751|0.8732||||||||||0.788|0.4231|0.9693|0.8243|0.9571|0.5629|0.9564|0.9146|0.9734|0.8195|0.8785|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||1/12|ENST00000622503.5:c.72+731A>G|||||||rs13303101||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.6827|0.3442|0.8285|0.5496|0.9751|0.8732||||||||||0.788|0.4231|0.9693|0.8243|0.9571|0.5629|0.9564|0.9146|0.9734|0.8195|0.8785|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344423|promoter||||||||||rs13303101||||SNV||||||||||||||||||||0.6827|0.3442|0.8285|0.5496|0.9751|0.8732||||||||||0.788|0.4231|0.9693|0.8243|0.9571|0.5629|0.9564|0.9146|0.9734|0.8195|0.8785|0.9751|EUR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,0:0,1:0,2:0,0,1,2 -chr1 927003 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=2;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=57;POPAF=7.3;TLOD=13.02;SRC=custom;GRP=custom;CSQ=T|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||||||||||rs6680268|3309|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.6817|0.3389|0.83|0.5476|0.9751|0.8763||||||||||0.786|0.4155|0.9692|0.8243|0.957|0.5633|0.9562|0.9135|0.9734|0.8198|0.8788|0.9751|EUR|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||2/13|ENST00000342066.8:c.72+990C>T|||||||rs6680268||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.6817|0.3389|0.83|0.5476|0.9751|0.8763||||||||||0.786|0.4155|0.9692|0.8243|0.957|0.5633|0.9562|0.9135|0.9734|0.8198|0.8788|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||2/4|ENST00000437963.5:c.72+990C>T|||||||rs6680268||1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.6817|0.3389|0.83|0.5476|0.9751|0.8763||||||||||0.786|0.4155|0.9692|0.8243|0.957|0.5633|0.9562|0.9135|0.9734|0.8198|0.8788|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||2/13|ENST00000616016.5:c.609+990C>T|||||||rs6680268||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.6817|0.3389|0.83|0.5476|0.9751|0.8763||||||||||0.786|0.4155|0.9692|0.8243|0.957|0.5633|0.9562|0.9135|0.9734|0.8198|0.8788|0.9751|EUR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||1/10|ENST00000616125.5:c.72+990C>T|||||||rs6680268||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.6817|0.3389|0.83|0.5476|0.9751|0.8763||||||||||0.786|0.4155|0.9692|0.8243|0.957|0.5633|0.9562|0.9135|0.9734|0.8198|0.8788|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||1/12|ENST00000617307.5:c.72+990C>T|||||||rs6680268||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.6817|0.3389|0.83|0.5476|0.9751|0.8763||||||||||0.786|0.4155|0.9692|0.8243|0.957|0.5633|0.9562|0.9135|0.9734|0.8198|0.8788|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||1/9|ENST00000618181.5:c.72+990C>T|||||||rs6680268||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.6817|0.3389|0.83|0.5476|0.9751|0.8763||||||||||0.786|0.4155|0.9692|0.8243|0.957|0.5633|0.9562|0.9135|0.9734|0.8198|0.8788|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||2/13|ENST00000618323.5:c.609+990C>T|||||||rs6680268||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.6817|0.3389|0.83|0.5476|0.9751|0.8763||||||||||0.786|0.4155|0.9692|0.8243|0.957|0.5633|0.9562|0.9135|0.9734|0.8198|0.8788|0.9751|EUR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||1/11|ENST00000618779.5:c.72+990C>T|||||||rs6680268||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.6817|0.3389|0.83|0.5476|0.9751|0.8763||||||||||0.786|0.4155|0.9692|0.8243|0.957|0.5633|0.9562|0.9135|0.9734|0.8198|0.8788|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||1/12|ENST00000622503.5:c.72+990C>T|||||||rs6680268||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.6817|0.3389|0.83|0.5476|0.9751|0.8763||||||||||0.786|0.4155|0.9692|0.8243|0.957|0.5633|0.9562|0.9135|0.9734|0.8198|0.8788|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.75:3:0,1:0,1:0,2:0|1:927003_C_T:927003:0,0,1,2 -chr1 927009 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=2;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=63;POPAF=7.3;TLOD=13.02;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||||||||||rs6693546|3303|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.6829|0.3434|0.83|0.5476|0.9751|0.8763||||||||||0.7769|0.42|0.9637|0.8161|0.903|0.5629|0.9374|0.9129|0.9581|0.8085|0.8771|0.9751|EUR|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||2/13|ENST00000342066.8:c.72+996A>G|||||||rs6693546||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.6829|0.3434|0.83|0.5476|0.9751|0.8763||||||||||0.7769|0.42|0.9637|0.8161|0.903|0.5629|0.9374|0.9129|0.9581|0.8085|0.8771|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||2/4|ENST00000437963.5:c.72+996A>G|||||||rs6693546||1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.6829|0.3434|0.83|0.5476|0.9751|0.8763||||||||||0.7769|0.42|0.9637|0.8161|0.903|0.5629|0.9374|0.9129|0.9581|0.8085|0.8771|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||2/13|ENST00000616016.5:c.609+996A>G|||||||rs6693546||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.6829|0.3434|0.83|0.5476|0.9751|0.8763||||||||||0.7769|0.42|0.9637|0.8161|0.903|0.5629|0.9374|0.9129|0.9581|0.8085|0.8771|0.9751|EUR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||1/10|ENST00000616125.5:c.72+996A>G|||||||rs6693546||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.6829|0.3434|0.83|0.5476|0.9751|0.8763||||||||||0.7769|0.42|0.9637|0.8161|0.903|0.5629|0.9374|0.9129|0.9581|0.8085|0.8771|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||1/12|ENST00000617307.5:c.72+996A>G|||||||rs6693546||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.6829|0.3434|0.83|0.5476|0.9751|0.8763||||||||||0.7769|0.42|0.9637|0.8161|0.903|0.5629|0.9374|0.9129|0.9581|0.8085|0.8771|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||1/9|ENST00000618181.5:c.72+996A>G|||||||rs6693546||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.6829|0.3434|0.83|0.5476|0.9751|0.8763||||||||||0.7769|0.42|0.9637|0.8161|0.903|0.5629|0.9374|0.9129|0.9581|0.8085|0.8771|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||2/13|ENST00000618323.5:c.609+996A>G|||||||rs6693546||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.6829|0.3434|0.83|0.5476|0.9751|0.8763||||||||||0.7769|0.42|0.9637|0.8161|0.903|0.5629|0.9374|0.9129|0.9581|0.8085|0.8771|0.9751|EUR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||1/11|ENST00000618779.5:c.72+996A>G|||||||rs6693546||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.6829|0.3434|0.83|0.5476|0.9751|0.8763||||||||||0.7769|0.42|0.9637|0.8161|0.903|0.5629|0.9374|0.9129|0.9581|0.8085|0.8771|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||1/12|ENST00000622503.5:c.72+996A>G|||||||rs6693546||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.6829|0.3434|0.83|0.5476|0.9751|0.8763||||||||||0.7769|0.42|0.9637|0.8161|0.903|0.5629|0.9374|0.9129|0.9581|0.8085|0.8771|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.75:3:0,1:0,1:0,2:0|1:927003_C_T:927003:0,0,1,2 -chr1 927376 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5%2C5|1%2C1;DP=12;ECNT=1;GERMQ=48;MBQ=32,34;MFRL=0,0;MMQ=60,60;MPOS=71;POPAF=7.3;TLOD=5.68;SRC=custom;GRP=custom;CSQ=C|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding|||||||||||2936|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||||||||||||||||||||||||||||||||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||2/13|ENST00000342066.8:c.72+1363G>C|||||||||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||2/4|ENST00000437963.5:c.72+1363G>C|||||||||1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||2/13|ENST00000616016.5:c.609+1363G>C|||||||||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||||||||||||||||||||||||||||||||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||1/10|ENST00000616125.5:c.72+1363G>C|||||||||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||1/12|ENST00000617307.5:c.72+1363G>C|||||||||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||1/9|ENST00000618181.5:c.72+1363G>C|||||||||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||2/13|ENST00000618323.5:c.609+1363G>C|||||||||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||||||||||||||||||||||||||||||||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||1/11|ENST00000618779.5:c.72+1363G>C|||||||||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||1/12|ENST00000622503.5:c.72+1363G>C|||||||||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:10,2:0.222:12:0,0:5,1:6,1:5,5,1,1 -chr1 927443 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C4|1%2C1;DP=9;ECNT=2;GERMQ=43;MBQ=35,33;MFRL=0,0;MMQ=60,60;MPOS=57;POPAF=7.3;TLOD=5.98;SRC=custom;GRP=custom;CSQ=T|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||||||||||rs960680510|2869|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1|||||||||||||||||||||7.092e-06|0|0|0|0|0|0|0|1.477e-05|0|0|1.477e-05|gnomADg_NFE|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||2/13|ENST00000342066.8:c.72+1430C>T|||||||rs960680510||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1|||||||||||||||||||||7.092e-06|0|0|0|0|0|0|0|1.477e-05|0|0|1.477e-05|gnomADg_NFE|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||2/4|ENST00000437963.5:c.72+1430C>T|||||||rs960680510||1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1|||||||||||||||||||||7.092e-06|0|0|0|0|0|0|0|1.477e-05|0|0|1.477e-05|gnomADg_NFE|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||2/13|ENST00000616016.5:c.609+1430C>T|||||||rs960680510||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1|||||||||||||||||||||7.092e-06|0|0|0|0|0|0|0|1.477e-05|0|0|1.477e-05|gnomADg_NFE|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||1/10|ENST00000616125.5:c.72+1430C>T|||||||rs960680510||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1|||||||||||||||||||||7.092e-06|0|0|0|0|0|0|0|1.477e-05|0|0|1.477e-05|gnomADg_NFE|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||1/12|ENST00000617307.5:c.72+1430C>T|||||||rs960680510||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1|||||||||||||||||||||7.092e-06|0|0|0|0|0|0|0|1.477e-05|0|0|1.477e-05|gnomADg_NFE|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||1/9|ENST00000618181.5:c.72+1430C>T|||||||rs960680510||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1|||||||||||||||||||||7.092e-06|0|0|0|0|0|0|0|1.477e-05|0|0|1.477e-05|gnomADg_NFE|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||2/13|ENST00000618323.5:c.609+1430C>T|||||||rs960680510||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1|||||||||||||||||||||7.092e-06|0|0|0|0|0|0|0|1.477e-05|0|0|1.477e-05|gnomADg_NFE|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||1/11|ENST00000618779.5:c.72+1430C>T|||||||rs960680510||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1|||||||||||||||||||||7.092e-06|0|0|0|0|0|0|0|1.477e-05|0|0|1.477e-05|gnomADg_NFE|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||1/12|ENST00000622503.5:c.72+1430C>T|||||||rs960680510||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1|||||||||||||||||||||7.092e-06|0|0|0|0|0|0|0|1.477e-05|0|0|1.477e-05|gnomADg_NFE|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,2:0.286:9:0,0:3,1:4,1:3,4,1,1 -chr1 927486 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C4|2%2C2;DP=14;ECNT=2;GERMQ=37;MBQ=32,32;MFRL=0,0;MMQ=60,60;MPOS=70;POPAF=7.3;TLOD=12.43;SRC=custom;GRP=custom;CSQ=T|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||||||||||rs3892970|2826|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.4766|0.2731|0.5893|0.2758|0.7694|0.5777||||||||||0.5972|0.3288|0.5899|0.5844|0.7117|0.259|0.7367|0.7215|0.7601|0.6184|0.6026|0.7694|EUR|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||2/13|ENST00000342066.8:c.72+1473C>T|||||||rs3892970||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.4766|0.2731|0.5893|0.2758|0.7694|0.5777||||||||||0.5972|0.3288|0.5899|0.5844|0.7117|0.259|0.7367|0.7215|0.7601|0.6184|0.6026|0.7694|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||2/4|ENST00000437963.5:c.72+1473C>T|||||||rs3892970||1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.4766|0.2731|0.5893|0.2758|0.7694|0.5777||||||||||0.5972|0.3288|0.5899|0.5844|0.7117|0.259|0.7367|0.7215|0.7601|0.6184|0.6026|0.7694|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||2/13|ENST00000616016.5:c.609+1473C>T|||||||rs3892970||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.4766|0.2731|0.5893|0.2758|0.7694|0.5777||||||||||0.5972|0.3288|0.5899|0.5844|0.7117|0.259|0.7367|0.7215|0.7601|0.6184|0.6026|0.7694|EUR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||1/10|ENST00000616125.5:c.72+1473C>T|||||||rs3892970||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.4766|0.2731|0.5893|0.2758|0.7694|0.5777||||||||||0.5972|0.3288|0.5899|0.5844|0.7117|0.259|0.7367|0.7215|0.7601|0.6184|0.6026|0.7694|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||1/12|ENST00000617307.5:c.72+1473C>T|||||||rs3892970||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.4766|0.2731|0.5893|0.2758|0.7694|0.5777||||||||||0.5972|0.3288|0.5899|0.5844|0.7117|0.259|0.7367|0.7215|0.7601|0.6184|0.6026|0.7694|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||1/9|ENST00000618181.5:c.72+1473C>T|||||||rs3892970||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.4766|0.2731|0.5893|0.2758|0.7694|0.5777||||||||||0.5972|0.3288|0.5899|0.5844|0.7117|0.259|0.7367|0.7215|0.7601|0.6184|0.6026|0.7694|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||2/13|ENST00000618323.5:c.609+1473C>T|||||||rs3892970||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.4766|0.2731|0.5893|0.2758|0.7694|0.5777||||||||||0.5972|0.3288|0.5899|0.5844|0.7117|0.259|0.7367|0.7215|0.7601|0.6184|0.6026|0.7694|EUR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||1/11|ENST00000618779.5:c.72+1473C>T|||||||rs3892970||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.4766|0.2731|0.5893|0.2758|0.7694|0.5777||||||||||0.5972|0.3288|0.5899|0.5844|0.7117|0.259|0.7367|0.7215|0.7601|0.6184|0.6026|0.7694|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||1/12|ENST00000622503.5:c.72+1473C>T|||||||rs3892970||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.4766|0.2731|0.5893|0.2758|0.7694|0.5777||||||||||0.5972|0.3288|0.5899|0.5844|0.7117|0.259|0.7367|0.7215|0.7601|0.6184|0.6026|0.7694|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,4:0.372:10:0,0:2,2:4,2:2,4,2,2 -chr1 927744 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|6%2C5;DP=11;ECNT=1;GERMQ=72;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=67;POPAF=7.3;TLOD=40.47;SRC=custom;GRP=custom;CSQ=T|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||||||||||rs4040604|2568|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.6801|0.3343|0.8285|0.5476|0.9751|0.8753||||||||||0.7854|0.4151|0.9693|0.8235|0.9571|0.5621|0.9565|0.9146|0.9732|0.8174|0.8771|0.9751|EUR|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||2/13|ENST00000342066.8:c.72+1731G>T|||||||rs4040604||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.6801|0.3343|0.8285|0.5476|0.9751|0.8753||||||||||0.7854|0.4151|0.9693|0.8235|0.9571|0.5621|0.9565|0.9146|0.9732|0.8174|0.8771|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||2/4|ENST00000437963.5:c.72+1731G>T|||||||rs4040604||1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.6801|0.3343|0.8285|0.5476|0.9751|0.8753||||||||||0.7854|0.4151|0.9693|0.8235|0.9571|0.5621|0.9565|0.9146|0.9732|0.8174|0.8771|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||2/13|ENST00000616016.5:c.609+1731G>T|||||||rs4040604||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.6801|0.3343|0.8285|0.5476|0.9751|0.8753||||||||||0.7854|0.4151|0.9693|0.8235|0.9571|0.5621|0.9565|0.9146|0.9732|0.8174|0.8771|0.9751|EUR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||1/10|ENST00000616125.5:c.72+1731G>T|||||||rs4040604||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.6801|0.3343|0.8285|0.5476|0.9751|0.8753||||||||||0.7854|0.4151|0.9693|0.8235|0.9571|0.5621|0.9565|0.9146|0.9732|0.8174|0.8771|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||1/12|ENST00000617307.5:c.72+1731G>T|||||||rs4040604||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.6801|0.3343|0.8285|0.5476|0.9751|0.8753||||||||||0.7854|0.4151|0.9693|0.8235|0.9571|0.5621|0.9565|0.9146|0.9732|0.8174|0.8771|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||1/9|ENST00000618181.5:c.72+1731G>T|||||||rs4040604||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.6801|0.3343|0.8285|0.5476|0.9751|0.8753||||||||||0.7854|0.4151|0.9693|0.8235|0.9571|0.5621|0.9565|0.9146|0.9732|0.8174|0.8771|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||2/13|ENST00000618323.5:c.609+1731G>T|||||||rs4040604||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.6801|0.3343|0.8285|0.5476|0.9751|0.8753||||||||||0.7854|0.4151|0.9693|0.8235|0.9571|0.5621|0.9565|0.9146|0.9732|0.8174|0.8771|0.9751|EUR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||1/11|ENST00000618779.5:c.72+1731G>T|||||||rs4040604||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.6801|0.3343|0.8285|0.5476|0.9751|0.8753||||||||||0.7854|0.4151|0.9693|0.8235|0.9571|0.5621|0.9565|0.9146|0.9732|0.8174|0.8771|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||1/12|ENST00000622503.5:c.72+1731G>T|||||||rs4040604||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.6801|0.3343|0.8285|0.5476|0.9751|0.8753||||||||||0.7854|0.4151|0.9693|0.8235|0.9571|0.5621|0.9565|0.9146|0.9732|0.8174|0.8771|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,11:0.875:11:0,0:0,6:0,6:0,0,6,5 -chr1 927744 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=94;POPAF=7.3;TLOD=7.08;SRC=custom;GRP=custom;CSQ=T|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||||||||||rs4040604|2568|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.6801|0.3343|0.8285|0.5476|0.9751|0.8753||||||||||0.7854|0.4151|0.9693|0.8235|0.9571|0.5621|0.9565|0.9146|0.9732|0.8174|0.8771|0.9751|EUR|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||2/13|ENST00000342066.8:c.72+1731G>T|||||||rs4040604||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.6801|0.3343|0.8285|0.5476|0.9751|0.8753||||||||||0.7854|0.4151|0.9693|0.8235|0.9571|0.5621|0.9565|0.9146|0.9732|0.8174|0.8771|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||2/4|ENST00000437963.5:c.72+1731G>T|||||||rs4040604||1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.6801|0.3343|0.8285|0.5476|0.9751|0.8753||||||||||0.7854|0.4151|0.9693|0.8235|0.9571|0.5621|0.9565|0.9146|0.9732|0.8174|0.8771|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||2/13|ENST00000616016.5:c.609+1731G>T|||||||rs4040604||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.6801|0.3343|0.8285|0.5476|0.9751|0.8753||||||||||0.7854|0.4151|0.9693|0.8235|0.9571|0.5621|0.9565|0.9146|0.9732|0.8174|0.8771|0.9751|EUR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||1/10|ENST00000616125.5:c.72+1731G>T|||||||rs4040604||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.6801|0.3343|0.8285|0.5476|0.9751|0.8753||||||||||0.7854|0.4151|0.9693|0.8235|0.9571|0.5621|0.9565|0.9146|0.9732|0.8174|0.8771|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||1/12|ENST00000617307.5:c.72+1731G>T|||||||rs4040604||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.6801|0.3343|0.8285|0.5476|0.9751|0.8753||||||||||0.7854|0.4151|0.9693|0.8235|0.9571|0.5621|0.9565|0.9146|0.9732|0.8174|0.8771|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||1/9|ENST00000618181.5:c.72+1731G>T|||||||rs4040604||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.6801|0.3343|0.8285|0.5476|0.9751|0.8753||||||||||0.7854|0.4151|0.9693|0.8235|0.9571|0.5621|0.9565|0.9146|0.9732|0.8174|0.8771|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||2/13|ENST00000618323.5:c.609+1731G>T|||||||rs4040604||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.6801|0.3343|0.8285|0.5476|0.9751|0.8753||||||||||0.7854|0.4151|0.9693|0.8235|0.9571|0.5621|0.9565|0.9146|0.9732|0.8174|0.8771|0.9751|EUR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||1/11|ENST00000618779.5:c.72+1731G>T|||||||rs4040604||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.6801|0.3343|0.8285|0.5476|0.9751|0.8753||||||||||0.7854|0.4151|0.9693|0.8235|0.9571|0.5621|0.9565|0.9146|0.9732|0.8174|0.8771|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||1/12|ENST00000622503.5:c.72+1731G>T|||||||rs4040604||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.6801|0.3343|0.8285|0.5476|0.9751|0.8753||||||||||0.7854|0.4151|0.9693|0.8235|0.9571|0.5621|0.9565|0.9146|0.9732|0.8174|0.8771|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.75:2:0,2:0,0:0,2:0,0,0,2 -chr1 928176 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=2;GERMQ=44;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=132;POPAF=7.3;TLOD=4.2;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||||||||||rs7410998|2136|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.9101|0.879|0.866|0.9335|0.9076|0.9622||||||||||0.9065|0.89|0.9581|0.8786|0.9296|0.9257|0.9328|0.8917|0.9116|0.9219|0.9532|0.9622|SAS|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||2/13|ENST00000342066.8:c.73-1979G>A|||||||rs7410998||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.9101|0.879|0.866|0.9335|0.9076|0.9622||||||||||0.9065|0.89|0.9581|0.8786|0.9296|0.9257|0.9328|0.8917|0.9116|0.9219|0.9532|0.9622|SAS|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||2/4|ENST00000437963.5:c.73-1979G>A|||||||rs7410998||1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.9101|0.879|0.866|0.9335|0.9076|0.9622||||||||||0.9065|0.89|0.9581|0.8786|0.9296|0.9257|0.9328|0.8917|0.9116|0.9219|0.9532|0.9622|SAS|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||2/13|ENST00000616016.5:c.610-1979G>A|||||||rs7410998||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.9101|0.879|0.866|0.9335|0.9076|0.9622||||||||||0.9065|0.89|0.9581|0.8786|0.9296|0.9257|0.9328|0.8917|0.9116|0.9219|0.9532|0.9622|SAS|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||1/10|ENST00000616125.5:c.73-1979G>A|||||||rs7410998||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.9101|0.879|0.866|0.9335|0.9076|0.9622||||||||||0.9065|0.89|0.9581|0.8786|0.9296|0.9257|0.9328|0.8917|0.9116|0.9219|0.9532|0.9622|SAS|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||1/12|ENST00000617307.5:c.73-1979G>A|||||||rs7410998||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.9101|0.879|0.866|0.9335|0.9076|0.9622||||||||||0.9065|0.89|0.9581|0.8786|0.9296|0.9257|0.9328|0.8917|0.9116|0.9219|0.9532|0.9622|SAS|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||1/9|ENST00000618181.5:c.73-1979G>A|||||||rs7410998||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.9101|0.879|0.866|0.9335|0.9076|0.9622||||||||||0.9065|0.89|0.9581|0.8786|0.9296|0.9257|0.9328|0.8917|0.9116|0.9219|0.9532|0.9622|SAS|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||2/13|ENST00000618323.5:c.610-1979G>A|||||||rs7410998||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.9101|0.879|0.866|0.9335|0.9076|0.9622||||||||||0.9065|0.89|0.9581|0.8786|0.9296|0.9257|0.9328|0.8917|0.9116|0.9219|0.9532|0.9622|SAS|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||1/11|ENST00000618779.5:c.73-1979G>A|||||||rs7410998||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.9101|0.879|0.866|0.9335|0.9076|0.9622||||||||||0.9065|0.89|0.9581|0.8786|0.9296|0.9257|0.9328|0.8917|0.9116|0.9219|0.9532|0.9622|SAS|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||1/12|ENST00000622503.5:c.73-1979G>A|||||||rs7410998||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.9101|0.879|0.866|0.9335|0.9076|0.9622||||||||||0.9065|0.89|0.9581|0.8786|0.9296|0.9257|0.9328|0.8917|0.9116|0.9219|0.9532|0.9622|SAS|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,1:0,0:0,1:0|1:928176_G_A:928176:0,0,0,1 -chr1 928176 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=2;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=115;POPAF=7.3;TLOD=4.2;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||||||||||rs7410998|2136|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.9101|0.879|0.866|0.9335|0.9076|0.9622||||||||||0.9065|0.89|0.9581|0.8786|0.9296|0.9257|0.9328|0.8917|0.9116|0.9219|0.9532|0.9622|SAS|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||2/13|ENST00000342066.8:c.73-1979G>A|||||||rs7410998||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.9101|0.879|0.866|0.9335|0.9076|0.9622||||||||||0.9065|0.89|0.9581|0.8786|0.9296|0.9257|0.9328|0.8917|0.9116|0.9219|0.9532|0.9622|SAS|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||2/4|ENST00000437963.5:c.73-1979G>A|||||||rs7410998||1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.9101|0.879|0.866|0.9335|0.9076|0.9622||||||||||0.9065|0.89|0.9581|0.8786|0.9296|0.9257|0.9328|0.8917|0.9116|0.9219|0.9532|0.9622|SAS|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||2/13|ENST00000616016.5:c.610-1979G>A|||||||rs7410998||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.9101|0.879|0.866|0.9335|0.9076|0.9622||||||||||0.9065|0.89|0.9581|0.8786|0.9296|0.9257|0.9328|0.8917|0.9116|0.9219|0.9532|0.9622|SAS|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||1/10|ENST00000616125.5:c.73-1979G>A|||||||rs7410998||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.9101|0.879|0.866|0.9335|0.9076|0.9622||||||||||0.9065|0.89|0.9581|0.8786|0.9296|0.9257|0.9328|0.8917|0.9116|0.9219|0.9532|0.9622|SAS|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||1/12|ENST00000617307.5:c.73-1979G>A|||||||rs7410998||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.9101|0.879|0.866|0.9335|0.9076|0.9622||||||||||0.9065|0.89|0.9581|0.8786|0.9296|0.9257|0.9328|0.8917|0.9116|0.9219|0.9532|0.9622|SAS|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||1/9|ENST00000618181.5:c.73-1979G>A|||||||rs7410998||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.9101|0.879|0.866|0.9335|0.9076|0.9622||||||||||0.9065|0.89|0.9581|0.8786|0.9296|0.9257|0.9328|0.8917|0.9116|0.9219|0.9532|0.9622|SAS|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||2/13|ENST00000618323.5:c.610-1979G>A|||||||rs7410998||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.9101|0.879|0.866|0.9335|0.9076|0.9622||||||||||0.9065|0.89|0.9581|0.8786|0.9296|0.9257|0.9328|0.8917|0.9116|0.9219|0.9532|0.9622|SAS|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||1/11|ENST00000618779.5:c.73-1979G>A|||||||rs7410998||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.9101|0.879|0.866|0.9335|0.9076|0.9622||||||||||0.9065|0.89|0.9581|0.8786|0.9296|0.9257|0.9328|0.8917|0.9116|0.9219|0.9532|0.9622|SAS|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||1/12|ENST00000622503.5:c.73-1979G>A|||||||rs7410998||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.9101|0.879|0.866|0.9335|0.9076|0.9622||||||||||0.9065|0.89|0.9581|0.8786|0.9296|0.9257|0.9328|0.8917|0.9116|0.9219|0.9532|0.9622|SAS|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,1:0,0:0,1:0|1:928176_G_A:928176:0,0,0,1 -chr1 928182 . A C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=2;GERMQ=44;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=138;POPAF=7.3;TLOD=4.2;SRC=custom;GRP=custom;CSQ=C|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||||||||||rs7417972|2130|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.8462|0.7973|0.7579|0.8333|0.9006|0.9325||||||||||0.8761|0.8316|0.9581|0.7872|0.9233|0.8515|0.9295|0.8981|0.9091|0.8974|0.9261|0.9581|gnomADg_AMI|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||2/13|ENST00000342066.8:c.73-1973A>C|||||||rs7417972||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.8462|0.7973|0.7579|0.8333|0.9006|0.9325||||||||||0.8761|0.8316|0.9581|0.7872|0.9233|0.8515|0.9295|0.8981|0.9091|0.8974|0.9261|0.9581|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||2/4|ENST00000437963.5:c.73-1973A>C|||||||rs7417972||1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.8462|0.7973|0.7579|0.8333|0.9006|0.9325||||||||||0.8761|0.8316|0.9581|0.7872|0.9233|0.8515|0.9295|0.8981|0.9091|0.8974|0.9261|0.9581|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||2/13|ENST00000616016.5:c.610-1973A>C|||||||rs7417972||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.8462|0.7973|0.7579|0.8333|0.9006|0.9325||||||||||0.8761|0.8316|0.9581|0.7872|0.9233|0.8515|0.9295|0.8981|0.9091|0.8974|0.9261|0.9581|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||1/10|ENST00000616125.5:c.73-1973A>C|||||||rs7417972||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.8462|0.7973|0.7579|0.8333|0.9006|0.9325||||||||||0.8761|0.8316|0.9581|0.7872|0.9233|0.8515|0.9295|0.8981|0.9091|0.8974|0.9261|0.9581|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||1/12|ENST00000617307.5:c.73-1973A>C|||||||rs7417972||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.8462|0.7973|0.7579|0.8333|0.9006|0.9325||||||||||0.8761|0.8316|0.9581|0.7872|0.9233|0.8515|0.9295|0.8981|0.9091|0.8974|0.9261|0.9581|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||1/9|ENST00000618181.5:c.73-1973A>C|||||||rs7417972||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.8462|0.7973|0.7579|0.8333|0.9006|0.9325||||||||||0.8761|0.8316|0.9581|0.7872|0.9233|0.8515|0.9295|0.8981|0.9091|0.8974|0.9261|0.9581|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||2/13|ENST00000618323.5:c.610-1973A>C|||||||rs7417972||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.8462|0.7973|0.7579|0.8333|0.9006|0.9325||||||||||0.8761|0.8316|0.9581|0.7872|0.9233|0.8515|0.9295|0.8981|0.9091|0.8974|0.9261|0.9581|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||1/11|ENST00000618779.5:c.73-1973A>C|||||||rs7417972||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.8462|0.7973|0.7579|0.8333|0.9006|0.9325||||||||||0.8761|0.8316|0.9581|0.7872|0.9233|0.8515|0.9295|0.8981|0.9091|0.8974|0.9261|0.9581|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||1/12|ENST00000622503.5:c.73-1973A>C|||||||rs7417972||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.8462|0.7973|0.7579|0.8333|0.9006|0.9325||||||||||0.8761|0.8316|0.9581|0.7872|0.9233|0.8515|0.9295|0.8981|0.9091|0.8974|0.9261|0.9581|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,1:0,0:0,1:0|1:928176_G_A:928176:0,0,0,1 -chr1 928182 . A C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=2;GERMQ=44;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=121;POPAF=7.3;TLOD=4.2;SRC=custom;GRP=custom;CSQ=C|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||||||||||rs7417972|2130|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.8462|0.7973|0.7579|0.8333|0.9006|0.9325||||||||||0.8761|0.8316|0.9581|0.7872|0.9233|0.8515|0.9295|0.8981|0.9091|0.8974|0.9261|0.9581|gnomADg_AMI|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||2/13|ENST00000342066.8:c.73-1973A>C|||||||rs7417972||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.8462|0.7973|0.7579|0.8333|0.9006|0.9325||||||||||0.8761|0.8316|0.9581|0.7872|0.9233|0.8515|0.9295|0.8981|0.9091|0.8974|0.9261|0.9581|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||2/4|ENST00000437963.5:c.73-1973A>C|||||||rs7417972||1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.8462|0.7973|0.7579|0.8333|0.9006|0.9325||||||||||0.8761|0.8316|0.9581|0.7872|0.9233|0.8515|0.9295|0.8981|0.9091|0.8974|0.9261|0.9581|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||2/13|ENST00000616016.5:c.610-1973A>C|||||||rs7417972||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.8462|0.7973|0.7579|0.8333|0.9006|0.9325||||||||||0.8761|0.8316|0.9581|0.7872|0.9233|0.8515|0.9295|0.8981|0.9091|0.8974|0.9261|0.9581|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||1/10|ENST00000616125.5:c.73-1973A>C|||||||rs7417972||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.8462|0.7973|0.7579|0.8333|0.9006|0.9325||||||||||0.8761|0.8316|0.9581|0.7872|0.9233|0.8515|0.9295|0.8981|0.9091|0.8974|0.9261|0.9581|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||1/12|ENST00000617307.5:c.73-1973A>C|||||||rs7417972||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.8462|0.7973|0.7579|0.8333|0.9006|0.9325||||||||||0.8761|0.8316|0.9581|0.7872|0.9233|0.8515|0.9295|0.8981|0.9091|0.8974|0.9261|0.9581|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||1/9|ENST00000618181.5:c.73-1973A>C|||||||rs7417972||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.8462|0.7973|0.7579|0.8333|0.9006|0.9325||||||||||0.8761|0.8316|0.9581|0.7872|0.9233|0.8515|0.9295|0.8981|0.9091|0.8974|0.9261|0.9581|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||2/13|ENST00000618323.5:c.610-1973A>C|||||||rs7417972||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.8462|0.7973|0.7579|0.8333|0.9006|0.9325||||||||||0.8761|0.8316|0.9581|0.7872|0.9233|0.8515|0.9295|0.8981|0.9091|0.8974|0.9261|0.9581|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||1/11|ENST00000618779.5:c.73-1973A>C|||||||rs7417972||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.8462|0.7973|0.7579|0.8333|0.9006|0.9325||||||||||0.8761|0.8316|0.9581|0.7872|0.9233|0.8515|0.9295|0.8981|0.9091|0.8974|0.9261|0.9581|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||1/12|ENST00000622503.5:c.73-1973A>C|||||||rs7417972||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.8462|0.7973|0.7579|0.8333|0.9006|0.9325||||||||||0.8761|0.8316|0.9581|0.7872|0.9233|0.8515|0.9295|0.8981|0.9091|0.8974|0.9261|0.9581|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,1:0,0:0,1:0|1:928176_G_A:928176:0,0,0,1 -chr1 928622 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=1;GERMQ=49;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=61;POPAF=7.3;TLOD=10.45;SRC=custom;GRP=custom;CSQ=C|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||||||||||rs1806501|1690|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.1617|0.0492|0.2334|0.0774|0.2068|0.3037||||||||||0.173|0.06598|0.3967|0.2146|0.2581|0.06849|0.2079|0.1772|0.216|0.1828|0.2811|0.3967|gnomADg_AMI|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||2/13|ENST00000342066.8:c.73-1533G>C|||||||rs1806501||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.1617|0.0492|0.2334|0.0774|0.2068|0.3037||||||||||0.173|0.06598|0.3967|0.2146|0.2581|0.06849|0.2079|0.1772|0.216|0.1828|0.2811|0.3967|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||2/4|ENST00000437963.5:c.73-1533G>C|||||||rs1806501||1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.1617|0.0492|0.2334|0.0774|0.2068|0.3037||||||||||0.173|0.06598|0.3967|0.2146|0.2581|0.06849|0.2079|0.1772|0.216|0.1828|0.2811|0.3967|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||2/13|ENST00000616016.5:c.610-1533G>C|||||||rs1806501||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.1617|0.0492|0.2334|0.0774|0.2068|0.3037||||||||||0.173|0.06598|0.3967|0.2146|0.2581|0.06849|0.2079|0.1772|0.216|0.1828|0.2811|0.3967|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||1/10|ENST00000616125.5:c.73-1533G>C|||||||rs1806501||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.1617|0.0492|0.2334|0.0774|0.2068|0.3037||||||||||0.173|0.06598|0.3967|0.2146|0.2581|0.06849|0.2079|0.1772|0.216|0.1828|0.2811|0.3967|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||1/12|ENST00000617307.5:c.73-1533G>C|||||||rs1806501||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.1617|0.0492|0.2334|0.0774|0.2068|0.3037||||||||||0.173|0.06598|0.3967|0.2146|0.2581|0.06849|0.2079|0.1772|0.216|0.1828|0.2811|0.3967|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||1/9|ENST00000618181.5:c.73-1533G>C|||||||rs1806501||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.1617|0.0492|0.2334|0.0774|0.2068|0.3037||||||||||0.173|0.06598|0.3967|0.2146|0.2581|0.06849|0.2079|0.1772|0.216|0.1828|0.2811|0.3967|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||2/13|ENST00000618323.5:c.610-1533G>C|||||||rs1806501||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.1617|0.0492|0.2334|0.0774|0.2068|0.3037||||||||||0.173|0.06598|0.3967|0.2146|0.2581|0.06849|0.2079|0.1772|0.216|0.1828|0.2811|0.3967|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||1/11|ENST00000618779.5:c.73-1533G>C|||||||rs1806501||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.1617|0.0492|0.2334|0.0774|0.2068|0.3037||||||||||0.173|0.06598|0.3967|0.2146|0.2581|0.06849|0.2079|0.1772|0.216|0.1828|0.2811|0.3967|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||1/12|ENST00000622503.5:c.73-1533G>C|||||||rs1806501||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.1617|0.0492|0.2334|0.0774|0.2068|0.3037||||||||||0.173|0.06598|0.3967|0.2146|0.2581|0.06849|0.2079|0.1772|0.216|0.1828|0.2811|0.3967|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,1:0,1:0,2:0,0,1,2 -chr1 929346 . T A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=4;ECNT=3;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=107;POPAF=7.3;TLOD=10.73;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||||||||||rs2340590|966|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.9537|0.8313|0.9914|0.998|1|0.999||||||||||0.9604|0.8659|1|0.9819|1|0.9994|0.999|0.9778|0.9988|0.9641|0.9971|1|EUR&gnomADg_AMI&gnomADg_ASJ|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||2/13|ENST00000342066.8:c.73-809T>A|||||||rs2340590||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.9537|0.8313|0.9914|0.998|1|0.999||||||||||0.9604|0.8659|1|0.9819|1|0.9994|0.999|0.9778|0.9988|0.9641|0.9971|1|EUR&gnomADg_AMI&gnomADg_ASJ|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||2/4|ENST00000437963.5:c.73-809T>A|||||||rs2340590||1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.9537|0.8313|0.9914|0.998|1|0.999||||||||||0.9604|0.8659|1|0.9819|1|0.9994|0.999|0.9778|0.9988|0.9641|0.9971|1|EUR&gnomADg_AMI&gnomADg_ASJ|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||2/13|ENST00000616016.5:c.610-809T>A|||||||rs2340590||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.9537|0.8313|0.9914|0.998|1|0.999||||||||||0.9604|0.8659|1|0.9819|1|0.9994|0.999|0.9778|0.9988|0.9641|0.9971|1|EUR&gnomADg_AMI&gnomADg_ASJ|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||1/10|ENST00000616125.5:c.73-809T>A|||||||rs2340590||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.9537|0.8313|0.9914|0.998|1|0.999||||||||||0.9604|0.8659|1|0.9819|1|0.9994|0.999|0.9778|0.9988|0.9641|0.9971|1|EUR&gnomADg_AMI&gnomADg_ASJ|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||1/12|ENST00000617307.5:c.73-809T>A|||||||rs2340590||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.9537|0.8313|0.9914|0.998|1|0.999||||||||||0.9604|0.8659|1|0.9819|1|0.9994|0.999|0.9778|0.9988|0.9641|0.9971|1|EUR&gnomADg_AMI&gnomADg_ASJ|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||1/9|ENST00000618181.5:c.73-809T>A|||||||rs2340590||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.9537|0.8313|0.9914|0.998|1|0.999||||||||||0.9604|0.8659|1|0.9819|1|0.9994|0.999|0.9778|0.9988|0.9641|0.9971|1|EUR&gnomADg_AMI&gnomADg_ASJ|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||2/13|ENST00000618323.5:c.610-809T>A|||||||rs2340590||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.9537|0.8313|0.9914|0.998|1|0.999||||||||||0.9604|0.8659|1|0.9819|1|0.9994|0.999|0.9778|0.9988|0.9641|0.9971|1|EUR&gnomADg_AMI&gnomADg_ASJ|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||1/11|ENST00000618779.5:c.73-809T>A|||||||rs2340590||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.9537|0.8313|0.9914|0.998|1|0.999||||||||||0.9604|0.8659|1|0.9819|1|0.9994|0.999|0.9778|0.9988|0.9641|0.9971|1|EUR&gnomADg_AMI&gnomADg_ASJ|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||1/12|ENST00000622503.5:c.73-809T>A|||||||rs2340590||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.9537|0.8313|0.9914|0.998|1|0.999||||||||||0.9604|0.8659|1|0.9819|1|0.9994|0.999|0.9778|0.9988|0.9641|0.9971|1|EUR&gnomADg_AMI&gnomADg_ASJ|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.8:3:0,1:0,1:0,3:0,0,1,2 -chr1 929346 . T A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=3;GERMQ=52;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=55;POPAF=7.3;TLOD=14.83;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||||||||||rs2340590|966|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.9537|0.8313|0.9914|0.998|1|0.999||||||||||0.9604|0.8659|1|0.9819|1|0.9994|0.999|0.9778|0.9988|0.9641|0.9971|1|EUR&gnomADg_AMI&gnomADg_ASJ|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||2/13|ENST00000342066.8:c.73-809T>A|||||||rs2340590||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.9537|0.8313|0.9914|0.998|1|0.999||||||||||0.9604|0.8659|1|0.9819|1|0.9994|0.999|0.9778|0.9988|0.9641|0.9971|1|EUR&gnomADg_AMI&gnomADg_ASJ|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||2/4|ENST00000437963.5:c.73-809T>A|||||||rs2340590||1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.9537|0.8313|0.9914|0.998|1|0.999||||||||||0.9604|0.8659|1|0.9819|1|0.9994|0.999|0.9778|0.9988|0.9641|0.9971|1|EUR&gnomADg_AMI&gnomADg_ASJ|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||2/13|ENST00000616016.5:c.610-809T>A|||||||rs2340590||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.9537|0.8313|0.9914|0.998|1|0.999||||||||||0.9604|0.8659|1|0.9819|1|0.9994|0.999|0.9778|0.9988|0.9641|0.9971|1|EUR&gnomADg_AMI&gnomADg_ASJ|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||1/10|ENST00000616125.5:c.73-809T>A|||||||rs2340590||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.9537|0.8313|0.9914|0.998|1|0.999||||||||||0.9604|0.8659|1|0.9819|1|0.9994|0.999|0.9778|0.9988|0.9641|0.9971|1|EUR&gnomADg_AMI&gnomADg_ASJ|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||1/12|ENST00000617307.5:c.73-809T>A|||||||rs2340590||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.9537|0.8313|0.9914|0.998|1|0.999||||||||||0.9604|0.8659|1|0.9819|1|0.9994|0.999|0.9778|0.9988|0.9641|0.9971|1|EUR&gnomADg_AMI&gnomADg_ASJ|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||1/9|ENST00000618181.5:c.73-809T>A|||||||rs2340590||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.9537|0.8313|0.9914|0.998|1|0.999||||||||||0.9604|0.8659|1|0.9819|1|0.9994|0.999|0.9778|0.9988|0.9641|0.9971|1|EUR&gnomADg_AMI&gnomADg_ASJ|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||2/13|ENST00000618323.5:c.610-809T>A|||||||rs2340590||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.9537|0.8313|0.9914|0.998|1|0.999||||||||||0.9604|0.8659|1|0.9819|1|0.9994|0.999|0.9778|0.9988|0.9641|0.9971|1|EUR&gnomADg_AMI&gnomADg_ASJ|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||1/11|ENST00000618779.5:c.73-809T>A|||||||rs2340590||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.9537|0.8313|0.9914|0.998|1|0.999||||||||||0.9604|0.8659|1|0.9819|1|0.9994|0.999|0.9778|0.9988|0.9641|0.9971|1|EUR&gnomADg_AMI&gnomADg_ASJ|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||1/12|ENST00000622503.5:c.73-809T>A|||||||rs2340590||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.9537|0.8313|0.9914|0.998|1|0.999||||||||||0.9604|0.8659|1|0.9819|1|0.9994|0.999|0.9778|0.9988|0.9641|0.9971|1|EUR&gnomADg_AMI&gnomADg_ASJ|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 929375 . A G . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=3;GERMQ=49;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=39;POPAF=7.3;TLOD=13.02;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||||||||||rs2340589|937|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.7887|0.3926|0.8545|0.8839|0.9891|0.9734||||||||||0.8303|0.4748|1|0.8446|0.983|0.909|0.9931|0.9525|0.9904|0.8574|0.9675|1|gnomADg_AMI|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||2/13|ENST00000342066.8:c.73-780A>G|||||||rs2340589||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.7887|0.3926|0.8545|0.8839|0.9891|0.9734||||||||||0.8303|0.4748|1|0.8446|0.983|0.909|0.9931|0.9525|0.9904|0.8574|0.9675|1|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||2/4|ENST00000437963.5:c.73-780A>G|||||||rs2340589||1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.7887|0.3926|0.8545|0.8839|0.9891|0.9734||||||||||0.8303|0.4748|1|0.8446|0.983|0.909|0.9931|0.9525|0.9904|0.8574|0.9675|1|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||2/13|ENST00000616016.5:c.610-780A>G|||||||rs2340589||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.7887|0.3926|0.8545|0.8839|0.9891|0.9734||||||||||0.8303|0.4748|1|0.8446|0.983|0.909|0.9931|0.9525|0.9904|0.8574|0.9675|1|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||1/10|ENST00000616125.5:c.73-780A>G|||||||rs2340589||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.7887|0.3926|0.8545|0.8839|0.9891|0.9734||||||||||0.8303|0.4748|1|0.8446|0.983|0.909|0.9931|0.9525|0.9904|0.8574|0.9675|1|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||1/12|ENST00000617307.5:c.73-780A>G|||||||rs2340589||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.7887|0.3926|0.8545|0.8839|0.9891|0.9734||||||||||0.8303|0.4748|1|0.8446|0.983|0.909|0.9931|0.9525|0.9904|0.8574|0.9675|1|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||1/9|ENST00000618181.5:c.73-780A>G|||||||rs2340589||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.7887|0.3926|0.8545|0.8839|0.9891|0.9734||||||||||0.8303|0.4748|1|0.8446|0.983|0.909|0.9931|0.9525|0.9904|0.8574|0.9675|1|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||2/13|ENST00000618323.5:c.610-780A>G|||||||rs2340589||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.7887|0.3926|0.8545|0.8839|0.9891|0.9734||||||||||0.8303|0.4748|1|0.8446|0.983|0.909|0.9931|0.9525|0.9904|0.8574|0.9675|1|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||1/11|ENST00000618779.5:c.73-780A>G|||||||rs2340589||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.7887|0.3926|0.8545|0.8839|0.9891|0.9734||||||||||0.8303|0.4748|1|0.8446|0.983|0.909|0.9931|0.9525|0.9904|0.8574|0.9675|1|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||1/12|ENST00000622503.5:c.73-780A>G|||||||rs2340589||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.7887|0.3926|0.8545|0.8839|0.9891|0.9734||||||||||0.8303|0.4748|1|0.8446|0.983|0.909|0.9931|0.9525|0.9904|0.8574|0.9675|1|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.75:3:0,1:0,1:0,2:0|1:929375_A_G:929375:0,0,1,2 -chr1 929375 . A G . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=3;GERMQ=52;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=84;POPAF=7.3;TLOD=17.52;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||||||||||rs2340589|937|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.7887|0.3926|0.8545|0.8839|0.9891|0.9734||||||||||0.8303|0.4748|1|0.8446|0.983|0.909|0.9931|0.9525|0.9904|0.8574|0.9675|1|gnomADg_AMI|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||2/13|ENST00000342066.8:c.73-780A>G|||||||rs2340589||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.7887|0.3926|0.8545|0.8839|0.9891|0.9734||||||||||0.8303|0.4748|1|0.8446|0.983|0.909|0.9931|0.9525|0.9904|0.8574|0.9675|1|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||2/4|ENST00000437963.5:c.73-780A>G|||||||rs2340589||1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.7887|0.3926|0.8545|0.8839|0.9891|0.9734||||||||||0.8303|0.4748|1|0.8446|0.983|0.909|0.9931|0.9525|0.9904|0.8574|0.9675|1|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||2/13|ENST00000616016.5:c.610-780A>G|||||||rs2340589||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.7887|0.3926|0.8545|0.8839|0.9891|0.9734||||||||||0.8303|0.4748|1|0.8446|0.983|0.909|0.9931|0.9525|0.9904|0.8574|0.9675|1|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||1/10|ENST00000616125.5:c.73-780A>G|||||||rs2340589||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.7887|0.3926|0.8545|0.8839|0.9891|0.9734||||||||||0.8303|0.4748|1|0.8446|0.983|0.909|0.9931|0.9525|0.9904|0.8574|0.9675|1|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||1/12|ENST00000617307.5:c.73-780A>G|||||||rs2340589||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.7887|0.3926|0.8545|0.8839|0.9891|0.9734||||||||||0.8303|0.4748|1|0.8446|0.983|0.909|0.9931|0.9525|0.9904|0.8574|0.9675|1|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||1/9|ENST00000618181.5:c.73-780A>G|||||||rs2340589||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.7887|0.3926|0.8545|0.8839|0.9891|0.9734||||||||||0.8303|0.4748|1|0.8446|0.983|0.909|0.9931|0.9525|0.9904|0.8574|0.9675|1|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||2/13|ENST00000618323.5:c.610-780A>G|||||||rs2340589||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.7887|0.3926|0.8545|0.8839|0.9891|0.9734||||||||||0.8303|0.4748|1|0.8446|0.983|0.909|0.9931|0.9525|0.9904|0.8574|0.9675|1|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||1/11|ENST00000618779.5:c.73-780A>G|||||||rs2340589||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.7887|0.3926|0.8545|0.8839|0.9891|0.9734||||||||||0.8303|0.4748|1|0.8446|0.983|0.909|0.9931|0.9525|0.9904|0.8574|0.9675|1|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||1/12|ENST00000622503.5:c.73-780A>G|||||||rs2340589||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.7887|0.3926|0.8545|0.8839|0.9891|0.9734||||||||||0.8303|0.4748|1|0.8446|0.983|0.909|0.9931|0.9525|0.9904|0.8574|0.9675|1|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,4:0.75:4:0,0:0,2:0,2:0|1:929375_A_G:929375:0,0,2,2 -chr1 929377 . G A . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=3;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=41;POPAF=7.3;TLOD=13.02;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||||||||||rs2340588|935|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.7887|0.3926|0.8545|0.8839|0.9891|0.9734||||||||||0.8303|0.4749|1|0.8447|0.983|0.9094|0.9931|0.9525|0.9904|0.8576|0.9675|1|gnomADg_AMI|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||2/13|ENST00000342066.8:c.73-778G>A|||||||rs2340588||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.7887|0.3926|0.8545|0.8839|0.9891|0.9734||||||||||0.8303|0.4749|1|0.8447|0.983|0.9094|0.9931|0.9525|0.9904|0.8576|0.9675|1|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||2/4|ENST00000437963.5:c.73-778G>A|||||||rs2340588||1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.7887|0.3926|0.8545|0.8839|0.9891|0.9734||||||||||0.8303|0.4749|1|0.8447|0.983|0.9094|0.9931|0.9525|0.9904|0.8576|0.9675|1|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||2/13|ENST00000616016.5:c.610-778G>A|||||||rs2340588||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.7887|0.3926|0.8545|0.8839|0.9891|0.9734||||||||||0.8303|0.4749|1|0.8447|0.983|0.9094|0.9931|0.9525|0.9904|0.8576|0.9675|1|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||1/10|ENST00000616125.5:c.73-778G>A|||||||rs2340588||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.7887|0.3926|0.8545|0.8839|0.9891|0.9734||||||||||0.8303|0.4749|1|0.8447|0.983|0.9094|0.9931|0.9525|0.9904|0.8576|0.9675|1|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||1/12|ENST00000617307.5:c.73-778G>A|||||||rs2340588||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.7887|0.3926|0.8545|0.8839|0.9891|0.9734||||||||||0.8303|0.4749|1|0.8447|0.983|0.9094|0.9931|0.9525|0.9904|0.8576|0.9675|1|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||1/9|ENST00000618181.5:c.73-778G>A|||||||rs2340588||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.7887|0.3926|0.8545|0.8839|0.9891|0.9734||||||||||0.8303|0.4749|1|0.8447|0.983|0.9094|0.9931|0.9525|0.9904|0.8576|0.9675|1|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||2/13|ENST00000618323.5:c.610-778G>A|||||||rs2340588||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.7887|0.3926|0.8545|0.8839|0.9891|0.9734||||||||||0.8303|0.4749|1|0.8447|0.983|0.9094|0.9931|0.9525|0.9904|0.8576|0.9675|1|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||1/11|ENST00000618779.5:c.73-778G>A|||||||rs2340588||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.7887|0.3926|0.8545|0.8839|0.9891|0.9734||||||||||0.8303|0.4749|1|0.8447|0.983|0.9094|0.9931|0.9525|0.9904|0.8576|0.9675|1|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||1/12|ENST00000622503.5:c.73-778G>A|||||||rs2340588||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.7887|0.3926|0.8545|0.8839|0.9891|0.9734||||||||||0.8303|0.4749|1|0.8447|0.983|0.9094|0.9931|0.9525|0.9904|0.8576|0.9675|1|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.75:3:0,1:0,1:0,2:0|1:929375_A_G:929375:0,0,1,2 -chr1 929377 . G A . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=3;GERMQ=52;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=86;POPAF=7.3;TLOD=17.52;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||||||||||rs2340588|935|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.7887|0.3926|0.8545|0.8839|0.9891|0.9734||||||||||0.8303|0.4749|1|0.8447|0.983|0.9094|0.9931|0.9525|0.9904|0.8576|0.9675|1|gnomADg_AMI|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||2/13|ENST00000342066.8:c.73-778G>A|||||||rs2340588||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.7887|0.3926|0.8545|0.8839|0.9891|0.9734||||||||||0.8303|0.4749|1|0.8447|0.983|0.9094|0.9931|0.9525|0.9904|0.8576|0.9675|1|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||2/4|ENST00000437963.5:c.73-778G>A|||||||rs2340588||1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.7887|0.3926|0.8545|0.8839|0.9891|0.9734||||||||||0.8303|0.4749|1|0.8447|0.983|0.9094|0.9931|0.9525|0.9904|0.8576|0.9675|1|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||2/13|ENST00000616016.5:c.610-778G>A|||||||rs2340588||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.7887|0.3926|0.8545|0.8839|0.9891|0.9734||||||||||0.8303|0.4749|1|0.8447|0.983|0.9094|0.9931|0.9525|0.9904|0.8576|0.9675|1|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||1/10|ENST00000616125.5:c.73-778G>A|||||||rs2340588||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.7887|0.3926|0.8545|0.8839|0.9891|0.9734||||||||||0.8303|0.4749|1|0.8447|0.983|0.9094|0.9931|0.9525|0.9904|0.8576|0.9675|1|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||1/12|ENST00000617307.5:c.73-778G>A|||||||rs2340588||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.7887|0.3926|0.8545|0.8839|0.9891|0.9734||||||||||0.8303|0.4749|1|0.8447|0.983|0.9094|0.9931|0.9525|0.9904|0.8576|0.9675|1|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||1/9|ENST00000618181.5:c.73-778G>A|||||||rs2340588||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.7887|0.3926|0.8545|0.8839|0.9891|0.9734||||||||||0.8303|0.4749|1|0.8447|0.983|0.9094|0.9931|0.9525|0.9904|0.8576|0.9675|1|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||2/13|ENST00000618323.5:c.610-778G>A|||||||rs2340588||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.7887|0.3926|0.8545|0.8839|0.9891|0.9734||||||||||0.8303|0.4749|1|0.8447|0.983|0.9094|0.9931|0.9525|0.9904|0.8576|0.9675|1|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||1/11|ENST00000618779.5:c.73-778G>A|||||||rs2340588||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.7887|0.3926|0.8545|0.8839|0.9891|0.9734||||||||||0.8303|0.4749|1|0.8447|0.983|0.9094|0.9931|0.9525|0.9904|0.8576|0.9675|1|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||1/12|ENST00000622503.5:c.73-778G>A|||||||rs2340588||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.7887|0.3926|0.8545|0.8839|0.9891|0.9734||||||||||0.8303|0.4749|1|0.8447|0.983|0.9094|0.9931|0.9525|0.9904|0.8576|0.9675|1|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,4:0.75:4:0,0:0,2:0,2:0|1:929375_A_G:929375:0,0,2,2 -chr1 929558 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C3;DP=6;ECNT=1;GERMQ=58;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=48;POPAF=7.3;TLOD=20.76;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||||||||||rs2340587&COSV59706004|754|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.5126|0.2216|0.598|0.4851|0.7644|0.6145||||||||||0.5968|0.2906|0.5899|0.6034|0.7147|0.5031|0.748|0.7437|0.7552|0.6267|0.6312|0.7644|EUR||0&1|0&1||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||2/13|ENST00000342066.8:c.73-597G>A|||||||rs2340587&COSV59706004||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.5126|0.2216|0.598|0.4851|0.7644|0.6145||||||||||0.5968|0.2906|0.5899|0.6034|0.7147|0.5031|0.748|0.7437|0.7552|0.6267|0.6312|0.7644|EUR||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||2/4|ENST00000437963.5:c.73-597G>A|||||||rs2340587&COSV59706004||1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.5126|0.2216|0.598|0.4851|0.7644|0.6145||||||||||0.5968|0.2906|0.5899|0.6034|0.7147|0.5031|0.748|0.7437|0.7552|0.6267|0.6312|0.7644|EUR||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||2/13|ENST00000616016.5:c.610-597G>A|||||||rs2340587&COSV59706004||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.5126|0.2216|0.598|0.4851|0.7644|0.6145||||||||||0.5968|0.2906|0.5899|0.6034|0.7147|0.5031|0.748|0.7437|0.7552|0.6267|0.6312|0.7644|EUR||0&1|0&1||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||1/10|ENST00000616125.5:c.73-597G>A|||||||rs2340587&COSV59706004||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.5126|0.2216|0.598|0.4851|0.7644|0.6145||||||||||0.5968|0.2906|0.5899|0.6034|0.7147|0.5031|0.748|0.7437|0.7552|0.6267|0.6312|0.7644|EUR||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||1/12|ENST00000617307.5:c.73-597G>A|||||||rs2340587&COSV59706004||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.5126|0.2216|0.598|0.4851|0.7644|0.6145||||||||||0.5968|0.2906|0.5899|0.6034|0.7147|0.5031|0.748|0.7437|0.7552|0.6267|0.6312|0.7644|EUR||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||1/9|ENST00000618181.5:c.73-597G>A|||||||rs2340587&COSV59706004||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.5126|0.2216|0.598|0.4851|0.7644|0.6145||||||||||0.5968|0.2906|0.5899|0.6034|0.7147|0.5031|0.748|0.7437|0.7552|0.6267|0.6312|0.7644|EUR||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||2/13|ENST00000618323.5:c.610-597G>A|||||||rs2340587&COSV59706004||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.5126|0.2216|0.598|0.4851|0.7644|0.6145||||||||||0.5968|0.2906|0.5899|0.6034|0.7147|0.5031|0.748|0.7437|0.7552|0.6267|0.6312|0.7644|EUR||0&1|0&1||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||1/11|ENST00000618779.5:c.73-597G>A|||||||rs2340587&COSV59706004||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.5126|0.2216|0.598|0.4851|0.7644|0.6145||||||||||0.5968|0.2906|0.5899|0.6034|0.7147|0.5031|0.748|0.7437|0.7552|0.6267|0.6312|0.7644|EUR||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||1/12|ENST00000622503.5:c.73-597G>A|||||||rs2340587&COSV59706004||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.5126|0.2216|0.598|0.4851|0.7644|0.6145||||||||||0.5968|0.2906|0.5899|0.6034|0.7147|0.5031|0.748|0.7437|0.7552|0.6267|0.6312|0.7644|EUR||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.8:6:0,0:0,3:0,3:0,0,3,3 -chr1 929839 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=38;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=140;POPAF=7.3;TLOD=3.15;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||||||||||rs75551395|473|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.1627|0.0477|0.2363|0.0744|0.2117|0.3067||||||||||0.172|0.06491|0.378|0.2145|0.2486|0.06802|0.2047|0.1772|0.2158|0.1836|0.2819|0.378|gnomADg_AMI|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||2/13|ENST00000342066.8:c.73-316G>A|||||||rs75551395||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.1627|0.0477|0.2363|0.0744|0.2117|0.3067||||||||||0.172|0.06491|0.378|0.2145|0.2486|0.06802|0.2047|0.1772|0.2158|0.1836|0.2819|0.378|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||2/4|ENST00000437963.5:c.73-316G>A|||||||rs75551395||1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.1627|0.0477|0.2363|0.0744|0.2117|0.3067||||||||||0.172|0.06491|0.378|0.2145|0.2486|0.06802|0.2047|0.1772|0.2158|0.1836|0.2819|0.378|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||2/13|ENST00000616016.5:c.610-316G>A|||||||rs75551395||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.1627|0.0477|0.2363|0.0744|0.2117|0.3067||||||||||0.172|0.06491|0.378|0.2145|0.2486|0.06802|0.2047|0.1772|0.2158|0.1836|0.2819|0.378|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||1/10|ENST00000616125.5:c.73-316G>A|||||||rs75551395||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.1627|0.0477|0.2363|0.0744|0.2117|0.3067||||||||||0.172|0.06491|0.378|0.2145|0.2486|0.06802|0.2047|0.1772|0.2158|0.1836|0.2819|0.378|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||1/12|ENST00000617307.5:c.73-316G>A|||||||rs75551395||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.1627|0.0477|0.2363|0.0744|0.2117|0.3067||||||||||0.172|0.06491|0.378|0.2145|0.2486|0.06802|0.2047|0.1772|0.2158|0.1836|0.2819|0.378|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||1/9|ENST00000618181.5:c.73-316G>A|||||||rs75551395||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.1627|0.0477|0.2363|0.0744|0.2117|0.3067||||||||||0.172|0.06491|0.378|0.2145|0.2486|0.06802|0.2047|0.1772|0.2158|0.1836|0.2819|0.378|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||2/13|ENST00000618323.5:c.610-316G>A|||||||rs75551395||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.1627|0.0477|0.2363|0.0744|0.2117|0.3067||||||||||0.172|0.06491|0.378|0.2145|0.2486|0.06802|0.2047|0.1772|0.2158|0.1836|0.2819|0.378|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||1/11|ENST00000618779.5:c.73-316G>A|||||||rs75551395||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.1627|0.0477|0.2363|0.0744|0.2117|0.3067||||||||||0.172|0.06491|0.378|0.2145|0.2486|0.06802|0.2047|0.1772|0.2158|0.1836|0.2819|0.378|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||1/12|ENST00000622503.5:c.73-316G>A|||||||rs75551395||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.1627|0.0477|0.2363|0.0744|0.2117|0.3067||||||||||0.172|0.06491|0.378|0.2145|0.2486|0.06802|0.2047|0.1772|0.2158|0.1836|0.2819|0.378|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,1:0.5:2:0,0:1,1:1,1:1,0,1,0 -chr1 930939 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=57;POPAF=7.3;TLOD=7.25;SRC=custom;GRP=custom;CSQ=A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||1/11|ENST00000341065.8:c.26-100G>A|||||||rs9988021||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.9535|0.8313|0.9914|0.998|1|0.998||||||||||0.9603|0.8656|1|0.9819|1|0.9994|0.999|0.9747|0.9988|0.9651|0.9969|1|EUR&gnomADg_AMI&gnomADg_ASJ|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||3/13|ENST00000342066.8:c.255-100G>A|||||||rs9988021||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.9535|0.8313|0.9914|0.998|1|0.998||||||||||0.9603|0.8656|1|0.9819|1|0.9994|0.999|0.9747|0.9988|0.9651|0.9969|1|EUR&gnomADg_AMI&gnomADg_ASJ|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||3/4|ENST00000437963.5:c.255-100G>A|||||||rs9988021||1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.9535|0.8313|0.9914|0.998|1|0.998||||||||||0.9603|0.8656|1|0.9819|1|0.9994|0.999|0.9747|0.9988|0.9651|0.9969|1|EUR&gnomADg_AMI&gnomADg_ASJ|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||3/13|ENST00000616016.5:c.792-100G>A|||||||rs9988021||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.9535|0.8313|0.9914|0.998|1|0.998||||||||||0.9603|0.8656|1|0.9819|1|0.9994|0.999|0.9747|0.9988|0.9651|0.9969|1|EUR&gnomADg_AMI&gnomADg_ASJ|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||2/10|ENST00000616125.5:c.255-100G>A|||||||rs9988021||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.9535|0.8313|0.9914|0.998|1|0.998||||||||||0.9603|0.8656|1|0.9819|1|0.9994|0.999|0.9747|0.9988|0.9651|0.9969|1|EUR&gnomADg_AMI&gnomADg_ASJ|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||2/12|ENST00000617307.5:c.255-100G>A|||||||rs9988021||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.9535|0.8313|0.9914|0.998|1|0.998||||||||||0.9603|0.8656|1|0.9819|1|0.9994|0.999|0.9747|0.9988|0.9651|0.9969|1|EUR&gnomADg_AMI&gnomADg_ASJ|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||2/9|ENST00000618181.5:c.254+603G>A|||||||rs9988021||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.9535|0.8313|0.9914|0.998|1|0.998||||||||||0.9603|0.8656|1|0.9819|1|0.9994|0.999|0.9747|0.9988|0.9651|0.9969|1|EUR&gnomADg_AMI&gnomADg_ASJ|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||3/13|ENST00000618323.5:c.792-100G>A|||||||rs9988021||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.9535|0.8313|0.9914|0.998|1|0.998||||||||||0.9603|0.8656|1|0.9819|1|0.9994|0.999|0.9747|0.9988|0.9651|0.9969|1|EUR&gnomADg_AMI&gnomADg_ASJ|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||2/11|ENST00000618779.5:c.255-100G>A|||||||rs9988021||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.9535|0.8313|0.9914|0.998|1|0.998||||||||||0.9603|0.8656|1|0.9819|1|0.9994|0.999|0.9747|0.9988|0.9651|0.9969|1|EUR&gnomADg_AMI&gnomADg_ASJ|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||2/12|ENST00000622503.5:c.255-100G>A|||||||rs9988021||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.9535|0.8313|0.9914|0.998|1|0.998||||||||||0.9603|0.8656|1|0.9819|1|0.9994|0.999|0.9747|0.9988|0.9651|0.9969|1|EUR&gnomADg_AMI&gnomADg_ASJ|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 931513 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=1%2C0|1%2C1;DP=3;ECNT=3;GERMQ=38;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=84;POPAF=7.3;TLOD=6.58;SRC=custom;GRP=custom;CSQ=C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||2/11|ENST00000341065.8:c.76+424T>C|||||||rs2880024||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.3656|0.1021|0.4395|0.3214|0.5785|0.4959||||||||||0.4501|0.1716|0.4484|0.4701|0.6112|0.3431|0.498|0.5759|0.6014|0.4856|0.5116|0.6112|gnomADg_ASJ|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||4/13|ENST00000342066.8:c.305+424T>C|||||||rs2880024||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.3656|0.1021|0.4395|0.3214|0.5785|0.4959||||||||||0.4501|0.1716|0.4484|0.4701|0.6112|0.3431|0.498|0.5759|0.6014|0.4856|0.5116|0.6112|gnomADg_ASJ|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||4/4|ENST00000437963.5:c.305+424T>C|||||||rs2880024||1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.3656|0.1021|0.4395|0.3214|0.5785|0.4959||||||||||0.4501|0.1716|0.4484|0.4701|0.6112|0.3431|0.498|0.5759|0.6014|0.4856|0.5116|0.6112|gnomADg_ASJ|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||4/13|ENST00000616016.5:c.842+424T>C|||||||rs2880024||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.3656|0.1021|0.4395|0.3214|0.5785|0.4959||||||||||0.4501|0.1716|0.4484|0.4701|0.6112|0.3431|0.498|0.5759|0.6014|0.4856|0.5116|0.6112|gnomADg_ASJ|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||3/10|ENST00000616125.5:c.305+424T>C|||||||rs2880024||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.3656|0.1021|0.4395|0.3214|0.5785|0.4959||||||||||0.4501|0.1716|0.4484|0.4701|0.6112|0.3431|0.498|0.5759|0.6014|0.4856|0.5116|0.6112|gnomADg_ASJ|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||3/12|ENST00000617307.5:c.305+424T>C|||||||rs2880024||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.3656|0.1021|0.4395|0.3214|0.5785|0.4959||||||||||0.4501|0.1716|0.4484|0.4701|0.6112|0.3431|0.498|0.5759|0.6014|0.4856|0.5116|0.6112|gnomADg_ASJ|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||2/9|ENST00000618181.5:c.254+1177T>C|||||||rs2880024||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.3656|0.1021|0.4395|0.3214|0.5785|0.4959||||||||||0.4501|0.1716|0.4484|0.4701|0.6112|0.3431|0.498|0.5759|0.6014|0.4856|0.5116|0.6112|gnomADg_ASJ|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||4/13|ENST00000618323.5:c.842+424T>C|||||||rs2880024||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.3656|0.1021|0.4395|0.3214|0.5785|0.4959||||||||||0.4501|0.1716|0.4484|0.4701|0.6112|0.3431|0.498|0.5759|0.6014|0.4856|0.5116|0.6112|gnomADg_ASJ|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||3/11|ENST00000618779.5:c.305+424T>C|||||||rs2880024||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.3656|0.1021|0.4395|0.3214|0.5785|0.4959||||||||||0.4501|0.1716|0.4484|0.4701|0.6112|0.3431|0.498|0.5759|0.6014|0.4856|0.5116|0.6112|gnomADg_ASJ|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||3/12|ENST00000622503.5:c.305+424T>C|||||||rs2880024||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.3656|0.1021|0.4395|0.3214|0.5785|0.4959||||||||||0.4501|0.1716|0.4484|0.4701|0.6112|0.3431|0.498|0.5759|0.6014|0.4856|0.5116|0.6112|gnomADg_ASJ|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,2:0.5:3:0,0:1,1:1,1:1,0,1,1 -chr1 931540 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=3;GERMQ=52;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=114;POPAF=7.3;TLOD=14.23;SRC=custom;GRP=custom;CSQ=G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||2/11|ENST00000341065.8:c.76+451A>G|||||||rs2341361||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.9992|1|1|0.998|1|0.998||||||||||0.9996|0.9993|1|0.9999|1|0.9994|1|1|0.9999|1|0.9973|1|AFR&AMR&EUR&gnomADg_AMI&gnomADg_ASJ&gnomADg_FIN&gnomADg_MID&gnomADg_OTH|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||4/13|ENST00000342066.8:c.305+451A>G|||||||rs2341361||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.9992|1|1|0.998|1|0.998||||||||||0.9996|0.9993|1|0.9999|1|0.9994|1|1|0.9999|1|0.9973|1|AFR&AMR&EUR&gnomADg_AMI&gnomADg_ASJ&gnomADg_FIN&gnomADg_MID&gnomADg_OTH|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||4/4|ENST00000437963.5:c.305+451A>G|||||||rs2341361||1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.9992|1|1|0.998|1|0.998||||||||||0.9996|0.9993|1|0.9999|1|0.9994|1|1|0.9999|1|0.9973|1|AFR&AMR&EUR&gnomADg_AMI&gnomADg_ASJ&gnomADg_FIN&gnomADg_MID&gnomADg_OTH|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||4/13|ENST00000616016.5:c.842+451A>G|||||||rs2341361||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.9992|1|1|0.998|1|0.998||||||||||0.9996|0.9993|1|0.9999|1|0.9994|1|1|0.9999|1|0.9973|1|AFR&AMR&EUR&gnomADg_AMI&gnomADg_ASJ&gnomADg_FIN&gnomADg_MID&gnomADg_OTH|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||3/10|ENST00000616125.5:c.305+451A>G|||||||rs2341361||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.9992|1|1|0.998|1|0.998||||||||||0.9996|0.9993|1|0.9999|1|0.9994|1|1|0.9999|1|0.9973|1|AFR&AMR&EUR&gnomADg_AMI&gnomADg_ASJ&gnomADg_FIN&gnomADg_MID&gnomADg_OTH|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||3/12|ENST00000617307.5:c.305+451A>G|||||||rs2341361||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.9992|1|1|0.998|1|0.998||||||||||0.9996|0.9993|1|0.9999|1|0.9994|1|1|0.9999|1|0.9973|1|AFR&AMR&EUR&gnomADg_AMI&gnomADg_ASJ&gnomADg_FIN&gnomADg_MID&gnomADg_OTH|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||2/9|ENST00000618181.5:c.254+1204A>G|||||||rs2341361||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.9992|1|1|0.998|1|0.998||||||||||0.9996|0.9993|1|0.9999|1|0.9994|1|1|0.9999|1|0.9973|1|AFR&AMR&EUR&gnomADg_AMI&gnomADg_ASJ&gnomADg_FIN&gnomADg_MID&gnomADg_OTH|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||4/13|ENST00000618323.5:c.842+451A>G|||||||rs2341361||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.9992|1|1|0.998|1|0.998||||||||||0.9996|0.9993|1|0.9999|1|0.9994|1|1|0.9999|1|0.9973|1|AFR&AMR&EUR&gnomADg_AMI&gnomADg_ASJ&gnomADg_FIN&gnomADg_MID&gnomADg_OTH|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||3/11|ENST00000618779.5:c.305+451A>G|||||||rs2341361||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.9992|1|1|0.998|1|0.998||||||||||0.9996|0.9993|1|0.9999|1|0.9994|1|1|0.9999|1|0.9973|1|AFR&AMR&EUR&gnomADg_AMI&gnomADg_ASJ&gnomADg_FIN&gnomADg_MID&gnomADg_OTH|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||3/12|ENST00000622503.5:c.305+451A>G|||||||rs2341361||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.9992|1|1|0.998|1|0.998||||||||||0.9996|0.9993|1|0.9999|1|0.9994|1|1|0.9999|1|0.9973|1|AFR&AMR&EUR&gnomADg_AMI&gnomADg_ASJ&gnomADg_FIN&gnomADg_MID&gnomADg_OTH|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 931558 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=2%2C1|2%2C1;DP=6;ECNT=3;GERMQ=37;MBQ=32,32;MFRL=0,0;MMQ=60,60;MPOS=99;POPAF=7.3;TLOD=9.35;SRC=custom;GRP=custom;CSQ=A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||2/11|ENST00000341065.8:c.76+469G>A|||||||rs74047407||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.2788|0.2035|0.2536|0.375|0.2207|0.3589||||||||||0.2363|0.2025|0.4084|0.2503|0.2689|0.3782|0.2414|0.2278|0.2311|0.2385|0.3333|0.4084|gnomADg_AMI|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||4/13|ENST00000342066.8:c.305+469G>A|||||||rs74047407||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.2788|0.2035|0.2536|0.375|0.2207|0.3589||||||||||0.2363|0.2025|0.4084|0.2503|0.2689|0.3782|0.2414|0.2278|0.2311|0.2385|0.3333|0.4084|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||4/4|ENST00000437963.5:c.305+469G>A|||||||rs74047407||1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.2788|0.2035|0.2536|0.375|0.2207|0.3589||||||||||0.2363|0.2025|0.4084|0.2503|0.2689|0.3782|0.2414|0.2278|0.2311|0.2385|0.3333|0.4084|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||4/13|ENST00000616016.5:c.842+469G>A|||||||rs74047407||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.2788|0.2035|0.2536|0.375|0.2207|0.3589||||||||||0.2363|0.2025|0.4084|0.2503|0.2689|0.3782|0.2414|0.2278|0.2311|0.2385|0.3333|0.4084|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||3/10|ENST00000616125.5:c.305+469G>A|||||||rs74047407||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.2788|0.2035|0.2536|0.375|0.2207|0.3589||||||||||0.2363|0.2025|0.4084|0.2503|0.2689|0.3782|0.2414|0.2278|0.2311|0.2385|0.3333|0.4084|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||3/12|ENST00000617307.5:c.305+469G>A|||||||rs74047407||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.2788|0.2035|0.2536|0.375|0.2207|0.3589||||||||||0.2363|0.2025|0.4084|0.2503|0.2689|0.3782|0.2414|0.2278|0.2311|0.2385|0.3333|0.4084|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||2/9|ENST00000618181.5:c.254+1222G>A|||||||rs74047407||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.2788|0.2035|0.2536|0.375|0.2207|0.3589||||||||||0.2363|0.2025|0.4084|0.2503|0.2689|0.3782|0.2414|0.2278|0.2311|0.2385|0.3333|0.4084|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||4/13|ENST00000618323.5:c.842+469G>A|||||||rs74047407||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.2788|0.2035|0.2536|0.375|0.2207|0.3589||||||||||0.2363|0.2025|0.4084|0.2503|0.2689|0.3782|0.2414|0.2278|0.2311|0.2385|0.3333|0.4084|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||3/11|ENST00000618779.5:c.305+469G>A|||||||rs74047407||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.2788|0.2035|0.2536|0.375|0.2207|0.3589||||||||||0.2363|0.2025|0.4084|0.2503|0.2689|0.3782|0.2414|0.2278|0.2311|0.2385|0.3333|0.4084|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||3/12|ENST00000622503.5:c.305+469G>A|||||||rs74047407||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.2788|0.2035|0.2536|0.375|0.2207|0.3589||||||||||0.2363|0.2025|0.4084|0.2503|0.2689|0.3782|0.2414|0.2278|0.2311|0.2385|0.3333|0.4084|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,3:0.5:6:0,0:2,2:2,2:2,1,2,1 -chr1 932204 . A T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=2;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=28;POPAF=7.3;TLOD=3.48;SRC=custom;GRP=custom;CSQ=T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||2/11|ENST00000341065.8:c.76+1115A>T|||||||rs2341360||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.9545|0.8336|0.9928|0.998|1|0.999||||||||||0.9623|0.8715|1|0.9825|1|0.9994|0.999|1|0.9993|0.9666|0.9973|1|EUR&gnomADg_AMI&gnomADg_ASJ&gnomADg_MID|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||4/13|ENST00000342066.8:c.305+1115A>T|||||||rs2341360||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.9545|0.8336|0.9928|0.998|1|0.999||||||||||0.9623|0.8715|1|0.9825|1|0.9994|0.999|1|0.9993|0.9666|0.9973|1|EUR&gnomADg_AMI&gnomADg_ASJ&gnomADg_MID|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||4/4|ENST00000437963.5:c.305+1115A>T|||||||rs2341360||1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.9545|0.8336|0.9928|0.998|1|0.999||||||||||0.9623|0.8715|1|0.9825|1|0.9994|0.999|1|0.9993|0.9666|0.9973|1|EUR&gnomADg_AMI&gnomADg_ASJ&gnomADg_MID|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||4/13|ENST00000616016.5:c.842+1115A>T|||||||rs2341360||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.9545|0.8336|0.9928|0.998|1|0.999||||||||||0.9623|0.8715|1|0.9825|1|0.9994|0.999|1|0.9993|0.9666|0.9973|1|EUR&gnomADg_AMI&gnomADg_ASJ&gnomADg_MID|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||3/10|ENST00000616125.5:c.305+1115A>T|||||||rs2341360||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.9545|0.8336|0.9928|0.998|1|0.999||||||||||0.9623|0.8715|1|0.9825|1|0.9994|0.999|1|0.9993|0.9666|0.9973|1|EUR&gnomADg_AMI&gnomADg_ASJ&gnomADg_MID|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||3/12|ENST00000617307.5:c.305+1115A>T|||||||rs2341360||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.9545|0.8336|0.9928|0.998|1|0.999||||||||||0.9623|0.8715|1|0.9825|1|0.9994|0.999|1|0.9993|0.9666|0.9973|1|EUR&gnomADg_AMI&gnomADg_ASJ&gnomADg_MID|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||2/9|ENST00000618181.5:c.254+1868A>T|||||||rs2341360||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.9545|0.8336|0.9928|0.998|1|0.999||||||||||0.9623|0.8715|1|0.9825|1|0.9994|0.999|1|0.9993|0.9666|0.9973|1|EUR&gnomADg_AMI&gnomADg_ASJ&gnomADg_MID|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||4/13|ENST00000618323.5:c.842+1115A>T|||||||rs2341360||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.9545|0.8336|0.9928|0.998|1|0.999||||||||||0.9623|0.8715|1|0.9825|1|0.9994|0.999|1|0.9993|0.9666|0.9973|1|EUR&gnomADg_AMI&gnomADg_ASJ&gnomADg_MID|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||3/11|ENST00000618779.5:c.305+1115A>T|||||||rs2341360||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.9545|0.8336|0.9928|0.998|1|0.999||||||||||0.9623|0.8715|1|0.9825|1|0.9994|0.999|1|0.9993|0.9666|0.9973|1|EUR&gnomADg_AMI&gnomADg_ASJ&gnomADg_MID|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||3/12|ENST00000622503.5:c.305+1115A>T|||||||rs2341360||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.9545|0.8336|0.9928|0.998|1|0.999||||||||||0.9623|0.8715|1|0.9825|1|0.9994|0.999|1|0.9993|0.9666|0.9973|1|EUR&gnomADg_AMI&gnomADg_ASJ&gnomADg_MID|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164801|open_chromatin_region||||||||||rs2341360||||SNV||||||||||||||||||||0.9545|0.8336|0.9928|0.998|1|0.999||||||||||0.9623|0.8715|1|0.9825|1|0.9994|0.999|1|0.9993|0.9666|0.9973|1|EUR&gnomADg_AMI&gnomADg_ASJ&gnomADg_MID||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 932204 . A T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=3;ECNT=4;GERMQ=47;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=54;POPAF=7.3;TLOD=7.18;SRC=custom;GRP=custom;CSQ=T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||2/11|ENST00000341065.8:c.76+1115A>T|||||||rs2341360||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.9545|0.8336|0.9928|0.998|1|0.999||||||||||0.9623|0.8715|1|0.9825|1|0.9994|0.999|1|0.9993|0.9666|0.9973|1|EUR&gnomADg_AMI&gnomADg_ASJ&gnomADg_MID|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||4/13|ENST00000342066.8:c.305+1115A>T|||||||rs2341360||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.9545|0.8336|0.9928|0.998|1|0.999||||||||||0.9623|0.8715|1|0.9825|1|0.9994|0.999|1|0.9993|0.9666|0.9973|1|EUR&gnomADg_AMI&gnomADg_ASJ&gnomADg_MID|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||4/4|ENST00000437963.5:c.305+1115A>T|||||||rs2341360||1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.9545|0.8336|0.9928|0.998|1|0.999||||||||||0.9623|0.8715|1|0.9825|1|0.9994|0.999|1|0.9993|0.9666|0.9973|1|EUR&gnomADg_AMI&gnomADg_ASJ&gnomADg_MID|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||4/13|ENST00000616016.5:c.842+1115A>T|||||||rs2341360||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.9545|0.8336|0.9928|0.998|1|0.999||||||||||0.9623|0.8715|1|0.9825|1|0.9994|0.999|1|0.9993|0.9666|0.9973|1|EUR&gnomADg_AMI&gnomADg_ASJ&gnomADg_MID|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||3/10|ENST00000616125.5:c.305+1115A>T|||||||rs2341360||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.9545|0.8336|0.9928|0.998|1|0.999||||||||||0.9623|0.8715|1|0.9825|1|0.9994|0.999|1|0.9993|0.9666|0.9973|1|EUR&gnomADg_AMI&gnomADg_ASJ&gnomADg_MID|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||3/12|ENST00000617307.5:c.305+1115A>T|||||||rs2341360||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.9545|0.8336|0.9928|0.998|1|0.999||||||||||0.9623|0.8715|1|0.9825|1|0.9994|0.999|1|0.9993|0.9666|0.9973|1|EUR&gnomADg_AMI&gnomADg_ASJ&gnomADg_MID|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||2/9|ENST00000618181.5:c.254+1868A>T|||||||rs2341360||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.9545|0.8336|0.9928|0.998|1|0.999||||||||||0.9623|0.8715|1|0.9825|1|0.9994|0.999|1|0.9993|0.9666|0.9973|1|EUR&gnomADg_AMI&gnomADg_ASJ&gnomADg_MID|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||4/13|ENST00000618323.5:c.842+1115A>T|||||||rs2341360||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.9545|0.8336|0.9928|0.998|1|0.999||||||||||0.9623|0.8715|1|0.9825|1|0.9994|0.999|1|0.9993|0.9666|0.9973|1|EUR&gnomADg_AMI&gnomADg_ASJ&gnomADg_MID|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||3/11|ENST00000618779.5:c.305+1115A>T|||||||rs2341360||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.9545|0.8336|0.9928|0.998|1|0.999||||||||||0.9623|0.8715|1|0.9825|1|0.9994|0.999|1|0.9993|0.9666|0.9973|1|EUR&gnomADg_AMI&gnomADg_ASJ&gnomADg_MID|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||3/12|ENST00000622503.5:c.305+1115A>T|||||||rs2341360||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.9545|0.8336|0.9928|0.998|1|0.999||||||||||0.9623|0.8715|1|0.9825|1|0.9994|0.999|1|0.9993|0.9666|0.9973|1|EUR&gnomADg_AMI&gnomADg_ASJ&gnomADg_MID|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164801|open_chromatin_region||||||||||rs2341360||||SNV||||||||||||||||||||0.9545|0.8336|0.9928|0.998|1|0.999||||||||||0.9623|0.8715|1|0.9825|1|0.9994|0.999|1|0.9993|0.9666|0.9973|1|EUR&gnomADg_AMI&gnomADg_ASJ&gnomADg_MID||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.684:2:0,0:0,1:0,1:0,0,1,1 -chr1 932227 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=4;GERMQ=47;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=31;POPAF=7.3;TLOD=7.05;SRC=custom;GRP=custom;CSQ=A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||2/11|ENST00000341065.8:c.76+1138G>A|||||||||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||||||||||||||||||||||||||||||||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||4/13|ENST00000342066.8:c.305+1138G>A|||||||||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||4/4|ENST00000437963.5:c.305+1138G>A|||||||||1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||4/13|ENST00000616016.5:c.842+1138G>A|||||||||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||||||||||||||||||||||||||||||||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||3/10|ENST00000616125.5:c.305+1138G>A|||||||||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||3/12|ENST00000617307.5:c.305+1138G>A|||||||||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||2/9|ENST00000618181.5:c.254+1891G>A|||||||||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||4/13|ENST00000618323.5:c.842+1138G>A|||||||||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||||||||||||||||||||||||||||||||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||3/11|ENST00000618779.5:c.305+1138G>A|||||||||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||3/12|ENST00000622503.5:c.305+1138G>A|||||||||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164801|open_chromatin_region||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 932255 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|2%2C1;DP=5;ECNT=2;GERMQ=37;MBQ=33,31;MFRL=0,0;MMQ=60,60;MPOS=101;POPAF=7.3;TLOD=9.65;SRC=custom;GRP=custom;CSQ=T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||2/11|ENST00000341065.8:c.76+1166C>T|||||||rs76964081||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.1597|0.0401|0.2392|0.0734|0.2087|0.3037||||||||||0.1718|0.06203|0.3794|0.2208|0.2488|0.0738|0.2046|0.1835|0.2152|0.1821|0.2812|0.3794|gnomADg_AMI|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||4/13|ENST00000342066.8:c.305+1166C>T|||||||rs76964081||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.1597|0.0401|0.2392|0.0734|0.2087|0.3037||||||||||0.1718|0.06203|0.3794|0.2208|0.2488|0.0738|0.2046|0.1835|0.2152|0.1821|0.2812|0.3794|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||4/4|ENST00000437963.5:c.305+1166C>T|||||||rs76964081||1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.1597|0.0401|0.2392|0.0734|0.2087|0.3037||||||||||0.1718|0.06203|0.3794|0.2208|0.2488|0.0738|0.2046|0.1835|0.2152|0.1821|0.2812|0.3794|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||4/13|ENST00000616016.5:c.842+1166C>T|||||||rs76964081||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.1597|0.0401|0.2392|0.0734|0.2087|0.3037||||||||||0.1718|0.06203|0.3794|0.2208|0.2488|0.0738|0.2046|0.1835|0.2152|0.1821|0.2812|0.3794|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||3/10|ENST00000616125.5:c.305+1166C>T|||||||rs76964081||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.1597|0.0401|0.2392|0.0734|0.2087|0.3037||||||||||0.1718|0.06203|0.3794|0.2208|0.2488|0.0738|0.2046|0.1835|0.2152|0.1821|0.2812|0.3794|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||3/12|ENST00000617307.5:c.305+1166C>T|||||||rs76964081||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.1597|0.0401|0.2392|0.0734|0.2087|0.3037||||||||||0.1718|0.06203|0.3794|0.2208|0.2488|0.0738|0.2046|0.1835|0.2152|0.1821|0.2812|0.3794|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||2/9|ENST00000618181.5:c.254+1919C>T|||||||rs76964081||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.1597|0.0401|0.2392|0.0734|0.2087|0.3037||||||||||0.1718|0.06203|0.3794|0.2208|0.2488|0.0738|0.2046|0.1835|0.2152|0.1821|0.2812|0.3794|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||4/13|ENST00000618323.5:c.842+1166C>T|||||||rs76964081||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.1597|0.0401|0.2392|0.0734|0.2087|0.3037||||||||||0.1718|0.06203|0.3794|0.2208|0.2488|0.0738|0.2046|0.1835|0.2152|0.1821|0.2812|0.3794|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||3/11|ENST00000618779.5:c.305+1166C>T|||||||rs76964081||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.1597|0.0401|0.2392|0.0734|0.2087|0.3037||||||||||0.1718|0.06203|0.3794|0.2208|0.2488|0.0738|0.2046|0.1835|0.2152|0.1821|0.2812|0.3794|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||3/12|ENST00000622503.5:c.305+1166C>T|||||||rs76964081||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.1597|0.0401|0.2392|0.0734|0.2087|0.3037||||||||||0.1718|0.06203|0.3794|0.2208|0.2488|0.0738|0.2046|0.1835|0.2152|0.1821|0.2812|0.3794|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164801|open_chromatin_region||||||||||rs76964081||||SNV||||||||||||||||||||0.1597|0.0401|0.2392|0.0734|0.2087|0.3037||||||||||0.1718|0.06203|0.3794|0.2208|0.2488|0.0738|0.2046|0.1835|0.2152|0.1821|0.2812|0.3794|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,3:0.6:5:0,0:1,2:1,2:1,1,2,1 -chr1 932255 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=4;GERMQ=52;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=14;POPAF=7.3;TLOD=14.39;SRC=custom;GRP=custom;CSQ=T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||2/11|ENST00000341065.8:c.76+1166C>T|||||||rs76964081||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.1597|0.0401|0.2392|0.0734|0.2087|0.3037||||||||||0.1718|0.06203|0.3794|0.2208|0.2488|0.0738|0.2046|0.1835|0.2152|0.1821|0.2812|0.3794|gnomADg_AMI|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||4/13|ENST00000342066.8:c.305+1166C>T|||||||rs76964081||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.1597|0.0401|0.2392|0.0734|0.2087|0.3037||||||||||0.1718|0.06203|0.3794|0.2208|0.2488|0.0738|0.2046|0.1835|0.2152|0.1821|0.2812|0.3794|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||4/4|ENST00000437963.5:c.305+1166C>T|||||||rs76964081||1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.1597|0.0401|0.2392|0.0734|0.2087|0.3037||||||||||0.1718|0.06203|0.3794|0.2208|0.2488|0.0738|0.2046|0.1835|0.2152|0.1821|0.2812|0.3794|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||4/13|ENST00000616016.5:c.842+1166C>T|||||||rs76964081||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.1597|0.0401|0.2392|0.0734|0.2087|0.3037||||||||||0.1718|0.06203|0.3794|0.2208|0.2488|0.0738|0.2046|0.1835|0.2152|0.1821|0.2812|0.3794|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||3/10|ENST00000616125.5:c.305+1166C>T|||||||rs76964081||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.1597|0.0401|0.2392|0.0734|0.2087|0.3037||||||||||0.1718|0.06203|0.3794|0.2208|0.2488|0.0738|0.2046|0.1835|0.2152|0.1821|0.2812|0.3794|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||3/12|ENST00000617307.5:c.305+1166C>T|||||||rs76964081||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.1597|0.0401|0.2392|0.0734|0.2087|0.3037||||||||||0.1718|0.06203|0.3794|0.2208|0.2488|0.0738|0.2046|0.1835|0.2152|0.1821|0.2812|0.3794|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||2/9|ENST00000618181.5:c.254+1919C>T|||||||rs76964081||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.1597|0.0401|0.2392|0.0734|0.2087|0.3037||||||||||0.1718|0.06203|0.3794|0.2208|0.2488|0.0738|0.2046|0.1835|0.2152|0.1821|0.2812|0.3794|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||4/13|ENST00000618323.5:c.842+1166C>T|||||||rs76964081||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.1597|0.0401|0.2392|0.0734|0.2087|0.3037||||||||||0.1718|0.06203|0.3794|0.2208|0.2488|0.0738|0.2046|0.1835|0.2152|0.1821|0.2812|0.3794|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||3/11|ENST00000618779.5:c.305+1166C>T|||||||rs76964081||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.1597|0.0401|0.2392|0.0734|0.2087|0.3037||||||||||0.1718|0.06203|0.3794|0.2208|0.2488|0.0738|0.2046|0.1835|0.2152|0.1821|0.2812|0.3794|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||3/12|ENST00000622503.5:c.305+1166C>T|||||||rs76964081||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.1597|0.0401|0.2392|0.0734|0.2087|0.3037||||||||||0.1718|0.06203|0.3794|0.2208|0.2488|0.0738|0.2046|0.1835|0.2152|0.1821|0.2812|0.3794|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164801|open_chromatin_region||||||||||rs76964081||||SNV||||||||||||||||||||0.1597|0.0401|0.2392|0.0734|0.2087|0.3037||||||||||0.1718|0.06203|0.3794|0.2208|0.2488|0.0738|0.2046|0.1835|0.2152|0.1821|0.2812|0.3794|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 932338 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=4;GERMQ=47;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=107;POPAF=7.3;TLOD=7.25;SRC=custom;GRP=custom;CSQ=A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||2/11|ENST00000341065.8:c.76+1249G>A|||||||rs1426462032||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1|||||||||||||||||||||1.972e-05|7.242e-05|0|0|0|0|0|0|0|0|0|7.242e-05|gnomADg_AFR|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||4/13|ENST00000342066.8:c.305+1249G>A|||||||rs1426462032||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1|||||||||||||||||||||1.972e-05|7.242e-05|0|0|0|0|0|0|0|0|0|7.242e-05|gnomADg_AFR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||4/4|ENST00000437963.5:c.305+1249G>A|||||||rs1426462032||1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1|||||||||||||||||||||1.972e-05|7.242e-05|0|0|0|0|0|0|0|0|0|7.242e-05|gnomADg_AFR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||4/13|ENST00000616016.5:c.842+1249G>A|||||||rs1426462032||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1|||||||||||||||||||||1.972e-05|7.242e-05|0|0|0|0|0|0|0|0|0|7.242e-05|gnomADg_AFR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||3/10|ENST00000616125.5:c.305+1249G>A|||||||rs1426462032||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1|||||||||||||||||||||1.972e-05|7.242e-05|0|0|0|0|0|0|0|0|0|7.242e-05|gnomADg_AFR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||3/12|ENST00000617307.5:c.305+1249G>A|||||||rs1426462032||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1|||||||||||||||||||||1.972e-05|7.242e-05|0|0|0|0|0|0|0|0|0|7.242e-05|gnomADg_AFR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||2/9|ENST00000618181.5:c.254+2002G>A|||||||rs1426462032||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1|||||||||||||||||||||1.972e-05|7.242e-05|0|0|0|0|0|0|0|0|0|7.242e-05|gnomADg_AFR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||4/13|ENST00000618323.5:c.842+1249G>A|||||||rs1426462032||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1|||||||||||||||||||||1.972e-05|7.242e-05|0|0|0|0|0|0|0|0|0|7.242e-05|gnomADg_AFR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||3/11|ENST00000618779.5:c.305+1249G>A|||||||rs1426462032||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1|||||||||||||||||||||1.972e-05|7.242e-05|0|0|0|0|0|0|0|0|0|7.242e-05|gnomADg_AFR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||3/12|ENST00000622503.5:c.305+1249G>A|||||||rs1426462032||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1|||||||||||||||||||||1.972e-05|7.242e-05|0|0|0|0|0|0|0|0|0|7.242e-05|gnomADg_AFR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164801|open_chromatin_region||||||||||rs1426462032||||SNV|||||||||||||||||||||||||||||||||||1.972e-05|7.242e-05|0|0|0|0|0|0|0|0|0|7.242e-05|gnomADg_AFR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 932512 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C1|1%2C1;DP=3;ECNT=1;GERMQ=38;MBQ=31,33;MFRL=0,0;MMQ=60,60;MPOS=104;POPAF=7.3;TLOD=6.45;SRC=custom;GRP=custom;CSQ=A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||2/11|ENST00000341065.8:c.76+1423G>A|||||||rs369483837||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.0018|0|0|0|0.007|0.002||||||||||0.003436|0.0006513|0|0.003925|0.01671|0|0.001506|0.009494|0.004689|0.005736|0.005795|0.01671|gnomADg_ASJ|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||4/13|ENST00000342066.8:c.305+1423G>A|||||||rs369483837||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.0018|0|0|0|0.007|0.002||||||||||0.003436|0.0006513|0|0.003925|0.01671|0|0.001506|0.009494|0.004689|0.005736|0.005795|0.01671|gnomADg_ASJ|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||4/4|ENST00000437963.5:c.305+1423G>A|||||||rs369483837||1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.0018|0|0|0|0.007|0.002||||||||||0.003436|0.0006513|0|0.003925|0.01671|0|0.001506|0.009494|0.004689|0.005736|0.005795|0.01671|gnomADg_ASJ|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||4/13|ENST00000616016.5:c.842+1423G>A|||||||rs369483837||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.0018|0|0|0|0.007|0.002||||||||||0.003436|0.0006513|0|0.003925|0.01671|0|0.001506|0.009494|0.004689|0.005736|0.005795|0.01671|gnomADg_ASJ|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||3/10|ENST00000616125.5:c.305+1423G>A|||||||rs369483837||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.0018|0|0|0|0.007|0.002||||||||||0.003436|0.0006513|0|0.003925|0.01671|0|0.001506|0.009494|0.004689|0.005736|0.005795|0.01671|gnomADg_ASJ|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||3/12|ENST00000617307.5:c.305+1423G>A|||||||rs369483837||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.0018|0|0|0|0.007|0.002||||||||||0.003436|0.0006513|0|0.003925|0.01671|0|0.001506|0.009494|0.004689|0.005736|0.005795|0.01671|gnomADg_ASJ|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||2/9|ENST00000618181.5:c.254+2176G>A|||||||rs369483837||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.0018|0|0|0|0.007|0.002||||||||||0.003436|0.0006513|0|0.003925|0.01671|0|0.001506|0.009494|0.004689|0.005736|0.005795|0.01671|gnomADg_ASJ|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||4/13|ENST00000618323.5:c.842+1423G>A|||||||rs369483837||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.0018|0|0|0|0.007|0.002||||||||||0.003436|0.0006513|0|0.003925|0.01671|0|0.001506|0.009494|0.004689|0.005736|0.005795|0.01671|gnomADg_ASJ|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||3/11|ENST00000618779.5:c.305+1423G>A|||||||rs369483837||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.0018|0|0|0|0.007|0.002||||||||||0.003436|0.0006513|0|0.003925|0.01671|0|0.001506|0.009494|0.004689|0.005736|0.005795|0.01671|gnomADg_ASJ|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||3/12|ENST00000622503.5:c.305+1423G>A|||||||rs369483837||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.0018|0|0|0|0.007|0.002||||||||||0.003436|0.0006513|0|0.003925|0.01671|0|0.001506|0.009494|0.004689|0.005736|0.005795|0.01671|gnomADg_ASJ|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,2:0.5:3:1,0:0,1:1,1:0,1,1,1 -chr1 932512 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C1;DP=4;ECNT=1;GERMQ=37;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=5;POPAF=7.3;TLOD=6.68;SRC=custom;GRP=custom;CSQ=A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||2/11|ENST00000341065.8:c.76+1423G>A|||||||rs369483837||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.0018|0|0|0|0.007|0.002||||||||||0.003436|0.0006513|0|0.003925|0.01671|0|0.001506|0.009494|0.004689|0.005736|0.005795|0.01671|gnomADg_ASJ|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||4/13|ENST00000342066.8:c.305+1423G>A|||||||rs369483837||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.0018|0|0|0|0.007|0.002||||||||||0.003436|0.0006513|0|0.003925|0.01671|0|0.001506|0.009494|0.004689|0.005736|0.005795|0.01671|gnomADg_ASJ|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||4/4|ENST00000437963.5:c.305+1423G>A|||||||rs369483837||1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.0018|0|0|0|0.007|0.002||||||||||0.003436|0.0006513|0|0.003925|0.01671|0|0.001506|0.009494|0.004689|0.005736|0.005795|0.01671|gnomADg_ASJ|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||4/13|ENST00000616016.5:c.842+1423G>A|||||||rs369483837||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.0018|0|0|0|0.007|0.002||||||||||0.003436|0.0006513|0|0.003925|0.01671|0|0.001506|0.009494|0.004689|0.005736|0.005795|0.01671|gnomADg_ASJ|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||3/10|ENST00000616125.5:c.305+1423G>A|||||||rs369483837||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.0018|0|0|0|0.007|0.002||||||||||0.003436|0.0006513|0|0.003925|0.01671|0|0.001506|0.009494|0.004689|0.005736|0.005795|0.01671|gnomADg_ASJ|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||3/12|ENST00000617307.5:c.305+1423G>A|||||||rs369483837||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.0018|0|0|0|0.007|0.002||||||||||0.003436|0.0006513|0|0.003925|0.01671|0|0.001506|0.009494|0.004689|0.005736|0.005795|0.01671|gnomADg_ASJ|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||2/9|ENST00000618181.5:c.254+2176G>A|||||||rs369483837||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.0018|0|0|0|0.007|0.002||||||||||0.003436|0.0006513|0|0.003925|0.01671|0|0.001506|0.009494|0.004689|0.005736|0.005795|0.01671|gnomADg_ASJ|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||4/13|ENST00000618323.5:c.842+1423G>A|||||||rs369483837||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.0018|0|0|0|0.007|0.002||||||||||0.003436|0.0006513|0|0.003925|0.01671|0|0.001506|0.009494|0.004689|0.005736|0.005795|0.01671|gnomADg_ASJ|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||3/11|ENST00000618779.5:c.305+1423G>A|||||||rs369483837||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.0018|0|0|0|0.007|0.002||||||||||0.003436|0.0006513|0|0.003925|0.01671|0|0.001506|0.009494|0.004689|0.005736|0.005795|0.01671|gnomADg_ASJ|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||3/12|ENST00000622503.5:c.305+1423G>A|||||||rs369483837||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.0018|0|0|0|0.007|0.002||||||||||0.003436|0.0006513|0|0.003925|0.01671|0|0.001506|0.009494|0.004689|0.005736|0.005795|0.01671|gnomADg_ASJ|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.5:4:0,0:1,1:1,1:1,1,1,1 -chr1 933411 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=1;GERMQ=50;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=82;POPAF=7.3;TLOD=10.85;SRC=custom;GRP=custom;CSQ=T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||2/11|ENST00000341065.8:c.76+2322C>T|||||||rs13303003||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.8876|0.6362|0.951|0.997|0.9652|0.9898||||||||||0.8921|0.6834|0.9956|0.9424|0.9842|0.9994|0.9415|0.9842|0.9781|0.9054|0.9897|0.9994|gnomADg_EAS|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||4/13|ENST00000342066.8:c.305+2322C>T|||||||rs13303003||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.8876|0.6362|0.951|0.997|0.9652|0.9898||||||||||0.8921|0.6834|0.9956|0.9424|0.9842|0.9994|0.9415|0.9842|0.9781|0.9054|0.9897|0.9994|gnomADg_EAS|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||4/4|ENST00000437963.5:c.305+2322C>T|||||||rs13303003||1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.8876|0.6362|0.951|0.997|0.9652|0.9898||||||||||0.8921|0.6834|0.9956|0.9424|0.9842|0.9994|0.9415|0.9842|0.9781|0.9054|0.9897|0.9994|gnomADg_EAS|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||4/13|ENST00000616016.5:c.842+2322C>T|||||||rs13303003||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.8876|0.6362|0.951|0.997|0.9652|0.9898||||||||||0.8921|0.6834|0.9956|0.9424|0.9842|0.9994|0.9415|0.9842|0.9781|0.9054|0.9897|0.9994|gnomADg_EAS|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||3/10|ENST00000616125.5:c.305+2322C>T|||||||rs13303003||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.8876|0.6362|0.951|0.997|0.9652|0.9898||||||||||0.8921|0.6834|0.9956|0.9424|0.9842|0.9994|0.9415|0.9842|0.9781|0.9054|0.9897|0.9994|gnomADg_EAS|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||3/12|ENST00000617307.5:c.305+2322C>T|||||||rs13303003||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.8876|0.6362|0.951|0.997|0.9652|0.9898||||||||||0.8921|0.6834|0.9956|0.9424|0.9842|0.9994|0.9415|0.9842|0.9781|0.9054|0.9897|0.9994|gnomADg_EAS|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||2/9|ENST00000618181.5:c.255-2361C>T|||||||rs13303003||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.8876|0.6362|0.951|0.997|0.9652|0.9898||||||||||0.8921|0.6834|0.9956|0.9424|0.9842|0.9994|0.9415|0.9842|0.9781|0.9054|0.9897|0.9994|gnomADg_EAS|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||4/13|ENST00000618323.5:c.842+2322C>T|||||||rs13303003||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.8876|0.6362|0.951|0.997|0.9652|0.9898||||||||||0.8921|0.6834|0.9956|0.9424|0.9842|0.9994|0.9415|0.9842|0.9781|0.9054|0.9897|0.9994|gnomADg_EAS|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||3/11|ENST00000618779.5:c.305+2322C>T|||||||rs13303003||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.8876|0.6362|0.951|0.997|0.9652|0.9898||||||||||0.8921|0.6834|0.9956|0.9424|0.9842|0.9994|0.9415|0.9842|0.9781|0.9054|0.9897|0.9994|gnomADg_EAS|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||3/12|ENST00000622503.5:c.305+2322C>T|||||||rs13303003||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.8876|0.6362|0.951|0.997|0.9652|0.9898||||||||||0.8921|0.6834|0.9956|0.9424|0.9842|0.9994|0.9415|0.9842|0.9781|0.9054|0.9897|0.9994|gnomADg_EAS|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918368|enhancer||||||||||rs13303003||||SNV||||||||||||||||||||0.8876|0.6362|0.951|0.997|0.9652|0.9898||||||||||0.8921|0.6834|0.9956|0.9424|0.9842|0.9994|0.9415|0.9842|0.9781|0.9054|0.9897|0.9994|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,1:0,1:0,2:0,0,1,2 -chr1 933511 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=2;GERMQ=46;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=73;POPAF=7.3;TLOD=7.55;SRC=custom;GRP=custom;CSQ=G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||2/11|ENST00000341065.8:c.77-2261A>G|||||||rs13303066||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.9631|0.8691|0.9914|0.998|0.998|0.998||||||||||0.9662|0.8872|1|0.9838|0.9977|0.9994|0.999|0.9937|0.9981|0.9689|0.9969|1|gnomADg_AMI|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||4/13|ENST00000342066.8:c.306-2261A>G|||||||rs13303066||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.9631|0.8691|0.9914|0.998|0.998|0.998||||||||||0.9662|0.8872|1|0.9838|0.9977|0.9994|0.999|0.9937|0.9981|0.9689|0.9969|1|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||4/4|ENST00000437963.5:c.306-2261A>G|||||||rs13303066||1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.9631|0.8691|0.9914|0.998|0.998|0.998||||||||||0.9662|0.8872|1|0.9838|0.9977|0.9994|0.999|0.9937|0.9981|0.9689|0.9969|1|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||4/13|ENST00000616016.5:c.843-2261A>G|||||||rs13303066||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.9631|0.8691|0.9914|0.998|0.998|0.998||||||||||0.9662|0.8872|1|0.9838|0.9977|0.9994|0.999|0.9937|0.9981|0.9689|0.9969|1|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||3/10|ENST00000616125.5:c.306-2261A>G|||||||rs13303066||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.9631|0.8691|0.9914|0.998|0.998|0.998||||||||||0.9662|0.8872|1|0.9838|0.9977|0.9994|0.999|0.9937|0.9981|0.9689|0.9969|1|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||3/12|ENST00000617307.5:c.306-2261A>G|||||||rs13303066||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.9631|0.8691|0.9914|0.998|0.998|0.998||||||||||0.9662|0.8872|1|0.9838|0.9977|0.9994|0.999|0.9937|0.9981|0.9689|0.9969|1|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||2/9|ENST00000618181.5:c.255-2261A>G|||||||rs13303066||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.9631|0.8691|0.9914|0.998|0.998|0.998||||||||||0.9662|0.8872|1|0.9838|0.9977|0.9994|0.999|0.9937|0.9981|0.9689|0.9969|1|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||4/13|ENST00000618323.5:c.843-2261A>G|||||||rs13303066||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.9631|0.8691|0.9914|0.998|0.998|0.998||||||||||0.9662|0.8872|1|0.9838|0.9977|0.9994|0.999|0.9937|0.9981|0.9689|0.9969|1|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||3/11|ENST00000618779.5:c.306-2261A>G|||||||rs13303066||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.9631|0.8691|0.9914|0.998|0.998|0.998||||||||||0.9662|0.8872|1|0.9838|0.9977|0.9994|0.999|0.9937|0.9981|0.9689|0.9969|1|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||3/12|ENST00000622503.5:c.306-2261A>G|||||||rs13303066||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.9631|0.8691|0.9914|0.998|0.998|0.998||||||||||0.9662|0.8872|1|0.9838|0.9977|0.9994|0.999|0.9937|0.9981|0.9689|0.9969|1|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918368|enhancer||||||||||rs13303066||||SNV||||||||||||||||||||0.9631|0.8691|0.9914|0.998|0.998|0.998||||||||||0.9662|0.8872|1|0.9838|0.9977|0.9994|0.999|0.9937|0.9981|0.9689|0.9969|1|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 933511 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=97;POPAF=7.3;TLOD=7.55;SRC=custom;GRP=custom;CSQ=G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||2/11|ENST00000341065.8:c.77-2261A>G|||||||rs13303066||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.9631|0.8691|0.9914|0.998|0.998|0.998||||||||||0.9662|0.8872|1|0.9838|0.9977|0.9994|0.999|0.9937|0.9981|0.9689|0.9969|1|gnomADg_AMI|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||4/13|ENST00000342066.8:c.306-2261A>G|||||||rs13303066||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.9631|0.8691|0.9914|0.998|0.998|0.998||||||||||0.9662|0.8872|1|0.9838|0.9977|0.9994|0.999|0.9937|0.9981|0.9689|0.9969|1|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||4/4|ENST00000437963.5:c.306-2261A>G|||||||rs13303066||1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.9631|0.8691|0.9914|0.998|0.998|0.998||||||||||0.9662|0.8872|1|0.9838|0.9977|0.9994|0.999|0.9937|0.9981|0.9689|0.9969|1|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||4/13|ENST00000616016.5:c.843-2261A>G|||||||rs13303066||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.9631|0.8691|0.9914|0.998|0.998|0.998||||||||||0.9662|0.8872|1|0.9838|0.9977|0.9994|0.999|0.9937|0.9981|0.9689|0.9969|1|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||3/10|ENST00000616125.5:c.306-2261A>G|||||||rs13303066||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.9631|0.8691|0.9914|0.998|0.998|0.998||||||||||0.9662|0.8872|1|0.9838|0.9977|0.9994|0.999|0.9937|0.9981|0.9689|0.9969|1|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||3/12|ENST00000617307.5:c.306-2261A>G|||||||rs13303066||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.9631|0.8691|0.9914|0.998|0.998|0.998||||||||||0.9662|0.8872|1|0.9838|0.9977|0.9994|0.999|0.9937|0.9981|0.9689|0.9969|1|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||2/9|ENST00000618181.5:c.255-2261A>G|||||||rs13303066||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.9631|0.8691|0.9914|0.998|0.998|0.998||||||||||0.9662|0.8872|1|0.9838|0.9977|0.9994|0.999|0.9937|0.9981|0.9689|0.9969|1|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||4/13|ENST00000618323.5:c.843-2261A>G|||||||rs13303066||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.9631|0.8691|0.9914|0.998|0.998|0.998||||||||||0.9662|0.8872|1|0.9838|0.9977|0.9994|0.999|0.9937|0.9981|0.9689|0.9969|1|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||3/11|ENST00000618779.5:c.306-2261A>G|||||||rs13303066||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.9631|0.8691|0.9914|0.998|0.998|0.998||||||||||0.9662|0.8872|1|0.9838|0.9977|0.9994|0.999|0.9937|0.9981|0.9689|0.9969|1|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||3/12|ENST00000622503.5:c.306-2261A>G|||||||rs13303066||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.9631|0.8691|0.9914|0.998|0.998|0.998||||||||||0.9662|0.8872|1|0.9838|0.9977|0.9994|0.999|0.9937|0.9981|0.9689|0.9969|1|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918368|enhancer||||||||||rs13303066||||SNV||||||||||||||||||||0.9631|0.8691|0.9914|0.998|0.998|0.998||||||||||0.9662|0.8872|1|0.9838|0.9977|0.9994|0.999|0.9937|0.9981|0.9689|0.9969|1|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 933923 . C T . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=4;GERMQ=47;MBQ=0,30;MFRL=0,0;MMQ=60,60;MPOS=90;POPAF=7.3;TLOD=8.7;SRC=custom;GRP=custom;CSQ=T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||2/11|ENST00000341065.8:c.77-1849C>T|||||||rs113171913||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.1773|0.0439|0.2493|0.0744|0.2773|0.3098||||||||||0.07447|0.02212|0.2095|0.09812|0.1228|0.01339|0.1736|0.085|0.09874|0.07563|0.1499|0.3098|SAS|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||4/13|ENST00000342066.8:c.306-1849C>T|||||||rs113171913||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.1773|0.0439|0.2493|0.0744|0.2773|0.3098||||||||||0.07447|0.02212|0.2095|0.09812|0.1228|0.01339|0.1736|0.085|0.09874|0.07563|0.1499|0.3098|SAS|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||4/4|ENST00000437963.5:c.306-1849C>T|||||||rs113171913||1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.1773|0.0439|0.2493|0.0744|0.2773|0.3098||||||||||0.07447|0.02212|0.2095|0.09812|0.1228|0.01339|0.1736|0.085|0.09874|0.07563|0.1499|0.3098|SAS|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||4/13|ENST00000616016.5:c.843-1849C>T|||||||rs113171913||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.1773|0.0439|0.2493|0.0744|0.2773|0.3098||||||||||0.07447|0.02212|0.2095|0.09812|0.1228|0.01339|0.1736|0.085|0.09874|0.07563|0.1499|0.3098|SAS|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||3/10|ENST00000616125.5:c.306-1849C>T|||||||rs113171913||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.1773|0.0439|0.2493|0.0744|0.2773|0.3098||||||||||0.07447|0.02212|0.2095|0.09812|0.1228|0.01339|0.1736|0.085|0.09874|0.07563|0.1499|0.3098|SAS|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||3/12|ENST00000617307.5:c.306-1849C>T|||||||rs113171913||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.1773|0.0439|0.2493|0.0744|0.2773|0.3098||||||||||0.07447|0.02212|0.2095|0.09812|0.1228|0.01339|0.1736|0.085|0.09874|0.07563|0.1499|0.3098|SAS|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||2/9|ENST00000618181.5:c.255-1849C>T|||||||rs113171913||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.1773|0.0439|0.2493|0.0744|0.2773|0.3098||||||||||0.07447|0.02212|0.2095|0.09812|0.1228|0.01339|0.1736|0.085|0.09874|0.07563|0.1499|0.3098|SAS|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||4/13|ENST00000618323.5:c.843-1849C>T|||||||rs113171913||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.1773|0.0439|0.2493|0.0744|0.2773|0.3098||||||||||0.07447|0.02212|0.2095|0.09812|0.1228|0.01339|0.1736|0.085|0.09874|0.07563|0.1499|0.3098|SAS|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||3/11|ENST00000618779.5:c.306-1849C>T|||||||rs113171913||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.1773|0.0439|0.2493|0.0744|0.2773|0.3098||||||||||0.07447|0.02212|0.2095|0.09812|0.1228|0.01339|0.1736|0.085|0.09874|0.07563|0.1499|0.3098|SAS|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||3/12|ENST00000622503.5:c.306-1849C>T|||||||rs113171913||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.1773|0.0439|0.2493|0.0744|0.2773|0.3098||||||||||0.07447|0.02212|0.2095|0.09812|0.1228|0.01339|0.1736|0.085|0.09874|0.07563|0.1499|0.3098|SAS|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918368|enhancer||||||||||rs113171913||||SNV||||||||||||||||||||0.1773|0.0439|0.2493|0.0744|0.2773|0.3098||||||||||0.07447|0.02212|0.2095|0.09812|0.1228|0.01339|0.1736|0.085|0.09874|0.07563|0.1499|0.3098|SAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,2:0.667:2:0,0:0,1:0,1:0|1:933923_C_T:933923:0,0,1,1 -chr1 933943 . T C . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=4;GERMQ=47;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=110;POPAF=7.3;TLOD=8.7;SRC=custom;GRP=custom;CSQ=C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||2/11|ENST00000341065.8:c.77-1829T>C|||||||rs13303207||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.9698|0.8926|0.9928|0.998|1|0.998||||||||||0.9547|0.827|1|0.9765|1|0.9991|0.998|1|0.9986|0.9598|0.994|1|EUR&gnomADg_AMI&gnomADg_ASJ&gnomADg_MID|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||4/13|ENST00000342066.8:c.306-1829T>C|||||||rs13303207||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.9698|0.8926|0.9928|0.998|1|0.998||||||||||0.9547|0.827|1|0.9765|1|0.9991|0.998|1|0.9986|0.9598|0.994|1|EUR&gnomADg_AMI&gnomADg_ASJ&gnomADg_MID|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||4/4|ENST00000437963.5:c.306-1829T>C|||||||rs13303207||1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.9698|0.8926|0.9928|0.998|1|0.998||||||||||0.9547|0.827|1|0.9765|1|0.9991|0.998|1|0.9986|0.9598|0.994|1|EUR&gnomADg_AMI&gnomADg_ASJ&gnomADg_MID|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||4/13|ENST00000616016.5:c.843-1829T>C|||||||rs13303207||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.9698|0.8926|0.9928|0.998|1|0.998||||||||||0.9547|0.827|1|0.9765|1|0.9991|0.998|1|0.9986|0.9598|0.994|1|EUR&gnomADg_AMI&gnomADg_ASJ&gnomADg_MID|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||3/10|ENST00000616125.5:c.306-1829T>C|||||||rs13303207||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.9698|0.8926|0.9928|0.998|1|0.998||||||||||0.9547|0.827|1|0.9765|1|0.9991|0.998|1|0.9986|0.9598|0.994|1|EUR&gnomADg_AMI&gnomADg_ASJ&gnomADg_MID|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||3/12|ENST00000617307.5:c.306-1829T>C|||||||rs13303207||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.9698|0.8926|0.9928|0.998|1|0.998||||||||||0.9547|0.827|1|0.9765|1|0.9991|0.998|1|0.9986|0.9598|0.994|1|EUR&gnomADg_AMI&gnomADg_ASJ&gnomADg_MID|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||2/9|ENST00000618181.5:c.255-1829T>C|||||||rs13303207||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.9698|0.8926|0.9928|0.998|1|0.998||||||||||0.9547|0.827|1|0.9765|1|0.9991|0.998|1|0.9986|0.9598|0.994|1|EUR&gnomADg_AMI&gnomADg_ASJ&gnomADg_MID|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||4/13|ENST00000618323.5:c.843-1829T>C|||||||rs13303207||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.9698|0.8926|0.9928|0.998|1|0.998||||||||||0.9547|0.827|1|0.9765|1|0.9991|0.998|1|0.9986|0.9598|0.994|1|EUR&gnomADg_AMI&gnomADg_ASJ&gnomADg_MID|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||3/11|ENST00000618779.5:c.306-1829T>C|||||||rs13303207||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.9698|0.8926|0.9928|0.998|1|0.998||||||||||0.9547|0.827|1|0.9765|1|0.9991|0.998|1|0.9986|0.9598|0.994|1|EUR&gnomADg_AMI&gnomADg_ASJ&gnomADg_MID|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||3/12|ENST00000622503.5:c.306-1829T>C|||||||rs13303207||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.9698|0.8926|0.9928|0.998|1|0.998||||||||||0.9547|0.827|1|0.9765|1|0.9991|0.998|1|0.9986|0.9598|0.994|1|EUR&gnomADg_AMI&gnomADg_ASJ&gnomADg_MID|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918368|enhancer||||||||||rs13303207||||SNV||||||||||||||||||||0.9698|0.8926|0.9928|0.998|1|0.998||||||||||0.9547|0.827|1|0.9765|1|0.9991|0.998|1|0.9986|0.9598|0.994|1|EUR&gnomADg_AMI&gnomADg_ASJ&gnomADg_MID||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,2:0.667:2:0,0:0,1:0,1:0|1:933923_C_T:933923:0,0,1,1 -chr1 933989 . G T . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=4;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=134;POPAF=7.3;TLOD=8.7;SRC=custom;GRP=custom;CSQ=T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||2/11|ENST00000341065.8:c.77-1783G>T|||||||rs13303328&COSV59703945||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.9609|0.8699|0.9899|0.9911|0.997|0.9949||||||||||0.9529|0.7899|1|0.9737|1|0.9968|0.9966|1|0.9974|0.9501|0.9911|1|gnomADg_AMI&gnomADg_ASJ&gnomADg_MID||0&1|0&1||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||4/13|ENST00000342066.8:c.306-1783G>T|||||||rs13303328&COSV59703945||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.9609|0.8699|0.9899|0.9911|0.997|0.9949||||||||||0.9529|0.7899|1|0.9737|1|0.9968|0.9966|1|0.9974|0.9501|0.9911|1|gnomADg_AMI&gnomADg_ASJ&gnomADg_MID||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||4/4|ENST00000437963.5:c.306-1783G>T|||||||rs13303328&COSV59703945||1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.9609|0.8699|0.9899|0.9911|0.997|0.9949||||||||||0.9529|0.7899|1|0.9737|1|0.9968|0.9966|1|0.9974|0.9501|0.9911|1|gnomADg_AMI&gnomADg_ASJ&gnomADg_MID||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||4/13|ENST00000616016.5:c.843-1783G>T|||||||rs13303328&COSV59703945||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.9609|0.8699|0.9899|0.9911|0.997|0.9949||||||||||0.9529|0.7899|1|0.9737|1|0.9968|0.9966|1|0.9974|0.9501|0.9911|1|gnomADg_AMI&gnomADg_ASJ&gnomADg_MID||0&1|0&1||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||3/10|ENST00000616125.5:c.306-1783G>T|||||||rs13303328&COSV59703945||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.9609|0.8699|0.9899|0.9911|0.997|0.9949||||||||||0.9529|0.7899|1|0.9737|1|0.9968|0.9966|1|0.9974|0.9501|0.9911|1|gnomADg_AMI&gnomADg_ASJ&gnomADg_MID||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||3/12|ENST00000617307.5:c.306-1783G>T|||||||rs13303328&COSV59703945||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.9609|0.8699|0.9899|0.9911|0.997|0.9949||||||||||0.9529|0.7899|1|0.9737|1|0.9968|0.9966|1|0.9974|0.9501|0.9911|1|gnomADg_AMI&gnomADg_ASJ&gnomADg_MID||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||2/9|ENST00000618181.5:c.255-1783G>T|||||||rs13303328&COSV59703945||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.9609|0.8699|0.9899|0.9911|0.997|0.9949||||||||||0.9529|0.7899|1|0.9737|1|0.9968|0.9966|1|0.9974|0.9501|0.9911|1|gnomADg_AMI&gnomADg_ASJ&gnomADg_MID||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||4/13|ENST00000618323.5:c.843-1783G>T|||||||rs13303328&COSV59703945||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.9609|0.8699|0.9899|0.9911|0.997|0.9949||||||||||0.9529|0.7899|1|0.9737|1|0.9968|0.9966|1|0.9974|0.9501|0.9911|1|gnomADg_AMI&gnomADg_ASJ&gnomADg_MID||0&1|0&1||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||3/11|ENST00000618779.5:c.306-1783G>T|||||||rs13303328&COSV59703945||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.9609|0.8699|0.9899|0.9911|0.997|0.9949||||||||||0.9529|0.7899|1|0.9737|1|0.9968|0.9966|1|0.9974|0.9501|0.9911|1|gnomADg_AMI&gnomADg_ASJ&gnomADg_MID||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||3/12|ENST00000622503.5:c.306-1783G>T|||||||rs13303328&COSV59703945||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.9609|0.8699|0.9899|0.9911|0.997|0.9949||||||||||0.9529|0.7899|1|0.9737|1|0.9968|0.9966|1|0.9974|0.9501|0.9911|1|gnomADg_AMI&gnomADg_ASJ&gnomADg_MID||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918368|enhancer||||||||||rs13303328&COSV59703945||||SNV||||||||||||||||||||0.9609|0.8699|0.9899|0.9911|0.997|0.9949||||||||||0.9529|0.7899|1|0.9737|1|0.9968|0.9966|1|0.9974|0.9501|0.9911|1|gnomADg_AMI&gnomADg_ASJ&gnomADg_MID||0&1|0&1|||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,0:0,0:0,1:0|1:933923_C_T:933923:0,0,0,1 -chr1 933993 . G C . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=4;GERMQ=44;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=138;POPAF=7.3;TLOD=8.7;SRC=custom;GRP=custom;CSQ=C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||2/11|ENST00000341065.8:c.77-1779G>C|||||||rs13303330||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.9609|0.8699|0.9899|0.9911|0.997|0.9949||||||||||0.9505|0.7802|1|0.9696|1|0.9968|0.9976|1|0.9979|0.9422|0.9936|1|gnomADg_AMI&gnomADg_ASJ&gnomADg_MID|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||4/13|ENST00000342066.8:c.306-1779G>C|||||||rs13303330||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.9609|0.8699|0.9899|0.9911|0.997|0.9949||||||||||0.9505|0.7802|1|0.9696|1|0.9968|0.9976|1|0.9979|0.9422|0.9936|1|gnomADg_AMI&gnomADg_ASJ&gnomADg_MID|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||4/4|ENST00000437963.5:c.306-1779G>C|||||||rs13303330||1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.9609|0.8699|0.9899|0.9911|0.997|0.9949||||||||||0.9505|0.7802|1|0.9696|1|0.9968|0.9976|1|0.9979|0.9422|0.9936|1|gnomADg_AMI&gnomADg_ASJ&gnomADg_MID|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||4/13|ENST00000616016.5:c.843-1779G>C|||||||rs13303330||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.9609|0.8699|0.9899|0.9911|0.997|0.9949||||||||||0.9505|0.7802|1|0.9696|1|0.9968|0.9976|1|0.9979|0.9422|0.9936|1|gnomADg_AMI&gnomADg_ASJ&gnomADg_MID|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||3/10|ENST00000616125.5:c.306-1779G>C|||||||rs13303330||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.9609|0.8699|0.9899|0.9911|0.997|0.9949||||||||||0.9505|0.7802|1|0.9696|1|0.9968|0.9976|1|0.9979|0.9422|0.9936|1|gnomADg_AMI&gnomADg_ASJ&gnomADg_MID|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||3/12|ENST00000617307.5:c.306-1779G>C|||||||rs13303330||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.9609|0.8699|0.9899|0.9911|0.997|0.9949||||||||||0.9505|0.7802|1|0.9696|1|0.9968|0.9976|1|0.9979|0.9422|0.9936|1|gnomADg_AMI&gnomADg_ASJ&gnomADg_MID|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||2/9|ENST00000618181.5:c.255-1779G>C|||||||rs13303330||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.9609|0.8699|0.9899|0.9911|0.997|0.9949||||||||||0.9505|0.7802|1|0.9696|1|0.9968|0.9976|1|0.9979|0.9422|0.9936|1|gnomADg_AMI&gnomADg_ASJ&gnomADg_MID|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||4/13|ENST00000618323.5:c.843-1779G>C|||||||rs13303330||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.9609|0.8699|0.9899|0.9911|0.997|0.9949||||||||||0.9505|0.7802|1|0.9696|1|0.9968|0.9976|1|0.9979|0.9422|0.9936|1|gnomADg_AMI&gnomADg_ASJ&gnomADg_MID|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||3/11|ENST00000618779.5:c.306-1779G>C|||||||rs13303330||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.9609|0.8699|0.9899|0.9911|0.997|0.9949||||||||||0.9505|0.7802|1|0.9696|1|0.9968|0.9976|1|0.9979|0.9422|0.9936|1|gnomADg_AMI&gnomADg_ASJ&gnomADg_MID|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||3/12|ENST00000622503.5:c.306-1779G>C|||||||rs13303330||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.9609|0.8699|0.9899|0.9911|0.997|0.9949||||||||||0.9505|0.7802|1|0.9696|1|0.9968|0.9976|1|0.9979|0.9422|0.9936|1|gnomADg_AMI&gnomADg_ASJ&gnomADg_MID|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918368|enhancer||||||||||rs13303330||||SNV||||||||||||||||||||0.9609|0.8699|0.9899|0.9911|0.997|0.9949||||||||||0.9505|0.7802|1|0.9696|1|0.9968|0.9976|1|0.9979|0.9422|0.9936|1|gnomADg_AMI&gnomADg_ASJ&gnomADg_MID||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,0:0,0:0,1:0|1:933923_C_T:933923:0,0,0,1 -chr1 935062 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=30;POPAF=7.3;TLOD=7.35;SRC=custom;GRP=custom;CSQ=T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||2/11|ENST00000341065.8:c.77-710C>T|||||||||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||||||||||||||||||||||||||||||||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||4/13|ENST00000342066.8:c.306-710C>T|||||||||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||4/4|ENST00000437963.5:c.306-710C>T|||||||||1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,T|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000455979|protein_coding|||||||||||4213|1|cds_start_NF|SNV|HGNC|HGNC:28706||||2|||ENSP00000412228||H7C3J6.55|UPI000155D479||1||||||||||||||||||||||||||||||||||||||||||||XALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVRRWGVRSGSPDHSWAESSGWVCDSPHQAISLQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||4/13|ENST00000616016.5:c.843-710C>T|||||||||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||||||||||||||||||||||||||||||||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||3/10|ENST00000616125.5:c.306-710C>T|||||||||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||3/12|ENST00000617307.5:c.306-710C>T|||||||||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||2/9|ENST00000618181.5:c.255-710C>T|||||||||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||4/13|ENST00000618323.5:c.843-710C>T|||||||||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||||||||||||||||||||||||||||||||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||3/11|ENST00000618779.5:c.306-710C>T|||||||||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||3/12|ENST00000622503.5:c.306-710C>T|||||||||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918369|enhancer||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 936972 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=1;GERMQ=52;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=98;POPAF=7.3;TLOD=14.73;SRC=custom;GRP=custom;CSQ=C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||3/11|ENST00000341065.8:c.201+1076G>C|||||||rs1806780||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.3520|0.4955|0.3905|0.2321|0.2803|0.3282||||||||||0.3417|0.4645|0.4167|0.3786|0.3045|0.206|0.3145|0.269|0.2761|0.3211|0.3294|0.4955|AFR|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||5/13|ENST00000342066.8:c.430+1076G>C|||||||rs1806780||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.3520|0.4955|0.3905|0.2321|0.2803|0.3282||||||||||0.3417|0.4645|0.4167|0.3786|0.3045|0.206|0.3145|0.269|0.2761|0.3211|0.3294|0.4955|AFR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||||||||||rs1806780|1179|1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.3520|0.4955|0.3905|0.2321|0.2803|0.3282||||||||||0.3417|0.4645|0.4167|0.3786|0.3045|0.206|0.3145|0.269|0.2761|0.3211|0.3294|0.4955|AFR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,C|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000455979|protein_coding||||||||||rs1806780|2303|1|cds_start_NF|SNV|HGNC|HGNC:28706||||2|||ENSP00000412228||H7C3J6.55|UPI000155D479||1||||||0.3520|0.4955|0.3905|0.2321|0.2803|0.3282||||||||||0.3417|0.4645|0.4167|0.3786|0.3045|0.206|0.3145|0.269|0.2761|0.3211|0.3294|0.4955|AFR|||||||||||XALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVRRWGVRSGSPDHSWAESSGWVCDSPHQAISLQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000474461|retained_intron||||||||||rs1806780|4104|1||SNV|HGNC|HGNC:28706||||5||||||||1||||||0.3520|0.4955|0.3905|0.2321|0.2803|0.3282||||||||||0.3417|0.4645|0.4167|0.3786|0.3045|0.206|0.3145|0.269|0.2761|0.3211|0.3294|0.4955|AFR|||||||||||||,C|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000478729|protein_coding_CDS_not_defined||||||||||rs1806780|3374|1||SNV|HGNC|HGNC:28706||||5||||||||1||||||0.3520|0.4955|0.3905|0.2321|0.2803|0.3282||||||||||0.3417|0.4645|0.4167|0.3786|0.3045|0.206|0.3145|0.269|0.2761|0.3211|0.3294|0.4955|AFR|||||||||||||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||5/13|ENST00000616016.5:c.967+1076G>C|||||||rs1806780||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.3520|0.4955|0.3905|0.2321|0.2803|0.3282||||||||||0.3417|0.4645|0.4167|0.3786|0.3045|0.206|0.3145|0.269|0.2761|0.3211|0.3294|0.4955|AFR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||4/10|ENST00000616125.5:c.430+1076G>C|||||||rs1806780||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.3520|0.4955|0.3905|0.2321|0.2803|0.3282||||||||||0.3417|0.4645|0.4167|0.3786|0.3045|0.206|0.3145|0.269|0.2761|0.3211|0.3294|0.4955|AFR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||4/12|ENST00000617307.5:c.430+1076G>C|||||||rs1806780||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.3520|0.4955|0.3905|0.2321|0.2803|0.3282||||||||||0.3417|0.4645|0.4167|0.3786|0.3045|0.206|0.3145|0.269|0.2761|0.3211|0.3294|0.4955|AFR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||3/9|ENST00000618181.5:c.379+1076G>C|||||||rs1806780||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.3520|0.4955|0.3905|0.2321|0.2803|0.3282||||||||||0.3417|0.4645|0.4167|0.3786|0.3045|0.206|0.3145|0.269|0.2761|0.3211|0.3294|0.4955|AFR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||5/13|ENST00000618323.5:c.967+1076G>C|||||||rs1806780||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.3520|0.4955|0.3905|0.2321|0.2803|0.3282||||||||||0.3417|0.4645|0.4167|0.3786|0.3045|0.206|0.3145|0.269|0.2761|0.3211|0.3294|0.4955|AFR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||4/11|ENST00000618779.5:c.430+1076G>C|||||||rs1806780||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.3520|0.4955|0.3905|0.2321|0.2803|0.3282||||||||||0.3417|0.4645|0.4167|0.3786|0.3045|0.206|0.3145|0.269|0.2761|0.3211|0.3294|0.4955|AFR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||4/12|ENST00000622503.5:c.430+1076G>C|||||||rs1806780||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.3520|0.4955|0.3905|0.2321|0.2803|0.3282||||||||||0.3417|0.4645|0.4167|0.3786|0.3045|0.206|0.3145|0.269|0.2761|0.3211|0.3294|0.4955|AFR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 938222 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=3;POPAF=7.3;TLOD=7.05;SRC=custom;GRP=custom;CSQ=A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||3/11|ENST00000341065.8:c.202-818G>A|||||||||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||||||||||||||||||||||||||||||||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||5/13|ENST00000342066.8:c.431-818G>A|||||||||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding|||||||||||2429|1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000455979|protein_coding|||||||||||1053|1|cds_start_NF|SNV|HGNC|HGNC:28706||||2|||ENSP00000412228||H7C3J6.55|UPI000155D479||1||||||||||||||||||||||||||||||||||||||||||||XALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVRRWGVRSGSPDHSWAESSGWVCDSPHQAISLQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000464948|retained_intron|||||||||||3944|1||SNV|HGNC|HGNC:28706||||2||||||||1||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000466827|retained_intron|||||||||||3881|1||SNV|HGNC|HGNC:28706||||3||||||||1||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000474461|retained_intron|||||||||||2854|1||SNV|HGNC|HGNC:28706||||5||||||||1||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000478729|protein_coding_CDS_not_defined|||||||||||2124|1||SNV|HGNC|HGNC:28706||||5||||||||1||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||5/13|ENST00000616016.5:c.968-818G>A|||||||||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||||||||||||||||||||||||||||||||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||4/10|ENST00000616125.5:c.431-818G>A|||||||||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||4/12|ENST00000617307.5:c.431-818G>A|||||||||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||3/9|ENST00000618181.5:c.380-818G>A|||||||||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||5/13|ENST00000618323.5:c.968-818G>A|||||||||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||||||||||||||||||||||||||||||||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||4/11|ENST00000618779.5:c.431-818G>A|||||||||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||4/12|ENST00000622503.5:c.431-818G>A|||||||||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344437|CTCF_binding_site||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 938650 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=147;POPAF=7.3;TLOD=3.28;SRC=custom;GRP=custom;CSQ=A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||3/11|ENST00000341065.8:c.202-390G>A|||||||rs553044462||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.0002|0|0|0.001|0|0||||||||||6.571e-06|0|0|0|0|0.0001925|0|0|0|0|0|0.001|EAS|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||5/13|ENST00000342066.8:c.431-390G>A|||||||rs553044462||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.0002|0|0|0.001|0|0||||||||||6.571e-06|0|0|0|0|0.0001925|0|0|0|0|0|0.001|EAS|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||||||||||rs553044462|2857|1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.0002|0|0|0.001|0|0||||||||||6.571e-06|0|0|0|0|0.0001925|0|0|0|0|0|0.001|EAS|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000455979|protein_coding||||||||||rs553044462|625|1|cds_start_NF|SNV|HGNC|HGNC:28706||||2|||ENSP00000412228||H7C3J6.55|UPI000155D479||1||||||0.0002|0|0|0.001|0|0||||||||||6.571e-06|0|0|0|0|0.0001925|0|0|0|0|0|0.001|EAS|||||||||||XALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVRRWGVRSGSPDHSWAESSGWVCDSPHQAISLQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000464948|retained_intron||||||||||rs553044462|3516|1||SNV|HGNC|HGNC:28706||||2||||||||1||||||0.0002|0|0|0.001|0|0||||||||||6.571e-06|0|0|0|0|0.0001925|0|0|0|0|0|0.001|EAS|||||||||||||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000466827|retained_intron||||||||||rs553044462|3453|1||SNV|HGNC|HGNC:28706||||3||||||||1||||||0.0002|0|0|0.001|0|0||||||||||6.571e-06|0|0|0|0|0.0001925|0|0|0|0|0|0.001|EAS|||||||||||||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000474461|retained_intron||||||||||rs553044462|2426|1||SNV|HGNC|HGNC:28706||||5||||||||1||||||0.0002|0|0|0.001|0|0||||||||||6.571e-06|0|0|0|0|0.0001925|0|0|0|0|0|0.001|EAS|||||||||||||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000478729|protein_coding_CDS_not_defined||||||||||rs553044462|1696|1||SNV|HGNC|HGNC:28706||||5||||||||1||||||0.0002|0|0|0.001|0|0||||||||||6.571e-06|0|0|0|0|0.0001925|0|0|0|0|0|0.001|EAS|||||||||||||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||5/13|ENST00000616016.5:c.968-390G>A|||||||rs553044462||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.0002|0|0|0.001|0|0||||||||||6.571e-06|0|0|0|0|0.0001925|0|0|0|0|0|0.001|EAS|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||4/10|ENST00000616125.5:c.431-390G>A|||||||rs553044462||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.0002|0|0|0.001|0|0||||||||||6.571e-06|0|0|0|0|0.0001925|0|0|0|0|0|0.001|EAS|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||4/12|ENST00000617307.5:c.431-390G>A|||||||rs553044462||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.0002|0|0|0.001|0|0||||||||||6.571e-06|0|0|0|0|0.0001925|0|0|0|0|0|0.001|EAS|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||3/9|ENST00000618181.5:c.380-390G>A|||||||rs553044462||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.0002|0|0|0.001|0|0||||||||||6.571e-06|0|0|0|0|0.0001925|0|0|0|0|0|0.001|EAS|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||5/13|ENST00000618323.5:c.968-390G>A|||||||rs553044462||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.0002|0|0|0.001|0|0||||||||||6.571e-06|0|0|0|0|0.0001925|0|0|0|0|0|0.001|EAS|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||4/11|ENST00000618779.5:c.431-390G>A|||||||rs553044462||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.0002|0|0|0.001|0|0||||||||||6.571e-06|0|0|0|0|0.0001925|0|0|0|0|0|0.001|EAS|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||4/12|ENST00000622503.5:c.431-390G>A|||||||rs553044462||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.0002|0|0|0.001|0|0||||||||||6.571e-06|0|0|0|0|0.0001925|0|0|0|0|0|0.001|EAS|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344437|CTCF_binding_site||||||||||rs553044462||||SNV||||||||||||||||||||0.0002|0|0|0.001|0|0||||||||||6.571e-06|0|0|0|0|0.0001925|0|0|0|0|0|0.001|EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 939038 . A C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=19;POPAF=7.3;TLOD=7.15;SRC=custom;GRP=custom;CSQ=C|splice_acceptor_variant|HIGH|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||3/11|ENST00000341065.8:c.202-2A>C|||||||||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||||||||||||||||||||||||||||||||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|splice_acceptor_variant|HIGH|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||5/13|ENST00000342066.8:c.431-2A>C|||||||||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding|||||||||||3245|1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,C|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000455979|protein_coding|||||||||||237|1|cds_start_NF|SNV|HGNC|HGNC:28706||||2|||ENSP00000412228||H7C3J6.55|UPI000155D479||1||||||||||||||||||||||||||||||||||||||||||||XALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVRRWGVRSGSPDHSWAESSGWVCDSPHQAISLQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000464948|retained_intron|||||||||||3128|1||SNV|HGNC|HGNC:28706||||2||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000466827|retained_intron|||||||||||3065|1||SNV|HGNC|HGNC:28706||||3||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000474461|retained_intron|||||||||||2038|1||SNV|HGNC|HGNC:28706||||5||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000478729|protein_coding_CDS_not_defined|||||||||||1308|1||SNV|HGNC|HGNC:28706||||5||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|splice_acceptor_variant|HIGH|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||5/13|ENST00000616016.5:c.968-2A>C|||||||||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||||||||||||||||||||||||||||||||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|splice_acceptor_variant|HIGH|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||4/10|ENST00000616125.5:c.431-2A>C|||||||||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|splice_acceptor_variant|HIGH|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||4/12|ENST00000617307.5:c.431-2A>C|||||||||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|splice_acceptor_variant|HIGH|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||3/9|ENST00000618181.5:c.380-2A>C|||||||||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|splice_acceptor_variant|HIGH|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||5/13|ENST00000618323.5:c.968-2A>C|||||||||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||||||||||||||||||||||||||||||||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|splice_acceptor_variant|HIGH|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||4/11|ENST00000618779.5:c.431-2A>C|||||||||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|splice_acceptor_variant|HIGH|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||4/12|ENST00000622503.5:c.431-2A>C|||||||||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344437|CTCF_binding_site||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 939038 . A C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C4;DP=6;ECNT=1;GERMQ=58;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=70;POPAF=7.3;TLOD=21.58;SRC=custom;GRP=custom;CSQ=C|splice_acceptor_variant|HIGH|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||3/11|ENST00000341065.8:c.202-2A>C|||||||||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||||||||||||||||||||||||||||||||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|splice_acceptor_variant|HIGH|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||5/13|ENST00000342066.8:c.431-2A>C|||||||||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding|||||||||||3245|1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,C|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000455979|protein_coding|||||||||||237|1|cds_start_NF|SNV|HGNC|HGNC:28706||||2|||ENSP00000412228||H7C3J6.55|UPI000155D479||1||||||||||||||||||||||||||||||||||||||||||||XALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVRRWGVRSGSPDHSWAESSGWVCDSPHQAISLQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000464948|retained_intron|||||||||||3128|1||SNV|HGNC|HGNC:28706||||2||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000466827|retained_intron|||||||||||3065|1||SNV|HGNC|HGNC:28706||||3||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000474461|retained_intron|||||||||||2038|1||SNV|HGNC|HGNC:28706||||5||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000478729|protein_coding_CDS_not_defined|||||||||||1308|1||SNV|HGNC|HGNC:28706||||5||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|splice_acceptor_variant|HIGH|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||5/13|ENST00000616016.5:c.968-2A>C|||||||||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||||||||||||||||||||||||||||||||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|splice_acceptor_variant|HIGH|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||4/10|ENST00000616125.5:c.431-2A>C|||||||||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|splice_acceptor_variant|HIGH|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||4/12|ENST00000617307.5:c.431-2A>C|||||||||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|splice_acceptor_variant|HIGH|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||3/9|ENST00000618181.5:c.380-2A>C|||||||||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|splice_acceptor_variant|HIGH|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||5/13|ENST00000618323.5:c.968-2A>C|||||||||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||||||||||||||||||||||||||||||||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|splice_acceptor_variant|HIGH|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||4/11|ENST00000618779.5:c.431-2A>C|||||||||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|splice_acceptor_variant|HIGH|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||4/12|ENST00000622503.5:c.431-2A>C|||||||||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344437|CTCF_binding_site||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.857:6:0,3:0,2:0,5:0,0,2,4 -chr1 939864 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C2|1%2C1;DP=6;ECNT=1;GERMQ=39;MBQ=35,31;MFRL=0,0;MMQ=60,60;MPOS=49;POPAF=7.3;TLOD=5.97;SRC=custom;GRP=custom;CSQ=A|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding|||||||||||4339|-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||||||||||||||||||||||||||||||||||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||5/11|ENST00000341065.8:c.429+452G>A|||||||||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||||||||||||||||||||||||||||||||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||7/13|ENST00000342066.8:c.706+404G>A|||||||||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding|||||||||||4071|1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000455979|protein_coding||1/6|ENST00000455979.1:c.186+404G>A|||||||||1|cds_start_NF|SNV|HGNC|HGNC:28706||||2|||ENSP00000412228||H7C3J6.55|UPI000155D479||1||||||||||||||||||||||||||||||||||||||||||||XALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVRRWGVRSGSPDHSWAESSGWVCDSPHQAISLQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000464948|retained_intron|||||||||||2302|1||SNV|HGNC|HGNC:28706||||2||||||||1||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000466827|retained_intron|||||||||||2239|1||SNV|HGNC|HGNC:28706||||3||||||||1||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000474461|retained_intron|||||||||||1212|1||SNV|HGNC|HGNC:28706||||5||||||||1||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron|||||||||||4341|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000478729|protein_coding_CDS_not_defined|||||||||||482|1||SNV|HGNC|HGNC:28706||||5||||||||1||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000483767|retained_intron|||||||||||4340|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||7/13|ENST00000616016.5:c.1195+452G>A|||||||||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||||||||||||||||||||||||||||||||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||6/10|ENST00000616125.5:c.661+452G>A|||||||||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||6/12|ENST00000617307.5:c.709+404G>A|||||||||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||5/9|ENST00000618181.5:c.610+452G>A|||||||||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||7/13|ENST00000618323.5:c.1198+452G>A|||||||||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||||||||||||||||||||||||||||||||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||5/11|ENST00000618779.5:c.520+735G>A|||||||||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||6/12|ENST00000622503.5:c.709+404G>A|||||||||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,2:0.4:6:0,0:2,1:2,1:2,2,1,1 -chr1 940263 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=44;POPAF=7.3;TLOD=7.25;SRC=custom;GRP=custom;CSQ=G|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||||||||||rs7411115|3940|-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||0.7424|0.612|0.7147|0.7143|0.8569|0.8497||||||||||0.7584|0.6095|0.8085|0.7502|0.8376|0.7444|0.8587|0.8182|0.8262|0.7794|0.823|0.8587|gnomADg_FIN|||||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||5/11|ENST00000341065.8:c.429+851C>G|||||||rs7411115||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.7424|0.612|0.7147|0.7143|0.8569|0.8497||||||||||0.7584|0.6095|0.8085|0.7502|0.8376|0.7444|0.8587|0.8182|0.8262|0.7794|0.823|0.8587|gnomADg_FIN|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||7/13|ENST00000342066.8:c.706+803C>G|||||||rs7411115||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.7424|0.612|0.7147|0.7143|0.8569|0.8497||||||||||0.7584|0.6095|0.8085|0.7502|0.8376|0.7444|0.8587|0.8182|0.8262|0.7794|0.823|0.8587|gnomADg_FIN|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||||||||||rs7411115|4470|1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.7424|0.612|0.7147|0.7143|0.8569|0.8497||||||||||0.7584|0.6095|0.8085|0.7502|0.8376|0.7444|0.8587|0.8182|0.8262|0.7794|0.823|0.8587|gnomADg_FIN|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000455979|protein_coding||1/6|ENST00000455979.1:c.186+803C>G|||||||rs7411115||1|cds_start_NF|SNV|HGNC|HGNC:28706||||2|||ENSP00000412228||H7C3J6.55|UPI000155D479||1||||||0.7424|0.612|0.7147|0.7143|0.8569|0.8497||||||||||0.7584|0.6095|0.8085|0.7502|0.8376|0.7444|0.8587|0.8182|0.8262|0.7794|0.823|0.8587|gnomADg_FIN|||||||||||XALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVRRWGVRSGSPDHSWAESSGWVCDSPHQAISLQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000464948|retained_intron||||||||||rs7411115|1903|1||SNV|HGNC|HGNC:28706||||2||||||||1||||||0.7424|0.612|0.7147|0.7143|0.8569|0.8497||||||||||0.7584|0.6095|0.8085|0.7502|0.8376|0.7444|0.8587|0.8182|0.8262|0.7794|0.823|0.8587|gnomADg_FIN|||||||||||||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000466827|retained_intron||||||||||rs7411115|1840|1||SNV|HGNC|HGNC:28706||||3||||||||1||||||0.7424|0.612|0.7147|0.7143|0.8569|0.8497||||||||||0.7584|0.6095|0.8085|0.7502|0.8376|0.7444|0.8587|0.8182|0.8262|0.7794|0.823|0.8587|gnomADg_FIN|||||||||||||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000474461|retained_intron||||||||||rs7411115|813|1||SNV|HGNC|HGNC:28706||||5||||||||1||||||0.7424|0.612|0.7147|0.7143|0.8569|0.8497||||||||||0.7584|0.6095|0.8085|0.7502|0.8376|0.7444|0.8587|0.8182|0.8262|0.7794|0.823|0.8587|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron||||||||||rs7411115|3942|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.7424|0.612|0.7147|0.7143|0.8569|0.8497||||||||||0.7584|0.6095|0.8085|0.7502|0.8376|0.7444|0.8587|0.8182|0.8262|0.7794|0.823|0.8587|gnomADg_FIN|||||||||||||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000478729|protein_coding_CDS_not_defined||||||||||rs7411115|83|1||SNV|HGNC|HGNC:28706||||5||||||||1||||||0.7424|0.612|0.7147|0.7143|0.8569|0.8497||||||||||0.7584|0.6095|0.8085|0.7502|0.8376|0.7444|0.8587|0.8182|0.8262|0.7794|0.823|0.8587|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000483767|retained_intron||||||||||rs7411115|3941|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||0.7424|0.612|0.7147|0.7143|0.8569|0.8497||||||||||0.7584|0.6095|0.8085|0.7502|0.8376|0.7444|0.8587|0.8182|0.8262|0.7794|0.823|0.8587|gnomADg_FIN|||||||||||||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||7/13|ENST00000616016.5:c.1195+851C>G|||||||rs7411115||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.7424|0.612|0.7147|0.7143|0.8569|0.8497||||||||||0.7584|0.6095|0.8085|0.7502|0.8376|0.7444|0.8587|0.8182|0.8262|0.7794|0.823|0.8587|gnomADg_FIN|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||6/10|ENST00000616125.5:c.661+851C>G|||||||rs7411115||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.7424|0.612|0.7147|0.7143|0.8569|0.8497||||||||||0.7584|0.6095|0.8085|0.7502|0.8376|0.7444|0.8587|0.8182|0.8262|0.7794|0.823|0.8587|gnomADg_FIN|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||6/12|ENST00000617307.5:c.709+803C>G|||||||rs7411115||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.7424|0.612|0.7147|0.7143|0.8569|0.8497||||||||||0.7584|0.6095|0.8085|0.7502|0.8376|0.7444|0.8587|0.8182|0.8262|0.7794|0.823|0.8587|gnomADg_FIN|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||5/9|ENST00000618181.5:c.610+851C>G|||||||rs7411115||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.7424|0.612|0.7147|0.7143|0.8569|0.8497||||||||||0.7584|0.6095|0.8085|0.7502|0.8376|0.7444|0.8587|0.8182|0.8262|0.7794|0.823|0.8587|gnomADg_FIN|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||7/13|ENST00000618323.5:c.1198+851C>G|||||||rs7411115||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.7424|0.612|0.7147|0.7143|0.8569|0.8497||||||||||0.7584|0.6095|0.8085|0.7502|0.8376|0.7444|0.8587|0.8182|0.8262|0.7794|0.823|0.8587|gnomADg_FIN|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||5/11|ENST00000618779.5:c.521-881C>G|||||||rs7411115||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.7424|0.612|0.7147|0.7143|0.8569|0.8497||||||||||0.7584|0.6095|0.8085|0.7502|0.8376|0.7444|0.8587|0.8182|0.8262|0.7794|0.823|0.8587|gnomADg_FIN|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||6/12|ENST00000622503.5:c.709+803C>G|||||||rs7411115||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.7424|0.612|0.7147|0.7143|0.8569|0.8497||||||||||0.7584|0.6095|0.8085|0.7502|0.8376|0.7444|0.8587|0.8182|0.8262|0.7794|0.823|0.8587|gnomADg_FIN|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918372|CTCF_binding_site||||||||||rs7411115||||SNV||||||||||||||||||||0.7424|0.612|0.7147|0.7143|0.8569|0.8497||||||||||0.7584|0.6095|0.8085|0.7502|0.8376|0.7444|0.8587|0.8182|0.8262|0.7794|0.823|0.8587|gnomADg_FIN|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164803|promoter||||||||||rs7411115||||SNV||||||||||||||||||||0.7424|0.612|0.7147|0.7143|0.8569|0.8497||||||||||0.7584|0.6095|0.8085|0.7502|0.8376|0.7444|0.8587|0.8182|0.8262|0.7794|0.823|0.8587|gnomADg_FIN|||||||||||||,G|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00524905306|||||||||||rs7411115||-1||SNV||||||||||||||||||||0.7424|0.612|0.7147|0.7143|0.8569|0.8497||||||||||0.7584|0.6095|0.8085|0.7502|0.8376|0.7444|0.8587|0.8182|0.8262|0.7794|0.823|0.8587|gnomADg_FIN|||||ENSPFM0597|7|N|0.000|TFAP2C::MAX||||,G|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00526380418|||||||||||rs7411115||1||SNV||||||||||||||||||||0.7424|0.612|0.7147|0.7143|0.8569|0.8497||||||||||0.7584|0.6095|0.8085|0.7502|0.8376|0.7444|0.8587|0.8182|0.8262|0.7794|0.823|0.8587|gnomADg_FIN|||||ENSPFM0595|8|N|0.007|TFAP2C::MAX|||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 941119 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=21;POPAF=7.3;TLOD=7.31;SRC=custom;GRP=custom;CSQ=G|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||||||||||rs4372192|3084|-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||0.9131|0.8737|0.9207|0.9206|0.9503|0.9151|0.9335|0.8725|0.9513|0.9329|0.9095|0.9605|0.939|0.9342|0.9173|0.927|0.8847|0.9638|0.9299|0.9277|0.9248|0.9666|0.9304|0.9461|0.925|0.9204|0.9666|gnomADg_FIN|||||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||5/11|ENST00000341065.8:c.430-25A>G|||||||rs4372192||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.9131|0.8737|0.9207|0.9206|0.9503|0.9151|0.9335|0.8725|0.9513|0.9329|0.9095|0.9605|0.939|0.9342|0.9173|0.927|0.8847|0.9638|0.9299|0.9277|0.9248|0.9666|0.9304|0.9461|0.925|0.9204|0.9666|gnomADg_FIN|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||7/13|ENST00000342066.8:c.707-25A>G|||||||rs4372192||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.9131|0.8737|0.9207|0.9206|0.9503|0.9151|0.9335|0.8725|0.9513|0.9329|0.9095|0.9605|0.939|0.9342|0.9173|0.927|0.8847|0.9638|0.9299|0.9277|0.9248|0.9666|0.9304|0.9461|0.925|0.9204|0.9666|gnomADg_FIN|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000455979|protein_coding||1/6|ENST00000455979.1:c.187-25A>G|||||||rs4372192||1|cds_start_NF|SNV|HGNC|HGNC:28706||||2|||ENSP00000412228||H7C3J6.55|UPI000155D479||1||||||0.9131|0.8737|0.9207|0.9206|0.9503|0.9151|0.9335|0.8725|0.9513|0.9329|0.9095|0.9605|0.939|0.9342|0.9173|0.927|0.8847|0.9638|0.9299|0.9277|0.9248|0.9666|0.9304|0.9461|0.925|0.9204|0.9666|gnomADg_FIN|||||||||||XALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVRRWGVRSGSPDHSWAESSGWVCDSPHQAISLQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000464948|retained_intron||||||||||rs4372192|1047|1||SNV|HGNC|HGNC:28706||||2||||||||1||||||0.9131|0.8737|0.9207|0.9206|0.9503|0.9151|0.9335|0.8725|0.9513|0.9329|0.9095|0.9605|0.939|0.9342|0.9173|0.927|0.8847|0.9638|0.9299|0.9277|0.9248|0.9666|0.9304|0.9461|0.925|0.9204|0.9666|gnomADg_FIN|||||||||||||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000466827|retained_intron||||||||||rs4372192|984|1||SNV|HGNC|HGNC:28706||||3||||||||1||||||0.9131|0.8737|0.9207|0.9206|0.9503|0.9151|0.9335|0.8725|0.9513|0.9329|0.9095|0.9605|0.939|0.9342|0.9173|0.927|0.8847|0.9638|0.9299|0.9277|0.9248|0.9666|0.9304|0.9461|0.925|0.9204|0.9666|gnomADg_FIN|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000474461|retained_intron|1/4||ENST00000474461.1:n.44A>G||44|||||rs4372192||1||SNV|HGNC|HGNC:28706||||5||||||||1||||||0.9131|0.8737|0.9207|0.9206|0.9503|0.9151|0.9335|0.8725|0.9513|0.9329|0.9095|0.9605|0.939|0.9342|0.9173|0.927|0.8847|0.9638|0.9299|0.9277|0.9248|0.9666|0.9304|0.9461|0.925|0.9204|0.9666|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron||||||||||rs4372192|3086|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.9131|0.8737|0.9207|0.9206|0.9503|0.9151|0.9335|0.8725|0.9513|0.9329|0.9095|0.9605|0.939|0.9342|0.9173|0.927|0.8847|0.9638|0.9299|0.9277|0.9248|0.9666|0.9304|0.9461|0.925|0.9204|0.9666|gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000478729|protein_coding_CDS_not_defined||1/2|ENST00000478729.1:n.118-25A>G|||||||rs4372192||1||SNV|HGNC|HGNC:28706||||5||||||||1||||||0.9131|0.8737|0.9207|0.9206|0.9503|0.9151|0.9335|0.8725|0.9513|0.9329|0.9095|0.9605|0.939|0.9342|0.9173|0.927|0.8847|0.9638|0.9299|0.9277|0.9248|0.9666|0.9304|0.9461|0.925|0.9204|0.9666|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000483767|retained_intron||||||||||rs4372192|3085|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||0.9131|0.8737|0.9207|0.9206|0.9503|0.9151|0.9335|0.8725|0.9513|0.9329|0.9095|0.9605|0.939|0.9342|0.9173|0.927|0.8847|0.9638|0.9299|0.9277|0.9248|0.9666|0.9304|0.9461|0.925|0.9204|0.9666|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000496938|protein_coding_CDS_not_defined||||||||||rs4372192|4200|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.9131|0.8737|0.9207|0.9206|0.9503|0.9151|0.9335|0.8725|0.9513|0.9329|0.9095|0.9605|0.939|0.9342|0.9173|0.927|0.8847|0.9638|0.9299|0.9277|0.9248|0.9666|0.9304|0.9461|0.925|0.9204|0.9666|gnomADg_FIN|||||||||||||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||7/13|ENST00000616016.5:c.1196-25A>G|||||||rs4372192||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.9131|0.8737|0.9207|0.9206|0.9503|0.9151|0.9335|0.8725|0.9513|0.9329|0.9095|0.9605|0.939|0.9342|0.9173|0.927|0.8847|0.9638|0.9299|0.9277|0.9248|0.9666|0.9304|0.9461|0.925|0.9204|0.9666|gnomADg_FIN|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||6/10|ENST00000616125.5:c.662-1291A>G|||||||rs4372192||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.9131|0.8737|0.9207|0.9206|0.9503|0.9151|0.9335|0.8725|0.9513|0.9329|0.9095|0.9605|0.939|0.9342|0.9173|0.927|0.8847|0.9638|0.9299|0.9277|0.9248|0.9666|0.9304|0.9461|0.925|0.9204|0.9666|gnomADg_FIN|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||6/12|ENST00000617307.5:c.710-25A>G|||||||rs4372192||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.9131|0.8737|0.9207|0.9206|0.9503|0.9151|0.9335|0.8725|0.9513|0.9329|0.9095|0.9605|0.939|0.9342|0.9173|0.927|0.8847|0.9638|0.9299|0.9277|0.9248|0.9666|0.9304|0.9461|0.925|0.9204|0.9666|gnomADg_FIN|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||5/9|ENST00000618181.5:c.611-1291A>G|||||||rs4372192||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.9131|0.8737|0.9207|0.9206|0.9503|0.9151|0.9335|0.8725|0.9513|0.9329|0.9095|0.9605|0.939|0.9342|0.9173|0.927|0.8847|0.9638|0.9299|0.9277|0.9248|0.9666|0.9304|0.9461|0.925|0.9204|0.9666|gnomADg_FIN|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||7/13|ENST00000618323.5:c.1199-25A>G|||||||rs4372192||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.9131|0.8737|0.9207|0.9206|0.9503|0.9151|0.9335|0.8725|0.9513|0.9329|0.9095|0.9605|0.939|0.9342|0.9173|0.927|0.8847|0.9638|0.9299|0.9277|0.9248|0.9666|0.9304|0.9461|0.925|0.9204|0.9666|gnomADg_FIN|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||5/11|ENST00000618779.5:c.521-25A>G|||||||rs4372192||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.9131|0.8737|0.9207|0.9206|0.9503|0.9151|0.9335|0.8725|0.9513|0.9329|0.9095|0.9605|0.939|0.9342|0.9173|0.927|0.8847|0.9638|0.9299|0.9277|0.9248|0.9666|0.9304|0.9461|0.925|0.9204|0.9666|gnomADg_FIN|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||6/12|ENST00000622503.5:c.710-25A>G|||||||rs4372192||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.9131|0.8737|0.9207|0.9206|0.9503|0.9151|0.9335|0.8725|0.9513|0.9329|0.9095|0.9605|0.939|0.9342|0.9173|0.927|0.8847|0.9638|0.9299|0.9277|0.9248|0.9666|0.9304|0.9461|0.925|0.9204|0.9666|gnomADg_FIN|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164803|promoter||||||||||rs4372192||||SNV||||||||||||||||||||0.9131|0.8737|0.9207|0.9206|0.9503|0.9151|0.9335|0.8725|0.9513|0.9329|0.9095|0.9605|0.939|0.9342|0.9173|0.927|0.8847|0.9638|0.9299|0.9277|0.9248|0.9666|0.9304|0.9461|0.925|0.9204|0.9666|gnomADg_FIN||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 941387 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C1;DP=4;ECNT=1;GERMQ=37;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=41;POPAF=7.3;TLOD=6.78;SRC=custom;GRP=custom;CSQ=T|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||||||||||rs933709614|2816|-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C|||||||||||||||||||||||6.584e-06|0|0|0|0|0.0001959|0|0|0|0|0|0.0001959|gnomADg_EAS|||||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||6/11|ENST00000341065.8:c.592+81C>T|||||||rs933709614||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1|||||||||||||||||||||6.584e-06|0|0|0|0|0.0001959|0|0|0|0|0|0.0001959|gnomADg_EAS|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||8/13|ENST00000342066.8:c.869+81C>T|||||||rs933709614||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1|||||||||||||||||||||6.584e-06|0|0|0|0|0.0001959|0|0|0|0|0|0.0001959|gnomADg_EAS|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000455979|protein_coding||2/6|ENST00000455979.1:c.349+81C>T|||||||rs933709614||1|cds_start_NF|SNV|HGNC|HGNC:28706||||2|||ENSP00000412228||H7C3J6.55|UPI000155D479||1|||||||||||||||||||||6.584e-06|0|0|0|0|0.0001959|0|0|0|0|0|0.0001959|gnomADg_EAS|||||||||||XALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVRRWGVRSGSPDHSWAESSGWVCDSPHQAISLQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000464948|retained_intron||||||||||rs933709614|779|1||SNV|HGNC|HGNC:28706||||2||||||||1|||||||||||||||||||||6.584e-06|0|0|0|0|0.0001959|0|0|0|0|0|0.0001959|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000466827|retained_intron||||||||||rs933709614|716|1||SNV|HGNC|HGNC:28706||||3||||||||1|||||||||||||||||||||6.584e-06|0|0|0|0|0.0001959|0|0|0|0|0|0.0001959|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000474461|retained_intron||1/3|ENST00000474461.1:n.231+81C>T|||||||rs933709614||1||SNV|HGNC|HGNC:28706||||5||||||||1|||||||||||||||||||||6.584e-06|0|0|0|0|0.0001959|0|0|0|0|0|0.0001959|gnomADg_EAS|||||||||||||,T|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron||||||||||rs933709614|2818|-1||SNV|HGNC|HGNC:24517||||5|||||||||||||||||||||||||||||6.584e-06|0|0|0|0|0.0001959|0|0|0|0|0|0.0001959|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000478729|protein_coding_CDS_not_defined||2/2|ENST00000478729.1:n.280+81C>T|||||||rs933709614||1||SNV|HGNC|HGNC:28706||||5||||||||1|||||||||||||||||||||6.584e-06|0|0|0|0|0.0001959|0|0|0|0|0|0.0001959|gnomADg_EAS|||||||||||||,T|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000483767|retained_intron||||||||||rs933709614|2817|-1||SNV|HGNC|HGNC:24517||||2|||||||||||||||||||||||||||||6.584e-06|0|0|0|0|0.0001959|0|0|0|0|0|0.0001959|gnomADg_EAS|||||||||||||,T|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000496938|protein_coding_CDS_not_defined||||||||||rs933709614|3932|-1||SNV|HGNC|HGNC:24517||||5|||||||||||||||||||||||||||||6.584e-06|0|0|0|0|0.0001959|0|0|0|0|0|0.0001959|gnomADg_EAS|||||||||||||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||8/13|ENST00000616016.5:c.1358+81C>T|||||||rs933709614||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1|||||||||||||||||||||6.584e-06|0|0|0|0|0.0001959|0|0|0|0|0|0.0001959|gnomADg_EAS|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||6/10|ENST00000616125.5:c.662-1023C>T|||||||rs933709614||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1|||||||||||||||||||||6.584e-06|0|0|0|0|0.0001959|0|0|0|0|0|0.0001959|gnomADg_EAS|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||7/12|ENST00000617307.5:c.872+81C>T|||||||rs933709614||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1|||||||||||||||||||||6.584e-06|0|0|0|0|0.0001959|0|0|0|0|0|0.0001959|gnomADg_EAS|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||5/9|ENST00000618181.5:c.611-1023C>T|||||||rs933709614||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1|||||||||||||||||||||6.584e-06|0|0|0|0|0.0001959|0|0|0|0|0|0.0001959|gnomADg_EAS|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||8/13|ENST00000618323.5:c.1361+81C>T|||||||rs933709614||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1|||||||||||||||||||||6.584e-06|0|0|0|0|0.0001959|0|0|0|0|0|0.0001959|gnomADg_EAS|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||6/11|ENST00000618779.5:c.683+81C>T|||||||rs933709614||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1|||||||||||||||||||||6.584e-06|0|0|0|0|0.0001959|0|0|0|0|0|0.0001959|gnomADg_EAS|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||7/12|ENST00000622503.5:c.872+81C>T|||||||rs933709614||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1|||||||||||||||||||||6.584e-06|0|0|0|0|0.0001959|0|0|0|0|0|0.0001959|gnomADg_EAS|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918373|CTCF_binding_site||||||||||rs933709614||||SNV|||||||||||||||||||||||||||||||||||6.584e-06|0|0|0|0|0.0001959|0|0|0|0|0|0.0001959|gnomADg_EAS|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164803|promoter||||||||||rs933709614||||SNV|||||||||||||||||||||||||||||||||||6.584e-06|0|0|0|0|0.0001959|0|0|0|0|0|0.0001959|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.5:4:0,0:1,1:1,1:1,1,1,1 -chr1 941767 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4%2C4|2%2C2;DP=12;ECNT=1;GERMQ=39;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=77;POPAF=7.3;TLOD=12.66;SRC=custom;GRP=custom;CSQ=A|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||||||||||rs114982608|2436|-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||0.1715|0.0378|0.255|0.0833|0.2555|0.2975||||||||||0.1926|0.05858|0.3396|0.2395|0.3225|0.07722|0.2716|0.25|0.2449|0.2036|0.2783|0.3396|gnomADg_AMI|||||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||6/11|ENST00000341065.8:c.593-369G>A|||||||rs114982608||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.1715|0.0378|0.255|0.0833|0.2555|0.2975||||||||||0.1926|0.05858|0.3396|0.2395|0.3225|0.07722|0.2716|0.25|0.2449|0.2036|0.2783|0.3396|gnomADg_AMI|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||8/13|ENST00000342066.8:c.870-369G>A|||||||rs114982608||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.1715|0.0378|0.255|0.0833|0.2555|0.2975||||||||||0.1926|0.05858|0.3396|0.2395|0.3225|0.07722|0.2716|0.25|0.2449|0.2036|0.2783|0.3396|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000455979|protein_coding||2/6|ENST00000455979.1:c.350-369G>A|||||||rs114982608||1|cds_start_NF|SNV|HGNC|HGNC:28706||||2|||ENSP00000412228||H7C3J6.55|UPI000155D479||1||||||0.1715|0.0378|0.255|0.0833|0.2555|0.2975||||||||||0.1926|0.05858|0.3396|0.2395|0.3225|0.07722|0.2716|0.25|0.2449|0.2036|0.2783|0.3396|gnomADg_AMI|||||||||||XALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVRRWGVRSGSPDHSWAESSGWVCDSPHQAISLQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000464948|retained_intron||||||||||rs114982608|399|1||SNV|HGNC|HGNC:28706||||2||||||||1||||||0.1715|0.0378|0.255|0.0833|0.2555|0.2975||||||||||0.1926|0.05858|0.3396|0.2395|0.3225|0.07722|0.2716|0.25|0.2449|0.2036|0.2783|0.3396|gnomADg_AMI|||||||||||||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000466827|retained_intron||||||||||rs114982608|336|1||SNV|HGNC|HGNC:28706||||3||||||||1||||||0.1715|0.0378|0.255|0.0833|0.2555|0.2975||||||||||0.1926|0.05858|0.3396|0.2395|0.3225|0.07722|0.2716|0.25|0.2449|0.2036|0.2783|0.3396|gnomADg_AMI|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000474461|retained_intron||1/3|ENST00000474461.1:n.232-369G>A|||||||rs114982608||1||SNV|HGNC|HGNC:28706||||5||||||||1||||||0.1715|0.0378|0.255|0.0833|0.2555|0.2975||||||||||0.1926|0.05858|0.3396|0.2395|0.3225|0.07722|0.2716|0.25|0.2449|0.2036|0.2783|0.3396|gnomADg_AMI|||||||||||||,A|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron||||||||||rs114982608|2438|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.1715|0.0378|0.255|0.0833|0.2555|0.2975||||||||||0.1926|0.05858|0.3396|0.2395|0.3225|0.07722|0.2716|0.25|0.2449|0.2036|0.2783|0.3396|gnomADg_AMI|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000478729|protein_coding_CDS_not_defined||2/2|ENST00000478729.1:n.281-369G>A|||||||rs114982608||1||SNV|HGNC|HGNC:28706||||5||||||||1||||||0.1715|0.0378|0.255|0.0833|0.2555|0.2975||||||||||0.1926|0.05858|0.3396|0.2395|0.3225|0.07722|0.2716|0.25|0.2449|0.2036|0.2783|0.3396|gnomADg_AMI|||||||||||||,A|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000483767|retained_intron||||||||||rs114982608|2437|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||0.1715|0.0378|0.255|0.0833|0.2555|0.2975||||||||||0.1926|0.05858|0.3396|0.2395|0.3225|0.07722|0.2716|0.25|0.2449|0.2036|0.2783|0.3396|gnomADg_AMI|||||||||||||,A|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000496938|protein_coding_CDS_not_defined||||||||||rs114982608|3552|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.1715|0.0378|0.255|0.0833|0.2555|0.2975||||||||||0.1926|0.05858|0.3396|0.2395|0.3225|0.07722|0.2716|0.25|0.2449|0.2036|0.2783|0.3396|gnomADg_AMI|||||||||||||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||8/13|ENST00000616016.5:c.1359-369G>A|||||||rs114982608||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.1715|0.0378|0.255|0.0833|0.2555|0.2975||||||||||0.1926|0.05858|0.3396|0.2395|0.3225|0.07722|0.2716|0.25|0.2449|0.2036|0.2783|0.3396|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||6/10|ENST00000616125.5:c.662-643G>A|||||||rs114982608||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.1715|0.0378|0.255|0.0833|0.2555|0.2975||||||||||0.1926|0.05858|0.3396|0.2395|0.3225|0.07722|0.2716|0.25|0.2449|0.2036|0.2783|0.3396|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||7/12|ENST00000617307.5:c.873-369G>A|||||||rs114982608||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.1715|0.0378|0.255|0.0833|0.2555|0.2975||||||||||0.1926|0.05858|0.3396|0.2395|0.3225|0.07722|0.2716|0.25|0.2449|0.2036|0.2783|0.3396|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||5/9|ENST00000618181.5:c.611-643G>A|||||||rs114982608||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.1715|0.0378|0.255|0.0833|0.2555|0.2975||||||||||0.1926|0.05858|0.3396|0.2395|0.3225|0.07722|0.2716|0.25|0.2449|0.2036|0.2783|0.3396|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||8/13|ENST00000618323.5:c.1362-369G>A|||||||rs114982608||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.1715|0.0378|0.255|0.0833|0.2555|0.2975||||||||||0.1926|0.05858|0.3396|0.2395|0.3225|0.07722|0.2716|0.25|0.2449|0.2036|0.2783|0.3396|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||6/11|ENST00000618779.5:c.684-369G>A|||||||rs114982608||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.1715|0.0378|0.255|0.0833|0.2555|0.2975||||||||||0.1926|0.05858|0.3396|0.2395|0.3225|0.07722|0.2716|0.25|0.2449|0.2036|0.2783|0.3396|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||7/12|ENST00000622503.5:c.873-369G>A|||||||rs114982608||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.1715|0.0378|0.255|0.0833|0.2555|0.2975||||||||||0.1926|0.05858|0.3396|0.2395|0.3225|0.07722|0.2716|0.25|0.2449|0.2036|0.2783|0.3396|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164803|promoter||||||||||rs114982608||||SNV||||||||||||||||||||0.1715|0.0378|0.255|0.0833|0.2555|0.2975||||||||||0.1926|0.05858|0.3396|0.2395|0.3225|0.07722|0.2716|0.25|0.2449|0.2036|0.2783|0.3396|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:8,4:0.375:12:0,0:4,2:4,2:4,4,2,2 -chr1 941767 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=78;POPAF=7.3;TLOD=7.25;SRC=custom;GRP=custom;CSQ=A|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||||||||||rs114982608|2436|-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||0.1715|0.0378|0.255|0.0833|0.2555|0.2975||||||||||0.1926|0.05858|0.3396|0.2395|0.3225|0.07722|0.2716|0.25|0.2449|0.2036|0.2783|0.3396|gnomADg_AMI|||||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||6/11|ENST00000341065.8:c.593-369G>A|||||||rs114982608||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.1715|0.0378|0.255|0.0833|0.2555|0.2975||||||||||0.1926|0.05858|0.3396|0.2395|0.3225|0.07722|0.2716|0.25|0.2449|0.2036|0.2783|0.3396|gnomADg_AMI|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||8/13|ENST00000342066.8:c.870-369G>A|||||||rs114982608||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.1715|0.0378|0.255|0.0833|0.2555|0.2975||||||||||0.1926|0.05858|0.3396|0.2395|0.3225|0.07722|0.2716|0.25|0.2449|0.2036|0.2783|0.3396|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000455979|protein_coding||2/6|ENST00000455979.1:c.350-369G>A|||||||rs114982608||1|cds_start_NF|SNV|HGNC|HGNC:28706||||2|||ENSP00000412228||H7C3J6.55|UPI000155D479||1||||||0.1715|0.0378|0.255|0.0833|0.2555|0.2975||||||||||0.1926|0.05858|0.3396|0.2395|0.3225|0.07722|0.2716|0.25|0.2449|0.2036|0.2783|0.3396|gnomADg_AMI|||||||||||XALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVRRWGVRSGSPDHSWAESSGWVCDSPHQAISLQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000464948|retained_intron||||||||||rs114982608|399|1||SNV|HGNC|HGNC:28706||||2||||||||1||||||0.1715|0.0378|0.255|0.0833|0.2555|0.2975||||||||||0.1926|0.05858|0.3396|0.2395|0.3225|0.07722|0.2716|0.25|0.2449|0.2036|0.2783|0.3396|gnomADg_AMI|||||||||||||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000466827|retained_intron||||||||||rs114982608|336|1||SNV|HGNC|HGNC:28706||||3||||||||1||||||0.1715|0.0378|0.255|0.0833|0.2555|0.2975||||||||||0.1926|0.05858|0.3396|0.2395|0.3225|0.07722|0.2716|0.25|0.2449|0.2036|0.2783|0.3396|gnomADg_AMI|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000474461|retained_intron||1/3|ENST00000474461.1:n.232-369G>A|||||||rs114982608||1||SNV|HGNC|HGNC:28706||||5||||||||1||||||0.1715|0.0378|0.255|0.0833|0.2555|0.2975||||||||||0.1926|0.05858|0.3396|0.2395|0.3225|0.07722|0.2716|0.25|0.2449|0.2036|0.2783|0.3396|gnomADg_AMI|||||||||||||,A|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron||||||||||rs114982608|2438|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.1715|0.0378|0.255|0.0833|0.2555|0.2975||||||||||0.1926|0.05858|0.3396|0.2395|0.3225|0.07722|0.2716|0.25|0.2449|0.2036|0.2783|0.3396|gnomADg_AMI|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000478729|protein_coding_CDS_not_defined||2/2|ENST00000478729.1:n.281-369G>A|||||||rs114982608||1||SNV|HGNC|HGNC:28706||||5||||||||1||||||0.1715|0.0378|0.255|0.0833|0.2555|0.2975||||||||||0.1926|0.05858|0.3396|0.2395|0.3225|0.07722|0.2716|0.25|0.2449|0.2036|0.2783|0.3396|gnomADg_AMI|||||||||||||,A|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000483767|retained_intron||||||||||rs114982608|2437|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||0.1715|0.0378|0.255|0.0833|0.2555|0.2975||||||||||0.1926|0.05858|0.3396|0.2395|0.3225|0.07722|0.2716|0.25|0.2449|0.2036|0.2783|0.3396|gnomADg_AMI|||||||||||||,A|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000496938|protein_coding_CDS_not_defined||||||||||rs114982608|3552|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.1715|0.0378|0.255|0.0833|0.2555|0.2975||||||||||0.1926|0.05858|0.3396|0.2395|0.3225|0.07722|0.2716|0.25|0.2449|0.2036|0.2783|0.3396|gnomADg_AMI|||||||||||||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||8/13|ENST00000616016.5:c.1359-369G>A|||||||rs114982608||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.1715|0.0378|0.255|0.0833|0.2555|0.2975||||||||||0.1926|0.05858|0.3396|0.2395|0.3225|0.07722|0.2716|0.25|0.2449|0.2036|0.2783|0.3396|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||6/10|ENST00000616125.5:c.662-643G>A|||||||rs114982608||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.1715|0.0378|0.255|0.0833|0.2555|0.2975||||||||||0.1926|0.05858|0.3396|0.2395|0.3225|0.07722|0.2716|0.25|0.2449|0.2036|0.2783|0.3396|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||7/12|ENST00000617307.5:c.873-369G>A|||||||rs114982608||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.1715|0.0378|0.255|0.0833|0.2555|0.2975||||||||||0.1926|0.05858|0.3396|0.2395|0.3225|0.07722|0.2716|0.25|0.2449|0.2036|0.2783|0.3396|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||5/9|ENST00000618181.5:c.611-643G>A|||||||rs114982608||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.1715|0.0378|0.255|0.0833|0.2555|0.2975||||||||||0.1926|0.05858|0.3396|0.2395|0.3225|0.07722|0.2716|0.25|0.2449|0.2036|0.2783|0.3396|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||8/13|ENST00000618323.5:c.1362-369G>A|||||||rs114982608||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.1715|0.0378|0.255|0.0833|0.2555|0.2975||||||||||0.1926|0.05858|0.3396|0.2395|0.3225|0.07722|0.2716|0.25|0.2449|0.2036|0.2783|0.3396|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||6/11|ENST00000618779.5:c.684-369G>A|||||||rs114982608||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.1715|0.0378|0.255|0.0833|0.2555|0.2975||||||||||0.1926|0.05858|0.3396|0.2395|0.3225|0.07722|0.2716|0.25|0.2449|0.2036|0.2783|0.3396|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||7/12|ENST00000622503.5:c.873-369G>A|||||||rs114982608||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.1715|0.0378|0.255|0.0833|0.2555|0.2975||||||||||0.1926|0.05858|0.3396|0.2395|0.3225|0.07722|0.2716|0.25|0.2449|0.2036|0.2783|0.3396|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164803|promoter||||||||||rs114982608||||SNV||||||||||||||||||||0.1715|0.0378|0.255|0.0833|0.2555|0.2975||||||||||0.1926|0.05858|0.3396|0.2395|0.3225|0.07722|0.2716|0.25|0.2449|0.2036|0.2783|0.3396|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 942335 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=43;POPAF=7.3;TLOD=7.15;SRC=custom;GRP=custom;CSQ=G|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||||||||||rs6605066&COSV58986459|1868|-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||0.8880|0.7935|0.9092|0.9256|0.9443|0.9039||||||||||0.8921|0.7967|0.8813|0.913|0.9116|0.9261|0.9422|0.9114|0.933|0.902|0.9047|0.9443|EUR||0&1|0&1||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||7/11|ENST00000341065.8:c.709-75C>G|||||||rs6605066&COSV58986459||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.8880|0.7935|0.9092|0.9256|0.9443|0.9039||||||||||0.8921|0.7967|0.8813|0.913|0.9116|0.9261|0.9422|0.9114|0.933|0.902|0.9047|0.9443|EUR||0&1|0&1||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||9/13|ENST00000342066.8:c.986-75C>G|||||||rs6605066&COSV58986459||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.8880|0.7935|0.9092|0.9256|0.9443|0.9039||||||||||0.8921|0.7967|0.8813|0.913|0.9116|0.9261|0.9422|0.9114|0.933|0.902|0.9047|0.9443|EUR||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000455979|protein_coding||3/6|ENST00000455979.1:c.466-75C>G|||||||rs6605066&COSV58986459||1|cds_start_NF|SNV|HGNC|HGNC:28706||||2|||ENSP00000412228||H7C3J6.55|UPI000155D479||1||||||0.8880|0.7935|0.9092|0.9256|0.9443|0.9039||||||||||0.8921|0.7967|0.8813|0.913|0.9116|0.9261|0.9422|0.9114|0.933|0.902|0.9047|0.9443|EUR||0&1|0&1||||||||XALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVRRWGVRSGSPDHSWAESSGWVCDSPHQAISLQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|non_coding_transcript_exon_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000464948|retained_intron|1/2||ENST00000464948.1:n.170C>G||170|||||rs6605066&COSV58986459||1||SNV|HGNC|HGNC:28706||||2||||||||1||||||0.8880|0.7935|0.9092|0.9256|0.9443|0.9039||||||||||0.8921|0.7967|0.8813|0.913|0.9116|0.9261|0.9422|0.9114|0.933|0.902|0.9047|0.9443|EUR||0&1|0&1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000466827|retained_intron||1/1|ENST00000466827.1:n.150-75C>G|||||||rs6605066&COSV58986459||1||SNV|HGNC|HGNC:28706||||3||||||||1||||||0.8880|0.7935|0.9092|0.9256|0.9443|0.9039||||||||||0.8921|0.7967|0.8813|0.913|0.9116|0.9261|0.9422|0.9114|0.933|0.902|0.9047|0.9443|EUR||0&1|0&1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000474461|retained_intron||2/3|ENST00000474461.1:n.348-75C>G|||||||rs6605066&COSV58986459||1||SNV|HGNC|HGNC:28706||||5||||||||1||||||0.8880|0.7935|0.9092|0.9256|0.9443|0.9039||||||||||0.8921|0.7967|0.8813|0.913|0.9116|0.9261|0.9422|0.9114|0.933|0.902|0.9047|0.9443|EUR||0&1|0&1||||||||||,G|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron||||||||||rs6605066&COSV58986459|1870|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.8880|0.7935|0.9092|0.9256|0.9443|0.9039||||||||||0.8921|0.7967|0.8813|0.913|0.9116|0.9261|0.9422|0.9114|0.933|0.902|0.9047|0.9443|EUR||0&1|0&1||||||||||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000478729|protein_coding_CDS_not_defined||||||||||rs6605066&COSV58986459|162|1||SNV|HGNC|HGNC:28706||||5||||||||1||||||0.8880|0.7935|0.9092|0.9256|0.9443|0.9039||||||||||0.8921|0.7967|0.8813|0.913|0.9116|0.9261|0.9422|0.9114|0.933|0.902|0.9047|0.9443|EUR||0&1|0&1||||||||||,G|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000483767|retained_intron||||||||||rs6605066&COSV58986459|1869|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||0.8880|0.7935|0.9092|0.9256|0.9443|0.9039||||||||||0.8921|0.7967|0.8813|0.913|0.9116|0.9261|0.9422|0.9114|0.933|0.902|0.9047|0.9443|EUR||0&1|0&1||||||||||,G|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000496938|protein_coding_CDS_not_defined||||||||||rs6605066&COSV58986459|2984|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.8880|0.7935|0.9092|0.9256|0.9443|0.9039||||||||||0.8921|0.7967|0.8813|0.913|0.9116|0.9261|0.9422|0.9114|0.933|0.902|0.9047|0.9443|EUR||0&1|0&1||||||||||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||9/13|ENST00000616016.5:c.1475-75C>G|||||||rs6605066&COSV58986459||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.8880|0.7935|0.9092|0.9256|0.9443|0.9039||||||||||0.8921|0.7967|0.8813|0.913|0.9116|0.9261|0.9422|0.9114|0.933|0.902|0.9047|0.9443|EUR||0&1|0&1||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||6/10|ENST00000616125.5:c.662-75C>G|||||||rs6605066&COSV58986459||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.8880|0.7935|0.9092|0.9256|0.9443|0.9039||||||||||0.8921|0.7967|0.8813|0.913|0.9116|0.9261|0.9422|0.9114|0.933|0.902|0.9047|0.9443|EUR||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||8/12|ENST00000617307.5:c.989-75C>G|||||||rs6605066&COSV58986459||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.8880|0.7935|0.9092|0.9256|0.9443|0.9039||||||||||0.8921|0.7967|0.8813|0.913|0.9116|0.9261|0.9422|0.9114|0.933|0.902|0.9047|0.9443|EUR||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||5/9|ENST00000618181.5:c.611-75C>G|||||||rs6605066&COSV58986459||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.8880|0.7935|0.9092|0.9256|0.9443|0.9039||||||||||0.8921|0.7967|0.8813|0.913|0.9116|0.9261|0.9422|0.9114|0.933|0.902|0.9047|0.9443|EUR||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||9/13|ENST00000618323.5:c.1478-75C>G|||||||rs6605066&COSV58986459||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.8880|0.7935|0.9092|0.9256|0.9443|0.9039||||||||||0.8921|0.7967|0.8813|0.913|0.9116|0.9261|0.9422|0.9114|0.933|0.902|0.9047|0.9443|EUR||0&1|0&1||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||7/11|ENST00000618779.5:c.800-75C>G|||||||rs6605066&COSV58986459||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.8880|0.7935|0.9092|0.9256|0.9443|0.9039||||||||||0.8921|0.7967|0.8813|0.913|0.9116|0.9261|0.9422|0.9114|0.933|0.902|0.9047|0.9443|EUR||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||8/12|ENST00000622503.5:c.989-75C>G|||||||rs6605066&COSV58986459||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.8880|0.7935|0.9092|0.9256|0.9443|0.9039||||||||||0.8921|0.7967|0.8813|0.913|0.9116|0.9261|0.9422|0.9114|0.933|0.902|0.9047|0.9443|EUR||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164803|promoter||||||||||rs6605066&COSV58986459||||SNV||||||||||||||||||||0.8880|0.7935|0.9092|0.9256|0.9443|0.9039||||||||||0.8921|0.7967|0.8813|0.913|0.9116|0.9261|0.9422|0.9114|0.933|0.902|0.9047|0.9443|EUR||0&1|0&1|||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 942335 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=24;POPAF=7.3;TLOD=7.25;SRC=custom;GRP=custom;CSQ=G|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||||||||||rs6605066&COSV58986459|1868|-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||0.8880|0.7935|0.9092|0.9256|0.9443|0.9039||||||||||0.8921|0.7967|0.8813|0.913|0.9116|0.9261|0.9422|0.9114|0.933|0.902|0.9047|0.9443|EUR||0&1|0&1||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||7/11|ENST00000341065.8:c.709-75C>G|||||||rs6605066&COSV58986459||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.8880|0.7935|0.9092|0.9256|0.9443|0.9039||||||||||0.8921|0.7967|0.8813|0.913|0.9116|0.9261|0.9422|0.9114|0.933|0.902|0.9047|0.9443|EUR||0&1|0&1||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||9/13|ENST00000342066.8:c.986-75C>G|||||||rs6605066&COSV58986459||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.8880|0.7935|0.9092|0.9256|0.9443|0.9039||||||||||0.8921|0.7967|0.8813|0.913|0.9116|0.9261|0.9422|0.9114|0.933|0.902|0.9047|0.9443|EUR||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000455979|protein_coding||3/6|ENST00000455979.1:c.466-75C>G|||||||rs6605066&COSV58986459||1|cds_start_NF|SNV|HGNC|HGNC:28706||||2|||ENSP00000412228||H7C3J6.55|UPI000155D479||1||||||0.8880|0.7935|0.9092|0.9256|0.9443|0.9039||||||||||0.8921|0.7967|0.8813|0.913|0.9116|0.9261|0.9422|0.9114|0.933|0.902|0.9047|0.9443|EUR||0&1|0&1||||||||XALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVRRWGVRSGSPDHSWAESSGWVCDSPHQAISLQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|non_coding_transcript_exon_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000464948|retained_intron|1/2||ENST00000464948.1:n.170C>G||170|||||rs6605066&COSV58986459||1||SNV|HGNC|HGNC:28706||||2||||||||1||||||0.8880|0.7935|0.9092|0.9256|0.9443|0.9039||||||||||0.8921|0.7967|0.8813|0.913|0.9116|0.9261|0.9422|0.9114|0.933|0.902|0.9047|0.9443|EUR||0&1|0&1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000466827|retained_intron||1/1|ENST00000466827.1:n.150-75C>G|||||||rs6605066&COSV58986459||1||SNV|HGNC|HGNC:28706||||3||||||||1||||||0.8880|0.7935|0.9092|0.9256|0.9443|0.9039||||||||||0.8921|0.7967|0.8813|0.913|0.9116|0.9261|0.9422|0.9114|0.933|0.902|0.9047|0.9443|EUR||0&1|0&1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000474461|retained_intron||2/3|ENST00000474461.1:n.348-75C>G|||||||rs6605066&COSV58986459||1||SNV|HGNC|HGNC:28706||||5||||||||1||||||0.8880|0.7935|0.9092|0.9256|0.9443|0.9039||||||||||0.8921|0.7967|0.8813|0.913|0.9116|0.9261|0.9422|0.9114|0.933|0.902|0.9047|0.9443|EUR||0&1|0&1||||||||||,G|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron||||||||||rs6605066&COSV58986459|1870|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.8880|0.7935|0.9092|0.9256|0.9443|0.9039||||||||||0.8921|0.7967|0.8813|0.913|0.9116|0.9261|0.9422|0.9114|0.933|0.902|0.9047|0.9443|EUR||0&1|0&1||||||||||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000478729|protein_coding_CDS_not_defined||||||||||rs6605066&COSV58986459|162|1||SNV|HGNC|HGNC:28706||||5||||||||1||||||0.8880|0.7935|0.9092|0.9256|0.9443|0.9039||||||||||0.8921|0.7967|0.8813|0.913|0.9116|0.9261|0.9422|0.9114|0.933|0.902|0.9047|0.9443|EUR||0&1|0&1||||||||||,G|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000483767|retained_intron||||||||||rs6605066&COSV58986459|1869|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||0.8880|0.7935|0.9092|0.9256|0.9443|0.9039||||||||||0.8921|0.7967|0.8813|0.913|0.9116|0.9261|0.9422|0.9114|0.933|0.902|0.9047|0.9443|EUR||0&1|0&1||||||||||,G|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000496938|protein_coding_CDS_not_defined||||||||||rs6605066&COSV58986459|2984|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.8880|0.7935|0.9092|0.9256|0.9443|0.9039||||||||||0.8921|0.7967|0.8813|0.913|0.9116|0.9261|0.9422|0.9114|0.933|0.902|0.9047|0.9443|EUR||0&1|0&1||||||||||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||9/13|ENST00000616016.5:c.1475-75C>G|||||||rs6605066&COSV58986459||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.8880|0.7935|0.9092|0.9256|0.9443|0.9039||||||||||0.8921|0.7967|0.8813|0.913|0.9116|0.9261|0.9422|0.9114|0.933|0.902|0.9047|0.9443|EUR||0&1|0&1||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||6/10|ENST00000616125.5:c.662-75C>G|||||||rs6605066&COSV58986459||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.8880|0.7935|0.9092|0.9256|0.9443|0.9039||||||||||0.8921|0.7967|0.8813|0.913|0.9116|0.9261|0.9422|0.9114|0.933|0.902|0.9047|0.9443|EUR||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||8/12|ENST00000617307.5:c.989-75C>G|||||||rs6605066&COSV58986459||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.8880|0.7935|0.9092|0.9256|0.9443|0.9039||||||||||0.8921|0.7967|0.8813|0.913|0.9116|0.9261|0.9422|0.9114|0.933|0.902|0.9047|0.9443|EUR||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||5/9|ENST00000618181.5:c.611-75C>G|||||||rs6605066&COSV58986459||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.8880|0.7935|0.9092|0.9256|0.9443|0.9039||||||||||0.8921|0.7967|0.8813|0.913|0.9116|0.9261|0.9422|0.9114|0.933|0.902|0.9047|0.9443|EUR||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||9/13|ENST00000618323.5:c.1478-75C>G|||||||rs6605066&COSV58986459||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.8880|0.7935|0.9092|0.9256|0.9443|0.9039||||||||||0.8921|0.7967|0.8813|0.913|0.9116|0.9261|0.9422|0.9114|0.933|0.902|0.9047|0.9443|EUR||0&1|0&1||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||7/11|ENST00000618779.5:c.800-75C>G|||||||rs6605066&COSV58986459||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.8880|0.7935|0.9092|0.9256|0.9443|0.9039||||||||||0.8921|0.7967|0.8813|0.913|0.9116|0.9261|0.9422|0.9114|0.933|0.902|0.9047|0.9443|EUR||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||8/12|ENST00000622503.5:c.989-75C>G|||||||rs6605066&COSV58986459||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.8880|0.7935|0.9092|0.9256|0.9443|0.9039||||||||||0.8921|0.7967|0.8813|0.913|0.9116|0.9261|0.9422|0.9114|0.933|0.902|0.9047|0.9443|EUR||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164803|promoter||||||||||rs6605066&COSV58986459||||SNV||||||||||||||||||||0.8880|0.7935|0.9092|0.9256|0.9443|0.9039||||||||||0.8921|0.7967|0.8813|0.913|0.9116|0.9261|0.9422|0.9114|0.933|0.902|0.9047|0.9443|EUR||0&1|0&1|||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 942451 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C1;DP=5;ECNT=1;GERMQ=55;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=45;POPAF=7.3;TLOD=18.09;SRC=custom;GRP=custom;CSQ=C|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||||||||||rs6672356&COSV58985794|1752|-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||1.0000|1|1|1|1|1|0.9999|0.9994|0.9999|1|1|1|0.9999|1|0.9997|0.9998|0.9996|1|1|1|1|1|1|0.9999|1|0.9996|1|AFR&AMR&EAS&EUR&SAS&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_OTH&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_OTH|benign|0&1|1&1||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,C|missense_variant|MODERATE|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding|8/12||ENST00000341065.8:c.751T>C|ENSP00000349216.4:p.Trp251Arg|750|751|251|W/R|Tgg/Cgg|rs6672356&COSV58985794||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1|tolerated(1)|benign(0)||||1.0000|1|1|1|1|1|0.9999|0.9994|0.9999|1|1|1|0.9999|1|0.9997|0.9998|0.9996|1|1|1|1|1|1|0.9999|1|0.9996|1|AFR&AMR&EAS&EUR&SAS&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_OTH&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_OTH|benign|0&1|1&1||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|missense_variant|MODERATE|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding|10/14||ENST00000342066.8:c.1027T>C|ENSP00000342313.3:p.Trp343Arg|1117|1027|343|W/R|Tgg/Cgg|rs6672356&COSV58985794||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1|tolerated(1)|benign(0)||||1.0000|1|1|1|1|1|0.9999|0.9994|0.9999|1|1|1|0.9999|1|0.9997|0.9998|0.9996|1|1|1|1|1|1|0.9999|1|0.9996|1|AFR&AMR&EAS&EUR&SAS&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_OTH&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_OTH|benign|0&1|1&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|missense_variant|MODERATE|SAMD11|ENSG00000187634|Transcript|ENST00000455979|protein_coding|4/7||ENST00000455979.1:c.508T>C|ENSP00000412228.1:p.Trp170Arg|507|508|170|W/R|Tgg/Cgg|rs6672356&COSV58985794||1|cds_start_NF|SNV|HGNC|HGNC:28706||||2|||ENSP00000412228||H7C3J6.55|UPI000155D479||1|tolerated(1)|benign(0)||||1.0000|1|1|1|1|1|0.9999|0.9994|0.9999|1|1|1|0.9999|1|0.9997|0.9998|0.9996|1|1|1|1|1|1|0.9999|1|0.9996|1|AFR&AMR&EAS&EUR&SAS&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_OTH&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_OTH|benign|0&1|1&1||||||||XALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVRRWGVRSGSPDHSWAESSGWVCDSPHQAISLQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|non_coding_transcript_exon_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000464948|retained_intron|1/2||ENST00000464948.1:n.286T>C||286|||||rs6672356&COSV58985794||1||SNV|HGNC|HGNC:28706||||2||||||||1||||||1.0000|1|1|1|1|1|0.9999|0.9994|0.9999|1|1|1|0.9999|1|0.9997|0.9998|0.9996|1|1|1|1|1|1|0.9999|1|0.9996|1|AFR&AMR&EAS&EUR&SAS&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_OTH&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_OTH|benign|0&1|1&1||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000466827|retained_intron|2/2||ENST00000466827.1:n.191T>C||191|||||rs6672356&COSV58985794||1||SNV|HGNC|HGNC:28706||||3||||||||1||||||1.0000|1|1|1|1|1|0.9999|0.9994|0.9999|1|1|1|0.9999|1|0.9997|0.9998|0.9996|1|1|1|1|1|1|0.9999|1|0.9996|1|AFR&AMR&EAS&EUR&SAS&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_OTH&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_OTH|benign|0&1|1&1||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000474461|retained_intron|3/4||ENST00000474461.1:n.389T>C||389|||||rs6672356&COSV58985794||1||SNV|HGNC|HGNC:28706||||5||||||||1||||||1.0000|1|1|1|1|1|0.9999|0.9994|0.9999|1|1|1|0.9999|1|0.9997|0.9998|0.9996|1|1|1|1|1|1|0.9999|1|0.9996|1|AFR&AMR&EAS&EUR&SAS&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_OTH&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_OTH|benign|0&1|1&1||||||||||,C|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron||||||||||rs6672356&COSV58985794|1754|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||1.0000|1|1|1|1|1|0.9999|0.9994|0.9999|1|1|1|0.9999|1|0.9997|0.9998|0.9996|1|1|1|1|1|1|0.9999|1|0.9996|1|AFR&AMR&EAS&EUR&SAS&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_OTH&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_OTH|benign|0&1|1&1||||||||||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000478729|protein_coding_CDS_not_defined||||||||||rs6672356&COSV58985794|278|1||SNV|HGNC|HGNC:28706||||5||||||||1||||||1.0000|1|1|1|1|1|0.9999|0.9994|0.9999|1|1|1|0.9999|1|0.9997|0.9998|0.9996|1|1|1|1|1|1|0.9999|1|0.9996|1|AFR&AMR&EAS&EUR&SAS&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_OTH&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_OTH|benign|0&1|1&1||||||||||,C|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000483767|retained_intron||||||||||rs6672356&COSV58985794|1753|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||1.0000|1|1|1|1|1|0.9999|0.9994|0.9999|1|1|1|0.9999|1|0.9997|0.9998|0.9996|1|1|1|1|1|1|0.9999|1|0.9996|1|AFR&AMR&EAS&EUR&SAS&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_OTH&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_OTH|benign|0&1|1&1||||||||||,C|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000496938|protein_coding_CDS_not_defined||||||||||rs6672356&COSV58985794|2868|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||1.0000|1|1|1|1|1|0.9999|0.9994|0.9999|1|1|1|0.9999|1|0.9997|0.9998|0.9996|1|1|1|1|1|1|0.9999|1|0.9996|1|AFR&AMR&EAS&EUR&SAS&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_OTH&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_OTH|benign|0&1|1&1||||||||||,C|missense_variant|MODERATE|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding|10/14||ENST00000616016.5:c.1516T>C|ENSP00000478421.2:p.Trp506Arg|2025|1516|506|W/R|Tgg/Cgg|rs6672356&COSV58985794||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1|tolerated_low_confidence(1)|benign(0)||||1.0000|1|1|1|1|1|0.9999|0.9994|0.9999|1|1|1|0.9999|1|0.9997|0.9998|0.9996|1|1|1|1|1|1|0.9999|1|0.9996|1|AFR&AMR&EAS&EUR&SAS&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_OTH&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_OTH|benign|0&1|1&1||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|missense_variant|MODERATE|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding|7/11||ENST00000616125.5:c.703T>C|ENSP00000484643.1:p.Trp235Arg|703|703|235|W/R|Tgg/Cgg|rs6672356&COSV58985794||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1|tolerated(1)|benign(0.001)||||1.0000|1|1|1|1|1|0.9999|0.9994|0.9999|1|1|1|0.9999|1|0.9997|0.9998|0.9996|1|1|1|1|1|1|0.9999|1|0.9996|1|AFR&AMR&EAS&EUR&SAS&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_OTH&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_OTH|benign|0&1|1&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|missense_variant|MODERATE|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding|9/13||ENST00000617307.5:c.1030T>C|ENSP00000482090.2:p.Trp344Arg|1030|1030|344|W/R|Tgg/Cgg|rs6672356&COSV58985794||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1|tolerated(1)|benign(0)||||1.0000|1|1|1|1|1|0.9999|0.9994|0.9999|1|1|1|0.9999|1|0.9997|0.9998|0.9996|1|1|1|1|1|1|0.9999|1|0.9996|1|AFR&AMR&EAS&EUR&SAS&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_OTH&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_OTH|benign|0&1|1&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|missense_variant|MODERATE|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding|6/10||ENST00000618181.5:c.652T>C|ENSP00000480870.1:p.Trp218Arg|652|652|218|W/R|Tgg/Cgg|rs6672356&COSV58985794||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1|tolerated(1)|benign(0)||||1.0000|1|1|1|1|1|0.9999|0.9994|0.9999|1|1|1|0.9999|1|0.9997|0.9998|0.9996|1|1|1|1|1|1|0.9999|1|0.9996|1|AFR&AMR&EAS&EUR&SAS&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_OTH&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_OTH|benign|0&1|1&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|missense_variant|MODERATE|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding|10/14||ENST00000618323.5:c.1519T>C|ENSP00000480678.2:p.Trp507Arg|2028|1519|507|W/R|Tgg/Cgg|rs6672356&COSV58985794||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1|tolerated_low_confidence(1)|benign(0)||||1.0000|1|1|1|1|1|0.9999|0.9994|0.9999|1|1|1|0.9999|1|0.9997|0.9998|0.9996|1|1|1|1|1|1|0.9999|1|0.9996|1|AFR&AMR&EAS&EUR&SAS&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_OTH&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_OTH|benign|0&1|1&1||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|missense_variant|MODERATE|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding|8/12||ENST00000618779.5:c.841T>C|ENSP00000484256.1:p.Trp281Arg|841|841|281|W/R|Tgg/Cgg|rs6672356&COSV58985794||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1|tolerated(1)|benign(0)||||1.0000|1|1|1|1|1|0.9999|0.9994|0.9999|1|1|1|0.9999|1|0.9997|0.9998|0.9996|1|1|1|1|1|1|0.9999|1|0.9996|1|AFR&AMR&EAS&EUR&SAS&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_OTH&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_OTH|benign|0&1|1&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|missense_variant|MODERATE|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding|9/13||ENST00000622503.5:c.1030T>C|ENSP00000482138.1:p.Trp344Arg|1030|1030|344|W/R|Tgg/Cgg|rs6672356&COSV58985794||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1|tolerated(1)|benign(0)||||1.0000|1|1|1|1|1|0.9999|0.9994|0.9999|1|1|1|0.9999|1|0.9997|0.9998|0.9996|1|1|1|1|1|1|0.9999|1|0.9996|1|AFR&AMR&EAS&EUR&SAS&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_OTH&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_OTH|benign|0&1|1&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164803|promoter||||||||||rs6672356&COSV58985794||||SNV||||||||||||||||||||1.0000|1|1|1|1|1|0.9999|0.9994|0.9999|1|1|1|0.9999|1|0.9997|0.9998|0.9996|1|1|1|1|1|1|0.9999|1|0.9996|1|AFR&AMR&EAS&EUR&SAS&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_OTH&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_OTH|benign|0&1|1&1|||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.833:5:0,0:0,4:0,4:0,0,4,1 -chr1 942451 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=3;ECNT=1;GERMQ=47;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=115;POPAF=7.3;TLOD=6.83;SRC=custom;GRP=custom;CSQ=C|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||||||||||rs6672356&COSV58985794|1752|-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||1.0000|1|1|1|1|1|0.9999|0.9994|0.9999|1|1|1|0.9999|1|0.9997|0.9998|0.9996|1|1|1|1|1|1|0.9999|1|0.9996|1|AFR&AMR&EAS&EUR&SAS&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_OTH&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_OTH|benign|0&1|1&1||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,C|missense_variant|MODERATE|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding|8/12||ENST00000341065.8:c.751T>C|ENSP00000349216.4:p.Trp251Arg|750|751|251|W/R|Tgg/Cgg|rs6672356&COSV58985794||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1|tolerated(1)|benign(0)||||1.0000|1|1|1|1|1|0.9999|0.9994|0.9999|1|1|1|0.9999|1|0.9997|0.9998|0.9996|1|1|1|1|1|1|0.9999|1|0.9996|1|AFR&AMR&EAS&EUR&SAS&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_OTH&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_OTH|benign|0&1|1&1||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|missense_variant|MODERATE|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding|10/14||ENST00000342066.8:c.1027T>C|ENSP00000342313.3:p.Trp343Arg|1117|1027|343|W/R|Tgg/Cgg|rs6672356&COSV58985794||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1|tolerated(1)|benign(0)||||1.0000|1|1|1|1|1|0.9999|0.9994|0.9999|1|1|1|0.9999|1|0.9997|0.9998|0.9996|1|1|1|1|1|1|0.9999|1|0.9996|1|AFR&AMR&EAS&EUR&SAS&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_OTH&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_OTH|benign|0&1|1&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|missense_variant|MODERATE|SAMD11|ENSG00000187634|Transcript|ENST00000455979|protein_coding|4/7||ENST00000455979.1:c.508T>C|ENSP00000412228.1:p.Trp170Arg|507|508|170|W/R|Tgg/Cgg|rs6672356&COSV58985794||1|cds_start_NF|SNV|HGNC|HGNC:28706||||2|||ENSP00000412228||H7C3J6.55|UPI000155D479||1|tolerated(1)|benign(0)||||1.0000|1|1|1|1|1|0.9999|0.9994|0.9999|1|1|1|0.9999|1|0.9997|0.9998|0.9996|1|1|1|1|1|1|0.9999|1|0.9996|1|AFR&AMR&EAS&EUR&SAS&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_OTH&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_OTH|benign|0&1|1&1||||||||XALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVRRWGVRSGSPDHSWAESSGWVCDSPHQAISLQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|non_coding_transcript_exon_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000464948|retained_intron|1/2||ENST00000464948.1:n.286T>C||286|||||rs6672356&COSV58985794||1||SNV|HGNC|HGNC:28706||||2||||||||1||||||1.0000|1|1|1|1|1|0.9999|0.9994|0.9999|1|1|1|0.9999|1|0.9997|0.9998|0.9996|1|1|1|1|1|1|0.9999|1|0.9996|1|AFR&AMR&EAS&EUR&SAS&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_OTH&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_OTH|benign|0&1|1&1||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000466827|retained_intron|2/2||ENST00000466827.1:n.191T>C||191|||||rs6672356&COSV58985794||1||SNV|HGNC|HGNC:28706||||3||||||||1||||||1.0000|1|1|1|1|1|0.9999|0.9994|0.9999|1|1|1|0.9999|1|0.9997|0.9998|0.9996|1|1|1|1|1|1|0.9999|1|0.9996|1|AFR&AMR&EAS&EUR&SAS&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_OTH&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_OTH|benign|0&1|1&1||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000474461|retained_intron|3/4||ENST00000474461.1:n.389T>C||389|||||rs6672356&COSV58985794||1||SNV|HGNC|HGNC:28706||||5||||||||1||||||1.0000|1|1|1|1|1|0.9999|0.9994|0.9999|1|1|1|0.9999|1|0.9997|0.9998|0.9996|1|1|1|1|1|1|0.9999|1|0.9996|1|AFR&AMR&EAS&EUR&SAS&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_OTH&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_OTH|benign|0&1|1&1||||||||||,C|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron||||||||||rs6672356&COSV58985794|1754|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||1.0000|1|1|1|1|1|0.9999|0.9994|0.9999|1|1|1|0.9999|1|0.9997|0.9998|0.9996|1|1|1|1|1|1|0.9999|1|0.9996|1|AFR&AMR&EAS&EUR&SAS&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_OTH&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_OTH|benign|0&1|1&1||||||||||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000478729|protein_coding_CDS_not_defined||||||||||rs6672356&COSV58985794|278|1||SNV|HGNC|HGNC:28706||||5||||||||1||||||1.0000|1|1|1|1|1|0.9999|0.9994|0.9999|1|1|1|0.9999|1|0.9997|0.9998|0.9996|1|1|1|1|1|1|0.9999|1|0.9996|1|AFR&AMR&EAS&EUR&SAS&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_OTH&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_OTH|benign|0&1|1&1||||||||||,C|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000483767|retained_intron||||||||||rs6672356&COSV58985794|1753|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||1.0000|1|1|1|1|1|0.9999|0.9994|0.9999|1|1|1|0.9999|1|0.9997|0.9998|0.9996|1|1|1|1|1|1|0.9999|1|0.9996|1|AFR&AMR&EAS&EUR&SAS&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_OTH&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_OTH|benign|0&1|1&1||||||||||,C|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000496938|protein_coding_CDS_not_defined||||||||||rs6672356&COSV58985794|2868|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||1.0000|1|1|1|1|1|0.9999|0.9994|0.9999|1|1|1|0.9999|1|0.9997|0.9998|0.9996|1|1|1|1|1|1|0.9999|1|0.9996|1|AFR&AMR&EAS&EUR&SAS&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_OTH&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_OTH|benign|0&1|1&1||||||||||,C|missense_variant|MODERATE|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding|10/14||ENST00000616016.5:c.1516T>C|ENSP00000478421.2:p.Trp506Arg|2025|1516|506|W/R|Tgg/Cgg|rs6672356&COSV58985794||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1|tolerated_low_confidence(1)|benign(0)||||1.0000|1|1|1|1|1|0.9999|0.9994|0.9999|1|1|1|0.9999|1|0.9997|0.9998|0.9996|1|1|1|1|1|1|0.9999|1|0.9996|1|AFR&AMR&EAS&EUR&SAS&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_OTH&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_OTH|benign|0&1|1&1||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|missense_variant|MODERATE|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding|7/11||ENST00000616125.5:c.703T>C|ENSP00000484643.1:p.Trp235Arg|703|703|235|W/R|Tgg/Cgg|rs6672356&COSV58985794||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1|tolerated(1)|benign(0.001)||||1.0000|1|1|1|1|1|0.9999|0.9994|0.9999|1|1|1|0.9999|1|0.9997|0.9998|0.9996|1|1|1|1|1|1|0.9999|1|0.9996|1|AFR&AMR&EAS&EUR&SAS&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_OTH&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_OTH|benign|0&1|1&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|missense_variant|MODERATE|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding|9/13||ENST00000617307.5:c.1030T>C|ENSP00000482090.2:p.Trp344Arg|1030|1030|344|W/R|Tgg/Cgg|rs6672356&COSV58985794||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1|tolerated(1)|benign(0)||||1.0000|1|1|1|1|1|0.9999|0.9994|0.9999|1|1|1|0.9999|1|0.9997|0.9998|0.9996|1|1|1|1|1|1|0.9999|1|0.9996|1|AFR&AMR&EAS&EUR&SAS&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_OTH&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_OTH|benign|0&1|1&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|missense_variant|MODERATE|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding|6/10||ENST00000618181.5:c.652T>C|ENSP00000480870.1:p.Trp218Arg|652|652|218|W/R|Tgg/Cgg|rs6672356&COSV58985794||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1|tolerated(1)|benign(0)||||1.0000|1|1|1|1|1|0.9999|0.9994|0.9999|1|1|1|0.9999|1|0.9997|0.9998|0.9996|1|1|1|1|1|1|0.9999|1|0.9996|1|AFR&AMR&EAS&EUR&SAS&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_OTH&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_OTH|benign|0&1|1&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|missense_variant|MODERATE|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding|10/14||ENST00000618323.5:c.1519T>C|ENSP00000480678.2:p.Trp507Arg|2028|1519|507|W/R|Tgg/Cgg|rs6672356&COSV58985794||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1|tolerated_low_confidence(1)|benign(0)||||1.0000|1|1|1|1|1|0.9999|0.9994|0.9999|1|1|1|0.9999|1|0.9997|0.9998|0.9996|1|1|1|1|1|1|0.9999|1|0.9996|1|AFR&AMR&EAS&EUR&SAS&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_OTH&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_OTH|benign|0&1|1&1||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|missense_variant|MODERATE|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding|8/12||ENST00000618779.5:c.841T>C|ENSP00000484256.1:p.Trp281Arg|841|841|281|W/R|Tgg/Cgg|rs6672356&COSV58985794||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1|tolerated(1)|benign(0)||||1.0000|1|1|1|1|1|0.9999|0.9994|0.9999|1|1|1|0.9999|1|0.9997|0.9998|0.9996|1|1|1|1|1|1|0.9999|1|0.9996|1|AFR&AMR&EAS&EUR&SAS&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_OTH&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_OTH|benign|0&1|1&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|missense_variant|MODERATE|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding|9/13||ENST00000622503.5:c.1030T>C|ENSP00000482138.1:p.Trp344Arg|1030|1030|344|W/R|Tgg/Cgg|rs6672356&COSV58985794||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1|tolerated(1)|benign(0)||||1.0000|1|1|1|1|1|0.9999|0.9994|0.9999|1|1|1|0.9999|1|0.9997|0.9998|0.9996|1|1|1|1|1|1|0.9999|1|0.9996|1|AFR&AMR&EAS&EUR&SAS&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_OTH&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_OTH|benign|0&1|1&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164803|promoter||||||||||rs6672356&COSV58985794||||SNV||||||||||||||||||||1.0000|1|1|1|1|1|0.9999|0.9994|0.9999|1|1|1|0.9999|1|0.9997|0.9998|0.9996|1|1|1|1|1|1|0.9999|1|0.9996|1|AFR&AMR&EAS&EUR&SAS&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_OTH&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_OTH|benign|0&1|1&1|||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.764:2:0,2:0,0:0,2:0,0,0,2 -chr1 943946 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=25%2C21|1%2C1;DP=48;ECNT=1;GERMQ=93;MBQ=34,32;MFRL=0,0;MMQ=60,60;MPOS=117;POPAF=7.3;TLOD=4.44;SRC=custom;GRP=custom;CSQ=T|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||||||||||rs111371881|257|-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||0.0012|0.0045|0|0|0|0|0.0002238|0.003439|8.695e-05|0|0|0|0|0|0|0.000946|0.003402|0|0.0001308|0|0|0|0|0|0.0004776|0|0.0045|AFR|benign||1||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,T|synonymous_variant|LOW|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding|12/12||ENST00000341065.8:c.1563C>T|ENSP00000349216.4:p.Ser521%3D|1562|1563|521|S|agC/agT|rs111371881||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.0012|0.0045|0|0|0|0|0.0002238|0.003439|8.695e-05|0|0|0|0|0|0|0.000946|0.003402|0|0.0001308|0|0|0|0|0|0.0004776|0|0.0045|AFR|benign||1||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|synonymous_variant|LOW|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding|14/14||ENST00000342066.8:c.1839C>T|ENSP00000342313.3:p.Ser613%3D|1929|1839|613|S|agC/agT|rs111371881||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.0012|0.0045|0|0|0|0|0.0002238|0.003439|8.695e-05|0|0|0|0|0|0|0.000946|0.003402|0|0.0001308|0|0|0|0|0|0.0004776|0|0.0045|AFR|benign||1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|synonymous_variant|LOW|SAMD11|ENSG00000187634|Transcript|ENST00000455979|protein_coding|7/7||ENST00000455979.1:c.1419C>T|ENSP00000412228.1:p.Ser473%3D|1418|1419|473|S|agC/agT|rs111371881||1|cds_start_NF|SNV|HGNC|HGNC:28706||||2|||ENSP00000412228||H7C3J6.55|UPI000155D479||1||||||0.0012|0.0045|0|0|0|0|0.0002238|0.003439|8.695e-05|0|0|0|0|0|0|0.000946|0.003402|0|0.0001308|0|0|0|0|0|0.0004776|0|0.0045|AFR|benign||1||||||||XALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVRRWGVRSGSPDHSWAESSGWVCDSPHQAISLQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000464948|retained_intron||||||||||rs111371881|1054|1||SNV|HGNC|HGNC:28706||||2||||||||1||||||0.0012|0.0045|0|0|0|0|0.0002238|0.003439|8.695e-05|0|0|0|0|0|0|0.000946|0.003402|0|0.0001308|0|0|0|0|0|0.0004776|0|0.0045|AFR|benign||1||||||||||,T|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000466827|retained_intron||||||||||rs111371881|1144|1||SNV|HGNC|HGNC:28706||||3||||||||1||||||0.0012|0.0045|0|0|0|0|0.0002238|0.003439|8.695e-05|0|0|0|0|0|0|0.000946|0.003402|0|0.0001308|0|0|0|0|0|0.0004776|0|0.0045|AFR|benign||1||||||||||,T|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000474461|retained_intron||||||||||rs111371881|952|1||SNV|HGNC|HGNC:28706||||5||||||||1||||||0.0012|0.0045|0|0|0|0|0.0002238|0.003439|8.695e-05|0|0|0|0|0|0|0.000946|0.003402|0|0.0001308|0|0|0|0|0|0.0004776|0|0.0045|AFR|benign||1||||||||||,T|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron||||||||||rs111371881|259|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.0012|0.0045|0|0|0|0|0.0002238|0.003439|8.695e-05|0|0|0|0|0|0|0.000946|0.003402|0|0.0001308|0|0|0|0|0|0.0004776|0|0.0045|AFR|benign||1||||||||||,T|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000478729|protein_coding_CDS_not_defined||||||||||rs111371881|1773|1||SNV|HGNC|HGNC:28706||||5||||||||1||||||0.0012|0.0045|0|0|0|0|0.0002238|0.003439|8.695e-05|0|0|0|0|0|0|0.000946|0.003402|0|0.0001308|0|0|0|0|0|0.0004776|0|0.0045|AFR|benign||1||||||||||,T|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000483767|retained_intron||||||||||rs111371881|258|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||0.0012|0.0045|0|0|0|0|0.0002238|0.003439|8.695e-05|0|0|0|0|0|0|0.000946|0.003402|0|0.0001308|0|0|0|0|0|0.0004776|0|0.0045|AFR|benign||1||||||||||,T|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000496938|protein_coding_CDS_not_defined||||||||||rs111371881|1373|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.0012|0.0045|0|0|0|0|0.0002238|0.003439|8.695e-05|0|0|0|0|0|0|0.000946|0.003402|0|0.0001308|0|0|0|0|0|0.0004776|0|0.0045|AFR|benign||1||||||||||,T|synonymous_variant|LOW|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding|14/14||ENST00000616016.5:c.2328C>T|ENSP00000478421.2:p.Ser776%3D|2837|2328|776|S|agC/agT|rs111371881||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.0012|0.0045|0|0|0|0|0.0002238|0.003439|8.695e-05|0|0|0|0|0|0|0.000946|0.003402|0|0.0001308|0|0|0|0|0|0.0004776|0|0.0045|AFR|benign||1||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|synonymous_variant|LOW|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding|11/11||ENST00000616125.5:c.1515C>T|ENSP00000484643.1:p.Ser505%3D|1515|1515|505|S|agC/agT|rs111371881||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.0012|0.0045|0|0|0|0|0.0002238|0.003439|8.695e-05|0|0|0|0|0|0|0.000946|0.003402|0|0.0001308|0|0|0|0|0|0.0004776|0|0.0045|AFR|benign||1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||12/12|ENST00000617307.5:c.1804-25C>T|||||||rs111371881||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.0012|0.0045|0|0|0|0|0.0002238|0.003439|8.695e-05|0|0|0|0|0|0|0.000946|0.003402|0|0.0001308|0|0|0|0|0|0.0004776|0|0.0045|AFR|benign||1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|synonymous_variant|LOW|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding|10/10||ENST00000618181.5:c.1464C>T|ENSP00000480870.1:p.Ser488%3D|1464|1464|488|S|agC/agT|rs111371881||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.0012|0.0045|0|0|0|0|0.0002238|0.003439|8.695e-05|0|0|0|0|0|0|0.000946|0.003402|0|0.0001308|0|0|0|0|0|0.0004776|0|0.0045|AFR|benign||1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|synonymous_variant|LOW|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding|14/14||ENST00000618323.5:c.2331C>T|ENSP00000480678.2:p.Ser777%3D|2840|2331|777|S|agC/agT|rs111371881||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.0012|0.0045|0|0|0|0|0.0002238|0.003439|8.695e-05|0|0|0|0|0|0|0.000946|0.003402|0|0.0001308|0|0|0|0|0|0.0004776|0|0.0045|AFR|benign||1||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|synonymous_variant|LOW|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding|12/12||ENST00000618779.5:c.1653C>T|ENSP00000484256.1:p.Ser551%3D|1653|1653|551|S|agC/agT|rs111371881||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.0012|0.0045|0|0|0|0|0.0002238|0.003439|8.695e-05|0|0|0|0|0|0|0.000946|0.003402|0|0.0001308|0|0|0|0|0|0.0004776|0|0.0045|AFR|benign||1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|synonymous_variant|LOW|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding|13/13||ENST00000622503.5:c.1842C>T|ENSP00000482138.1:p.Ser614%3D|1842|1842|614|S|agC/agT|rs111371881||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.0012|0.0045|0|0|0|0|0.0002238|0.003439|8.695e-05|0|0|0|0|0|0|0.000946|0.003402|0|0.0001308|0|0|0|0|0|0.0004776|0|0.0045|AFR|benign||1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164803|promoter||||||||||rs111371881||||SNV||||||||||||||||||||0.0012|0.0045|0|0|0|0|0.0002238|0.003439|8.695e-05|0|0|0|0|0|0|0.000946|0.003402|0|0.0001308|0|0|0|0|0|0.0004776|0|0.0045|AFR|benign||1|||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:46,2:0.067:48:2,0:25,1:27,1:25,21,1,1 -chr1 944296 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|55%2C48;DP=106;ECNT=3;GERMQ=93;MBQ=29,32;MFRL=0,0;MMQ=60,60;MPOS=89;POPAF=7.3;TLOD=367.81;SRC=custom;GRP=custom;CSQ=A|3_prime_UTR_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding|19/19||ENST00000327044.7:c.*398C>T||2664|||||rs6605067&COSV58988623||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||0.8860|0.7867|0.9006|0.9137|0.9473|0.9182||||||||||0.904|0.8089|0.9638|0.9161|0.9271|0.9196|0.9666|0.9272|0.9448|0.9077|0.9215|0.9666|gnomADg_FIN||0&1|0&1||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,A|3_prime_UTR_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding|12/12||ENST00000341065.8:c.*143G>A||1912|||||rs6605067&COSV58988623||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.8860|0.7867|0.9006|0.9137|0.9473|0.9182||||||||||0.904|0.8089|0.9638|0.9161|0.9271|0.9196|0.9666|0.9272|0.9448|0.9077|0.9215|0.9666|gnomADg_FIN||0&1|0&1||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|3_prime_UTR_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding|14/14||ENST00000342066.8:c.*143G>A||2279|||||rs6605067&COSV58988623||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.8860|0.7867|0.9006|0.9137|0.9473|0.9182||||||||||0.904|0.8089|0.9638|0.9161|0.9271|0.9196|0.9666|0.9272|0.9448|0.9077|0.9215|0.9666|gnomADg_FIN||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000455979|protein_coding||||||||||rs6605067&COSV58988623|37|1|cds_start_NF|SNV|HGNC|HGNC:28706||||2|||ENSP00000412228||H7C3J6.55|UPI000155D479||1||||||0.8860|0.7867|0.9006|0.9137|0.9473|0.9182||||||||||0.904|0.8089|0.9638|0.9161|0.9271|0.9196|0.9666|0.9272|0.9448|0.9077|0.9215|0.9666|gnomADg_FIN||0&1|0&1||||||||XALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVRRWGVRSGSPDHSWAESSGWVCDSPHQAISLQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000464948|retained_intron||||||||||rs6605067&COSV58988623|1404|1||SNV|HGNC|HGNC:28706||||2||||||||1||||||0.8860|0.7867|0.9006|0.9137|0.9473|0.9182||||||||||0.904|0.8089|0.9638|0.9161|0.9271|0.9196|0.9666|0.9272|0.9448|0.9077|0.9215|0.9666|gnomADg_FIN||0&1|0&1||||||||||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000466827|retained_intron||||||||||rs6605067&COSV58988623|1494|1||SNV|HGNC|HGNC:28706||||3||||||||1||||||0.8860|0.7867|0.9006|0.9137|0.9473|0.9182||||||||||0.904|0.8089|0.9638|0.9161|0.9271|0.9196|0.9666|0.9272|0.9448|0.9077|0.9215|0.9666|gnomADg_FIN||0&1|0&1||||||||||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000474461|retained_intron||||||||||rs6605067&COSV58988623|1302|1||SNV|HGNC|HGNC:28706||||5||||||||1||||||0.8860|0.7867|0.9006|0.9137|0.9473|0.9182||||||||||0.904|0.8089|0.9638|0.9161|0.9271|0.9196|0.9666|0.9272|0.9448|0.9077|0.9215|0.9666|gnomADg_FIN||0&1|0&1||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron|17/17||ENST00000477976.5:n.4110C>T||4110|||||rs6605067&COSV58988623||-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.8860|0.7867|0.9006|0.9137|0.9473|0.9182||||||||||0.904|0.8089|0.9638|0.9161|0.9271|0.9196|0.9666|0.9272|0.9448|0.9077|0.9215|0.9666|gnomADg_FIN||0&1|0&1||||||||||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000478729|protein_coding_CDS_not_defined||||||||||rs6605067&COSV58988623|2123|1||SNV|HGNC|HGNC:28706||||5||||||||1||||||0.8860|0.7867|0.9006|0.9137|0.9473|0.9182||||||||||0.904|0.8089|0.9638|0.9161|0.9271|0.9196|0.9666|0.9272|0.9448|0.9077|0.9215|0.9666|gnomADg_FIN||0&1|0&1||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000483767|retained_intron|5/5||ENST00000483767.5:n.1519C>T||1519|||||rs6605067&COSV58988623||-1||SNV|HGNC|HGNC:24517||||2||||||||||||||0.8860|0.7867|0.9006|0.9137|0.9473|0.9182||||||||||0.904|0.8089|0.9638|0.9161|0.9271|0.9196|0.9666|0.9272|0.9448|0.9077|0.9215|0.9666|gnomADg_FIN||0&1|0&1||||||||||,A|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000496938|protein_coding_CDS_not_defined||||||||||rs6605067&COSV58988623|1023|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.8860|0.7867|0.9006|0.9137|0.9473|0.9182||||||||||0.904|0.8089|0.9638|0.9161|0.9271|0.9196|0.9666|0.9272|0.9448|0.9077|0.9215|0.9666|gnomADg_FIN||0&1|0&1||||||||||,A|3_prime_UTR_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding|14/14||ENST00000616016.5:c.*143G>A||3187|||||rs6605067&COSV58988623||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.8860|0.7867|0.9006|0.9137|0.9473|0.9182||||||||||0.904|0.8089|0.9638|0.9161|0.9271|0.9196|0.9666|0.9272|0.9448|0.9077|0.9215|0.9666|gnomADg_FIN||0&1|0&1||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||||||||||rs6605067&COSV58988623|143|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.8860|0.7867|0.9006|0.9137|0.9473|0.9182||||||||||0.904|0.8089|0.9638|0.9161|0.9271|0.9196|0.9666|0.9272|0.9448|0.9077|0.9215|0.9666|gnomADg_FIN||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||||||||||rs6605067&COSV58988623|143|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.8860|0.7867|0.9006|0.9137|0.9473|0.9182||||||||||0.904|0.8089|0.9638|0.9161|0.9271|0.9196|0.9666|0.9272|0.9448|0.9077|0.9215|0.9666|gnomADg_FIN||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||||||||||rs6605067&COSV58988623|143|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.8860|0.7867|0.9006|0.9137|0.9473|0.9182||||||||||0.904|0.8089|0.9638|0.9161|0.9271|0.9196|0.9666|0.9272|0.9448|0.9077|0.9215|0.9666|gnomADg_FIN||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|3_prime_UTR_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding|14/14||ENST00000618323.5:c.*143G>A||3190|||||rs6605067&COSV58988623||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.8860|0.7867|0.9006|0.9137|0.9473|0.9182||||||||||0.904|0.8089|0.9638|0.9161|0.9271|0.9196|0.9666|0.9272|0.9448|0.9077|0.9215|0.9666|gnomADg_FIN||0&1|0&1||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||||||||||rs6605067&COSV58988623|143|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.8860|0.7867|0.9006|0.9137|0.9473|0.9182||||||||||0.904|0.8089|0.9638|0.9161|0.9271|0.9196|0.9666|0.9272|0.9448|0.9077|0.9215|0.9666|gnomADg_FIN||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||||||||||rs6605067&COSV58988623|143|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.8860|0.7867|0.9006|0.9137|0.9473|0.9182||||||||||0.904|0.8089|0.9638|0.9161|0.9271|0.9196|0.9666|0.9272|0.9448|0.9077|0.9215|0.9666|gnomADg_FIN||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,103:0.984:105:0,0:0,55:0,60:1,1,55,48 -chr1 944296 . G A . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|51%2C45;DP=98;ECNT=4;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=99;POPAF=7.3;TLOD=428.91;SRC=custom;GRP=custom;CSQ=A|3_prime_UTR_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding|19/19||ENST00000327044.7:c.*398C>T||2664|||||rs6605067&COSV58988623||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||0.8860|0.7867|0.9006|0.9137|0.9473|0.9182||||||||||0.904|0.8089|0.9638|0.9161|0.9271|0.9196|0.9666|0.9272|0.9448|0.9077|0.9215|0.9666|gnomADg_FIN||0&1|0&1||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,A|3_prime_UTR_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding|12/12||ENST00000341065.8:c.*143G>A||1912|||||rs6605067&COSV58988623||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.8860|0.7867|0.9006|0.9137|0.9473|0.9182||||||||||0.904|0.8089|0.9638|0.9161|0.9271|0.9196|0.9666|0.9272|0.9448|0.9077|0.9215|0.9666|gnomADg_FIN||0&1|0&1||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|3_prime_UTR_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding|14/14||ENST00000342066.8:c.*143G>A||2279|||||rs6605067&COSV58988623||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.8860|0.7867|0.9006|0.9137|0.9473|0.9182||||||||||0.904|0.8089|0.9638|0.9161|0.9271|0.9196|0.9666|0.9272|0.9448|0.9077|0.9215|0.9666|gnomADg_FIN||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000455979|protein_coding||||||||||rs6605067&COSV58988623|37|1|cds_start_NF|SNV|HGNC|HGNC:28706||||2|||ENSP00000412228||H7C3J6.55|UPI000155D479||1||||||0.8860|0.7867|0.9006|0.9137|0.9473|0.9182||||||||||0.904|0.8089|0.9638|0.9161|0.9271|0.9196|0.9666|0.9272|0.9448|0.9077|0.9215|0.9666|gnomADg_FIN||0&1|0&1||||||||XALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVRRWGVRSGSPDHSWAESSGWVCDSPHQAISLQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000464948|retained_intron||||||||||rs6605067&COSV58988623|1404|1||SNV|HGNC|HGNC:28706||||2||||||||1||||||0.8860|0.7867|0.9006|0.9137|0.9473|0.9182||||||||||0.904|0.8089|0.9638|0.9161|0.9271|0.9196|0.9666|0.9272|0.9448|0.9077|0.9215|0.9666|gnomADg_FIN||0&1|0&1||||||||||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000466827|retained_intron||||||||||rs6605067&COSV58988623|1494|1||SNV|HGNC|HGNC:28706||||3||||||||1||||||0.8860|0.7867|0.9006|0.9137|0.9473|0.9182||||||||||0.904|0.8089|0.9638|0.9161|0.9271|0.9196|0.9666|0.9272|0.9448|0.9077|0.9215|0.9666|gnomADg_FIN||0&1|0&1||||||||||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000474461|retained_intron||||||||||rs6605067&COSV58988623|1302|1||SNV|HGNC|HGNC:28706||||5||||||||1||||||0.8860|0.7867|0.9006|0.9137|0.9473|0.9182||||||||||0.904|0.8089|0.9638|0.9161|0.9271|0.9196|0.9666|0.9272|0.9448|0.9077|0.9215|0.9666|gnomADg_FIN||0&1|0&1||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron|17/17||ENST00000477976.5:n.4110C>T||4110|||||rs6605067&COSV58988623||-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.8860|0.7867|0.9006|0.9137|0.9473|0.9182||||||||||0.904|0.8089|0.9638|0.9161|0.9271|0.9196|0.9666|0.9272|0.9448|0.9077|0.9215|0.9666|gnomADg_FIN||0&1|0&1||||||||||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000478729|protein_coding_CDS_not_defined||||||||||rs6605067&COSV58988623|2123|1||SNV|HGNC|HGNC:28706||||5||||||||1||||||0.8860|0.7867|0.9006|0.9137|0.9473|0.9182||||||||||0.904|0.8089|0.9638|0.9161|0.9271|0.9196|0.9666|0.9272|0.9448|0.9077|0.9215|0.9666|gnomADg_FIN||0&1|0&1||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000483767|retained_intron|5/5||ENST00000483767.5:n.1519C>T||1519|||||rs6605067&COSV58988623||-1||SNV|HGNC|HGNC:24517||||2||||||||||||||0.8860|0.7867|0.9006|0.9137|0.9473|0.9182||||||||||0.904|0.8089|0.9638|0.9161|0.9271|0.9196|0.9666|0.9272|0.9448|0.9077|0.9215|0.9666|gnomADg_FIN||0&1|0&1||||||||||,A|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000496938|protein_coding_CDS_not_defined||||||||||rs6605067&COSV58988623|1023|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.8860|0.7867|0.9006|0.9137|0.9473|0.9182||||||||||0.904|0.8089|0.9638|0.9161|0.9271|0.9196|0.9666|0.9272|0.9448|0.9077|0.9215|0.9666|gnomADg_FIN||0&1|0&1||||||||||,A|3_prime_UTR_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding|14/14||ENST00000616016.5:c.*143G>A||3187|||||rs6605067&COSV58988623||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.8860|0.7867|0.9006|0.9137|0.9473|0.9182||||||||||0.904|0.8089|0.9638|0.9161|0.9271|0.9196|0.9666|0.9272|0.9448|0.9077|0.9215|0.9666|gnomADg_FIN||0&1|0&1||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||||||||||rs6605067&COSV58988623|143|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.8860|0.7867|0.9006|0.9137|0.9473|0.9182||||||||||0.904|0.8089|0.9638|0.9161|0.9271|0.9196|0.9666|0.9272|0.9448|0.9077|0.9215|0.9666|gnomADg_FIN||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||||||||||rs6605067&COSV58988623|143|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.8860|0.7867|0.9006|0.9137|0.9473|0.9182||||||||||0.904|0.8089|0.9638|0.9161|0.9271|0.9196|0.9666|0.9272|0.9448|0.9077|0.9215|0.9666|gnomADg_FIN||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||||||||||rs6605067&COSV58988623|143|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.8860|0.7867|0.9006|0.9137|0.9473|0.9182||||||||||0.904|0.8089|0.9638|0.9161|0.9271|0.9196|0.9666|0.9272|0.9448|0.9077|0.9215|0.9666|gnomADg_FIN||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|3_prime_UTR_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding|14/14||ENST00000618323.5:c.*143G>A||3190|||||rs6605067&COSV58988623||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.8860|0.7867|0.9006|0.9137|0.9473|0.9182||||||||||0.904|0.8089|0.9638|0.9161|0.9271|0.9196|0.9666|0.9272|0.9448|0.9077|0.9215|0.9666|gnomADg_FIN||0&1|0&1||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||||||||||rs6605067&COSV58988623|143|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.8860|0.7867|0.9006|0.9137|0.9473|0.9182||||||||||0.904|0.8089|0.9638|0.9161|0.9271|0.9196|0.9666|0.9272|0.9448|0.9077|0.9215|0.9666|gnomADg_FIN||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||||||||||rs6605067&COSV58988623|143|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.8860|0.7867|0.9006|0.9137|0.9473|0.9182||||||||||0.904|0.8089|0.9638|0.9161|0.9271|0.9196|0.9666|0.9272|0.9448|0.9077|0.9215|0.9666|gnomADg_FIN||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,96:0.982:96:0,0:0,50:0,53:0|1:944296_G_A:944296:0,0,51,45 -chr1 944307 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|55%2C51;DP=107;ECNT=3;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=85;POPAF=7.3;TLOD=398.76;SRC=custom;GRP=custom;CSQ=C|3_prime_UTR_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding|19/19||ENST00000327044.7:c.*387A>G||2653|||||rs2839&COSV58988633||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||0.9211|0.9062|0.9193|0.9137|0.9523|0.9182||||||||||0.9341|0.9091|0.9638|0.9329|0.9274|0.9194|0.9666|0.9304|0.9465|0.9336|0.9219|0.9666|gnomADg_FIN||0&1|0&1||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,C|3_prime_UTR_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding|12/12||ENST00000341065.8:c.*154T>C||1923|||||rs2839&COSV58988633||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.9211|0.9062|0.9193|0.9137|0.9523|0.9182||||||||||0.9341|0.9091|0.9638|0.9329|0.9274|0.9194|0.9666|0.9304|0.9465|0.9336|0.9219|0.9666|gnomADg_FIN||0&1|0&1||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|3_prime_UTR_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding|14/14||ENST00000342066.8:c.*154T>C||2290|||||rs2839&COSV58988633||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.9211|0.9062|0.9193|0.9137|0.9523|0.9182||||||||||0.9341|0.9091|0.9638|0.9329|0.9274|0.9194|0.9666|0.9304|0.9465|0.9336|0.9219|0.9666|gnomADg_FIN||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000455979|protein_coding||||||||||rs2839&COSV58988633|48|1|cds_start_NF|SNV|HGNC|HGNC:28706||||2|||ENSP00000412228||H7C3J6.55|UPI000155D479||1||||||0.9211|0.9062|0.9193|0.9137|0.9523|0.9182||||||||||0.9341|0.9091|0.9638|0.9329|0.9274|0.9194|0.9666|0.9304|0.9465|0.9336|0.9219|0.9666|gnomADg_FIN||0&1|0&1||||||||XALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVRRWGVRSGSPDHSWAESSGWVCDSPHQAISLQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000464948|retained_intron||||||||||rs2839&COSV58988633|1415|1||SNV|HGNC|HGNC:28706||||2||||||||1||||||0.9211|0.9062|0.9193|0.9137|0.9523|0.9182||||||||||0.9341|0.9091|0.9638|0.9329|0.9274|0.9194|0.9666|0.9304|0.9465|0.9336|0.9219|0.9666|gnomADg_FIN||0&1|0&1||||||||||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000466827|retained_intron||||||||||rs2839&COSV58988633|1505|1||SNV|HGNC|HGNC:28706||||3||||||||1||||||0.9211|0.9062|0.9193|0.9137|0.9523|0.9182||||||||||0.9341|0.9091|0.9638|0.9329|0.9274|0.9194|0.9666|0.9304|0.9465|0.9336|0.9219|0.9666|gnomADg_FIN||0&1|0&1||||||||||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000474461|retained_intron||||||||||rs2839&COSV58988633|1313|1||SNV|HGNC|HGNC:28706||||5||||||||1||||||0.9211|0.9062|0.9193|0.9137|0.9523|0.9182||||||||||0.9341|0.9091|0.9638|0.9329|0.9274|0.9194|0.9666|0.9304|0.9465|0.9336|0.9219|0.9666|gnomADg_FIN||0&1|0&1||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron|17/17||ENST00000477976.5:n.4099A>G||4099|||||rs2839&COSV58988633||-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.9211|0.9062|0.9193|0.9137|0.9523|0.9182||||||||||0.9341|0.9091|0.9638|0.9329|0.9274|0.9194|0.9666|0.9304|0.9465|0.9336|0.9219|0.9666|gnomADg_FIN||0&1|0&1||||||||||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000478729|protein_coding_CDS_not_defined||||||||||rs2839&COSV58988633|2134|1||SNV|HGNC|HGNC:28706||||5||||||||1||||||0.9211|0.9062|0.9193|0.9137|0.9523|0.9182||||||||||0.9341|0.9091|0.9638|0.9329|0.9274|0.9194|0.9666|0.9304|0.9465|0.9336|0.9219|0.9666|gnomADg_FIN||0&1|0&1||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000483767|retained_intron|5/5||ENST00000483767.5:n.1508A>G||1508|||||rs2839&COSV58988633||-1||SNV|HGNC|HGNC:24517||||2||||||||||||||0.9211|0.9062|0.9193|0.9137|0.9523|0.9182||||||||||0.9341|0.9091|0.9638|0.9329|0.9274|0.9194|0.9666|0.9304|0.9465|0.9336|0.9219|0.9666|gnomADg_FIN||0&1|0&1||||||||||,C|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000496938|protein_coding_CDS_not_defined||||||||||rs2839&COSV58988633|1012|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.9211|0.9062|0.9193|0.9137|0.9523|0.9182||||||||||0.9341|0.9091|0.9638|0.9329|0.9274|0.9194|0.9666|0.9304|0.9465|0.9336|0.9219|0.9666|gnomADg_FIN||0&1|0&1||||||||||,C|3_prime_UTR_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding|14/14||ENST00000616016.5:c.*154T>C||3198|||||rs2839&COSV58988633||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.9211|0.9062|0.9193|0.9137|0.9523|0.9182||||||||||0.9341|0.9091|0.9638|0.9329|0.9274|0.9194|0.9666|0.9304|0.9465|0.9336|0.9219|0.9666|gnomADg_FIN||0&1|0&1||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||||||||||rs2839&COSV58988633|154|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.9211|0.9062|0.9193|0.9137|0.9523|0.9182||||||||||0.9341|0.9091|0.9638|0.9329|0.9274|0.9194|0.9666|0.9304|0.9465|0.9336|0.9219|0.9666|gnomADg_FIN||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||||||||||rs2839&COSV58988633|154|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.9211|0.9062|0.9193|0.9137|0.9523|0.9182||||||||||0.9341|0.9091|0.9638|0.9329|0.9274|0.9194|0.9666|0.9304|0.9465|0.9336|0.9219|0.9666|gnomADg_FIN||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||||||||||rs2839&COSV58988633|154|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.9211|0.9062|0.9193|0.9137|0.9523|0.9182||||||||||0.9341|0.9091|0.9638|0.9329|0.9274|0.9194|0.9666|0.9304|0.9465|0.9336|0.9219|0.9666|gnomADg_FIN||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|3_prime_UTR_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding|14/14||ENST00000618323.5:c.*154T>C||3201|||||rs2839&COSV58988633||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.9211|0.9062|0.9193|0.9137|0.9523|0.9182||||||||||0.9341|0.9091|0.9638|0.9329|0.9274|0.9194|0.9666|0.9304|0.9465|0.9336|0.9219|0.9666|gnomADg_FIN||0&1|0&1||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||||||||||rs2839&COSV58988633|154|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.9211|0.9062|0.9193|0.9137|0.9523|0.9182||||||||||0.9341|0.9091|0.9638|0.9329|0.9274|0.9194|0.9666|0.9304|0.9465|0.9336|0.9219|0.9666|gnomADg_FIN||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||||||||||rs2839&COSV58988633|154|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.9211|0.9062|0.9193|0.9137|0.9523|0.9182||||||||||0.9341|0.9091|0.9638|0.9329|0.9274|0.9194|0.9666|0.9304|0.9465|0.9336|0.9219|0.9666|gnomADg_FIN||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,106:0.984:106:0,0:0,55:0,62:0,0,55,51 -chr1 944307 . T C . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|51%2C45;DP=99;ECNT=4;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=95;POPAF=7.3;TLOD=428.92;SRC=custom;GRP=custom;CSQ=C|3_prime_UTR_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding|19/19||ENST00000327044.7:c.*387A>G||2653|||||rs2839&COSV58988633||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||0.9211|0.9062|0.9193|0.9137|0.9523|0.9182||||||||||0.9341|0.9091|0.9638|0.9329|0.9274|0.9194|0.9666|0.9304|0.9465|0.9336|0.9219|0.9666|gnomADg_FIN||0&1|0&1||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,C|3_prime_UTR_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding|12/12||ENST00000341065.8:c.*154T>C||1923|||||rs2839&COSV58988633||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.9211|0.9062|0.9193|0.9137|0.9523|0.9182||||||||||0.9341|0.9091|0.9638|0.9329|0.9274|0.9194|0.9666|0.9304|0.9465|0.9336|0.9219|0.9666|gnomADg_FIN||0&1|0&1||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|3_prime_UTR_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding|14/14||ENST00000342066.8:c.*154T>C||2290|||||rs2839&COSV58988633||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.9211|0.9062|0.9193|0.9137|0.9523|0.9182||||||||||0.9341|0.9091|0.9638|0.9329|0.9274|0.9194|0.9666|0.9304|0.9465|0.9336|0.9219|0.9666|gnomADg_FIN||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000455979|protein_coding||||||||||rs2839&COSV58988633|48|1|cds_start_NF|SNV|HGNC|HGNC:28706||||2|||ENSP00000412228||H7C3J6.55|UPI000155D479||1||||||0.9211|0.9062|0.9193|0.9137|0.9523|0.9182||||||||||0.9341|0.9091|0.9638|0.9329|0.9274|0.9194|0.9666|0.9304|0.9465|0.9336|0.9219|0.9666|gnomADg_FIN||0&1|0&1||||||||XALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVRRWGVRSGSPDHSWAESSGWVCDSPHQAISLQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000464948|retained_intron||||||||||rs2839&COSV58988633|1415|1||SNV|HGNC|HGNC:28706||||2||||||||1||||||0.9211|0.9062|0.9193|0.9137|0.9523|0.9182||||||||||0.9341|0.9091|0.9638|0.9329|0.9274|0.9194|0.9666|0.9304|0.9465|0.9336|0.9219|0.9666|gnomADg_FIN||0&1|0&1||||||||||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000466827|retained_intron||||||||||rs2839&COSV58988633|1505|1||SNV|HGNC|HGNC:28706||||3||||||||1||||||0.9211|0.9062|0.9193|0.9137|0.9523|0.9182||||||||||0.9341|0.9091|0.9638|0.9329|0.9274|0.9194|0.9666|0.9304|0.9465|0.9336|0.9219|0.9666|gnomADg_FIN||0&1|0&1||||||||||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000474461|retained_intron||||||||||rs2839&COSV58988633|1313|1||SNV|HGNC|HGNC:28706||||5||||||||1||||||0.9211|0.9062|0.9193|0.9137|0.9523|0.9182||||||||||0.9341|0.9091|0.9638|0.9329|0.9274|0.9194|0.9666|0.9304|0.9465|0.9336|0.9219|0.9666|gnomADg_FIN||0&1|0&1||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron|17/17||ENST00000477976.5:n.4099A>G||4099|||||rs2839&COSV58988633||-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.9211|0.9062|0.9193|0.9137|0.9523|0.9182||||||||||0.9341|0.9091|0.9638|0.9329|0.9274|0.9194|0.9666|0.9304|0.9465|0.9336|0.9219|0.9666|gnomADg_FIN||0&1|0&1||||||||||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000478729|protein_coding_CDS_not_defined||||||||||rs2839&COSV58988633|2134|1||SNV|HGNC|HGNC:28706||||5||||||||1||||||0.9211|0.9062|0.9193|0.9137|0.9523|0.9182||||||||||0.9341|0.9091|0.9638|0.9329|0.9274|0.9194|0.9666|0.9304|0.9465|0.9336|0.9219|0.9666|gnomADg_FIN||0&1|0&1||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000483767|retained_intron|5/5||ENST00000483767.5:n.1508A>G||1508|||||rs2839&COSV58988633||-1||SNV|HGNC|HGNC:24517||||2||||||||||||||0.9211|0.9062|0.9193|0.9137|0.9523|0.9182||||||||||0.9341|0.9091|0.9638|0.9329|0.9274|0.9194|0.9666|0.9304|0.9465|0.9336|0.9219|0.9666|gnomADg_FIN||0&1|0&1||||||||||,C|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000496938|protein_coding_CDS_not_defined||||||||||rs2839&COSV58988633|1012|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.9211|0.9062|0.9193|0.9137|0.9523|0.9182||||||||||0.9341|0.9091|0.9638|0.9329|0.9274|0.9194|0.9666|0.9304|0.9465|0.9336|0.9219|0.9666|gnomADg_FIN||0&1|0&1||||||||||,C|3_prime_UTR_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding|14/14||ENST00000616016.5:c.*154T>C||3198|||||rs2839&COSV58988633||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.9211|0.9062|0.9193|0.9137|0.9523|0.9182||||||||||0.9341|0.9091|0.9638|0.9329|0.9274|0.9194|0.9666|0.9304|0.9465|0.9336|0.9219|0.9666|gnomADg_FIN||0&1|0&1||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||||||||||rs2839&COSV58988633|154|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.9211|0.9062|0.9193|0.9137|0.9523|0.9182||||||||||0.9341|0.9091|0.9638|0.9329|0.9274|0.9194|0.9666|0.9304|0.9465|0.9336|0.9219|0.9666|gnomADg_FIN||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||||||||||rs2839&COSV58988633|154|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.9211|0.9062|0.9193|0.9137|0.9523|0.9182||||||||||0.9341|0.9091|0.9638|0.9329|0.9274|0.9194|0.9666|0.9304|0.9465|0.9336|0.9219|0.9666|gnomADg_FIN||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||||||||||rs2839&COSV58988633|154|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.9211|0.9062|0.9193|0.9137|0.9523|0.9182||||||||||0.9341|0.9091|0.9638|0.9329|0.9274|0.9194|0.9666|0.9304|0.9465|0.9336|0.9219|0.9666|gnomADg_FIN||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|3_prime_UTR_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding|14/14||ENST00000618323.5:c.*154T>C||3201|||||rs2839&COSV58988633||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.9211|0.9062|0.9193|0.9137|0.9523|0.9182||||||||||0.9341|0.9091|0.9638|0.9329|0.9274|0.9194|0.9666|0.9304|0.9465|0.9336|0.9219|0.9666|gnomADg_FIN||0&1|0&1||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||||||||||rs2839&COSV58988633|154|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.9211|0.9062|0.9193|0.9137|0.9523|0.9182||||||||||0.9341|0.9091|0.9638|0.9329|0.9274|0.9194|0.9666|0.9304|0.9465|0.9336|0.9219|0.9666|gnomADg_FIN||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||||||||||rs2839&COSV58988633|154|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.9211|0.9062|0.9193|0.9137|0.9523|0.9182||||||||||0.9341|0.9091|0.9638|0.9329|0.9274|0.9194|0.9666|0.9304|0.9465|0.9336|0.9219|0.9666|gnomADg_FIN||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,96:0.982:96:0,0:0,50:0,53:0|1:944296_G_A:944296:0,0,51,45 -chr1 944559 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=35%2C37|1%2C1;DP=74;ECNT=1;GERMQ=93;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=99;POPAF=7.3;TLOD=4.12;SRC=custom;GRP=custom;CSQ=C|3_prime_UTR_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding|19/19||ENST00000327044.7:c.*135A>G||2401|||||rs1445883791||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C|||||||||||||||||||||||1.316e-05|0|0|0.0001309|0|0|0|0|0|0|0|0.0001309|gnomADg_AMR|||||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,C|3_prime_UTR_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding|12/12||ENST00000341065.8:c.*406T>C||2175|||||rs1445883791||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1|||||||||||||||||||||1.316e-05|0|0|0.0001309|0|0|0|0|0|0|0|0.0001309|gnomADg_AMR|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|3_prime_UTR_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding|14/14||ENST00000342066.8:c.*406T>C||2542|||||rs1445883791||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1|||||||||||||||||||||1.316e-05|0|0|0.0001309|0|0|0|0|0|0|0|0.0001309|gnomADg_AMR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000455979|protein_coding||||||||||rs1445883791|300|1|cds_start_NF|SNV|HGNC|HGNC:28706||||2|||ENSP00000412228||H7C3J6.55|UPI000155D479||1|||||||||||||||||||||1.316e-05|0|0|0.0001309|0|0|0|0|0|0|0|0.0001309|gnomADg_AMR|||||||||||XALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVRRWGVRSGSPDHSWAESSGWVCDSPHQAISLQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000464948|retained_intron||||||||||rs1445883791|1667|1||SNV|HGNC|HGNC:28706||||2||||||||1|||||||||||||||||||||1.316e-05|0|0|0.0001309|0|0|0|0|0|0|0|0.0001309|gnomADg_AMR|||||||||||||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000466827|retained_intron||||||||||rs1445883791|1757|1||SNV|HGNC|HGNC:28706||||3||||||||1|||||||||||||||||||||1.316e-05|0|0|0.0001309|0|0|0|0|0|0|0|0.0001309|gnomADg_AMR|||||||||||||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000474461|retained_intron||||||||||rs1445883791|1565|1||SNV|HGNC|HGNC:28706||||5||||||||1|||||||||||||||||||||1.316e-05|0|0|0.0001309|0|0|0|0|0|0|0|0.0001309|gnomADg_AMR|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron|17/17||ENST00000477976.5:n.3847A>G||3847|||||rs1445883791||-1||SNV|HGNC|HGNC:24517||||5|||||||||||||||||||||||||||||1.316e-05|0|0|0.0001309|0|0|0|0|0|0|0|0.0001309|gnomADg_AMR|||||||||||||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000478729|protein_coding_CDS_not_defined||||||||||rs1445883791|2386|1||SNV|HGNC|HGNC:28706||||5||||||||1|||||||||||||||||||||1.316e-05|0|0|0.0001309|0|0|0|0|0|0|0|0.0001309|gnomADg_AMR|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000483767|retained_intron|5/5||ENST00000483767.5:n.1256A>G||1256|||||rs1445883791||-1||SNV|HGNC|HGNC:24517||||2|||||||||||||||||||||||||||||1.316e-05|0|0|0.0001309|0|0|0|0|0|0|0|0.0001309|gnomADg_AMR|||||||||||||,C|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000496938|protein_coding_CDS_not_defined||||||||||rs1445883791|760|-1||SNV|HGNC|HGNC:24517||||5|||||||||||||||||||||||||||||1.316e-05|0|0|0.0001309|0|0|0|0|0|0|0|0.0001309|gnomADg_AMR|||||||||||||,C|3_prime_UTR_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding|14/14||ENST00000616016.5:c.*406T>C||3450|||||rs1445883791||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1|||||||||||||||||||||1.316e-05|0|0|0.0001309|0|0|0|0|0|0|0|0.0001309|gnomADg_AMR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||||||||||rs1445883791|406|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1|||||||||||||||||||||1.316e-05|0|0|0.0001309|0|0|0|0|0|0|0|0.0001309|gnomADg_AMR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||||||||||rs1445883791|406|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1|||||||||||||||||||||1.316e-05|0|0|0.0001309|0|0|0|0|0|0|0|0.0001309|gnomADg_AMR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||||||||||rs1445883791|406|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1|||||||||||||||||||||1.316e-05|0|0|0.0001309|0|0|0|0|0|0|0|0.0001309|gnomADg_AMR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|3_prime_UTR_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding|14/14||ENST00000618323.5:c.*406T>C||3453|||||rs1445883791||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1|||||||||||||||||||||1.316e-05|0|0|0.0001309|0|0|0|0|0|0|0|0.0001309|gnomADg_AMR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||||||||||rs1445883791|406|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1|||||||||||||||||||||1.316e-05|0|0|0.0001309|0|0|0|0|0|0|0|0.0001309|gnomADg_AMR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||||||||||rs1445883791|406|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1|||||||||||||||||||||1.316e-05|0|0|0.0001309|0|0|0|0|0|0|0|0.0001309|gnomADg_AMR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000109|promoter||||||||||rs1445883791||||SNV|||||||||||||||||||||||||||||||||||1.316e-05|0|0|0.0001309|0|0|0|0|0|0|0|0.0001309|gnomADg_AMR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:72,2:0.042:74:8,0:35,1:45,1:35,37,1,1 -chr1 944573 . T A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=34%2C39|1%2C1;DP=82;ECNT=1;GERMQ=93;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=112;POPAF=7.3;TLOD=4.03;SRC=custom;GRP=custom;CSQ=A|3_prime_UTR_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding|19/19||ENST00000327044.7:c.*121A>T||2387|||||||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||||||||||||||||||||||||||||||||||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,A|3_prime_UTR_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding|12/12||ENST00000341065.8:c.*420T>A||2189|||||||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||||||||||||||||||||||||||||||||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|3_prime_UTR_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding|14/14||ENST00000342066.8:c.*420T>A||2556|||||||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000455979|protein_coding|||||||||||314|1|cds_start_NF|SNV|HGNC|HGNC:28706||||2|||ENSP00000412228||H7C3J6.55|UPI000155D479||1||||||||||||||||||||||||||||||||||||||||||||XALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVRRWGVRSGSPDHSWAESSGWVCDSPHQAISLQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000464948|retained_intron|||||||||||1681|1||SNV|HGNC|HGNC:28706||||2||||||||1||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000466827|retained_intron|||||||||||1771|1||SNV|HGNC|HGNC:28706||||3||||||||1||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000474461|retained_intron|||||||||||1579|1||SNV|HGNC|HGNC:28706||||5||||||||1||||||||||||||||||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron|17/17||ENST00000477976.5:n.3833A>T||3833|||||||-1||SNV|HGNC|HGNC:24517||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000478729|protein_coding_CDS_not_defined|||||||||||2400|1||SNV|HGNC|HGNC:28706||||5||||||||1||||||||||||||||||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000483767|retained_intron|5/5||ENST00000483767.5:n.1242A>T||1242|||||||-1||SNV|HGNC|HGNC:24517||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000496938|protein_coding_CDS_not_defined|||||||||||746|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|3_prime_UTR_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding|14/14||ENST00000616016.5:c.*420T>A||3464|||||||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||||||||||||||||||||||||||||||||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding|||||||||||420|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding|||||||||||420|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding|||||||||||420|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|3_prime_UTR_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding|14/14||ENST00000618323.5:c.*420T>A||3467|||||||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||||||||||||||||||||||||||||||||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding|||||||||||420|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding|||||||||||420|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000109|promoter||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:73,2:0.043:75:9,0:34,1:43,1:34,39,1,1 -chr1 944722 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=26%2C29|1%2C1;DP=59;ECNT=1;GERMQ=93;MBQ=33,34;MFRL=0,0;MMQ=59,60;MPOS=22;POPAF=7.3;TLOD=4.74;SRC=custom;GRP=custom;CSQ=C|missense_variant|MODERATE|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding|19/19||ENST00000327044.7:c.2222A>G|ENSP00000317992.6:p.Glu741Gly|2238|2222|741|E/G|gAg/gGg|||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C|||deleterious(0)|unknown(0)||||||||||||||||||||||||||||||||||||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding|||||||||||147|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||||||||||||||||||||||||||||||||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding|||||||||||148|1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000455979|protein_coding|||||||||||463|1|cds_start_NF|SNV|HGNC|HGNC:28706||||2|||ENSP00000412228||H7C3J6.55|UPI000155D479||1||||||||||||||||||||||||||||||||||||||||||||XALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVRRWGVRSGSPDHSWAESSGWVCDSPHQAISLQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000464948|retained_intron|||||||||||1830|1||SNV|HGNC|HGNC:28706||||2||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000466827|retained_intron|||||||||||1920|1||SNV|HGNC|HGNC:28706||||3||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000474461|retained_intron|||||||||||1728|1||SNV|HGNC|HGNC:28706||||5||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron|17/17||ENST00000477976.5:n.3684A>G||3684|||||||-1||SNV|HGNC|HGNC:24517||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000478729|protein_coding_CDS_not_defined|||||||||||2549|1||SNV|HGNC|HGNC:28706||||5||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000483767|retained_intron|5/5||ENST00000483767.5:n.1093A>G||1093|||||||-1||SNV|HGNC|HGNC:24517||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000496938|protein_coding_CDS_not_defined|||||||||||597|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding|||||||||||148|1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||||||||||||||||||||||||||||||||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding|||||||||||569|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding|||||||||||569|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding|||||||||||569|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding|||||||||||148|1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||||||||||||||||||||||||||||||||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding|||||||||||569|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding|||||||||||569|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000109|promoter||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:55,2:0.06:57:3,0:26,1:30,1:26,29,1,1 -chr1 944858 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=1;GERMQ=52;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=67;POPAF=7.3;TLOD=14.83;SRC=custom;GRP=custom;CSQ=G|intron_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||18/18|ENST00000327044.7:c.2144-58T>C|||||||rs3748592&COSV58986945||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||0.9209|0.9062|0.9193|0.9137|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9197|0.9667|0.9304|0.9465|0.9336|0.9216|0.9667|gnomADg_FIN||0&1|0&1||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||||||||||rs3748592&COSV58986945|283|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.9209|0.9062|0.9193|0.9137|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9197|0.9667|0.9304|0.9465|0.9336|0.9216|0.9667|gnomADg_FIN||0&1|0&1||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||||||||||rs3748592&COSV58986945|284|1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.9209|0.9062|0.9193|0.9137|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9197|0.9667|0.9304|0.9465|0.9336|0.9216|0.9667|gnomADg_FIN||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000455979|protein_coding||||||||||rs3748592&COSV58986945|599|1|cds_start_NF|SNV|HGNC|HGNC:28706||||2|||ENSP00000412228||H7C3J6.55|UPI000155D479||1||||||0.9209|0.9062|0.9193|0.9137|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9197|0.9667|0.9304|0.9465|0.9336|0.9216|0.9667|gnomADg_FIN||0&1|0&1||||||||XALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVRRWGVRSGSPDHSWAESSGWVCDSPHQAISLQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000464948|retained_intron||||||||||rs3748592&COSV58986945|1966|1||SNV|HGNC|HGNC:28706||||2||||||||1||||||0.9209|0.9062|0.9193|0.9137|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9197|0.9667|0.9304|0.9465|0.9336|0.9216|0.9667|gnomADg_FIN||0&1|0&1||||||||||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000466827|retained_intron||||||||||rs3748592&COSV58986945|2056|1||SNV|HGNC|HGNC:28706||||3||||||||1||||||0.9209|0.9062|0.9193|0.9137|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9197|0.9667|0.9304|0.9465|0.9336|0.9216|0.9667|gnomADg_FIN||0&1|0&1||||||||||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000474461|retained_intron||||||||||rs3748592&COSV58986945|1864|1||SNV|HGNC|HGNC:28706||||5||||||||1||||||0.9209|0.9062|0.9193|0.9137|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9197|0.9667|0.9304|0.9465|0.9336|0.9216|0.9667|gnomADg_FIN||0&1|0&1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron||16/16|ENST00000477976.5:n.3606-58T>C|||||||rs3748592&COSV58986945||-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.9209|0.9062|0.9193|0.9137|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9197|0.9667|0.9304|0.9465|0.9336|0.9216|0.9667|gnomADg_FIN||0&1|0&1||||||||||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000478729|protein_coding_CDS_not_defined||||||||||rs3748592&COSV58986945|2685|1||SNV|HGNC|HGNC:28706||||5||||||||1||||||0.9209|0.9062|0.9193|0.9137|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9197|0.9667|0.9304|0.9465|0.9336|0.9216|0.9667|gnomADg_FIN||0&1|0&1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000483767|retained_intron||4/4|ENST00000483767.5:n.1015-58T>C|||||||rs3748592&COSV58986945||-1||SNV|HGNC|HGNC:24517||||2||||||||||||||0.9209|0.9062|0.9193|0.9137|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9197|0.9667|0.9304|0.9465|0.9336|0.9216|0.9667|gnomADg_FIN||0&1|0&1||||||||||,G|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000496938|protein_coding_CDS_not_defined||||||||||rs3748592&COSV58986945|461|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.9209|0.9062|0.9193|0.9137|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9197|0.9667|0.9304|0.9465|0.9336|0.9216|0.9667|gnomADg_FIN||0&1|0&1||||||||||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||||||||||rs3748592&COSV58986945|284|1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.9209|0.9062|0.9193|0.9137|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9197|0.9667|0.9304|0.9465|0.9336|0.9216|0.9667|gnomADg_FIN||0&1|0&1||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||||||||||rs3748592&COSV58986945|705|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.9209|0.9062|0.9193|0.9137|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9197|0.9667|0.9304|0.9465|0.9336|0.9216|0.9667|gnomADg_FIN||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||||||||||rs3748592&COSV58986945|705|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.9209|0.9062|0.9193|0.9137|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9197|0.9667|0.9304|0.9465|0.9336|0.9216|0.9667|gnomADg_FIN||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||||||||||rs3748592&COSV58986945|705|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.9209|0.9062|0.9193|0.9137|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9197|0.9667|0.9304|0.9465|0.9336|0.9216|0.9667|gnomADg_FIN||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||||||||||rs3748592&COSV58986945|284|1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.9209|0.9062|0.9193|0.9137|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9197|0.9667|0.9304|0.9465|0.9336|0.9216|0.9667|gnomADg_FIN||0&1|0&1||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||||||||||rs3748592&COSV58986945|705|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.9209|0.9062|0.9193|0.9137|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9197|0.9667|0.9304|0.9465|0.9336|0.9216|0.9667|gnomADg_FIN||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||||||||||rs3748592&COSV58986945|705|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.9209|0.9062|0.9193|0.9137|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9197|0.9667|0.9304|0.9465|0.9336|0.9216|0.9667|gnomADg_FIN||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 945827 . A T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5%2C3|1%2C1;DP=10;ECNT=1;GERMQ=45;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=45;POPAF=7.3;TLOD=5.83;SRC=custom;GRP=custom;CSQ=T|intron_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||16/18|ENST00000327044.7:c.1918-174T>A|||||||||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||||||||||||||||||||||||||||||||||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,T|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding|||||||||||1252|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||||||||||||||||||||||||||||||||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding|||||||||||1253|1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000455979|protein_coding|||||||||||1568|1|cds_start_NF|SNV|HGNC|HGNC:28706||||2|||ENSP00000412228||H7C3J6.55|UPI000155D479||1||||||||||||||||||||||||||||||||||||||||||||XALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVRRWGVRSGSPDHSWAESSGWVCDSPHQAISLQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000464948|retained_intron|||||||||||2935|1||SNV|HGNC|HGNC:28706||||2||||||||1||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000466827|retained_intron|||||||||||3025|1||SNV|HGNC|HGNC:28706||||3||||||||1||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000474461|retained_intron|||||||||||2833|1||SNV|HGNC|HGNC:28706||||5||||||||1||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron||14/16|ENST00000477976.5:n.3365-174T>A|||||||||-1||SNV|HGNC|HGNC:24517||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000478729|protein_coding_CDS_not_defined|||||||||||3654|1||SNV|HGNC|HGNC:28706||||5||||||||1||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000483767|retained_intron||2/4|ENST00000483767.5:n.774-174T>A|||||||||-1||SNV|HGNC|HGNC:24517||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000496938|protein_coding_CDS_not_defined|||||||||||265|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding|||||||||||1253|1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||||||||||||||||||||||||||||||||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding|||||||||||1674|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding|||||||||||1674|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding|||||||||||1674|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding|||||||||||1253|1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||||||||||||||||||||||||||||||||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding|||||||||||1674|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding|||||||||||1674|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:8,2:0.25:10:0,0:5,1:5,1:5,3,1,1 -chr1 946247 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C2|1%2C1;DP=6;ECNT=1;GERMQ=39;MBQ=34,33;MFRL=0,0;MMQ=60,39;MPOS=45;POPAF=7.3;TLOD=6.15;SRC=custom;GRP=custom;CSQ=A|synonymous_variant|LOW|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding|16/19||ENST00000327044.7:c.1843C>T|ENSP00000317992.6:p.Leu615%3D|1859|1843|615|L|Ctg/Ttg|rs2272757&COSV58986455||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||0.4419|0.0643|0.438|0.624|0.6332|0.5706|0.5696|0.1314|0.4859|0.5436|0.6586|0.6262|0.6363|0.5668|0.5655|0.4817|0.145|0.5143|0.4817|0.5614|0.6582|0.6286|0.5669|0.638|0.511|0.5769|0.6586|gnomADe_EAS||0&1|0&1||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||||||||||rs2272757&COSV58986455|1672|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.4419|0.0643|0.438|0.624|0.6332|0.5706|0.5696|0.1314|0.4859|0.5436|0.6586|0.6262|0.6363|0.5668|0.5655|0.4817|0.145|0.5143|0.4817|0.5614|0.6582|0.6286|0.5669|0.638|0.511|0.5769|0.6586|gnomADe_EAS||0&1|0&1||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||||||||||rs2272757&COSV58986455|1673|1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.4419|0.0643|0.438|0.624|0.6332|0.5706|0.5696|0.1314|0.4859|0.5436|0.6586|0.6262|0.6363|0.5668|0.5655|0.4817|0.145|0.5143|0.4817|0.5614|0.6582|0.6286|0.5669|0.638|0.511|0.5769|0.6586|gnomADe_EAS||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000455979|protein_coding||||||||||rs2272757&COSV58986455|1988|1|cds_start_NF|SNV|HGNC|HGNC:28706||||2|||ENSP00000412228||H7C3J6.55|UPI000155D479||1||||||0.4419|0.0643|0.438|0.624|0.6332|0.5706|0.5696|0.1314|0.4859|0.5436|0.6586|0.6262|0.6363|0.5668|0.5655|0.4817|0.145|0.5143|0.4817|0.5614|0.6582|0.6286|0.5669|0.638|0.511|0.5769|0.6586|gnomADe_EAS||0&1|0&1||||||||XALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVRRWGVRSGSPDHSWAESSGWVCDSPHQAISLQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000464948|retained_intron||||||||||rs2272757&COSV58986455|3355|1||SNV|HGNC|HGNC:28706||||2||||||||1||||||0.4419|0.0643|0.438|0.624|0.6332|0.5706|0.5696|0.1314|0.4859|0.5436|0.6586|0.6262|0.6363|0.5668|0.5655|0.4817|0.145|0.5143|0.4817|0.5614|0.6582|0.6286|0.5669|0.638|0.511|0.5769|0.6586|gnomADe_EAS||0&1|0&1||||||||||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000466827|retained_intron||||||||||rs2272757&COSV58986455|3445|1||SNV|HGNC|HGNC:28706||||3||||||||1||||||0.4419|0.0643|0.438|0.624|0.6332|0.5706|0.5696|0.1314|0.4859|0.5436|0.6586|0.6262|0.6363|0.5668|0.5655|0.4817|0.145|0.5143|0.4817|0.5614|0.6582|0.6286|0.5669|0.638|0.511|0.5769|0.6586|gnomADe_EAS||0&1|0&1||||||||||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000474461|retained_intron||||||||||rs2272757&COSV58986455|3253|1||SNV|HGNC|HGNC:28706||||5||||||||1||||||0.4419|0.0643|0.438|0.624|0.6332|0.5706|0.5696|0.1314|0.4859|0.5436|0.6586|0.6262|0.6363|0.5668|0.5655|0.4817|0.145|0.5143|0.4817|0.5614|0.6582|0.6286|0.5669|0.638|0.511|0.5769|0.6586|gnomADe_EAS||0&1|0&1||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron|14/17||ENST00000477976.5:n.3290C>T||3290|||||rs2272757&COSV58986455||-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.4419|0.0643|0.438|0.624|0.6332|0.5706|0.5696|0.1314|0.4859|0.5436|0.6586|0.6262|0.6363|0.5668|0.5655|0.4817|0.145|0.5143|0.4817|0.5614|0.6582|0.6286|0.5669|0.638|0.511|0.5769|0.6586|gnomADe_EAS||0&1|0&1||||||||||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000478729|protein_coding_CDS_not_defined||||||||||rs2272757&COSV58986455|4074|1||SNV|HGNC|HGNC:28706||||5||||||||1||||||0.4419|0.0643|0.438|0.624|0.6332|0.5706|0.5696|0.1314|0.4859|0.5436|0.6586|0.6262|0.6363|0.5668|0.5655|0.4817|0.145|0.5143|0.4817|0.5614|0.6582|0.6286|0.5669|0.638|0.511|0.5769|0.6586|gnomADe_EAS||0&1|0&1||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000483767|retained_intron|2/5||ENST00000483767.5:n.699C>T||699|||||rs2272757&COSV58986455||-1||SNV|HGNC|HGNC:24517||||2||||||||||||||0.4419|0.0643|0.438|0.624|0.6332|0.5706|0.5696|0.1314|0.4859|0.5436|0.6586|0.6262|0.6363|0.5668|0.5655|0.4817|0.145|0.5143|0.4817|0.5614|0.6582|0.6286|0.5669|0.638|0.511|0.5769|0.6586|gnomADe_EAS||0&1|0&1||||||||||,A|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000496938|protein_coding_CDS_not_defined||||||||||rs2272757&COSV58986455|685|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.4419|0.0643|0.438|0.624|0.6332|0.5706|0.5696|0.1314|0.4859|0.5436|0.6586|0.6262|0.6363|0.5668|0.5655|0.4817|0.145|0.5143|0.4817|0.5614|0.6582|0.6286|0.5669|0.638|0.511|0.5769|0.6586|gnomADe_EAS||0&1|0&1||||||||||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||||||||||rs2272757&COSV58986455|1673|1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.4419|0.0643|0.438|0.624|0.6332|0.5706|0.5696|0.1314|0.4859|0.5436|0.6586|0.6262|0.6363|0.5668|0.5655|0.4817|0.145|0.5143|0.4817|0.5614|0.6582|0.6286|0.5669|0.638|0.511|0.5769|0.6586|gnomADe_EAS||0&1|0&1||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||||||||||rs2272757&COSV58986455|2094|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.4419|0.0643|0.438|0.624|0.6332|0.5706|0.5696|0.1314|0.4859|0.5436|0.6586|0.6262|0.6363|0.5668|0.5655|0.4817|0.145|0.5143|0.4817|0.5614|0.6582|0.6286|0.5669|0.638|0.511|0.5769|0.6586|gnomADe_EAS||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||||||||||rs2272757&COSV58986455|2094|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.4419|0.0643|0.438|0.624|0.6332|0.5706|0.5696|0.1314|0.4859|0.5436|0.6586|0.6262|0.6363|0.5668|0.5655|0.4817|0.145|0.5143|0.4817|0.5614|0.6582|0.6286|0.5669|0.638|0.511|0.5769|0.6586|gnomADe_EAS||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||||||||||rs2272757&COSV58986455|2094|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.4419|0.0643|0.438|0.624|0.6332|0.5706|0.5696|0.1314|0.4859|0.5436|0.6586|0.6262|0.6363|0.5668|0.5655|0.4817|0.145|0.5143|0.4817|0.5614|0.6582|0.6286|0.5669|0.638|0.511|0.5769|0.6586|gnomADe_EAS||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||||||||||rs2272757&COSV58986455|1673|1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.4419|0.0643|0.438|0.624|0.6332|0.5706|0.5696|0.1314|0.4859|0.5436|0.6586|0.6262|0.6363|0.5668|0.5655|0.4817|0.145|0.5143|0.4817|0.5614|0.6582|0.6286|0.5669|0.638|0.511|0.5769|0.6586|gnomADe_EAS||0&1|0&1||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||||||||||rs2272757&COSV58986455|2094|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.4419|0.0643|0.438|0.624|0.6332|0.5706|0.5696|0.1314|0.4859|0.5436|0.6586|0.6262|0.6363|0.5668|0.5655|0.4817|0.145|0.5143|0.4817|0.5614|0.6582|0.6286|0.5669|0.638|0.511|0.5769|0.6586|gnomADe_EAS||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||||||||||rs2272757&COSV58986455|2094|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.4419|0.0643|0.438|0.624|0.6332|0.5706|0.5696|0.1314|0.4859|0.5436|0.6586|0.6262|0.6363|0.5668|0.5655|0.4817|0.145|0.5143|0.4817|0.5614|0.6582|0.6286|0.5669|0.638|0.511|0.5769|0.6586|gnomADe_EAS||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,2:0.333:6:1,0:2,1:3,1:2,2,1,1 -chr1 946538 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C2|1%2C1;DP=6;ECNT=1;GERMQ=39;MBQ=33,34;MFRL=0,0;MMQ=60,31;MPOS=10;POPAF=7.3;TLOD=4.87;SRC=custom;GRP=custom;CSQ=A|missense_variant|MODERATE|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding|15/19||ENST00000327044.7:c.1667C>T|ENSP00000317992.6:p.Ser556Leu|1683|1667|556|S/L|tCg/tTg|rs35471880||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C|||deleterious(0.03)|benign(0.18)||||0.0294|0.0038|0.0259|0|0.0567|0.0685|0.04557|0.01029|0.02083|0.03647|0.0001089|0.03013|0.06356|0.04741|0.06653|0.04214|0.01153|0.08004|0.02931|0.02999|0|0.03077|0.07595|0.06692|0.03633|0.06862|0.08004|gnomADg_AMI|||||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||||||||||rs35471880|1963|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.0294|0.0038|0.0259|0|0.0567|0.0685|0.04557|0.01029|0.02083|0.03647|0.0001089|0.03013|0.06356|0.04741|0.06653|0.04214|0.01153|0.08004|0.02931|0.02999|0|0.03077|0.07595|0.06692|0.03633|0.06862|0.08004|gnomADg_AMI|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||||||||||rs35471880|1964|1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.0294|0.0038|0.0259|0|0.0567|0.0685|0.04557|0.01029|0.02083|0.03647|0.0001089|0.03013|0.06356|0.04741|0.06653|0.04214|0.01153|0.08004|0.02931|0.02999|0|0.03077|0.07595|0.06692|0.03633|0.06862|0.08004|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000455979|protein_coding||||||||||rs35471880|2279|1|cds_start_NF|SNV|HGNC|HGNC:28706||||2|||ENSP00000412228||H7C3J6.55|UPI000155D479||1||||||0.0294|0.0038|0.0259|0|0.0567|0.0685|0.04557|0.01029|0.02083|0.03647|0.0001089|0.03013|0.06356|0.04741|0.06653|0.04214|0.01153|0.08004|0.02931|0.02999|0|0.03077|0.07595|0.06692|0.03633|0.06862|0.08004|gnomADg_AMI|||||||||||XALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVRRWGVRSGSPDHSWAESSGWVCDSPHQAISLQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000464948|retained_intron||||||||||rs35471880|3646|1||SNV|HGNC|HGNC:28706||||2||||||||1||||||0.0294|0.0038|0.0259|0|0.0567|0.0685|0.04557|0.01029|0.02083|0.03647|0.0001089|0.03013|0.06356|0.04741|0.06653|0.04214|0.01153|0.08004|0.02931|0.02999|0|0.03077|0.07595|0.06692|0.03633|0.06862|0.08004|gnomADg_AMI|||||||||||||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000466827|retained_intron||||||||||rs35471880|3736|1||SNV|HGNC|HGNC:28706||||3||||||||1||||||0.0294|0.0038|0.0259|0|0.0567|0.0685|0.04557|0.01029|0.02083|0.03647|0.0001089|0.03013|0.06356|0.04741|0.06653|0.04214|0.01153|0.08004|0.02931|0.02999|0|0.03077|0.07595|0.06692|0.03633|0.06862|0.08004|gnomADg_AMI|||||||||||||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000474461|retained_intron||||||||||rs35471880|3544|1||SNV|HGNC|HGNC:28706||||5||||||||1||||||0.0294|0.0038|0.0259|0|0.0567|0.0685|0.04557|0.01029|0.02083|0.03647|0.0001089|0.03013|0.06356|0.04741|0.06653|0.04214|0.01153|0.08004|0.02931|0.02999|0|0.03077|0.07595|0.06692|0.03633|0.06862|0.08004|gnomADg_AMI|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron|13/17||ENST00000477976.5:n.3114C>T||3114|||||rs35471880||-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.0294|0.0038|0.0259|0|0.0567|0.0685|0.04557|0.01029|0.02083|0.03647|0.0001089|0.03013|0.06356|0.04741|0.06653|0.04214|0.01153|0.08004|0.02931|0.02999|0|0.03077|0.07595|0.06692|0.03633|0.06862|0.08004|gnomADg_AMI|||||||||||||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000478729|protein_coding_CDS_not_defined||||||||||rs35471880|4365|1||SNV|HGNC|HGNC:28706||||5||||||||1||||||0.0294|0.0038|0.0259|0|0.0567|0.0685|0.04557|0.01029|0.02083|0.03647|0.0001089|0.03013|0.06356|0.04741|0.06653|0.04214|0.01153|0.08004|0.02931|0.02999|0|0.03077|0.07595|0.06692|0.03633|0.06862|0.08004|gnomADg_AMI|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000483767|retained_intron|1/5||ENST00000483767.5:n.523C>T||523|||||rs35471880||-1||SNV|HGNC|HGNC:24517||||2||||||||||||||0.0294|0.0038|0.0259|0|0.0567|0.0685|0.04557|0.01029|0.02083|0.03647|0.0001089|0.03013|0.06356|0.04741|0.06653|0.04214|0.01153|0.08004|0.02931|0.02999|0|0.03077|0.07595|0.06692|0.03633|0.06862|0.08004|gnomADg_AMI|||||||||||||,A|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000496938|protein_coding_CDS_not_defined||||||||||rs35471880|976|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.0294|0.0038|0.0259|0|0.0567|0.0685|0.04557|0.01029|0.02083|0.03647|0.0001089|0.03013|0.06356|0.04741|0.06653|0.04214|0.01153|0.08004|0.02931|0.02999|0|0.03077|0.07595|0.06692|0.03633|0.06862|0.08004|gnomADg_AMI|||||||||||||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||||||||||rs35471880|1964|1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.0294|0.0038|0.0259|0|0.0567|0.0685|0.04557|0.01029|0.02083|0.03647|0.0001089|0.03013|0.06356|0.04741|0.06653|0.04214|0.01153|0.08004|0.02931|0.02999|0|0.03077|0.07595|0.06692|0.03633|0.06862|0.08004|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||||||||||rs35471880|2385|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.0294|0.0038|0.0259|0|0.0567|0.0685|0.04557|0.01029|0.02083|0.03647|0.0001089|0.03013|0.06356|0.04741|0.06653|0.04214|0.01153|0.08004|0.02931|0.02999|0|0.03077|0.07595|0.06692|0.03633|0.06862|0.08004|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||||||||||rs35471880|2385|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.0294|0.0038|0.0259|0|0.0567|0.0685|0.04557|0.01029|0.02083|0.03647|0.0001089|0.03013|0.06356|0.04741|0.06653|0.04214|0.01153|0.08004|0.02931|0.02999|0|0.03077|0.07595|0.06692|0.03633|0.06862|0.08004|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||||||||||rs35471880|2385|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.0294|0.0038|0.0259|0|0.0567|0.0685|0.04557|0.01029|0.02083|0.03647|0.0001089|0.03013|0.06356|0.04741|0.06653|0.04214|0.01153|0.08004|0.02931|0.02999|0|0.03077|0.07595|0.06692|0.03633|0.06862|0.08004|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||||||||||rs35471880|1964|1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.0294|0.0038|0.0259|0|0.0567|0.0685|0.04557|0.01029|0.02083|0.03647|0.0001089|0.03013|0.06356|0.04741|0.06653|0.04214|0.01153|0.08004|0.02931|0.02999|0|0.03077|0.07595|0.06692|0.03633|0.06862|0.08004|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||||||||||rs35471880|2385|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.0294|0.0038|0.0259|0|0.0567|0.0685|0.04557|0.01029|0.02083|0.03647|0.0001089|0.03013|0.06356|0.04741|0.06653|0.04214|0.01153|0.08004|0.02931|0.02999|0|0.03077|0.07595|0.06692|0.03633|0.06862|0.08004|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||||||||||rs35471880|2385|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.0294|0.0038|0.0259|0|0.0567|0.0685|0.04557|0.01029|0.02083|0.03647|0.0001089|0.03013|0.06356|0.04741|0.06653|0.04214|0.01153|0.08004|0.02931|0.02999|0|0.03077|0.07595|0.06692|0.03633|0.06862|0.08004|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,2:0.5:6:0,1:2,1:2,2:2,2,1,1 -chr1 946538 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C2|1%2C2;DP=5;ECNT=1;GERMQ=37;MBQ=33,33;MFRL=0,0;MMQ=31,60;MPOS=103;POPAF=7.3;TLOD=8.25;SRC=custom;GRP=custom;CSQ=A|missense_variant|MODERATE|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding|15/19||ENST00000327044.7:c.1667C>T|ENSP00000317992.6:p.Ser556Leu|1683|1667|556|S/L|tCg/tTg|rs35471880||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C|||deleterious(0.03)|benign(0.18)||||0.0294|0.0038|0.0259|0|0.0567|0.0685|0.04557|0.01029|0.02083|0.03647|0.0001089|0.03013|0.06356|0.04741|0.06653|0.04214|0.01153|0.08004|0.02931|0.02999|0|0.03077|0.07595|0.06692|0.03633|0.06862|0.08004|gnomADg_AMI|||||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||||||||||rs35471880|1963|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.0294|0.0038|0.0259|0|0.0567|0.0685|0.04557|0.01029|0.02083|0.03647|0.0001089|0.03013|0.06356|0.04741|0.06653|0.04214|0.01153|0.08004|0.02931|0.02999|0|0.03077|0.07595|0.06692|0.03633|0.06862|0.08004|gnomADg_AMI|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||||||||||rs35471880|1964|1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.0294|0.0038|0.0259|0|0.0567|0.0685|0.04557|0.01029|0.02083|0.03647|0.0001089|0.03013|0.06356|0.04741|0.06653|0.04214|0.01153|0.08004|0.02931|0.02999|0|0.03077|0.07595|0.06692|0.03633|0.06862|0.08004|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000455979|protein_coding||||||||||rs35471880|2279|1|cds_start_NF|SNV|HGNC|HGNC:28706||||2|||ENSP00000412228||H7C3J6.55|UPI000155D479||1||||||0.0294|0.0038|0.0259|0|0.0567|0.0685|0.04557|0.01029|0.02083|0.03647|0.0001089|0.03013|0.06356|0.04741|0.06653|0.04214|0.01153|0.08004|0.02931|0.02999|0|0.03077|0.07595|0.06692|0.03633|0.06862|0.08004|gnomADg_AMI|||||||||||XALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVRRWGVRSGSPDHSWAESSGWVCDSPHQAISLQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000464948|retained_intron||||||||||rs35471880|3646|1||SNV|HGNC|HGNC:28706||||2||||||||1||||||0.0294|0.0038|0.0259|0|0.0567|0.0685|0.04557|0.01029|0.02083|0.03647|0.0001089|0.03013|0.06356|0.04741|0.06653|0.04214|0.01153|0.08004|0.02931|0.02999|0|0.03077|0.07595|0.06692|0.03633|0.06862|0.08004|gnomADg_AMI|||||||||||||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000466827|retained_intron||||||||||rs35471880|3736|1||SNV|HGNC|HGNC:28706||||3||||||||1||||||0.0294|0.0038|0.0259|0|0.0567|0.0685|0.04557|0.01029|0.02083|0.03647|0.0001089|0.03013|0.06356|0.04741|0.06653|0.04214|0.01153|0.08004|0.02931|0.02999|0|0.03077|0.07595|0.06692|0.03633|0.06862|0.08004|gnomADg_AMI|||||||||||||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000474461|retained_intron||||||||||rs35471880|3544|1||SNV|HGNC|HGNC:28706||||5||||||||1||||||0.0294|0.0038|0.0259|0|0.0567|0.0685|0.04557|0.01029|0.02083|0.03647|0.0001089|0.03013|0.06356|0.04741|0.06653|0.04214|0.01153|0.08004|0.02931|0.02999|0|0.03077|0.07595|0.06692|0.03633|0.06862|0.08004|gnomADg_AMI|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron|13/17||ENST00000477976.5:n.3114C>T||3114|||||rs35471880||-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.0294|0.0038|0.0259|0|0.0567|0.0685|0.04557|0.01029|0.02083|0.03647|0.0001089|0.03013|0.06356|0.04741|0.06653|0.04214|0.01153|0.08004|0.02931|0.02999|0|0.03077|0.07595|0.06692|0.03633|0.06862|0.08004|gnomADg_AMI|||||||||||||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000478729|protein_coding_CDS_not_defined||||||||||rs35471880|4365|1||SNV|HGNC|HGNC:28706||||5||||||||1||||||0.0294|0.0038|0.0259|0|0.0567|0.0685|0.04557|0.01029|0.02083|0.03647|0.0001089|0.03013|0.06356|0.04741|0.06653|0.04214|0.01153|0.08004|0.02931|0.02999|0|0.03077|0.07595|0.06692|0.03633|0.06862|0.08004|gnomADg_AMI|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000483767|retained_intron|1/5||ENST00000483767.5:n.523C>T||523|||||rs35471880||-1||SNV|HGNC|HGNC:24517||||2||||||||||||||0.0294|0.0038|0.0259|0|0.0567|0.0685|0.04557|0.01029|0.02083|0.03647|0.0001089|0.03013|0.06356|0.04741|0.06653|0.04214|0.01153|0.08004|0.02931|0.02999|0|0.03077|0.07595|0.06692|0.03633|0.06862|0.08004|gnomADg_AMI|||||||||||||,A|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000496938|protein_coding_CDS_not_defined||||||||||rs35471880|976|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.0294|0.0038|0.0259|0|0.0567|0.0685|0.04557|0.01029|0.02083|0.03647|0.0001089|0.03013|0.06356|0.04741|0.06653|0.04214|0.01153|0.08004|0.02931|0.02999|0|0.03077|0.07595|0.06692|0.03633|0.06862|0.08004|gnomADg_AMI|||||||||||||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||||||||||rs35471880|1964|1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.0294|0.0038|0.0259|0|0.0567|0.0685|0.04557|0.01029|0.02083|0.03647|0.0001089|0.03013|0.06356|0.04741|0.06653|0.04214|0.01153|0.08004|0.02931|0.02999|0|0.03077|0.07595|0.06692|0.03633|0.06862|0.08004|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||||||||||rs35471880|2385|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.0294|0.0038|0.0259|0|0.0567|0.0685|0.04557|0.01029|0.02083|0.03647|0.0001089|0.03013|0.06356|0.04741|0.06653|0.04214|0.01153|0.08004|0.02931|0.02999|0|0.03077|0.07595|0.06692|0.03633|0.06862|0.08004|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||||||||||rs35471880|2385|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.0294|0.0038|0.0259|0|0.0567|0.0685|0.04557|0.01029|0.02083|0.03647|0.0001089|0.03013|0.06356|0.04741|0.06653|0.04214|0.01153|0.08004|0.02931|0.02999|0|0.03077|0.07595|0.06692|0.03633|0.06862|0.08004|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||||||||||rs35471880|2385|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.0294|0.0038|0.0259|0|0.0567|0.0685|0.04557|0.01029|0.02083|0.03647|0.0001089|0.03013|0.06356|0.04741|0.06653|0.04214|0.01153|0.08004|0.02931|0.02999|0|0.03077|0.07595|0.06692|0.03633|0.06862|0.08004|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||||||||||rs35471880|1964|1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.0294|0.0038|0.0259|0|0.0567|0.0685|0.04557|0.01029|0.02083|0.03647|0.0001089|0.03013|0.06356|0.04741|0.06653|0.04214|0.01153|0.08004|0.02931|0.02999|0|0.03077|0.07595|0.06692|0.03633|0.06862|0.08004|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||||||||||rs35471880|2385|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.0294|0.0038|0.0259|0|0.0567|0.0685|0.04557|0.01029|0.02083|0.03647|0.0001089|0.03013|0.06356|0.04741|0.06653|0.04214|0.01153|0.08004|0.02931|0.02999|0|0.03077|0.07595|0.06692|0.03633|0.06862|0.08004|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||||||||||rs35471880|2385|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.0294|0.0038|0.0259|0|0.0567|0.0685|0.04557|0.01029|0.02083|0.03647|0.0001089|0.03013|0.06356|0.04741|0.06653|0.04214|0.01153|0.08004|0.02931|0.02999|0|0.03077|0.07595|0.06692|0.03633|0.06862|0.08004|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,3:0.5:5:2,1:0,1:2,2:0,2,1,2 -chr1 947371 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C1|1%2C1;DP=6;ECNT=2;GERMQ=39;MBQ=32,34;MFRL=0,0;MMQ=60,60;MPOS=37;POPAF=7.3;TLOD=6.35;SRC=custom;GRP=custom;CSQ=C|intron_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||14/18|ENST00000327044.7:c.1659+760A>G|||||||rs1642142538||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||||||||||||||||||||||||||||||||||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||||||||||rs1642142538|2796|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||||||||||||||||||||||||||||||||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||||||||||rs1642142538|2797|1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000455979|protein_coding||||||||||rs1642142538|3112|1|cds_start_NF|SNV|HGNC|HGNC:28706||||2|||ENSP00000412228||H7C3J6.55|UPI000155D479||1||||||||||||||||||||||||||||||||||||||||||||XALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVRRWGVRSGSPDHSWAESSGWVCDSPHQAISLQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000464948|retained_intron||||||||||rs1642142538|4479|1||SNV|HGNC|HGNC:28706||||2||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000466827|retained_intron||||||||||rs1642142538|4569|1||SNV|HGNC|HGNC:28706||||3||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000474461|retained_intron||||||||||rs1642142538|4377|1||SNV|HGNC|HGNC:28706||||5||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron||12/16|ENST00000477976.5:n.3106+760A>G|||||||rs1642142538||-1||SNV|HGNC|HGNC:24517||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000483767|retained_intron||||||||||rs1642142538|311|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000496938|protein_coding_CDS_not_defined||||||||||rs1642142538|1809|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||||||||||rs1642142538|2797|1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||||||||||||||||||||||||||||||||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||||||||||rs1642142538|3218|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||||||||||rs1642142538|3218|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||||||||||rs1642142538|3218|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||||||||||rs1642142538|2797|1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||||||||||||||||||||||||||||||||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||||||||||rs1642142538|3218|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||||||||||rs1642142538|3218|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,2:0.333:6:0,0:3,1:3,1:3,1,1,1 -chr1 947423 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|5%2C3;DP=9;ECNT=2;GERMQ=63;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=97;POPAF=7.3;TLOD=29.94;SRC=custom;GRP=custom;CSQ=G|intron_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||14/18|ENST00000327044.7:c.1659+708T>C|||||||rs2340582||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||0.9221|0.9062|0.9193|0.9196|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9239|0.9648|0.9304|0.9464|0.934|0.9215|0.9648|gnomADg_FIN|||||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||||||||||rs2340582|2848|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.9221|0.9062|0.9193|0.9196|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9239|0.9648|0.9304|0.9464|0.934|0.9215|0.9648|gnomADg_FIN|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||||||||||rs2340582|2849|1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.9221|0.9062|0.9193|0.9196|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9239|0.9648|0.9304|0.9464|0.934|0.9215|0.9648|gnomADg_FIN|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000455979|protein_coding||||||||||rs2340582|3164|1|cds_start_NF|SNV|HGNC|HGNC:28706||||2|||ENSP00000412228||H7C3J6.55|UPI000155D479||1||||||0.9221|0.9062|0.9193|0.9196|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9239|0.9648|0.9304|0.9464|0.934|0.9215|0.9648|gnomADg_FIN|||||||||||XALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVRRWGVRSGSPDHSWAESSGWVCDSPHQAISLQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000464948|retained_intron||||||||||rs2340582|4531|1||SNV|HGNC|HGNC:28706||||2||||||||1||||||0.9221|0.9062|0.9193|0.9196|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9239|0.9648|0.9304|0.9464|0.934|0.9215|0.9648|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000466827|retained_intron||||||||||rs2340582|4621|1||SNV|HGNC|HGNC:28706||||3||||||||1||||||0.9221|0.9062|0.9193|0.9196|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9239|0.9648|0.9304|0.9464|0.934|0.9215|0.9648|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000474461|retained_intron||||||||||rs2340582|4429|1||SNV|HGNC|HGNC:28706||||5||||||||1||||||0.9221|0.9062|0.9193|0.9196|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9239|0.9648|0.9304|0.9464|0.934|0.9215|0.9648|gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron||12/16|ENST00000477976.5:n.3106+708T>C|||||||rs2340582||-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.9221|0.9062|0.9193|0.9196|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9239|0.9648|0.9304|0.9464|0.934|0.9215|0.9648|gnomADg_FIN|||||||||||||,G|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000483767|retained_intron||||||||||rs2340582|363|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||0.9221|0.9062|0.9193|0.9196|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9239|0.9648|0.9304|0.9464|0.934|0.9215|0.9648|gnomADg_FIN|||||||||||||,G|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000496938|protein_coding_CDS_not_defined||||||||||rs2340582|1861|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.9221|0.9062|0.9193|0.9196|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9239|0.9648|0.9304|0.9464|0.934|0.9215|0.9648|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||||||||||rs2340582|2849|1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.9221|0.9062|0.9193|0.9196|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9239|0.9648|0.9304|0.9464|0.934|0.9215|0.9648|gnomADg_FIN|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||||||||||rs2340582|3270|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.9221|0.9062|0.9193|0.9196|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9239|0.9648|0.9304|0.9464|0.934|0.9215|0.9648|gnomADg_FIN|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||||||||||rs2340582|3270|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.9221|0.9062|0.9193|0.9196|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9239|0.9648|0.9304|0.9464|0.934|0.9215|0.9648|gnomADg_FIN|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||||||||||rs2340582|3270|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.9221|0.9062|0.9193|0.9196|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9239|0.9648|0.9304|0.9464|0.934|0.9215|0.9648|gnomADg_FIN|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||||||||||rs2340582|2849|1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.9221|0.9062|0.9193|0.9196|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9239|0.9648|0.9304|0.9464|0.934|0.9215|0.9648|gnomADg_FIN|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||||||||||rs2340582|3270|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.9221|0.9062|0.9193|0.9196|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9239|0.9648|0.9304|0.9464|0.934|0.9215|0.9648|gnomADg_FIN|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||||||||||rs2340582|3270|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.9221|0.9062|0.9193|0.9196|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9239|0.9648|0.9304|0.9464|0.934|0.9215|0.9648|gnomADg_FIN|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.857:8:0,0:0,5:0,5:0,0,5,3 -chr1 947423 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=2;GERMQ=52;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=87;POPAF=7.3;TLOD=15.03;SRC=custom;GRP=custom;CSQ=G|intron_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||14/18|ENST00000327044.7:c.1659+708T>C|||||||rs2340582||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||0.9221|0.9062|0.9193|0.9196|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9239|0.9648|0.9304|0.9464|0.934|0.9215|0.9648|gnomADg_FIN|||||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||||||||||rs2340582|2848|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.9221|0.9062|0.9193|0.9196|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9239|0.9648|0.9304|0.9464|0.934|0.9215|0.9648|gnomADg_FIN|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||||||||||rs2340582|2849|1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.9221|0.9062|0.9193|0.9196|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9239|0.9648|0.9304|0.9464|0.934|0.9215|0.9648|gnomADg_FIN|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000455979|protein_coding||||||||||rs2340582|3164|1|cds_start_NF|SNV|HGNC|HGNC:28706||||2|||ENSP00000412228||H7C3J6.55|UPI000155D479||1||||||0.9221|0.9062|0.9193|0.9196|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9239|0.9648|0.9304|0.9464|0.934|0.9215|0.9648|gnomADg_FIN|||||||||||XALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVRRWGVRSGSPDHSWAESSGWVCDSPHQAISLQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000464948|retained_intron||||||||||rs2340582|4531|1||SNV|HGNC|HGNC:28706||||2||||||||1||||||0.9221|0.9062|0.9193|0.9196|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9239|0.9648|0.9304|0.9464|0.934|0.9215|0.9648|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000466827|retained_intron||||||||||rs2340582|4621|1||SNV|HGNC|HGNC:28706||||3||||||||1||||||0.9221|0.9062|0.9193|0.9196|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9239|0.9648|0.9304|0.9464|0.934|0.9215|0.9648|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000474461|retained_intron||||||||||rs2340582|4429|1||SNV|HGNC|HGNC:28706||||5||||||||1||||||0.9221|0.9062|0.9193|0.9196|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9239|0.9648|0.9304|0.9464|0.934|0.9215|0.9648|gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron||12/16|ENST00000477976.5:n.3106+708T>C|||||||rs2340582||-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.9221|0.9062|0.9193|0.9196|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9239|0.9648|0.9304|0.9464|0.934|0.9215|0.9648|gnomADg_FIN|||||||||||||,G|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000483767|retained_intron||||||||||rs2340582|363|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||0.9221|0.9062|0.9193|0.9196|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9239|0.9648|0.9304|0.9464|0.934|0.9215|0.9648|gnomADg_FIN|||||||||||||,G|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000496938|protein_coding_CDS_not_defined||||||||||rs2340582|1861|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.9221|0.9062|0.9193|0.9196|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9239|0.9648|0.9304|0.9464|0.934|0.9215|0.9648|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||||||||||rs2340582|2849|1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.9221|0.9062|0.9193|0.9196|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9239|0.9648|0.9304|0.9464|0.934|0.9215|0.9648|gnomADg_FIN|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||||||||||rs2340582|3270|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.9221|0.9062|0.9193|0.9196|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9239|0.9648|0.9304|0.9464|0.934|0.9215|0.9648|gnomADg_FIN|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||||||||||rs2340582|3270|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.9221|0.9062|0.9193|0.9196|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9239|0.9648|0.9304|0.9464|0.934|0.9215|0.9648|gnomADg_FIN|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||||||||||rs2340582|3270|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.9221|0.9062|0.9193|0.9196|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9239|0.9648|0.9304|0.9464|0.934|0.9215|0.9648|gnomADg_FIN|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||||||||||rs2340582|2849|1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.9221|0.9062|0.9193|0.9196|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9239|0.9648|0.9304|0.9464|0.934|0.9215|0.9648|gnomADg_FIN|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||||||||||rs2340582|3270|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.9221|0.9062|0.9193|0.9196|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9239|0.9648|0.9304|0.9464|0.934|0.9215|0.9648|gnomADg_FIN|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||||||||||rs2340582|3270|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.9221|0.9062|0.9193|0.9196|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9239|0.9648|0.9304|0.9464|0.934|0.9215|0.9648|gnomADg_FIN|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 947437 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C1;DP=4;ECNT=2;GERMQ=37;MBQ=24,32;MFRL=0,0;MMQ=60,60;MPOS=109;POPAF=7.3;TLOD=6.3;SRC=custom;GRP=custom;CSQ=A|intron_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||14/18|ENST00000327044.7:c.1659+694C>T|||||||||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||||||||||||||||||||||||||||||||||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding|||||||||||2862|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||||||||||||||||||||||||||||||||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding|||||||||||2863|1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000455979|protein_coding|||||||||||3178|1|cds_start_NF|SNV|HGNC|HGNC:28706||||2|||ENSP00000412228||H7C3J6.55|UPI000155D479||1||||||||||||||||||||||||||||||||||||||||||||XALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVRRWGVRSGSPDHSWAESSGWVCDSPHQAISLQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000464948|retained_intron|||||||||||4545|1||SNV|HGNC|HGNC:28706||||2||||||||1||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000466827|retained_intron|||||||||||4635|1||SNV|HGNC|HGNC:28706||||3||||||||1||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000474461|retained_intron|||||||||||4443|1||SNV|HGNC|HGNC:28706||||5||||||||1||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron||12/16|ENST00000477976.5:n.3106+694C>T|||||||||-1||SNV|HGNC|HGNC:24517||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000483767|retained_intron|||||||||||377|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000496938|protein_coding_CDS_not_defined|||||||||||1875|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding|||||||||||2863|1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||||||||||||||||||||||||||||||||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding|||||||||||3284|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding|||||||||||3284|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding|||||||||||3284|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding|||||||||||2863|1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||||||||||||||||||||||||||||||||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding|||||||||||3284|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding|||||||||||3284|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.414:4:0,0:0,1:2,1:1,1,1,1 -chr1 948245 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=59;POPAF=7.3;TLOD=3.48;SRC=custom;GRP=custom;CSQ=G|splice_polypyrimidine_tract_variant&intron_variant|LOW|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||13/18|ENST00000327044.7:c.1558-13T>C|||||||rs4970378||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||1.0000|1|1|1|1|1|1|0.9996|1|1|1|1|1|1|1|0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||||||||||rs4970378|3670|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||1.0000|1|1|1|1|1|1|0.9996|1|1|1|1|1|1|1|0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||||||||||rs4970378|3671|1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||1.0000|1|1|1|1|1|1|0.9996|1|1|1|1|1|1|1|0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000455979|protein_coding||||||||||rs4970378|3986|1|cds_start_NF|SNV|HGNC|HGNC:28706||||2|||ENSP00000412228||H7C3J6.55|UPI000155D479||1||||||1.0000|1|1|1|1|1|1|0.9996|1|1|1|1|1|1|1|0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||XALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVRRWGVRSGSPDHSWAESSGWVCDSPHQAISLQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|splice_polypyrimidine_tract_variant&intron_variant&non_coding_transcript_variant|LOW|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron||11/16|ENST00000477976.5:n.3005-13T>C|||||||rs4970378||-1||SNV|HGNC|HGNC:24517||||5||||||||||||||1.0000|1|1|1|1|1|1|0.9996|1|1|1|1|1|1|1|0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000483767|retained_intron||||||||||rs4970378|1185|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||1.0000|1|1|1|1|1|1|0.9996|1|1|1|1|1|1|1|0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000496938|protein_coding_CDS_not_defined||||||||||rs4970378|2683|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||1.0000|1|1|1|1|1|1|0.9996|1|1|1|1|1|1|1|0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||||||||||rs4970378|3671|1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||1.0000|1|1|1|1|1|1|0.9996|1|1|1|1|1|1|1|0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||||||||||rs4970378|4092|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||1.0000|1|1|1|1|1|1|0.9996|1|1|1|1|1|1|1|0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||||||||||rs4970378|4092|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||1.0000|1|1|1|1|1|1|0.9996|1|1|1|1|1|1|1|0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||||||||||rs4970378|4092|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||1.0000|1|1|1|1|1|1|0.9996|1|1|1|1|1|1|1|0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||||||||||rs4970378|3671|1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||1.0000|1|1|1|1|1|1|0.9996|1|1|1|1|1|1|1|0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||||||||||rs4970378|4092|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||1.0000|1|1|1|1|1|1|0.9996|1|1|1|1|1|1|1|0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||||||||||rs4970378|4092|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||1.0000|1|1|1|1|1|1|0.9996|1|1|1|1|1|1|1|0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 948245 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=108;POPAF=7.3;TLOD=3.58;SRC=custom;GRP=custom;CSQ=G|splice_polypyrimidine_tract_variant&intron_variant|LOW|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||13/18|ENST00000327044.7:c.1558-13T>C|||||||rs4970378||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||1.0000|1|1|1|1|1|1|0.9996|1|1|1|1|1|1|1|0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||||||||||rs4970378|3670|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||1.0000|1|1|1|1|1|1|0.9996|1|1|1|1|1|1|1|0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||||||||||rs4970378|3671|1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||1.0000|1|1|1|1|1|1|0.9996|1|1|1|1|1|1|1|0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000455979|protein_coding||||||||||rs4970378|3986|1|cds_start_NF|SNV|HGNC|HGNC:28706||||2|||ENSP00000412228||H7C3J6.55|UPI000155D479||1||||||1.0000|1|1|1|1|1|1|0.9996|1|1|1|1|1|1|1|0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||XALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVRRWGVRSGSPDHSWAESSGWVCDSPHQAISLQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|splice_polypyrimidine_tract_variant&intron_variant&non_coding_transcript_variant|LOW|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron||11/16|ENST00000477976.5:n.3005-13T>C|||||||rs4970378||-1||SNV|HGNC|HGNC:24517||||5||||||||||||||1.0000|1|1|1|1|1|1|0.9996|1|1|1|1|1|1|1|0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000483767|retained_intron||||||||||rs4970378|1185|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||1.0000|1|1|1|1|1|1|0.9996|1|1|1|1|1|1|1|0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000496938|protein_coding_CDS_not_defined||||||||||rs4970378|2683|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||1.0000|1|1|1|1|1|1|0.9996|1|1|1|1|1|1|1|0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||||||||||rs4970378|3671|1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||1.0000|1|1|1|1|1|1|0.9996|1|1|1|1|1|1|1|0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||||||||||rs4970378|4092|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||1.0000|1|1|1|1|1|1|0.9996|1|1|1|1|1|1|1|0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||||||||||rs4970378|4092|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||1.0000|1|1|1|1|1|1|0.9996|1|1|1|1|1|1|1|0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||||||||||rs4970378|4092|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||1.0000|1|1|1|1|1|1|0.9996|1|1|1|1|1|1|1|0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||||||||||rs4970378|3671|1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||1.0000|1|1|1|1|1|1|0.9996|1|1|1|1|1|1|1|0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||||||||||rs4970378|4092|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||1.0000|1|1|1|1|1|1|0.9996|1|1|1|1|1|1|1|0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||||||||||rs4970378|4092|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||1.0000|1|1|1|1|1|1|0.9996|1|1|1|1|1|1|1|0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,0:0,1:0,0,0,1 -chr1 948711 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C2;DP=5;ECNT=1;GERMQ=55;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=109;POPAF=7.3;TLOD=18.88;SRC=custom;GRP=custom;CSQ=G|intron_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||12/18|ENST00000327044.7:c.1444-108G>C|||||||rs7522415&COSV58986347||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C|||||||||||||||||||||||0.03311|0.1091|0|0.02095|0.001472|0.001596|0.001084|0.003226|0.002415|0.02854|0.002785|0.1091|gnomADg_AFR||0&1|0&1||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||||||||||rs7522415&COSV58986347|4136|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1|||||||||||||||||||||0.03311|0.1091|0|0.02095|0.001472|0.001596|0.001084|0.003226|0.002415|0.02854|0.002785|0.1091|gnomADg_AFR||0&1|0&1||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||||||||||rs7522415&COSV58986347|4137|1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1|||||||||||||||||||||0.03311|0.1091|0|0.02095|0.001472|0.001596|0.001084|0.003226|0.002415|0.02854|0.002785|0.1091|gnomADg_AFR||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000455979|protein_coding||||||||||rs7522415&COSV58986347|4452|1|cds_start_NF|SNV|HGNC|HGNC:28706||||2|||ENSP00000412228||H7C3J6.55|UPI000155D479||1|||||||||||||||||||||0.03311|0.1091|0|0.02095|0.001472|0.001596|0.001084|0.003226|0.002415|0.02854|0.002785|0.1091|gnomADg_AFR||0&1|0&1||||||||XALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVRRWGVRSGSPDHSWAESSGWVCDSPHQAISLQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant&non_coding_transcript_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron||10/16|ENST00000477976.5:n.2891-108G>C|||||||rs7522415&COSV58986347||-1||SNV|HGNC|HGNC:24517||||5|||||||||||||||||||||||||||||0.03311|0.1091|0|0.02095|0.001472|0.001596|0.001084|0.003226|0.002415|0.02854|0.002785|0.1091|gnomADg_AFR||0&1|0&1||||||||||,G|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000483767|retained_intron||||||||||rs7522415&COSV58986347|1651|-1||SNV|HGNC|HGNC:24517||||2|||||||||||||||||||||||||||||0.03311|0.1091|0|0.02095|0.001472|0.001596|0.001084|0.003226|0.002415|0.02854|0.002785|0.1091|gnomADg_AFR||0&1|0&1||||||||||,G|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000496938|protein_coding_CDS_not_defined||||||||||rs7522415&COSV58986347|3149|-1||SNV|HGNC|HGNC:24517||||5|||||||||||||||||||||||||||||0.03311|0.1091|0|0.02095|0.001472|0.001596|0.001084|0.003226|0.002415|0.02854|0.002785|0.1091|gnomADg_AFR||0&1|0&1||||||||||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||||||||||rs7522415&COSV58986347|4137|1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1|||||||||||||||||||||0.03311|0.1091|0|0.02095|0.001472|0.001596|0.001084|0.003226|0.002415|0.02854|0.002785|0.1091|gnomADg_AFR||0&1|0&1||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||||||||||rs7522415&COSV58986347|4558|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1|||||||||||||||||||||0.03311|0.1091|0|0.02095|0.001472|0.001596|0.001084|0.003226|0.002415|0.02854|0.002785|0.1091|gnomADg_AFR||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||||||||||rs7522415&COSV58986347|4558|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1|||||||||||||||||||||0.03311|0.1091|0|0.02095|0.001472|0.001596|0.001084|0.003226|0.002415|0.02854|0.002785|0.1091|gnomADg_AFR||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||||||||||rs7522415&COSV58986347|4558|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1|||||||||||||||||||||0.03311|0.1091|0|0.02095|0.001472|0.001596|0.001084|0.003226|0.002415|0.02854|0.002785|0.1091|gnomADg_AFR||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||||||||||rs7522415&COSV58986347|4137|1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1|||||||||||||||||||||0.03311|0.1091|0|0.02095|0.001472|0.001596|0.001084|0.003226|0.002415|0.02854|0.002785|0.1091|gnomADg_AFR||0&1|0&1||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||||||||||rs7522415&COSV58986347|4558|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1|||||||||||||||||||||0.03311|0.1091|0|0.02095|0.001472|0.001596|0.001084|0.003226|0.002415|0.02854|0.002785|0.1091|gnomADg_AFR||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||||||||||rs7522415&COSV58986347|4558|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1|||||||||||||||||||||0.03311|0.1091|0|0.02095|0.001472|0.001596|0.001084|0.003226|0.002415|0.02854|0.002785|0.1091|gnomADg_AFR||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.8:5:0,0:0,3:0,3:0,0,3,2 -chr1 948711 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=89;POPAF=7.3;TLOD=7.12;SRC=custom;GRP=custom;CSQ=G|intron_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||12/18|ENST00000327044.7:c.1444-108G>C|||||||rs7522415&COSV58986347||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C|||||||||||||||||||||||0.03311|0.1091|0|0.02095|0.001472|0.001596|0.001084|0.003226|0.002415|0.02854|0.002785|0.1091|gnomADg_AFR||0&1|0&1||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||||||||||rs7522415&COSV58986347|4136|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1|||||||||||||||||||||0.03311|0.1091|0|0.02095|0.001472|0.001596|0.001084|0.003226|0.002415|0.02854|0.002785|0.1091|gnomADg_AFR||0&1|0&1||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||||||||||rs7522415&COSV58986347|4137|1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1|||||||||||||||||||||0.03311|0.1091|0|0.02095|0.001472|0.001596|0.001084|0.003226|0.002415|0.02854|0.002785|0.1091|gnomADg_AFR||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000455979|protein_coding||||||||||rs7522415&COSV58986347|4452|1|cds_start_NF|SNV|HGNC|HGNC:28706||||2|||ENSP00000412228||H7C3J6.55|UPI000155D479||1|||||||||||||||||||||0.03311|0.1091|0|0.02095|0.001472|0.001596|0.001084|0.003226|0.002415|0.02854|0.002785|0.1091|gnomADg_AFR||0&1|0&1||||||||XALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVRRWGVRSGSPDHSWAESSGWVCDSPHQAISLQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant&non_coding_transcript_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron||10/16|ENST00000477976.5:n.2891-108G>C|||||||rs7522415&COSV58986347||-1||SNV|HGNC|HGNC:24517||||5|||||||||||||||||||||||||||||0.03311|0.1091|0|0.02095|0.001472|0.001596|0.001084|0.003226|0.002415|0.02854|0.002785|0.1091|gnomADg_AFR||0&1|0&1||||||||||,G|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000483767|retained_intron||||||||||rs7522415&COSV58986347|1651|-1||SNV|HGNC|HGNC:24517||||2|||||||||||||||||||||||||||||0.03311|0.1091|0|0.02095|0.001472|0.001596|0.001084|0.003226|0.002415|0.02854|0.002785|0.1091|gnomADg_AFR||0&1|0&1||||||||||,G|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000496938|protein_coding_CDS_not_defined||||||||||rs7522415&COSV58986347|3149|-1||SNV|HGNC|HGNC:24517||||5|||||||||||||||||||||||||||||0.03311|0.1091|0|0.02095|0.001472|0.001596|0.001084|0.003226|0.002415|0.02854|0.002785|0.1091|gnomADg_AFR||0&1|0&1||||||||||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||||||||||rs7522415&COSV58986347|4137|1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1|||||||||||||||||||||0.03311|0.1091|0|0.02095|0.001472|0.001596|0.001084|0.003226|0.002415|0.02854|0.002785|0.1091|gnomADg_AFR||0&1|0&1||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||||||||||rs7522415&COSV58986347|4558|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1|||||||||||||||||||||0.03311|0.1091|0|0.02095|0.001472|0.001596|0.001084|0.003226|0.002415|0.02854|0.002785|0.1091|gnomADg_AFR||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||||||||||rs7522415&COSV58986347|4558|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1|||||||||||||||||||||0.03311|0.1091|0|0.02095|0.001472|0.001596|0.001084|0.003226|0.002415|0.02854|0.002785|0.1091|gnomADg_AFR||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||||||||||rs7522415&COSV58986347|4558|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1|||||||||||||||||||||0.03311|0.1091|0|0.02095|0.001472|0.001596|0.001084|0.003226|0.002415|0.02854|0.002785|0.1091|gnomADg_AFR||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||||||||||rs7522415&COSV58986347|4137|1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1|||||||||||||||||||||0.03311|0.1091|0|0.02095|0.001472|0.001596|0.001084|0.003226|0.002415|0.02854|0.002785|0.1091|gnomADg_AFR||0&1|0&1||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||||||||||rs7522415&COSV58986347|4558|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1|||||||||||||||||||||0.03311|0.1091|0|0.02095|0.001472|0.001596|0.001084|0.003226|0.002415|0.02854|0.002785|0.1091|gnomADg_AFR||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||||||||||rs7522415&COSV58986347|4558|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1|||||||||||||||||||||0.03311|0.1091|0|0.02095|0.001472|0.001596|0.001084|0.003226|0.002415|0.02854|0.002785|0.1091|gnomADg_AFR||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 949435 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=1;GERMQ=52;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=46;POPAF=7.3;TLOD=14.43;SRC=custom;GRP=custom;CSQ=G|intron_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||12/18|ENST00000327044.7:c.1444-832T>C|||||||rs4246503||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||0.9197|0.8971|0.9193|0.9196|0.9523|0.9172||||||||||0.9313|0.8992|0.9638|0.9324|0.9274|0.9235|0.9647|0.9304|0.9464|0.9312|0.9214|0.9647|gnomADg_FIN|||||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||||||||||rs4246503|4860|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.9197|0.8971|0.9193|0.9196|0.9523|0.9172||||||||||0.9313|0.8992|0.9638|0.9324|0.9274|0.9235|0.9647|0.9304|0.9464|0.9312|0.9214|0.9647|gnomADg_FIN|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||||||||||rs4246503|4861|1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.9197|0.8971|0.9193|0.9196|0.9523|0.9172||||||||||0.9313|0.8992|0.9638|0.9324|0.9274|0.9235|0.9647|0.9304|0.9464|0.9312|0.9214|0.9647|gnomADg_FIN|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant&non_coding_transcript_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron||10/16|ENST00000477976.5:n.2891-832T>C|||||||rs4246503||-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.9197|0.8971|0.9193|0.9196|0.9523|0.9172||||||||||0.9313|0.8992|0.9638|0.9324|0.9274|0.9235|0.9647|0.9304|0.9464|0.9312|0.9214|0.9647|gnomADg_FIN|||||||||||||,G|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000483767|retained_intron||||||||||rs4246503|2375|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||0.9197|0.8971|0.9193|0.9196|0.9523|0.9172||||||||||0.9313|0.8992|0.9638|0.9324|0.9274|0.9235|0.9647|0.9304|0.9464|0.9312|0.9214|0.9647|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000487214|protein_coding_CDS_not_defined||||||||||rs4246503|4991|-1||SNV|HGNC|HGNC:24517||||3||||||||||||||0.9197|0.8971|0.9193|0.9196|0.9523|0.9172||||||||||0.9313|0.8992|0.9638|0.9324|0.9274|0.9235|0.9647|0.9304|0.9464|0.9312|0.9214|0.9647|gnomADg_FIN|||||||||||||,G|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000496938|protein_coding_CDS_not_defined||||||||||rs4246503|3873|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.9197|0.8971|0.9193|0.9196|0.9523|0.9172||||||||||0.9313|0.8992|0.9638|0.9324|0.9274|0.9235|0.9647|0.9304|0.9464|0.9312|0.9214|0.9647|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||||||||||rs4246503|4861|1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.9197|0.8971|0.9193|0.9196|0.9523|0.9172||||||||||0.9313|0.8992|0.9638|0.9324|0.9274|0.9235|0.9647|0.9304|0.9464|0.9312|0.9214|0.9647|gnomADg_FIN|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||||||||||rs4246503|4861|1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.9197|0.8971|0.9193|0.9196|0.9523|0.9172||||||||||0.9313|0.8992|0.9638|0.9324|0.9274|0.9235|0.9647|0.9304|0.9464|0.9312|0.9214|0.9647|gnomADg_FIN|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 949435 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=68;POPAF=7.3;TLOD=7.15;SRC=custom;GRP=custom;CSQ=G|intron_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||12/18|ENST00000327044.7:c.1444-832T>C|||||||rs4246503||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||0.9197|0.8971|0.9193|0.9196|0.9523|0.9172||||||||||0.9313|0.8992|0.9638|0.9324|0.9274|0.9235|0.9647|0.9304|0.9464|0.9312|0.9214|0.9647|gnomADg_FIN|||||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||||||||||rs4246503|4860|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.9197|0.8971|0.9193|0.9196|0.9523|0.9172||||||||||0.9313|0.8992|0.9638|0.9324|0.9274|0.9235|0.9647|0.9304|0.9464|0.9312|0.9214|0.9647|gnomADg_FIN|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||||||||||rs4246503|4861|1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.9197|0.8971|0.9193|0.9196|0.9523|0.9172||||||||||0.9313|0.8992|0.9638|0.9324|0.9274|0.9235|0.9647|0.9304|0.9464|0.9312|0.9214|0.9647|gnomADg_FIN|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant&non_coding_transcript_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron||10/16|ENST00000477976.5:n.2891-832T>C|||||||rs4246503||-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.9197|0.8971|0.9193|0.9196|0.9523|0.9172||||||||||0.9313|0.8992|0.9638|0.9324|0.9274|0.9235|0.9647|0.9304|0.9464|0.9312|0.9214|0.9647|gnomADg_FIN|||||||||||||,G|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000483767|retained_intron||||||||||rs4246503|2375|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||0.9197|0.8971|0.9193|0.9196|0.9523|0.9172||||||||||0.9313|0.8992|0.9638|0.9324|0.9274|0.9235|0.9647|0.9304|0.9464|0.9312|0.9214|0.9647|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000487214|protein_coding_CDS_not_defined||||||||||rs4246503|4991|-1||SNV|HGNC|HGNC:24517||||3||||||||||||||0.9197|0.8971|0.9193|0.9196|0.9523|0.9172||||||||||0.9313|0.8992|0.9638|0.9324|0.9274|0.9235|0.9647|0.9304|0.9464|0.9312|0.9214|0.9647|gnomADg_FIN|||||||||||||,G|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000496938|protein_coding_CDS_not_defined||||||||||rs4246503|3873|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.9197|0.8971|0.9193|0.9196|0.9523|0.9172||||||||||0.9313|0.8992|0.9638|0.9324|0.9274|0.9235|0.9647|0.9304|0.9464|0.9312|0.9214|0.9647|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||||||||||rs4246503|4861|1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.9197|0.8971|0.9193|0.9196|0.9523|0.9172||||||||||0.9313|0.8992|0.9638|0.9324|0.9274|0.9235|0.9647|0.9304|0.9464|0.9312|0.9214|0.9647|gnomADg_FIN|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||||||||||rs4246503|4861|1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.9197|0.8971|0.9193|0.9196|0.9523|0.9172||||||||||0.9313|0.8992|0.9638|0.9324|0.9274|0.9235|0.9647|0.9304|0.9464|0.9312|0.9214|0.9647|gnomADg_FIN|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 949628 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C2|1%2C1;DP=6;ECNT=1;GERMQ=39;MBQ=33,31;MFRL=0,0;MMQ=60,60;MPOS=78;POPAF=7.3;TLOD=5.97;SRC=custom;GRP=custom;CSQ=A|intron_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||12/18|ENST00000327044.7:c.1444-1025G>T|||||||||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||||||||||||||||||||||||||||||||||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,A|intron_variant&non_coding_transcript_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron||10/16|ENST00000477976.5:n.2891-1025G>T|||||||||-1||SNV|HGNC|HGNC:24517||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000483767|retained_intron|||||||||||2568|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000487214|protein_coding_CDS_not_defined|||||||||||4798|-1||SNV|HGNC|HGNC:24517||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000496938|protein_coding_CDS_not_defined|||||||||||4066|-1||SNV|HGNC|HGNC:24517||||5|||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,2:0.4:6:0,0:2,1:2,1:2,2,1,1 -chr1 950319 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=128;POPAF=7.3;TLOD=7.25;SRC=custom;GRP=custom;CSQ=G|intron_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||12/18|ENST00000327044.7:c.1443+808T>C|||||||rs4970376||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||0.9219|0.9062|0.9193|0.9187|0.9523|0.9172||||||||||0.9339|0.909|0.9638|0.9329|0.9273|0.9233|0.9638|0.9304|0.9463|0.9342|0.9214|0.9638|gnomADg_AMI&gnomADg_FIN|||||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,G|intron_variant&non_coding_transcript_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron||10/16|ENST00000477976.5:n.2890+808T>C|||||||rs4970376||-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.9219|0.9062|0.9193|0.9187|0.9523|0.9172||||||||||0.9339|0.909|0.9638|0.9329|0.9273|0.9233|0.9638|0.9304|0.9463|0.9342|0.9214|0.9638|gnomADg_AMI&gnomADg_FIN|||||||||||||,G|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000483767|retained_intron||||||||||rs4970376|3259|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||0.9219|0.9062|0.9193|0.9187|0.9523|0.9172||||||||||0.9339|0.909|0.9638|0.9329|0.9273|0.9233|0.9638|0.9304|0.9463|0.9342|0.9214|0.9638|gnomADg_AMI&gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000487214|protein_coding_CDS_not_defined||||||||||rs4970376|4107|-1||SNV|HGNC|HGNC:24517||||3||||||||||||||0.9219|0.9062|0.9193|0.9187|0.9523|0.9172||||||||||0.9339|0.909|0.9638|0.9329|0.9273|0.9233|0.9638|0.9304|0.9463|0.9342|0.9214|0.9638|gnomADg_AMI&gnomADg_FIN|||||||||||||,G|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000496938|protein_coding_CDS_not_defined||||||||||rs4970376|4757|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.9219|0.9062|0.9193|0.9187|0.9523|0.9172||||||||||0.9339|0.909|0.9638|0.9329|0.9273|0.9233|0.9638|0.9304|0.9463|0.9342|0.9214|0.9638|gnomADg_AMI&gnomADg_FIN||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 951408 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=2;GERMQ=44;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=97;POPAF=7.3;TLOD=3.28;SRC=custom;GRP=custom;CSQ=A|intron_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||11/18|ENST00000327044.7:c.1332-170C>T|||||||rs10465242||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||0.7091|0.4433|0.7176|0.7103|0.8986|0.8661||||||||||0.7685|0.4881|0.9419|0.7578|0.8652|0.7372|0.921|0.8259|0.9018|0.802|0.8612|0.9419|gnomADg_AMI||||29422604|||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,A|intron_variant&non_coding_transcript_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron||9/16|ENST00000477976.5:n.2779-170C>T|||||||rs10465242||-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.7091|0.4433|0.7176|0.7103|0.8986|0.8661||||||||||0.7685|0.4881|0.9419|0.7578|0.8652|0.7372|0.921|0.8259|0.9018|0.802|0.8612|0.9419|gnomADg_AMI||||29422604|||||||||,A|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000483767|retained_intron||||||||||rs10465242|4348|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||0.7091|0.4433|0.7176|0.7103|0.8986|0.8661||||||||||0.7685|0.4881|0.9419|0.7578|0.8652|0.7372|0.921|0.8259|0.9018|0.802|0.8612|0.9419|gnomADg_AMI||||29422604|||||||||,A|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000487214|protein_coding_CDS_not_defined||||||||||rs10465242|3018|-1||SNV|HGNC|HGNC:24517||||3||||||||||||||0.7091|0.4433|0.7176|0.7103|0.8986|0.8661||||||||||0.7685|0.4881|0.9419|0.7578|0.8652|0.7372|0.921|0.8259|0.9018|0.802|0.8612|0.9419|gnomADg_AMI||||29422604|||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344439|CTCF_binding_site||||||||||rs10465242||||SNV||||||||||||||||||||0.7091|0.4433|0.7176|0.7103|0.8986|0.8661||||||||||0.7685|0.4881|0.9419|0.7578|0.8652|0.7372|0.921|0.8259|0.9018|0.802|0.8612|0.9419|gnomADg_AMI||||29422604|||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918377|open_chromatin_region||||||||||rs10465242||||SNV||||||||||||||||||||0.7091|0.4433|0.7176|0.7103|0.8986|0.8661||||||||||0.7685|0.4881|0.9419|0.7578|0.8652|0.7372|0.921|0.8259|0.9018|0.802|0.8612|0.9419|gnomADg_AMI||||29422604||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 951437 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=2;GERMQ=47;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=95;POPAF=7.3;TLOD=7.08;SRC=custom;GRP=custom;CSQ=T|intron_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||11/18|ENST00000327044.7:c.1332-199G>A|||||||rs10465241||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||0.7097|0.4463|0.7176|0.7083|0.9006|0.865||||||||||0.7651|0.4809|0.9419|0.7566|0.8652|0.7364|0.9209|0.8259|0.9016|0.7995|0.8609|0.9419|gnomADg_AMI||||29422604|||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,T|intron_variant&non_coding_transcript_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron||9/16|ENST00000477976.5:n.2779-199G>A|||||||rs10465241||-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.7097|0.4463|0.7176|0.7083|0.9006|0.865||||||||||0.7651|0.4809|0.9419|0.7566|0.8652|0.7364|0.9209|0.8259|0.9016|0.7995|0.8609|0.9419|gnomADg_AMI||||29422604|||||||||,T|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000483767|retained_intron||||||||||rs10465241|4377|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||0.7097|0.4463|0.7176|0.7083|0.9006|0.865||||||||||0.7651|0.4809|0.9419|0.7566|0.8652|0.7364|0.9209|0.8259|0.9016|0.7995|0.8609|0.9419|gnomADg_AMI||||29422604|||||||||,T|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000487214|protein_coding_CDS_not_defined||||||||||rs10465241|2989|-1||SNV|HGNC|HGNC:24517||||3||||||||||||||0.7097|0.4463|0.7176|0.7083|0.9006|0.865||||||||||0.7651|0.4809|0.9419|0.7566|0.8652|0.7364|0.9209|0.8259|0.9016|0.7995|0.8609|0.9419|gnomADg_AMI||||29422604|||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344439|CTCF_binding_site||||||||||rs10465241||||SNV||||||||||||||||||||0.7097|0.4463|0.7176|0.7083|0.9006|0.865||||||||||0.7651|0.4809|0.9419|0.7566|0.8652|0.7364|0.9209|0.8259|0.9016|0.7995|0.8609|0.9419|gnomADg_AMI||||29422604|||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918377|open_chromatin_region||||||||||rs10465241||||SNV||||||||||||||||||||0.7097|0.4463|0.7176|0.7083|0.9006|0.865||||||||||0.7651|0.4809|0.9419|0.7566|0.8652|0.7364|0.9209|0.8259|0.9016|0.7995|0.8609|0.9419|gnomADg_AMI||||29422604||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.75:2:0,0:0,2:0,2:0,0,2,0 -chr1 951610 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=44;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=9;POPAF=7.3;TLOD=3.21;SRC=custom;GRP=custom;CSQ=A|intron_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||11/18|ENST00000327044.7:c.1332-372C>T|||||||||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||||||||||||||||||||||||||||||||||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,A|intron_variant&non_coding_transcript_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron||9/16|ENST00000477976.5:n.2779-372C>T|||||||||-1||SNV|HGNC|HGNC:24517||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000483767|retained_intron|||||||||||4550|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000487214|protein_coding_CDS_not_defined|||||||||||2816|-1||SNV|HGNC|HGNC:24517||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344439|CTCF_binding_site||||||||||||||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918377|open_chromatin_region||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.684:1:0,1:0,0:0,1:0,0,0,1 -chr1 952421 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=8;ECNT=1;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,42;MPOS=142;POPAF=7.3;TLOD=10.9;SRC=custom;GRP=custom;CSQ=G|synonymous_variant|LOW|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding|10/19||ENST00000327044.7:c.1182T>C|ENSP00000317992.6:p.Thr394%3D|1198|1182|394|T|acT/acC|rs3828047&COSV58989914||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||0.9223|0.9062|0.9193|0.9206|0.9523|0.9172|0.9378|0.9065|0.9545|0.9355|0.911|0.9606|0.9422|0.9389|0.9198|0.9341|0.9093|0.9638|0.933|0.9274|0.9242|0.9648|0.9304|0.9463|0.9336|0.9215|0.9648|gnomADg_FIN||0&1|0&1|26308735|||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,G|non_coding_transcript_exon_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron|8/17||ENST00000477976.5:n.2629T>C||2629|||||rs3828047&COSV58989914||-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.9223|0.9062|0.9193|0.9206|0.9523|0.9172|0.9378|0.9065|0.9545|0.9355|0.911|0.9606|0.9422|0.9389|0.9198|0.9341|0.9093|0.9638|0.933|0.9274|0.9242|0.9648|0.9304|0.9463|0.9336|0.9215|0.9648|gnomADg_FIN||0&1|0&1|26308735|||||||||,G|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000487214|protein_coding_CDS_not_defined||||||||||rs3828047&COSV58989914|2005|-1||SNV|HGNC|HGNC:24517||||3||||||||||||||0.9223|0.9062|0.9193|0.9206|0.9523|0.9172|0.9378|0.9065|0.9545|0.9355|0.911|0.9606|0.9422|0.9389|0.9198|0.9341|0.9093|0.9638|0.933|0.9274|0.9242|0.9648|0.9304|0.9463|0.9336|0.9215|0.9648|gnomADg_FIN||0&1|0&1|26308735||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.787:3:0,1:0,1:0,2:0,0,1,2 -chr1 952421 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|5%2C1;DP=16;ECNT=2;GERMQ=58;MBQ=0,34;MFRL=0,0;MMQ=60,34;MPOS=134;POPAF=7.3;TLOD=20.78;SRC=custom;GRP=custom;CSQ=G|synonymous_variant|LOW|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding|10/19||ENST00000327044.7:c.1182T>C|ENSP00000317992.6:p.Thr394%3D|1198|1182|394|T|acT/acC|rs3828047&COSV58989914||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||0.9223|0.9062|0.9193|0.9206|0.9523|0.9172|0.9378|0.9065|0.9545|0.9355|0.911|0.9606|0.9422|0.9389|0.9198|0.9341|0.9093|0.9638|0.933|0.9274|0.9242|0.9648|0.9304|0.9463|0.9336|0.9215|0.9648|gnomADg_FIN||0&1|0&1|26308735|||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,G|non_coding_transcript_exon_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron|8/17||ENST00000477976.5:n.2629T>C||2629|||||rs3828047&COSV58989914||-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.9223|0.9062|0.9193|0.9206|0.9523|0.9172|0.9378|0.9065|0.9545|0.9355|0.911|0.9606|0.9422|0.9389|0.9198|0.9341|0.9093|0.9638|0.933|0.9274|0.9242|0.9648|0.9304|0.9463|0.9336|0.9215|0.9648|gnomADg_FIN||0&1|0&1|26308735|||||||||,G|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000487214|protein_coding_CDS_not_defined||||||||||rs3828047&COSV58989914|2005|-1||SNV|HGNC|HGNC:24517||||3||||||||||||||0.9223|0.9062|0.9193|0.9206|0.9523|0.9172|0.9378|0.9065|0.9545|0.9355|0.911|0.9606|0.9422|0.9389|0.9198|0.9341|0.9093|0.9638|0.933|0.9274|0.9242|0.9648|0.9304|0.9463|0.9336|0.9215|0.9648|gnomADg_FIN||0&1|0&1|26308735||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.897:6:0,1:0,5:0,6:0,0,5,1 -chr1 952450 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=18%2C15|1%2C1;DP=35;ECNT=2;GERMQ=93;MBQ=32,34;MFRL=0,0;MMQ=51,60;MPOS=122;POPAF=7.3;TLOD=5.13;SRC=custom;GRP=custom;CSQ=G|missense_variant|MODERATE|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding|10/19||ENST00000327044.7:c.1153G>C|ENSP00000317992.6:p.Ala385Pro|1169|1153|385|A/P|Gcc/Ccc|||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C|||deleterious(0)|probably_damaging(1)||||||||||||||||||||||||||||||||||||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,G|non_coding_transcript_exon_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron|8/17||ENST00000477976.5:n.2600G>C||2600|||||||-1||SNV|HGNC|HGNC:24517||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000487214|protein_coding_CDS_not_defined|||||||||||1976|-1||SNV|HGNC|HGNC:24517||||3|||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:33,2:0.091:35:1,0:17,1:19,1:18,15,1,1 -chr1 952567 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=13%2C15|1%2C1;DP=31;ECNT=1;GERMQ=91;MBQ=32,30;MFRL=0,0;MMQ=48,53;MPOS=12;POPAF=7.3;TLOD=4.46;SRC=custom;GRP=custom;CSQ=G|missense_variant|MODERATE|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding|10/19||ENST00000327044.7:c.1036T>C|ENSP00000317992.6:p.Phe346Leu|1052|1036|346|F/L|Ttc/Ctc|||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C|||deleterious(0)|probably_damaging(0.999)||||||||||||||||||||||||||||||||||||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,G|non_coding_transcript_exon_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron|8/17||ENST00000477976.5:n.2483T>C||2483|||||||-1||SNV|HGNC|HGNC:24517||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000487214|protein_coding_CDS_not_defined|||||||||||1859|-1||SNV|HGNC|HGNC:24517||||3|||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:28,2:0.104:30:3,0:13,1:16,1:13,15,1,1 -chr1 953259 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C4;DP=6;ECNT=2;GERMQ=58;MBQ=0,33;MFRL=0,0;MMQ=60,54;MPOS=114;POPAF=7.3;TLOD=17.66;SRC=custom;GRP=custom;CSQ=C|synonymous_variant|LOW|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding|9/19||ENST00000327044.7:c.918A>G|ENSP00000317992.6:p.Glu306%3D|934|918|306|E|gaA/gaG|rs3748596&COSV58989925||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||0.9227|0.907|0.9193|0.9206|0.9533|0.9172|0.9378|0.9066|0.9546|0.9354|0.9109|0.9606|0.9423|0.9386|0.9198|0.9342|0.9092|0.9638|0.9331|0.9274|0.9246|0.9647|0.9304|0.9464|0.934|0.9216|0.9647|gnomADg_FIN||0&1|0&1||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,C|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000469563|retained_intron||||||||||rs3748596&COSV58989925|4987|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||0.9227|0.907|0.9193|0.9206|0.9533|0.9172|0.9378|0.9066|0.9546|0.9354|0.9109|0.9606|0.9423|0.9386|0.9198|0.9342|0.9092|0.9638|0.9331|0.9274|0.9246|0.9647|0.9304|0.9464|0.934|0.9216|0.9647|gnomADg_FIN||0&1|0&1||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron|7/17||ENST00000477976.5:n.2365A>G||2365|||||rs3748596&COSV58989925||-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.9227|0.907|0.9193|0.9206|0.9533|0.9172|0.9378|0.9066|0.9546|0.9354|0.9109|0.9606|0.9423|0.9386|0.9198|0.9342|0.9092|0.9638|0.9331|0.9274|0.9246|0.9647|0.9304|0.9464|0.934|0.9216|0.9647|gnomADg_FIN||0&1|0&1||||||||||,C|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000487214|protein_coding_CDS_not_defined||||||||||rs3748596&COSV58989925|1167|-1||SNV|HGNC|HGNC:24517||||3||||||||||||||0.9227|0.907|0.9193|0.9206|0.9533|0.9172|0.9378|0.9066|0.9546|0.9354|0.9109|0.9606|0.9423|0.9386|0.9198|0.9342|0.9092|0.9638|0.9331|0.9274|0.9246|0.9647|0.9304|0.9464|0.934|0.9216|0.9647|gnomADg_FIN||0&1|0&1|||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.855:6:0,2:0,2:0,5:0,0,2,4 -chr1 953259 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=2;GERMQ=44;MBQ=0,34;MFRL=0,0;MMQ=60,32;MPOS=137;POPAF=7.3;TLOD=3.38;SRC=custom;GRP=custom;CSQ=C|synonymous_variant|LOW|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding|9/19||ENST00000327044.7:c.918A>G|ENSP00000317992.6:p.Glu306%3D|934|918|306|E|gaA/gaG|rs3748596&COSV58989925||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||0.9227|0.907|0.9193|0.9206|0.9533|0.9172|0.9378|0.9066|0.9546|0.9354|0.9109|0.9606|0.9423|0.9386|0.9198|0.9342|0.9092|0.9638|0.9331|0.9274|0.9246|0.9647|0.9304|0.9464|0.934|0.9216|0.9647|gnomADg_FIN||0&1|0&1||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,C|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000469563|retained_intron||||||||||rs3748596&COSV58989925|4987|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||0.9227|0.907|0.9193|0.9206|0.9533|0.9172|0.9378|0.9066|0.9546|0.9354|0.9109|0.9606|0.9423|0.9386|0.9198|0.9342|0.9092|0.9638|0.9331|0.9274|0.9246|0.9647|0.9304|0.9464|0.934|0.9216|0.9647|gnomADg_FIN||0&1|0&1||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron|7/17||ENST00000477976.5:n.2365A>G||2365|||||rs3748596&COSV58989925||-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.9227|0.907|0.9193|0.9206|0.9533|0.9172|0.9378|0.9066|0.9546|0.9354|0.9109|0.9606|0.9423|0.9386|0.9198|0.9342|0.9092|0.9638|0.9331|0.9274|0.9246|0.9647|0.9304|0.9464|0.934|0.9216|0.9647|gnomADg_FIN||0&1|0&1||||||||||,C|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000487214|protein_coding_CDS_not_defined||||||||||rs3748596&COSV58989925|1167|-1||SNV|HGNC|HGNC:24517||||3||||||||||||||0.9227|0.907|0.9193|0.9206|0.9533|0.9172|0.9378|0.9066|0.9546|0.9354|0.9109|0.9606|0.9423|0.9386|0.9198|0.9342|0.9092|0.9638|0.9331|0.9274|0.9246|0.9647|0.9304|0.9464|0.934|0.9216|0.9647|gnomADg_FIN||0&1|0&1|||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 953279 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C4;DP=5;ECNT=2;GERMQ=55;MBQ=0,34;MFRL=0,0;MMQ=60,48;MPOS=108;POPAF=7.3;TLOD=17.3;SRC=custom;GRP=custom;CSQ=C|missense_variant|MODERATE|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding|9/19||ENST00000327044.7:c.898A>G|ENSP00000317992.6:p.Ile300Val|914|898|300|I/V|Atc/Gtc|rs3748597&COSV58989936||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C|||tolerated(0.55)|benign(0)||||0.9227|0.907|0.9193|0.9206|0.9533|0.9172|0.9378|0.9066|0.9546|0.9355|0.9109|0.9606|0.9422|0.9388|0.9197|0.9342|0.9093|0.9638|0.9331|0.9274|0.9245|0.9647|0.9304|0.9464|0.9336|0.9214|0.9647|gnomADg_FIN||0&1|0&1|31242667|||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,C|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000469563|retained_intron||||||||||rs3748597&COSV58989936|4967|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||0.9227|0.907|0.9193|0.9206|0.9533|0.9172|0.9378|0.9066|0.9546|0.9355|0.9109|0.9606|0.9422|0.9388|0.9197|0.9342|0.9093|0.9638|0.9331|0.9274|0.9245|0.9647|0.9304|0.9464|0.9336|0.9214|0.9647|gnomADg_FIN||0&1|0&1|31242667|||||||||,C|non_coding_transcript_exon_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron|7/17||ENST00000477976.5:n.2345A>G||2345|||||rs3748597&COSV58989936||-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.9227|0.907|0.9193|0.9206|0.9533|0.9172|0.9378|0.9066|0.9546|0.9355|0.9109|0.9606|0.9422|0.9388|0.9197|0.9342|0.9093|0.9638|0.9331|0.9274|0.9245|0.9647|0.9304|0.9464|0.9336|0.9214|0.9647|gnomADg_FIN||0&1|0&1|31242667|||||||||,C|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000487214|protein_coding_CDS_not_defined||||||||||rs3748597&COSV58989936|1147|-1||SNV|HGNC|HGNC:24517||||3||||||||||||||0.9227|0.907|0.9193|0.9206|0.9533|0.9172|0.9378|0.9066|0.9546|0.9355|0.9109|0.9606|0.9422|0.9388|0.9197|0.9342|0.9093|0.9638|0.9331|0.9274|0.9245|0.9647|0.9304|0.9464|0.9336|0.9214|0.9647|gnomADg_FIN||0&1|0&1|31242667||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.857:5:0,3:0,1:0,5:0,0,1,4 -chr1 953279 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=2;GERMQ=44;MBQ=0,34;MFRL=0,0;MMQ=60,32;MPOS=117;POPAF=7.3;TLOD=3.38;SRC=custom;GRP=custom;CSQ=C|missense_variant|MODERATE|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding|9/19||ENST00000327044.7:c.898A>G|ENSP00000317992.6:p.Ile300Val|914|898|300|I/V|Atc/Gtc|rs3748597&COSV58989936||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C|||tolerated(0.55)|benign(0)||||0.9227|0.907|0.9193|0.9206|0.9533|0.9172|0.9378|0.9066|0.9546|0.9355|0.9109|0.9606|0.9422|0.9388|0.9197|0.9342|0.9093|0.9638|0.9331|0.9274|0.9245|0.9647|0.9304|0.9464|0.9336|0.9214|0.9647|gnomADg_FIN||0&1|0&1|31242667|||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,C|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000469563|retained_intron||||||||||rs3748597&COSV58989936|4967|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||0.9227|0.907|0.9193|0.9206|0.9533|0.9172|0.9378|0.9066|0.9546|0.9355|0.9109|0.9606|0.9422|0.9388|0.9197|0.9342|0.9093|0.9638|0.9331|0.9274|0.9245|0.9647|0.9304|0.9464|0.9336|0.9214|0.9647|gnomADg_FIN||0&1|0&1|31242667|||||||||,C|non_coding_transcript_exon_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron|7/17||ENST00000477976.5:n.2345A>G||2345|||||rs3748597&COSV58989936||-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.9227|0.907|0.9193|0.9206|0.9533|0.9172|0.9378|0.9066|0.9546|0.9355|0.9109|0.9606|0.9422|0.9388|0.9197|0.9342|0.9093|0.9638|0.9331|0.9274|0.9245|0.9647|0.9304|0.9464|0.9336|0.9214|0.9647|gnomADg_FIN||0&1|0&1|31242667|||||||||,C|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000487214|protein_coding_CDS_not_defined||||||||||rs3748597&COSV58989936|1147|-1||SNV|HGNC|HGNC:24517||||3||||||||||||||0.9227|0.907|0.9193|0.9206|0.9533|0.9172|0.9378|0.9066|0.9546|0.9355|0.9109|0.9606|0.9422|0.9388|0.9197|0.9342|0.9093|0.9638|0.9331|0.9274|0.9245|0.9647|0.9304|0.9464|0.9336|0.9214|0.9647|gnomADg_FIN||0&1|0&1|31242667||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 954258 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|5%2C6;DP=12;ECNT=2;GERMQ=72;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=40;POPAF=7.3;TLOD=40.72;SRC=custom;GRP=custom;CSQ=C|intron_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||6/18|ENST00000327044.7:c.699-176C>G|||||||rs13303206||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||0.9016|0.8374|0.9092|0.9216|0.9453|0.9172||||||||||0.9038|0.8352|0.8816|0.9183|0.9113|0.9255|0.9404|0.9051|0.9337|0.9112|0.9159|0.9453|EUR|||||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,C|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000469563|retained_intron||||||||||rs13303206|3988|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||0.9016|0.8374|0.9092|0.9216|0.9453|0.9172||||||||||0.9038|0.8352|0.8816|0.9183|0.9113|0.9255|0.9404|0.9051|0.9337|0.9112|0.9159|0.9453|EUR|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron|5/17||ENST00000477976.5:n.1970C>G||1970|||||rs13303206||-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.9016|0.8374|0.9092|0.9216|0.9453|0.9172||||||||||0.9038|0.8352|0.8816|0.9183|0.9113|0.9255|0.9404|0.9051|0.9337|0.9112|0.9159|0.9453|EUR|||||||||||||,C|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000487214|protein_coding_CDS_not_defined||||||||||rs13303206|168|-1||SNV|HGNC|HGNC:24517||||3||||||||||||||0.9016|0.8374|0.9092|0.9216|0.9453|0.9172||||||||||0.9038|0.8352|0.8816|0.9183|0.9113|0.9255|0.9404|0.9051|0.9337|0.9112|0.9159|0.9453|EUR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,11:0.893:11:0,1:0,5:0,7:0,0,5,6 -chr1 954258 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|8%2C8;DP=16;ECNT=2;GERMQ=88;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=57;POPAF=7.3;TLOD=61.48;SRC=custom;GRP=custom;CSQ=C|intron_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||6/18|ENST00000327044.7:c.699-176C>G|||||||rs13303206||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||0.9016|0.8374|0.9092|0.9216|0.9453|0.9172||||||||||0.9038|0.8352|0.8816|0.9183|0.9113|0.9255|0.9404|0.9051|0.9337|0.9112|0.9159|0.9453|EUR|||||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,C|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000469563|retained_intron||||||||||rs13303206|3988|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||0.9016|0.8374|0.9092|0.9216|0.9453|0.9172||||||||||0.9038|0.8352|0.8816|0.9183|0.9113|0.9255|0.9404|0.9051|0.9337|0.9112|0.9159|0.9453|EUR|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron|5/17||ENST00000477976.5:n.1970C>G||1970|||||rs13303206||-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.9016|0.8374|0.9092|0.9216|0.9453|0.9172||||||||||0.9038|0.8352|0.8816|0.9183|0.9113|0.9255|0.9404|0.9051|0.9337|0.9112|0.9159|0.9453|EUR|||||||||||||,C|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000487214|protein_coding_CDS_not_defined||||||||||rs13303206|168|-1||SNV|HGNC|HGNC:24517||||3||||||||||||||0.9016|0.8374|0.9092|0.9216|0.9453|0.9172||||||||||0.9038|0.8352|0.8816|0.9183|0.9113|0.9255|0.9404|0.9051|0.9337|0.9112|0.9159|0.9453|EUR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,16:0.9:16:0,0:0,8:0,8:0,0,8,8 -chr1 954333 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|9%2C7;DP=17;ECNT=2;GERMQ=87;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=88;POPAF=7.3;TLOD=56.99;SRC=custom;GRP=custom;CSQ=A|intron_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||6/18|ENST00000327044.7:c.699-251G>T|||||||rs13303051||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||0.8974|0.8245|0.9063|0.9206|0.9463|0.9151||||||||||0.9009|0.8255|0.8835|0.9174|0.911|0.9251|0.9403|0.9051|0.9334|0.909|0.9157|0.9463|EUR|||||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,A|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000469563|retained_intron||||||||||rs13303051|3913|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||0.8974|0.8245|0.9063|0.9206|0.9463|0.9151||||||||||0.9009|0.8255|0.8835|0.9174|0.911|0.9251|0.9403|0.9051|0.9334|0.909|0.9157|0.9463|EUR|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron|5/17||ENST00000477976.5:n.1895G>T||1895|||||rs13303051||-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.8974|0.8245|0.9063|0.9206|0.9463|0.9151||||||||||0.9009|0.8255|0.8835|0.9174|0.911|0.9251|0.9403|0.9051|0.9334|0.909|0.9157|0.9463|EUR|||||||||||||,A|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000487214|protein_coding_CDS_not_defined||||||||||rs13303051|93|-1||SNV|HGNC|HGNC:24517||||3||||||||||||||0.8974|0.8245|0.9063|0.9206|0.9463|0.9151||||||||||0.9009|0.8255|0.8835|0.9174|0.911|0.9251|0.9403|0.9051|0.9334|0.909|0.9157|0.9463|EUR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,16:0.917:16:0,0:0,9:0,10:0,0,9,7 -chr1 954333 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C5;DP=10;ECNT=2;GERMQ=67;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=44;POPAF=7.3;TLOD=32.99;SRC=custom;GRP=custom;CSQ=A|intron_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||6/18|ENST00000327044.7:c.699-251G>T|||||||rs13303051||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||0.8974|0.8245|0.9063|0.9206|0.9463|0.9151||||||||||0.9009|0.8255|0.8835|0.9174|0.911|0.9251|0.9403|0.9051|0.9334|0.909|0.9157|0.9463|EUR|||||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,A|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000469563|retained_intron||||||||||rs13303051|3913|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||0.8974|0.8245|0.9063|0.9206|0.9463|0.9151||||||||||0.9009|0.8255|0.8835|0.9174|0.911|0.9251|0.9403|0.9051|0.9334|0.909|0.9157|0.9463|EUR|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron|5/17||ENST00000477976.5:n.1895G>T||1895|||||rs13303051||-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.8974|0.8245|0.9063|0.9206|0.9463|0.9151||||||||||0.9009|0.8255|0.8835|0.9174|0.911|0.9251|0.9403|0.9051|0.9334|0.909|0.9157|0.9463|EUR|||||||||||||,A|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000487214|protein_coding_CDS_not_defined||||||||||rs13303051|93|-1||SNV|HGNC|HGNC:24517||||3||||||||||||||0.8974|0.8245|0.9063|0.9206|0.9463|0.9151||||||||||0.9009|0.8255|0.8835|0.9174|0.911|0.9251|0.9403|0.9051|0.9334|0.909|0.9157|0.9463|EUR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,9:0.864:9:0,0:0,4:0,5:0,0,4,5 -chr1 954574 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=1;GERMQ=52;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=94;POPAF=7.3;TLOD=15.23;SRC=custom;GRP=custom;CSQ=G|intron_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||6/18|ENST00000327044.7:c.699-492T>C|||||||rs926393717||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C|||||||||||||||||||||||1.972e-05|0|0|0|0.000576|0|0|0|1.47e-05|0|0|0.000576|gnomADg_ASJ|||||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,G|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000469563|retained_intron||||||||||rs926393717|3672|-1||SNV|HGNC|HGNC:24517||||2|||||||||||||||||||||||||||||1.972e-05|0|0|0|0.000576|0|0|0|1.47e-05|0|0|0.000576|gnomADg_ASJ|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron||4/16|ENST00000477976.5:n.1705-51T>C|||||||rs926393717||-1||SNV|HGNC|HGNC:24517||||5|||||||||||||||||||||||||||||1.972e-05|0|0|0|0.000576|0|0|0|1.47e-05|0|0|0.000576|gnomADg_ASJ|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000487214|protein_coding_CDS_not_defined||6/6|ENST00000487214.1:n.768-51T>C|||||||rs926393717||-1||SNV|HGNC|HGNC:24517||||3|||||||||||||||||||||||||||||1.972e-05|0|0|0|0.000576|0|0|0|1.47e-05|0|0|0.000576|gnomADg_ASJ||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 954724 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|6%2C7;DP=15;ECNT=1;GERMQ=52;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=114;POPAF=7.3;TLOD=45.61;SRC=custom;GRP=custom;CSQ=A|intron_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||6/18|ENST00000327044.7:c.699-642C>T|||||||rs28631199||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||0.1789|0.0582|0.255|0.0853|0.2614|0.2996||||||||||0.1992|0.07519|0.3319|0.2413|0.2983|0.07793|0.2624|0.2437|0.2512|0.2217|0.2805|0.3319|gnomADg_AMI|||||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,A|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000469563|retained_intron||||||||||rs28631199|3522|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||0.1789|0.0582|0.255|0.0853|0.2614|0.2996||||||||||0.1992|0.07519|0.3319|0.2413|0.2983|0.07793|0.2624|0.2437|0.2512|0.2217|0.2805|0.3319|gnomADg_AMI|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron||4/16|ENST00000477976.5:n.1705-201C>T|||||||rs28631199||-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.1789|0.0582|0.255|0.0853|0.2614|0.2996||||||||||0.1992|0.07519|0.3319|0.2413|0.2983|0.07793|0.2624|0.2437|0.2512|0.2217|0.2805|0.3319|gnomADg_AMI|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000487214|protein_coding_CDS_not_defined||6/6|ENST00000487214.1:n.768-201C>T|||||||rs28631199||-1||SNV|HGNC|HGNC:24517||||3||||||||||||||0.1789|0.0582|0.255|0.0853|0.2614|0.2996||||||||||0.1992|0.07519|0.3319|0.2413|0.2983|0.07793|0.2624|0.2437|0.2512|0.2217|0.2805|0.3319|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,13:0.8:15:0,0:1,6:1,7:1,1,6,7 -chr1 955384 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=6%2C7|1%2C1;DP=17;ECNT=1;GERMQ=55;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=73;POPAF=7.3;TLOD=5.6;SRC=custom;GRP=custom;CSQ=T|intron_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||6/18|ENST00000327044.7:c.698+539G>A|||||||rs961513220||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C|||||||||||||||||||||||1.971e-05|2.412e-05|0|0|0|0|0|0|2.94e-05|0|0|2.94e-05|gnomADg_NFE|||||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,T|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000469563|retained_intron||||||||||rs961513220|2862|-1||SNV|HGNC|HGNC:24517||||2|||||||||||||||||||||||||||||1.971e-05|2.412e-05|0|0|0|0|0|0|2.94e-05|0|0|2.94e-05|gnomADg_NFE|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron||4/16|ENST00000477976.5:n.1704+539G>A|||||||rs961513220||-1||SNV|HGNC|HGNC:24517||||5|||||||||||||||||||||||||||||1.971e-05|2.412e-05|0|0|0|0|0|0|2.94e-05|0|0|2.94e-05|gnomADg_NFE|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000487214|protein_coding_CDS_not_defined||6/6|ENST00000487214.1:n.767+539G>A|||||||rs961513220||-1||SNV|HGNC|HGNC:24517||||3|||||||||||||||||||||||||||||1.971e-05|2.412e-05|0|0|0|0|0|0|2.94e-05|0|0|2.94e-05|gnomADg_NFE||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:13,2:0.182:15:0,0:6,1:8,1:6,7,1,1 -chr1 955641 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C4;DP=9;ECNT=2;GERMQ=63;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=36;POPAF=7.3;TLOD=25.25;SRC=custom;GRP=custom;CSQ=A|intron_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||6/18|ENST00000327044.7:c.698+282C>T|||||||rs13302957||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||0.8291|0.7504|0.8069|0.7768|0.9463|0.8845||||||||||0.8783|0.7697|0.9638|0.8334|0.9179|0.7996|0.9629|0.9241|0.9436|0.8805|0.8793|0.9638|gnomADg_AMI||||29422604|||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,A|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding||||||||||rs13302957|4943|1||SNV|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0||||||||0.8291|0.7504|0.8069|0.7768|0.9463|0.8845||||||||||0.8783|0.7697|0.9638|0.8334|0.9179|0.7996|0.9629|0.9241|0.9436|0.8805|0.8793|0.9638|gnomADg_AMI||||29422604|||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,A|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000469563|retained_intron||||||||||rs13302957|2605|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||0.8291|0.7504|0.8069|0.7768|0.9463|0.8845||||||||||0.8783|0.7697|0.9638|0.8334|0.9179|0.7996|0.9629|0.9241|0.9436|0.8805|0.8793|0.9638|gnomADg_AMI||||29422604|||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron||4/16|ENST00000477976.5:n.1704+282C>T|||||||rs13302957||-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.8291|0.7504|0.8069|0.7768|0.9463|0.8845||||||||||0.8783|0.7697|0.9638|0.8334|0.9179|0.7996|0.9629|0.9241|0.9436|0.8805|0.8793|0.9638|gnomADg_AMI||||29422604|||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000487214|protein_coding_CDS_not_defined||6/6|ENST00000487214.1:n.767+282C>T|||||||rs13302957||-1||SNV|HGNC|HGNC:24517||||3||||||||||||||0.8291|0.7504|0.8069|0.7768|0.9463|0.8845||||||||||0.8783|0.7697|0.9638|0.8334|0.9179|0.7996|0.9629|0.9241|0.9436|0.8805|0.8793|0.9638|gnomADg_AMI||||29422604||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.841:8:0,0:0,4:0,4:0,0,4,4 -chr1 955641 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C3;DP=7;ECNT=2;GERMQ=61;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=54;POPAF=7.3;TLOD=26.06;SRC=custom;GRP=custom;CSQ=A|intron_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||6/18|ENST00000327044.7:c.698+282C>T|||||||rs13302957||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||0.8291|0.7504|0.8069|0.7768|0.9463|0.8845||||||||||0.8783|0.7697|0.9638|0.8334|0.9179|0.7996|0.9629|0.9241|0.9436|0.8805|0.8793|0.9638|gnomADg_AMI||||29422604|||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,A|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding||||||||||rs13302957|4943|1||SNV|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0||||||||0.8291|0.7504|0.8069|0.7768|0.9463|0.8845||||||||||0.8783|0.7697|0.9638|0.8334|0.9179|0.7996|0.9629|0.9241|0.9436|0.8805|0.8793|0.9638|gnomADg_AMI||||29422604|||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,A|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000469563|retained_intron||||||||||rs13302957|2605|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||0.8291|0.7504|0.8069|0.7768|0.9463|0.8845||||||||||0.8783|0.7697|0.9638|0.8334|0.9179|0.7996|0.9629|0.9241|0.9436|0.8805|0.8793|0.9638|gnomADg_AMI||||29422604|||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron||4/16|ENST00000477976.5:n.1704+282C>T|||||||rs13302957||-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.8291|0.7504|0.8069|0.7768|0.9463|0.8845||||||||||0.8783|0.7697|0.9638|0.8334|0.9179|0.7996|0.9629|0.9241|0.9436|0.8805|0.8793|0.9638|gnomADg_AMI||||29422604|||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000487214|protein_coding_CDS_not_defined||6/6|ENST00000487214.1:n.767+282C>T|||||||rs13302957||-1||SNV|HGNC|HGNC:24517||||3||||||||||||||0.8291|0.7504|0.8069|0.7768|0.9463|0.8845||||||||||0.8783|0.7697|0.9638|0.8334|0.9179|0.7996|0.9629|0.9241|0.9436|0.8805|0.8793|0.9638|gnomADg_AMI||||29422604||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,7:0.857:7:0,0:0,4:0,5:0,0,4,3 -chr1 955679 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|2%2C1;DP=5;ECNT=2;GERMQ=37;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=28;POPAF=7.3;TLOD=9.92;SRC=custom;GRP=custom;CSQ=T|intron_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||6/18|ENST00000327044.7:c.698+244G>A|||||||rs13303065||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||0.4533|0.1051|0.4424|0.624|0.6332|0.5706||||||||||0.4937|0.1866|0.5132|0.4884|0.5574|0.6572|0.6285|0.5633|0.6379|0.5249|0.5762|0.6572|gnomADg_EAS|||1|33462484|||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,T|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding||||||||||rs13303065|4905|1||SNV|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0||||||||0.4533|0.1051|0.4424|0.624|0.6332|0.5706||||||||||0.4937|0.1866|0.5132|0.4884|0.5574|0.6572|0.6285|0.5633|0.6379|0.5249|0.5762|0.6572|gnomADg_EAS|||1|33462484|||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,T|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000469563|retained_intron||||||||||rs13303065|2567|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||0.4533|0.1051|0.4424|0.624|0.6332|0.5706||||||||||0.4937|0.1866|0.5132|0.4884|0.5574|0.6572|0.6285|0.5633|0.6379|0.5249|0.5762|0.6572|gnomADg_EAS|||1|33462484|||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron||4/16|ENST00000477976.5:n.1704+244G>A|||||||rs13303065||-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.4533|0.1051|0.4424|0.624|0.6332|0.5706||||||||||0.4937|0.1866|0.5132|0.4884|0.5574|0.6572|0.6285|0.5633|0.6379|0.5249|0.5762|0.6572|gnomADg_EAS|||1|33462484|||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000487214|protein_coding_CDS_not_defined||6/6|ENST00000487214.1:n.767+244G>A|||||||rs13303065||-1||SNV|HGNC|HGNC:24517||||3||||||||||||||0.4533|0.1051|0.4424|0.624|0.6332|0.5706||||||||||0.4937|0.1866|0.5132|0.4884|0.5574|0.6572|0.6285|0.5633|0.6379|0.5249|0.5762|0.6572|gnomADg_EAS|||1|33462484||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,3:0.6:5:0,0:1,2:1,2:1,1,2,1 -chr1 955679 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C0|2%2C2;DP=5;ECNT=2;GERMQ=40;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=57;POPAF=7.3;TLOD=13.63;SRC=custom;GRP=custom;CSQ=T|intron_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||6/18|ENST00000327044.7:c.698+244G>A|||||||rs13303065||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||0.4533|0.1051|0.4424|0.624|0.6332|0.5706||||||||||0.4937|0.1866|0.5132|0.4884|0.5574|0.6572|0.6285|0.5633|0.6379|0.5249|0.5762|0.6572|gnomADg_EAS|||1|33462484|||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,T|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding||||||||||rs13303065|4905|1||SNV|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0||||||||0.4533|0.1051|0.4424|0.624|0.6332|0.5706||||||||||0.4937|0.1866|0.5132|0.4884|0.5574|0.6572|0.6285|0.5633|0.6379|0.5249|0.5762|0.6572|gnomADg_EAS|||1|33462484|||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,T|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000469563|retained_intron||||||||||rs13303065|2567|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||0.4533|0.1051|0.4424|0.624|0.6332|0.5706||||||||||0.4937|0.1866|0.5132|0.4884|0.5574|0.6572|0.6285|0.5633|0.6379|0.5249|0.5762|0.6572|gnomADg_EAS|||1|33462484|||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron||4/16|ENST00000477976.5:n.1704+244G>A|||||||rs13303065||-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.4533|0.1051|0.4424|0.624|0.6332|0.5706||||||||||0.4937|0.1866|0.5132|0.4884|0.5574|0.6572|0.6285|0.5633|0.6379|0.5249|0.5762|0.6572|gnomADg_EAS|||1|33462484|||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000487214|protein_coding_CDS_not_defined||6/6|ENST00000487214.1:n.767+244G>A|||||||rs13303065||-1||SNV|HGNC|HGNC:24517||||3||||||||||||||0.4533|0.1051|0.4424|0.624|0.6332|0.5706||||||||||0.4937|0.1866|0.5132|0.4884|0.5574|0.6572|0.6285|0.5633|0.6379|0.5249|0.5762|0.6572|gnomADg_EAS|||1|33462484||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,4:0.6:5:0,0:1,2:1,2:1,0,2,2 -chr1 956565 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C2|2%2C2;DP=6;ECNT=1;GERMQ=36;MBQ=31,33;MFRL=0,0;MMQ=60,60;MPOS=38;POPAF=7.3;TLOD=13.13;SRC=custom;GRP=custom;CSQ=G|intron_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||4/18|ENST00000327044.7:c.486+329T>C|||||||rs13303106||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||0.4541|0.1051|0.4424|0.626|0.6332|0.5726||||||||||0.4942|0.1869|0.5132|0.4885|0.5619|0.6588|0.628|0.5633|0.6384|0.5267|0.5786|0.6588|gnomADg_EAS|||||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,G|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding||||||||||rs13303106|4019|1||SNV|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0||||||||0.4541|0.1051|0.4424|0.626|0.6332|0.5726||||||||||0.4942|0.1869|0.5132|0.4885|0.5619|0.6588|0.628|0.5633|0.6384|0.5267|0.5786|0.6588|gnomADg_EAS|||||||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,G|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000463212|retained_intron||||||||||rs13303106|4884|1||SNV|HGNC|HGNC:24023||||1||||||||||||||0.4541|0.1051|0.4424|0.626|0.6332|0.5726||||||||||0.4942|0.1869|0.5132|0.4885|0.5619|0.6588|0.628|0.5633|0.6384|0.5267|0.5786|0.6588|gnomADg_EAS|||||||||||||,G|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000469563|retained_intron||||||||||rs13303106|1681|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||0.4541|0.1051|0.4424|0.626|0.6332|0.5726||||||||||0.4942|0.1869|0.5132|0.4885|0.5619|0.6588|0.628|0.5633|0.6384|0.5267|0.5786|0.6588|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron||2/16|ENST00000477976.5:n.1492+329T>C|||||||rs13303106||-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.4541|0.1051|0.4424|0.626|0.6332|0.5726||||||||||0.4942|0.1869|0.5132|0.4885|0.5619|0.6588|0.628|0.5633|0.6384|0.5267|0.5786|0.6588|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000487214|protein_coding_CDS_not_defined||4/6|ENST00000487214.1:n.555+329T>C|||||||rs13303106||-1||SNV|HGNC|HGNC:24517||||3||||||||||||||0.4541|0.1051|0.4424|0.626|0.6332|0.5726||||||||||0.4942|0.1869|0.5132|0.4885|0.5619|0.6588|0.628|0.5633|0.6384|0.5267|0.5786|0.6588|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,4:0.572:6:1,1:0,2:2,3:0,2,2,2 -chr1 956565 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C4|2%2C5;DP=13;ECNT=1;GERMQ=35;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=57;POPAF=7.3;TLOD=23.44;SRC=custom;GRP=custom;CSQ=G|intron_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||4/18|ENST00000327044.7:c.486+329T>C|||||||rs13303106||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||0.4541|0.1051|0.4424|0.626|0.6332|0.5726||||||||||0.4942|0.1869|0.5132|0.4885|0.5619|0.6588|0.628|0.5633|0.6384|0.5267|0.5786|0.6588|gnomADg_EAS|||||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,G|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding||||||||||rs13303106|4019|1||SNV|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0||||||||0.4541|0.1051|0.4424|0.626|0.6332|0.5726||||||||||0.4942|0.1869|0.5132|0.4885|0.5619|0.6588|0.628|0.5633|0.6384|0.5267|0.5786|0.6588|gnomADg_EAS|||||||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,G|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000463212|retained_intron||||||||||rs13303106|4884|1||SNV|HGNC|HGNC:24023||||1||||||||||||||0.4541|0.1051|0.4424|0.626|0.6332|0.5726||||||||||0.4942|0.1869|0.5132|0.4885|0.5619|0.6588|0.628|0.5633|0.6384|0.5267|0.5786|0.6588|gnomADg_EAS|||||||||||||,G|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000469563|retained_intron||||||||||rs13303106|1681|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||0.4541|0.1051|0.4424|0.626|0.6332|0.5726||||||||||0.4942|0.1869|0.5132|0.4885|0.5619|0.6588|0.628|0.5633|0.6384|0.5267|0.5786|0.6588|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron||2/16|ENST00000477976.5:n.1492+329T>C|||||||rs13303106||-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.4541|0.1051|0.4424|0.626|0.6332|0.5726||||||||||0.4942|0.1869|0.5132|0.4885|0.5619|0.6588|0.628|0.5633|0.6384|0.5267|0.5786|0.6588|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000487214|protein_coding_CDS_not_defined||4/6|ENST00000487214.1:n.555+329T>C|||||||rs13303106||-1||SNV|HGNC|HGNC:24517||||3||||||||||||||0.4541|0.1051|0.4424|0.626|0.6332|0.5726||||||||||0.4942|0.1869|0.5132|0.4885|0.5619|0.6588|0.628|0.5633|0.6384|0.5267|0.5786|0.6588|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,7:0.545:13:2,1:2,2:4,5:2,4,2,5 -chr1 957133 . T A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=11%2C11|1%2C1;DP=27;ECNT=1;GERMQ=76;MBQ=33,31;MFRL=0,0;MMQ=42,60;MPOS=138;POPAF=7.3;TLOD=4.37;SRC=custom;GRP=custom;CSQ=A|missense_variant|MODERATE|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding|3/19||ENST00000327044.7:c.320A>T|ENSP00000317992.6:p.Glu107Val|336|320|107|E/V|gAg/gTg|COSV58530823||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C|||deleterious(0)|benign(0.146)|||||||||||||||||||||||||||||||||1|1||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,A|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding||||||||||COSV58530823|3451|1||SNV|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0|||||||||||||||||||||||||||||||||||||1|1||||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,A|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000463212|retained_intron||||||||||COSV58530823|4316|1||SNV|HGNC|HGNC:24023||||1|||||||||||||||||||||||||||||||||||||||||||1|1||||||||||,A|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000469563|retained_intron||||||||||COSV58530823|1113|-1||SNV|HGNC|HGNC:24517||||2|||||||||||||||||||||||||||||||||||||||||||1|1||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron|1/17||ENST00000477976.5:n.1326A>T||1326|||||COSV58530823||-1||SNV|HGNC|HGNC:24517||||5|||||||||||||||||||||||||||||||||||||||||||1|1||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000487214|protein_coding_CDS_not_defined|3/7||ENST00000487214.1:n.389A>T||389|||||COSV58530823||-1||SNV|HGNC|HGNC:24517||||3|||||||||||||||||||||||||||||||||||||||||||1|1|||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:22,2:0.086:24:8,0:11,1:20,1:11,11,1,1 -chr1 957365 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|6%2C6;DP=12;ECNT=1;GERMQ=75;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=82;POPAF=7.3;TLOD=42.72;SRC=custom;GRP=custom;CSQ=A|intron_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||2/18|ENST00000327044.7:c.180-92C>T|||||||rs13303227||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||0.9207|0.9002|0.9179|0.9206|0.9533|0.9172||||||||||0.933|0.9051|0.9638|0.9328|0.9274|0.9246|0.9648|0.9304|0.9464|0.9335|0.9218|0.9648|gnomADg_FIN|||||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,A|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding||||||||||rs13303227|3219|1||SNV|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0||||||||0.9207|0.9002|0.9179|0.9206|0.9533|0.9172||||||||||0.933|0.9051|0.9638|0.9328|0.9274|0.9246|0.9648|0.9304|0.9464|0.9335|0.9218|0.9648|gnomADg_FIN|||||||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,A|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000463212|retained_intron||||||||||rs13303227|4084|1||SNV|HGNC|HGNC:24023||||1||||||||||||||0.9207|0.9002|0.9179|0.9206|0.9533|0.9172||||||||||0.933|0.9051|0.9638|0.9328|0.9274|0.9246|0.9648|0.9304|0.9464|0.9335|0.9218|0.9648|gnomADg_FIN|||||||||||||,A|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000469563|retained_intron||||||||||rs13303227|881|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||0.9207|0.9002|0.9179|0.9206|0.9533|0.9172||||||||||0.933|0.9051|0.9638|0.9328|0.9274|0.9246|0.9648|0.9304|0.9464|0.9335|0.9218|0.9648|gnomADg_FIN|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron|1/17||ENST00000477976.5:n.1094C>T||1094|||||rs13303227||-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.9207|0.9002|0.9179|0.9206|0.9533|0.9172||||||||||0.933|0.9051|0.9638|0.9328|0.9274|0.9246|0.9648|0.9304|0.9464|0.9335|0.9218|0.9648|gnomADg_FIN|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000487214|protein_coding_CDS_not_defined||2/6|ENST00000487214.1:n.249-92C>T|||||||rs13303227||-1||SNV|HGNC|HGNC:24517||||3||||||||||||||0.9207|0.9002|0.9179|0.9206|0.9533|0.9172||||||||||0.933|0.9051|0.9638|0.9328|0.9274|0.9246|0.9648|0.9304|0.9464|0.9335|0.9218|0.9648|gnomADg_FIN||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,12:0.889:12:0,1:0,6:0,7:0,0,6,6 -chr1 957365 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C1;DP=4;ECNT=1;GERMQ=50;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=55;POPAF=7.3;TLOD=10.85;SRC=custom;GRP=custom;CSQ=A|intron_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||2/18|ENST00000327044.7:c.180-92C>T|||||||rs13303227||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||0.9207|0.9002|0.9179|0.9206|0.9533|0.9172||||||||||0.933|0.9051|0.9638|0.9328|0.9274|0.9246|0.9648|0.9304|0.9464|0.9335|0.9218|0.9648|gnomADg_FIN|||||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,A|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding||||||||||rs13303227|3219|1||SNV|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0||||||||0.9207|0.9002|0.9179|0.9206|0.9533|0.9172||||||||||0.933|0.9051|0.9638|0.9328|0.9274|0.9246|0.9648|0.9304|0.9464|0.9335|0.9218|0.9648|gnomADg_FIN|||||||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,A|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000463212|retained_intron||||||||||rs13303227|4084|1||SNV|HGNC|HGNC:24023||||1||||||||||||||0.9207|0.9002|0.9179|0.9206|0.9533|0.9172||||||||||0.933|0.9051|0.9638|0.9328|0.9274|0.9246|0.9648|0.9304|0.9464|0.9335|0.9218|0.9648|gnomADg_FIN|||||||||||||,A|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000469563|retained_intron||||||||||rs13303227|881|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||0.9207|0.9002|0.9179|0.9206|0.9533|0.9172||||||||||0.933|0.9051|0.9638|0.9328|0.9274|0.9246|0.9648|0.9304|0.9464|0.9335|0.9218|0.9648|gnomADg_FIN|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron|1/17||ENST00000477976.5:n.1094C>T||1094|||||rs13303227||-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.9207|0.9002|0.9179|0.9206|0.9533|0.9172||||||||||0.933|0.9051|0.9638|0.9328|0.9274|0.9246|0.9648|0.9304|0.9464|0.9335|0.9218|0.9648|gnomADg_FIN|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000487214|protein_coding_CDS_not_defined||2/6|ENST00000487214.1:n.249-92C>T|||||||rs13303227||-1||SNV|HGNC|HGNC:24517||||3||||||||||||||0.9207|0.9002|0.9179|0.9206|0.9533|0.9172||||||||||0.933|0.9051|0.9638|0.9328|0.9274|0.9246|0.9648|0.9304|0.9464|0.9335|0.9218|0.9648|gnomADg_FIN||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,0:0,2:0,2:0,0,2,1 -chr1 957900 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|5%2C6;DP=13;ECNT=1;GERMQ=72;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=64;POPAF=7.3;TLOD=39.58;SRC=custom;GRP=custom;CSQ=A|intron_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||2/18|ENST00000327044.7:c.180-627C>T|||||||rs4970371||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||0.9391|0.9667|0.9222|0.9206|0.9543|0.9172||||||||||0.9512|0.9678|0.9637|0.9393|0.9274|0.9252|0.9657|0.9304|0.9469|0.9493|0.9218|0.9678|gnomADg_AFR|||||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,A|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding||||||||||rs4970371|2684|1||SNV|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0||||||||0.9391|0.9667|0.9222|0.9206|0.9543|0.9172||||||||||0.9512|0.9678|0.9637|0.9393|0.9274|0.9252|0.9657|0.9304|0.9469|0.9493|0.9218|0.9678|gnomADg_AFR|||||||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,A|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000463212|retained_intron||||||||||rs4970371|3549|1||SNV|HGNC|HGNC:24023||||1||||||||||||||0.9391|0.9667|0.9222|0.9206|0.9543|0.9172||||||||||0.9512|0.9678|0.9637|0.9393|0.9274|0.9252|0.9657|0.9304|0.9469|0.9493|0.9218|0.9678|gnomADg_AFR|||||||||||||,A|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000466300|nonsense_mediated_decay||||||||||rs4970371|4827|1|cds_start_NF|SNV|HGNC|HGNC:24023||||3|||ENSP00000463694||J3QLT4.45|UPI000268AE1E||||||||0.9391|0.9667|0.9222|0.9206|0.9543|0.9172||||||||||0.9512|0.9678|0.9637|0.9393|0.9274|0.9252|0.9657|0.9304|0.9469|0.9493|0.9218|0.9678|gnomADg_AFR|||||||||||XLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGASPGAWGVAQQWDPLTSPVSTCPPQAAGACLPSTETVRPTTRAPTAGTWWPPCPRAGPGWEWLRWGTGSMLWAAMMGPQTWLPWSPTTP||,A|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000469563|retained_intron||||||||||rs4970371|346|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||0.9391|0.9667|0.9222|0.9206|0.9543|0.9172||||||||||0.9512|0.9678|0.9637|0.9393|0.9274|0.9252|0.9657|0.9304|0.9469|0.9493|0.9218|0.9678|gnomADg_AFR|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron|1/17||ENST00000477976.5:n.559C>T||559|||||rs4970371||-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.9391|0.9667|0.9222|0.9206|0.9543|0.9172||||||||||0.9512|0.9678|0.9637|0.9393|0.9274|0.9252|0.9657|0.9304|0.9469|0.9493|0.9218|0.9678|gnomADg_AFR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000487214|protein_coding_CDS_not_defined||2/6|ENST00000487214.1:n.249-627C>T|||||||rs4970371||-1||SNV|HGNC|HGNC:24517||||3||||||||||||||0.9391|0.9667|0.9222|0.9206|0.9543|0.9172||||||||||0.9512|0.9678|0.9637|0.9393|0.9274|0.9252|0.9657|0.9304|0.9469|0.9493|0.9218|0.9678|gnomADg_AFR|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000111|promoter||||||||||rs4970371||||SNV||||||||||||||||||||0.9391|0.9667|0.9222|0.9206|0.9543|0.9172||||||||||0.9512|0.9678|0.9637|0.9393|0.9274|0.9252|0.9657|0.9304|0.9469|0.9493|0.9218|0.9678|gnomADg_AFR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,11:0.88:11:0,0:0,5:0,6:0,0,5,6 -chr1 957900 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|5%2C4;DP=12;ECNT=1;GERMQ=67;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=78;POPAF=7.3;TLOD=32.39;SRC=custom;GRP=custom;CSQ=A|intron_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||2/18|ENST00000327044.7:c.180-627C>T|||||||rs4970371||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||0.9391|0.9667|0.9222|0.9206|0.9543|0.9172||||||||||0.9512|0.9678|0.9637|0.9393|0.9274|0.9252|0.9657|0.9304|0.9469|0.9493|0.9218|0.9678|gnomADg_AFR|||||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,A|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding||||||||||rs4970371|2684|1||SNV|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0||||||||0.9391|0.9667|0.9222|0.9206|0.9543|0.9172||||||||||0.9512|0.9678|0.9637|0.9393|0.9274|0.9252|0.9657|0.9304|0.9469|0.9493|0.9218|0.9678|gnomADg_AFR|||||||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,A|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000463212|retained_intron||||||||||rs4970371|3549|1||SNV|HGNC|HGNC:24023||||1||||||||||||||0.9391|0.9667|0.9222|0.9206|0.9543|0.9172||||||||||0.9512|0.9678|0.9637|0.9393|0.9274|0.9252|0.9657|0.9304|0.9469|0.9493|0.9218|0.9678|gnomADg_AFR|||||||||||||,A|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000466300|nonsense_mediated_decay||||||||||rs4970371|4827|1|cds_start_NF|SNV|HGNC|HGNC:24023||||3|||ENSP00000463694||J3QLT4.45|UPI000268AE1E||||||||0.9391|0.9667|0.9222|0.9206|0.9543|0.9172||||||||||0.9512|0.9678|0.9637|0.9393|0.9274|0.9252|0.9657|0.9304|0.9469|0.9493|0.9218|0.9678|gnomADg_AFR|||||||||||XLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGASPGAWGVAQQWDPLTSPVSTCPPQAAGACLPSTETVRPTTRAPTAGTWWPPCPRAGPGWEWLRWGTGSMLWAAMMGPQTWLPWSPTTP||,A|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000469563|retained_intron||||||||||rs4970371|346|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||0.9391|0.9667|0.9222|0.9206|0.9543|0.9172||||||||||0.9512|0.9678|0.9637|0.9393|0.9274|0.9252|0.9657|0.9304|0.9469|0.9493|0.9218|0.9678|gnomADg_AFR|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron|1/17||ENST00000477976.5:n.559C>T||559|||||rs4970371||-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.9391|0.9667|0.9222|0.9206|0.9543|0.9172||||||||||0.9512|0.9678|0.9637|0.9393|0.9274|0.9252|0.9657|0.9304|0.9469|0.9493|0.9218|0.9678|gnomADg_AFR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000487214|protein_coding_CDS_not_defined||2/6|ENST00000487214.1:n.249-627C>T|||||||rs4970371||-1||SNV|HGNC|HGNC:24517||||3||||||||||||||0.9391|0.9667|0.9222|0.9206|0.9543|0.9172||||||||||0.9512|0.9678|0.9637|0.9393|0.9274|0.9252|0.9657|0.9304|0.9469|0.9493|0.9218|0.9678|gnomADg_AFR|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000111|promoter||||||||||rs4970371||||SNV||||||||||||||||||||0.9391|0.9667|0.9222|0.9206|0.9543|0.9172||||||||||0.9512|0.9678|0.9637|0.9393|0.9274|0.9252|0.9657|0.9304|0.9469|0.9493|0.9218|0.9678|gnomADg_AFR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,9:0.864:9:0,0:0,5:0,5:0,0,5,4 -chr1 958962 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=8%2C19|1%2C1;DP=29;ECNT=1;GERMQ=88;MBQ=34,34;MFRL=0,0;MMQ=60,60;MPOS=132;POPAF=7.3;TLOD=5.05;SRC=custom;GRP=custom;CSQ=G|missense_variant|MODERATE|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding|2/19||ENST00000327044.7:c.146G>C|ENSP00000317992.6:p.Ser49Thr|162|146|49|S/T|aGt/aCt|||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C|||tolerated(0.37)|benign(0.059)||||||||||||||||||||||||||||||||||||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,G|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding|||||||||||1622|1||SNV|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0||||||||||||||||||||||||||||||||||||||||||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,G|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000463212|retained_intron|||||||||||2487|1||SNV|HGNC|HGNC:24023||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000466300|nonsense_mediated_decay|||||||||||3765|1|cds_start_NF|SNV|HGNC|HGNC:24023||||3|||ENSP00000463694||J3QLT4.45|UPI000268AE1E||||||||||||||||||||||||||||||||||||||||||||||XLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGASPGAWGVAQQWDPLTSPVSTCPPQAAGACLPSTETVRPTTRAPTAGTWWPPCPRAGPGWEWLRWGTGSMLWAAMMGPQTWLPWSPTTP||,G|non_coding_transcript_exon_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000469563|retained_intron|2/2||ENST00000469563.1:n.162G>C||162|||||||-1||SNV|HGNC|HGNC:24517||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron|||||||||||504|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000481067|retained_intron|||||||||||4590|1||SNV|HGNC|HGNC:24023||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000487214|protein_coding_CDS_not_defined|2/7||ENST00000487214.1:n.215G>C||215|||||||-1||SNV|HGNC|HGNC:24517||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000111|promoter||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:27,2:0.083:29:12,0:8,1:21,1:8,19,1,1 -chr1 959193 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=1;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=14;POPAF=7.3;TLOD=10.63;SRC=custom;GRP=custom;CSQ=A|intron_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||1/18|ENST00000327044.7:c.26+22C>T|||||||rs13303010||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||0.6344|0.1634|0.6974|0.7083|0.9016|0.8753|0.8198|0.2474|0.7665|0.8776|0.7319|0.9013|0.8971|0.8383|0.8675|0.7019|0.2655|0.859|0.7344|0.8755|0.7332|0.9019|0.8165|0.9017|0.7541|0.8654|0.9019|gnomADg_FIN|||1|29422604&32581250&30192808&32321713&33879152&35761384&35506247&26053627&32389710&37346070&36005174&35238112&32958499|||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,A|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding||||||||||rs13303010|1391|1||SNV|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0||||||||0.6344|0.1634|0.6974|0.7083|0.9016|0.8753|0.8198|0.2474|0.7665|0.8776|0.7319|0.9013|0.8971|0.8383|0.8675|0.7019|0.2655|0.859|0.7344|0.8755|0.7332|0.9019|0.8165|0.9017|0.7541|0.8654|0.9019|gnomADg_FIN|||1|29422604&32581250&30192808&32321713&33879152&35761384&35506247&26053627&32389710&37346070&36005174&35238112&32958499|||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,A|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000463212|retained_intron||||||||||rs13303010|2256|1||SNV|HGNC|HGNC:24023||||1||||||||||||||0.6344|0.1634|0.6974|0.7083|0.9016|0.8753|0.8198|0.2474|0.7665|0.8776|0.7319|0.9013|0.8971|0.8383|0.8675|0.7019|0.2655|0.859|0.7344|0.8755|0.7332|0.9019|0.8165|0.9017|0.7541|0.8654|0.9019|gnomADg_FIN|||1|29422604&32581250&30192808&32321713&33879152&35761384&35506247&26053627&32389710&37346070&36005174&35238112&32958499|||||||||,A|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000466300|nonsense_mediated_decay||||||||||rs13303010|3534|1|cds_start_NF|SNV|HGNC|HGNC:24023||||3|||ENSP00000463694||J3QLT4.45|UPI000268AE1E||||||||0.6344|0.1634|0.6974|0.7083|0.9016|0.8753|0.8198|0.2474|0.7665|0.8776|0.7319|0.9013|0.8971|0.8383|0.8675|0.7019|0.2655|0.859|0.7344|0.8755|0.7332|0.9019|0.8165|0.9017|0.7541|0.8654|0.9019|gnomADg_FIN|||1|29422604&32581250&30192808&32321713&33879152&35761384&35506247&26053627&32389710&37346070&36005174&35238112&32958499|||||||XLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGASPGAWGVAQQWDPLTSPVSTCPPQAAGACLPSTETVRPTTRAPTAGTWWPPCPRAGPGWEWLRWGTGSMLWAAMMGPQTWLPWSPTTP||,A|intron_variant&non_coding_transcript_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000469563|retained_intron||1/1|ENST00000469563.1:n.42+22C>T|||||||rs13303010||-1||SNV|HGNC|HGNC:24517||||2||||||||||||||0.6344|0.1634|0.6974|0.7083|0.9016|0.8753|0.8198|0.2474|0.7665|0.8776|0.7319|0.9013|0.8971|0.8383|0.8675|0.7019|0.2655|0.859|0.7344|0.8755|0.7332|0.9019|0.8165|0.9017|0.7541|0.8654|0.9019|gnomADg_FIN|||1|29422604&32581250&30192808&32321713&33879152&35761384&35506247&26053627&32389710&37346070&36005174&35238112&32958499|||||||||,A|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron||||||||||rs13303010|735|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.6344|0.1634|0.6974|0.7083|0.9016|0.8753|0.8198|0.2474|0.7665|0.8776|0.7319|0.9013|0.8971|0.8383|0.8675|0.7019|0.2655|0.859|0.7344|0.8755|0.7332|0.9019|0.8165|0.9017|0.7541|0.8654|0.9019|gnomADg_FIN|||1|29422604&32581250&30192808&32321713&33879152&35761384&35506247&26053627&32389710&37346070&36005174&35238112&32958499|||||||||,A|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000481067|retained_intron||||||||||rs13303010|4359|1||SNV|HGNC|HGNC:24023||||2||||||||||||||0.6344|0.1634|0.6974|0.7083|0.9016|0.8753|0.8198|0.2474|0.7665|0.8776|0.7319|0.9013|0.8971|0.8383|0.8675|0.7019|0.2655|0.859|0.7344|0.8755|0.7332|0.9019|0.8165|0.9017|0.7541|0.8654|0.9019|gnomADg_FIN|||1|29422604&32581250&30192808&32321713&33879152&35761384&35506247&26053627&32389710&37346070&36005174&35238112&32958499|||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000487214|protein_coding_CDS_not_defined||1/6|ENST00000487214.1:n.95+22C>T|||||||rs13303010||-1||SNV|HGNC|HGNC:24517||||3||||||||||||||0.6344|0.1634|0.6974|0.7083|0.9016|0.8753|0.8198|0.2474|0.7665|0.8776|0.7319|0.9013|0.8971|0.8383|0.8675|0.7019|0.2655|0.859|0.7344|0.8755|0.7332|0.9019|0.8165|0.9017|0.7541|0.8654|0.9019|gnomADg_FIN|||1|29422604&32581250&30192808&32321713&33879152&35761384&35506247&26053627&32389710&37346070&36005174&35238112&32958499|||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000111|promoter||||||||||rs13303010||||SNV||||||||||||||||||||0.6344|0.1634|0.6974|0.7083|0.9016|0.8753|0.8198|0.2474|0.7665|0.8776|0.7319|0.9013|0.8971|0.8383|0.8675|0.7019|0.2655|0.859|0.7344|0.8755|0.7332|0.9019|0.8165|0.9017|0.7541|0.8654|0.9019|gnomADg_FIN|||1|29422604&32581250&30192808&32321713&33879152&35761384&35506247&26053627&32389710&37346070&36005174&35238112&32958499||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,0:0,1:0,2:0,0,1,2 -chr1 959193 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=1;GERMQ=50;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=21;POPAF=7.3;TLOD=10.75;SRC=custom;GRP=custom;CSQ=A|intron_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||1/18|ENST00000327044.7:c.26+22C>T|||||||rs13303010||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||0.6344|0.1634|0.6974|0.7083|0.9016|0.8753|0.8198|0.2474|0.7665|0.8776|0.7319|0.9013|0.8971|0.8383|0.8675|0.7019|0.2655|0.859|0.7344|0.8755|0.7332|0.9019|0.8165|0.9017|0.7541|0.8654|0.9019|gnomADg_FIN|||1|29422604&32581250&30192808&32321713&33879152&35761384&35506247&26053627&32389710&37346070&36005174&35238112&32958499|||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,A|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding||||||||||rs13303010|1391|1||SNV|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0||||||||0.6344|0.1634|0.6974|0.7083|0.9016|0.8753|0.8198|0.2474|0.7665|0.8776|0.7319|0.9013|0.8971|0.8383|0.8675|0.7019|0.2655|0.859|0.7344|0.8755|0.7332|0.9019|0.8165|0.9017|0.7541|0.8654|0.9019|gnomADg_FIN|||1|29422604&32581250&30192808&32321713&33879152&35761384&35506247&26053627&32389710&37346070&36005174&35238112&32958499|||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,A|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000463212|retained_intron||||||||||rs13303010|2256|1||SNV|HGNC|HGNC:24023||||1||||||||||||||0.6344|0.1634|0.6974|0.7083|0.9016|0.8753|0.8198|0.2474|0.7665|0.8776|0.7319|0.9013|0.8971|0.8383|0.8675|0.7019|0.2655|0.859|0.7344|0.8755|0.7332|0.9019|0.8165|0.9017|0.7541|0.8654|0.9019|gnomADg_FIN|||1|29422604&32581250&30192808&32321713&33879152&35761384&35506247&26053627&32389710&37346070&36005174&35238112&32958499|||||||||,A|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000466300|nonsense_mediated_decay||||||||||rs13303010|3534|1|cds_start_NF|SNV|HGNC|HGNC:24023||||3|||ENSP00000463694||J3QLT4.45|UPI000268AE1E||||||||0.6344|0.1634|0.6974|0.7083|0.9016|0.8753|0.8198|0.2474|0.7665|0.8776|0.7319|0.9013|0.8971|0.8383|0.8675|0.7019|0.2655|0.859|0.7344|0.8755|0.7332|0.9019|0.8165|0.9017|0.7541|0.8654|0.9019|gnomADg_FIN|||1|29422604&32581250&30192808&32321713&33879152&35761384&35506247&26053627&32389710&37346070&36005174&35238112&32958499|||||||XLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGASPGAWGVAQQWDPLTSPVSTCPPQAAGACLPSTETVRPTTRAPTAGTWWPPCPRAGPGWEWLRWGTGSMLWAAMMGPQTWLPWSPTTP||,A|intron_variant&non_coding_transcript_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000469563|retained_intron||1/1|ENST00000469563.1:n.42+22C>T|||||||rs13303010||-1||SNV|HGNC|HGNC:24517||||2||||||||||||||0.6344|0.1634|0.6974|0.7083|0.9016|0.8753|0.8198|0.2474|0.7665|0.8776|0.7319|0.9013|0.8971|0.8383|0.8675|0.7019|0.2655|0.859|0.7344|0.8755|0.7332|0.9019|0.8165|0.9017|0.7541|0.8654|0.9019|gnomADg_FIN|||1|29422604&32581250&30192808&32321713&33879152&35761384&35506247&26053627&32389710&37346070&36005174&35238112&32958499|||||||||,A|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron||||||||||rs13303010|735|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.6344|0.1634|0.6974|0.7083|0.9016|0.8753|0.8198|0.2474|0.7665|0.8776|0.7319|0.9013|0.8971|0.8383|0.8675|0.7019|0.2655|0.859|0.7344|0.8755|0.7332|0.9019|0.8165|0.9017|0.7541|0.8654|0.9019|gnomADg_FIN|||1|29422604&32581250&30192808&32321713&33879152&35761384&35506247&26053627&32389710&37346070&36005174&35238112&32958499|||||||||,A|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000481067|retained_intron||||||||||rs13303010|4359|1||SNV|HGNC|HGNC:24023||||2||||||||||||||0.6344|0.1634|0.6974|0.7083|0.9016|0.8753|0.8198|0.2474|0.7665|0.8776|0.7319|0.9013|0.8971|0.8383|0.8675|0.7019|0.2655|0.859|0.7344|0.8755|0.7332|0.9019|0.8165|0.9017|0.7541|0.8654|0.9019|gnomADg_FIN|||1|29422604&32581250&30192808&32321713&33879152&35761384&35506247&26053627&32389710&37346070&36005174&35238112&32958499|||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000487214|protein_coding_CDS_not_defined||1/6|ENST00000487214.1:n.95+22C>T|||||||rs13303010||-1||SNV|HGNC|HGNC:24517||||3||||||||||||||0.6344|0.1634|0.6974|0.7083|0.9016|0.8753|0.8198|0.2474|0.7665|0.8776|0.7319|0.9013|0.8971|0.8383|0.8675|0.7019|0.2655|0.859|0.7344|0.8755|0.7332|0.9019|0.8165|0.9017|0.7541|0.8654|0.9019|gnomADg_FIN|||1|29422604&32581250&30192808&32321713&33879152&35761384&35506247&26053627&32389710&37346070&36005174&35238112&32958499|||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000111|promoter||||||||||rs13303010||||SNV||||||||||||||||||||0.6344|0.1634|0.6974|0.7083|0.9016|0.8753|0.8198|0.2474|0.7665|0.8776|0.7319|0.9013|0.8971|0.8383|0.8675|0.7019|0.2655|0.859|0.7344|0.8755|0.7332|0.9019|0.8165|0.9017|0.7541|0.8654|0.9019|gnomADg_FIN|||1|29422604&32581250&30192808&32321713&33879152&35761384&35506247&26053627&32389710&37346070&36005174&35238112&32958499||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,0:0,1:0,2:0,0,1,2 -chr1 959982 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C1|1%2C1;DP=3;ECNT=1;GERMQ=38;MBQ=33,20;MFRL=0,0;MMQ=60,60;MPOS=100;POPAF=7.3;TLOD=3.55;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding|||||||||||726|-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||||||||||||||||||||||||||||||||||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,A|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding|||||||||||602|1||SNV|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0||||||||||||||||||||||||||||||||||||||||||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,A|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000463212|retained_intron|||||||||||1467|1||SNV|HGNC|HGNC:24023||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000466300|nonsense_mediated_decay|||||||||||2745|1|cds_start_NF|SNV|HGNC|HGNC:24023||||3|||ENSP00000463694||J3QLT4.45|UPI000268AE1E||||||||||||||||||||||||||||||||||||||||||||||XLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGASPGAWGVAQQWDPLTSPVSTCPPQAAGACLPSTETVRPTTRAPTAGTWWPPCPRAGPGWEWLRWGTGSMLWAAMMGPQTWLPWSPTTP||,A|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000469563|retained_intron|||||||||||726|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron|||||||||||1524|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000481067|retained_intron|||||||||||3570|1||SNV|HGNC|HGNC:24023||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000487214|protein_coding_CDS_not_defined|||||||||||673|-1||SNV|HGNC|HGNC:24517||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000111|promoter||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,2:0.5:3:1,0:0,0:1,1:0,1,1,1 -chr1 960681 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5%2C6|1%2C1;DP=15;ECNT=1;GERMQ=50;MBQ=34,34;MFRL=0,0;MMQ=60,60;MPOS=118;POPAF=7.3;TLOD=5.88;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||||||||||rs1405959874|1425|-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||||||||1.778e-05|0|0|0.0001896|0|0|0|0|0||||||||||||0.0001896|gnomADe_ASJ|||||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,A|5_prime_UTR_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding|1/12||ENST00000338591.8:c.-13G>A||98|||||rs1405959874||1||SNV|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0||||||||||||||1.778e-05|0|0|0.0001896|0|0|0|0|0||||||||||||0.0001896|gnomADe_ASJ|||||||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,A|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000463212|retained_intron||||||||||rs1405959874|768|1||SNV|HGNC|HGNC:24023||||1||||||||||||||||||||1.778e-05|0|0|0.0001896|0|0|0|0|0||||||||||||0.0001896|gnomADe_ASJ|||||||||||||,A|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000466300|nonsense_mediated_decay||||||||||rs1405959874|2046|1|cds_start_NF|SNV|HGNC|HGNC:24023||||3|||ENSP00000463694||J3QLT4.45|UPI000268AE1E||||||||||||||1.778e-05|0|0|0.0001896|0|0|0|0|0||||||||||||0.0001896|gnomADe_ASJ|||||||||||XLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGASPGAWGVAQQWDPLTSPVSTCPPQAAGACLPSTETVRPTTRAPTAGTWWPPCPRAGPGWEWLRWGTGSMLWAAMMGPQTWLPWSPTTP||,A|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000469563|retained_intron||||||||||rs1405959874|1425|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||||||||1.778e-05|0|0|0.0001896|0|0|0|0|0||||||||||||0.0001896|gnomADe_ASJ|||||||||||||,A|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron||||||||||rs1405959874|2223|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||||||||1.778e-05|0|0|0.0001896|0|0|0|0|0||||||||||||0.0001896|gnomADe_ASJ|||||||||||||,A|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000481067|retained_intron||||||||||rs1405959874|2871|1||SNV|HGNC|HGNC:24023||||2||||||||||||||||||||1.778e-05|0|0|0.0001896|0|0|0|0|0||||||||||||0.0001896|gnomADe_ASJ|||||||||||||,A|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000487214|protein_coding_CDS_not_defined||||||||||rs1405959874|1372|-1||SNV|HGNC|HGNC:24517||||3||||||||||||||||||||1.778e-05|0|0|0.0001896|0|0|0|0|0||||||||||||0.0001896|gnomADe_ASJ|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000111|promoter||||||||||rs1405959874||||SNV||||||||||||||||||||||||||1.778e-05|0|0|0.0001896|0|0|0|0|0||||||||||||0.0001896|gnomADe_ASJ||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:11,2:0.219:13:1,0:5,1:6,1:5,6,1,1 -chr1 960891 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=1;GERMQ=49;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=98;POPAF=7.3;TLOD=10.55;SRC=custom;GRP=custom;CSQ=T|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||||||||||rs112905931|1635|-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||0.3778|0.0363|0.4971|0.3611|0.6262|0.5164||||||||||0.4582|0.1194|0.4867|0.5309|0.5407|0.3829|0.595|0.5355|0.6233|0.4908|0.5334|0.6262|EUR|||1|33972514|||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,T|intron_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding||1/11|ENST00000338591.8:c.107+91C>T|||||||rs112905931||1||SNV|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0||||||||0.3778|0.0363|0.4971|0.3611|0.6262|0.5164||||||||||0.4582|0.1194|0.4867|0.5309|0.5407|0.3829|0.595|0.5355|0.6233|0.4908|0.5334|0.6262|EUR|||1|33972514|||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,T|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000463212|retained_intron||||||||||rs112905931|558|1||SNV|HGNC|HGNC:24023||||1||||||||||||||0.3778|0.0363|0.4971|0.3611|0.6262|0.5164||||||||||0.4582|0.1194|0.4867|0.5309|0.5407|0.3829|0.595|0.5355|0.6233|0.4908|0.5334|0.6262|EUR|||1|33972514|||||||||,T|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000466300|nonsense_mediated_decay||||||||||rs112905931|1836|1|cds_start_NF|SNV|HGNC|HGNC:24023||||3|||ENSP00000463694||J3QLT4.45|UPI000268AE1E||||||||0.3778|0.0363|0.4971|0.3611|0.6262|0.5164||||||||||0.4582|0.1194|0.4867|0.5309|0.5407|0.3829|0.595|0.5355|0.6233|0.4908|0.5334|0.6262|EUR|||1|33972514|||||||XLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGASPGAWGVAQQWDPLTSPVSTCPPQAAGACLPSTETVRPTTRAPTAGTWWPPCPRAGPGWEWLRWGTGSMLWAAMMGPQTWLPWSPTTP||,T|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000469563|retained_intron||||||||||rs112905931|1635|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||0.3778|0.0363|0.4971|0.3611|0.6262|0.5164||||||||||0.4582|0.1194|0.4867|0.5309|0.5407|0.3829|0.595|0.5355|0.6233|0.4908|0.5334|0.6262|EUR|||1|33972514|||||||||,T|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron||||||||||rs112905931|2433|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.3778|0.0363|0.4971|0.3611|0.6262|0.5164||||||||||0.4582|0.1194|0.4867|0.5309|0.5407|0.3829|0.595|0.5355|0.6233|0.4908|0.5334|0.6262|EUR|||1|33972514|||||||||,T|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000481067|retained_intron||||||||||rs112905931|2661|1||SNV|HGNC|HGNC:24023||||2||||||||||||||0.3778|0.0363|0.4971|0.3611|0.6262|0.5164||||||||||0.4582|0.1194|0.4867|0.5309|0.5407|0.3829|0.595|0.5355|0.6233|0.4908|0.5334|0.6262|EUR|||1|33972514|||||||||,T|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000487214|protein_coding_CDS_not_defined||||||||||rs112905931|1582|-1||SNV|HGNC|HGNC:24517||||3||||||||||||||0.3778|0.0363|0.4971|0.3611|0.6262|0.5164||||||||||0.4582|0.1194|0.4867|0.5309|0.5407|0.3829|0.595|0.5355|0.6233|0.4908|0.5334|0.6262|EUR|||1|33972514|||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000111|promoter||||||||||rs112905931||||SNV||||||||||||||||||||0.3778|0.0363|0.4971|0.3611|0.6262|0.5164||||||||||0.4582|0.1194|0.4867|0.5309|0.5407|0.3829|0.595|0.5355|0.6233|0.4908|0.5334|0.6262|EUR|||1|33972514||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,1:0,1:0,2:0,0,1,2 -chr1 960891 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=62;POPAF=7.3;TLOD=7.25;SRC=custom;GRP=custom;CSQ=T|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||||||||||rs112905931|1635|-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||0.3778|0.0363|0.4971|0.3611|0.6262|0.5164||||||||||0.4582|0.1194|0.4867|0.5309|0.5407|0.3829|0.595|0.5355|0.6233|0.4908|0.5334|0.6262|EUR|||1|33972514|||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,T|intron_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding||1/11|ENST00000338591.8:c.107+91C>T|||||||rs112905931||1||SNV|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0||||||||0.3778|0.0363|0.4971|0.3611|0.6262|0.5164||||||||||0.4582|0.1194|0.4867|0.5309|0.5407|0.3829|0.595|0.5355|0.6233|0.4908|0.5334|0.6262|EUR|||1|33972514|||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,T|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000463212|retained_intron||||||||||rs112905931|558|1||SNV|HGNC|HGNC:24023||||1||||||||||||||0.3778|0.0363|0.4971|0.3611|0.6262|0.5164||||||||||0.4582|0.1194|0.4867|0.5309|0.5407|0.3829|0.595|0.5355|0.6233|0.4908|0.5334|0.6262|EUR|||1|33972514|||||||||,T|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000466300|nonsense_mediated_decay||||||||||rs112905931|1836|1|cds_start_NF|SNV|HGNC|HGNC:24023||||3|||ENSP00000463694||J3QLT4.45|UPI000268AE1E||||||||0.3778|0.0363|0.4971|0.3611|0.6262|0.5164||||||||||0.4582|0.1194|0.4867|0.5309|0.5407|0.3829|0.595|0.5355|0.6233|0.4908|0.5334|0.6262|EUR|||1|33972514|||||||XLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGASPGAWGVAQQWDPLTSPVSTCPPQAAGACLPSTETVRPTTRAPTAGTWWPPCPRAGPGWEWLRWGTGSMLWAAMMGPQTWLPWSPTTP||,T|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000469563|retained_intron||||||||||rs112905931|1635|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||0.3778|0.0363|0.4971|0.3611|0.6262|0.5164||||||||||0.4582|0.1194|0.4867|0.5309|0.5407|0.3829|0.595|0.5355|0.6233|0.4908|0.5334|0.6262|EUR|||1|33972514|||||||||,T|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron||||||||||rs112905931|2433|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.3778|0.0363|0.4971|0.3611|0.6262|0.5164||||||||||0.4582|0.1194|0.4867|0.5309|0.5407|0.3829|0.595|0.5355|0.6233|0.4908|0.5334|0.6262|EUR|||1|33972514|||||||||,T|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000481067|retained_intron||||||||||rs112905931|2661|1||SNV|HGNC|HGNC:24023||||2||||||||||||||0.3778|0.0363|0.4971|0.3611|0.6262|0.5164||||||||||0.4582|0.1194|0.4867|0.5309|0.5407|0.3829|0.595|0.5355|0.6233|0.4908|0.5334|0.6262|EUR|||1|33972514|||||||||,T|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000487214|protein_coding_CDS_not_defined||||||||||rs112905931|1582|-1||SNV|HGNC|HGNC:24517||||3||||||||||||||0.3778|0.0363|0.4971|0.3611|0.6262|0.5164||||||||||0.4582|0.1194|0.4867|0.5309|0.5407|0.3829|0.595|0.5355|0.6233|0.4908|0.5334|0.6262|EUR|||1|33972514|||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000111|promoter||||||||||rs112905931||||SNV||||||||||||||||||||0.3778|0.0363|0.4971|0.3611|0.6262|0.5164||||||||||0.4582|0.1194|0.4867|0.5309|0.5407|0.3829|0.595|0.5355|0.6233|0.4908|0.5334|0.6262|EUR|||1|33972514||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 961096 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C4;DP=8;ECNT=1;GERMQ=60;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=87;POPAF=7.3;TLOD=24.13;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||||||||||rs28393498|1840|-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||0.9221|0.9024|0.9179|0.9256|0.9523|0.9172||||||||||0.9341|0.9068|0.9638|0.933|0.9278|0.9263|0.9655|0.9299|0.9476|0.9351|0.9221|0.9655|gnomADg_FIN|||||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,G|intron_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding||1/11|ENST00000338591.8:c.108-197A>G|||||||rs28393498||1||SNV|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0||||||||0.9221|0.9024|0.9179|0.9256|0.9523|0.9172||||||||||0.9341|0.9068|0.9638|0.933|0.9278|0.9263|0.9655|0.9299|0.9476|0.9351|0.9221|0.9655|gnomADg_FIN|||||||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,G|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000463212|retained_intron||||||||||rs28393498|353|1||SNV|HGNC|HGNC:24023||||1||||||||||||||0.9221|0.9024|0.9179|0.9256|0.9523|0.9172||||||||||0.9341|0.9068|0.9638|0.933|0.9278|0.9263|0.9655|0.9299|0.9476|0.9351|0.9221|0.9655|gnomADg_FIN|||||||||||||,G|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000466300|nonsense_mediated_decay||||||||||rs28393498|1631|1|cds_start_NF|SNV|HGNC|HGNC:24023||||3|||ENSP00000463694||J3QLT4.45|UPI000268AE1E||||||||0.9221|0.9024|0.9179|0.9256|0.9523|0.9172||||||||||0.9341|0.9068|0.9638|0.933|0.9278|0.9263|0.9655|0.9299|0.9476|0.9351|0.9221|0.9655|gnomADg_FIN|||||||||||XLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGASPGAWGVAQQWDPLTSPVSTCPPQAAGACLPSTETVRPTTRAPTAGTWWPPCPRAGPGWEWLRWGTGSMLWAAMMGPQTWLPWSPTTP||,G|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000469563|retained_intron||||||||||rs28393498|1840|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||0.9221|0.9024|0.9179|0.9256|0.9523|0.9172||||||||||0.9341|0.9068|0.9638|0.933|0.9278|0.9263|0.9655|0.9299|0.9476|0.9351|0.9221|0.9655|gnomADg_FIN|||||||||||||,G|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron||||||||||rs28393498|2638|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.9221|0.9024|0.9179|0.9256|0.9523|0.9172||||||||||0.9341|0.9068|0.9638|0.933|0.9278|0.9263|0.9655|0.9299|0.9476|0.9351|0.9221|0.9655|gnomADg_FIN|||||||||||||,G|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000481067|retained_intron||||||||||rs28393498|2456|1||SNV|HGNC|HGNC:24023||||2||||||||||||||0.9221|0.9024|0.9179|0.9256|0.9523|0.9172||||||||||0.9341|0.9068|0.9638|0.933|0.9278|0.9263|0.9655|0.9299|0.9476|0.9351|0.9221|0.9655|gnomADg_FIN|||||||||||||,G|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000487214|protein_coding_CDS_not_defined||||||||||rs28393498|1787|-1||SNV|HGNC|HGNC:24517||||3||||||||||||||0.9221|0.9024|0.9179|0.9256|0.9523|0.9172||||||||||0.9341|0.9068|0.9638|0.933|0.9278|0.9263|0.9655|0.9299|0.9476|0.9351|0.9221|0.9655|gnomADg_FIN|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000111|promoter||||||||||rs28393498||||SNV||||||||||||||||||||0.9221|0.9024|0.9179|0.9256|0.9523|0.9172||||||||||0.9341|0.9068|0.9638|0.933|0.9278|0.9263|0.9655|0.9299|0.9476|0.9351|0.9221|0.9655|gnomADg_FIN||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,7:0.864:7:0,1:0,3:0,5:0,0,3,4 -chr1 961096 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=5;ECNT=1;GERMQ=52;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=67;POPAF=7.3;TLOD=14.58;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||||||||||rs28393498|1840|-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||0.9221|0.9024|0.9179|0.9256|0.9523|0.9172||||||||||0.9341|0.9068|0.9638|0.933|0.9278|0.9263|0.9655|0.9299|0.9476|0.9351|0.9221|0.9655|gnomADg_FIN|||||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,G|intron_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding||1/11|ENST00000338591.8:c.108-197A>G|||||||rs28393498||1||SNV|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0||||||||0.9221|0.9024|0.9179|0.9256|0.9523|0.9172||||||||||0.9341|0.9068|0.9638|0.933|0.9278|0.9263|0.9655|0.9299|0.9476|0.9351|0.9221|0.9655|gnomADg_FIN|||||||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,G|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000463212|retained_intron||||||||||rs28393498|353|1||SNV|HGNC|HGNC:24023||||1||||||||||||||0.9221|0.9024|0.9179|0.9256|0.9523|0.9172||||||||||0.9341|0.9068|0.9638|0.933|0.9278|0.9263|0.9655|0.9299|0.9476|0.9351|0.9221|0.9655|gnomADg_FIN|||||||||||||,G|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000466300|nonsense_mediated_decay||||||||||rs28393498|1631|1|cds_start_NF|SNV|HGNC|HGNC:24023||||3|||ENSP00000463694||J3QLT4.45|UPI000268AE1E||||||||0.9221|0.9024|0.9179|0.9256|0.9523|0.9172||||||||||0.9341|0.9068|0.9638|0.933|0.9278|0.9263|0.9655|0.9299|0.9476|0.9351|0.9221|0.9655|gnomADg_FIN|||||||||||XLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGASPGAWGVAQQWDPLTSPVSTCPPQAAGACLPSTETVRPTTRAPTAGTWWPPCPRAGPGWEWLRWGTGSMLWAAMMGPQTWLPWSPTTP||,G|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000469563|retained_intron||||||||||rs28393498|1840|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||0.9221|0.9024|0.9179|0.9256|0.9523|0.9172||||||||||0.9341|0.9068|0.9638|0.933|0.9278|0.9263|0.9655|0.9299|0.9476|0.9351|0.9221|0.9655|gnomADg_FIN|||||||||||||,G|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron||||||||||rs28393498|2638|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.9221|0.9024|0.9179|0.9256|0.9523|0.9172||||||||||0.9341|0.9068|0.9638|0.933|0.9278|0.9263|0.9655|0.9299|0.9476|0.9351|0.9221|0.9655|gnomADg_FIN|||||||||||||,G|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000481067|retained_intron||||||||||rs28393498|2456|1||SNV|HGNC|HGNC:24023||||2||||||||||||||0.9221|0.9024|0.9179|0.9256|0.9523|0.9172||||||||||0.9341|0.9068|0.9638|0.933|0.9278|0.9263|0.9655|0.9299|0.9476|0.9351|0.9221|0.9655|gnomADg_FIN|||||||||||||,G|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000487214|protein_coding_CDS_not_defined||||||||||rs28393498|1787|-1||SNV|HGNC|HGNC:24517||||3||||||||||||||0.9221|0.9024|0.9179|0.9256|0.9523|0.9172||||||||||0.9341|0.9068|0.9638|0.933|0.9278|0.9263|0.9655|0.9299|0.9476|0.9351|0.9221|0.9655|gnomADg_FIN|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000111|promoter||||||||||rs28393498||||SNV||||||||||||||||||||0.9221|0.9024|0.9179|0.9256|0.9523|0.9172||||||||||0.9341|0.9068|0.9638|0.933|0.9278|0.9263|0.9655|0.9299|0.9476|0.9351|0.9221|0.9655|gnomADg_FIN||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.764:4:0,0:0,2:0,2:0,0,2,2 -chr1 961945 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|11%2C14;DP=26;ECNT=2;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=81;POPAF=7.3;TLOD=95.02;SRC=custom;GRP=custom;CSQ=C|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||||||||||rs4970441&COSV58532012|2689|-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||0.8592|0.6959|0.8847|0.9157|0.9433|0.9172|0.9127|0.7143|0.937|0.9166|0.9061|0.9374|0.9286|0.9134|0.9168|0.8693|0.7168|0.8855|0.9003|0.9122|0.9206|0.9404|0.9082|0.9335|0.8865|0.9199|0.9433|EUR||0&1|0&1||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,C|synonymous_variant|LOW|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding|4/12||ENST00000338591.8:c.609G>C|ENSP00000343930.3:p.Ala203%3D|719|609|203|A|gcG/gcC|rs4970441&COSV58532012||1||SNV|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0||||||||0.8592|0.6959|0.8847|0.9157|0.9433|0.9172|0.9127|0.7143|0.937|0.9166|0.9061|0.9374|0.9286|0.9134|0.9168|0.8693|0.7168|0.8855|0.9003|0.9122|0.9206|0.9404|0.9082|0.9335|0.8865|0.9199|0.9433|EUR||0&1|0&1||||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,C|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding||||||||||rs4970441&COSV58532012|4557|1||SNV|HGNC|HGNC:25284||||1|A2|CCDS53256.1|ENSP00000368717|Q494U1.135||UPI00005764FF|Q494U1-3|||||||0.8592|0.6959|0.8847|0.9157|0.9433|0.9172|0.9127|0.7143|0.937|0.9166|0.9061|0.9374|0.9286|0.9134|0.9168|0.8693|0.7168|0.8855|0.9003|0.9122|0.9206|0.9404|0.9082|0.9335|0.8865|0.9199|0.9433|EUR||0&1|0&1||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding||||||||||rs4970441&COSV58532012|4557|1||SNV|HGNC|HGNC:25284||||2|A2|CCDS90835.1|ENSP00000368719|Q494U1.135||UPI0000D61E06|Q494U1-2|||||||0.8592|0.6959|0.8847|0.9157|0.9433|0.9172|0.9127|0.7143|0.937|0.9166|0.9061|0.9374|0.9286|0.9134|0.9168|0.8693|0.7168|0.8855|0.9003|0.9122|0.9206|0.9404|0.9082|0.9335|0.8865|0.9199|0.9433|EUR||0&1|0&1||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGVWDASRAPRGTPDPGLGEGPALWLRSTCVYVCALSALPAGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding||||||||||rs4970441&COSV58532012|4537|1||SNV|HGNC|HGNC:25284|YES|NM_032129.3||1|P4|CCDS4.1|ENSP00000368720|Q494U1.135||UPI00001416D8|Q494U1-1|||||||0.8592|0.6959|0.8847|0.9157|0.9433|0.9172|0.9127|0.7143|0.937|0.9166|0.9061|0.9374|0.9286|0.9134|0.9168|0.8693|0.7168|0.8855|0.9003|0.9122|0.9206|0.9404|0.9082|0.9335|0.8865|0.9199|0.9433|EUR||0&1|0&1||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|non_coding_transcript_exon_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000463212|retained_intron|2/2||ENST00000463212.1:n.422G>C||422|||||rs4970441&COSV58532012||1||SNV|HGNC|HGNC:24023||||1||||||||||||||0.8592|0.6959|0.8847|0.9157|0.9433|0.9172|0.9127|0.7143|0.937|0.9166|0.9061|0.9374|0.9286|0.9134|0.9168|0.8693|0.7168|0.8855|0.9003|0.9122|0.9206|0.9404|0.9082|0.9335|0.8865|0.9199|0.9433|EUR||0&1|0&1||||||||||,C|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000466300|nonsense_mediated_decay||||||||||rs4970441&COSV58532012|782|1|cds_start_NF|SNV|HGNC|HGNC:24023||||3|||ENSP00000463694||J3QLT4.45|UPI000268AE1E||||||||0.8592|0.6959|0.8847|0.9157|0.9433|0.9172|0.9127|0.7143|0.937|0.9166|0.9061|0.9374|0.9286|0.9134|0.9168|0.8693|0.7168|0.8855|0.9003|0.9122|0.9206|0.9404|0.9082|0.9335|0.8865|0.9199|0.9433|EUR||0&1|0&1||||||||XLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGASPGAWGVAQQWDPLTSPVSTCPPQAAGACLPSTETVRPTTRAPTAGTWWPPCPRAGPGWEWLRWGTGSMLWAAMMGPQTWLPWSPTTP||,C|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000469563|retained_intron||||||||||rs4970441&COSV58532012|2689|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||0.8592|0.6959|0.8847|0.9157|0.9433|0.9172|0.9127|0.7143|0.937|0.9166|0.9061|0.9374|0.9286|0.9134|0.9168|0.8693|0.7168|0.8855|0.9003|0.9122|0.9206|0.9404|0.9082|0.9335|0.8865|0.9199|0.9433|EUR||0&1|0&1||||||||||,C|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron||||||||||rs4970441&COSV58532012|3487|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.8592|0.6959|0.8847|0.9157|0.9433|0.9172|0.9127|0.7143|0.937|0.9166|0.9061|0.9374|0.9286|0.9134|0.9168|0.8693|0.7168|0.8855|0.9003|0.9122|0.9206|0.9404|0.9082|0.9335|0.8865|0.9199|0.9433|EUR||0&1|0&1||||||||||,C|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000481067|retained_intron||||||||||rs4970441&COSV58532012|1607|1||SNV|HGNC|HGNC:24023||||2||||||||||||||0.8592|0.6959|0.8847|0.9157|0.9433|0.9172|0.9127|0.7143|0.937|0.9166|0.9061|0.9374|0.9286|0.9134|0.9168|0.8693|0.7168|0.8855|0.9003|0.9122|0.9206|0.9404|0.9082|0.9335|0.8865|0.9199|0.9433|EUR||0&1|0&1||||||||||,C|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000487214|protein_coding_CDS_not_defined||||||||||rs4970441&COSV58532012|2636|-1||SNV|HGNC|HGNC:24517||||3||||||||||||||0.8592|0.6959|0.8847|0.9157|0.9433|0.9172|0.9127|0.7143|0.937|0.9166|0.9061|0.9374|0.9286|0.9134|0.9168|0.8693|0.7168|0.8855|0.9003|0.9122|0.9206|0.9404|0.9082|0.9335|0.8865|0.9199|0.9433|EUR||0&1|0&1||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000111|promoter||||||||||rs4970441&COSV58532012||||SNV||||||||||||||||||||0.8592|0.6959|0.8847|0.9157|0.9433|0.9172|0.9127|0.7143|0.937|0.9166|0.9061|0.9374|0.9286|0.9134|0.9168|0.8693|0.7168|0.8855|0.9003|0.9122|0.9206|0.9404|0.9082|0.9335|0.8865|0.9199|0.9433|EUR||0&1|0&1|||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,25:0.941:25:0,3:0,11:0,15:0,0,11,14 -chr1 961945 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|6%2C5;DP=11;ECNT=1;GERMQ=73;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=59;POPAF=7.3;TLOD=40.5;SRC=custom;GRP=custom;CSQ=C|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||||||||||rs4970441&COSV58532012|2689|-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||0.8592|0.6959|0.8847|0.9157|0.9433|0.9172|0.9127|0.7143|0.937|0.9166|0.9061|0.9374|0.9286|0.9134|0.9168|0.8693|0.7168|0.8855|0.9003|0.9122|0.9206|0.9404|0.9082|0.9335|0.8865|0.9199|0.9433|EUR||0&1|0&1||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,C|synonymous_variant|LOW|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding|4/12||ENST00000338591.8:c.609G>C|ENSP00000343930.3:p.Ala203%3D|719|609|203|A|gcG/gcC|rs4970441&COSV58532012||1||SNV|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0||||||||0.8592|0.6959|0.8847|0.9157|0.9433|0.9172|0.9127|0.7143|0.937|0.9166|0.9061|0.9374|0.9286|0.9134|0.9168|0.8693|0.7168|0.8855|0.9003|0.9122|0.9206|0.9404|0.9082|0.9335|0.8865|0.9199|0.9433|EUR||0&1|0&1||||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,C|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding||||||||||rs4970441&COSV58532012|4557|1||SNV|HGNC|HGNC:25284||||1|A2|CCDS53256.1|ENSP00000368717|Q494U1.135||UPI00005764FF|Q494U1-3|||||||0.8592|0.6959|0.8847|0.9157|0.9433|0.9172|0.9127|0.7143|0.937|0.9166|0.9061|0.9374|0.9286|0.9134|0.9168|0.8693|0.7168|0.8855|0.9003|0.9122|0.9206|0.9404|0.9082|0.9335|0.8865|0.9199|0.9433|EUR||0&1|0&1||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding||||||||||rs4970441&COSV58532012|4557|1||SNV|HGNC|HGNC:25284||||2|A2|CCDS90835.1|ENSP00000368719|Q494U1.135||UPI0000D61E06|Q494U1-2|||||||0.8592|0.6959|0.8847|0.9157|0.9433|0.9172|0.9127|0.7143|0.937|0.9166|0.9061|0.9374|0.9286|0.9134|0.9168|0.8693|0.7168|0.8855|0.9003|0.9122|0.9206|0.9404|0.9082|0.9335|0.8865|0.9199|0.9433|EUR||0&1|0&1||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGVWDASRAPRGTPDPGLGEGPALWLRSTCVYVCALSALPAGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding||||||||||rs4970441&COSV58532012|4537|1||SNV|HGNC|HGNC:25284|YES|NM_032129.3||1|P4|CCDS4.1|ENSP00000368720|Q494U1.135||UPI00001416D8|Q494U1-1|||||||0.8592|0.6959|0.8847|0.9157|0.9433|0.9172|0.9127|0.7143|0.937|0.9166|0.9061|0.9374|0.9286|0.9134|0.9168|0.8693|0.7168|0.8855|0.9003|0.9122|0.9206|0.9404|0.9082|0.9335|0.8865|0.9199|0.9433|EUR||0&1|0&1||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|non_coding_transcript_exon_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000463212|retained_intron|2/2||ENST00000463212.1:n.422G>C||422|||||rs4970441&COSV58532012||1||SNV|HGNC|HGNC:24023||||1||||||||||||||0.8592|0.6959|0.8847|0.9157|0.9433|0.9172|0.9127|0.7143|0.937|0.9166|0.9061|0.9374|0.9286|0.9134|0.9168|0.8693|0.7168|0.8855|0.9003|0.9122|0.9206|0.9404|0.9082|0.9335|0.8865|0.9199|0.9433|EUR||0&1|0&1||||||||||,C|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000466300|nonsense_mediated_decay||||||||||rs4970441&COSV58532012|782|1|cds_start_NF|SNV|HGNC|HGNC:24023||||3|||ENSP00000463694||J3QLT4.45|UPI000268AE1E||||||||0.8592|0.6959|0.8847|0.9157|0.9433|0.9172|0.9127|0.7143|0.937|0.9166|0.9061|0.9374|0.9286|0.9134|0.9168|0.8693|0.7168|0.8855|0.9003|0.9122|0.9206|0.9404|0.9082|0.9335|0.8865|0.9199|0.9433|EUR||0&1|0&1||||||||XLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGASPGAWGVAQQWDPLTSPVSTCPPQAAGACLPSTETVRPTTRAPTAGTWWPPCPRAGPGWEWLRWGTGSMLWAAMMGPQTWLPWSPTTP||,C|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000469563|retained_intron||||||||||rs4970441&COSV58532012|2689|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||0.8592|0.6959|0.8847|0.9157|0.9433|0.9172|0.9127|0.7143|0.937|0.9166|0.9061|0.9374|0.9286|0.9134|0.9168|0.8693|0.7168|0.8855|0.9003|0.9122|0.9206|0.9404|0.9082|0.9335|0.8865|0.9199|0.9433|EUR||0&1|0&1||||||||||,C|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron||||||||||rs4970441&COSV58532012|3487|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.8592|0.6959|0.8847|0.9157|0.9433|0.9172|0.9127|0.7143|0.937|0.9166|0.9061|0.9374|0.9286|0.9134|0.9168|0.8693|0.7168|0.8855|0.9003|0.9122|0.9206|0.9404|0.9082|0.9335|0.8865|0.9199|0.9433|EUR||0&1|0&1||||||||||,C|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000481067|retained_intron||||||||||rs4970441&COSV58532012|1607|1||SNV|HGNC|HGNC:24023||||2||||||||||||||0.8592|0.6959|0.8847|0.9157|0.9433|0.9172|0.9127|0.7143|0.937|0.9166|0.9061|0.9374|0.9286|0.9134|0.9168|0.8693|0.7168|0.8855|0.9003|0.9122|0.9206|0.9404|0.9082|0.9335|0.8865|0.9199|0.9433|EUR||0&1|0&1||||||||||,C|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000487214|protein_coding_CDS_not_defined||||||||||rs4970441&COSV58532012|2636|-1||SNV|HGNC|HGNC:24517||||3||||||||||||||0.8592|0.6959|0.8847|0.9157|0.9433|0.9172|0.9127|0.7143|0.937|0.9166|0.9061|0.9374|0.9286|0.9134|0.9168|0.8693|0.7168|0.8855|0.9003|0.9122|0.9206|0.9404|0.9082|0.9335|0.8865|0.9199|0.9433|EUR||0&1|0&1||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000111|promoter||||||||||rs4970441&COSV58532012||||SNV||||||||||||||||||||0.8592|0.6959|0.8847|0.9157|0.9433|0.9172|0.9127|0.7143|0.937|0.9166|0.9061|0.9374|0.9286|0.9134|0.9168|0.8693|0.7168|0.8855|0.9003|0.9122|0.9206|0.9404|0.9082|0.9335|0.8865|0.9199|0.9433|EUR||0&1|0&1|||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,11:0.875:11:0,0:0,6:0,6:0,0,6,5 -chr1 962001 . T A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5%2C7|1%2C1;DP=14;ECNT=2;GERMQ=53;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=134;POPAF=7.3;TLOD=5.5;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding|||||||||||2745|-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||||||||||||||||||||||||||||||||||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,A|missense_variant|MODERATE|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding|4/12||ENST00000338591.8:c.665T>A|ENSP00000343930.3:p.Val222Glu|775|665|222|V/E|gTg/gAg|||1||SNV|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0|||tolerated(0.62)|benign(0.255)||||||||||||||||||||||||||||||||||||||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,A|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding|||||||||||4501|1||SNV|HGNC|HGNC:25284||||1|A2|CCDS53256.1|ENSP00000368717|Q494U1.135||UPI00005764FF|Q494U1-3|||||||||||||||||||||||||||||||||||||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,A|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding|||||||||||4501|1||SNV|HGNC|HGNC:25284||||2|A2|CCDS90835.1|ENSP00000368719|Q494U1.135||UPI0000D61E06|Q494U1-2|||||||||||||||||||||||||||||||||||||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGVWDASRAPRGTPDPGLGEGPALWLRSTCVYVCALSALPAGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,A|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding|||||||||||4481|1||SNV|HGNC|HGNC:25284|YES|NM_032129.3||1|P4|CCDS4.1|ENSP00000368720|Q494U1.135||UPI00001416D8|Q494U1-1|||||||||||||||||||||||||||||||||||||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,A|non_coding_transcript_exon_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000463212|retained_intron|2/2||ENST00000463212.1:n.478T>A||478|||||||1||SNV|HGNC|HGNC:24023||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000466300|nonsense_mediated_decay|||||||||||726|1|cds_start_NF|SNV|HGNC|HGNC:24023||||3|||ENSP00000463694||J3QLT4.45|UPI000268AE1E||||||||||||||||||||||||||||||||||||||||||||||XLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGASPGAWGVAQQWDPLTSPVSTCPPQAAGACLPSTETVRPTTRAPTAGTWWPPCPRAGPGWEWLRWGTGSMLWAAMMGPQTWLPWSPTTP||,A|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000469563|retained_intron|||||||||||2745|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron|||||||||||3543|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000481067|retained_intron|||||||||||1551|1||SNV|HGNC|HGNC:24023||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000487214|protein_coding_CDS_not_defined|||||||||||2692|-1||SNV|HGNC|HGNC:24517||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000111|promoter||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:12,2:0.2:14:0,0:5,1:7,1:5,7,1,1 -chr1 962184 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|5%2C3;DP=10;ECNT=1;GERMQ=63;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=27;POPAF=7.3;TLOD=29.35;SRC=custom;GRP=custom;CSQ=C|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||||||||||rs13303229&COSV58530775|2928|-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||0.9000|0.8298|0.9078|0.9196|0.9503|0.9172|0.9248|0.8207|0.9453|0.9158|0.9135|0.9372|0.9329|0.9223|0.9164|0.9031|0.8284|0.8833|0.9192|0.9124|0.924|0.9404|0.9114|0.9356|0.9148|0.9202|0.9503|EUR||0&1|0&1||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,C|intron_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding||4/11|ENST00000338591.8:c.711+137T>C|||||||rs13303229&COSV58530775||1||SNV|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0||||||||0.9000|0.8298|0.9078|0.9196|0.9503|0.9172|0.9248|0.8207|0.9453|0.9158|0.9135|0.9372|0.9329|0.9223|0.9164|0.9031|0.8284|0.8833|0.9192|0.9124|0.924|0.9404|0.9114|0.9356|0.9148|0.9202|0.9503|EUR||0&1|0&1||||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,C|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding||||||||||rs13303229&COSV58530775|4318|1||SNV|HGNC|HGNC:25284||||1|A2|CCDS53256.1|ENSP00000368717|Q494U1.135||UPI00005764FF|Q494U1-3|||||||0.9000|0.8298|0.9078|0.9196|0.9503|0.9172|0.9248|0.8207|0.9453|0.9158|0.9135|0.9372|0.9329|0.9223|0.9164|0.9031|0.8284|0.8833|0.9192|0.9124|0.924|0.9404|0.9114|0.9356|0.9148|0.9202|0.9503|EUR||0&1|0&1||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding||||||||||rs13303229&COSV58530775|4318|1||SNV|HGNC|HGNC:25284||||2|A2|CCDS90835.1|ENSP00000368719|Q494U1.135||UPI0000D61E06|Q494U1-2|||||||0.9000|0.8298|0.9078|0.9196|0.9503|0.9172|0.9248|0.8207|0.9453|0.9158|0.9135|0.9372|0.9329|0.9223|0.9164|0.9031|0.8284|0.8833|0.9192|0.9124|0.924|0.9404|0.9114|0.9356|0.9148|0.9202|0.9503|EUR||0&1|0&1||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGVWDASRAPRGTPDPGLGEGPALWLRSTCVYVCALSALPAGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding||||||||||rs13303229&COSV58530775|4298|1||SNV|HGNC|HGNC:25284|YES|NM_032129.3||1|P4|CCDS4.1|ENSP00000368720|Q494U1.135||UPI00001416D8|Q494U1-1|||||||0.9000|0.8298|0.9078|0.9196|0.9503|0.9172|0.9248|0.8207|0.9453|0.9158|0.9135|0.9372|0.9329|0.9223|0.9164|0.9031|0.8284|0.8833|0.9192|0.9124|0.924|0.9404|0.9114|0.9356|0.9148|0.9202|0.9503|EUR||0&1|0&1||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|non_coding_transcript_exon_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000463212|retained_intron|2/2||ENST00000463212.1:n.661T>C||661|||||rs13303229&COSV58530775||1||SNV|HGNC|HGNC:24023||||1||||||||||||||0.9000|0.8298|0.9078|0.9196|0.9503|0.9172|0.9248|0.8207|0.9453|0.9158|0.9135|0.9372|0.9329|0.9223|0.9164|0.9031|0.8284|0.8833|0.9192|0.9124|0.924|0.9404|0.9114|0.9356|0.9148|0.9202|0.9503|EUR||0&1|0&1||||||||||,C|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000466300|nonsense_mediated_decay||||||||||rs13303229&COSV58530775|543|1|cds_start_NF|SNV|HGNC|HGNC:24023||||3|||ENSP00000463694||J3QLT4.45|UPI000268AE1E||||||||0.9000|0.8298|0.9078|0.9196|0.9503|0.9172|0.9248|0.8207|0.9453|0.9158|0.9135|0.9372|0.9329|0.9223|0.9164|0.9031|0.8284|0.8833|0.9192|0.9124|0.924|0.9404|0.9114|0.9356|0.9148|0.9202|0.9503|EUR||0&1|0&1||||||||XLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGASPGAWGVAQQWDPLTSPVSTCPPQAAGACLPSTETVRPTTRAPTAGTWWPPCPRAGPGWEWLRWGTGSMLWAAMMGPQTWLPWSPTTP||,C|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000469563|retained_intron||||||||||rs13303229&COSV58530775|2928|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||0.9000|0.8298|0.9078|0.9196|0.9503|0.9172|0.9248|0.8207|0.9453|0.9158|0.9135|0.9372|0.9329|0.9223|0.9164|0.9031|0.8284|0.8833|0.9192|0.9124|0.924|0.9404|0.9114|0.9356|0.9148|0.9202|0.9503|EUR||0&1|0&1||||||||||,C|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron||||||||||rs13303229&COSV58530775|3726|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.9000|0.8298|0.9078|0.9196|0.9503|0.9172|0.9248|0.8207|0.9453|0.9158|0.9135|0.9372|0.9329|0.9223|0.9164|0.9031|0.8284|0.8833|0.9192|0.9124|0.924|0.9404|0.9114|0.9356|0.9148|0.9202|0.9503|EUR||0&1|0&1||||||||||,C|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000481067|retained_intron||||||||||rs13303229&COSV58530775|1368|1||SNV|HGNC|HGNC:24023||||2||||||||||||||0.9000|0.8298|0.9078|0.9196|0.9503|0.9172|0.9248|0.8207|0.9453|0.9158|0.9135|0.9372|0.9329|0.9223|0.9164|0.9031|0.8284|0.8833|0.9192|0.9124|0.924|0.9404|0.9114|0.9356|0.9148|0.9202|0.9503|EUR||0&1|0&1||||||||||,C|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000487214|protein_coding_CDS_not_defined||||||||||rs13303229&COSV58530775|2875|-1||SNV|HGNC|HGNC:24517||||3||||||||||||||0.9000|0.8298|0.9078|0.9196|0.9503|0.9172|0.9248|0.8207|0.9453|0.9158|0.9135|0.9372|0.9329|0.9223|0.9164|0.9031|0.8284|0.8833|0.9192|0.9124|0.924|0.9404|0.9114|0.9356|0.9148|0.9202|0.9503|EUR||0&1|0&1|||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.864:8:0,0:0,5:0,5:0,0,5,3 -chr1 962184 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C2;DP=6;ECNT=1;GERMQ=58;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=7;POPAF=7.3;TLOD=21.59;SRC=custom;GRP=custom;CSQ=C|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||||||||||rs13303229&COSV58530775|2928|-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||0.9000|0.8298|0.9078|0.9196|0.9503|0.9172|0.9248|0.8207|0.9453|0.9158|0.9135|0.9372|0.9329|0.9223|0.9164|0.9031|0.8284|0.8833|0.9192|0.9124|0.924|0.9404|0.9114|0.9356|0.9148|0.9202|0.9503|EUR||0&1|0&1||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,C|intron_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding||4/11|ENST00000338591.8:c.711+137T>C|||||||rs13303229&COSV58530775||1||SNV|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0||||||||0.9000|0.8298|0.9078|0.9196|0.9503|0.9172|0.9248|0.8207|0.9453|0.9158|0.9135|0.9372|0.9329|0.9223|0.9164|0.9031|0.8284|0.8833|0.9192|0.9124|0.924|0.9404|0.9114|0.9356|0.9148|0.9202|0.9503|EUR||0&1|0&1||||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,C|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding||||||||||rs13303229&COSV58530775|4318|1||SNV|HGNC|HGNC:25284||||1|A2|CCDS53256.1|ENSP00000368717|Q494U1.135||UPI00005764FF|Q494U1-3|||||||0.9000|0.8298|0.9078|0.9196|0.9503|0.9172|0.9248|0.8207|0.9453|0.9158|0.9135|0.9372|0.9329|0.9223|0.9164|0.9031|0.8284|0.8833|0.9192|0.9124|0.924|0.9404|0.9114|0.9356|0.9148|0.9202|0.9503|EUR||0&1|0&1||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding||||||||||rs13303229&COSV58530775|4318|1||SNV|HGNC|HGNC:25284||||2|A2|CCDS90835.1|ENSP00000368719|Q494U1.135||UPI0000D61E06|Q494U1-2|||||||0.9000|0.8298|0.9078|0.9196|0.9503|0.9172|0.9248|0.8207|0.9453|0.9158|0.9135|0.9372|0.9329|0.9223|0.9164|0.9031|0.8284|0.8833|0.9192|0.9124|0.924|0.9404|0.9114|0.9356|0.9148|0.9202|0.9503|EUR||0&1|0&1||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGVWDASRAPRGTPDPGLGEGPALWLRSTCVYVCALSALPAGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding||||||||||rs13303229&COSV58530775|4298|1||SNV|HGNC|HGNC:25284|YES|NM_032129.3||1|P4|CCDS4.1|ENSP00000368720|Q494U1.135||UPI00001416D8|Q494U1-1|||||||0.9000|0.8298|0.9078|0.9196|0.9503|0.9172|0.9248|0.8207|0.9453|0.9158|0.9135|0.9372|0.9329|0.9223|0.9164|0.9031|0.8284|0.8833|0.9192|0.9124|0.924|0.9404|0.9114|0.9356|0.9148|0.9202|0.9503|EUR||0&1|0&1||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|non_coding_transcript_exon_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000463212|retained_intron|2/2||ENST00000463212.1:n.661T>C||661|||||rs13303229&COSV58530775||1||SNV|HGNC|HGNC:24023||||1||||||||||||||0.9000|0.8298|0.9078|0.9196|0.9503|0.9172|0.9248|0.8207|0.9453|0.9158|0.9135|0.9372|0.9329|0.9223|0.9164|0.9031|0.8284|0.8833|0.9192|0.9124|0.924|0.9404|0.9114|0.9356|0.9148|0.9202|0.9503|EUR||0&1|0&1||||||||||,C|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000466300|nonsense_mediated_decay||||||||||rs13303229&COSV58530775|543|1|cds_start_NF|SNV|HGNC|HGNC:24023||||3|||ENSP00000463694||J3QLT4.45|UPI000268AE1E||||||||0.9000|0.8298|0.9078|0.9196|0.9503|0.9172|0.9248|0.8207|0.9453|0.9158|0.9135|0.9372|0.9329|0.9223|0.9164|0.9031|0.8284|0.8833|0.9192|0.9124|0.924|0.9404|0.9114|0.9356|0.9148|0.9202|0.9503|EUR||0&1|0&1||||||||XLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGASPGAWGVAQQWDPLTSPVSTCPPQAAGACLPSTETVRPTTRAPTAGTWWPPCPRAGPGWEWLRWGTGSMLWAAMMGPQTWLPWSPTTP||,C|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000469563|retained_intron||||||||||rs13303229&COSV58530775|2928|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||0.9000|0.8298|0.9078|0.9196|0.9503|0.9172|0.9248|0.8207|0.9453|0.9158|0.9135|0.9372|0.9329|0.9223|0.9164|0.9031|0.8284|0.8833|0.9192|0.9124|0.924|0.9404|0.9114|0.9356|0.9148|0.9202|0.9503|EUR||0&1|0&1||||||||||,C|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron||||||||||rs13303229&COSV58530775|3726|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.9000|0.8298|0.9078|0.9196|0.9503|0.9172|0.9248|0.8207|0.9453|0.9158|0.9135|0.9372|0.9329|0.9223|0.9164|0.9031|0.8284|0.8833|0.9192|0.9124|0.924|0.9404|0.9114|0.9356|0.9148|0.9202|0.9503|EUR||0&1|0&1||||||||||,C|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000481067|retained_intron||||||||||rs13303229&COSV58530775|1368|1||SNV|HGNC|HGNC:24023||||2||||||||||||||0.9000|0.8298|0.9078|0.9196|0.9503|0.9172|0.9248|0.8207|0.9453|0.9158|0.9135|0.9372|0.9329|0.9223|0.9164|0.9031|0.8284|0.8833|0.9192|0.9124|0.924|0.9404|0.9114|0.9356|0.9148|0.9202|0.9503|EUR||0&1|0&1||||||||||,C|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000487214|protein_coding_CDS_not_defined||||||||||rs13303229&COSV58530775|2875|-1||SNV|HGNC|HGNC:24517||||3||||||||||||||0.9000|0.8298|0.9078|0.9196|0.9503|0.9172|0.9248|0.8207|0.9453|0.9158|0.9135|0.9372|0.9329|0.9223|0.9164|0.9031|0.8284|0.8833|0.9192|0.9124|0.924|0.9404|0.9114|0.9356|0.9148|0.9202|0.9503|EUR||0&1|0&1|||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.833:6:0,0:0,4:0,4:0,0,4,2 -chr1 962943 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=81;POPAF=7.3;TLOD=7.35;SRC=custom;GRP=custom;CSQ=C|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||||||||||rs6605071|3687|-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||0.9269|0.9266|0.9078|0.9206|0.9493|0.9243|0.94|0.9218|0.9554|0.9621|0.9126|0.9589|0.9418|0.9393|0.9298|0.9371|0.9219|0.9638|0.9291|0.9608|0.9241|0.965|0.9494|0.9437|0.9388|0.9292|0.965|gnomADg_FIN|||||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,C|intron_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding||6/11|ENST00000338591.8:c.1042+26T>C|||||||rs6605071||1||SNV|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0||||||||0.9269|0.9266|0.9078|0.9206|0.9493|0.9243|0.94|0.9218|0.9554|0.9621|0.9126|0.9589|0.9418|0.9393|0.9298|0.9371|0.9219|0.9638|0.9291|0.9608|0.9241|0.965|0.9494|0.9437|0.9388|0.9292|0.965|gnomADg_FIN|||||||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,C|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding||||||||||rs6605071|3559|1||SNV|HGNC|HGNC:25284||||1|A2|CCDS53256.1|ENSP00000368717|Q494U1.135||UPI00005764FF|Q494U1-3|||||||0.9269|0.9266|0.9078|0.9206|0.9493|0.9243|0.94|0.9218|0.9554|0.9621|0.9126|0.9589|0.9418|0.9393|0.9298|0.9371|0.9219|0.9638|0.9291|0.9608|0.9241|0.965|0.9494|0.9437|0.9388|0.9292|0.965|gnomADg_FIN|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding||||||||||rs6605071|3559|1||SNV|HGNC|HGNC:25284||||2|A2|CCDS90835.1|ENSP00000368719|Q494U1.135||UPI0000D61E06|Q494U1-2|||||||0.9269|0.9266|0.9078|0.9206|0.9493|0.9243|0.94|0.9218|0.9554|0.9621|0.9126|0.9589|0.9418|0.9393|0.9298|0.9371|0.9219|0.9638|0.9291|0.9608|0.9241|0.965|0.9494|0.9437|0.9388|0.9292|0.965|gnomADg_FIN|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGVWDASRAPRGTPDPGLGEGPALWLRSTCVYVCALSALPAGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding||||||||||rs6605071|3539|1||SNV|HGNC|HGNC:25284|YES|NM_032129.3||1|P4|CCDS4.1|ENSP00000368720|Q494U1.135||UPI00001416D8|Q494U1-1|||||||0.9269|0.9266|0.9078|0.9206|0.9493|0.9243|0.94|0.9218|0.9554|0.9621|0.9126|0.9589|0.9418|0.9393|0.9298|0.9371|0.9219|0.9638|0.9291|0.9608|0.9241|0.965|0.9494|0.9437|0.9388|0.9292|0.965|gnomADg_FIN|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000463212|retained_intron||||||||||rs6605071|465|1||SNV|HGNC|HGNC:24023||||1||||||||||||||0.9269|0.9266|0.9078|0.9206|0.9493|0.9243|0.94|0.9218|0.9554|0.9621|0.9126|0.9589|0.9418|0.9393|0.9298|0.9371|0.9219|0.9638|0.9291|0.9608|0.9241|0.965|0.9494|0.9437|0.9388|0.9292|0.965|gnomADg_FIN|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000466300|nonsense_mediated_decay||1/5|ENST00000466300.1:c.191+26T>C|||||||rs6605071||1|cds_start_NF|SNV|HGNC|HGNC:24023||||3|||ENSP00000463694||J3QLT4.45|UPI000268AE1E||||||||0.9269|0.9266|0.9078|0.9206|0.9493|0.9243|0.94|0.9218|0.9554|0.9621|0.9126|0.9589|0.9418|0.9393|0.9298|0.9371|0.9219|0.9638|0.9291|0.9608|0.9241|0.965|0.9494|0.9437|0.9388|0.9292|0.965|gnomADg_FIN|||||||||||XLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGASPGAWGVAQQWDPLTSPVSTCPPQAAGACLPSTETVRPTTRAPTAGTWWPPCPRAGPGWEWLRWGTGSMLWAAMMGPQTWLPWSPTTP||,C|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000469563|retained_intron||||||||||rs6605071|3687|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||0.9269|0.9266|0.9078|0.9206|0.9493|0.9243|0.94|0.9218|0.9554|0.9621|0.9126|0.9589|0.9418|0.9393|0.9298|0.9371|0.9219|0.9638|0.9291|0.9608|0.9241|0.965|0.9494|0.9437|0.9388|0.9292|0.965|gnomADg_FIN|||||||||||||,C|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron||||||||||rs6605071|4485|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.9269|0.9266|0.9078|0.9206|0.9493|0.9243|0.94|0.9218|0.9554|0.9621|0.9126|0.9589|0.9418|0.9393|0.9298|0.9371|0.9219|0.9638|0.9291|0.9608|0.9241|0.965|0.9494|0.9437|0.9388|0.9292|0.965|gnomADg_FIN|||||||||||||,C|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000481067|retained_intron||||||||||rs6605071|609|1||SNV|HGNC|HGNC:24023||||2||||||||||||||0.9269|0.9266|0.9078|0.9206|0.9493|0.9243|0.94|0.9218|0.9554|0.9621|0.9126|0.9589|0.9418|0.9393|0.9298|0.9371|0.9219|0.9638|0.9291|0.9608|0.9241|0.965|0.9494|0.9437|0.9388|0.9292|0.965|gnomADg_FIN|||||||||||||,C|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000487214|protein_coding_CDS_not_defined||||||||||rs6605071|3634|-1||SNV|HGNC|HGNC:24517||||3||||||||||||||0.9269|0.9266|0.9078|0.9206|0.9493|0.9243|0.94|0.9218|0.9554|0.9621|0.9126|0.9589|0.9418|0.9393|0.9298|0.9371|0.9219|0.9638|0.9291|0.9608|0.9241|0.965|0.9494|0.9437|0.9388|0.9292|0.965|gnomADg_FIN||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 963171 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=6%2C7|1%2C1;DP=17;ECNT=2;GERMQ=55;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=72;POPAF=7.3;TLOD=5.37;SRC=custom;GRP=custom;CSQ=C|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding|||||||||||3915|-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||||||||||||||||||||||||||||||||||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,C|missense_variant|MODERATE|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding|7/12||ENST00000338591.8:c.1105T>C|ENSP00000343930.3:p.Trp369Arg|1215|1105|369|W/R|Tgg/Cgg|||1||SNV|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0|||deleterious(0)|probably_damaging(0.994)|PDB-ENSP_mappings:6hrl.A&PDB-ENSP_mappings:6hrl.B|||||||||||||||||||||||||||||||||||||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,C|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding|||||||||||3331|1||SNV|HGNC|HGNC:25284||||1|A2|CCDS53256.1|ENSP00000368717|Q494U1.135||UPI00005764FF|Q494U1-3|||||||||||||||||||||||||||||||||||||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding|||||||||||3331|1||SNV|HGNC|HGNC:25284||||2|A2|CCDS90835.1|ENSP00000368719|Q494U1.135||UPI0000D61E06|Q494U1-2|||||||||||||||||||||||||||||||||||||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGVWDASRAPRGTPDPGLGEGPALWLRSTCVYVCALSALPAGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding|||||||||||3311|1||SNV|HGNC|HGNC:25284|YES|NM_032129.3||1|P4|CCDS4.1|ENSP00000368720|Q494U1.135||UPI00001416D8|Q494U1-1|||||||||||||||||||||||||||||||||||||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000463212|retained_intron|||||||||||693|1||SNV|HGNC|HGNC:24023||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|synonymous_variant&NMD_transcript_variant|LOW|KLHL17|ENSG00000187961|Transcript|ENST00000466300|nonsense_mediated_decay|2/6||ENST00000466300.1:c.333T>C|ENSP00000463694.1:p.Ala111%3D|331|333|111|A|gcT/gcC|||1|cds_start_NF|SNV|HGNC|HGNC:24023||||3|||ENSP00000463694||J3QLT4.45|UPI000268AE1E||||||||||||||||||||||||||||||||||||||||||||||XLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGASPGAWGVAQQWDPLTSPVSTCPPQAAGACLPSTETVRPTTRAPTAGTWWPPCPRAGPGWEWLRWGTGSMLWAAMMGPQTWLPWSPTTP||,C|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000469563|retained_intron|||||||||||3915|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron|||||||||||4713|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000481067|retained_intron|||||||||||381|1||SNV|HGNC|HGNC:24023||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000487214|protein_coding_CDS_not_defined|||||||||||3862|-1||SNV|HGNC|HGNC:24517||||3|||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:13,2:0.197:15:1,0:6,1:7,1:6,7,1,1 -chr1 963247 . T G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C3|1%2C1;DP=7;ECNT=2;GERMQ=39;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=119;POPAF=7.3;TLOD=6.37;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding|||||||||||3991|-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||||||||||||||||||||||||||||||||||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,G|missense_variant|MODERATE|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding|7/12||ENST00000338591.8:c.1181T>G|ENSP00000343930.3:p.Val394Gly|1291|1181|394|V/G|gTg/gGg|||1||SNV|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0|||deleterious(0)|probably_damaging(0.953)|PDB-ENSP_mappings:6hrl.A&PDB-ENSP_mappings:6hrl.B|||||||||||||||||||||||||||||||||||||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,G|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding|||||||||||3255|1||SNV|HGNC|HGNC:25284||||1|A2|CCDS53256.1|ENSP00000368717|Q494U1.135||UPI00005764FF|Q494U1-3|||||||||||||||||||||||||||||||||||||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,G|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding|||||||||||3255|1||SNV|HGNC|HGNC:25284||||2|A2|CCDS90835.1|ENSP00000368719|Q494U1.135||UPI0000D61E06|Q494U1-2|||||||||||||||||||||||||||||||||||||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGVWDASRAPRGTPDPGLGEGPALWLRSTCVYVCALSALPAGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,G|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding|||||||||||3235|1||SNV|HGNC|HGNC:25284|YES|NM_032129.3||1|P4|CCDS4.1|ENSP00000368720|Q494U1.135||UPI00001416D8|Q494U1-1|||||||||||||||||||||||||||||||||||||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,G|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000463212|retained_intron|||||||||||769|1||SNV|HGNC|HGNC:24023||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|missense_variant&NMD_transcript_variant|MODERATE|KLHL17|ENSG00000187961|Transcript|ENST00000466300|nonsense_mediated_decay|2/6||ENST00000466300.1:c.409T>G|ENSP00000463694.1:p.Trp137Gly|407|409|137|W/G|Tgg/Ggg|||1|cds_start_NF|SNV|HGNC|HGNC:24023||||3|||ENSP00000463694||J3QLT4.45|UPI000268AE1E|||deleterious_low_confidence(0)|benign(0)||||||||||||||||||||||||||||||||||||||||||XLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGASPGAWGVAQQWDPLTSPVSTCPPQAAGACLPSTETVRPTTRAPTAGTWWPPCPRAGPGWEWLRWGTGSMLWAAMMGPQTWLPWSPTTP||,G|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000469563|retained_intron|||||||||||3991|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron|||||||||||4789|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000481067|retained_intron|||||||||||305|1||SNV|HGNC|HGNC:24023||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000487214|protein_coding_CDS_not_defined|||||||||||3938|-1||SNV|HGNC|HGNC:24517||||3|||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,2:0.4:6:0,0:1,1:2,1:1,3,1,1 -chr1 964218 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C1|1%2C1;DP=5;ECNT=1;GERMQ=38;MBQ=35,30;MFRL=0,0;MMQ=60,60;MPOS=90;POPAF=7.3;TLOD=5.45;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||||||||||COSV100498232|4962|-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C|||||||||||||||||||||||||||||||||||||1|1||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,G|intron_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding||10/11|ENST00000338591.8:c.1518+38C>G|||||||COSV100498232||1||SNV|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0|||||||||||||||||||||||||||||||||||||1|1||||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,G|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding||||||||||COSV100498232|2284|1||SNV|HGNC|HGNC:25284||||1|A2|CCDS53256.1|ENSP00000368717|Q494U1.135||UPI00005764FF|Q494U1-3||||||||||||||||||||||||||||||||||||1|1||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,G|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding||||||||||COSV100498232|2284|1||SNV|HGNC|HGNC:25284||||2|A2|CCDS90835.1|ENSP00000368719|Q494U1.135||UPI0000D61E06|Q494U1-2||||||||||||||||||||||||||||||||||||1|1||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGVWDASRAPRGTPDPGLGEGPALWLRSTCVYVCALSALPAGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,G|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding||||||||||COSV100498232|2264|1||SNV|HGNC|HGNC:25284|YES|NM_032129.3||1|P4|CCDS4.1|ENSP00000368720|Q494U1.135||UPI00001416D8|Q494U1-1||||||||||||||||||||||||||||||||||||1|1||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,G|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000463212|retained_intron||||||||||COSV100498232|1740|1||SNV|HGNC|HGNC:24023||||1|||||||||||||||||||||||||||||||||||||||||||1|1||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000466300|nonsense_mediated_decay||5/5|ENST00000466300.1:c.*268+51C>G|||||||COSV100498232||1|cds_start_NF|SNV|HGNC|HGNC:24023||||3|||ENSP00000463694||J3QLT4.45|UPI000268AE1E|||||||||||||||||||||||||||||||||||||1|1||||||||XLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGASPGAWGVAQQWDPLTSPVSTCPPQAAGACLPSTETVRPTTRAPTAGTWWPPCPRAGPGWEWLRWGTGSMLWAAMMGPQTWLPWSPTTP||,G|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000469563|retained_intron||||||||||COSV100498232|4962|-1||SNV|HGNC|HGNC:24517||||2|||||||||||||||||||||||||||||||||||||||||||1|1||||||||||,G|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000481067|retained_intron||||||||||COSV100498232|54|1||SNV|HGNC|HGNC:24023||||2|||||||||||||||||||||||||||||||||||||||||||1|1||||||||||,G|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000487214|protein_coding_CDS_not_defined||||||||||COSV100498232|4909|-1||SNV|HGNC|HGNC:24517||||3|||||||||||||||||||||||||||||||||||||||||||1|1|||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,2:0.4:5:0,0:2,1:2,1:2,1,1,1 -chr1 965125 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=7%2C6|9%2C8;DP=30;ECNT=1;GERMQ=34;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=72;POPAF=7.3;TLOD=58.41;SRC=custom;GRP=custom;CSQ=C|synonymous_variant|LOW|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding|12/12||ENST00000338591.8:c.1863G>C|ENSP00000343930.3:p.Val621%3D|1973|1863|621|V|gtG/gtC|rs28705211&COSV58531879||1||SNV|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0|||||PDB-ENSP_mappings:6hrl.A&PDB-ENSP_mappings:6hrl.B|||0.1687|0.0174|0.2017|0.0913|0.2903|0.3047|0.2411|0.04454|0.1989|0.3418|0.08084|0.2774|0.2749|0.2628|0.3016|0.2002|0.04827|0.3443|0.1872|0.3219|0.08066|0.2759|0.2468|0.278|0.2137|0.287|0.3443|gnomADg_AMI||0&1|0&1|20637081|||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,C|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding||||||||||rs28705211&COSV58531879|1377|1||SNV|HGNC|HGNC:25284||||1|A2|CCDS53256.1|ENSP00000368717|Q494U1.135||UPI00005764FF|Q494U1-3|||||||0.1687|0.0174|0.2017|0.0913|0.2903|0.3047|0.2411|0.04454|0.1989|0.3418|0.08084|0.2774|0.2749|0.2628|0.3016|0.2002|0.04827|0.3443|0.1872|0.3219|0.08066|0.2759|0.2468|0.278|0.2137|0.287|0.3443|gnomADg_AMI||0&1|0&1|20637081|||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding||||||||||rs28705211&COSV58531879|1377|1||SNV|HGNC|HGNC:25284||||2|A2|CCDS90835.1|ENSP00000368719|Q494U1.135||UPI0000D61E06|Q494U1-2|||||||0.1687|0.0174|0.2017|0.0913|0.2903|0.3047|0.2411|0.04454|0.1989|0.3418|0.08084|0.2774|0.2749|0.2628|0.3016|0.2002|0.04827|0.3443|0.1872|0.3219|0.08066|0.2759|0.2468|0.278|0.2137|0.287|0.3443|gnomADg_AMI||0&1|0&1|20637081|||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGVWDASRAPRGTPDPGLGEGPALWLRSTCVYVCALSALPAGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding||||||||||rs28705211&COSV58531879|1357|1||SNV|HGNC|HGNC:25284|YES|NM_032129.3||1|P4|CCDS4.1|ENSP00000368720|Q494U1.135||UPI00001416D8|Q494U1-1|||||||0.1687|0.0174|0.2017|0.0913|0.2903|0.3047|0.2411|0.04454|0.1989|0.3418|0.08084|0.2774|0.2749|0.2628|0.3016|0.2002|0.04827|0.3443|0.1872|0.3219|0.08066|0.2759|0.2468|0.278|0.2137|0.287|0.3443|gnomADg_AMI||0&1|0&1|20637081|||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000463212|retained_intron||||||||||rs28705211&COSV58531879|2647|1||SNV|HGNC|HGNC:24023||||1||||||||||||||0.1687|0.0174|0.2017|0.0913|0.2903|0.3047|0.2411|0.04454|0.1989|0.3418|0.08084|0.2774|0.2749|0.2628|0.3016|0.2002|0.04827|0.3443|0.1872|0.3219|0.08066|0.2759|0.2468|0.278|0.2137|0.287|0.3443|gnomADg_AMI||0&1|0&1|20637081|||||||||,C|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000466300|nonsense_mediated_decay||||||||||rs28705211&COSV58531879|595|1|cds_start_NF|SNV|HGNC|HGNC:24023||||3|||ENSP00000463694||J3QLT4.45|UPI000268AE1E||||||||0.1687|0.0174|0.2017|0.0913|0.2903|0.3047|0.2411|0.04454|0.1989|0.3418|0.08084|0.2774|0.2749|0.2628|0.3016|0.2002|0.04827|0.3443|0.1872|0.3219|0.08066|0.2759|0.2468|0.278|0.2137|0.287|0.3443|gnomADg_AMI||0&1|0&1|20637081|||||||XLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGASPGAWGVAQQWDPLTSPVSTCPPQAAGACLPSTETVRPTTRAPTAGTWWPPCPRAGPGWEWLRWGTGSMLWAAMMGPQTWLPWSPTTP||,C|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000481067|retained_intron||||||||||rs28705211&COSV58531879|961|1||SNV|HGNC|HGNC:24023||||2||||||||||||||0.1687|0.0174|0.2017|0.0913|0.2903|0.3047|0.2411|0.04454|0.1989|0.3418|0.08084|0.2774|0.2749|0.2628|0.3016|0.2002|0.04827|0.3443|0.1872|0.3219|0.08066|0.2759|0.2468|0.278|0.2137|0.287|0.3443|gnomADg_AMI||0&1|0&1|20637081||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:13,17:0.6:30:0,2:7,9:7,11:7,6,9,8 -chr1 965125 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=6%2C7|4%2C4;DP=22;ECNT=1;GERMQ=38;MBQ=35,33;MFRL=0,0;MMQ=60,60;MPOS=59;POPAF=7.3;TLOD=26.09;SRC=custom;GRP=custom;CSQ=C|synonymous_variant|LOW|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding|12/12||ENST00000338591.8:c.1863G>C|ENSP00000343930.3:p.Val621%3D|1973|1863|621|V|gtG/gtC|rs28705211&COSV58531879||1||SNV|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0|||||PDB-ENSP_mappings:6hrl.A&PDB-ENSP_mappings:6hrl.B|||0.1687|0.0174|0.2017|0.0913|0.2903|0.3047|0.2411|0.04454|0.1989|0.3418|0.08084|0.2774|0.2749|0.2628|0.3016|0.2002|0.04827|0.3443|0.1872|0.3219|0.08066|0.2759|0.2468|0.278|0.2137|0.287|0.3443|gnomADg_AMI||0&1|0&1|20637081|||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,C|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding||||||||||rs28705211&COSV58531879|1377|1||SNV|HGNC|HGNC:25284||||1|A2|CCDS53256.1|ENSP00000368717|Q494U1.135||UPI00005764FF|Q494U1-3|||||||0.1687|0.0174|0.2017|0.0913|0.2903|0.3047|0.2411|0.04454|0.1989|0.3418|0.08084|0.2774|0.2749|0.2628|0.3016|0.2002|0.04827|0.3443|0.1872|0.3219|0.08066|0.2759|0.2468|0.278|0.2137|0.287|0.3443|gnomADg_AMI||0&1|0&1|20637081|||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding||||||||||rs28705211&COSV58531879|1377|1||SNV|HGNC|HGNC:25284||||2|A2|CCDS90835.1|ENSP00000368719|Q494U1.135||UPI0000D61E06|Q494U1-2|||||||0.1687|0.0174|0.2017|0.0913|0.2903|0.3047|0.2411|0.04454|0.1989|0.3418|0.08084|0.2774|0.2749|0.2628|0.3016|0.2002|0.04827|0.3443|0.1872|0.3219|0.08066|0.2759|0.2468|0.278|0.2137|0.287|0.3443|gnomADg_AMI||0&1|0&1|20637081|||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGVWDASRAPRGTPDPGLGEGPALWLRSTCVYVCALSALPAGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding||||||||||rs28705211&COSV58531879|1357|1||SNV|HGNC|HGNC:25284|YES|NM_032129.3||1|P4|CCDS4.1|ENSP00000368720|Q494U1.135||UPI00001416D8|Q494U1-1|||||||0.1687|0.0174|0.2017|0.0913|0.2903|0.3047|0.2411|0.04454|0.1989|0.3418|0.08084|0.2774|0.2749|0.2628|0.3016|0.2002|0.04827|0.3443|0.1872|0.3219|0.08066|0.2759|0.2468|0.278|0.2137|0.287|0.3443|gnomADg_AMI||0&1|0&1|20637081|||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000463212|retained_intron||||||||||rs28705211&COSV58531879|2647|1||SNV|HGNC|HGNC:24023||||1||||||||||||||0.1687|0.0174|0.2017|0.0913|0.2903|0.3047|0.2411|0.04454|0.1989|0.3418|0.08084|0.2774|0.2749|0.2628|0.3016|0.2002|0.04827|0.3443|0.1872|0.3219|0.08066|0.2759|0.2468|0.278|0.2137|0.287|0.3443|gnomADg_AMI||0&1|0&1|20637081|||||||||,C|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000466300|nonsense_mediated_decay||||||||||rs28705211&COSV58531879|595|1|cds_start_NF|SNV|HGNC|HGNC:24023||||3|||ENSP00000463694||J3QLT4.45|UPI000268AE1E||||||||0.1687|0.0174|0.2017|0.0913|0.2903|0.3047|0.2411|0.04454|0.1989|0.3418|0.08084|0.2774|0.2749|0.2628|0.3016|0.2002|0.04827|0.3443|0.1872|0.3219|0.08066|0.2759|0.2468|0.278|0.2137|0.287|0.3443|gnomADg_AMI||0&1|0&1|20637081|||||||XLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGASPGAWGVAQQWDPLTSPVSTCPPQAAGACLPSTETVRPTTRAPTAGTWWPPCPRAGPGWEWLRWGTGSMLWAAMMGPQTWLPWSPTTP||,C|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000481067|retained_intron||||||||||rs28705211&COSV58531879|961|1||SNV|HGNC|HGNC:24023||||2||||||||||||||0.1687|0.0174|0.2017|0.0913|0.2903|0.3047|0.2411|0.04454|0.1989|0.3418|0.08084|0.2774|0.2749|0.2628|0.3016|0.2002|0.04827|0.3443|0.1872|0.3219|0.08066|0.2759|0.2468|0.278|0.2137|0.287|0.3443|gnomADg_AMI||0&1|0&1|20637081||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:13,8:0.428:21:1,0:5,4:7,5:6,7,4,4 -chr1 965350 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|11%2C11;DP=23;ECNT=2;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=72;POPAF=7.3;TLOD=92.19;SRC=custom;GRP=custom;CSQ=A|3_prime_UTR_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding|12/12||ENST00000338591.8:c.*159G>A||2198|||||rs3935066||1||SNV|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0||||||||0.6474|0.2005|0.7061|0.7083|0.9095|0.8773||||||||||0.7153|0.2952|0.8659|0.7412|0.8821|0.7346|0.9169|0.8228|0.9088|0.7641|0.8679|0.9169|gnomADg_FIN||||29422604|||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,A|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding||||||||||rs3935066|1152|1||SNV|HGNC|HGNC:25284||||1|A2|CCDS53256.1|ENSP00000368717|Q494U1.135||UPI00005764FF|Q494U1-3|||||||0.6474|0.2005|0.7061|0.7083|0.9095|0.8773||||||||||0.7153|0.2952|0.8659|0.7412|0.8821|0.7346|0.9169|0.8228|0.9088|0.7641|0.8679|0.9169|gnomADg_FIN||||29422604|||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,A|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding||||||||||rs3935066|1152|1||SNV|HGNC|HGNC:25284||||2|A2|CCDS90835.1|ENSP00000368719|Q494U1.135||UPI0000D61E06|Q494U1-2|||||||0.6474|0.2005|0.7061|0.7083|0.9095|0.8773||||||||||0.7153|0.2952|0.8659|0.7412|0.8821|0.7346|0.9169|0.8228|0.9088|0.7641|0.8679|0.9169|gnomADg_FIN||||29422604|||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGVWDASRAPRGTPDPGLGEGPALWLRSTCVYVCALSALPAGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,A|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding||||||||||rs3935066|1132|1||SNV|HGNC|HGNC:25284|YES|NM_032129.3||1|P4|CCDS4.1|ENSP00000368720|Q494U1.135||UPI00001416D8|Q494U1-1|||||||0.6474|0.2005|0.7061|0.7083|0.9095|0.8773||||||||||0.7153|0.2952|0.8659|0.7412|0.8821|0.7346|0.9169|0.8228|0.9088|0.7641|0.8679|0.9169|gnomADg_FIN||||29422604|||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,A|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000463212|retained_intron||||||||||rs3935066|2872|1||SNV|HGNC|HGNC:24023||||1||||||||||||||0.6474|0.2005|0.7061|0.7083|0.9095|0.8773||||||||||0.7153|0.2952|0.8659|0.7412|0.8821|0.7346|0.9169|0.8228|0.9088|0.7641|0.8679|0.9169|gnomADg_FIN||||29422604|||||||||,A|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000466300|nonsense_mediated_decay||||||||||rs3935066|820|1|cds_start_NF|SNV|HGNC|HGNC:24023||||3|||ENSP00000463694||J3QLT4.45|UPI000268AE1E||||||||0.6474|0.2005|0.7061|0.7083|0.9095|0.8773||||||||||0.7153|0.2952|0.8659|0.7412|0.8821|0.7346|0.9169|0.8228|0.9088|0.7641|0.8679|0.9169|gnomADg_FIN||||29422604|||||||XLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGASPGAWGVAQQWDPLTSPVSTCPPQAAGACLPSTETVRPTTRAPTAGTWWPPCPRAGPGWEWLRWGTGSMLWAAMMGPQTWLPWSPTTP||,A|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000481067|retained_intron||||||||||rs3935066|1186|1||SNV|HGNC|HGNC:24023||||2||||||||||||||0.6474|0.2005|0.7061|0.7083|0.9095|0.8773||||||||||0.7153|0.2952|0.8659|0.7412|0.8821|0.7346|0.9169|0.8228|0.9088|0.7641|0.8679|0.9169|gnomADg_FIN||||29422604||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,22:0.937:22:0,0:0,11:0,14:0|1:965337_CTTAT_C:965337:0,0,11,11 -chr1 965350 . G A . haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|6%2C10;DP=20;ECNT=2;GERMQ=88;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=58;POPAF=7.3;TLOD=59.25;SRC=custom;GRP=custom;CSQ=A|3_prime_UTR_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding|12/12||ENST00000338591.8:c.*159G>A||2198|||||rs3935066||1||SNV|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0||||||||0.6474|0.2005|0.7061|0.7083|0.9095|0.8773||||||||||0.7153|0.2952|0.8659|0.7412|0.8821|0.7346|0.9169|0.8228|0.9088|0.7641|0.8679|0.9169|gnomADg_FIN||||29422604|||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,A|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding||||||||||rs3935066|1152|1||SNV|HGNC|HGNC:25284||||1|A2|CCDS53256.1|ENSP00000368717|Q494U1.135||UPI00005764FF|Q494U1-3|||||||0.6474|0.2005|0.7061|0.7083|0.9095|0.8773||||||||||0.7153|0.2952|0.8659|0.7412|0.8821|0.7346|0.9169|0.8228|0.9088|0.7641|0.8679|0.9169|gnomADg_FIN||||29422604|||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,A|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding||||||||||rs3935066|1152|1||SNV|HGNC|HGNC:25284||||2|A2|CCDS90835.1|ENSP00000368719|Q494U1.135||UPI0000D61E06|Q494U1-2|||||||0.6474|0.2005|0.7061|0.7083|0.9095|0.8773||||||||||0.7153|0.2952|0.8659|0.7412|0.8821|0.7346|0.9169|0.8228|0.9088|0.7641|0.8679|0.9169|gnomADg_FIN||||29422604|||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGVWDASRAPRGTPDPGLGEGPALWLRSTCVYVCALSALPAGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,A|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding||||||||||rs3935066|1132|1||SNV|HGNC|HGNC:25284|YES|NM_032129.3||1|P4|CCDS4.1|ENSP00000368720|Q494U1.135||UPI00001416D8|Q494U1-1|||||||0.6474|0.2005|0.7061|0.7083|0.9095|0.8773||||||||||0.7153|0.2952|0.8659|0.7412|0.8821|0.7346|0.9169|0.8228|0.9088|0.7641|0.8679|0.9169|gnomADg_FIN||||29422604|||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,A|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000463212|retained_intron||||||||||rs3935066|2872|1||SNV|HGNC|HGNC:24023||||1||||||||||||||0.6474|0.2005|0.7061|0.7083|0.9095|0.8773||||||||||0.7153|0.2952|0.8659|0.7412|0.8821|0.7346|0.9169|0.8228|0.9088|0.7641|0.8679|0.9169|gnomADg_FIN||||29422604|||||||||,A|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000466300|nonsense_mediated_decay||||||||||rs3935066|820|1|cds_start_NF|SNV|HGNC|HGNC:24023||||3|||ENSP00000463694||J3QLT4.45|UPI000268AE1E||||||||0.6474|0.2005|0.7061|0.7083|0.9095|0.8773||||||||||0.7153|0.2952|0.8659|0.7412|0.8821|0.7346|0.9169|0.8228|0.9088|0.7641|0.8679|0.9169|gnomADg_FIN||||29422604|||||||XLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGASPGAWGVAQQWDPLTSPVSTCPPQAAGACLPSTETVRPTTRAPTAGTWWPPCPRAGPGWEWLRWGTGSMLWAAMMGPQTWLPWSPTTP||,A|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000481067|retained_intron||||||||||rs3935066|1186|1||SNV|HGNC|HGNC:24023||||2||||||||||||||0.6474|0.2005|0.7061|0.7083|0.9095|0.8773||||||||||0.7153|0.2952|0.8659|0.7412|0.8821|0.7346|0.9169|0.8228|0.9088|0.7641|0.8679|0.9169|gnomADg_FIN||||29422604||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,16:0.922:16:0,1:0,6:0,10:0|1:965337_CTTAT_C:965337:0,0,6,10 -chr1 965592 . T G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|10%2C11;DP=24;ECNT=4;GERMQ=93;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=22;POPAF=7.3;TLOD=80.81;SRC=custom;GRP=custom;CSQ=G|3_prime_UTR_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding|12/12||ENST00000338591.8:c.*401T>G||2440|||||rs9697711||1||SNV|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0||||||||0.9301|0.9334|0.9179|0.9216|0.9553|0.9172||||||||||0.9407|0.9313|0.9638|0.9353|0.928|0.9246|0.9646|0.9335|0.947|0.9394|0.9214|0.9646|gnomADg_FIN|||||||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,G|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding||||||||||rs9697711|910|1||SNV|HGNC|HGNC:25284||||1|A2|CCDS53256.1|ENSP00000368717|Q494U1.135||UPI00005764FF|Q494U1-3|||||||0.9301|0.9334|0.9179|0.9216|0.9553|0.9172||||||||||0.9407|0.9313|0.9638|0.9353|0.928|0.9246|0.9646|0.9335|0.947|0.9394|0.9214|0.9646|gnomADg_FIN|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,G|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding||||||||||rs9697711|910|1||SNV|HGNC|HGNC:25284||||2|A2|CCDS90835.1|ENSP00000368719|Q494U1.135||UPI0000D61E06|Q494U1-2|||||||0.9301|0.9334|0.9179|0.9216|0.9553|0.9172||||||||||0.9407|0.9313|0.9638|0.9353|0.928|0.9246|0.9646|0.9335|0.947|0.9394|0.9214|0.9646|gnomADg_FIN|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGVWDASRAPRGTPDPGLGEGPALWLRSTCVYVCALSALPAGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,G|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding||||||||||rs9697711|890|1||SNV|HGNC|HGNC:25284|YES|NM_032129.3||1|P4|CCDS4.1|ENSP00000368720|Q494U1.135||UPI00001416D8|Q494U1-1|||||||0.9301|0.9334|0.9179|0.9216|0.9553|0.9172||||||||||0.9407|0.9313|0.9638|0.9353|0.928|0.9246|0.9646|0.9335|0.947|0.9394|0.9214|0.9646|gnomADg_FIN|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,G|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000463212|retained_intron||||||||||rs9697711|3114|1||SNV|HGNC|HGNC:24023||||1||||||||||||||0.9301|0.9334|0.9179|0.9216|0.9553|0.9172||||||||||0.9407|0.9313|0.9638|0.9353|0.928|0.9246|0.9646|0.9335|0.947|0.9394|0.9214|0.9646|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000466300|nonsense_mediated_decay||||||||||rs9697711|1062|1|cds_start_NF|SNV|HGNC|HGNC:24023||||3|||ENSP00000463694||J3QLT4.45|UPI000268AE1E||||||||0.9301|0.9334|0.9179|0.9216|0.9553|0.9172||||||||||0.9407|0.9313|0.9638|0.9353|0.928|0.9246|0.9646|0.9335|0.947|0.9394|0.9214|0.9646|gnomADg_FIN|||||||||||XLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGASPGAWGVAQQWDPLTSPVSTCPPQAAGACLPSTETVRPTTRAPTAGTWWPPCPRAGPGWEWLRWGTGSMLWAAMMGPQTWLPWSPTTP||,G|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000481067|retained_intron||||||||||rs9697711|1428|1||SNV|HGNC|HGNC:24023||||2||||||||||||||0.9301|0.9334|0.9179|0.9216|0.9553|0.9172||||||||||0.9407|0.9313|0.9638|0.9353|0.928|0.9246|0.9646|0.9335|0.947|0.9394|0.9214|0.9646|gnomADg_FIN||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,21:0.927:21:0,1:0,10:0,11:0,0,10,11 -chr1 965592 . T G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|12%2C14;DP=26;ECNT=3;GERMQ=93;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=39;POPAF=7.3;TLOD=96.95;SRC=custom;GRP=custom;CSQ=G|3_prime_UTR_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding|12/12||ENST00000338591.8:c.*401T>G||2440|||||rs9697711||1||SNV|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0||||||||0.9301|0.9334|0.9179|0.9216|0.9553|0.9172||||||||||0.9407|0.9313|0.9638|0.9353|0.928|0.9246|0.9646|0.9335|0.947|0.9394|0.9214|0.9646|gnomADg_FIN|||||||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,G|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding||||||||||rs9697711|910|1||SNV|HGNC|HGNC:25284||||1|A2|CCDS53256.1|ENSP00000368717|Q494U1.135||UPI00005764FF|Q494U1-3|||||||0.9301|0.9334|0.9179|0.9216|0.9553|0.9172||||||||||0.9407|0.9313|0.9638|0.9353|0.928|0.9246|0.9646|0.9335|0.947|0.9394|0.9214|0.9646|gnomADg_FIN|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,G|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding||||||||||rs9697711|910|1||SNV|HGNC|HGNC:25284||||2|A2|CCDS90835.1|ENSP00000368719|Q494U1.135||UPI0000D61E06|Q494U1-2|||||||0.9301|0.9334|0.9179|0.9216|0.9553|0.9172||||||||||0.9407|0.9313|0.9638|0.9353|0.928|0.9246|0.9646|0.9335|0.947|0.9394|0.9214|0.9646|gnomADg_FIN|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGVWDASRAPRGTPDPGLGEGPALWLRSTCVYVCALSALPAGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,G|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding||||||||||rs9697711|890|1||SNV|HGNC|HGNC:25284|YES|NM_032129.3||1|P4|CCDS4.1|ENSP00000368720|Q494U1.135||UPI00001416D8|Q494U1-1|||||||0.9301|0.9334|0.9179|0.9216|0.9553|0.9172||||||||||0.9407|0.9313|0.9638|0.9353|0.928|0.9246|0.9646|0.9335|0.947|0.9394|0.9214|0.9646|gnomADg_FIN|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,G|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000463212|retained_intron||||||||||rs9697711|3114|1||SNV|HGNC|HGNC:24023||||1||||||||||||||0.9301|0.9334|0.9179|0.9216|0.9553|0.9172||||||||||0.9407|0.9313|0.9638|0.9353|0.928|0.9246|0.9646|0.9335|0.947|0.9394|0.9214|0.9646|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000466300|nonsense_mediated_decay||||||||||rs9697711|1062|1|cds_start_NF|SNV|HGNC|HGNC:24023||||3|||ENSP00000463694||J3QLT4.45|UPI000268AE1E||||||||0.9301|0.9334|0.9179|0.9216|0.9553|0.9172||||||||||0.9407|0.9313|0.9638|0.9353|0.928|0.9246|0.9646|0.9335|0.947|0.9394|0.9214|0.9646|gnomADg_FIN|||||||||||XLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGASPGAWGVAQQWDPLTSPVSTCPPQAAGACLPSTETVRPTTRAPTAGTWWPPCPRAGPGWEWLRWGTGSMLWAAMMGPQTWLPWSPTTP||,G|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000481067|retained_intron||||||||||rs9697711|1428|1||SNV|HGNC|HGNC:24023||||2||||||||||||||0.9301|0.9334|0.9179|0.9216|0.9553|0.9172||||||||||0.9407|0.9313|0.9638|0.9353|0.928|0.9246|0.9646|0.9335|0.947|0.9394|0.9214|0.9646|gnomADg_FIN||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,26:0.937:26:0,1:0,12:0,14:0,0,12,14 -chr1 965615 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=10%2C11|1%2C1;DP=23;ECNT=4;GERMQ=74;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=119;POPAF=7.3;TLOD=5.36;SRC=custom;GRP=custom;CSQ=T|3_prime_UTR_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding|12/12||ENST00000338591.8:c.*424C>T||2463|||||rs957800808||1||SNV|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0|||||||||||||||||||||||1.314e-05|2.412e-05|0|6.54e-05|0|0|0|0|0|0|0|6.54e-05|gnomADg_AMR|||||||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,T|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding||||||||||rs957800808|887|1||SNV|HGNC|HGNC:25284||||1|A2|CCDS53256.1|ENSP00000368717|Q494U1.135||UPI00005764FF|Q494U1-3||||||||||||||||||||||1.314e-05|2.412e-05|0|6.54e-05|0|0|0|0|0|0|0|6.54e-05|gnomADg_AMR|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,T|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding||||||||||rs957800808|887|1||SNV|HGNC|HGNC:25284||||2|A2|CCDS90835.1|ENSP00000368719|Q494U1.135||UPI0000D61E06|Q494U1-2||||||||||||||||||||||1.314e-05|2.412e-05|0|6.54e-05|0|0|0|0|0|0|0|6.54e-05|gnomADg_AMR|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGVWDASRAPRGTPDPGLGEGPALWLRSTCVYVCALSALPAGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,T|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding||||||||||rs957800808|867|1||SNV|HGNC|HGNC:25284|YES|NM_032129.3||1|P4|CCDS4.1|ENSP00000368720|Q494U1.135||UPI00001416D8|Q494U1-1||||||||||||||||||||||1.314e-05|2.412e-05|0|6.54e-05|0|0|0|0|0|0|0|6.54e-05|gnomADg_AMR|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,T|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000463212|retained_intron||||||||||rs957800808|3137|1||SNV|HGNC|HGNC:24023||||1|||||||||||||||||||||||||||||1.314e-05|2.412e-05|0|6.54e-05|0|0|0|0|0|0|0|6.54e-05|gnomADg_AMR|||||||||||||,T|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000466300|nonsense_mediated_decay||||||||||rs957800808|1085|1|cds_start_NF|SNV|HGNC|HGNC:24023||||3|||ENSP00000463694||J3QLT4.45|UPI000268AE1E|||||||||||||||||||||||1.314e-05|2.412e-05|0|6.54e-05|0|0|0|0|0|0|0|6.54e-05|gnomADg_AMR|||||||||||XLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGASPGAWGVAQQWDPLTSPVSTCPPQAAGACLPSTETVRPTTRAPTAGTWWPPCPRAGPGWEWLRWGTGSMLWAAMMGPQTWLPWSPTTP||,T|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000481067|retained_intron||||||||||rs957800808|1451|1||SNV|HGNC|HGNC:24023||||2|||||||||||||||||||||||||||||1.314e-05|2.412e-05|0|6.54e-05|0|0|0|0|0|0|0|6.54e-05|gnomADg_AMR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:21,2:0.143:23:1,0:10,1:11,1:10,11,1,1 -chr1 965643 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|10%2C11;DP=21;ECNT=4;GERMQ=93;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=72;POPAF=7.3;TLOD=78.84;SRC=custom;GRP=custom;CSQ=C|3_prime_UTR_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding|12/12||ENST00000338591.8:c.*452T>C||2491|||||rs13303351||1||SNV|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0||||||||0.8866|0.7867|0.8934|0.9196|0.9503|0.9172||||||||||0.9004|0.7975|0.9648|0.9118|0.9277|0.9222|0.9648|0.9304|0.9446|0.9078|0.9215|0.9648|gnomADg_AMI&gnomADg_FIN|||||||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,C|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding||||||||||rs13303351|859|1||SNV|HGNC|HGNC:25284||||1|A2|CCDS53256.1|ENSP00000368717|Q494U1.135||UPI00005764FF|Q494U1-3|||||||0.8866|0.7867|0.8934|0.9196|0.9503|0.9172||||||||||0.9004|0.7975|0.9648|0.9118|0.9277|0.9222|0.9648|0.9304|0.9446|0.9078|0.9215|0.9648|gnomADg_AMI&gnomADg_FIN|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding||||||||||rs13303351|859|1||SNV|HGNC|HGNC:25284||||2|A2|CCDS90835.1|ENSP00000368719|Q494U1.135||UPI0000D61E06|Q494U1-2|||||||0.8866|0.7867|0.8934|0.9196|0.9503|0.9172||||||||||0.9004|0.7975|0.9648|0.9118|0.9277|0.9222|0.9648|0.9304|0.9446|0.9078|0.9215|0.9648|gnomADg_AMI&gnomADg_FIN|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGVWDASRAPRGTPDPGLGEGPALWLRSTCVYVCALSALPAGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding||||||||||rs13303351|839|1||SNV|HGNC|HGNC:25284|YES|NM_032129.3||1|P4|CCDS4.1|ENSP00000368720|Q494U1.135||UPI00001416D8|Q494U1-1|||||||0.8866|0.7867|0.8934|0.9196|0.9503|0.9172||||||||||0.9004|0.7975|0.9648|0.9118|0.9277|0.9222|0.9648|0.9304|0.9446|0.9078|0.9215|0.9648|gnomADg_AMI&gnomADg_FIN|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000463212|retained_intron||||||||||rs13303351|3165|1||SNV|HGNC|HGNC:24023||||1||||||||||||||0.8866|0.7867|0.8934|0.9196|0.9503|0.9172||||||||||0.9004|0.7975|0.9648|0.9118|0.9277|0.9222|0.9648|0.9304|0.9446|0.9078|0.9215|0.9648|gnomADg_AMI&gnomADg_FIN|||||||||||||,C|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000466300|nonsense_mediated_decay||||||||||rs13303351|1113|1|cds_start_NF|SNV|HGNC|HGNC:24023||||3|||ENSP00000463694||J3QLT4.45|UPI000268AE1E||||||||0.8866|0.7867|0.8934|0.9196|0.9503|0.9172||||||||||0.9004|0.7975|0.9648|0.9118|0.9277|0.9222|0.9648|0.9304|0.9446|0.9078|0.9215|0.9648|gnomADg_AMI&gnomADg_FIN|||||||||||XLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGASPGAWGVAQQWDPLTSPVSTCPPQAAGACLPSTETVRPTTRAPTAGTWWPPCPRAGPGWEWLRWGTGSMLWAAMMGPQTWLPWSPTTP||,C|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000481067|retained_intron||||||||||rs13303351|1479|1||SNV|HGNC|HGNC:24023||||2||||||||||||||0.8866|0.7867|0.8934|0.9196|0.9503|0.9172||||||||||0.9004|0.7975|0.9648|0.9118|0.9277|0.9222|0.9648|0.9304|0.9446|0.9078|0.9215|0.9648|gnomADg_AMI&gnomADg_FIN||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,21:0.923:21:0,1:0,10:0,11:0,0,10,11 -chr1 965643 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|11%2C13;DP=26;ECNT=3;GERMQ=93;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=64;POPAF=7.3;TLOD=89.59;SRC=custom;GRP=custom;CSQ=C|3_prime_UTR_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding|12/12||ENST00000338591.8:c.*452T>C||2491|||||rs13303351||1||SNV|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0||||||||0.8866|0.7867|0.8934|0.9196|0.9503|0.9172||||||||||0.9004|0.7975|0.9648|0.9118|0.9277|0.9222|0.9648|0.9304|0.9446|0.9078|0.9215|0.9648|gnomADg_AMI&gnomADg_FIN|||||||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,C|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding||||||||||rs13303351|859|1||SNV|HGNC|HGNC:25284||||1|A2|CCDS53256.1|ENSP00000368717|Q494U1.135||UPI00005764FF|Q494U1-3|||||||0.8866|0.7867|0.8934|0.9196|0.9503|0.9172||||||||||0.9004|0.7975|0.9648|0.9118|0.9277|0.9222|0.9648|0.9304|0.9446|0.9078|0.9215|0.9648|gnomADg_AMI&gnomADg_FIN|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding||||||||||rs13303351|859|1||SNV|HGNC|HGNC:25284||||2|A2|CCDS90835.1|ENSP00000368719|Q494U1.135||UPI0000D61E06|Q494U1-2|||||||0.8866|0.7867|0.8934|0.9196|0.9503|0.9172||||||||||0.9004|0.7975|0.9648|0.9118|0.9277|0.9222|0.9648|0.9304|0.9446|0.9078|0.9215|0.9648|gnomADg_AMI&gnomADg_FIN|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGVWDASRAPRGTPDPGLGEGPALWLRSTCVYVCALSALPAGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding||||||||||rs13303351|839|1||SNV|HGNC|HGNC:25284|YES|NM_032129.3||1|P4|CCDS4.1|ENSP00000368720|Q494U1.135||UPI00001416D8|Q494U1-1|||||||0.8866|0.7867|0.8934|0.9196|0.9503|0.9172||||||||||0.9004|0.7975|0.9648|0.9118|0.9277|0.9222|0.9648|0.9304|0.9446|0.9078|0.9215|0.9648|gnomADg_AMI&gnomADg_FIN|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000463212|retained_intron||||||||||rs13303351|3165|1||SNV|HGNC|HGNC:24023||||1||||||||||||||0.8866|0.7867|0.8934|0.9196|0.9503|0.9172||||||||||0.9004|0.7975|0.9648|0.9118|0.9277|0.9222|0.9648|0.9304|0.9446|0.9078|0.9215|0.9648|gnomADg_AMI&gnomADg_FIN|||||||||||||,C|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000466300|nonsense_mediated_decay||||||||||rs13303351|1113|1|cds_start_NF|SNV|HGNC|HGNC:24023||||3|||ENSP00000463694||J3QLT4.45|UPI000268AE1E||||||||0.8866|0.7867|0.8934|0.9196|0.9503|0.9172||||||||||0.9004|0.7975|0.9648|0.9118|0.9277|0.9222|0.9648|0.9304|0.9446|0.9078|0.9215|0.9648|gnomADg_AMI&gnomADg_FIN|||||||||||XLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGASPGAWGVAQQWDPLTSPVSTCPPQAAGACLPSTETVRPTTRAPTAGTWWPPCPRAGPGWEWLRWGTGSMLWAAMMGPQTWLPWSPTTP||,C|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000481067|retained_intron||||||||||rs13303351|1479|1||SNV|HGNC|HGNC:24023||||2||||||||||||||0.8866|0.7867|0.8934|0.9196|0.9503|0.9172||||||||||0.9004|0.7975|0.9648|0.9118|0.9277|0.9222|0.9648|0.9304|0.9446|0.9078|0.9215|0.9648|gnomADg_AMI&gnomADg_FIN||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,24:0.935:24:0,0:0,11:0,13:0,0,11,13 -chr1 966179 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=4;ECNT=3;GERMQ=46;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=17;POPAF=7.3;TLOD=3.21;SRC=custom;GRP=custom;CSQ=A|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding||||||||||rs13303160|460|1||SNV|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0||||||||0.6516|0.2194|0.7032|0.7123|0.9056|0.8753||||||||||0.718|0.3171|0.867|0.7403|0.8764|0.7355|0.9126|0.8133|0.9026|0.7646|0.8661|0.9126|gnomADg_FIN||||29422604|||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,A|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding||||||||||rs13303160|323|1||SNV|HGNC|HGNC:25284||||1|A2|CCDS53256.1|ENSP00000368717|Q494U1.135||UPI00005764FF|Q494U1-3|||||||0.6516|0.2194|0.7032|0.7123|0.9056|0.8753||||||||||0.718|0.3171|0.867|0.7403|0.8764|0.7355|0.9126|0.8133|0.9026|0.7646|0.8661|0.9126|gnomADg_FIN||||29422604|||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,A|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding||||||||||rs13303160|323|1||SNV|HGNC|HGNC:25284||||2|A2|CCDS90835.1|ENSP00000368719|Q494U1.135||UPI0000D61E06|Q494U1-2|||||||0.6516|0.2194|0.7032|0.7123|0.9056|0.8753||||||||||0.718|0.3171|0.867|0.7403|0.8764|0.7355|0.9126|0.8133|0.9026|0.7646|0.8661|0.9126|gnomADg_FIN||||29422604|||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGVWDASRAPRGTPDPGLGEGPALWLRSTCVYVCALSALPAGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,A|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding||||||||||rs13303160|303|1||SNV|HGNC|HGNC:25284|YES|NM_032129.3||1|P4|CCDS4.1|ENSP00000368720|Q494U1.135||UPI00001416D8|Q494U1-1|||||||0.6516|0.2194|0.7032|0.7123|0.9056|0.8753||||||||||0.718|0.3171|0.867|0.7403|0.8764|0.7355|0.9126|0.8133|0.9026|0.7646|0.8661|0.9126|gnomADg_FIN||||29422604|||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,A|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000463212|retained_intron||||||||||rs13303160|3701|1||SNV|HGNC|HGNC:24023||||1||||||||||||||0.6516|0.2194|0.7032|0.7123|0.9056|0.8753||||||||||0.718|0.3171|0.867|0.7403|0.8764|0.7355|0.9126|0.8133|0.9026|0.7646|0.8661|0.9126|gnomADg_FIN||||29422604|||||||||,A|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000466300|nonsense_mediated_decay||||||||||rs13303160|1649|1|cds_start_NF|SNV|HGNC|HGNC:24023||||3|||ENSP00000463694||J3QLT4.45|UPI000268AE1E||||||||0.6516|0.2194|0.7032|0.7123|0.9056|0.8753||||||||||0.718|0.3171|0.867|0.7403|0.8764|0.7355|0.9126|0.8133|0.9026|0.7646|0.8661|0.9126|gnomADg_FIN||||29422604|||||||XLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGASPGAWGVAQQWDPLTSPVSTCPPQAAGACLPSTETVRPTTRAPTAGTWWPPCPRAGPGWEWLRWGTGSMLWAAMMGPQTWLPWSPTTP||,A|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000480267|retained_intron||||||||||rs13303160|4696|1||SNV|HGNC|HGNC:25284||||3||||||||||||||0.6516|0.2194|0.7032|0.7123|0.9056|0.8753||||||||||0.718|0.3171|0.867|0.7403|0.8764|0.7355|0.9126|0.8133|0.9026|0.7646|0.8661|0.9126|gnomADg_FIN||||29422604|||||||||,A|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000481067|retained_intron||||||||||rs13303160|2015|1||SNV|HGNC|HGNC:24023||||2||||||||||||||0.6516|0.2194|0.7032|0.7123|0.9056|0.8753||||||||||0.718|0.3171|0.867|0.7403|0.8764|0.7355|0.9126|0.8133|0.9026|0.7646|0.8661|0.9126|gnomADg_FIN||||29422604|||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000112|promoter||||||||||rs13303160||||SNV||||||||||||||||||||0.6516|0.2194|0.7032|0.7123|0.9056|0.8753||||||||||0.718|0.3171|0.867|0.7403|0.8764|0.7355|0.9126|0.8133|0.9026|0.7646|0.8661|0.9126|gnomADg_FIN||||29422604||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.684:2:0,0:0,1:0,1:0,0,1,1 -chr1 966179 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C4;DP=7;ECNT=3;GERMQ=61;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=73;POPAF=7.3;TLOD=25.26;SRC=custom;GRP=custom;CSQ=A|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding||||||||||rs13303160|460|1||SNV|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0||||||||0.6516|0.2194|0.7032|0.7123|0.9056|0.8753||||||||||0.718|0.3171|0.867|0.7403|0.8764|0.7355|0.9126|0.8133|0.9026|0.7646|0.8661|0.9126|gnomADg_FIN||||29422604|||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,A|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding||||||||||rs13303160|323|1||SNV|HGNC|HGNC:25284||||1|A2|CCDS53256.1|ENSP00000368717|Q494U1.135||UPI00005764FF|Q494U1-3|||||||0.6516|0.2194|0.7032|0.7123|0.9056|0.8753||||||||||0.718|0.3171|0.867|0.7403|0.8764|0.7355|0.9126|0.8133|0.9026|0.7646|0.8661|0.9126|gnomADg_FIN||||29422604|||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,A|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding||||||||||rs13303160|323|1||SNV|HGNC|HGNC:25284||||2|A2|CCDS90835.1|ENSP00000368719|Q494U1.135||UPI0000D61E06|Q494U1-2|||||||0.6516|0.2194|0.7032|0.7123|0.9056|0.8753||||||||||0.718|0.3171|0.867|0.7403|0.8764|0.7355|0.9126|0.8133|0.9026|0.7646|0.8661|0.9126|gnomADg_FIN||||29422604|||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGVWDASRAPRGTPDPGLGEGPALWLRSTCVYVCALSALPAGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,A|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding||||||||||rs13303160|303|1||SNV|HGNC|HGNC:25284|YES|NM_032129.3||1|P4|CCDS4.1|ENSP00000368720|Q494U1.135||UPI00001416D8|Q494U1-1|||||||0.6516|0.2194|0.7032|0.7123|0.9056|0.8753||||||||||0.718|0.3171|0.867|0.7403|0.8764|0.7355|0.9126|0.8133|0.9026|0.7646|0.8661|0.9126|gnomADg_FIN||||29422604|||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,A|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000463212|retained_intron||||||||||rs13303160|3701|1||SNV|HGNC|HGNC:24023||||1||||||||||||||0.6516|0.2194|0.7032|0.7123|0.9056|0.8753||||||||||0.718|0.3171|0.867|0.7403|0.8764|0.7355|0.9126|0.8133|0.9026|0.7646|0.8661|0.9126|gnomADg_FIN||||29422604|||||||||,A|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000466300|nonsense_mediated_decay||||||||||rs13303160|1649|1|cds_start_NF|SNV|HGNC|HGNC:24023||||3|||ENSP00000463694||J3QLT4.45|UPI000268AE1E||||||||0.6516|0.2194|0.7032|0.7123|0.9056|0.8753||||||||||0.718|0.3171|0.867|0.7403|0.8764|0.7355|0.9126|0.8133|0.9026|0.7646|0.8661|0.9126|gnomADg_FIN||||29422604|||||||XLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGASPGAWGVAQQWDPLTSPVSTCPPQAAGACLPSTETVRPTTRAPTAGTWWPPCPRAGPGWEWLRWGTGSMLWAAMMGPQTWLPWSPTTP||,A|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000480267|retained_intron||||||||||rs13303160|4696|1||SNV|HGNC|HGNC:25284||||3||||||||||||||0.6516|0.2194|0.7032|0.7123|0.9056|0.8753||||||||||0.718|0.3171|0.867|0.7403|0.8764|0.7355|0.9126|0.8133|0.9026|0.7646|0.8661|0.9126|gnomADg_FIN||||29422604|||||||||,A|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000481067|retained_intron||||||||||rs13303160|2015|1||SNV|HGNC|HGNC:24023||||2||||||||||||||0.6516|0.2194|0.7032|0.7123|0.9056|0.8753||||||||||0.718|0.3171|0.867|0.7403|0.8764|0.7355|0.9126|0.8133|0.9026|0.7646|0.8661|0.9126|gnomADg_FIN||||29422604|||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000112|promoter||||||||||rs13303160||||SNV||||||||||||||||||||0.6516|0.2194|0.7032|0.7123|0.9056|0.8753||||||||||0.718|0.3171|0.867|0.7403|0.8764|0.7355|0.9126|0.8133|0.9026|0.7646|0.8661|0.9126|gnomADg_FIN||||29422604||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,7:0.857:7:0,2:0,3:0,5:0,0,3,4 -chr1 966227 . C G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=3;GERMQ=52;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=69;POPAF=7.3;TLOD=14.43;SRC=custom;GRP=custom;CSQ=G|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding||||||||||rs13302996|508|1||SNV|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0||||||||0.8239|0.5567|0.8847|0.9187|0.9473|0.9172||||||||||0.8408|0.6133|0.8816|0.8954|0.9116|0.9227|0.9402|0.9082|0.9342|0.8702|0.9201|0.9473|EUR|||||||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,G|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding||||||||||rs13302996|275|1||SNV|HGNC|HGNC:25284||||1|A2|CCDS53256.1|ENSP00000368717|Q494U1.135||UPI00005764FF|Q494U1-3|||||||0.8239|0.5567|0.8847|0.9187|0.9473|0.9172||||||||||0.8408|0.6133|0.8816|0.8954|0.9116|0.9227|0.9402|0.9082|0.9342|0.8702|0.9201|0.9473|EUR|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,G|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding||||||||||rs13302996|275|1||SNV|HGNC|HGNC:25284||||2|A2|CCDS90835.1|ENSP00000368719|Q494U1.135||UPI0000D61E06|Q494U1-2|||||||0.8239|0.5567|0.8847|0.9187|0.9473|0.9172||||||||||0.8408|0.6133|0.8816|0.8954|0.9116|0.9227|0.9402|0.9082|0.9342|0.8702|0.9201|0.9473|EUR|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGVWDASRAPRGTPDPGLGEGPALWLRSTCVYVCALSALPAGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,G|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding||||||||||rs13302996|255|1||SNV|HGNC|HGNC:25284|YES|NM_032129.3||1|P4|CCDS4.1|ENSP00000368720|Q494U1.135||UPI00001416D8|Q494U1-1|||||||0.8239|0.5567|0.8847|0.9187|0.9473|0.9172||||||||||0.8408|0.6133|0.8816|0.8954|0.9116|0.9227|0.9402|0.9082|0.9342|0.8702|0.9201|0.9473|EUR|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,G|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000463212|retained_intron||||||||||rs13302996|3749|1||SNV|HGNC|HGNC:24023||||1||||||||||||||0.8239|0.5567|0.8847|0.9187|0.9473|0.9172||||||||||0.8408|0.6133|0.8816|0.8954|0.9116|0.9227|0.9402|0.9082|0.9342|0.8702|0.9201|0.9473|EUR|||||||||||||,G|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000466300|nonsense_mediated_decay||||||||||rs13302996|1697|1|cds_start_NF|SNV|HGNC|HGNC:24023||||3|||ENSP00000463694||J3QLT4.45|UPI000268AE1E||||||||0.8239|0.5567|0.8847|0.9187|0.9473|0.9172||||||||||0.8408|0.6133|0.8816|0.8954|0.9116|0.9227|0.9402|0.9082|0.9342|0.8702|0.9201|0.9473|EUR|||||||||||XLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGASPGAWGVAQQWDPLTSPVSTCPPQAAGACLPSTETVRPTTRAPTAGTWWPPCPRAGPGWEWLRWGTGSMLWAAMMGPQTWLPWSPTTP||,G|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000480267|retained_intron||||||||||rs13302996|4648|1||SNV|HGNC|HGNC:25284||||3||||||||||||||0.8239|0.5567|0.8847|0.9187|0.9473|0.9172||||||||||0.8408|0.6133|0.8816|0.8954|0.9116|0.9227|0.9402|0.9082|0.9342|0.8702|0.9201|0.9473|EUR|||||||||||||,G|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000481067|retained_intron||||||||||rs13302996|2063|1||SNV|HGNC|HGNC:24023||||2||||||||||||||0.8239|0.5567|0.8847|0.9187|0.9473|0.9172||||||||||0.8408|0.6133|0.8816|0.8954|0.9116|0.9227|0.9402|0.9082|0.9342|0.8702|0.9201|0.9473|EUR|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000112|promoter||||||||||rs13302996||||SNV||||||||||||||||||||0.8239|0.5567|0.8847|0.9187|0.9473|0.9172||||||||||0.8408|0.6133|0.8816|0.8954|0.9116|0.9227|0.9402|0.9082|0.9342|0.8702|0.9201|0.9473|EUR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 966227 . C G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C4;DP=7;ECNT=3;GERMQ=61;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=66;POPAF=7.3;TLOD=25.84;SRC=custom;GRP=custom;CSQ=G|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding||||||||||rs13302996|508|1||SNV|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0||||||||0.8239|0.5567|0.8847|0.9187|0.9473|0.9172||||||||||0.8408|0.6133|0.8816|0.8954|0.9116|0.9227|0.9402|0.9082|0.9342|0.8702|0.9201|0.9473|EUR|||||||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,G|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding||||||||||rs13302996|275|1||SNV|HGNC|HGNC:25284||||1|A2|CCDS53256.1|ENSP00000368717|Q494U1.135||UPI00005764FF|Q494U1-3|||||||0.8239|0.5567|0.8847|0.9187|0.9473|0.9172||||||||||0.8408|0.6133|0.8816|0.8954|0.9116|0.9227|0.9402|0.9082|0.9342|0.8702|0.9201|0.9473|EUR|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,G|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding||||||||||rs13302996|275|1||SNV|HGNC|HGNC:25284||||2|A2|CCDS90835.1|ENSP00000368719|Q494U1.135||UPI0000D61E06|Q494U1-2|||||||0.8239|0.5567|0.8847|0.9187|0.9473|0.9172||||||||||0.8408|0.6133|0.8816|0.8954|0.9116|0.9227|0.9402|0.9082|0.9342|0.8702|0.9201|0.9473|EUR|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGVWDASRAPRGTPDPGLGEGPALWLRSTCVYVCALSALPAGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,G|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding||||||||||rs13302996|255|1||SNV|HGNC|HGNC:25284|YES|NM_032129.3||1|P4|CCDS4.1|ENSP00000368720|Q494U1.135||UPI00001416D8|Q494U1-1|||||||0.8239|0.5567|0.8847|0.9187|0.9473|0.9172||||||||||0.8408|0.6133|0.8816|0.8954|0.9116|0.9227|0.9402|0.9082|0.9342|0.8702|0.9201|0.9473|EUR|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,G|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000463212|retained_intron||||||||||rs13302996|3749|1||SNV|HGNC|HGNC:24023||||1||||||||||||||0.8239|0.5567|0.8847|0.9187|0.9473|0.9172||||||||||0.8408|0.6133|0.8816|0.8954|0.9116|0.9227|0.9402|0.9082|0.9342|0.8702|0.9201|0.9473|EUR|||||||||||||,G|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000466300|nonsense_mediated_decay||||||||||rs13302996|1697|1|cds_start_NF|SNV|HGNC|HGNC:24023||||3|||ENSP00000463694||J3QLT4.45|UPI000268AE1E||||||||0.8239|0.5567|0.8847|0.9187|0.9473|0.9172||||||||||0.8408|0.6133|0.8816|0.8954|0.9116|0.9227|0.9402|0.9082|0.9342|0.8702|0.9201|0.9473|EUR|||||||||||XLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGASPGAWGVAQQWDPLTSPVSTCPPQAAGACLPSTETVRPTTRAPTAGTWWPPCPRAGPGWEWLRWGTGSMLWAAMMGPQTWLPWSPTTP||,G|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000480267|retained_intron||||||||||rs13302996|4648|1||SNV|HGNC|HGNC:25284||||3||||||||||||||0.8239|0.5567|0.8847|0.9187|0.9473|0.9172||||||||||0.8408|0.6133|0.8816|0.8954|0.9116|0.9227|0.9402|0.9082|0.9342|0.8702|0.9201|0.9473|EUR|||||||||||||,G|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000481067|retained_intron||||||||||rs13302996|2063|1||SNV|HGNC|HGNC:24023||||2||||||||||||||0.8239|0.5567|0.8847|0.9187|0.9473|0.9172||||||||||0.8408|0.6133|0.8816|0.8954|0.9116|0.9227|0.9402|0.9082|0.9342|0.8702|0.9201|0.9473|EUR|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000112|promoter||||||||||rs13302996||||SNV||||||||||||||||||||0.8239|0.5567|0.8847|0.9187|0.9473|0.9172||||||||||0.8408|0.6133|0.8816|0.8954|0.9116|0.9227|0.9402|0.9082|0.9342|0.8702|0.9201|0.9473|EUR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,7:0.833:7:0,1:0,3:0,4:0,0,3,4 -chr1 966272 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=3;GERMQ=52;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=24;POPAF=7.3;TLOD=14.83;SRC=custom;GRP=custom;CSQ=G|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding||||||||||rs2879814|553|1||SNV|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,G|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding||||||||||rs2879814|230|1||SNV|HGNC|HGNC:25284||||1|A2|CCDS53256.1|ENSP00000368717|Q494U1.135||UPI00005764FF|Q494U1-3|||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,G|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding||||||||||rs2879814|230|1||SNV|HGNC|HGNC:25284||||2|A2|CCDS90835.1|ENSP00000368719|Q494U1.135||UPI0000D61E06|Q494U1-2|||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGVWDASRAPRGTPDPGLGEGPALWLRSTCVYVCALSALPAGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,G|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding||||||||||rs2879814|210|1||SNV|HGNC|HGNC:25284|YES|NM_032129.3||1|P4|CCDS4.1|ENSP00000368720|Q494U1.135||UPI00001416D8|Q494U1-1|||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,G|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000463212|retained_intron||||||||||rs2879814|3794|1||SNV|HGNC|HGNC:24023||||1||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000466300|nonsense_mediated_decay||||||||||rs2879814|1742|1|cds_start_NF|SNV|HGNC|HGNC:24023||||3|||ENSP00000463694||J3QLT4.45|UPI000268AE1E||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||XLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGASPGAWGVAQQWDPLTSPVSTCPPQAAGACLPSTETVRPTTRAPTAGTWWPPCPRAGPGWEWLRWGTGSMLWAAMMGPQTWLPWSPTTP||,G|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000480267|retained_intron||||||||||rs2879814|4603|1||SNV|HGNC|HGNC:25284||||3||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000481067|retained_intron||||||||||rs2879814|2108|1||SNV|HGNC|HGNC:24023||||2||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000112|promoter||||||||||rs2879814||||SNV||||||||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 966272 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C3;DP=5;ECNT=3;GERMQ=55;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=74;POPAF=7.3;TLOD=18.78;SRC=custom;GRP=custom;CSQ=G|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding||||||||||rs2879814|553|1||SNV|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,G|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding||||||||||rs2879814|230|1||SNV|HGNC|HGNC:25284||||1|A2|CCDS53256.1|ENSP00000368717|Q494U1.135||UPI00005764FF|Q494U1-3|||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,G|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding||||||||||rs2879814|230|1||SNV|HGNC|HGNC:25284||||2|A2|CCDS90835.1|ENSP00000368719|Q494U1.135||UPI0000D61E06|Q494U1-2|||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGVWDASRAPRGTPDPGLGEGPALWLRSTCVYVCALSALPAGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,G|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding||||||||||rs2879814|210|1||SNV|HGNC|HGNC:25284|YES|NM_032129.3||1|P4|CCDS4.1|ENSP00000368720|Q494U1.135||UPI00001416D8|Q494U1-1|||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,G|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000463212|retained_intron||||||||||rs2879814|3794|1||SNV|HGNC|HGNC:24023||||1||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000466300|nonsense_mediated_decay||||||||||rs2879814|1742|1|cds_start_NF|SNV|HGNC|HGNC:24023||||3|||ENSP00000463694||J3QLT4.45|UPI000268AE1E||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||XLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGASPGAWGVAQQWDPLTSPVSTCPPQAAGACLPSTETVRPTTRAPTAGTWWPPCPRAGPGWEWLRWGTGSMLWAAMMGPQTWLPWSPTTP||,G|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000480267|retained_intron||||||||||rs2879814|4603|1||SNV|HGNC|HGNC:25284||||3||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000481067|retained_intron||||||||||rs2879814|2108|1||SNV|HGNC|HGNC:24023||||2||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000112|promoter||||||||||rs2879814||||SNV||||||||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.8:5:0,1:0,2:0,3:0,0,2,3 -chr1 966665 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=2;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=113;POPAF=7.3;TLOD=7.45;SRC=custom;GRP=custom;CSQ=C|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding||||||||||rs1451964872|946|1||SNV|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0|||||||||||||||||||||||1.973e-05|0|0|0|0|0|0|0|4.412e-05|0|0|4.412e-05|gnomADg_NFE|||||||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,C|intron_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding||1/14|ENST00000379407.7:c.84-39T>C|||||||rs1451964872||1||SNV|HGNC|HGNC:25284||||1|A2|CCDS53256.1|ENSP00000368717|Q494U1.135||UPI00005764FF|Q494U1-3||||||||||||||||||||||1.973e-05|0|0|0|0|0|0|0|4.412e-05|0|0|4.412e-05|gnomADg_NFE|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|intron_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding||1/14|ENST00000379409.6:c.84-39T>C|||||||rs1451964872||1||SNV|HGNC|HGNC:25284||||2|A2|CCDS90835.1|ENSP00000368719|Q494U1.135||UPI0000D61E06|Q494U1-2||||||||||||||||||||||1.973e-05|0|0|0|0|0|0|0|4.412e-05|0|0|4.412e-05|gnomADg_NFE|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGVWDASRAPRGTPDPGLGEGPALWLRSTCVYVCALSALPAGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|intron_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding||1/15|ENST00000379410.8:c.84-39T>C|||||||rs1451964872||1||SNV|HGNC|HGNC:25284|YES|NM_032129.3||1|P4|CCDS4.1|ENSP00000368720|Q494U1.135||UPI00001416D8|Q494U1-1||||||||||||||||||||||1.973e-05|0|0|0|0|0|0|0|4.412e-05|0|0|4.412e-05|gnomADg_NFE|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000463212|retained_intron||||||||||rs1451964872|4187|1||SNV|HGNC|HGNC:24023||||1|||||||||||||||||||||||||||||1.973e-05|0|0|0|0|0|0|0|4.412e-05|0|0|4.412e-05|gnomADg_NFE|||||||||||||,C|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000466300|nonsense_mediated_decay||||||||||rs1451964872|2135|1|cds_start_NF|SNV|HGNC|HGNC:24023||||3|||ENSP00000463694||J3QLT4.45|UPI000268AE1E|||||||||||||||||||||||1.973e-05|0|0|0|0|0|0|0|4.412e-05|0|0|4.412e-05|gnomADg_NFE|||||||||||XLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGASPGAWGVAQQWDPLTSPVSTCPPQAAGACLPSTETVRPTTRAPTAGTWWPPCPRAGPGWEWLRWGTGSMLWAAMMGPQTWLPWSPTTP||,C|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000480267|retained_intron||||||||||rs1451964872|4210|1||SNV|HGNC|HGNC:25284||||3|||||||||||||||||||||||||||||1.973e-05|0|0|0|0|0|0|0|4.412e-05|0|0|4.412e-05|gnomADg_NFE|||||||||||||,C|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000481067|retained_intron||||||||||rs1451964872|2501|1||SNV|HGNC|HGNC:24023||||2|||||||||||||||||||||||||||||1.973e-05|0|0|0|0|0|0|0|4.412e-05|0|0|4.412e-05|gnomADg_NFE|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000112|promoter||||||||||rs1451964872||||SNV|||||||||||||||||||||||||||||||||||1.973e-05|0|0|0|0|0|0|0|4.412e-05|0|0|4.412e-05|gnomADg_NFE|||||||||||||,C|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00201882449|||||||||||rs1451964872||-1||SNV|||||||||||||||||||||||||||||||||||1.973e-05|0|0|0|0|0|0|0|4.412e-05|0|0|4.412e-05|gnomADg_NFE|||||ENSPFM0392|7|Y|-0.093|MYBL1::ELF1|||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 966770 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C1;DP=4;ECNT=2;GERMQ=37;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=124;POPAF=7.3;TLOD=6.66;SRC=custom;GRP=custom;CSQ=T|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding||||||||||rs373345786|1051|1||SNV|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0||||||||||||||1.166e-05|0|0|0|0|0|0|0|8.045e-05||||||||||||8.045e-05|gnomADe_SAS|||||||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,T|synonymous_variant|LOW|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding|2/15||ENST00000379407.7:c.150C>T|ENSP00000368717.2:p.Ala50%3D|180|150|50|A|gcC/gcT|rs373345786||1||SNV|HGNC|HGNC:25284||||1|A2|CCDS53256.1|ENSP00000368717|Q494U1.135||UPI00005764FF|Q494U1-3|||||||||||||1.166e-05|0|0|0|0|0|0|0|8.045e-05||||||||||||8.045e-05|gnomADe_SAS|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,T|synonymous_variant|LOW|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding|2/15||ENST00000379409.6:c.150C>T|ENSP00000368719.2:p.Ala50%3D|180|150|50|A|gcC/gcT|rs373345786||1||SNV|HGNC|HGNC:25284||||2|A2|CCDS90835.1|ENSP00000368719|Q494U1.135||UPI0000D61E06|Q494U1-2|||||||||||||1.166e-05|0|0|0|0|0|0|0|8.045e-05||||||||||||8.045e-05|gnomADe_SAS|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGVWDASRAPRGTPDPGLGEGPALWLRSTCVYVCALSALPAGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,T|synonymous_variant|LOW|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding|2/16||ENST00000379410.8:c.150C>T|ENSP00000368720.3:p.Ala50%3D|200|150|50|A|gcC/gcT|rs373345786||1||SNV|HGNC|HGNC:25284|YES|NM_032129.3||1|P4|CCDS4.1|ENSP00000368720|Q494U1.135||UPI00001416D8|Q494U1-1|||||||||||||1.166e-05|0|0|0|0|0|0|0|8.045e-05||||||||||||8.045e-05|gnomADe_SAS|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,T|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000463212|retained_intron||||||||||rs373345786|4292|1||SNV|HGNC|HGNC:24023||||1||||||||||||||||||||1.166e-05|0|0|0|0|0|0|0|8.045e-05||||||||||||8.045e-05|gnomADe_SAS|||||||||||||,T|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000466300|nonsense_mediated_decay||||||||||rs373345786|2240|1|cds_start_NF|SNV|HGNC|HGNC:24023||||3|||ENSP00000463694||J3QLT4.45|UPI000268AE1E||||||||||||||1.166e-05|0|0|0|0|0|0|0|8.045e-05||||||||||||8.045e-05|gnomADe_SAS|||||||||||XLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGASPGAWGVAQQWDPLTSPVSTCPPQAAGACLPSTETVRPTTRAPTAGTWWPPCPRAGPGWEWLRWGTGSMLWAAMMGPQTWLPWSPTTP||,T|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000480267|retained_intron||||||||||rs373345786|4105|1||SNV|HGNC|HGNC:25284||||3||||||||||||||||||||1.166e-05|0|0|0|0|0|0|0|8.045e-05||||||||||||8.045e-05|gnomADe_SAS|||||||||||||,T|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000481067|retained_intron||||||||||rs373345786|2606|1||SNV|HGNC|HGNC:24023||||2||||||||||||||||||||1.166e-05|0|0|0|0|0|0|0|8.045e-05||||||||||||8.045e-05|gnomADe_SAS|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000112|promoter||||||||||rs373345786||||SNV||||||||||||||||||||||||||1.166e-05|0|0|0|0|0|0|0|8.045e-05||||||||||||8.045e-05|gnomADe_SAS|||||||||||||,T|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00042468395|||||||||||rs373345786||-1||SNV||||||||||||||||||||||||||1.166e-05|0|0|0|0|0|0|0|8.045e-05||||||||||||8.045e-05|gnomADe_SAS|||||ENSPFM0114|8|Y|-0.164|ETV2::FOXI1&ELK1::FOXI1&ERF::FOXI1&FOXO1::ELF1&FOXO1::ELK1&FLI1::FOXI1&ETV5::FOXI1|||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.5:4:0,0:1,1:1,1:1,1,1,1 -chr1 967384 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C1;DP=4;ECNT=2;GERMQ=52;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=53;POPAF=7.3;TLOD=17.4;SRC=custom;GRP=custom;CSQ=G|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding||||||||||rs80125161|1665|1||SNV|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0||||||||0.4583|0.0817|0.4914|0.621|0.6471|0.5818||||||||||0.4903|0.156|0.5044|0.5239|0.5522|0.6508|0.6385|0.5387|0.6402|0.5111|0.5878|0.6508|gnomADg_EAS|||||||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,G|intron_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding||2/14|ENST00000379407.7:c.183+581C>G|||||||rs80125161||1||SNV|HGNC|HGNC:25284||||1|A2|CCDS53256.1|ENSP00000368717|Q494U1.135||UPI00005764FF|Q494U1-3|||||||0.4583|0.0817|0.4914|0.621|0.6471|0.5818||||||||||0.4903|0.156|0.5044|0.5239|0.5522|0.6508|0.6385|0.5387|0.6402|0.5111|0.5878|0.6508|gnomADg_EAS|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,G|intron_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding||2/14|ENST00000379409.6:c.183+581C>G|||||||rs80125161||1||SNV|HGNC|HGNC:25284||||2|A2|CCDS90835.1|ENSP00000368719|Q494U1.135||UPI0000D61E06|Q494U1-2|||||||0.4583|0.0817|0.4914|0.621|0.6471|0.5818||||||||||0.4903|0.156|0.5044|0.5239|0.5522|0.6508|0.6385|0.5387|0.6402|0.5111|0.5878|0.6508|gnomADg_EAS|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGVWDASRAPRGTPDPGLGEGPALWLRSTCVYVCALSALPAGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,G|intron_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding||2/15|ENST00000379410.8:c.183+581C>G|||||||rs80125161||1||SNV|HGNC|HGNC:25284|YES|NM_032129.3||1|P4|CCDS4.1|ENSP00000368720|Q494U1.135||UPI00001416D8|Q494U1-1|||||||0.4583|0.0817|0.4914|0.621|0.6471|0.5818||||||||||0.4903|0.156|0.5044|0.5239|0.5522|0.6508|0.6385|0.5387|0.6402|0.5111|0.5878|0.6508|gnomADg_EAS|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,G|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000463212|retained_intron||||||||||rs80125161|4906|1||SNV|HGNC|HGNC:24023||||1||||||||||||||0.4583|0.0817|0.4914|0.621|0.6471|0.5818||||||||||0.4903|0.156|0.5044|0.5239|0.5522|0.6508|0.6385|0.5387|0.6402|0.5111|0.5878|0.6508|gnomADg_EAS|||||||||||||,G|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000466300|nonsense_mediated_decay||||||||||rs80125161|2854|1|cds_start_NF|SNV|HGNC|HGNC:24023||||3|||ENSP00000463694||J3QLT4.45|UPI000268AE1E||||||||0.4583|0.0817|0.4914|0.621|0.6471|0.5818||||||||||0.4903|0.156|0.5044|0.5239|0.5522|0.6508|0.6385|0.5387|0.6402|0.5111|0.5878|0.6508|gnomADg_EAS|||||||||||XLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGASPGAWGVAQQWDPLTSPVSTCPPQAAGACLPSTETVRPTTRAPTAGTWWPPCPRAGPGWEWLRWGTGSMLWAAMMGPQTWLPWSPTTP||,G|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000480267|retained_intron||||||||||rs80125161|3491|1||SNV|HGNC|HGNC:25284||||3||||||||||||||0.4583|0.0817|0.4914|0.621|0.6471|0.5818||||||||||0.4903|0.156|0.5044|0.5239|0.5522|0.6508|0.6385|0.5387|0.6402|0.5111|0.5878|0.6508|gnomADg_EAS|||||||||||||,G|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000481067|retained_intron||||||||||rs80125161|3220|1||SNV|HGNC|HGNC:24023||||2||||||||||||||0.4583|0.0817|0.4914|0.621|0.6471|0.5818||||||||||0.4903|0.156|0.5044|0.5239|0.5522|0.6508|0.6385|0.5387|0.6402|0.5111|0.5878|0.6508|gnomADg_EAS|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000112|promoter||||||||||rs80125161||||SNV||||||||||||||||||||0.4583|0.0817|0.4914|0.621|0.6471|0.5818||||||||||0.4903|0.156|0.5044|0.5239|0.5522|0.6508|0.6385|0.5387|0.6402|0.5111|0.5878|0.6508|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,4:0.8:4:0,0:0,3:0,3:0|1:967376_AC_A:967376:0,0,3,1 -chr1 967617 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=74;POPAF=7.3;TLOD=7.15;SRC=custom;GRP=custom;CSQ=A|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding||||||||||rs7524174|1898|1||SNV|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0||||||||0.7222|0.534|0.745|0.6806|0.8668|0.8548||||||||||0.7642|0.5562|0.8388|0.77|0.8462|0.7035|0.864|0.7771|0.8665|0.7958|0.8457|0.8668|EUR||||29422604|||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,A|intron_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding||2/14|ENST00000379407.7:c.183+814G>A|||||||rs7524174||1||SNV|HGNC|HGNC:25284||||1|A2|CCDS53256.1|ENSP00000368717|Q494U1.135||UPI00005764FF|Q494U1-3|||||||0.7222|0.534|0.745|0.6806|0.8668|0.8548||||||||||0.7642|0.5562|0.8388|0.77|0.8462|0.7035|0.864|0.7771|0.8665|0.7958|0.8457|0.8668|EUR||||29422604|||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,A|intron_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding||2/14|ENST00000379409.6:c.183+814G>A|||||||rs7524174||1||SNV|HGNC|HGNC:25284||||2|A2|CCDS90835.1|ENSP00000368719|Q494U1.135||UPI0000D61E06|Q494U1-2|||||||0.7222|0.534|0.745|0.6806|0.8668|0.8548||||||||||0.7642|0.5562|0.8388|0.77|0.8462|0.7035|0.864|0.7771|0.8665|0.7958|0.8457|0.8668|EUR||||29422604|||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGVWDASRAPRGTPDPGLGEGPALWLRSTCVYVCALSALPAGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,A|intron_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding||2/15|ENST00000379410.8:c.183+814G>A|||||||rs7524174||1||SNV|HGNC|HGNC:25284|YES|NM_032129.3||1|P4|CCDS4.1|ENSP00000368720|Q494U1.135||UPI00001416D8|Q494U1-1|||||||0.7222|0.534|0.745|0.6806|0.8668|0.8548||||||||||0.7642|0.5562|0.8388|0.77|0.8462|0.7035|0.864|0.7771|0.8665|0.7958|0.8457|0.8668|EUR||||29422604|||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,A|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000466300|nonsense_mediated_decay||||||||||rs7524174|3087|1|cds_start_NF|SNV|HGNC|HGNC:24023||||3|||ENSP00000463694||J3QLT4.45|UPI000268AE1E||||||||0.7222|0.534|0.745|0.6806|0.8668|0.8548||||||||||0.7642|0.5562|0.8388|0.77|0.8462|0.7035|0.864|0.7771|0.8665|0.7958|0.8457|0.8668|EUR||||29422604|||||||XLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGASPGAWGVAQQWDPLTSPVSTCPPQAAGACLPSTETVRPTTRAPTAGTWWPPCPRAGPGWEWLRWGTGSMLWAAMMGPQTWLPWSPTTP||,A|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000480267|retained_intron||||||||||rs7524174|3258|1||SNV|HGNC|HGNC:25284||||3||||||||||||||0.7222|0.534|0.745|0.6806|0.8668|0.8548||||||||||0.7642|0.5562|0.8388|0.77|0.8462|0.7035|0.864|0.7771|0.8665|0.7958|0.8457|0.8668|EUR||||29422604|||||||||,A|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000481067|retained_intron||||||||||rs7524174|3453|1||SNV|HGNC|HGNC:24023||||2||||||||||||||0.7222|0.534|0.745|0.6806|0.8668|0.8548||||||||||0.7642|0.5562|0.8388|0.77|0.8462|0.7035|0.864|0.7771|0.8665|0.7958|0.8457|0.8668|EUR||||29422604||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 967865 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C0|1%2C1;DP=3;ECNT=2;GERMQ=38;MBQ=34,34;MFRL=0,0;MMQ=60,60;MPOS=56;POPAF=7.3;TLOD=6.98;SRC=custom;GRP=custom;CSQ=G|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding||||||||||rs28690976|2146|1||SNV|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0||||||||0.4393|0.0802|0.4798|0.624|0.5457|0.5961||||||||||0.4385|0.1401|0.3901|0.5098|0.5432|0.648|0.5071|0.5222|0.5605|0.4501|0.6013|0.648|gnomADg_EAS|||||||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,G|intron_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding||2/14|ENST00000379407.7:c.183+1062A>G|||||||rs28690976||1||SNV|HGNC|HGNC:25284||||1|A2|CCDS53256.1|ENSP00000368717|Q494U1.135||UPI00005764FF|Q494U1-3|||||||0.4393|0.0802|0.4798|0.624|0.5457|0.5961||||||||||0.4385|0.1401|0.3901|0.5098|0.5432|0.648|0.5071|0.5222|0.5605|0.4501|0.6013|0.648|gnomADg_EAS|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,G|intron_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding||2/14|ENST00000379409.6:c.183+1062A>G|||||||rs28690976||1||SNV|HGNC|HGNC:25284||||2|A2|CCDS90835.1|ENSP00000368719|Q494U1.135||UPI0000D61E06|Q494U1-2|||||||0.4393|0.0802|0.4798|0.624|0.5457|0.5961||||||||||0.4385|0.1401|0.3901|0.5098|0.5432|0.648|0.5071|0.5222|0.5605|0.4501|0.6013|0.648|gnomADg_EAS|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGVWDASRAPRGTPDPGLGEGPALWLRSTCVYVCALSALPAGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,G|intron_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding||2/15|ENST00000379410.8:c.183+1062A>G|||||||rs28690976||1||SNV|HGNC|HGNC:25284|YES|NM_032129.3||1|P4|CCDS4.1|ENSP00000368720|Q494U1.135||UPI00001416D8|Q494U1-1|||||||0.4393|0.0802|0.4798|0.624|0.5457|0.5961||||||||||0.4385|0.1401|0.3901|0.5098|0.5432|0.648|0.5071|0.5222|0.5605|0.4501|0.6013|0.648|gnomADg_EAS|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,G|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000466300|nonsense_mediated_decay||||||||||rs28690976|3335|1|cds_start_NF|SNV|HGNC|HGNC:24023||||3|||ENSP00000463694||J3QLT4.45|UPI000268AE1E||||||||0.4393|0.0802|0.4798|0.624|0.5457|0.5961||||||||||0.4385|0.1401|0.3901|0.5098|0.5432|0.648|0.5071|0.5222|0.5605|0.4501|0.6013|0.648|gnomADg_EAS|||||||||||XLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGASPGAWGVAQQWDPLTSPVSTCPPQAAGACLPSTETVRPTTRAPTAGTWWPPCPRAGPGWEWLRWGTGSMLWAAMMGPQTWLPWSPTTP||,G|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000480267|retained_intron||||||||||rs28690976|3010|1||SNV|HGNC|HGNC:25284||||3||||||||||||||0.4393|0.0802|0.4798|0.624|0.5457|0.5961||||||||||0.4385|0.1401|0.3901|0.5098|0.5432|0.648|0.5071|0.5222|0.5605|0.4501|0.6013|0.648|gnomADg_EAS|||||||||||||,G|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000481067|retained_intron||||||||||rs28690976|3701|1||SNV|HGNC|HGNC:24023||||2||||||||||||||0.4393|0.0802|0.4798|0.624|0.5457|0.5961||||||||||0.4385|0.1401|0.3901|0.5098|0.5432|0.648|0.5071|0.5222|0.5605|0.4501|0.6013|0.648|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,2:0.5:3:0,0:1,1:1,1:1,0,1,1 -chr1 967941 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=2;GERMQ=52;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=120;POPAF=7.3;TLOD=14.2;SRC=custom;GRP=custom;CSQ=A|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding||||||||||rs6669800|2222|1||SNV|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0||||||||0.9111|0.9569|0.8718|0.8968|0.8688|0.9356||||||||||0.8903|0.9441|0.8103|0.8994|0.9044|0.8997|0.8204|0.8917|0.8631|0.8806|0.9344|0.9569|AFR|||||||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,A|intron_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding||2/14|ENST00000379407.7:c.183+1138G>A|||||||rs6669800||1||SNV|HGNC|HGNC:25284||||1|A2|CCDS53256.1|ENSP00000368717|Q494U1.135||UPI00005764FF|Q494U1-3|||||||0.9111|0.9569|0.8718|0.8968|0.8688|0.9356||||||||||0.8903|0.9441|0.8103|0.8994|0.9044|0.8997|0.8204|0.8917|0.8631|0.8806|0.9344|0.9569|AFR|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,A|intron_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding||2/14|ENST00000379409.6:c.183+1138G>A|||||||rs6669800||1||SNV|HGNC|HGNC:25284||||2|A2|CCDS90835.1|ENSP00000368719|Q494U1.135||UPI0000D61E06|Q494U1-2|||||||0.9111|0.9569|0.8718|0.8968|0.8688|0.9356||||||||||0.8903|0.9441|0.8103|0.8994|0.9044|0.8997|0.8204|0.8917|0.8631|0.8806|0.9344|0.9569|AFR|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGVWDASRAPRGTPDPGLGEGPALWLRSTCVYVCALSALPAGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,A|intron_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding||2/15|ENST00000379410.8:c.183+1138G>A|||||||rs6669800||1||SNV|HGNC|HGNC:25284|YES|NM_032129.3||1|P4|CCDS4.1|ENSP00000368720|Q494U1.135||UPI00001416D8|Q494U1-1|||||||0.9111|0.9569|0.8718|0.8968|0.8688|0.9356||||||||||0.8903|0.9441|0.8103|0.8994|0.9044|0.8997|0.8204|0.8917|0.8631|0.8806|0.9344|0.9569|AFR|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,A|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000466300|nonsense_mediated_decay||||||||||rs6669800|3411|1|cds_start_NF|SNV|HGNC|HGNC:24023||||3|||ENSP00000463694||J3QLT4.45|UPI000268AE1E||||||||0.9111|0.9569|0.8718|0.8968|0.8688|0.9356||||||||||0.8903|0.9441|0.8103|0.8994|0.9044|0.8997|0.8204|0.8917|0.8631|0.8806|0.9344|0.9569|AFR|||||||||||XLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGASPGAWGVAQQWDPLTSPVSTCPPQAAGACLPSTETVRPTTRAPTAGTWWPPCPRAGPGWEWLRWGTGSMLWAAMMGPQTWLPWSPTTP||,A|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000480267|retained_intron||||||||||rs6669800|2934|1||SNV|HGNC|HGNC:25284||||3||||||||||||||0.9111|0.9569|0.8718|0.8968|0.8688|0.9356||||||||||0.8903|0.9441|0.8103|0.8994|0.9044|0.8997|0.8204|0.8917|0.8631|0.8806|0.9344|0.9569|AFR|||||||||||||,A|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000481067|retained_intron||||||||||rs6669800|3777|1||SNV|HGNC|HGNC:24023||||2||||||||||||||0.9111|0.9569|0.8718|0.8968|0.8688|0.9356||||||||||0.8903|0.9441|0.8103|0.8994|0.9044|0.8997|0.8204|0.8917|0.8631|0.8806|0.9344|0.9569|AFR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 968841 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C1;DP=4;ECNT=1;GERMQ=37;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=113;POPAF=7.3;TLOD=6.68;SRC=custom;GRP=custom;CSQ=C|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding|||||||||||3122|1||SNV|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0||||||||||||||||||||||||||||||||||||||||||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,C|intron_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding||2/14|ENST00000379407.7:c.184-1436T>C|||||||||1||SNV|HGNC|HGNC:25284||||1|A2|CCDS53256.1|ENSP00000368717|Q494U1.135||UPI00005764FF|Q494U1-3|||||||||||||||||||||||||||||||||||||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|intron_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding||2/14|ENST00000379409.6:c.184-1436T>C|||||||||1||SNV|HGNC|HGNC:25284||||2|A2|CCDS90835.1|ENSP00000368719|Q494U1.135||UPI0000D61E06|Q494U1-2|||||||||||||||||||||||||||||||||||||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGVWDASRAPRGTPDPGLGEGPALWLRSTCVYVCALSALPAGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|intron_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding||2/15|ENST00000379410.8:c.184-1436T>C|||||||||1||SNV|HGNC|HGNC:25284|YES|NM_032129.3||1|P4|CCDS4.1|ENSP00000368720|Q494U1.135||UPI00001416D8|Q494U1-1|||||||||||||||||||||||||||||||||||||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000466300|nonsense_mediated_decay|||||||||||4311|1|cds_start_NF|SNV|HGNC|HGNC:24023||||3|||ENSP00000463694||J3QLT4.45|UPI000268AE1E||||||||||||||||||||||||||||||||||||||||||||||XLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGASPGAWGVAQQWDPLTSPVSTCPPQAAGACLPSTETVRPTTRAPTAGTWWPPCPRAGPGWEWLRWGTGSMLWAAMMGPQTWLPWSPTTP||,C|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000480267|retained_intron|||||||||||2034|1||SNV|HGNC|HGNC:25284||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000481067|retained_intron|||||||||||4677|1||SNV|HGNC|HGNC:24023||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000491024|protein_coding|||||||||||4671|1|cds_start_NF|SNV|HGNC|HGNC:25284||||3|||ENSP00000462558||J3KSM5.48|UPI000268AE1F||||||||||||||||||||||||||||||||||||||||||||||SLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.5:4:0,0:1,1:1,1:1,1,1,1 -chr1 969648 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=103;POPAF=7.3;TLOD=7.35;SRC=custom;GRP=custom;CSQ=G|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding||||||||||rs1643190274|3929|1||SNV|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0|||||||||||||||||||||||6.815e-06|0|0|0|0|0|0|0|1.486e-05|0|0|1.486e-05|gnomADg_NFE|||||||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,G|intron_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding||2/14|ENST00000379407.7:c.184-629A>G|||||||rs1643190274||1||SNV|HGNC|HGNC:25284||||1|A2|CCDS53256.1|ENSP00000368717|Q494U1.135||UPI00005764FF|Q494U1-3||||||||||||||||||||||6.815e-06|0|0|0|0|0|0|0|1.486e-05|0|0|1.486e-05|gnomADg_NFE|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,G|intron_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding||2/14|ENST00000379409.6:c.184-629A>G|||||||rs1643190274||1||SNV|HGNC|HGNC:25284||||2|A2|CCDS90835.1|ENSP00000368719|Q494U1.135||UPI0000D61E06|Q494U1-2||||||||||||||||||||||6.815e-06|0|0|0|0|0|0|0|1.486e-05|0|0|1.486e-05|gnomADg_NFE|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGVWDASRAPRGTPDPGLGEGPALWLRSTCVYVCALSALPAGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,G|intron_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding||2/15|ENST00000379410.8:c.184-629A>G|||||||rs1643190274||1||SNV|HGNC|HGNC:25284|YES|NM_032129.3||1|P4|CCDS4.1|ENSP00000368720|Q494U1.135||UPI00001416D8|Q494U1-1||||||||||||||||||||||6.815e-06|0|0|0|0|0|0|0|1.486e-05|0|0|1.486e-05|gnomADg_NFE|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,G|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000480267|retained_intron||||||||||rs1643190274|1227|1||SNV|HGNC|HGNC:25284||||3|||||||||||||||||||||||||||||6.815e-06|0|0|0|0|0|0|0|1.486e-05|0|0|1.486e-05|gnomADg_NFE|||||||||||||,G|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000491024|protein_coding||||||||||rs1643190274|3864|1|cds_start_NF|SNV|HGNC|HGNC:25284||||3|||ENSP00000462558||J3KSM5.48|UPI000268AE1F|||||||||||||||||||||||6.815e-06|0|0|0|0|0|0|0|1.486e-05|0|0|1.486e-05|gnomADg_NFE|||||||||||SLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 970005 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C0|1%2C1;DP=4;ECNT=1;GERMQ=37;MBQ=34,29;MFRL=0,0;MMQ=41,60;MPOS=43;POPAF=7.3;TLOD=5.57;SRC=custom;GRP=custom;CSQ=A|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding|||||||||||4286|1||SNV|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0||||||||||||||||||||||||||||||||||||||||||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,A|intron_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding||2/14|ENST00000379407.7:c.184-272G>A|||||||||1||SNV|HGNC|HGNC:25284||||1|A2|CCDS53256.1|ENSP00000368717|Q494U1.135||UPI00005764FF|Q494U1-3|||||||||||||||||||||||||||||||||||||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,A|intron_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding||2/14|ENST00000379409.6:c.184-272G>A|||||||||1||SNV|HGNC|HGNC:25284||||2|A2|CCDS90835.1|ENSP00000368719|Q494U1.135||UPI0000D61E06|Q494U1-2|||||||||||||||||||||||||||||||||||||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGVWDASRAPRGTPDPGLGEGPALWLRSTCVYVCALSALPAGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,A|intron_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding||2/15|ENST00000379410.8:c.184-272G>A|||||||||1||SNV|HGNC|HGNC:25284|YES|NM_032129.3||1|P4|CCDS4.1|ENSP00000368720|Q494U1.135||UPI00001416D8|Q494U1-1|||||||||||||||||||||||||||||||||||||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,A|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000480267|retained_intron|||||||||||870|1||SNV|HGNC|HGNC:25284||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000491024|protein_coding|||||||||||3507|1|cds_start_NF|SNV|HGNC|HGNC:25284||||3|||ENSP00000462558||J3KSM5.48|UPI000268AE1F||||||||||||||||||||||||||||||||||||||||||||||SLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.4:4:0,0:2,1:2,1:2,0,1,1 -chr1 970874 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C1|1%2C1;DP=3;ECNT=1;GERMQ=38;MBQ=32,29;MFRL=0,0;MMQ=60,60;MPOS=90;POPAF=7.3;TLOD=5.97;SRC=custom;GRP=custom;CSQ=G|downstream_gene_variant|MODIFIER|PERM1|ENSG00000187642|Transcript|ENST00000341290|protein_coding||||||||||rs770653962|4330|-1||SNV|HGNC|HGNC:28208||||2|A2|CCDS90836.1|ENSP00000343864|Q5SV97.110||UPI000022DAF4|Q5SV97-3|||||||||||||||||||||||||||||||||||||||||||||MEPRGGGSSQFSSCPGPASSGDQMQRLLQGPAPRPPGEPPGSPKSPGHSTGSQRPPDSPGAPPRSPSRKKRRAVGAKGGGHTGASASAQTGSPLLPAASPETAKLMAKAGQEELGPGPAGAPEPGPRSPVQEDRPGPGLGLSTPVPVTEQGTDQIRTPRRAKLHTVSTTVWEALPDVSRAKSDMAVSTPASEPQPDRDMAVSTPASEPQSDRDMAVSTPASEPQPDTDMAVSTPASEPQPDRDMAVSIPASKPQSDTAVSTPASEPQSSVALSTPISKPQLDTDVAVSTPASKHGLDVALPTAGPVAKLEVASSPPVSEAVPRMTESSGLVSTPVPRADAAGLAWPPTRRAGPDVVEMEAVVSEPSAGAPGCCSGAPALGLTQVPRKKKVRFSVAGPSPNKPGSGQASARPSAPQTATGAHGGPGAWEAVAVGPRPHQPRILKHLPRPPPSAVTRVGPGSSFAVTLPEAYEFFFCDTIEENEEAEAAAAGQDPAGVQWPDMCEFFFPDVGAQRSRRRGSPEPLPRADPVPAPIPGDPVPISIPEVYEHFFFGEDRLEGVLGPAVPLPLQALEPPRSASEGAGPGTPLKPAVVERLHLALRRAGELRGPVPSFAFSQNDMCLVFVAFATWAVRTSDPHTPDAWKTALLANVGTISAIRYFRRQVGQGRRSHSPSPSS||,G|splice_polypyrimidine_tract_variant&splice_region_variant&intron_variant|LOW|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding||5/14|ENST00000379407.7:c.485-5C>G|||||||rs770653962||1||SNV|HGNC|HGNC:25284||||1|A2|CCDS53256.1|ENSP00000368717|Q494U1.135||UPI00005764FF|Q494U1-3|||||||||||||||||||||||||||||||||||||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,G|synonymous_variant|LOW|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding|5/15||ENST00000379409.6:c.600C>G|ENSP00000368719.2:p.Pro200%3D|630|600|200|P|ccC/ccG|rs770653962||1||SNV|HGNC|HGNC:25284||||2|A2|CCDS90835.1|ENSP00000368719|Q494U1.135||UPI0000D61E06|Q494U1-2|||||||||||||||||||||||||||||||||||||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGVWDASRAPRGTPDPGLGEGPALWLRSTCVYVCALSALPAGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,G|splice_polypyrimidine_tract_variant&splice_region_variant&intron_variant|LOW|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding||5/15|ENST00000379410.8:c.485-5C>G|||||||rs770653962||1||SNV|HGNC|HGNC:25284|YES|NM_032129.3||1|P4|CCDS4.1|ENSP00000368720|Q494U1.135||UPI00001416D8|Q494U1-1|||||||||||||||||||||||||||||||||||||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,G|downstream_gene_variant|MODIFIER|PERM1|ENSG00000187642|Transcript|ENST00000433179|protein_coding||||||||||rs770653962|4324|-1||SNV|HGNC|HGNC:28208|YES|NM_001394713.1||5|P3|CCDS76083.1|ENSP00000414022|Q5SV97.110||UPI0003E30FA7|Q5SV97-1|||||||||||||||||||||||||||||||||||||||||||||MENFQYSVQLSDQDWAEFSATADECGLLQAGLASGDELLSSDIDQGDSSGSSPPRAPPLPTGQLAAGGRSRRGCEEEDVATQQPVSRSQGEPVLALGTGQQTPSTSARAEAPPSLGPGASPPSQFSSCPGPASSGDQMQRLLQGPAPRPPGEPPGSPKSPGHSTGSQRPPDSPGAPPRSPSRKKRRAVGAKGGGHTGASASAQTGSPLLPAASPETAKLMAKAGQEELGPGPAGAPEPGPRSPVQEDRPGPGLGLSTPVPVTEQGTDQIRTPRRAKLHTVSTTVWEALPDVSRAKSDMAVSTPASEPQPDRDMAVSTPASEPQSDRDMAVSTPASEPQPDTDMAVSTPASEPQPDRDMAVSIPASKPQSDTAVSTPASEPQSSVALSTPISKPQLDTDVAVSTPASKHGLDVALPTAGPVAKLEVASSPPVSEAVPRMTESSGLVSTPVPRADAAGLAWPPTRRAGPDVVEMEAVVSEPSAGAPGCCSGAPALGLTQVPRKKKVRFSVAGPSPNKPGSGQASARPSAPQTATGAHGGPGAWEAVAVGPRPHQPRILKHLPRPPPSAVTRVGPGSSFAVTLPEAYEFFFCDTIEENEEAEAAAAGQDPAGVQWPDMCEFFFPDVGAQRSRRRGSPEPLPRADPVPAPIPGDPVPISIPEVYEHFFFGEDRLEGVLGPAVPLPLQALEPPRSASEGAGPGTPLKPAVVERLHLALRRAGELRGPVPSFAFSQNDMCLVFVAFATWAVRTSDPHTPDAWKTALLANVGTISAIRYFRRQVGQGRRSHSPSPSS||,G|downstream_gene_variant|MODIFIER|PERM1|ENSG00000187642|Transcript|ENST00000479361|retained_intron||||||||||rs770653962|4331|-1||SNV|HGNC|HGNC:28208||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000480267|retained_intron||||||||||rs770653962|1|1||SNV|HGNC|HGNC:25284||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000491024|protein_coding||||||||||rs770653962|2638|1|cds_start_NF|SNV|HGNC|HGNC:25284||||3|||ENSP00000462558||J3KSM5.48|UPI000268AE1F||||||||||||||||||||||||||||||||||||||||||||||SLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,2:0.5:3:1,0:0,1:1,1:0,1,1,1 -chr1 971513 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C0|1%2C1;DP=3;ECNT=1;GERMQ=38;MBQ=32,30;MFRL=0,0;MMQ=60,60;MPOS=3;POPAF=7.3;TLOD=6.18;SRC=custom;GRP=custom;CSQ=A|downstream_gene_variant|MODIFIER|PERM1|ENSG00000187642|Transcript|ENST00000341290|protein_coding||||||||||rs373761289|3691|-1||SNV|HGNC|HGNC:28208||||2|A2|CCDS90836.1|ENSP00000343864|Q5SV97.110||UPI000022DAF4|Q5SV97-3|||||||0.0026|0|0.0014|0.0119|0|0||||||||||0.000355|0.000676|0|0.0001962|0|0.004245|0|0|1.471e-05|0|0|0.0119|EAS|||||||||||MEPRGGGSSQFSSCPGPASSGDQMQRLLQGPAPRPPGEPPGSPKSPGHSTGSQRPPDSPGAPPRSPSRKKRRAVGAKGGGHTGASASAQTGSPLLPAASPETAKLMAKAGQEELGPGPAGAPEPGPRSPVQEDRPGPGLGLSTPVPVTEQGTDQIRTPRRAKLHTVSTTVWEALPDVSRAKSDMAVSTPASEPQPDRDMAVSTPASEPQSDRDMAVSTPASEPQPDTDMAVSTPASEPQPDRDMAVSIPASKPQSDTAVSTPASEPQSSVALSTPISKPQLDTDVAVSTPASKHGLDVALPTAGPVAKLEVASSPPVSEAVPRMTESSGLVSTPVPRADAAGLAWPPTRRAGPDVVEMEAVVSEPSAGAPGCCSGAPALGLTQVPRKKKVRFSVAGPSPNKPGSGQASARPSAPQTATGAHGGPGAWEAVAVGPRPHQPRILKHLPRPPPSAVTRVGPGSSFAVTLPEAYEFFFCDTIEENEEAEAAAAGQDPAGVQWPDMCEFFFPDVGAQRSRRRGSPEPLPRADPVPAPIPGDPVPISIPEVYEHFFFGEDRLEGVLGPAVPLPLQALEPPRSASEGAGPGTPLKPAVVERLHLALRRAGELRGPVPSFAFSQNDMCLVFVAFATWAVRTSDPHTPDAWKTALLANVGTISAIRYFRRQVGQGRRSHSPSPSS||,A|intron_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding||8/14|ENST00000379407.7:c.825+109G>A|||||||rs373761289||1||SNV|HGNC|HGNC:25284||||1|A2|CCDS53256.1|ENSP00000368717|Q494U1.135||UPI00005764FF|Q494U1-3|||||||0.0026|0|0.0014|0.0119|0|0||||||||||0.000355|0.000676|0|0.0001962|0|0.004245|0|0|1.471e-05|0|0|0.0119|EAS|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,A|intron_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding||7/14|ENST00000379409.6:c.945+109G>A|||||||rs373761289||1||SNV|HGNC|HGNC:25284||||2|A2|CCDS90835.1|ENSP00000368719|Q494U1.135||UPI0000D61E06|Q494U1-2|||||||0.0026|0|0.0014|0.0119|0|0||||||||||0.000355|0.000676|0|0.0001962|0|0.004245|0|0|1.471e-05|0|0|0.0119|EAS|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGVWDASRAPRGTPDPGLGEGPALWLRSTCVYVCALSALPAGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,A|intron_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding||8/15|ENST00000379410.8:c.789+109G>A|||||||rs373761289||1||SNV|HGNC|HGNC:25284|YES|NM_032129.3||1|P4|CCDS4.1|ENSP00000368720|Q494U1.135||UPI00001416D8|Q494U1-1|||||||0.0026|0|0.0014|0.0119|0|0||||||||||0.000355|0.000676|0|0.0001962|0|0.004245|0|0|1.471e-05|0|0|0.0119|EAS|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,A|downstream_gene_variant|MODIFIER|PERM1|ENSG00000187642|Transcript|ENST00000433179|protein_coding||||||||||rs373761289|3685|-1||SNV|HGNC|HGNC:28208|YES|NM_001394713.1||5|P3|CCDS76083.1|ENSP00000414022|Q5SV97.110||UPI0003E30FA7|Q5SV97-1|||||||0.0026|0|0.0014|0.0119|0|0||||||||||0.000355|0.000676|0|0.0001962|0|0.004245|0|0|1.471e-05|0|0|0.0119|EAS|||||||||||MENFQYSVQLSDQDWAEFSATADECGLLQAGLASGDELLSSDIDQGDSSGSSPPRAPPLPTGQLAAGGRSRRGCEEEDVATQQPVSRSQGEPVLALGTGQQTPSTSARAEAPPSLGPGASPPSQFSSCPGPASSGDQMQRLLQGPAPRPPGEPPGSPKSPGHSTGSQRPPDSPGAPPRSPSRKKRRAVGAKGGGHTGASASAQTGSPLLPAASPETAKLMAKAGQEELGPGPAGAPEPGPRSPVQEDRPGPGLGLSTPVPVTEQGTDQIRTPRRAKLHTVSTTVWEALPDVSRAKSDMAVSTPASEPQPDRDMAVSTPASEPQSDRDMAVSTPASEPQPDTDMAVSTPASEPQPDRDMAVSIPASKPQSDTAVSTPASEPQSSVALSTPISKPQLDTDVAVSTPASKHGLDVALPTAGPVAKLEVASSPPVSEAVPRMTESSGLVSTPVPRADAAGLAWPPTRRAGPDVVEMEAVVSEPSAGAPGCCSGAPALGLTQVPRKKKVRFSVAGPSPNKPGSGQASARPSAPQTATGAHGGPGAWEAVAVGPRPHQPRILKHLPRPPPSAVTRVGPGSSFAVTLPEAYEFFFCDTIEENEEAEAAAAGQDPAGVQWPDMCEFFFPDVGAQRSRRRGSPEPLPRADPVPAPIPGDPVPISIPEVYEHFFFGEDRLEGVLGPAVPLPLQALEPPRSASEGAGPGTPLKPAVVERLHLALRRAGELRGPVPSFAFSQNDMCLVFVAFATWAVRTSDPHTPDAWKTALLANVGTISAIRYFRRQVGQGRRSHSPSPSS||,A|downstream_gene_variant|MODIFIER|PERM1|ENSG00000187642|Transcript|ENST00000479361|retained_intron||||||||||rs373761289|3692|-1||SNV|HGNC|HGNC:28208||||1||||||||||||||0.0026|0|0.0014|0.0119|0|0||||||||||0.000355|0.000676|0|0.0001962|0|0.004245|0|0|1.471e-05|0|0|0.0119|EAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000480267|retained_intron|3/3||ENST00000480267.1:n.454G>A||454|||||rs373761289||1||SNV|HGNC|HGNC:25284||||3||||||||||||||0.0026|0|0.0014|0.0119|0|0||||||||||0.000355|0.000676|0|0.0001962|0|0.004245|0|0|1.471e-05|0|0|0.0119|EAS|||||||||||||,A|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000491024|protein_coding||||||||||rs373761289|1999|1|cds_start_NF|SNV|HGNC|HGNC:25284||||3|||ENSP00000462558||J3KSM5.48|UPI000268AE1F||||||||0.0026|0|0.0014|0.0119|0|0||||||||||0.000355|0.000676|0|0.0001962|0|0.004245|0|0|1.471e-05|0|0|0.0119|EAS|||||||||||SLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,A|downstream_gene_variant|MODIFIER|PERM1|ENSG00000187642|Transcript|ENST00000694917|protein_coding||||||||||rs373761289|4608|-1||SNV|HGNC|HGNC:28208|||||P3|CCDS76083.1|ENSP00000511592|Q5SV97.110||UPI0003E30FA7|Q5SV97-1|||||||0.0026|0|0.0014|0.0119|0|0||||||||||0.000355|0.000676|0|0.0001962|0|0.004245|0|0|1.471e-05|0|0|0.0119|EAS|||||||||||MENFQYSVQLSDQDWAEFSATADECGLLQAGLASGDELLSSDIDQGDSSGSSPPRAPPLPTGQLAAGGRSRRGCEEEDVATQQPVSRSQGEPVLALGTGQQTPSTSARAEAPPSLGPGASPPSQFSSCPGPASSGDQMQRLLQGPAPRPPGEPPGSPKSPGHSTGSQRPPDSPGAPPRSPSRKKRRAVGAKGGGHTGASASAQTGSPLLPAASPETAKLMAKAGQEELGPGPAGAPEPGPRSPVQEDRPGPGLGLSTPVPVTEQGTDQIRTPRRAKLHTVSTTVWEALPDVSRAKSDMAVSTPASEPQPDRDMAVSTPASEPQSDRDMAVSTPASEPQPDTDMAVSTPASEPQPDRDMAVSIPASKPQSDTAVSTPASEPQSSVALSTPISKPQLDTDVAVSTPASKHGLDVALPTAGPVAKLEVASSPPVSEAVPRMTESSGLVSTPVPRADAAGLAWPPTRRAGPDVVEMEAVVSEPSAGAPGCCSGAPALGLTQVPRKKKVRFSVAGPSPNKPGSGQASARPSAPQTATGAHGGPGAWEAVAVGPRPHQPRILKHLPRPPPSAVTRVGPGSSFAVTLPEAYEFFFCDTIEENEEAEAAAAGQDPAGVQWPDMCEFFFPDVGAQRSRRRGSPEPLPRADPVPAPIPGDPVPISIPEVYEHFFFGEDRLEGVLGPAVPLPLQALEPPRSASEGAGPGTPLKPAVVERLHLALRRAGELRGPVPSFAFSQNDMCLVFVAFATWAVRTSDPHTPDAWKTALLANVGTISAIRYFRRQVGQGRRSHSPSPSS|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,2:0.5:3:0,0:1,1:1,1:1,0,1,1 -chr1 973443 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C4;DP=6;ECNT=1;GERMQ=58;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=100;POPAF=7.3;TLOD=18.74;SRC=custom;GRP=custom;CSQ=A|downstream_gene_variant|MODIFIER|PERM1|ENSG00000187642|Transcript|ENST00000341290|protein_coding||||||||||rs28687780&COSV58022102|1761|-1||SNV|HGNC|HGNC:28208||||2|A2|CCDS90836.1|ENSP00000343864|Q5SV97.110||UPI000022DAF4|Q5SV97-3|||||||0.1400|0.0605|0.1671|0.0823|0.162|0.2648||||||||||0.1403|0.07007|0.2852|0.1531|0.1718|0.07162|0.1607|0.25|0.1689|0.1724|0.258|0.2852|gnomADg_AMI||0&1|0&1||||||||MEPRGGGSSQFSSCPGPASSGDQMQRLLQGPAPRPPGEPPGSPKSPGHSTGSQRPPDSPGAPPRSPSRKKRRAVGAKGGGHTGASASAQTGSPLLPAASPETAKLMAKAGQEELGPGPAGAPEPGPRSPVQEDRPGPGLGLSTPVPVTEQGTDQIRTPRRAKLHTVSTTVWEALPDVSRAKSDMAVSTPASEPQPDRDMAVSTPASEPQSDRDMAVSTPASEPQPDTDMAVSTPASEPQPDRDMAVSIPASKPQSDTAVSTPASEPQSSVALSTPISKPQLDTDVAVSTPASKHGLDVALPTAGPVAKLEVASSPPVSEAVPRMTESSGLVSTPVPRADAAGLAWPPTRRAGPDVVEMEAVVSEPSAGAPGCCSGAPALGLTQVPRKKKVRFSVAGPSPNKPGSGQASARPSAPQTATGAHGGPGAWEAVAVGPRPHQPRILKHLPRPPPSAVTRVGPGSSFAVTLPEAYEFFFCDTIEENEEAEAAAAGQDPAGVQWPDMCEFFFPDVGAQRSRRRGSPEPLPRADPVPAPIPGDPVPISIPEVYEHFFFGEDRLEGVLGPAVPLPLQALEPPRSASEGAGPGTPLKPAVVERLHLALRRAGELRGPVPSFAFSQNDMCLVFVAFATWAVRTSDPHTPDAWKTALLANVGTISAIRYFRRQVGQGRRSHSPSPSS||,A|intron_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding||11/14|ENST00000379407.7:c.1189-57G>A|||||||rs28687780&COSV58022102||1||SNV|HGNC|HGNC:25284||||1|A2|CCDS53256.1|ENSP00000368717|Q494U1.135||UPI00005764FF|Q494U1-3|||||||0.1400|0.0605|0.1671|0.0823|0.162|0.2648||||||||||0.1403|0.07007|0.2852|0.1531|0.1718|0.07162|0.1607|0.25|0.1689|0.1724|0.258|0.2852|gnomADg_AMI||0&1|0&1||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,A|intron_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding||11/14|ENST00000379409.6:c.1450-57G>A|||||||rs28687780&COSV58022102||1||SNV|HGNC|HGNC:25284||||2|A2|CCDS90835.1|ENSP00000368719|Q494U1.135||UPI0000D61E06|Q494U1-2|||||||0.1400|0.0605|0.1671|0.0823|0.162|0.2648||||||||||0.1403|0.07007|0.2852|0.1531|0.1718|0.07162|0.1607|0.25|0.1689|0.1724|0.258|0.2852|gnomADg_AMI||0&1|0&1||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGVWDASRAPRGTPDPGLGEGPALWLRSTCVYVCALSALPAGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,A|intron_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding||12/15|ENST00000379410.8:c.1294-57G>A|||||||rs28687780&COSV58022102||1||SNV|HGNC|HGNC:25284|YES|NM_032129.3||1|P4|CCDS4.1|ENSP00000368720|Q494U1.135||UPI00001416D8|Q494U1-1|||||||0.1400|0.0605|0.1671|0.0823|0.162|0.2648||||||||||0.1403|0.07007|0.2852|0.1531|0.1718|0.07162|0.1607|0.25|0.1689|0.1724|0.258|0.2852|gnomADg_AMI||0&1|0&1||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,A|downstream_gene_variant|MODIFIER|PERM1|ENSG00000187642|Transcript|ENST00000433179|protein_coding||||||||||rs28687780&COSV58022102|1755|-1||SNV|HGNC|HGNC:28208|YES|NM_001394713.1||5|P3|CCDS76083.1|ENSP00000414022|Q5SV97.110||UPI0003E30FA7|Q5SV97-1|||||||0.1400|0.0605|0.1671|0.0823|0.162|0.2648||||||||||0.1403|0.07007|0.2852|0.1531|0.1718|0.07162|0.1607|0.25|0.1689|0.1724|0.258|0.2852|gnomADg_AMI||0&1|0&1||||||||MENFQYSVQLSDQDWAEFSATADECGLLQAGLASGDELLSSDIDQGDSSGSSPPRAPPLPTGQLAAGGRSRRGCEEEDVATQQPVSRSQGEPVLALGTGQQTPSTSARAEAPPSLGPGASPPSQFSSCPGPASSGDQMQRLLQGPAPRPPGEPPGSPKSPGHSTGSQRPPDSPGAPPRSPSRKKRRAVGAKGGGHTGASASAQTGSPLLPAASPETAKLMAKAGQEELGPGPAGAPEPGPRSPVQEDRPGPGLGLSTPVPVTEQGTDQIRTPRRAKLHTVSTTVWEALPDVSRAKSDMAVSTPASEPQPDRDMAVSTPASEPQSDRDMAVSTPASEPQPDTDMAVSTPASEPQPDRDMAVSIPASKPQSDTAVSTPASEPQSSVALSTPISKPQLDTDVAVSTPASKHGLDVALPTAGPVAKLEVASSPPVSEAVPRMTESSGLVSTPVPRADAAGLAWPPTRRAGPDVVEMEAVVSEPSAGAPGCCSGAPALGLTQVPRKKKVRFSVAGPSPNKPGSGQASARPSAPQTATGAHGGPGAWEAVAVGPRPHQPRILKHLPRPPPSAVTRVGPGSSFAVTLPEAYEFFFCDTIEENEEAEAAAAGQDPAGVQWPDMCEFFFPDVGAQRSRRRGSPEPLPRADPVPAPIPGDPVPISIPEVYEHFFFGEDRLEGVLGPAVPLPLQALEPPRSASEGAGPGTPLKPAVVERLHLALRRAGELRGPVPSFAFSQNDMCLVFVAFATWAVRTSDPHTPDAWKTALLANVGTISAIRYFRRQVGQGRRSHSPSPSS||,A|downstream_gene_variant|MODIFIER|PERM1|ENSG00000187642|Transcript|ENST00000479361|retained_intron||||||||||rs28687780&COSV58022102|1762|-1||SNV|HGNC|HGNC:28208||||1||||||||||||||0.1400|0.0605|0.1671|0.0823|0.162|0.2648||||||||||0.1403|0.07007|0.2852|0.1531|0.1718|0.07162|0.1607|0.25|0.1689|0.1724|0.258|0.2852|gnomADg_AMI||0&1|0&1||||||||||,A|downstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000480267|retained_intron||||||||||rs28687780&COSV58022102|1920|1||SNV|HGNC|HGNC:25284||||3||||||||||||||0.1400|0.0605|0.1671|0.0823|0.162|0.2648||||||||||0.1403|0.07007|0.2852|0.1531|0.1718|0.07162|0.1607|0.25|0.1689|0.1724|0.258|0.2852|gnomADg_AMI||0&1|0&1||||||||||,A|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000491024|protein_coding||||||||||rs28687780&COSV58022102|69|1|cds_start_NF|SNV|HGNC|HGNC:25284||||3|||ENSP00000462558||J3KSM5.48|UPI000268AE1F||||||||0.1400|0.0605|0.1671|0.0823|0.162|0.2648||||||||||0.1403|0.07007|0.2852|0.1531|0.1718|0.07162|0.1607|0.25|0.1689|0.1724|0.258|0.2852|gnomADg_AMI||0&1|0&1||||||||SLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,A|downstream_gene_variant|MODIFIER|PERM1|ENSG00000187642|Transcript|ENST00000694917|protein_coding||||||||||rs28687780&COSV58022102|2678|-1||SNV|HGNC|HGNC:28208|||||P3|CCDS76083.1|ENSP00000511592|Q5SV97.110||UPI0003E30FA7|Q5SV97-1|||||||0.1400|0.0605|0.1671|0.0823|0.162|0.2648||||||||||0.1403|0.07007|0.2852|0.1531|0.1718|0.07162|0.1607|0.25|0.1689|0.1724|0.258|0.2852|gnomADg_AMI||0&1|0&1||||||||MENFQYSVQLSDQDWAEFSATADECGLLQAGLASGDELLSSDIDQGDSSGSSPPRAPPLPTGQLAAGGRSRRGCEEEDVATQQPVSRSQGEPVLALGTGQQTPSTSARAEAPPSLGPGASPPSQFSSCPGPASSGDQMQRLLQGPAPRPPGEPPGSPKSPGHSTGSQRPPDSPGAPPRSPSRKKRRAVGAKGGGHTGASASAQTGSPLLPAASPETAKLMAKAGQEELGPGPAGAPEPGPRSPVQEDRPGPGLGLSTPVPVTEQGTDQIRTPRRAKLHTVSTTVWEALPDVSRAKSDMAVSTPASEPQPDRDMAVSTPASEPQSDRDMAVSTPASEPQPDTDMAVSTPASEPQPDRDMAVSIPASKPQSDTAVSTPASEPQSSVALSTPISKPQLDTDVAVSTPASKHGLDVALPTAGPVAKLEVASSPPVSEAVPRMTESSGLVSTPVPRADAAGLAWPPTRRAGPDVVEMEAVVSEPSAGAPGCCSGAPALGLTQVPRKKKVRFSVAGPSPNKPGSGQASARPSAPQTATGAHGGPGAWEAVAVGPRPHQPRILKHLPRPPPSAVTRVGPGSSFAVTLPEAYEFFFCDTIEENEEAEAAAAGQDPAGVQWPDMCEFFFPDVGAQRSRRRGSPEPLPRADPVPAPIPGDPVPISIPEVYEHFFFGEDRLEGVLGPAVPLPLQALEPPRSASEGAGPGTPLKPAVVERLHLALRRAGELRGPVPSFAFSQNDMCLVFVAFATWAVRTSDPHTPDAWKTALLANVGTISAIRYFRRQVGQGRRSHSPSPSS|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.833:6:0,2:0,1:0,4:0,0,2,4 -chr1 973841 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=52;POPAF=7.3;TLOD=3.58;SRC=custom;GRP=custom;CSQ=C|downstream_gene_variant|MODIFIER|PERM1|ENSG00000187642|Transcript|ENST00000341290|protein_coding||||||||||rs62639985|1363|-1||SNV|HGNC|HGNC:28208||||2|A2|CCDS90836.1|ENSP00000343864|Q5SV97.110||UPI000022DAF4|Q5SV97-3|||||||0.0162|0.003|0.0187|0|0.0378|0.0266|0.02734|0.006975|0.01271|0.02834|0|0.0229|0.04176|0.02959|0.02205|0.02769|0.007529|0.07599|0.01996|0.02535|0|0.02342|0.02848|0.04429|0.02153|0.02567|0.07599|gnomADg_AMI|||||||||||MEPRGGGSSQFSSCPGPASSGDQMQRLLQGPAPRPPGEPPGSPKSPGHSTGSQRPPDSPGAPPRSPSRKKRRAVGAKGGGHTGASASAQTGSPLLPAASPETAKLMAKAGQEELGPGPAGAPEPGPRSPVQEDRPGPGLGLSTPVPVTEQGTDQIRTPRRAKLHTVSTTVWEALPDVSRAKSDMAVSTPASEPQPDRDMAVSTPASEPQSDRDMAVSTPASEPQPDTDMAVSTPASEPQPDRDMAVSIPASKPQSDTAVSTPASEPQSSVALSTPISKPQLDTDVAVSTPASKHGLDVALPTAGPVAKLEVASSPPVSEAVPRMTESSGLVSTPVPRADAAGLAWPPTRRAGPDVVEMEAVVSEPSAGAPGCCSGAPALGLTQVPRKKKVRFSVAGPSPNKPGSGQASARPSAPQTATGAHGGPGAWEAVAVGPRPHQPRILKHLPRPPPSAVTRVGPGSSFAVTLPEAYEFFFCDTIEENEEAEAAAAGQDPAGVQWPDMCEFFFPDVGAQRSRRRGSPEPLPRADPVPAPIPGDPVPISIPEVYEHFFFGEDRLEGVLGPAVPLPLQALEPPRSASEGAGPGTPLKPAVVERLHLALRRAGELRGPVPSFAFSQNDMCLVFVAFATWAVRTSDPHTPDAWKTALLANVGTISAIRYFRRQVGQGRRSHSPSPSS||,C|synonymous_variant|LOW|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding|13/15||ENST00000379407.7:c.1338T>C|ENSP00000368717.2:p.Ser446%3D|1368|1338|446|S|agT/agC|rs62639985||1||SNV|HGNC|HGNC:25284||||1|A2|CCDS53256.1|ENSP00000368717|Q494U1.135||UPI00005764FF|Q494U1-3|||||||0.0162|0.003|0.0187|0|0.0378|0.0266|0.02734|0.006975|0.01271|0.02834|0|0.0229|0.04176|0.02959|0.02205|0.02769|0.007529|0.07599|0.01996|0.02535|0|0.02342|0.02848|0.04429|0.02153|0.02567|0.07599|gnomADg_AMI|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|synonymous_variant|LOW|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding|13/15||ENST00000379409.6:c.1599T>C|ENSP00000368719.2:p.Ser533%3D|1629|1599|533|S|agT/agC|rs62639985||1||SNV|HGNC|HGNC:25284||||2|A2|CCDS90835.1|ENSP00000368719|Q494U1.135||UPI0000D61E06|Q494U1-2|||||||0.0162|0.003|0.0187|0|0.0378|0.0266|0.02734|0.006975|0.01271|0.02834|0|0.0229|0.04176|0.02959|0.02205|0.02769|0.007529|0.07599|0.01996|0.02535|0|0.02342|0.02848|0.04429|0.02153|0.02567|0.07599|gnomADg_AMI|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGVWDASRAPRGTPDPGLGEGPALWLRSTCVYVCALSALPAGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|synonymous_variant|LOW|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding|14/16||ENST00000379410.8:c.1443T>C|ENSP00000368720.3:p.Ser481%3D|1493|1443|481|S|agT/agC|rs62639985||1||SNV|HGNC|HGNC:25284|YES|NM_032129.3||1|P4|CCDS4.1|ENSP00000368720|Q494U1.135||UPI00001416D8|Q494U1-1|||||||0.0162|0.003|0.0187|0|0.0378|0.0266|0.02734|0.006975|0.01271|0.02834|0|0.0229|0.04176|0.02959|0.02205|0.02769|0.007529|0.07599|0.01996|0.02535|0|0.02342|0.02848|0.04429|0.02153|0.02567|0.07599|gnomADg_AMI|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|downstream_gene_variant|MODIFIER|PERM1|ENSG00000187642|Transcript|ENST00000433179|protein_coding||||||||||rs62639985|1357|-1||SNV|HGNC|HGNC:28208|YES|NM_001394713.1||5|P3|CCDS76083.1|ENSP00000414022|Q5SV97.110||UPI0003E30FA7|Q5SV97-1|||||||0.0162|0.003|0.0187|0|0.0378|0.0266|0.02734|0.006975|0.01271|0.02834|0|0.0229|0.04176|0.02959|0.02205|0.02769|0.007529|0.07599|0.01996|0.02535|0|0.02342|0.02848|0.04429|0.02153|0.02567|0.07599|gnomADg_AMI|||||||||||MENFQYSVQLSDQDWAEFSATADECGLLQAGLASGDELLSSDIDQGDSSGSSPPRAPPLPTGQLAAGGRSRRGCEEEDVATQQPVSRSQGEPVLALGTGQQTPSTSARAEAPPSLGPGASPPSQFSSCPGPASSGDQMQRLLQGPAPRPPGEPPGSPKSPGHSTGSQRPPDSPGAPPRSPSRKKRRAVGAKGGGHTGASASAQTGSPLLPAASPETAKLMAKAGQEELGPGPAGAPEPGPRSPVQEDRPGPGLGLSTPVPVTEQGTDQIRTPRRAKLHTVSTTVWEALPDVSRAKSDMAVSTPASEPQPDRDMAVSTPASEPQSDRDMAVSTPASEPQPDTDMAVSTPASEPQPDRDMAVSIPASKPQSDTAVSTPASEPQSSVALSTPISKPQLDTDVAVSTPASKHGLDVALPTAGPVAKLEVASSPPVSEAVPRMTESSGLVSTPVPRADAAGLAWPPTRRAGPDVVEMEAVVSEPSAGAPGCCSGAPALGLTQVPRKKKVRFSVAGPSPNKPGSGQASARPSAPQTATGAHGGPGAWEAVAVGPRPHQPRILKHLPRPPPSAVTRVGPGSSFAVTLPEAYEFFFCDTIEENEEAEAAAAGQDPAGVQWPDMCEFFFPDVGAQRSRRRGSPEPLPRADPVPAPIPGDPVPISIPEVYEHFFFGEDRLEGVLGPAVPLPLQALEPPRSASEGAGPGTPLKPAVVERLHLALRRAGELRGPVPSFAFSQNDMCLVFVAFATWAVRTSDPHTPDAWKTALLANVGTISAIRYFRRQVGQGRRSHSPSPSS||,C|downstream_gene_variant|MODIFIER|PERM1|ENSG00000187642|Transcript|ENST00000479361|retained_intron||||||||||rs62639985|1364|-1||SNV|HGNC|HGNC:28208||||1||||||||||||||0.0162|0.003|0.0187|0|0.0378|0.0266|0.02734|0.006975|0.01271|0.02834|0|0.0229|0.04176|0.02959|0.02205|0.02769|0.007529|0.07599|0.01996|0.02535|0|0.02342|0.02848|0.04429|0.02153|0.02567|0.07599|gnomADg_AMI|||||||||||||,C|downstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000480267|retained_intron||||||||||rs62639985|2318|1||SNV|HGNC|HGNC:25284||||3||||||||||||||0.0162|0.003|0.0187|0|0.0378|0.0266|0.02734|0.006975|0.01271|0.02834|0|0.0229|0.04176|0.02959|0.02205|0.02769|0.007529|0.07599|0.01996|0.02535|0|0.02342|0.02848|0.04429|0.02153|0.02567|0.07599|gnomADg_AMI|||||||||||||,C|synonymous_variant|LOW|PLEKHN1|ENSG00000187583|Transcript|ENST00000491024|protein_coding|2/5||ENST00000491024.1:c.138T>C|ENSP00000462558.1:p.Ser46%3D|138|138|46|S|agT/agC|rs62639985||1|cds_start_NF|SNV|HGNC|HGNC:25284||||3|||ENSP00000462558||J3KSM5.48|UPI000268AE1F||||||||0.0162|0.003|0.0187|0|0.0378|0.0266|0.02734|0.006975|0.01271|0.02834|0|0.0229|0.04176|0.02959|0.02205|0.02769|0.007529|0.07599|0.01996|0.02535|0|0.02342|0.02848|0.04429|0.02153|0.02567|0.07599|gnomADg_AMI|||||||||||SLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|downstream_gene_variant|MODIFIER|PERM1|ENSG00000187642|Transcript|ENST00000694917|protein_coding||||||||||rs62639985|2280|-1||SNV|HGNC|HGNC:28208|||||P3|CCDS76083.1|ENSP00000511592|Q5SV97.110||UPI0003E30FA7|Q5SV97-1|||||||0.0162|0.003|0.0187|0|0.0378|0.0266|0.02734|0.006975|0.01271|0.02834|0|0.0229|0.04176|0.02959|0.02205|0.02769|0.007529|0.07599|0.01996|0.02535|0|0.02342|0.02848|0.04429|0.02153|0.02567|0.07599|gnomADg_AMI|||||||||||MENFQYSVQLSDQDWAEFSATADECGLLQAGLASGDELLSSDIDQGDSSGSSPPRAPPLPTGQLAAGGRSRRGCEEEDVATQQPVSRSQGEPVLALGTGQQTPSTSARAEAPPSLGPGASPPSQFSSCPGPASSGDQMQRLLQGPAPRPPGEPPGSPKSPGHSTGSQRPPDSPGAPPRSPSRKKRRAVGAKGGGHTGASASAQTGSPLLPAASPETAKLMAKAGQEELGPGPAGAPEPGPRSPVQEDRPGPGLGLSTPVPVTEQGTDQIRTPRRAKLHTVSTTVWEALPDVSRAKSDMAVSTPASEPQPDRDMAVSTPASEPQSDRDMAVSTPASEPQPDTDMAVSTPASEPQPDRDMAVSIPASKPQSDTAVSTPASEPQSSVALSTPISKPQLDTDVAVSTPASKHGLDVALPTAGPVAKLEVASSPPVSEAVPRMTESSGLVSTPVPRADAAGLAWPPTRRAGPDVVEMEAVVSEPSAGAPGCCSGAPALGLTQVPRKKKVRFSVAGPSPNKPGSGQASARPSAPQTATGAHGGPGAWEAVAVGPRPHQPRILKHLPRPPPSAVTRVGPGSSFAVTLPEAYEFFFCDTIEENEEAEAAAAGQDPAGVQWPDMCEFFFPDVGAQRSRRRGSPEPLPRADPVPAPIPGDPVPISIPEVYEHFFFGEDRLEGVLGPAVPLPLQALEPPRSASEGAGPGTPLKPAVVERLHLALRRAGELRGPVPSFAFSQNDMCLVFVAFATWAVRTSDPHTPDAWKTALLANVGTISAIRYFRRQVGQGRRSHSPSPSS|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 973929 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C1;DP=4;ECNT=1;GERMQ=37;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=115;POPAF=7.3;TLOD=6.98;SRC=custom;GRP=custom;CSQ=C|downstream_gene_variant|MODIFIER|PERM1|ENSG00000187642|Transcript|ENST00000341290|protein_coding||||||||||rs3829738&COSV58021392|1275|-1||SNV|HGNC|HGNC:28208||||2|A2|CCDS90836.1|ENSP00000343864|Q5SV97.110||UPI000022DAF4|Q5SV97-3|||||||0.2542|0.239|0.2248|0.2758|0.1839|0.3456|0.222|0.2551|0.2225|0.2067|0.2569|0.2126|0.1829|0.2387|0.3318|0.2151|0.2519|0.2945|0.2079|0.1954|0.2501|0.2119|0.2816|0.1825|0.2316|0.3371|0.3456|SAS||0&1|1&1|33510632&31562340|||||||MEPRGGGSSQFSSCPGPASSGDQMQRLLQGPAPRPPGEPPGSPKSPGHSTGSQRPPDSPGAPPRSPSRKKRRAVGAKGGGHTGASASAQTGSPLLPAASPETAKLMAKAGQEELGPGPAGAPEPGPRSPVQEDRPGPGLGLSTPVPVTEQGTDQIRTPRRAKLHTVSTTVWEALPDVSRAKSDMAVSTPASEPQPDRDMAVSTPASEPQSDRDMAVSTPASEPQPDTDMAVSTPASEPQPDRDMAVSIPASKPQSDTAVSTPASEPQSSVALSTPISKPQLDTDVAVSTPASKHGLDVALPTAGPVAKLEVASSPPVSEAVPRMTESSGLVSTPVPRADAAGLAWPPTRRAGPDVVEMEAVVSEPSAGAPGCCSGAPALGLTQVPRKKKVRFSVAGPSPNKPGSGQASARPSAPQTATGAHGGPGAWEAVAVGPRPHQPRILKHLPRPPPSAVTRVGPGSSFAVTLPEAYEFFFCDTIEENEEAEAAAAGQDPAGVQWPDMCEFFFPDVGAQRSRRRGSPEPLPRADPVPAPIPGDPVPISIPEVYEHFFFGEDRLEGVLGPAVPLPLQALEPPRSASEGAGPGTPLKPAVVERLHLALRRAGELRGPVPSFAFSQNDMCLVFVAFATWAVRTSDPHTPDAWKTALLANVGTISAIRYFRRQVGQGRRSHSPSPSS||,C|missense_variant|MODERATE|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding|13/15||ENST00000379407.7:c.1426T>C|ENSP00000368717.2:p.Ser476Pro|1456|1426|476|S/P|Tcc/Ccc|rs3829738&COSV58021392||1||SNV|HGNC|HGNC:25284||||1|A2|CCDS53256.1|ENSP00000368717|Q494U1.135||UPI00005764FF|Q494U1-3||tolerated(0.17)|benign(0.003)||||0.2542|0.239|0.2248|0.2758|0.1839|0.3456|0.222|0.2551|0.2225|0.2067|0.2569|0.2126|0.1829|0.2387|0.3318|0.2151|0.2519|0.2945|0.2079|0.1954|0.2501|0.2119|0.2816|0.1825|0.2316|0.3371|0.3456|SAS||0&1|1&1|33510632&31562340|||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|missense_variant|MODERATE|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding|13/15||ENST00000379409.6:c.1687T>C|ENSP00000368719.2:p.Ser563Pro|1717|1687|563|S/P|Tcc/Ccc|rs3829738&COSV58021392||1||SNV|HGNC|HGNC:25284||||2|A2|CCDS90835.1|ENSP00000368719|Q494U1.135||UPI0000D61E06|Q494U1-2||tolerated(0.17)|benign(0)||||0.2542|0.239|0.2248|0.2758|0.1839|0.3456|0.222|0.2551|0.2225|0.2067|0.2569|0.2126|0.1829|0.2387|0.3318|0.2151|0.2519|0.2945|0.2079|0.1954|0.2501|0.2119|0.2816|0.1825|0.2316|0.3371|0.3456|SAS||0&1|1&1|33510632&31562340|||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGVWDASRAPRGTPDPGLGEGPALWLRSTCVYVCALSALPAGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|missense_variant|MODERATE|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding|14/16||ENST00000379410.8:c.1531T>C|ENSP00000368720.3:p.Ser511Pro|1581|1531|511|S/P|Tcc/Ccc|rs3829738&COSV58021392||1||SNV|HGNC|HGNC:25284|YES|NM_032129.3||1|P4|CCDS4.1|ENSP00000368720|Q494U1.135||UPI00001416D8|Q494U1-1||tolerated(0.16)|benign(0)||||0.2542|0.239|0.2248|0.2758|0.1839|0.3456|0.222|0.2551|0.2225|0.2067|0.2569|0.2126|0.1829|0.2387|0.3318|0.2151|0.2519|0.2945|0.2079|0.1954|0.2501|0.2119|0.2816|0.1825|0.2316|0.3371|0.3456|SAS||0&1|1&1|33510632&31562340|||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|downstream_gene_variant|MODIFIER|PERM1|ENSG00000187642|Transcript|ENST00000433179|protein_coding||||||||||rs3829738&COSV58021392|1269|-1||SNV|HGNC|HGNC:28208|YES|NM_001394713.1||5|P3|CCDS76083.1|ENSP00000414022|Q5SV97.110||UPI0003E30FA7|Q5SV97-1|||||||0.2542|0.239|0.2248|0.2758|0.1839|0.3456|0.222|0.2551|0.2225|0.2067|0.2569|0.2126|0.1829|0.2387|0.3318|0.2151|0.2519|0.2945|0.2079|0.1954|0.2501|0.2119|0.2816|0.1825|0.2316|0.3371|0.3456|SAS||0&1|1&1|33510632&31562340|||||||MENFQYSVQLSDQDWAEFSATADECGLLQAGLASGDELLSSDIDQGDSSGSSPPRAPPLPTGQLAAGGRSRRGCEEEDVATQQPVSRSQGEPVLALGTGQQTPSTSARAEAPPSLGPGASPPSQFSSCPGPASSGDQMQRLLQGPAPRPPGEPPGSPKSPGHSTGSQRPPDSPGAPPRSPSRKKRRAVGAKGGGHTGASASAQTGSPLLPAASPETAKLMAKAGQEELGPGPAGAPEPGPRSPVQEDRPGPGLGLSTPVPVTEQGTDQIRTPRRAKLHTVSTTVWEALPDVSRAKSDMAVSTPASEPQPDRDMAVSTPASEPQSDRDMAVSTPASEPQPDTDMAVSTPASEPQPDRDMAVSIPASKPQSDTAVSTPASEPQSSVALSTPISKPQLDTDVAVSTPASKHGLDVALPTAGPVAKLEVASSPPVSEAVPRMTESSGLVSTPVPRADAAGLAWPPTRRAGPDVVEMEAVVSEPSAGAPGCCSGAPALGLTQVPRKKKVRFSVAGPSPNKPGSGQASARPSAPQTATGAHGGPGAWEAVAVGPRPHQPRILKHLPRPPPSAVTRVGPGSSFAVTLPEAYEFFFCDTIEENEEAEAAAAGQDPAGVQWPDMCEFFFPDVGAQRSRRRGSPEPLPRADPVPAPIPGDPVPISIPEVYEHFFFGEDRLEGVLGPAVPLPLQALEPPRSASEGAGPGTPLKPAVVERLHLALRRAGELRGPVPSFAFSQNDMCLVFVAFATWAVRTSDPHTPDAWKTALLANVGTISAIRYFRRQVGQGRRSHSPSPSS||,C|downstream_gene_variant|MODIFIER|PERM1|ENSG00000187642|Transcript|ENST00000479361|retained_intron||||||||||rs3829738&COSV58021392|1276|-1||SNV|HGNC|HGNC:28208||||1||||||||||||||0.2542|0.239|0.2248|0.2758|0.1839|0.3456|0.222|0.2551|0.2225|0.2067|0.2569|0.2126|0.1829|0.2387|0.3318|0.2151|0.2519|0.2945|0.2079|0.1954|0.2501|0.2119|0.2816|0.1825|0.2316|0.3371|0.3456|SAS||0&1|1&1|33510632&31562340|||||||||,C|downstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000480267|retained_intron||||||||||rs3829738&COSV58021392|2406|1||SNV|HGNC|HGNC:25284||||3||||||||||||||0.2542|0.239|0.2248|0.2758|0.1839|0.3456|0.222|0.2551|0.2225|0.2067|0.2569|0.2126|0.1829|0.2387|0.3318|0.2151|0.2519|0.2945|0.2079|0.1954|0.2501|0.2119|0.2816|0.1825|0.2316|0.3371|0.3456|SAS||0&1|1&1|33510632&31562340|||||||||,C|missense_variant|MODERATE|PLEKHN1|ENSG00000187583|Transcript|ENST00000491024|protein_coding|2/5||ENST00000491024.1:c.226T>C|ENSP00000462558.1:p.Ser76Pro|226|226|76|S/P|Tcc/Ccc|rs3829738&COSV58021392||1|cds_start_NF|SNV|HGNC|HGNC:25284||||3|||ENSP00000462558||J3KSM5.48|UPI000268AE1F|||tolerated(0.2)|benign(0)||||0.2542|0.239|0.2248|0.2758|0.1839|0.3456|0.222|0.2551|0.2225|0.2067|0.2569|0.2126|0.1829|0.2387|0.3318|0.2151|0.2519|0.2945|0.2079|0.1954|0.2501|0.2119|0.2816|0.1825|0.2316|0.3371|0.3456|SAS||0&1|1&1|33510632&31562340|||||||SLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|downstream_gene_variant|MODIFIER|PERM1|ENSG00000187642|Transcript|ENST00000694917|protein_coding||||||||||rs3829738&COSV58021392|2192|-1||SNV|HGNC|HGNC:28208|||||P3|CCDS76083.1|ENSP00000511592|Q5SV97.110||UPI0003E30FA7|Q5SV97-1|||||||0.2542|0.239|0.2248|0.2758|0.1839|0.3456|0.222|0.2551|0.2225|0.2067|0.2569|0.2126|0.1829|0.2387|0.3318|0.2151|0.2519|0.2945|0.2079|0.1954|0.2501|0.2119|0.2816|0.1825|0.2316|0.3371|0.3456|SAS||0&1|1&1|33510632&31562340|||||||MENFQYSVQLSDQDWAEFSATADECGLLQAGLASGDELLSSDIDQGDSSGSSPPRAPPLPTGQLAAGGRSRRGCEEEDVATQQPVSRSQGEPVLALGTGQQTPSTSARAEAPPSLGPGASPPSQFSSCPGPASSGDQMQRLLQGPAPRPPGEPPGSPKSPGHSTGSQRPPDSPGAPPRSPSRKKRRAVGAKGGGHTGASASAQTGSPLLPAASPETAKLMAKAGQEELGPGPAGAPEPGPRSPVQEDRPGPGLGLSTPVPVTEQGTDQIRTPRRAKLHTVSTTVWEALPDVSRAKSDMAVSTPASEPQPDRDMAVSTPASEPQSDRDMAVSTPASEPQPDTDMAVSTPASEPQPDRDMAVSIPASKPQSDTAVSTPASEPQSSVALSTPISKPQLDTDVAVSTPASKHGLDVALPTAGPVAKLEVASSPPVSEAVPRMTESSGLVSTPVPRADAAGLAWPPTRRAGPDVVEMEAVVSEPSAGAPGCCSGAPALGLTQVPRKKKVRFSVAGPSPNKPGSGQASARPSAPQTATGAHGGPGAWEAVAVGPRPHQPRILKHLPRPPPSAVTRVGPGSSFAVTLPEAYEFFFCDTIEENEEAEAAAAGQDPAGVQWPDMCEFFFPDVGAQRSRRRGSPEPLPRADPVPAPIPGDPVPISIPEVYEHFFFGEDRLEGVLGPAVPLPLQALEPPRSASEGAGPGTPLKPAVVERLHLALRRAGELRGPVPSFAFSQNDMCLVFVAFATWAVRTSDPHTPDAWKTALLANVGTISAIRYFRRQVGQGRRSHSPSPSS|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.5:4:0,0:1,1:1,1:1,1,1,1 -chr1 974388 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=110;POPAF=7.3;TLOD=7.05;SRC=custom;GRP=custom;CSQ=G|downstream_gene_variant|MODIFIER|PERM1|ENSG00000187642|Transcript|ENST00000341290|protein_coding||||||||||rs2340593|816|-1||SNV|HGNC|HGNC:28208||||2|A2|CCDS90836.1|ENSP00000343864|Q5SV97.110||UPI000022DAF4|Q5SV97-3|||||||0.9996|0.9985|1|1|1|1|1|0.9994|1|1|1|1|1|1|1|0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AMR&EAS&EUR&SAS&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||MEPRGGGSSQFSSCPGPASSGDQMQRLLQGPAPRPPGEPPGSPKSPGHSTGSQRPPDSPGAPPRSPSRKKRRAVGAKGGGHTGASASAQTGSPLLPAASPETAKLMAKAGQEELGPGPAGAPEPGPRSPVQEDRPGPGLGLSTPVPVTEQGTDQIRTPRRAKLHTVSTTVWEALPDVSRAKSDMAVSTPASEPQPDRDMAVSTPASEPQSDRDMAVSTPASEPQPDTDMAVSTPASEPQPDRDMAVSIPASKPQSDTAVSTPASEPQSSVALSTPISKPQLDTDVAVSTPASKHGLDVALPTAGPVAKLEVASSPPVSEAVPRMTESSGLVSTPVPRADAAGLAWPPTRRAGPDVVEMEAVVSEPSAGAPGCCSGAPALGLTQVPRKKKVRFSVAGPSPNKPGSGQASARPSAPQTATGAHGGPGAWEAVAVGPRPHQPRILKHLPRPPPSAVTRVGPGSSFAVTLPEAYEFFFCDTIEENEEAEAAAAGQDPAGVQWPDMCEFFFPDVGAQRSRRRGSPEPLPRADPVPAPIPGDPVPISIPEVYEHFFFGEDRLEGVLGPAVPLPLQALEPPRSASEGAGPGTPLKPAVVERLHLALRRAGELRGPVPSFAFSQNDMCLVFVAFATWAVRTSDPHTPDAWKTALLANVGTISAIRYFRRQVGQGRRSHSPSPSS||,G|intron_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding||14/14|ENST00000379407.7:c.1597+24A>G|||||||rs2340593||1||SNV|HGNC|HGNC:25284||||1|A2|CCDS53256.1|ENSP00000368717|Q494U1.135||UPI00005764FF|Q494U1-3|||||||0.9996|0.9985|1|1|1|1|1|0.9994|1|1|1|1|1|1|1|0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AMR&EAS&EUR&SAS&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,G|intron_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding||14/14|ENST00000379409.6:c.1858+24A>G|||||||rs2340593||1||SNV|HGNC|HGNC:25284||||2|A2|CCDS90835.1|ENSP00000368719|Q494U1.135||UPI0000D61E06|Q494U1-2|||||||0.9996|0.9985|1|1|1|1|1|0.9994|1|1|1|1|1|1|1|0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AMR&EAS&EUR&SAS&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGVWDASRAPRGTPDPGLGEGPALWLRSTCVYVCALSALPAGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,G|intron_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding||15/15|ENST00000379410.8:c.1702+24A>G|||||||rs2340593||1||SNV|HGNC|HGNC:25284|YES|NM_032129.3||1|P4|CCDS4.1|ENSP00000368720|Q494U1.135||UPI00001416D8|Q494U1-1|||||||0.9996|0.9985|1|1|1|1|1|0.9994|1|1|1|1|1|1|1|0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AMR&EAS&EUR&SAS&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,G|downstream_gene_variant|MODIFIER|PERM1|ENSG00000187642|Transcript|ENST00000433179|protein_coding||||||||||rs2340593|810|-1||SNV|HGNC|HGNC:28208|YES|NM_001394713.1||5|P3|CCDS76083.1|ENSP00000414022|Q5SV97.110||UPI0003E30FA7|Q5SV97-1|||||||0.9996|0.9985|1|1|1|1|1|0.9994|1|1|1|1|1|1|1|0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AMR&EAS&EUR&SAS&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||MENFQYSVQLSDQDWAEFSATADECGLLQAGLASGDELLSSDIDQGDSSGSSPPRAPPLPTGQLAAGGRSRRGCEEEDVATQQPVSRSQGEPVLALGTGQQTPSTSARAEAPPSLGPGASPPSQFSSCPGPASSGDQMQRLLQGPAPRPPGEPPGSPKSPGHSTGSQRPPDSPGAPPRSPSRKKRRAVGAKGGGHTGASASAQTGSPLLPAASPETAKLMAKAGQEELGPGPAGAPEPGPRSPVQEDRPGPGLGLSTPVPVTEQGTDQIRTPRRAKLHTVSTTVWEALPDVSRAKSDMAVSTPASEPQPDRDMAVSTPASEPQSDRDMAVSTPASEPQPDTDMAVSTPASEPQPDRDMAVSIPASKPQSDTAVSTPASEPQSSVALSTPISKPQLDTDVAVSTPASKHGLDVALPTAGPVAKLEVASSPPVSEAVPRMTESSGLVSTPVPRADAAGLAWPPTRRAGPDVVEMEAVVSEPSAGAPGCCSGAPALGLTQVPRKKKVRFSVAGPSPNKPGSGQASARPSAPQTATGAHGGPGAWEAVAVGPRPHQPRILKHLPRPPPSAVTRVGPGSSFAVTLPEAYEFFFCDTIEENEEAEAAAAGQDPAGVQWPDMCEFFFPDVGAQRSRRRGSPEPLPRADPVPAPIPGDPVPISIPEVYEHFFFGEDRLEGVLGPAVPLPLQALEPPRSASEGAGPGTPLKPAVVERLHLALRRAGELRGPVPSFAFSQNDMCLVFVAFATWAVRTSDPHTPDAWKTALLANVGTISAIRYFRRQVGQGRRSHSPSPSS||,G|downstream_gene_variant|MODIFIER|PERM1|ENSG00000187642|Transcript|ENST00000479361|retained_intron||||||||||rs2340593|817|-1||SNV|HGNC|HGNC:28208||||1||||||||||||||0.9996|0.9985|1|1|1|1|1|0.9994|1|1|1|1|1|1|1|0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AMR&EAS&EUR&SAS&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|downstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000480267|retained_intron||||||||||rs2340593|2865|1||SNV|HGNC|HGNC:25284||||3||||||||||||||0.9996|0.9985|1|1|1|1|1|0.9994|1|1|1|1|1|1|1|0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AMR&EAS&EUR&SAS&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|intron_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000491024|protein_coding||3/4|ENST00000491024.1:c.397+24A>G|||||||rs2340593||1|cds_start_NF|SNV|HGNC|HGNC:25284||||3|||ENSP00000462558||J3KSM5.48|UPI000268AE1F||||||||0.9996|0.9985|1|1|1|1|1|0.9994|1|1|1|1|1|1|1|0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AMR&EAS&EUR&SAS&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||SLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,G|downstream_gene_variant|MODIFIER|PERM1|ENSG00000187642|Transcript|ENST00000694917|protein_coding||||||||||rs2340593|1733|-1||SNV|HGNC|HGNC:28208|||||P3|CCDS76083.1|ENSP00000511592|Q5SV97.110||UPI0003E30FA7|Q5SV97-1|||||||0.9996|0.9985|1|1|1|1|1|0.9994|1|1|1|1|1|1|1|0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AMR&EAS&EUR&SAS&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||MENFQYSVQLSDQDWAEFSATADECGLLQAGLASGDELLSSDIDQGDSSGSSPPRAPPLPTGQLAAGGRSRRGCEEEDVATQQPVSRSQGEPVLALGTGQQTPSTSARAEAPPSLGPGASPPSQFSSCPGPASSGDQMQRLLQGPAPRPPGEPPGSPKSPGHSTGSQRPPDSPGAPPRSPSRKKRRAVGAKGGGHTGASASAQTGSPLLPAASPETAKLMAKAGQEELGPGPAGAPEPGPRSPVQEDRPGPGLGLSTPVPVTEQGTDQIRTPRRAKLHTVSTTVWEALPDVSRAKSDMAVSTPASEPQPDRDMAVSTPASEPQSDRDMAVSTPASEPQPDTDMAVSTPASEPQPDRDMAVSIPASKPQSDTAVSTPASEPQSSVALSTPISKPQLDTDVAVSTPASKHGLDVALPTAGPVAKLEVASSPPVSEAVPRMTESSGLVSTPVPRADAAGLAWPPTRRAGPDVVEMEAVVSEPSAGAPGCCSGAPALGLTQVPRKKKVRFSVAGPSPNKPGSGQASARPSAPQTATGAHGGPGAWEAVAVGPRPHQPRILKHLPRPPPSAVTRVGPGSSFAVTLPEAYEFFFCDTIEENEEAEAAAAGQDPAGVQWPDMCEFFFPDVGAQRSRRRGSPEPLPRADPVPAPIPGDPVPISIPEVYEHFFFGEDRLEGVLGPAVPLPLQALEPPRSASEGAGPGTPLKPAVVERLHLALRRAGELRGPVPSFAFSQNDMCLVFVAFATWAVRTSDPHTPDAWKTALLANVGTISAIRYFRRQVGQGRRSHSPSPSS|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 975139 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=67;POPAF=7.3;TLOD=3.25;SRC=custom;GRP=custom;CSQ=T|downstream_gene_variant|MODIFIER|PERM1|ENSG00000187642|Transcript|ENST00000341290|protein_coding|||||||||||65|-1||SNV|HGNC|HGNC:28208||||2|A2|CCDS90836.1|ENSP00000343864|Q5SV97.110||UPI000022DAF4|Q5SV97-3|||||||||||||||||||||||||||||||||||||||||||||MEPRGGGSSQFSSCPGPASSGDQMQRLLQGPAPRPPGEPPGSPKSPGHSTGSQRPPDSPGAPPRSPSRKKRRAVGAKGGGHTGASASAQTGSPLLPAASPETAKLMAKAGQEELGPGPAGAPEPGPRSPVQEDRPGPGLGLSTPVPVTEQGTDQIRTPRRAKLHTVSTTVWEALPDVSRAKSDMAVSTPASEPQPDRDMAVSTPASEPQSDRDMAVSTPASEPQPDTDMAVSTPASEPQPDRDMAVSIPASKPQSDTAVSTPASEPQSSVALSTPISKPQLDTDVAVSTPASKHGLDVALPTAGPVAKLEVASSPPVSEAVPRMTESSGLVSTPVPRADAAGLAWPPTRRAGPDVVEMEAVVSEPSAGAPGCCSGAPALGLTQVPRKKKVRFSVAGPSPNKPGSGQASARPSAPQTATGAHGGPGAWEAVAVGPRPHQPRILKHLPRPPPSAVTRVGPGSSFAVTLPEAYEFFFCDTIEENEEAEAAAAGQDPAGVQWPDMCEFFFPDVGAQRSRRRGSPEPLPRADPVPAPIPGDPVPISIPEVYEHFFFGEDRLEGVLGPAVPLPLQALEPPRSASEGAGPGTPLKPAVVERLHLALRRAGELRGPVPSFAFSQNDMCLVFVAFATWAVRTSDPHTPDAWKTALLANVGTISAIRYFRRQVGQGRRSHSPSPSS||,T|downstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding|||||||||||131|1||SNV|HGNC|HGNC:25284||||1|A2|CCDS53256.1|ENSP00000368717|Q494U1.135||UPI00005764FF|Q494U1-3|||||||||||||||||||||||||||||||||||||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,T|downstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding|||||||||||131|1||SNV|HGNC|HGNC:25284||||2|A2|CCDS90835.1|ENSP00000368719|Q494U1.135||UPI0000D61E06|Q494U1-2|||||||||||||||||||||||||||||||||||||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGVWDASRAPRGTPDPGLGEGPALWLRSTCVYVCALSALPAGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,T|3_prime_UTR_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding|16/16||ENST00000379410.8:c.*564G>T||2450|||||||1||SNV|HGNC|HGNC:25284|YES|NM_032129.3||1|P4|CCDS4.1|ENSP00000368720|Q494U1.135||UPI00001416D8|Q494U1-1|||||||||||||||||||||||||||||||||||||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,T|downstream_gene_variant|MODIFIER|PERM1|ENSG00000187642|Transcript|ENST00000433179|protein_coding|||||||||||59|-1||SNV|HGNC|HGNC:28208|YES|NM_001394713.1||5|P3|CCDS76083.1|ENSP00000414022|Q5SV97.110||UPI0003E30FA7|Q5SV97-1|||||||||||||||||||||||||||||||||||||||||||||MENFQYSVQLSDQDWAEFSATADECGLLQAGLASGDELLSSDIDQGDSSGSSPPRAPPLPTGQLAAGGRSRRGCEEEDVATQQPVSRSQGEPVLALGTGQQTPSTSARAEAPPSLGPGASPPSQFSSCPGPASSGDQMQRLLQGPAPRPPGEPPGSPKSPGHSTGSQRPPDSPGAPPRSPSRKKRRAVGAKGGGHTGASASAQTGSPLLPAASPETAKLMAKAGQEELGPGPAGAPEPGPRSPVQEDRPGPGLGLSTPVPVTEQGTDQIRTPRRAKLHTVSTTVWEALPDVSRAKSDMAVSTPASEPQPDRDMAVSTPASEPQSDRDMAVSTPASEPQPDTDMAVSTPASEPQPDRDMAVSIPASKPQSDTAVSTPASEPQSSVALSTPISKPQLDTDVAVSTPASKHGLDVALPTAGPVAKLEVASSPPVSEAVPRMTESSGLVSTPVPRADAAGLAWPPTRRAGPDVVEMEAVVSEPSAGAPGCCSGAPALGLTQVPRKKKVRFSVAGPSPNKPGSGQASARPSAPQTATGAHGGPGAWEAVAVGPRPHQPRILKHLPRPPPSAVTRVGPGSSFAVTLPEAYEFFFCDTIEENEEAEAAAAGQDPAGVQWPDMCEFFFPDVGAQRSRRRGSPEPLPRADPVPAPIPGDPVPISIPEVYEHFFFGEDRLEGVLGPAVPLPLQALEPPRSASEGAGPGTPLKPAVVERLHLALRRAGELRGPVPSFAFSQNDMCLVFVAFATWAVRTSDPHTPDAWKTALLANVGTISAIRYFRRQVGQGRRSHSPSPSS||,T|downstream_gene_variant|MODIFIER|PERM1|ENSG00000187642|Transcript|ENST00000479361|retained_intron|||||||||||66|-1||SNV|HGNC|HGNC:28208||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000480267|retained_intron|||||||||||3616|1||SNV|HGNC|HGNC:25284||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000491024|protein_coding||4/4|ENST00000491024.1:c.*13+551G>T|||||||||1|cds_start_NF|SNV|HGNC|HGNC:25284||||3|||ENSP00000462558||J3KSM5.48|UPI000268AE1F||||||||||||||||||||||||||||||||||||||||||||||SLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,T|downstream_gene_variant|MODIFIER|PERM1|ENSG00000187642|Transcript|ENST00000694917|protein_coding|||||||||||982|-1||SNV|HGNC|HGNC:28208|||||P3|CCDS76083.1|ENSP00000511592|Q5SV97.110||UPI0003E30FA7|Q5SV97-1|||||||||||||||||||||||||||||||||||||||||||||MENFQYSVQLSDQDWAEFSATADECGLLQAGLASGDELLSSDIDQGDSSGSSPPRAPPLPTGQLAAGGRSRRGCEEEDVATQQPVSRSQGEPVLALGTGQQTPSTSARAEAPPSLGPGASPPSQFSSCPGPASSGDQMQRLLQGPAPRPPGEPPGSPKSPGHSTGSQRPPDSPGAPPRSPSRKKRRAVGAKGGGHTGASASAQTGSPLLPAASPETAKLMAKAGQEELGPGPAGAPEPGPRSPVQEDRPGPGLGLSTPVPVTEQGTDQIRTPRRAKLHTVSTTVWEALPDVSRAKSDMAVSTPASEPQPDRDMAVSTPASEPQSDRDMAVSTPASEPQPDTDMAVSTPASEPQPDRDMAVSIPASKPQSDTAVSTPASEPQSSVALSTPISKPQLDTDVAVSTPASKHGLDVALPTAGPVAKLEVASSPPVSEAVPRMTESSGLVSTPVPRADAAGLAWPPTRRAGPDVVEMEAVVSEPSAGAPGCCSGAPALGLTQVPRKKKVRFSVAGPSPNKPGSGQASARPSAPQTATGAHGGPGAWEAVAVGPRPHQPRILKHLPRPPPSAVTRVGPGSSFAVTLPEAYEFFFCDTIEENEEAEAAAAGQDPAGVQWPDMCEFFFPDVGAQRSRRRGSPEPLPRADPVPAPIPGDPVPISIPEVYEHFFFGEDRLEGVLGPAVPLPLQALEPPRSASEGAGPGTPLKPAVVERLHLALRRAGELRGPVPSFAFSQNDMCLVFVAFATWAVRTSDPHTPDAWKTALLANVGTISAIRYFRRQVGQGRRSHSPSPSS|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 975447 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=4%2C2|1%2C2;DP=9;ECNT=3;GERMQ=39;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=136;POPAF=7.3;TLOD=6.28;SRC=custom;GRP=custom;CSQ=C|3_prime_UTR_variant|MODIFIER|PERM1|ENSG00000187642|Transcript|ENST00000341290|protein_coding|5/5||ENST00000341290.6:c.*725A>G||2792|||||||-1||SNV|HGNC|HGNC:28208||||2|A2|CCDS90836.1|ENSP00000343864|Q5SV97.110||UPI000022DAF4|Q5SV97-3|||||||||||||||||||||||||||||||||||||||||||||MEPRGGGSSQFSSCPGPASSGDQMQRLLQGPAPRPPGEPPGSPKSPGHSTGSQRPPDSPGAPPRSPSRKKRRAVGAKGGGHTGASASAQTGSPLLPAASPETAKLMAKAGQEELGPGPAGAPEPGPRSPVQEDRPGPGLGLSTPVPVTEQGTDQIRTPRRAKLHTVSTTVWEALPDVSRAKSDMAVSTPASEPQPDRDMAVSTPASEPQSDRDMAVSTPASEPQPDTDMAVSTPASEPQPDRDMAVSIPASKPQSDTAVSTPASEPQSSVALSTPISKPQLDTDVAVSTPASKHGLDVALPTAGPVAKLEVASSPPVSEAVPRMTESSGLVSTPVPRADAAGLAWPPTRRAGPDVVEMEAVVSEPSAGAPGCCSGAPALGLTQVPRKKKVRFSVAGPSPNKPGSGQASARPSAPQTATGAHGGPGAWEAVAVGPRPHQPRILKHLPRPPPSAVTRVGPGSSFAVTLPEAYEFFFCDTIEENEEAEAAAAGQDPAGVQWPDMCEFFFPDVGAQRSRRRGSPEPLPRADPVPAPIPGDPVPISIPEVYEHFFFGEDRLEGVLGPAVPLPLQALEPPRSASEGAGPGTPLKPAVVERLHLALRRAGELRGPVPSFAFSQNDMCLVFVAFATWAVRTSDPHTPDAWKTALLANVGTISAIRYFRRQVGQGRRSHSPSPSS||,C|downstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding|||||||||||439|1||SNV|HGNC|HGNC:25284||||1|A2|CCDS53256.1|ENSP00000368717|Q494U1.135||UPI00005764FF|Q494U1-3|||||||||||||||||||||||||||||||||||||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|downstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding|||||||||||439|1||SNV|HGNC|HGNC:25284||||2|A2|CCDS90835.1|ENSP00000368719|Q494U1.135||UPI0000D61E06|Q494U1-2|||||||||||||||||||||||||||||||||||||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGVWDASRAPRGTPDPGLGEGPALWLRSTCVYVCALSALPAGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|3_prime_UTR_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding|16/16||ENST00000379410.8:c.*872T>C||2758|||||||1||SNV|HGNC|HGNC:25284|YES|NM_032129.3||1|P4|CCDS4.1|ENSP00000368720|Q494U1.135||UPI00001416D8|Q494U1-1|||||||||||||||||||||||||||||||||||||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|3_prime_UTR_variant|MODIFIER|PERM1|ENSG00000187642|Transcript|ENST00000433179|protein_coding|4/4||ENST00000433179.4:c.*725A>G||3271|||||||-1||SNV|HGNC|HGNC:28208|YES|NM_001394713.1||5|P3|CCDS76083.1|ENSP00000414022|Q5SV97.110||UPI0003E30FA7|Q5SV97-1|||||||||||||||||||||||||||||||||||||||||||||MENFQYSVQLSDQDWAEFSATADECGLLQAGLASGDELLSSDIDQGDSSGSSPPRAPPLPTGQLAAGGRSRRGCEEEDVATQQPVSRSQGEPVLALGTGQQTPSTSARAEAPPSLGPGASPPSQFSSCPGPASSGDQMQRLLQGPAPRPPGEPPGSPKSPGHSTGSQRPPDSPGAPPRSPSRKKRRAVGAKGGGHTGASASAQTGSPLLPAASPETAKLMAKAGQEELGPGPAGAPEPGPRSPVQEDRPGPGLGLSTPVPVTEQGTDQIRTPRRAKLHTVSTTVWEALPDVSRAKSDMAVSTPASEPQPDRDMAVSTPASEPQSDRDMAVSTPASEPQPDTDMAVSTPASEPQPDRDMAVSIPASKPQSDTAVSTPASEPQSSVALSTPISKPQLDTDVAVSTPASKHGLDVALPTAGPVAKLEVASSPPVSEAVPRMTESSGLVSTPVPRADAAGLAWPPTRRAGPDVVEMEAVVSEPSAGAPGCCSGAPALGLTQVPRKKKVRFSVAGPSPNKPGSGQASARPSAPQTATGAHGGPGAWEAVAVGPRPHQPRILKHLPRPPPSAVTRVGPGSSFAVTLPEAYEFFFCDTIEENEEAEAAAAGQDPAGVQWPDMCEFFFPDVGAQRSRRRGSPEPLPRADPVPAPIPGDPVPISIPEVYEHFFFGEDRLEGVLGPAVPLPLQALEPPRSASEGAGPGTPLKPAVVERLHLALRRAGELRGPVPSFAFSQNDMCLVFVAFATWAVRTSDPHTPDAWKTALLANVGTISAIRYFRRQVGQGRRSHSPSPSS||,C|non_coding_transcript_exon_variant|MODIFIER|PERM1|ENSG00000187642|Transcript|ENST00000479361|retained_intron|2/2||ENST00000479361.1:n.966A>G||966|||||||-1||SNV|HGNC|HGNC:28208||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000480267|retained_intron|||||||||||3924|1||SNV|HGNC|HGNC:25284||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000491024|protein_coding||4/4|ENST00000491024.1:c.*14-265T>C|||||||||1|cds_start_NF|SNV|HGNC|HGNC:25284||||3|||ENSP00000462558||J3KSM5.48|UPI000268AE1F||||||||||||||||||||||||||||||||||||||||||||||SLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|downstream_gene_variant|MODIFIER|PERM1|ENSG00000187642|Transcript|ENST00000694917|protein_coding|||||||||||674|-1||SNV|HGNC|HGNC:28208|||||P3|CCDS76083.1|ENSP00000511592|Q5SV97.110||UPI0003E30FA7|Q5SV97-1|||||||||||||||||||||||||||||||||||||||||||||MENFQYSVQLSDQDWAEFSATADECGLLQAGLASGDELLSSDIDQGDSSGSSPPRAPPLPTGQLAAGGRSRRGCEEEDVATQQPVSRSQGEPVLALGTGQQTPSTSARAEAPPSLGPGASPPSQFSSCPGPASSGDQMQRLLQGPAPRPPGEPPGSPKSPGHSTGSQRPPDSPGAPPRSPSRKKRRAVGAKGGGHTGASASAQTGSPLLPAASPETAKLMAKAGQEELGPGPAGAPEPGPRSPVQEDRPGPGLGLSTPVPVTEQGTDQIRTPRRAKLHTVSTTVWEALPDVSRAKSDMAVSTPASEPQPDRDMAVSTPASEPQSDRDMAVSTPASEPQPDTDMAVSTPASEPQPDRDMAVSIPASKPQSDTAVSTPASEPQSSVALSTPISKPQLDTDVAVSTPASKHGLDVALPTAGPVAKLEVASSPPVSEAVPRMTESSGLVSTPVPRADAAGLAWPPTRRAGPDVVEMEAVVSEPSAGAPGCCSGAPALGLTQVPRKKKVRFSVAGPSPNKPGSGQASARPSAPQTATGAHGGPGAWEAVAVGPRPHQPRILKHLPRPPPSAVTRVGPGSSFAVTLPEAYEFFFCDTIEENEEAEAAAAGQDPAGVQWPDMCEFFFPDVGAQRSRRRGSPEPLPRADPVPAPIPGDPVPISIPEVYEHFFFGEDRLEGVLGPAVPLPLQALEPPRSASEGAGPGTPLKPAVVERLHLALRRAGELRGPVPSFAFSQNDMCLVFVAFATWAVRTSDPHTPDAWKTALLANVGTISAIRYFRRQVGQGRRSHSPSPSS|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,3:0.286:9:0,0:4,1:4,1:4,2,1,2 -chr1 975523 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=3%2C3|3%2C2;DP=11;ECNT=3;GERMQ=36;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=18;POPAF=7.3;TLOD=16.54;SRC=custom;GRP=custom;CSQ=C|3_prime_UTR_variant|MODIFIER|PERM1|ENSG00000187642|Transcript|ENST00000341290|protein_coding|5/5||ENST00000341290.6:c.*649A>G||2716|||||rs4970429||-1||SNV|HGNC|HGNC:28208||||2|A2|CCDS90836.1|ENSP00000343864|Q5SV97.110||UPI000022DAF4|Q5SV97-3|||||||0.9147|0.7496|0.9409|0.999|0.9592|0.9867||||||||||0.916|0.7787|0.9759|0.9468|0.9237|0.9996|0.9916|0.9335|0.9683|0.924|0.982|0.9996|gnomADg_EAS|||||||||||MEPRGGGSSQFSSCPGPASSGDQMQRLLQGPAPRPPGEPPGSPKSPGHSTGSQRPPDSPGAPPRSPSRKKRRAVGAKGGGHTGASASAQTGSPLLPAASPETAKLMAKAGQEELGPGPAGAPEPGPRSPVQEDRPGPGLGLSTPVPVTEQGTDQIRTPRRAKLHTVSTTVWEALPDVSRAKSDMAVSTPASEPQPDRDMAVSTPASEPQSDRDMAVSTPASEPQPDTDMAVSTPASEPQPDRDMAVSIPASKPQSDTAVSTPASEPQSSVALSTPISKPQLDTDVAVSTPASKHGLDVALPTAGPVAKLEVASSPPVSEAVPRMTESSGLVSTPVPRADAAGLAWPPTRRAGPDVVEMEAVVSEPSAGAPGCCSGAPALGLTQVPRKKKVRFSVAGPSPNKPGSGQASARPSAPQTATGAHGGPGAWEAVAVGPRPHQPRILKHLPRPPPSAVTRVGPGSSFAVTLPEAYEFFFCDTIEENEEAEAAAAGQDPAGVQWPDMCEFFFPDVGAQRSRRRGSPEPLPRADPVPAPIPGDPVPISIPEVYEHFFFGEDRLEGVLGPAVPLPLQALEPPRSASEGAGPGTPLKPAVVERLHLALRRAGELRGPVPSFAFSQNDMCLVFVAFATWAVRTSDPHTPDAWKTALLANVGTISAIRYFRRQVGQGRRSHSPSPSS||,C|downstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding||||||||||rs4970429|515|1||SNV|HGNC|HGNC:25284||||1|A2|CCDS53256.1|ENSP00000368717|Q494U1.135||UPI00005764FF|Q494U1-3|||||||0.9147|0.7496|0.9409|0.999|0.9592|0.9867||||||||||0.916|0.7787|0.9759|0.9468|0.9237|0.9996|0.9916|0.9335|0.9683|0.924|0.982|0.9996|gnomADg_EAS|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|downstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding||||||||||rs4970429|515|1||SNV|HGNC|HGNC:25284||||2|A2|CCDS90835.1|ENSP00000368719|Q494U1.135||UPI0000D61E06|Q494U1-2|||||||0.9147|0.7496|0.9409|0.999|0.9592|0.9867||||||||||0.916|0.7787|0.9759|0.9468|0.9237|0.9996|0.9916|0.9335|0.9683|0.924|0.982|0.9996|gnomADg_EAS|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGVWDASRAPRGTPDPGLGEGPALWLRSTCVYVCALSALPAGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|3_prime_UTR_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding|16/16||ENST00000379410.8:c.*948T>C||2834|||||rs4970429||1||SNV|HGNC|HGNC:25284|YES|NM_032129.3||1|P4|CCDS4.1|ENSP00000368720|Q494U1.135||UPI00001416D8|Q494U1-1|||||||0.9147|0.7496|0.9409|0.999|0.9592|0.9867||||||||||0.916|0.7787|0.9759|0.9468|0.9237|0.9996|0.9916|0.9335|0.9683|0.924|0.982|0.9996|gnomADg_EAS|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|3_prime_UTR_variant|MODIFIER|PERM1|ENSG00000187642|Transcript|ENST00000433179|protein_coding|4/4||ENST00000433179.4:c.*649A>G||3195|||||rs4970429||-1||SNV|HGNC|HGNC:28208|YES|NM_001394713.1||5|P3|CCDS76083.1|ENSP00000414022|Q5SV97.110||UPI0003E30FA7|Q5SV97-1|||||||0.9147|0.7496|0.9409|0.999|0.9592|0.9867||||||||||0.916|0.7787|0.9759|0.9468|0.9237|0.9996|0.9916|0.9335|0.9683|0.924|0.982|0.9996|gnomADg_EAS|||||||||||MENFQYSVQLSDQDWAEFSATADECGLLQAGLASGDELLSSDIDQGDSSGSSPPRAPPLPTGQLAAGGRSRRGCEEEDVATQQPVSRSQGEPVLALGTGQQTPSTSARAEAPPSLGPGASPPSQFSSCPGPASSGDQMQRLLQGPAPRPPGEPPGSPKSPGHSTGSQRPPDSPGAPPRSPSRKKRRAVGAKGGGHTGASASAQTGSPLLPAASPETAKLMAKAGQEELGPGPAGAPEPGPRSPVQEDRPGPGLGLSTPVPVTEQGTDQIRTPRRAKLHTVSTTVWEALPDVSRAKSDMAVSTPASEPQPDRDMAVSTPASEPQSDRDMAVSTPASEPQPDTDMAVSTPASEPQPDRDMAVSIPASKPQSDTAVSTPASEPQSSVALSTPISKPQLDTDVAVSTPASKHGLDVALPTAGPVAKLEVASSPPVSEAVPRMTESSGLVSTPVPRADAAGLAWPPTRRAGPDVVEMEAVVSEPSAGAPGCCSGAPALGLTQVPRKKKVRFSVAGPSPNKPGSGQASARPSAPQTATGAHGGPGAWEAVAVGPRPHQPRILKHLPRPPPSAVTRVGPGSSFAVTLPEAYEFFFCDTIEENEEAEAAAAGQDPAGVQWPDMCEFFFPDVGAQRSRRRGSPEPLPRADPVPAPIPGDPVPISIPEVYEHFFFGEDRLEGVLGPAVPLPLQALEPPRSASEGAGPGTPLKPAVVERLHLALRRAGELRGPVPSFAFSQNDMCLVFVAFATWAVRTSDPHTPDAWKTALLANVGTISAIRYFRRQVGQGRRSHSPSPSS||,C|non_coding_transcript_exon_variant|MODIFIER|PERM1|ENSG00000187642|Transcript|ENST00000479361|retained_intron|2/2||ENST00000479361.1:n.890A>G||890|||||rs4970429||-1||SNV|HGNC|HGNC:28208||||1||||||||||||||0.9147|0.7496|0.9409|0.999|0.9592|0.9867||||||||||0.916|0.7787|0.9759|0.9468|0.9237|0.9996|0.9916|0.9335|0.9683|0.924|0.982|0.9996|gnomADg_EAS|||||||||||||,C|downstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000480267|retained_intron||||||||||rs4970429|4000|1||SNV|HGNC|HGNC:25284||||3||||||||||||||0.9147|0.7496|0.9409|0.999|0.9592|0.9867||||||||||0.916|0.7787|0.9759|0.9468|0.9237|0.9996|0.9916|0.9335|0.9683|0.924|0.982|0.9996|gnomADg_EAS|||||||||||||,C|intron_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000491024|protein_coding||4/4|ENST00000491024.1:c.*14-189T>C|||||||rs4970429||1|cds_start_NF|SNV|HGNC|HGNC:25284||||3|||ENSP00000462558||J3KSM5.48|UPI000268AE1F||||||||0.9147|0.7496|0.9409|0.999|0.9592|0.9867||||||||||0.916|0.7787|0.9759|0.9468|0.9237|0.9996|0.9916|0.9335|0.9683|0.924|0.982|0.9996|gnomADg_EAS|||||||||||SLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|downstream_gene_variant|MODIFIER|PERM1|ENSG00000187642|Transcript|ENST00000694917|protein_coding||||||||||rs4970429|598|-1||SNV|HGNC|HGNC:28208|||||P3|CCDS76083.1|ENSP00000511592|Q5SV97.110||UPI0003E30FA7|Q5SV97-1|||||||0.9147|0.7496|0.9409|0.999|0.9592|0.9867||||||||||0.916|0.7787|0.9759|0.9468|0.9237|0.9996|0.9916|0.9335|0.9683|0.924|0.982|0.9996|gnomADg_EAS|||||||||||MENFQYSVQLSDQDWAEFSATADECGLLQAGLASGDELLSSDIDQGDSSGSSPPRAPPLPTGQLAAGGRSRRGCEEEDVATQQPVSRSQGEPVLALGTGQQTPSTSARAEAPPSLGPGASPPSQFSSCPGPASSGDQMQRLLQGPAPRPPGEPPGSPKSPGHSTGSQRPPDSPGAPPRSPSRKKRRAVGAKGGGHTGASASAQTGSPLLPAASPETAKLMAKAGQEELGPGPAGAPEPGPRSPVQEDRPGPGLGLSTPVPVTEQGTDQIRTPRRAKLHTVSTTVWEALPDVSRAKSDMAVSTPASEPQPDRDMAVSTPASEPQSDRDMAVSTPASEPQPDTDMAVSTPASEPQPDRDMAVSIPASKPQSDTAVSTPASEPQSSVALSTPISKPQLDTDVAVSTPASKHGLDVALPTAGPVAKLEVASSPPVSEAVPRMTESSGLVSTPVPRADAAGLAWPPTRRAGPDVVEMEAVVSEPSAGAPGCCSGAPALGLTQVPRKKKVRFSVAGPSPNKPGSGQASARPSAPQTATGAHGGPGAWEAVAVGPRPHQPRILKHLPRPPPSAVTRVGPGSSFAVTLPEAYEFFFCDTIEENEEAEAAAAGQDPAGVQWPDMCEFFFPDVGAQRSRRRGSPEPLPRADPVPAPIPGDPVPISIPEVYEHFFFGEDRLEGVLGPAVPLPLQALEPPRSASEGAGPGTPLKPAVVERLHLALRRAGELRGPVPSFAFSQNDMCLVFVAFATWAVRTSDPHTPDAWKTALLANVGTISAIRYFRRQVGQGRRSHSPSPSS|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,5:0.5:11:0,0:3,3:3,3:3,3,3,2 -chr1 976215 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5%2C7|3%2C3;DP=20;ECNT=1;GERMQ=40;MBQ=32,34;MFRL=0,0;MMQ=60,60;MPOS=65;POPAF=7.3;TLOD=19.72;SRC=custom;GRP=custom;CSQ=G|missense_variant|MODERATE|PERM1|ENSG00000187642|Transcript|ENST00000341290|protein_coding|5/5||ENST00000341290.6:c.1988T>C|ENSP00000343864.2:p.Val663Ala|2024|1988|663|V/A|gTg/gCg|rs7417106&COSV58020657||-1||SNV|HGNC|HGNC:28208||||2|A2|CCDS90836.1|ENSP00000343864|Q5SV97.110||UPI000022DAF4|Q5SV97-3||tolerated(0.14)|possibly_damaging(0.737)||||0.7103|0.4092|0.8012|0.9246|0.7873|0.7526|0.7916|0.4733|0.8376|0.7507|0.9444|0.8181|0.7907|0.7593|0.7755|0.7147|0.4922|0.6956|0.7995|0.7693|0.9368|0.8133|0.693|0.7919|0.7201|0.7736|0.9444|gnomADe_EAS|pathogenic|0&1|1&1|29481575|||||||MEPRGGGSSQFSSCPGPASSGDQMQRLLQGPAPRPPGEPPGSPKSPGHSTGSQRPPDSPGAPPRSPSRKKRRAVGAKGGGHTGASASAQTGSPLLPAASPETAKLMAKAGQEELGPGPAGAPEPGPRSPVQEDRPGPGLGLSTPVPVTEQGTDQIRTPRRAKLHTVSTTVWEALPDVSRAKSDMAVSTPASEPQPDRDMAVSTPASEPQSDRDMAVSTPASEPQPDTDMAVSTPASEPQPDRDMAVSIPASKPQSDTAVSTPASEPQSSVALSTPISKPQLDTDVAVSTPASKHGLDVALPTAGPVAKLEVASSPPVSEAVPRMTESSGLVSTPVPRADAAGLAWPPTRRAGPDVVEMEAVVSEPSAGAPGCCSGAPALGLTQVPRKKKVRFSVAGPSPNKPGSGQASARPSAPQTATGAHGGPGAWEAVAVGPRPHQPRILKHLPRPPPSAVTRVGPGSSFAVTLPEAYEFFFCDTIEENEEAEAAAAGQDPAGVQWPDMCEFFFPDVGAQRSRRRGSPEPLPRADPVPAPIPGDPVPISIPEVYEHFFFGEDRLEGVLGPAVPLPLQALEPPRSASEGAGPGTPLKPAVVERLHLALRRAGELRGPVPSFAFSQNDMCLVFVAFATWAVRTSDPHTPDAWKTALLANVGTISAIRYFRRQVGQGRRSHSPSPSS||,G|downstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding||||||||||rs7417106&COSV58020657|1207|1||SNV|HGNC|HGNC:25284||||1|A2|CCDS53256.1|ENSP00000368717|Q494U1.135||UPI00005764FF|Q494U1-3|||||||0.7103|0.4092|0.8012|0.9246|0.7873|0.7526|0.7916|0.4733|0.8376|0.7507|0.9444|0.8181|0.7907|0.7593|0.7755|0.7147|0.4922|0.6956|0.7995|0.7693|0.9368|0.8133|0.693|0.7919|0.7201|0.7736|0.9444|gnomADe_EAS|pathogenic|0&1|1&1|29481575|||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,G|downstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding||||||||||rs7417106&COSV58020657|1207|1||SNV|HGNC|HGNC:25284||||2|A2|CCDS90835.1|ENSP00000368719|Q494U1.135||UPI0000D61E06|Q494U1-2|||||||0.7103|0.4092|0.8012|0.9246|0.7873|0.7526|0.7916|0.4733|0.8376|0.7507|0.9444|0.8181|0.7907|0.7593|0.7755|0.7147|0.4922|0.6956|0.7995|0.7693|0.9368|0.8133|0.693|0.7919|0.7201|0.7736|0.9444|gnomADe_EAS|pathogenic|0&1|1&1|29481575|||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGVWDASRAPRGTPDPGLGEGPALWLRSTCVYVCALSALPAGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,G|downstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding||||||||||rs7417106&COSV58020657|350|1||SNV|HGNC|HGNC:25284|YES|NM_032129.3||1|P4|CCDS4.1|ENSP00000368720|Q494U1.135||UPI00001416D8|Q494U1-1|||||||0.7103|0.4092|0.8012|0.9246|0.7873|0.7526|0.7916|0.4733|0.8376|0.7507|0.9444|0.8181|0.7907|0.7593|0.7755|0.7147|0.4922|0.6956|0.7995|0.7693|0.9368|0.8133|0.693|0.7919|0.7201|0.7736|0.9444|gnomADe_EAS|pathogenic|0&1|1&1|29481575|||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,G|missense_variant|MODERATE|PERM1|ENSG00000187642|Transcript|ENST00000433179|protein_coding|4/4||ENST00000433179.4:c.2330T>C|ENSP00000414022.3:p.Val777Ala|2503|2330|777|V/A|gTg/gCg|rs7417106&COSV58020657||-1||SNV|HGNC|HGNC:28208|YES|NM_001394713.1||5|P3|CCDS76083.1|ENSP00000414022|Q5SV97.110||UPI0003E30FA7|Q5SV97-1||tolerated(0.17)|benign(0.309)||||0.7103|0.4092|0.8012|0.9246|0.7873|0.7526|0.7916|0.4733|0.8376|0.7507|0.9444|0.8181|0.7907|0.7593|0.7755|0.7147|0.4922|0.6956|0.7995|0.7693|0.9368|0.8133|0.693|0.7919|0.7201|0.7736|0.9444|gnomADe_EAS|pathogenic|0&1|1&1|29481575|||||||MENFQYSVQLSDQDWAEFSATADECGLLQAGLASGDELLSSDIDQGDSSGSSPPRAPPLPTGQLAAGGRSRRGCEEEDVATQQPVSRSQGEPVLALGTGQQTPSTSARAEAPPSLGPGASPPSQFSSCPGPASSGDQMQRLLQGPAPRPPGEPPGSPKSPGHSTGSQRPPDSPGAPPRSPSRKKRRAVGAKGGGHTGASASAQTGSPLLPAASPETAKLMAKAGQEELGPGPAGAPEPGPRSPVQEDRPGPGLGLSTPVPVTEQGTDQIRTPRRAKLHTVSTTVWEALPDVSRAKSDMAVSTPASEPQPDRDMAVSTPASEPQSDRDMAVSTPASEPQPDTDMAVSTPASEPQPDRDMAVSIPASKPQSDTAVSTPASEPQSSVALSTPISKPQLDTDVAVSTPASKHGLDVALPTAGPVAKLEVASSPPVSEAVPRMTESSGLVSTPVPRADAAGLAWPPTRRAGPDVVEMEAVVSEPSAGAPGCCSGAPALGLTQVPRKKKVRFSVAGPSPNKPGSGQASARPSAPQTATGAHGGPGAWEAVAVGPRPHQPRILKHLPRPPPSAVTRVGPGSSFAVTLPEAYEFFFCDTIEENEEAEAAAAGQDPAGVQWPDMCEFFFPDVGAQRSRRRGSPEPLPRADPVPAPIPGDPVPISIPEVYEHFFFGEDRLEGVLGPAVPLPLQALEPPRSASEGAGPGTPLKPAVVERLHLALRRAGELRGPVPSFAFSQNDMCLVFVAFATWAVRTSDPHTPDAWKTALLANVGTISAIRYFRRQVGQGRRSHSPSPSS||,G|non_coding_transcript_exon_variant|MODIFIER|PERM1|ENSG00000187642|Transcript|ENST00000479361|retained_intron|2/2||ENST00000479361.1:n.198T>C||198|||||rs7417106&COSV58020657||-1||SNV|HGNC|HGNC:28208||||1||||||||||||||0.7103|0.4092|0.8012|0.9246|0.7873|0.7526|0.7916|0.4733|0.8376|0.7507|0.9444|0.8181|0.7907|0.7593|0.7755|0.7147|0.4922|0.6956|0.7995|0.7693|0.9368|0.8133|0.693|0.7919|0.7201|0.7736|0.9444|gnomADe_EAS|pathogenic|0&1|1&1|29481575|||||||||,G|downstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000480267|retained_intron||||||||||rs7417106&COSV58020657|4692|1||SNV|HGNC|HGNC:25284||||3||||||||||||||0.7103|0.4092|0.8012|0.9246|0.7873|0.7526|0.7916|0.4733|0.8376|0.7507|0.9444|0.8181|0.7907|0.7593|0.7755|0.7147|0.4922|0.6956|0.7995|0.7693|0.9368|0.8133|0.693|0.7919|0.7201|0.7736|0.9444|gnomADe_EAS|pathogenic|0&1|1&1|29481575|||||||||,G|downstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000491024|protein_coding||||||||||rs7417106&COSV58020657|350|1|cds_start_NF|SNV|HGNC|HGNC:25284||||3|||ENSP00000462558||J3KSM5.48|UPI000268AE1F||||||||0.7103|0.4092|0.8012|0.9246|0.7873|0.7526|0.7916|0.4733|0.8376|0.7507|0.9444|0.8181|0.7907|0.7593|0.7755|0.7147|0.4922|0.6956|0.7995|0.7693|0.9368|0.8133|0.693|0.7919|0.7201|0.7736|0.9444|gnomADe_EAS|pathogenic|0&1|1&1|29481575|||||||SLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,G|missense_variant|MODERATE|PERM1|ENSG00000187642|Transcript|ENST00000694917|protein_coding|4/4||ENST00000694917.1:c.2330T>C|ENSP00000511592.1:p.Val777Ala|2401|2330|777|V/A|gTg/gCg|rs7417106&COSV58020657||-1||SNV|HGNC|HGNC:28208|||||P3|CCDS76083.1|ENSP00000511592|Q5SV97.110||UPI0003E30FA7|Q5SV97-1||tolerated(0.17)|benign(0.309)||||0.7103|0.4092|0.8012|0.9246|0.7873|0.7526|0.7916|0.4733|0.8376|0.7507|0.9444|0.8181|0.7907|0.7593|0.7755|0.7147|0.4922|0.6956|0.7995|0.7693|0.9368|0.8133|0.693|0.7919|0.7201|0.7736|0.9444|gnomADe_EAS|pathogenic|0&1|1&1|29481575|||||||MENFQYSVQLSDQDWAEFSATADECGLLQAGLASGDELLSSDIDQGDSSGSSPPRAPPLPTGQLAAGGRSRRGCEEEDVATQQPVSRSQGEPVLALGTGQQTPSTSARAEAPPSLGPGASPPSQFSSCPGPASSGDQMQRLLQGPAPRPPGEPPGSPKSPGHSTGSQRPPDSPGAPPRSPSRKKRRAVGAKGGGHTGASASAQTGSPLLPAASPETAKLMAKAGQEELGPGPAGAPEPGPRSPVQEDRPGPGLGLSTPVPVTEQGTDQIRTPRRAKLHTVSTTVWEALPDVSRAKSDMAVSTPASEPQPDRDMAVSTPASEPQSDRDMAVSTPASEPQPDTDMAVSTPASEPQPDRDMAVSIPASKPQSDTAVSTPASEPQSSVALSTPISKPQLDTDVAVSTPASKHGLDVALPTAGPVAKLEVASSPPVSEAVPRMTESSGLVSTPVPRADAAGLAWPPTRRAGPDVVEMEAVVSEPSAGAPGCCSGAPALGLTQVPRKKKVRFSVAGPSPNKPGSGQASARPSAPQTATGAHGGPGAWEAVAVGPRPHQPRILKHLPRPPPSAVTRVGPGSSFAVTLPEAYEFFFCDTIEENEEAEAAAAGQDPAGVQWPDMCEFFFPDVGAQRSRRRGSPEPLPRADPVPAPIPGDPVPISIPEVYEHFFFGEDRLEGVLGPAVPLPLQALEPPRSASEGAGPGTPLKPAVVERLHLALRRAGELRGPVPSFAFSQNDMCLVFVAFATWAVRTSDPHTPDAWKTALLANVGTISAIRYFRRQVGQGRRSHSPSPSS||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344444|promoter||||||||||rs7417106&COSV58020657||||SNV||||||||||||||||||||0.7103|0.4092|0.8012|0.9246|0.7873|0.7526|0.7916|0.4733|0.8376|0.7507|0.9444|0.8181|0.7907|0.7593|0.7755|0.7147|0.4922|0.6956|0.7995|0.7693|0.9368|0.8133|0.693|0.7919|0.7201|0.7736|0.9444|gnomADe_EAS|pathogenic|0&1|1&1|29481575|||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344446|CTCF_binding_site||||||||||rs7417106&COSV58020657||||SNV||||||||||||||||||||0.7103|0.4092|0.8012|0.9246|0.7873|0.7526|0.7916|0.4733|0.8376|0.7507|0.9444|0.8181|0.7907|0.7593|0.7755|0.7147|0.4922|0.6956|0.7995|0.7693|0.9368|0.8133|0.693|0.7919|0.7201|0.7736|0.9444|gnomADe_EAS|pathogenic|0&1|1&1|29481575|||||||||,G|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00498224013|||||||||||rs7417106&COSV58020657||-1||SNV||||||||||||||||||||0.7103|0.4092|0.8012|0.9246|0.7873|0.7526|0.7916|0.4733|0.8376|0.7507|0.9444|0.8181|0.7907|0.7593|0.7755|0.7147|0.4922|0.6956|0.7995|0.7693|0.9368|0.8133|0.693|0.7919|0.7201|0.7736|0.9444|gnomADe_EAS|pathogenic|0&1|1&1|29481575|ENSPFM0605|19|N|-0.031|TFAP4::MAX||||,G|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00205660333|||||||||||rs7417106&COSV58020657||1||SNV||||||||||||||||||||0.7103|0.4092|0.8012|0.9246|0.7873|0.7526|0.7916|0.4733|0.8376|0.7507|0.9444|0.8181|0.7907|0.7593|0.7755|0.7147|0.4922|0.6956|0.7995|0.7693|0.9368|0.8133|0.693|0.7919|0.7201|0.7736|0.9444|gnomADe_EAS|pathogenic|0&1|1&1|29481575|ENSPFM0139|2|N|-0.027|ETV2::DLX3&HOXB2::ELF1&HOXB2::ELK3||||,G|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00000166227|||||||||||rs7417106&COSV58020657||1||SNV||||||||||||||||||||0.7103|0.4092|0.8012|0.9246|0.7873|0.7526|0.7916|0.4733|0.8376|0.7507|0.9444|0.8181|0.7907|0.7593|0.7755|0.7147|0.4922|0.6956|0.7995|0.7693|0.9368|0.8133|0.693|0.7919|0.7201|0.7736|0.9444|gnomADe_EAS|pathogenic|0&1|1&1|29481575|ENSPFM0042|7|N|-0.028|CTCF||||,G|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00205865120|||||||||||rs7417106&COSV58020657||1||SNV||||||||||||||||||||0.7103|0.4092|0.8012|0.9246|0.7873|0.7526|0.7916|0.4733|0.8376|0.7507|0.9444|0.8181|0.7907|0.7593|0.7755|0.7147|0.4922|0.6956|0.7995|0.7693|0.9368|0.8133|0.693|0.7919|0.7201|0.7736|0.9444|gnomADe_EAS|pathogenic|0&1|1&1|29481575|ENSPFM0307|1|N|-0.024|HOXB2::ELF1|||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:12,6:0.332:18:1,0:5,3:7,3:5,7,3,3 -chr1 976215 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=9%2C8|2%2C3;DP=22;ECNT=1;GERMQ=50;MBQ=33,35;MFRL=0,0;MMQ=60,60;MPOS=69;POPAF=7.3;TLOD=15.83;SRC=custom;GRP=custom;CSQ=G|missense_variant|MODERATE|PERM1|ENSG00000187642|Transcript|ENST00000341290|protein_coding|5/5||ENST00000341290.6:c.1988T>C|ENSP00000343864.2:p.Val663Ala|2024|1988|663|V/A|gTg/gCg|rs7417106&COSV58020657||-1||SNV|HGNC|HGNC:28208||||2|A2|CCDS90836.1|ENSP00000343864|Q5SV97.110||UPI000022DAF4|Q5SV97-3||tolerated(0.14)|possibly_damaging(0.737)||||0.7103|0.4092|0.8012|0.9246|0.7873|0.7526|0.7916|0.4733|0.8376|0.7507|0.9444|0.8181|0.7907|0.7593|0.7755|0.7147|0.4922|0.6956|0.7995|0.7693|0.9368|0.8133|0.693|0.7919|0.7201|0.7736|0.9444|gnomADe_EAS|pathogenic|0&1|1&1|29481575|||||||MEPRGGGSSQFSSCPGPASSGDQMQRLLQGPAPRPPGEPPGSPKSPGHSTGSQRPPDSPGAPPRSPSRKKRRAVGAKGGGHTGASASAQTGSPLLPAASPETAKLMAKAGQEELGPGPAGAPEPGPRSPVQEDRPGPGLGLSTPVPVTEQGTDQIRTPRRAKLHTVSTTVWEALPDVSRAKSDMAVSTPASEPQPDRDMAVSTPASEPQSDRDMAVSTPASEPQPDTDMAVSTPASEPQPDRDMAVSIPASKPQSDTAVSTPASEPQSSVALSTPISKPQLDTDVAVSTPASKHGLDVALPTAGPVAKLEVASSPPVSEAVPRMTESSGLVSTPVPRADAAGLAWPPTRRAGPDVVEMEAVVSEPSAGAPGCCSGAPALGLTQVPRKKKVRFSVAGPSPNKPGSGQASARPSAPQTATGAHGGPGAWEAVAVGPRPHQPRILKHLPRPPPSAVTRVGPGSSFAVTLPEAYEFFFCDTIEENEEAEAAAAGQDPAGVQWPDMCEFFFPDVGAQRSRRRGSPEPLPRADPVPAPIPGDPVPISIPEVYEHFFFGEDRLEGVLGPAVPLPLQALEPPRSASEGAGPGTPLKPAVVERLHLALRRAGELRGPVPSFAFSQNDMCLVFVAFATWAVRTSDPHTPDAWKTALLANVGTISAIRYFRRQVGQGRRSHSPSPSS||,G|downstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding||||||||||rs7417106&COSV58020657|1207|1||SNV|HGNC|HGNC:25284||||1|A2|CCDS53256.1|ENSP00000368717|Q494U1.135||UPI00005764FF|Q494U1-3|||||||0.7103|0.4092|0.8012|0.9246|0.7873|0.7526|0.7916|0.4733|0.8376|0.7507|0.9444|0.8181|0.7907|0.7593|0.7755|0.7147|0.4922|0.6956|0.7995|0.7693|0.9368|0.8133|0.693|0.7919|0.7201|0.7736|0.9444|gnomADe_EAS|pathogenic|0&1|1&1|29481575|||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,G|downstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding||||||||||rs7417106&COSV58020657|1207|1||SNV|HGNC|HGNC:25284||||2|A2|CCDS90835.1|ENSP00000368719|Q494U1.135||UPI0000D61E06|Q494U1-2|||||||0.7103|0.4092|0.8012|0.9246|0.7873|0.7526|0.7916|0.4733|0.8376|0.7507|0.9444|0.8181|0.7907|0.7593|0.7755|0.7147|0.4922|0.6956|0.7995|0.7693|0.9368|0.8133|0.693|0.7919|0.7201|0.7736|0.9444|gnomADe_EAS|pathogenic|0&1|1&1|29481575|||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGVWDASRAPRGTPDPGLGEGPALWLRSTCVYVCALSALPAGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,G|downstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding||||||||||rs7417106&COSV58020657|350|1||SNV|HGNC|HGNC:25284|YES|NM_032129.3||1|P4|CCDS4.1|ENSP00000368720|Q494U1.135||UPI00001416D8|Q494U1-1|||||||0.7103|0.4092|0.8012|0.9246|0.7873|0.7526|0.7916|0.4733|0.8376|0.7507|0.9444|0.8181|0.7907|0.7593|0.7755|0.7147|0.4922|0.6956|0.7995|0.7693|0.9368|0.8133|0.693|0.7919|0.7201|0.7736|0.9444|gnomADe_EAS|pathogenic|0&1|1&1|29481575|||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,G|missense_variant|MODERATE|PERM1|ENSG00000187642|Transcript|ENST00000433179|protein_coding|4/4||ENST00000433179.4:c.2330T>C|ENSP00000414022.3:p.Val777Ala|2503|2330|777|V/A|gTg/gCg|rs7417106&COSV58020657||-1||SNV|HGNC|HGNC:28208|YES|NM_001394713.1||5|P3|CCDS76083.1|ENSP00000414022|Q5SV97.110||UPI0003E30FA7|Q5SV97-1||tolerated(0.17)|benign(0.309)||||0.7103|0.4092|0.8012|0.9246|0.7873|0.7526|0.7916|0.4733|0.8376|0.7507|0.9444|0.8181|0.7907|0.7593|0.7755|0.7147|0.4922|0.6956|0.7995|0.7693|0.9368|0.8133|0.693|0.7919|0.7201|0.7736|0.9444|gnomADe_EAS|pathogenic|0&1|1&1|29481575|||||||MENFQYSVQLSDQDWAEFSATADECGLLQAGLASGDELLSSDIDQGDSSGSSPPRAPPLPTGQLAAGGRSRRGCEEEDVATQQPVSRSQGEPVLALGTGQQTPSTSARAEAPPSLGPGASPPSQFSSCPGPASSGDQMQRLLQGPAPRPPGEPPGSPKSPGHSTGSQRPPDSPGAPPRSPSRKKRRAVGAKGGGHTGASASAQTGSPLLPAASPETAKLMAKAGQEELGPGPAGAPEPGPRSPVQEDRPGPGLGLSTPVPVTEQGTDQIRTPRRAKLHTVSTTVWEALPDVSRAKSDMAVSTPASEPQPDRDMAVSTPASEPQSDRDMAVSTPASEPQPDTDMAVSTPASEPQPDRDMAVSIPASKPQSDTAVSTPASEPQSSVALSTPISKPQLDTDVAVSTPASKHGLDVALPTAGPVAKLEVASSPPVSEAVPRMTESSGLVSTPVPRADAAGLAWPPTRRAGPDVVEMEAVVSEPSAGAPGCCSGAPALGLTQVPRKKKVRFSVAGPSPNKPGSGQASARPSAPQTATGAHGGPGAWEAVAVGPRPHQPRILKHLPRPPPSAVTRVGPGSSFAVTLPEAYEFFFCDTIEENEEAEAAAAGQDPAGVQWPDMCEFFFPDVGAQRSRRRGSPEPLPRADPVPAPIPGDPVPISIPEVYEHFFFGEDRLEGVLGPAVPLPLQALEPPRSASEGAGPGTPLKPAVVERLHLALRRAGELRGPVPSFAFSQNDMCLVFVAFATWAVRTSDPHTPDAWKTALLANVGTISAIRYFRRQVGQGRRSHSPSPSS||,G|non_coding_transcript_exon_variant|MODIFIER|PERM1|ENSG00000187642|Transcript|ENST00000479361|retained_intron|2/2||ENST00000479361.1:n.198T>C||198|||||rs7417106&COSV58020657||-1||SNV|HGNC|HGNC:28208||||1||||||||||||||0.7103|0.4092|0.8012|0.9246|0.7873|0.7526|0.7916|0.4733|0.8376|0.7507|0.9444|0.8181|0.7907|0.7593|0.7755|0.7147|0.4922|0.6956|0.7995|0.7693|0.9368|0.8133|0.693|0.7919|0.7201|0.7736|0.9444|gnomADe_EAS|pathogenic|0&1|1&1|29481575|||||||||,G|downstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000480267|retained_intron||||||||||rs7417106&COSV58020657|4692|1||SNV|HGNC|HGNC:25284||||3||||||||||||||0.7103|0.4092|0.8012|0.9246|0.7873|0.7526|0.7916|0.4733|0.8376|0.7507|0.9444|0.8181|0.7907|0.7593|0.7755|0.7147|0.4922|0.6956|0.7995|0.7693|0.9368|0.8133|0.693|0.7919|0.7201|0.7736|0.9444|gnomADe_EAS|pathogenic|0&1|1&1|29481575|||||||||,G|downstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000491024|protein_coding||||||||||rs7417106&COSV58020657|350|1|cds_start_NF|SNV|HGNC|HGNC:25284||||3|||ENSP00000462558||J3KSM5.48|UPI000268AE1F||||||||0.7103|0.4092|0.8012|0.9246|0.7873|0.7526|0.7916|0.4733|0.8376|0.7507|0.9444|0.8181|0.7907|0.7593|0.7755|0.7147|0.4922|0.6956|0.7995|0.7693|0.9368|0.8133|0.693|0.7919|0.7201|0.7736|0.9444|gnomADe_EAS|pathogenic|0&1|1&1|29481575|||||||SLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,G|missense_variant|MODERATE|PERM1|ENSG00000187642|Transcript|ENST00000694917|protein_coding|4/4||ENST00000694917.1:c.2330T>C|ENSP00000511592.1:p.Val777Ala|2401|2330|777|V/A|gTg/gCg|rs7417106&COSV58020657||-1||SNV|HGNC|HGNC:28208|||||P3|CCDS76083.1|ENSP00000511592|Q5SV97.110||UPI0003E30FA7|Q5SV97-1||tolerated(0.17)|benign(0.309)||||0.7103|0.4092|0.8012|0.9246|0.7873|0.7526|0.7916|0.4733|0.8376|0.7507|0.9444|0.8181|0.7907|0.7593|0.7755|0.7147|0.4922|0.6956|0.7995|0.7693|0.9368|0.8133|0.693|0.7919|0.7201|0.7736|0.9444|gnomADe_EAS|pathogenic|0&1|1&1|29481575|||||||MENFQYSVQLSDQDWAEFSATADECGLLQAGLASGDELLSSDIDQGDSSGSSPPRAPPLPTGQLAAGGRSRRGCEEEDVATQQPVSRSQGEPVLALGTGQQTPSTSARAEAPPSLGPGASPPSQFSSCPGPASSGDQMQRLLQGPAPRPPGEPPGSPKSPGHSTGSQRPPDSPGAPPRSPSRKKRRAVGAKGGGHTGASASAQTGSPLLPAASPETAKLMAKAGQEELGPGPAGAPEPGPRSPVQEDRPGPGLGLSTPVPVTEQGTDQIRTPRRAKLHTVSTTVWEALPDVSRAKSDMAVSTPASEPQPDRDMAVSTPASEPQSDRDMAVSTPASEPQPDTDMAVSTPASEPQPDRDMAVSIPASKPQSDTAVSTPASEPQSSVALSTPISKPQLDTDVAVSTPASKHGLDVALPTAGPVAKLEVASSPPVSEAVPRMTESSGLVSTPVPRADAAGLAWPPTRRAGPDVVEMEAVVSEPSAGAPGCCSGAPALGLTQVPRKKKVRFSVAGPSPNKPGSGQASARPSAPQTATGAHGGPGAWEAVAVGPRPHQPRILKHLPRPPPSAVTRVGPGSSFAVTLPEAYEFFFCDTIEENEEAEAAAAGQDPAGVQWPDMCEFFFPDVGAQRSRRRGSPEPLPRADPVPAPIPGDPVPISIPEVYEHFFFGEDRLEGVLGPAVPLPLQALEPPRSASEGAGPGTPLKPAVVERLHLALRRAGELRGPVPSFAFSQNDMCLVFVAFATWAVRTSDPHTPDAWKTALLANVGTISAIRYFRRQVGQGRRSHSPSPSS||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344444|promoter||||||||||rs7417106&COSV58020657||||SNV||||||||||||||||||||0.7103|0.4092|0.8012|0.9246|0.7873|0.7526|0.7916|0.4733|0.8376|0.7507|0.9444|0.8181|0.7907|0.7593|0.7755|0.7147|0.4922|0.6956|0.7995|0.7693|0.9368|0.8133|0.693|0.7919|0.7201|0.7736|0.9444|gnomADe_EAS|pathogenic|0&1|1&1|29481575|||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344446|CTCF_binding_site||||||||||rs7417106&COSV58020657||||SNV||||||||||||||||||||0.7103|0.4092|0.8012|0.9246|0.7873|0.7526|0.7916|0.4733|0.8376|0.7507|0.9444|0.8181|0.7907|0.7593|0.7755|0.7147|0.4922|0.6956|0.7995|0.7693|0.9368|0.8133|0.693|0.7919|0.7201|0.7736|0.9444|gnomADe_EAS|pathogenic|0&1|1&1|29481575|||||||||,G|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00498224013|||||||||||rs7417106&COSV58020657||-1||SNV||||||||||||||||||||0.7103|0.4092|0.8012|0.9246|0.7873|0.7526|0.7916|0.4733|0.8376|0.7507|0.9444|0.8181|0.7907|0.7593|0.7755|0.7147|0.4922|0.6956|0.7995|0.7693|0.9368|0.8133|0.693|0.7919|0.7201|0.7736|0.9444|gnomADe_EAS|pathogenic|0&1|1&1|29481575|ENSPFM0605|19|N|-0.031|TFAP4::MAX||||,G|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00205660333|||||||||||rs7417106&COSV58020657||1||SNV||||||||||||||||||||0.7103|0.4092|0.8012|0.9246|0.7873|0.7526|0.7916|0.4733|0.8376|0.7507|0.9444|0.8181|0.7907|0.7593|0.7755|0.7147|0.4922|0.6956|0.7995|0.7693|0.9368|0.8133|0.693|0.7919|0.7201|0.7736|0.9444|gnomADe_EAS|pathogenic|0&1|1&1|29481575|ENSPFM0139|2|N|-0.027|ETV2::DLX3&HOXB2::ELF1&HOXB2::ELK3||||,G|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00000166227|||||||||||rs7417106&COSV58020657||1||SNV||||||||||||||||||||0.7103|0.4092|0.8012|0.9246|0.7873|0.7526|0.7916|0.4733|0.8376|0.7507|0.9444|0.8181|0.7907|0.7593|0.7755|0.7147|0.4922|0.6956|0.7995|0.7693|0.9368|0.8133|0.693|0.7919|0.7201|0.7736|0.9444|gnomADe_EAS|pathogenic|0&1|1&1|29481575|ENSPFM0042|7|N|-0.028|CTCF||||,G|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00205865120|||||||||||rs7417106&COSV58020657||1||SNV||||||||||||||||||||0.7103|0.4092|0.8012|0.9246|0.7873|0.7526|0.7916|0.4733|0.8376|0.7507|0.9444|0.8181|0.7907|0.7593|0.7755|0.7147|0.4922|0.6956|0.7995|0.7693|0.9368|0.8133|0.693|0.7919|0.7201|0.7736|0.9444|gnomADe_EAS|pathogenic|0&1|1&1|29481575|ENSPFM0307|1|N|-0.024|HOXB2::ELF1|||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:17,5:0.286:22:0,0:9,2:9,3:9,8,2,3 -chr1 976485 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=27;POPAF=7.3;TLOD=7.25;SRC=custom;GRP=custom;CSQ=A|intron_variant|MODIFIER|PERM1|ENSG00000187642|Transcript|ENST00000341290|protein_coding||4/4|ENST00000341290.6:c.1933+14G>T|||||||||-1||SNV|HGNC|HGNC:28208||||2|A2|CCDS90836.1|ENSP00000343864|Q5SV97.110||UPI000022DAF4|Q5SV97-3|||||||||||||||||||||||||||||||||||||||||||||MEPRGGGSSQFSSCPGPASSGDQMQRLLQGPAPRPPGEPPGSPKSPGHSTGSQRPPDSPGAPPRSPSRKKRRAVGAKGGGHTGASASAQTGSPLLPAASPETAKLMAKAGQEELGPGPAGAPEPGPRSPVQEDRPGPGLGLSTPVPVTEQGTDQIRTPRRAKLHTVSTTVWEALPDVSRAKSDMAVSTPASEPQPDRDMAVSTPASEPQSDRDMAVSTPASEPQPDTDMAVSTPASEPQPDRDMAVSIPASKPQSDTAVSTPASEPQSSVALSTPISKPQLDTDVAVSTPASKHGLDVALPTAGPVAKLEVASSPPVSEAVPRMTESSGLVSTPVPRADAAGLAWPPTRRAGPDVVEMEAVVSEPSAGAPGCCSGAPALGLTQVPRKKKVRFSVAGPSPNKPGSGQASARPSAPQTATGAHGGPGAWEAVAVGPRPHQPRILKHLPRPPPSAVTRVGPGSSFAVTLPEAYEFFFCDTIEENEEAEAAAAGQDPAGVQWPDMCEFFFPDVGAQRSRRRGSPEPLPRADPVPAPIPGDPVPISIPEVYEHFFFGEDRLEGVLGPAVPLPLQALEPPRSASEGAGPGTPLKPAVVERLHLALRRAGELRGPVPSFAFSQNDMCLVFVAFATWAVRTSDPHTPDAWKTALLANVGTISAIRYFRRQVGQGRRSHSPSPSS||,A|downstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding|||||||||||1477|1||SNV|HGNC|HGNC:25284||||1|A2|CCDS53256.1|ENSP00000368717|Q494U1.135||UPI00005764FF|Q494U1-3|||||||||||||||||||||||||||||||||||||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,A|downstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding|||||||||||1477|1||SNV|HGNC|HGNC:25284||||2|A2|CCDS90835.1|ENSP00000368719|Q494U1.135||UPI0000D61E06|Q494U1-2|||||||||||||||||||||||||||||||||||||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGVWDASRAPRGTPDPGLGEGPALWLRSTCVYVCALSALPAGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,A|downstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding|||||||||||620|1||SNV|HGNC|HGNC:25284|YES|NM_032129.3||1|P4|CCDS4.1|ENSP00000368720|Q494U1.135||UPI00001416D8|Q494U1-1|||||||||||||||||||||||||||||||||||||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,A|intron_variant|MODIFIER|PERM1|ENSG00000187642|Transcript|ENST00000433179|protein_coding||3/3|ENST00000433179.4:c.2275+14G>T|||||||||-1||SNV|HGNC|HGNC:28208|YES|NM_001394713.1||5|P3|CCDS76083.1|ENSP00000414022|Q5SV97.110||UPI0003E30FA7|Q5SV97-1|||||||||||||||||||||||||||||||||||||||||||||MENFQYSVQLSDQDWAEFSATADECGLLQAGLASGDELLSSDIDQGDSSGSSPPRAPPLPTGQLAAGGRSRRGCEEEDVATQQPVSRSQGEPVLALGTGQQTPSTSARAEAPPSLGPGASPPSQFSSCPGPASSGDQMQRLLQGPAPRPPGEPPGSPKSPGHSTGSQRPPDSPGAPPRSPSRKKRRAVGAKGGGHTGASASAQTGSPLLPAASPETAKLMAKAGQEELGPGPAGAPEPGPRSPVQEDRPGPGLGLSTPVPVTEQGTDQIRTPRRAKLHTVSTTVWEALPDVSRAKSDMAVSTPASEPQPDRDMAVSTPASEPQSDRDMAVSTPASEPQPDTDMAVSTPASEPQPDRDMAVSIPASKPQSDTAVSTPASEPQSSVALSTPISKPQLDTDVAVSTPASKHGLDVALPTAGPVAKLEVASSPPVSEAVPRMTESSGLVSTPVPRADAAGLAWPPTRRAGPDVVEMEAVVSEPSAGAPGCCSGAPALGLTQVPRKKKVRFSVAGPSPNKPGSGQASARPSAPQTATGAHGGPGAWEAVAVGPRPHQPRILKHLPRPPPSAVTRVGPGSSFAVTLPEAYEFFFCDTIEENEEAEAAAAGQDPAGVQWPDMCEFFFPDVGAQRSRRRGSPEPLPRADPVPAPIPGDPVPISIPEVYEHFFFGEDRLEGVLGPAVPLPLQALEPPRSASEGAGPGTPLKPAVVERLHLALRRAGELRGPVPSFAFSQNDMCLVFVAFATWAVRTSDPHTPDAWKTALLANVGTISAIRYFRRQVGQGRRSHSPSPSS||,A|intron_variant&non_coding_transcript_variant|MODIFIER|PERM1|ENSG00000187642|Transcript|ENST00000479361|retained_intron||1/1|ENST00000479361.1:n.143+14G>T|||||||||-1||SNV|HGNC|HGNC:28208||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000480267|retained_intron|||||||||||4962|1||SNV|HGNC|HGNC:25284||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000491024|protein_coding|||||||||||620|1|cds_start_NF|SNV|HGNC|HGNC:25284||||3|||ENSP00000462558||J3KSM5.48|UPI000268AE1F||||||||||||||||||||||||||||||||||||||||||||||SLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,A|intron_variant|MODIFIER|PERM1|ENSG00000187642|Transcript|ENST00000694917|protein_coding||3/3|ENST00000694917.1:c.2275+14G>T|||||||||-1||SNV|HGNC|HGNC:28208|||||P3|CCDS76083.1|ENSP00000511592|Q5SV97.110||UPI0003E30FA7|Q5SV97-1|||||||||||||||||||||||||||||||||||||||||||||MENFQYSVQLSDQDWAEFSATADECGLLQAGLASGDELLSSDIDQGDSSGSSPPRAPPLPTGQLAAGGRSRRGCEEEDVATQQPVSRSQGEPVLALGTGQQTPSTSARAEAPPSLGPGASPPSQFSSCPGPASSGDQMQRLLQGPAPRPPGEPPGSPKSPGHSTGSQRPPDSPGAPPRSPSRKKRRAVGAKGGGHTGASASAQTGSPLLPAASPETAKLMAKAGQEELGPGPAGAPEPGPRSPVQEDRPGPGLGLSTPVPVTEQGTDQIRTPRRAKLHTVSTTVWEALPDVSRAKSDMAVSTPASEPQPDRDMAVSTPASEPQSDRDMAVSTPASEPQPDTDMAVSTPASEPQPDRDMAVSIPASKPQSDTAVSTPASEPQSSVALSTPISKPQLDTDVAVSTPASKHGLDVALPTAGPVAKLEVASSPPVSEAVPRMTESSGLVSTPVPRADAAGLAWPPTRRAGPDVVEMEAVVSEPSAGAPGCCSGAPALGLTQVPRKKKVRFSVAGPSPNKPGSGQASARPSAPQTATGAHGGPGAWEAVAVGPRPHQPRILKHLPRPPPSAVTRVGPGSSFAVTLPEAYEFFFCDTIEENEEAEAAAAGQDPAGVQWPDMCEFFFPDVGAQRSRRRGSPEPLPRADPVPAPIPGDPVPISIPEVYEHFFFGEDRLEGVLGPAVPLPLQALEPPRSASEGAGPGTPLKPAVVERLHLALRRAGELRGPVPSFAFSQNDMCLVFVAFATWAVRTSDPHTPDAWKTALLANVGTISAIRYFRRQVGQGRRSHSPSPSS||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344444|promoter||||||||||||||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344446|CTCF_binding_site||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 995371 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=48;POPAF=7.3;TLOD=7.45;SRC=custom;GRP=custom;CSQ=G|downstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000304952|protein_coding||||||||||rs3128111|3593|-1||SNV|HGNC|HGNC:24149|YES|NM_021170.4||1|P1|CCDS5.1|ENSP00000304595|Q9HCC6.164||UPI000006EC19||||||||0.3021|0.3419|0.2839|0.1607|0.3608|0.3466||||||||||0.3497|0.3207|0.467|0.2695|0.2998|0.1714|0.4303|0.3133|0.3886|0.3487|0.3348|0.467|gnomADg_AMI|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,G|downstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000428771|protein_coding||||||||||rs3128111|3591|-1||SNV|HGNC|HGNC:24149||||2||CCDS44034.1|ENSP00000393198||E9PB28.82|UPI0001881B51||||||||0.3021|0.3419|0.2839|0.1607|0.3608|0.3466||||||||||0.3497|0.3207|0.467|0.2695|0.2998|0.1714|0.4303|0.3133|0.3886|0.3487|0.3348|0.467|gnomADg_AMI|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKVGSRPGVRGATGGREGRGTQPVPDPQSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,G|downstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000481869|retained_intron||||||||||rs3128111|3595|-1||SNV|HGNC|HGNC:24149||||2||||||||||||||0.3021|0.3419|0.2839|0.1607|0.3608|0.3466||||||||||0.3497|0.3207|0.467|0.2695|0.2998|0.1714|0.4303|0.3133|0.3886|0.3487|0.3348|0.467|gnomADg_AMI|||||||||||||,G|downstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000484667|protein_coding||||||||||rs3128111|3599|-1||SNV|HGNC|HGNC:24149||||3||CCDS90837.1|ENSP00000425085||D6REB3.81|UPI0001D3BBEE||||||||0.3021|0.3419|0.2839|0.1607|0.3608|0.3466||||||||||0.3497|0.3207|0.467|0.2695|0.2998|0.1714|0.4303|0.3133|0.3886|0.3487|0.3348|0.467|gnomADg_AMI|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,G|downstream_gene_variant|MODIFIER||ENSG00000272512|Transcript|ENST00000606034|lncRNA||||||||||rs3128111|595|-1||SNV|||YES|||||||||||||||||0.3021|0.3419|0.2839|0.1607|0.3608|0.3466||||||||||0.3497|0.3207|0.467|0.2695|0.2998|0.1714|0.4303|0.3133|0.3886|0.3487|0.3348|0.467|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 997238 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=94;POPAF=7.3;TLOD=6.98;SRC=custom;GRP=custom;CSQ=G|downstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000304952|protein_coding||||||||||rs3128112|1726|-1||SNV|HGNC|HGNC:24149|YES|NM_021170.4||1|P1|CCDS5.1|ENSP00000304595|Q9HCC6.164||UPI000006EC19||||||||0.9647|0.9357|0.9524|0.999|0.9573|0.9847||||||||||0.9611|0.9482|0.9803|0.9649|0.9404|0.9998|0.9788|0.9177|0.9619|0.956|0.9833|0.9998|gnomADg_EAS|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,G|downstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000428771|protein_coding||||||||||rs3128112|1724|-1||SNV|HGNC|HGNC:24149||||2||CCDS44034.1|ENSP00000393198||E9PB28.82|UPI0001881B51||||||||0.9647|0.9357|0.9524|0.999|0.9573|0.9847||||||||||0.9611|0.9482|0.9803|0.9649|0.9404|0.9998|0.9788|0.9177|0.9619|0.956|0.9833|0.9998|gnomADg_EAS|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKVGSRPGVRGATGGREGRGTQPVPDPQSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,G|downstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000481869|retained_intron||||||||||rs3128112|1728|-1||SNV|HGNC|HGNC:24149||||2||||||||||||||0.9647|0.9357|0.9524|0.999|0.9573|0.9847||||||||||0.9611|0.9482|0.9803|0.9649|0.9404|0.9998|0.9788|0.9177|0.9619|0.956|0.9833|0.9998|gnomADg_EAS|||||||||||||,G|downstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000484667|protein_coding||||||||||rs3128112|1732|-1||SNV|HGNC|HGNC:24149||||3||CCDS90837.1|ENSP00000425085||D6REB3.81|UPI0001D3BBEE||||||||0.9647|0.9357|0.9524|0.999|0.9573|0.9847||||||||||0.9611|0.9482|0.9803|0.9649|0.9404|0.9998|0.9788|0.9177|0.9619|0.956|0.9833|0.9998|gnomADg_EAS|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000272512|Transcript|ENST00000606034|lncRNA|1/1||ENST00000606034.1:n.814G>C||814|||||rs3128112||-1||SNV|||YES|||||||||||||||||0.9647|0.9357|0.9524|0.999|0.9573|0.9847||||||||||0.9611|0.9482|0.9803|0.9649|0.9404|0.9998|0.9788|0.9177|0.9619|0.956|0.9833|0.9998|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding||||||||||rs3128112|3907|1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||0.9647|0.9357|0.9524|0.999|0.9573|0.9847||||||||||0.9611|0.9482|0.9803|0.9649|0.9404|0.9998|0.9788|0.9177|0.9619|0.956|0.9833|0.9998|gnomADg_EAS|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,G|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding||||||||||rs3128112|3900|1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||0.9647|0.9357|0.9524|0.999|0.9573|0.9847||||||||||0.9611|0.9482|0.9803|0.9649|0.9404|0.9998|0.9788|0.9177|0.9619|0.956|0.9833|0.9998|gnomADg_EAS|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.75:2:0,0:0,2:0,2:0,0,2,0 -chr1 997987 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,28;MFRL=0,0;MMQ=60,60;MPOS=94;POPAF=7.3;TLOD=6.25;SRC=custom;GRP=custom;CSQ=A|downstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000304952|protein_coding||||||||||rs565154156|977|-1||SNV|HGNC|HGNC:24149|YES|NM_021170.4||1|P1|CCDS5.1|ENSP00000304595|Q9HCC6.164||UPI000006EC19||||||||0.0002|0|0|0|0|0.001||||||||||4.599e-05|0|0|0|0|0|0|0|5.881e-05|0|0.0006203|0.001|SAS|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,A|downstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000428771|protein_coding||||||||||rs565154156|975|-1||SNV|HGNC|HGNC:24149||||2||CCDS44034.1|ENSP00000393198||E9PB28.82|UPI0001881B51||||||||0.0002|0|0|0|0|0.001||||||||||4.599e-05|0|0|0|0|0|0|0|5.881e-05|0|0.0006203|0.001|SAS|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKVGSRPGVRGATGGREGRGTQPVPDPQSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,A|downstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000481869|retained_intron||||||||||rs565154156|979|-1||SNV|HGNC|HGNC:24149||||2||||||||||||||0.0002|0|0|0|0|0.001||||||||||4.599e-05|0|0|0|0|0|0|0|5.881e-05|0|0.0006203|0.001|SAS|||||||||||||,A|downstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000484667|protein_coding||||||||||rs565154156|983|-1||SNV|HGNC|HGNC:24149||||3||CCDS90837.1|ENSP00000425085||D6REB3.81|UPI0001D3BBEE||||||||0.0002|0|0|0|0|0.001||||||||||4.599e-05|0|0|0|0|0|0|0|5.881e-05|0|0.0006203|0.001|SAS|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000272512|Transcript|ENST00000606034|lncRNA|1/1||ENST00000606034.1:n.65C>T||65|||||rs565154156||-1||SNV|||YES|||||||||||||||||0.0002|0|0|0|0|0.001||||||||||4.599e-05|0|0|0|0|0|0|0|5.881e-05|0|0.0006203|0.001|SAS|||||||||||||,A|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding||||||||||rs565154156|3158|1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||0.0002|0|0|0|0|0.001||||||||||4.599e-05|0|0|0|0|0|0|0|5.881e-05|0|0.0006203|0.001|SAS|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,A|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding||||||||||rs565154156|3151|1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||0.0002|0|0|0|0|0.001||||||||||4.599e-05|0|0|0|0|0|0|0|5.881e-05|0|0.0006203|0.001|SAS|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000118|promoter||||||||||rs565154156||||SNV||||||||||||||||||||0.0002|0|0|0|0|0.001||||||||||4.599e-05|0|0|0|0|0|0|0|5.881e-05|0|0.0006203|0.001|SAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 998410 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=138;POPAF=7.3;TLOD=3.48;SRC=custom;GRP=custom;CSQ=A|downstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000304952|protein_coding||||||||||rs9442392|554|-1||SNV|HGNC|HGNC:24149|YES|NM_021170.4||1|P1|CCDS5.1|ENSP00000304595|Q9HCC6.164||UPI000006EC19||||||||0.5393|0.1952|0.6383|0.7758|0.5944|0.6339||||||||||0.4998|0.2565|0.5121|0.6497|0.6349|0.7709|0.5302|0.5732|0.5708|0.5282|0.6379|0.7758|EAS|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,A|downstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000428771|protein_coding||||||||||rs9442392|552|-1||SNV|HGNC|HGNC:24149||||2||CCDS44034.1|ENSP00000393198||E9PB28.82|UPI0001881B51||||||||0.5393|0.1952|0.6383|0.7758|0.5944|0.6339||||||||||0.4998|0.2565|0.5121|0.6497|0.6349|0.7709|0.5302|0.5732|0.5708|0.5282|0.6379|0.7758|EAS|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKVGSRPGVRGATGGREGRGTQPVPDPQSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,A|downstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000481869|retained_intron||||||||||rs9442392|556|-1||SNV|HGNC|HGNC:24149||||2||||||||||||||0.5393|0.1952|0.6383|0.7758|0.5944|0.6339||||||||||0.4998|0.2565|0.5121|0.6497|0.6349|0.7709|0.5302|0.5732|0.5708|0.5282|0.6379|0.7758|EAS|||||||||||||,A|downstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000484667|protein_coding||||||||||rs9442392|560|-1||SNV|HGNC|HGNC:24149||||3||CCDS90837.1|ENSP00000425085||D6REB3.81|UPI0001D3BBEE||||||||0.5393|0.1952|0.6383|0.7758|0.5944|0.6339||||||||||0.4998|0.2565|0.5121|0.6497|0.6349|0.7709|0.5302|0.5732|0.5708|0.5282|0.6379|0.7758|EAS|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,A|upstream_gene_variant|MODIFIER||ENSG00000272512|Transcript|ENST00000606034|lncRNA||||||||||rs9442392|359|-1||SNV|||YES|||||||||||||||||0.5393|0.1952|0.6383|0.7758|0.5944|0.6339||||||||||0.4998|0.2565|0.5121|0.6497|0.6349|0.7709|0.5302|0.5732|0.5708|0.5282|0.6379|0.7758|EAS|||||||||||||,A|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding||||||||||rs9442392|2735|1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||0.5393|0.1952|0.6383|0.7758|0.5944|0.6339||||||||||0.4998|0.2565|0.5121|0.6497|0.6349|0.7709|0.5302|0.5732|0.5708|0.5282|0.6379|0.7758|EAS|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,A|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding||||||||||rs9442392|2728|1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||0.5393|0.1952|0.6383|0.7758|0.5944|0.6339||||||||||0.4998|0.2565|0.5121|0.6497|0.6349|0.7709|0.5302|0.5732|0.5708|0.5282|0.6379|0.7758|EAS|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000118|promoter||||||||||rs9442392||||SNV||||||||||||||||||||0.5393|0.1952|0.6383|0.7758|0.5944|0.6339||||||||||0.4998|0.2565|0.5121|0.6497|0.6349|0.7709|0.5302|0.5732|0.5708|0.5282|0.6379|0.7758|EAS|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918386|CTCF_binding_site||||||||||rs9442392||||SNV||||||||||||||||||||0.5393|0.1952|0.6383|0.7758|0.5944|0.6339||||||||||0.4998|0.2565|0.5121|0.6497|0.6349|0.7709|0.5302|0.5732|0.5708|0.5282|0.6379|0.7758|EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 998981 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=35%2C17|1%2C1;DP=54;ECNT=3;GERMQ=93;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=131;POPAF=7.3;TLOD=4.51;SRC=custom;GRP=custom;CSQ=C|3_prime_UTR_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000304952|protein_coding|4/4||ENST00000304952.11:c.*78A>G||868|||||rs1643977074||-1||SNV|HGNC|HGNC:24149|YES|NM_021170.4||1|P1|CCDS5.1|ENSP00000304595|Q9HCC6.164||UPI000006EC19||||||||||||||||||||||||||||||||||||||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,C|3_prime_UTR_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000428771|protein_coding|3/3||ENST00000428771.6:c.*78A>G||1021|||||rs1643977074||-1||SNV|HGNC|HGNC:24149||||2||CCDS44034.1|ENSP00000393198||E9PB28.82|UPI0001881B51||||||||||||||||||||||||||||||||||||||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKVGSRPGVRGATGGREGRGTQPVPDPQSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,C|non_coding_transcript_exon_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000481869|retained_intron|2/2||ENST00000481869.1:n.1023A>G||1023|||||rs1643977074||-1||SNV|HGNC|HGNC:24149||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|3_prime_UTR_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000484667|protein_coding|3/3||ENST00000484667.2:c.*78A>G||656|||||rs1643977074||-1||SNV|HGNC|HGNC:24149||||3||CCDS90837.1|ENSP00000425085||D6REB3.81|UPI0001D3BBEE||||||||||||||||||||||||||||||||||||||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,C|upstream_gene_variant|MODIFIER||ENSG00000272512|Transcript|ENST00000606034|lncRNA||||||||||rs1643977074|930|-1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding||||||||||rs1643977074|2164|1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||||||||||||||||||||||||||||||||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,C|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding||||||||||rs1643977074|2157|1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||||||||||||||||||||||||||||||||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000118|promoter||||||||||rs1643977074||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:52,2:0.052:54:2,0:28,1:36,1:35,17,1,1 -chr1 998982 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=39%2C19|1%2C1;DP=71;ECNT=3;GERMQ=93;MBQ=33,31;MFRL=0,0;MMQ=60,60;MPOS=125;POPAF=7.3;TLOD=3.89;SRC=custom;GRP=custom;CSQ=C|3_prime_UTR_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000304952|protein_coding|4/4||ENST00000304952.11:c.*77A>G||867|||||||-1||SNV|HGNC|HGNC:24149|YES|NM_021170.4||1|P1|CCDS5.1|ENSP00000304595|Q9HCC6.164||UPI000006EC19||||||||||||||||||||||||||||||||||||||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,C|3_prime_UTR_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000428771|protein_coding|3/3||ENST00000428771.6:c.*77A>G||1020|||||||-1||SNV|HGNC|HGNC:24149||||2||CCDS44034.1|ENSP00000393198||E9PB28.82|UPI0001881B51||||||||||||||||||||||||||||||||||||||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKVGSRPGVRGATGGREGRGTQPVPDPQSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,C|non_coding_transcript_exon_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000481869|retained_intron|2/2||ENST00000481869.1:n.1022A>G||1022|||||||-1||SNV|HGNC|HGNC:24149||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|3_prime_UTR_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000484667|protein_coding|3/3||ENST00000484667.2:c.*77A>G||655|||||||-1||SNV|HGNC|HGNC:24149||||3||CCDS90837.1|ENSP00000425085||D6REB3.81|UPI0001D3BBEE||||||||||||||||||||||||||||||||||||||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,C|upstream_gene_variant|MODIFIER||ENSG00000272512|Transcript|ENST00000606034|lncRNA|||||||||||931|-1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding|||||||||||2163|1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||||||||||||||||||||||||||||||||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,C|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding|||||||||||2156|1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||||||||||||||||||||||||||||||||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000118|promoter||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:58,2:0.045:60:2,0:31,1:40,1:39,19,1,1 -chr1 999005 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=33%2C28|28%2C18;DP=108;ECNT=2;GERMQ=36;MBQ=34,32;MFRL=0,0;MMQ=60,60;MPOS=124;POPAF=7.3;TLOD=151.05;SRC=custom;GRP=custom;CSQ=A|3_prime_UTR_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000304952|protein_coding|4/4||ENST00000304952.11:c.*54C>T||844|||||rs186167017||-1||SNV|HGNC|HGNC:24149|YES|NM_021170.4||1|P1|CCDS5.1|ENSP00000304595|Q9HCC6.164||UPI000006EC19||||||||0.0032|0|0.0058|0.001|0.0089|0.002||||||||||0.007314|0.002293|0.07127|0.005115|0.005184|0|0.0008608|0.006369|0.01197|0.006214|0.003721|0.07127|gnomADg_AMI|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,A|3_prime_UTR_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000428771|protein_coding|3/3||ENST00000428771.6:c.*54C>T||997|||||rs186167017||-1||SNV|HGNC|HGNC:24149||||2||CCDS44034.1|ENSP00000393198||E9PB28.82|UPI0001881B51||||||||0.0032|0|0.0058|0.001|0.0089|0.002||||||||||0.007314|0.002293|0.07127|0.005115|0.005184|0|0.0008608|0.006369|0.01197|0.006214|0.003721|0.07127|gnomADg_AMI|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKVGSRPGVRGATGGREGRGTQPVPDPQSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,A|non_coding_transcript_exon_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000481869|retained_intron|2/2||ENST00000481869.1:n.999C>T||999|||||rs186167017||-1||SNV|HGNC|HGNC:24149||||2||||||||||||||0.0032|0|0.0058|0.001|0.0089|0.002||||||||||0.007314|0.002293|0.07127|0.005115|0.005184|0|0.0008608|0.006369|0.01197|0.006214|0.003721|0.07127|gnomADg_AMI|||||||||||||,A|3_prime_UTR_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000484667|protein_coding|3/3||ENST00000484667.2:c.*54C>T||632|||||rs186167017||-1||SNV|HGNC|HGNC:24149||||3||CCDS90837.1|ENSP00000425085||D6REB3.81|UPI0001D3BBEE||||||||0.0032|0|0.0058|0.001|0.0089|0.002||||||||||0.007314|0.002293|0.07127|0.005115|0.005184|0|0.0008608|0.006369|0.01197|0.006214|0.003721|0.07127|gnomADg_AMI|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,A|upstream_gene_variant|MODIFIER||ENSG00000272512|Transcript|ENST00000606034|lncRNA||||||||||rs186167017|954|-1||SNV|||YES|||||||||||||||||0.0032|0|0.0058|0.001|0.0089|0.002||||||||||0.007314|0.002293|0.07127|0.005115|0.005184|0|0.0008608|0.006369|0.01197|0.006214|0.003721|0.07127|gnomADg_AMI|||||||||||||,A|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding||||||||||rs186167017|2140|1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||0.0032|0|0.0058|0.001|0.0089|0.002||||||||||0.007314|0.002293|0.07127|0.005115|0.005184|0|0.0008608|0.006369|0.01197|0.006214|0.003721|0.07127|gnomADg_AMI|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,A|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding||||||||||rs186167017|2133|1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||0.0032|0|0.0058|0.001|0.0089|0.002||||||||||0.007314|0.002293|0.07127|0.005115|0.005184|0|0.0008608|0.006369|0.01197|0.006214|0.003721|0.07127|gnomADg_AMI|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000118|promoter||||||||||rs186167017||||SNV||||||||||||||||||||0.0032|0|0.0058|0.001|0.0089|0.002||||||||||0.007314|0.002293|0.07127|0.005115|0.005184|0|0.0008608|0.006369|0.01197|0.006214|0.003721|0.07127|gnomADg_AMI|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164808|CTCF_binding_site||||||||||rs186167017||||SNV||||||||||||||||||||0.0032|0|0.0058|0.001|0.0089|0.002||||||||||0.007314|0.002293|0.07127|0.005115|0.005184|0|0.0008608|0.006369|0.01197|0.006214|0.003721|0.07127|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:61,46:0.46:107:0,0:33,28:33,28:33,28,28,18 -chr1 999005 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=35%2C24|36%2C23;DP=119;ECNT=3;GERMQ=31;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=108;POPAF=7.3;TLOD=201.72;SRC=custom;GRP=custom;CSQ=A|3_prime_UTR_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000304952|protein_coding|4/4||ENST00000304952.11:c.*54C>T||844|||||rs186167017||-1||SNV|HGNC|HGNC:24149|YES|NM_021170.4||1|P1|CCDS5.1|ENSP00000304595|Q9HCC6.164||UPI000006EC19||||||||0.0032|0|0.0058|0.001|0.0089|0.002||||||||||0.007314|0.002293|0.07127|0.005115|0.005184|0|0.0008608|0.006369|0.01197|0.006214|0.003721|0.07127|gnomADg_AMI|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,A|3_prime_UTR_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000428771|protein_coding|3/3||ENST00000428771.6:c.*54C>T||997|||||rs186167017||-1||SNV|HGNC|HGNC:24149||||2||CCDS44034.1|ENSP00000393198||E9PB28.82|UPI0001881B51||||||||0.0032|0|0.0058|0.001|0.0089|0.002||||||||||0.007314|0.002293|0.07127|0.005115|0.005184|0|0.0008608|0.006369|0.01197|0.006214|0.003721|0.07127|gnomADg_AMI|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKVGSRPGVRGATGGREGRGTQPVPDPQSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,A|non_coding_transcript_exon_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000481869|retained_intron|2/2||ENST00000481869.1:n.999C>T||999|||||rs186167017||-1||SNV|HGNC|HGNC:24149||||2||||||||||||||0.0032|0|0.0058|0.001|0.0089|0.002||||||||||0.007314|0.002293|0.07127|0.005115|0.005184|0|0.0008608|0.006369|0.01197|0.006214|0.003721|0.07127|gnomADg_AMI|||||||||||||,A|3_prime_UTR_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000484667|protein_coding|3/3||ENST00000484667.2:c.*54C>T||632|||||rs186167017||-1||SNV|HGNC|HGNC:24149||||3||CCDS90837.1|ENSP00000425085||D6REB3.81|UPI0001D3BBEE||||||||0.0032|0|0.0058|0.001|0.0089|0.002||||||||||0.007314|0.002293|0.07127|0.005115|0.005184|0|0.0008608|0.006369|0.01197|0.006214|0.003721|0.07127|gnomADg_AMI|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,A|upstream_gene_variant|MODIFIER||ENSG00000272512|Transcript|ENST00000606034|lncRNA||||||||||rs186167017|954|-1||SNV|||YES|||||||||||||||||0.0032|0|0.0058|0.001|0.0089|0.002||||||||||0.007314|0.002293|0.07127|0.005115|0.005184|0|0.0008608|0.006369|0.01197|0.006214|0.003721|0.07127|gnomADg_AMI|||||||||||||,A|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding||||||||||rs186167017|2140|1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||0.0032|0|0.0058|0.001|0.0089|0.002||||||||||0.007314|0.002293|0.07127|0.005115|0.005184|0|0.0008608|0.006369|0.01197|0.006214|0.003721|0.07127|gnomADg_AMI|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,A|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding||||||||||rs186167017|2133|1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||0.0032|0|0.0058|0.001|0.0089|0.002||||||||||0.007314|0.002293|0.07127|0.005115|0.005184|0|0.0008608|0.006369|0.01197|0.006214|0.003721|0.07127|gnomADg_AMI|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000118|promoter||||||||||rs186167017||||SNV||||||||||||||||||||0.0032|0|0.0058|0.001|0.0089|0.002||||||||||0.007314|0.002293|0.07127|0.005115|0.005184|0|0.0008608|0.006369|0.01197|0.006214|0.003721|0.07127|gnomADg_AMI|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164808|CTCF_binding_site||||||||||rs186167017||||SNV||||||||||||||||||||0.0032|0|0.0058|0.001|0.0089|0.002||||||||||0.007314|0.002293|0.07127|0.005115|0.005184|0|0.0008608|0.006369|0.01197|0.006214|0.003721|0.07127|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:59,59:0.514:118:0,3:34,34:35,37:35,24,36,23 -chr1 999409 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=27%2C40|1%2C1;DP=69;ECNT=1;GERMQ=93;MBQ=32,34;MFRL=0,0;MMQ=60,60;MPOS=5;POPAF=7.3;TLOD=4.28;SRC=custom;GRP=custom;CSQ=G|missense_variant|MODERATE|HES4|ENSG00000188290|Transcript|ENST00000304952|protein_coding|4/4||ENST00000304952.11:c.316G>C|ENSP00000304595.7:p.Val106Leu|440|316|106|V/L|Gtt/Ctt|rs1054739037||-1||SNV|HGNC|HGNC:24149|YES|NM_021170.4||1|P1|CCDS5.1|ENSP00000304595|Q9HCC6.164||UPI000006EC19|||deleterious(0.04)|benign(0.052)|||||||||||||||||||6.588e-06|2.414e-05|0|0|0|0|0|0|0|0|0|2.414e-05|gnomADg_AFR|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,G|missense_variant|MODERATE|HES4|ENSG00000188290|Transcript|ENST00000428771|protein_coding|3/3||ENST00000428771.6:c.394G>C|ENSP00000393198.2:p.Val132Leu|593|394|132|V/L|Gtt/Ctt|rs1054739037||-1||SNV|HGNC|HGNC:24149||||2||CCDS44034.1|ENSP00000393198||E9PB28.82|UPI0001881B51|||deleterious(0.03)|benign(0.033)|||||||||||||||||||6.588e-06|2.414e-05|0|0|0|0|0|0|0|0|0|2.414e-05|gnomADg_AFR|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKVGSRPGVRGATGGREGRGTQPVPDPQSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,G|non_coding_transcript_exon_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000481869|retained_intron|2/2||ENST00000481869.1:n.595G>C||595|||||rs1054739037||-1||SNV|HGNC|HGNC:24149||||2|||||||||||||||||||||||||||||6.588e-06|2.414e-05|0|0|0|0|0|0|0|0|0|2.414e-05|gnomADg_AFR|||||||||||||,G|missense_variant|MODERATE|HES4|ENSG00000188290|Transcript|ENST00000484667|protein_coding|3/3||ENST00000484667.2:c.220G>C|ENSP00000425085.1:p.Val74Leu|228|220|74|V/L|Gtt/Ctt|rs1054739037||-1||SNV|HGNC|HGNC:24149||||3||CCDS90837.1|ENSP00000425085||D6REB3.81|UPI0001D3BBEE|||deleterious(0.01)|benign(0.077)|||||||||||||||||||6.588e-06|2.414e-05|0|0|0|0|0|0|0|0|0|2.414e-05|gnomADg_AFR|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,G|upstream_gene_variant|MODIFIER||ENSG00000272512|Transcript|ENST00000606034|lncRNA||||||||||rs1054739037|1358|-1||SNV|||YES||||||||||||||||||||||||||||||||6.588e-06|2.414e-05|0|0|0|0|0|0|0|0|0|2.414e-05|gnomADg_AFR|||||||||||||,G|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding||||||||||rs1054739037|1736|1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1|||||||||||||||||||||6.588e-06|2.414e-05|0|0|0|0|0|0|0|0|0|2.414e-05|gnomADg_AFR|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,G|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding||||||||||rs1054739037|1729|1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1|||||||||||||||||||||6.588e-06|2.414e-05|0|0|0|0|0|0|0|0|0|2.414e-05|gnomADg_AFR|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000118|promoter||||||||||rs1054739037||||SNV|||||||||||||||||||||||||||||||||||6.588e-06|2.414e-05|0|0|0|0|0|0|0|0|0|2.414e-05|gnomADg_AFR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:67,2:0.04:69:18,0:27,1:47,1:27,40,1,1 -chr1 999577 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=25%2C28|1%2C1;DP=55;ECNT=1;GERMQ=93;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=84;POPAF=7.3;TLOD=4.24;SRC=custom;GRP=custom;CSQ=A|synonymous_variant|LOW|HES4|ENSG00000188290|Transcript|ENST00000304952|protein_coding|3/4||ENST00000304952.11:c.241C>T|ENSP00000304595.7:p.Leu81%3D|365|241|81|L|Ctg/Ttg|||-1||SNV|HGNC|HGNC:24149|YES|NM_021170.4||1|P1|CCDS5.1|ENSP00000304595|Q9HCC6.164||UPI000006EC19||||||||||||||||||||||||||||||||||||||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,A|synonymous_variant|LOW|HES4|ENSG00000188290|Transcript|ENST00000428771|protein_coding|2/3||ENST00000428771.6:c.319C>T|ENSP00000393198.2:p.Leu107%3D|518|319|107|L|Ctg/Ttg|||-1||SNV|HGNC|HGNC:24149||||2||CCDS44034.1|ENSP00000393198||E9PB28.82|UPI0001881B51||||||||||||||||||||||||||||||||||||||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKVGSRPGVRGATGGREGRGTQPVPDPQSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,A|non_coding_transcript_exon_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000481869|retained_intron|1/2||ENST00000481869.1:n.520C>T||520|||||||-1||SNV|HGNC|HGNC:24149||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|synonymous_variant|LOW|HES4|ENSG00000188290|Transcript|ENST00000484667|protein_coding|2/3||ENST00000484667.2:c.145C>T|ENSP00000425085.1:p.Leu49%3D|153|145|49|L|Ctg/Ttg|||-1||SNV|HGNC|HGNC:24149||||3||CCDS90837.1|ENSP00000425085||D6REB3.81|UPI0001D3BBEE||||||||||||||||||||||||||||||||||||||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,A|upstream_gene_variant|MODIFIER||ENSG00000272512|Transcript|ENST00000606034|lncRNA|||||||||||1526|-1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding|||||||||||1568|1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||||||||||||||||||||||||||||||||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,A|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding|||||||||||1561|1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||||||||||||||||||||||||||||||||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000118|promoter||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:53,2:0.048:55:13,0:25,1:39,1:25,28,1,1 -chr1 999842 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4%2C5|18%2C20;DP=52;ECNT=1;GERMQ=69;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=39;POPAF=7.3;TLOD=126.5;SRC=custom;GRP=custom;CSQ=A|intron_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000304952|protein_coding||1/3|ENST00000304952.11:c.108+24G>T|||||||rs2298214&COSV59241795||-1||SNV|HGNC|HGNC:24149|YES|NM_021170.4||1|P1|CCDS5.1|ENSP00000304595|Q9HCC6.164||UPI000006EC19||||||||0.4938|0.0356|0.6268|0.7718|0.5895|0.6339|0.6136|0.1208|0.7139|0.6344|0.786|0.5555|0.595|0.5882|0.6625|0.4573|0.1137|0.5154|0.6295|0.6331|0.767|0.5288|0.5573|0.5694|0.4981|0.6384|0.786|gnomADe_EAS||0&1|1&1|36477530&28849102&34594039&32203549|||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,A|missense_variant|MODERATE|HES4|ENSG00000188290|Transcript|ENST00000428771|protein_coding|1/3||ENST00000428771.6:c.132G>T|ENSP00000393198.2:p.Arg44Ser|331|132|44|R/S|agG/agT|rs2298214&COSV59241795||-1||SNV|HGNC|HGNC:24149||||2||CCDS44034.1|ENSP00000393198||E9PB28.82|UPI0001881B51|||tolerated_low_confidence(0.69)|benign(0)||||0.4938|0.0356|0.6268|0.7718|0.5895|0.6339|0.6136|0.1208|0.7139|0.6344|0.786|0.5555|0.595|0.5882|0.6625|0.4573|0.1137|0.5154|0.6295|0.6331|0.767|0.5288|0.5573|0.5694|0.4981|0.6384|0.786|gnomADe_EAS||0&1|1&1|36477530&28849102&34594039&32203549|||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKVGSRPGVRGATGGREGRGTQPVPDPQSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,A|non_coding_transcript_exon_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000481869|retained_intron|1/2||ENST00000481869.1:n.255G>T||255|||||rs2298214&COSV59241795||-1||SNV|HGNC|HGNC:24149||||2||||||||||||||0.4938|0.0356|0.6268|0.7718|0.5895|0.6339|0.6136|0.1208|0.7139|0.6344|0.786|0.5555|0.595|0.5882|0.6625|0.4573|0.1137|0.5154|0.6295|0.6331|0.767|0.5288|0.5573|0.5694|0.4981|0.6384|0.786|gnomADe_EAS||0&1|1&1|36477530&28849102&34594039&32203549|||||||||,A|intron_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000484667|protein_coding||1/2|ENST00000484667.2:c.108+24G>T|||||||rs2298214&COSV59241795||-1||SNV|HGNC|HGNC:24149||||3||CCDS90837.1|ENSP00000425085||D6REB3.81|UPI0001D3BBEE||||||||0.4938|0.0356|0.6268|0.7718|0.5895|0.6339|0.6136|0.1208|0.7139|0.6344|0.786|0.5555|0.595|0.5882|0.6625|0.4573|0.1137|0.5154|0.6295|0.6331|0.767|0.5288|0.5573|0.5694|0.4981|0.6384|0.786|gnomADe_EAS||0&1|1&1|36477530&28849102&34594039&32203549|||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,A|upstream_gene_variant|MODIFIER||ENSG00000272512|Transcript|ENST00000606034|lncRNA||||||||||rs2298214&COSV59241795|1791|-1||SNV|||YES|||||||||||||||||0.4938|0.0356|0.6268|0.7718|0.5895|0.6339|0.6136|0.1208|0.7139|0.6344|0.786|0.5555|0.595|0.5882|0.6625|0.4573|0.1137|0.5154|0.6295|0.6331|0.767|0.5288|0.5573|0.5694|0.4981|0.6384|0.786|gnomADe_EAS||0&1|1&1|36477530&28849102&34594039&32203549|||||||||,A|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding||||||||||rs2298214&COSV59241795|1303|1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||0.4938|0.0356|0.6268|0.7718|0.5895|0.6339|0.6136|0.1208|0.7139|0.6344|0.786|0.5555|0.595|0.5882|0.6625|0.4573|0.1137|0.5154|0.6295|0.6331|0.767|0.5288|0.5573|0.5694|0.4981|0.6384|0.786|gnomADe_EAS||0&1|1&1|36477530&28849102&34594039&32203549|||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,A|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding||||||||||rs2298214&COSV59241795|1296|1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||0.4938|0.0356|0.6268|0.7718|0.5895|0.6339|0.6136|0.1208|0.7139|0.6344|0.786|0.5555|0.595|0.5882|0.6625|0.4573|0.1137|0.5154|0.6295|0.6331|0.767|0.5288|0.5573|0.5694|0.4981|0.6384|0.786|gnomADe_EAS||0&1|1&1|36477530&28849102&34594039&32203549|||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000118|promoter||||||||||rs2298214&COSV59241795||||SNV||||||||||||||||||||0.4938|0.0356|0.6268|0.7718|0.5895|0.6339|0.6136|0.1208|0.7139|0.6344|0.786|0.5555|0.595|0.5882|0.6625|0.4573|0.1137|0.5154|0.6295|0.6331|0.767|0.5288|0.5573|0.5694|0.4981|0.6384|0.786|gnomADe_EAS||0&1|1&1|36477530&28849102&34594039&32203549||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:9,38:0.818:47:0,2:3,17:5,24:4,5,18,20 -chr1 999842 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=6%2C5|29%2C33;DP=78;ECNT=1;GERMQ=93;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=44;POPAF=7.3;TLOD=213.25;SRC=custom;GRP=custom;CSQ=A|intron_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000304952|protein_coding||1/3|ENST00000304952.11:c.108+24G>T|||||||rs2298214&COSV59241795||-1||SNV|HGNC|HGNC:24149|YES|NM_021170.4||1|P1|CCDS5.1|ENSP00000304595|Q9HCC6.164||UPI000006EC19||||||||0.4938|0.0356|0.6268|0.7718|0.5895|0.6339|0.6136|0.1208|0.7139|0.6344|0.786|0.5555|0.595|0.5882|0.6625|0.4573|0.1137|0.5154|0.6295|0.6331|0.767|0.5288|0.5573|0.5694|0.4981|0.6384|0.786|gnomADe_EAS||0&1|1&1|36477530&28849102&34594039&32203549|||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,A|missense_variant|MODERATE|HES4|ENSG00000188290|Transcript|ENST00000428771|protein_coding|1/3||ENST00000428771.6:c.132G>T|ENSP00000393198.2:p.Arg44Ser|331|132|44|R/S|agG/agT|rs2298214&COSV59241795||-1||SNV|HGNC|HGNC:24149||||2||CCDS44034.1|ENSP00000393198||E9PB28.82|UPI0001881B51|||tolerated_low_confidence(0.69)|benign(0)||||0.4938|0.0356|0.6268|0.7718|0.5895|0.6339|0.6136|0.1208|0.7139|0.6344|0.786|0.5555|0.595|0.5882|0.6625|0.4573|0.1137|0.5154|0.6295|0.6331|0.767|0.5288|0.5573|0.5694|0.4981|0.6384|0.786|gnomADe_EAS||0&1|1&1|36477530&28849102&34594039&32203549|||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKVGSRPGVRGATGGREGRGTQPVPDPQSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,A|non_coding_transcript_exon_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000481869|retained_intron|1/2||ENST00000481869.1:n.255G>T||255|||||rs2298214&COSV59241795||-1||SNV|HGNC|HGNC:24149||||2||||||||||||||0.4938|0.0356|0.6268|0.7718|0.5895|0.6339|0.6136|0.1208|0.7139|0.6344|0.786|0.5555|0.595|0.5882|0.6625|0.4573|0.1137|0.5154|0.6295|0.6331|0.767|0.5288|0.5573|0.5694|0.4981|0.6384|0.786|gnomADe_EAS||0&1|1&1|36477530&28849102&34594039&32203549|||||||||,A|intron_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000484667|protein_coding||1/2|ENST00000484667.2:c.108+24G>T|||||||rs2298214&COSV59241795||-1||SNV|HGNC|HGNC:24149||||3||CCDS90837.1|ENSP00000425085||D6REB3.81|UPI0001D3BBEE||||||||0.4938|0.0356|0.6268|0.7718|0.5895|0.6339|0.6136|0.1208|0.7139|0.6344|0.786|0.5555|0.595|0.5882|0.6625|0.4573|0.1137|0.5154|0.6295|0.6331|0.767|0.5288|0.5573|0.5694|0.4981|0.6384|0.786|gnomADe_EAS||0&1|1&1|36477530&28849102&34594039&32203549|||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,A|upstream_gene_variant|MODIFIER||ENSG00000272512|Transcript|ENST00000606034|lncRNA||||||||||rs2298214&COSV59241795|1791|-1||SNV|||YES|||||||||||||||||0.4938|0.0356|0.6268|0.7718|0.5895|0.6339|0.6136|0.1208|0.7139|0.6344|0.786|0.5555|0.595|0.5882|0.6625|0.4573|0.1137|0.5154|0.6295|0.6331|0.767|0.5288|0.5573|0.5694|0.4981|0.6384|0.786|gnomADe_EAS||0&1|1&1|36477530&28849102&34594039&32203549|||||||||,A|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding||||||||||rs2298214&COSV59241795|1303|1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||0.4938|0.0356|0.6268|0.7718|0.5895|0.6339|0.6136|0.1208|0.7139|0.6344|0.786|0.5555|0.595|0.5882|0.6625|0.4573|0.1137|0.5154|0.6295|0.6331|0.767|0.5288|0.5573|0.5694|0.4981|0.6384|0.786|gnomADe_EAS||0&1|1&1|36477530&28849102&34594039&32203549|||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,A|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding||||||||||rs2298214&COSV59241795|1296|1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||0.4938|0.0356|0.6268|0.7718|0.5895|0.6339|0.6136|0.1208|0.7139|0.6344|0.786|0.5555|0.595|0.5882|0.6625|0.4573|0.1137|0.5154|0.6295|0.6331|0.767|0.5288|0.5573|0.5694|0.4981|0.6384|0.786|gnomADe_EAS||0&1|1&1|36477530&28849102&34594039&32203549|||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000118|promoter||||||||||rs2298214&COSV59241795||||SNV||||||||||||||||||||0.4938|0.0356|0.6268|0.7718|0.5895|0.6339|0.6136|0.1208|0.7139|0.6344|0.786|0.5555|0.595|0.5882|0.6625|0.4573|0.1137|0.5154|0.6295|0.6331|0.767|0.5288|0.5573|0.5694|0.4981|0.6384|0.786|gnomADe_EAS||0&1|1&1|36477530&28849102&34594039&32203549||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:11,62:0.834:73:0,5:6,29:6,34:6,5,29,33 -chr1 1000079 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|40%2C48;DP=90;ECNT=4;GERMQ=93;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=19;POPAF=7.3;TLOD=338.09;SRC=custom;GRP=custom;CSQ=G|5_prime_UTR_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000304952|protein_coding|1/4||ENST00000304952.11:c.-106T>C||19|||||rs3128113&COSV59242288||-1||SNV|HGNC|HGNC:24149|YES|NM_021170.4||1|P1|CCDS5.1|ENSP00000304595|Q9HCC6.164||UPI000006EC19||||||||0.6771|0.323|0.7896|0.8482|0.7893|0.7843||||||||||0.6804|0.3764|0.7682|0.7929|0.7662|0.8667|0.7782|0.7166|0.7973|0.6949|0.7899|0.8667|gnomADg_EAS||0&1|0&1||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,G|5_prime_UTR_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000428771|protein_coding|1/3||ENST00000428771.6:c.-106T>C||94|||||rs3128113&COSV59242288||-1||SNV|HGNC|HGNC:24149||||2||CCDS44034.1|ENSP00000393198||E9PB28.82|UPI0001881B51||||||||0.6771|0.323|0.7896|0.8482|0.7893|0.7843||||||||||0.6804|0.3764|0.7682|0.7929|0.7662|0.8667|0.7782|0.7166|0.7973|0.6949|0.7899|0.8667|gnomADg_EAS||0&1|0&1||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKVGSRPGVRGATGGREGRGTQPVPDPQSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,G|non_coding_transcript_exon_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000481869|retained_intron|1/2||ENST00000481869.1:n.18T>C||18|||||rs3128113&COSV59242288||-1||SNV|HGNC|HGNC:24149||||2||||||||||||||0.6771|0.323|0.7896|0.8482|0.7893|0.7843||||||||||0.6804|0.3764|0.7682|0.7929|0.7662|0.8667|0.7782|0.7166|0.7973|0.6949|0.7899|0.8667|gnomADg_EAS||0&1|0&1||||||||||,G|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000484667|protein_coding||||||||||rs3128113&COSV59242288|98|-1||SNV|HGNC|HGNC:24149||||3||CCDS90837.1|ENSP00000425085||D6REB3.81|UPI0001D3BBEE||||||||0.6771|0.323|0.7896|0.8482|0.7893|0.7843||||||||||0.6804|0.3764|0.7682|0.7929|0.7662|0.8667|0.7782|0.7166|0.7973|0.6949|0.7899|0.8667|gnomADg_EAS||0&1|0&1||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,G|upstream_gene_variant|MODIFIER||ENSG00000272512|Transcript|ENST00000606034|lncRNA||||||||||rs3128113&COSV59242288|2028|-1||SNV|||YES|||||||||||||||||0.6771|0.323|0.7896|0.8482|0.7893|0.7843||||||||||0.6804|0.3764|0.7682|0.7929|0.7662|0.8667|0.7782|0.7166|0.7973|0.6949|0.7899|0.8667|gnomADg_EAS||0&1|0&1||||||||||,G|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding||||||||||rs3128113&COSV59242288|1066|1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||0.6771|0.323|0.7896|0.8482|0.7893|0.7843||||||||||0.6804|0.3764|0.7682|0.7929|0.7662|0.8667|0.7782|0.7166|0.7973|0.6949|0.7899|0.8667|gnomADg_EAS||0&1|0&1||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,G|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding||||||||||rs3128113&COSV59242288|1059|1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||0.6771|0.323|0.7896|0.8482|0.7893|0.7843||||||||||0.6804|0.3764|0.7682|0.7929|0.7662|0.8667|0.7782|0.7166|0.7973|0.6949|0.7899|0.8667|gnomADg_EAS||0&1|0&1||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000118|promoter||||||||||rs3128113&COSV59242288||||SNV||||||||||||||||||||0.6771|0.323|0.7896|0.8482|0.7893|0.7843||||||||||0.6804|0.3764|0.7682|0.7929|0.7662|0.8667|0.7782|0.7166|0.7973|0.6949|0.7899|0.8667|gnomADg_EAS||0&1|0&1|||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,88:0.981:88:0,8:0,40:0,49:0,0,40,48 -chr1 1000079 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|22%2C33;DP=58;ECNT=2;GERMQ=93;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=23;POPAF=7.3;TLOD=204.87;SRC=custom;GRP=custom;CSQ=G|5_prime_UTR_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000304952|protein_coding|1/4||ENST00000304952.11:c.-106T>C||19|||||rs3128113&COSV59242288||-1||SNV|HGNC|HGNC:24149|YES|NM_021170.4||1|P1|CCDS5.1|ENSP00000304595|Q9HCC6.164||UPI000006EC19||||||||0.6771|0.323|0.7896|0.8482|0.7893|0.7843||||||||||0.6804|0.3764|0.7682|0.7929|0.7662|0.8667|0.7782|0.7166|0.7973|0.6949|0.7899|0.8667|gnomADg_EAS||0&1|0&1||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,G|5_prime_UTR_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000428771|protein_coding|1/3||ENST00000428771.6:c.-106T>C||94|||||rs3128113&COSV59242288||-1||SNV|HGNC|HGNC:24149||||2||CCDS44034.1|ENSP00000393198||E9PB28.82|UPI0001881B51||||||||0.6771|0.323|0.7896|0.8482|0.7893|0.7843||||||||||0.6804|0.3764|0.7682|0.7929|0.7662|0.8667|0.7782|0.7166|0.7973|0.6949|0.7899|0.8667|gnomADg_EAS||0&1|0&1||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKVGSRPGVRGATGGREGRGTQPVPDPQSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,G|non_coding_transcript_exon_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000481869|retained_intron|1/2||ENST00000481869.1:n.18T>C||18|||||rs3128113&COSV59242288||-1||SNV|HGNC|HGNC:24149||||2||||||||||||||0.6771|0.323|0.7896|0.8482|0.7893|0.7843||||||||||0.6804|0.3764|0.7682|0.7929|0.7662|0.8667|0.7782|0.7166|0.7973|0.6949|0.7899|0.8667|gnomADg_EAS||0&1|0&1||||||||||,G|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000484667|protein_coding||||||||||rs3128113&COSV59242288|98|-1||SNV|HGNC|HGNC:24149||||3||CCDS90837.1|ENSP00000425085||D6REB3.81|UPI0001D3BBEE||||||||0.6771|0.323|0.7896|0.8482|0.7893|0.7843||||||||||0.6804|0.3764|0.7682|0.7929|0.7662|0.8667|0.7782|0.7166|0.7973|0.6949|0.7899|0.8667|gnomADg_EAS||0&1|0&1||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,G|upstream_gene_variant|MODIFIER||ENSG00000272512|Transcript|ENST00000606034|lncRNA||||||||||rs3128113&COSV59242288|2028|-1||SNV|||YES|||||||||||||||||0.6771|0.323|0.7896|0.8482|0.7893|0.7843||||||||||0.6804|0.3764|0.7682|0.7929|0.7662|0.8667|0.7782|0.7166|0.7973|0.6949|0.7899|0.8667|gnomADg_EAS||0&1|0&1||||||||||,G|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding||||||||||rs3128113&COSV59242288|1066|1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||0.6771|0.323|0.7896|0.8482|0.7893|0.7843||||||||||0.6804|0.3764|0.7682|0.7929|0.7662|0.8667|0.7782|0.7166|0.7973|0.6949|0.7899|0.8667|gnomADg_EAS||0&1|0&1||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,G|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding||||||||||rs3128113&COSV59242288|1059|1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||0.6771|0.323|0.7896|0.8482|0.7893|0.7843||||||||||0.6804|0.3764|0.7682|0.7929|0.7662|0.8667|0.7782|0.7166|0.7973|0.6949|0.7899|0.8667|gnomADg_EAS||0&1|0&1||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000118|promoter||||||||||rs3128113&COSV59242288||||SNV||||||||||||||||||||0.6771|0.323|0.7896|0.8482|0.7893|0.7843||||||||||0.6804|0.3764|0.7682|0.7929|0.7662|0.8667|0.7782|0.7166|0.7973|0.6949|0.7899|0.8667|gnomADg_EAS||0&1|0&1|||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,55:0.972:55:0,8:0,21:0,33:0,0,22,33 -chr1 1000112 . G T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|9%2C10;DP=29;ECNT=4;GERMQ=93;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=42;POPAF=7.3;TLOD=64.39;SRC=custom;GRP=custom;CSQ=T|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000304952|protein_coding||||||||||rs3121571|15|-1||SNV|HGNC|HGNC:24149|YES|NM_021170.4||1|P1|CCDS5.1|ENSP00000304595|Q9HCC6.164||UPI000006EC19||||||||0.6771|0.323|0.7896|0.8482|0.7893|0.7843||||||||||0.68|0.3749|0.7704|0.793|0.7665|0.8662|0.7787|0.7166|0.7972|0.6939|0.79|0.8662|gnomADg_EAS|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,T|5_prime_UTR_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000428771|protein_coding|1/3||ENST00000428771.6:c.-139C>A||61|||||rs3121571||-1||SNV|HGNC|HGNC:24149||||2||CCDS44034.1|ENSP00000393198||E9PB28.82|UPI0001881B51||||||||0.6771|0.323|0.7896|0.8482|0.7893|0.7843||||||||||0.68|0.3749|0.7704|0.793|0.7665|0.8662|0.7787|0.7166|0.7972|0.6939|0.79|0.8662|gnomADg_EAS|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKVGSRPGVRGATGGREGRGTQPVPDPQSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,T|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000481869|retained_intron||||||||||rs3121571|16|-1||SNV|HGNC|HGNC:24149||||2||||||||||||||0.6771|0.323|0.7896|0.8482|0.7893|0.7843||||||||||0.68|0.3749|0.7704|0.793|0.7665|0.8662|0.7787|0.7166|0.7972|0.6939|0.79|0.8662|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000484667|protein_coding||||||||||rs3121571|131|-1||SNV|HGNC|HGNC:24149||||3||CCDS90837.1|ENSP00000425085||D6REB3.81|UPI0001D3BBEE||||||||0.6771|0.323|0.7896|0.8482|0.7893|0.7843||||||||||0.68|0.3749|0.7704|0.793|0.7665|0.8662|0.7787|0.7166|0.7972|0.6939|0.79|0.8662|gnomADg_EAS|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,T|upstream_gene_variant|MODIFIER||ENSG00000272512|Transcript|ENST00000606034|lncRNA||||||||||rs3121571|2061|-1||SNV|||YES|||||||||||||||||0.6771|0.323|0.7896|0.8482|0.7893|0.7843||||||||||0.68|0.3749|0.7704|0.793|0.7665|0.8662|0.7787|0.7166|0.7972|0.6939|0.79|0.8662|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding||||||||||rs3121571|1033|1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||0.6771|0.323|0.7896|0.8482|0.7893|0.7843||||||||||0.68|0.3749|0.7704|0.793|0.7665|0.8662|0.7787|0.7166|0.7972|0.6939|0.79|0.8662|gnomADg_EAS|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,T|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding||||||||||rs3121571|1026|1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||0.6771|0.323|0.7896|0.8482|0.7893|0.7843||||||||||0.68|0.3749|0.7704|0.793|0.7665|0.8662|0.7787|0.7166|0.7972|0.6939|0.79|0.8662|gnomADg_EAS|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000118|promoter||||||||||rs3121571||||SNV||||||||||||||||||||0.6771|0.323|0.7896|0.8482|0.7893|0.7843||||||||||0.68|0.3749|0.7704|0.793|0.7665|0.8662|0.7787|0.7166|0.7972|0.6939|0.79|0.8662|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,19:0.929:19:0,0:0,8:0,10:0,0,9,10 -chr1 1000112 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|6%2C8;DP=19;ECNT=2;GERMQ=82;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=21;POPAF=7.3;TLOD=49.21;SRC=custom;GRP=custom;CSQ=T|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000304952|protein_coding||||||||||rs3121571|15|-1||SNV|HGNC|HGNC:24149|YES|NM_021170.4||1|P1|CCDS5.1|ENSP00000304595|Q9HCC6.164||UPI000006EC19||||||||0.6771|0.323|0.7896|0.8482|0.7893|0.7843||||||||||0.68|0.3749|0.7704|0.793|0.7665|0.8662|0.7787|0.7166|0.7972|0.6939|0.79|0.8662|gnomADg_EAS|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,T|5_prime_UTR_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000428771|protein_coding|1/3||ENST00000428771.6:c.-139C>A||61|||||rs3121571||-1||SNV|HGNC|HGNC:24149||||2||CCDS44034.1|ENSP00000393198||E9PB28.82|UPI0001881B51||||||||0.6771|0.323|0.7896|0.8482|0.7893|0.7843||||||||||0.68|0.3749|0.7704|0.793|0.7665|0.8662|0.7787|0.7166|0.7972|0.6939|0.79|0.8662|gnomADg_EAS|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKVGSRPGVRGATGGREGRGTQPVPDPQSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,T|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000481869|retained_intron||||||||||rs3121571|16|-1||SNV|HGNC|HGNC:24149||||2||||||||||||||0.6771|0.323|0.7896|0.8482|0.7893|0.7843||||||||||0.68|0.3749|0.7704|0.793|0.7665|0.8662|0.7787|0.7166|0.7972|0.6939|0.79|0.8662|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000484667|protein_coding||||||||||rs3121571|131|-1||SNV|HGNC|HGNC:24149||||3||CCDS90837.1|ENSP00000425085||D6REB3.81|UPI0001D3BBEE||||||||0.6771|0.323|0.7896|0.8482|0.7893|0.7843||||||||||0.68|0.3749|0.7704|0.793|0.7665|0.8662|0.7787|0.7166|0.7972|0.6939|0.79|0.8662|gnomADg_EAS|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,T|upstream_gene_variant|MODIFIER||ENSG00000272512|Transcript|ENST00000606034|lncRNA||||||||||rs3121571|2061|-1||SNV|||YES|||||||||||||||||0.6771|0.323|0.7896|0.8482|0.7893|0.7843||||||||||0.68|0.3749|0.7704|0.793|0.7665|0.8662|0.7787|0.7166|0.7972|0.6939|0.79|0.8662|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding||||||||||rs3121571|1033|1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||0.6771|0.323|0.7896|0.8482|0.7893|0.7843||||||||||0.68|0.3749|0.7704|0.793|0.7665|0.8662|0.7787|0.7166|0.7972|0.6939|0.79|0.8662|gnomADg_EAS|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,T|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding||||||||||rs3121571|1026|1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||0.6771|0.323|0.7896|0.8482|0.7893|0.7843||||||||||0.68|0.3749|0.7704|0.793|0.7665|0.8662|0.7787|0.7166|0.7972|0.6939|0.79|0.8662|gnomADg_EAS|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000118|promoter||||||||||rs3121571||||SNV||||||||||||||||||||0.6771|0.323|0.7896|0.8482|0.7893|0.7843||||||||||0.68|0.3749|0.7704|0.793|0.7665|0.8662|0.7787|0.7166|0.7972|0.6939|0.79|0.8662|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,14:0.92:14:0,1:0,6:0,9:0,0,6,8 -chr1 1000134 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=8%2C8|1%2C1;DP=18;ECNT=4;GERMQ=62;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=112;POPAF=7.3;TLOD=5.51;SRC=custom;GRP=custom;CSQ=T|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000304952|protein_coding||||||||||rs1018961738|37|-1||SNV|HGNC|HGNC:24149|YES|NM_021170.4||1|P1|CCDS5.1|ENSP00000304595|Q9HCC6.164||UPI000006EC19|||||||||||||||||||||||6.583e-06|2.415e-05|0|0|0|0|0|0|0|0|0|2.415e-05|gnomADg_AFR|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,T|5_prime_UTR_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000428771|protein_coding|1/3||ENST00000428771.6:c.-161G>A||39|||||rs1018961738||-1||SNV|HGNC|HGNC:24149||||2||CCDS44034.1|ENSP00000393198||E9PB28.82|UPI0001881B51|||||||||||||||||||||||6.583e-06|2.415e-05|0|0|0|0|0|0|0|0|0|2.415e-05|gnomADg_AFR|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKVGSRPGVRGATGGREGRGTQPVPDPQSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,T|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000481869|retained_intron||||||||||rs1018961738|38|-1||SNV|HGNC|HGNC:24149||||2|||||||||||||||||||||||||||||6.583e-06|2.415e-05|0|0|0|0|0|0|0|0|0|2.415e-05|gnomADg_AFR|||||||||||||,T|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000484667|protein_coding||||||||||rs1018961738|153|-1||SNV|HGNC|HGNC:24149||||3||CCDS90837.1|ENSP00000425085||D6REB3.81|UPI0001D3BBEE|||||||||||||||||||||||6.583e-06|2.415e-05|0|0|0|0|0|0|0|0|0|2.415e-05|gnomADg_AFR|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,T|upstream_gene_variant|MODIFIER||ENSG00000272512|Transcript|ENST00000606034|lncRNA||||||||||rs1018961738|2083|-1||SNV|||YES||||||||||||||||||||||||||||||||6.583e-06|2.415e-05|0|0|0|0|0|0|0|0|0|2.415e-05|gnomADg_AFR|||||||||||||,T|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding||||||||||rs1018961738|1011|1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1|||||||||||||||||||||6.583e-06|2.415e-05|0|0|0|0|0|0|0|0|0|2.415e-05|gnomADg_AFR|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,T|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding||||||||||rs1018961738|1004|1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1|||||||||||||||||||||6.583e-06|2.415e-05|0|0|0|0|0|0|0|0|0|2.415e-05|gnomADg_AFR|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000118|promoter||||||||||rs1018961738||||SNV|||||||||||||||||||||||||||||||||||6.583e-06|2.415e-05|0|0|0|0|0|0|0|0|0|2.415e-05|gnomADg_AFR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:16,2:0.167:18:0,0:8,1:9,1:8,8,1,1 -chr1 1000207 . C G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=14%2C11|1%2C1;DP=29;ECNT=4;GERMQ=83;MBQ=33,29;MFRL=0,0;MMQ=60,60;MPOS=73;POPAF=7.3;TLOD=4.36;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000304952|protein_coding|||||||||||110|-1||SNV|HGNC|HGNC:24149|YES|NM_021170.4||1|P1|CCDS5.1|ENSP00000304595|Q9HCC6.164||UPI000006EC19||||||||||||||||||||||||||||||||||||||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,G|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000428771|protein_coding|||||||||||35|-1||SNV|HGNC|HGNC:24149||||2||CCDS44034.1|ENSP00000393198||E9PB28.82|UPI0001881B51||||||||||||||||||||||||||||||||||||||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKVGSRPGVRGATGGREGRGTQPVPDPQSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,G|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000481869|retained_intron|||||||||||111|-1||SNV|HGNC|HGNC:24149||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000484667|protein_coding|||||||||||226|-1||SNV|HGNC|HGNC:24149||||3||CCDS90837.1|ENSP00000425085||D6REB3.81|UPI0001D3BBEE||||||||||||||||||||||||||||||||||||||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,G|upstream_gene_variant|MODIFIER||ENSG00000272512|Transcript|ENST00000606034|lncRNA|||||||||||2156|-1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding|||||||||||938|1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||||||||||||||||||||||||||||||||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,G|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding|||||||||||931|1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||||||||||||||||||||||||||||||||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000118|promoter||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:25,2:0.116:27:0,0:14,1:14,1:14,11,1,1 -chr1 1000335 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=7%2C7|8%2C6;DP=29;ECNT=1;GERMQ=34;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=31;POPAF=7.3;TLOD=45.17;SRC=custom;GRP=custom;CSQ=T|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000304952|protein_coding||||||||||rs3128114|238|-1||SNV|HGNC|HGNC:24149|YES|NM_021170.4||1|P1|CCDS5.1|ENSP00000304595|Q9HCC6.164||UPI000006EC19||||||||0.1322|0.1029|0.1527|0.0764|0.1948|0.1503||||||||||0.1771|0.107|0.2538|0.1421|0.1305|0.09907|0.2481|0.1497|0.2263|0.1638|0.15|0.2538|gnomADg_AMI|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,T|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000428771|protein_coding||||||||||rs3128114|163|-1||SNV|HGNC|HGNC:24149||||2||CCDS44034.1|ENSP00000393198||E9PB28.82|UPI0001881B51||||||||0.1322|0.1029|0.1527|0.0764|0.1948|0.1503||||||||||0.1771|0.107|0.2538|0.1421|0.1305|0.09907|0.2481|0.1497|0.2263|0.1638|0.15|0.2538|gnomADg_AMI|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKVGSRPGVRGATGGREGRGTQPVPDPQSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,T|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000481869|retained_intron||||||||||rs3128114|239|-1||SNV|HGNC|HGNC:24149||||2||||||||||||||0.1322|0.1029|0.1527|0.0764|0.1948|0.1503||||||||||0.1771|0.107|0.2538|0.1421|0.1305|0.09907|0.2481|0.1497|0.2263|0.1638|0.15|0.2538|gnomADg_AMI|||||||||||||,T|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000484667|protein_coding||||||||||rs3128114|354|-1||SNV|HGNC|HGNC:24149||||3||CCDS90837.1|ENSP00000425085||D6REB3.81|UPI0001D3BBEE||||||||0.1322|0.1029|0.1527|0.0764|0.1948|0.1503||||||||||0.1771|0.107|0.2538|0.1421|0.1305|0.09907|0.2481|0.1497|0.2263|0.1638|0.15|0.2538|gnomADg_AMI|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,T|upstream_gene_variant|MODIFIER||ENSG00000272512|Transcript|ENST00000606034|lncRNA||||||||||rs3128114|2284|-1||SNV|||YES|||||||||||||||||0.1322|0.1029|0.1527|0.0764|0.1948|0.1503||||||||||0.1771|0.107|0.2538|0.1421|0.1305|0.09907|0.2481|0.1497|0.2263|0.1638|0.15|0.2538|gnomADg_AMI|||||||||||||,T|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding||||||||||rs3128114|810|1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||0.1322|0.1029|0.1527|0.0764|0.1948|0.1503||||||||||0.1771|0.107|0.2538|0.1421|0.1305|0.09907|0.2481|0.1497|0.2263|0.1638|0.15|0.2538|gnomADg_AMI|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,T|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding||||||||||rs3128114|803|1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||0.1322|0.1029|0.1527|0.0764|0.1948|0.1503||||||||||0.1771|0.107|0.2538|0.1421|0.1305|0.09907|0.2481|0.1497|0.2263|0.1638|0.15|0.2538|gnomADg_AMI|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000118|promoter||||||||||rs3128114||||SNV||||||||||||||||||||0.1322|0.1029|0.1527|0.0764|0.1948|0.1503||||||||||0.1771|0.107|0.2538|0.1421|0.1305|0.09907|0.2481|0.1497|0.2263|0.1638|0.15|0.2538|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:14,14:0.5:28:2,1:7,8:9,9:7,7,8,6 -chr1 1000335 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=6%2C5|8%2C11;DP=30;ECNT=2;GERMQ=37;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=60;POPAF=7.3;TLOD=64;SRC=custom;GRP=custom;CSQ=T|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000304952|protein_coding||||||||||rs3128114|238|-1||SNV|HGNC|HGNC:24149|YES|NM_021170.4||1|P1|CCDS5.1|ENSP00000304595|Q9HCC6.164||UPI000006EC19||||||||0.1322|0.1029|0.1527|0.0764|0.1948|0.1503||||||||||0.1771|0.107|0.2538|0.1421|0.1305|0.09907|0.2481|0.1497|0.2263|0.1638|0.15|0.2538|gnomADg_AMI|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,T|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000428771|protein_coding||||||||||rs3128114|163|-1||SNV|HGNC|HGNC:24149||||2||CCDS44034.1|ENSP00000393198||E9PB28.82|UPI0001881B51||||||||0.1322|0.1029|0.1527|0.0764|0.1948|0.1503||||||||||0.1771|0.107|0.2538|0.1421|0.1305|0.09907|0.2481|0.1497|0.2263|0.1638|0.15|0.2538|gnomADg_AMI|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKVGSRPGVRGATGGREGRGTQPVPDPQSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,T|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000481869|retained_intron||||||||||rs3128114|239|-1||SNV|HGNC|HGNC:24149||||2||||||||||||||0.1322|0.1029|0.1527|0.0764|0.1948|0.1503||||||||||0.1771|0.107|0.2538|0.1421|0.1305|0.09907|0.2481|0.1497|0.2263|0.1638|0.15|0.2538|gnomADg_AMI|||||||||||||,T|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000484667|protein_coding||||||||||rs3128114|354|-1||SNV|HGNC|HGNC:24149||||3||CCDS90837.1|ENSP00000425085||D6REB3.81|UPI0001D3BBEE||||||||0.1322|0.1029|0.1527|0.0764|0.1948|0.1503||||||||||0.1771|0.107|0.2538|0.1421|0.1305|0.09907|0.2481|0.1497|0.2263|0.1638|0.15|0.2538|gnomADg_AMI|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,T|upstream_gene_variant|MODIFIER||ENSG00000272512|Transcript|ENST00000606034|lncRNA||||||||||rs3128114|2284|-1||SNV|||YES|||||||||||||||||0.1322|0.1029|0.1527|0.0764|0.1948|0.1503||||||||||0.1771|0.107|0.2538|0.1421|0.1305|0.09907|0.2481|0.1497|0.2263|0.1638|0.15|0.2538|gnomADg_AMI|||||||||||||,T|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding||||||||||rs3128114|810|1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||0.1322|0.1029|0.1527|0.0764|0.1948|0.1503||||||||||0.1771|0.107|0.2538|0.1421|0.1305|0.09907|0.2481|0.1497|0.2263|0.1638|0.15|0.2538|gnomADg_AMI|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,T|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding||||||||||rs3128114|803|1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||0.1322|0.1029|0.1527|0.0764|0.1948|0.1503||||||||||0.1771|0.107|0.2538|0.1421|0.1305|0.09907|0.2481|0.1497|0.2263|0.1638|0.15|0.2538|gnomADg_AMI|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000118|promoter||||||||||rs3128114||||SNV||||||||||||||||||||0.1322|0.1029|0.1527|0.0764|0.1948|0.1503||||||||||0.1771|0.107|0.2538|0.1421|0.1305|0.09907|0.2481|0.1497|0.2263|0.1638|0.15|0.2538|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:11,19:0.6:30:1,3:6,7:7,11:0|1:1000335_C_T:1000335:6,5,8,11 -chr1 1000346 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=13%2C14|1%2C1;DP=31;ECNT=2;GERMQ=88;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=9;POPAF=7.3;TLOD=4.91;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000304952|protein_coding||||||||||rs1313678908|249|-1||SNV|HGNC|HGNC:24149|YES|NM_021170.4||1|P1|CCDS5.1|ENSP00000304595|Q9HCC6.164||UPI000006EC19||||||||||||||||||||||||||||||||||||||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,A|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000428771|protein_coding||||||||||rs1313678908|174|-1||SNV|HGNC|HGNC:24149||||2||CCDS44034.1|ENSP00000393198||E9PB28.82|UPI0001881B51||||||||||||||||||||||||||||||||||||||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKVGSRPGVRGATGGREGRGTQPVPDPQSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,A|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000481869|retained_intron||||||||||rs1313678908|250|-1||SNV|HGNC|HGNC:24149||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000484667|protein_coding||||||||||rs1313678908|365|-1||SNV|HGNC|HGNC:24149||||3||CCDS90837.1|ENSP00000425085||D6REB3.81|UPI0001D3BBEE||||||||||||||||||||||||||||||||||||||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,A|upstream_gene_variant|MODIFIER||ENSG00000272512|Transcript|ENST00000606034|lncRNA||||||||||rs1313678908|2295|-1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding||||||||||rs1313678908|799|1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||||||||||||||||||||||||||||||||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,A|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding||||||||||rs1313678908|792|1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||||||||||||||||||||||||||||||||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000118|promoter||||||||||rs1313678908||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:27,2:0.099:29:3,0:13,1:17,1:0|1:1000335_C_T:1000335:13,14,1,1 -chr1 1000453 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|19%2C14;DP=37;ECNT=1;GERMQ=93;MBQ=22,32;MFRL=0,0;MMQ=60,60;MPOS=72;POPAF=7.3;TLOD=117.94;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000304952|protein_coding||||||||||rs3128115|356|-1||SNV|HGNC|HGNC:24149|YES|NM_021170.4||1|P1|CCDS5.1|ENSP00000304595|Q9HCC6.164||UPI000006EC19||||||||0.6771|0.3238|0.7896|0.8482|0.7893|0.7832||||||||||0.6804|0.3764|0.7692|0.7935|0.7588|0.8667|0.7781|0.7212|0.7973|0.6936|0.7904|0.8667|gnomADg_EAS|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,G|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000428771|protein_coding||||||||||rs3128115|281|-1||SNV|HGNC|HGNC:24149||||2||CCDS44034.1|ENSP00000393198||E9PB28.82|UPI0001881B51||||||||0.6771|0.3238|0.7896|0.8482|0.7893|0.7832||||||||||0.6804|0.3764|0.7692|0.7935|0.7588|0.8667|0.7781|0.7212|0.7973|0.6936|0.7904|0.8667|gnomADg_EAS|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKVGSRPGVRGATGGREGRGTQPVPDPQSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,G|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000481869|retained_intron||||||||||rs3128115|357|-1||SNV|HGNC|HGNC:24149||||2||||||||||||||0.6771|0.3238|0.7896|0.8482|0.7893|0.7832||||||||||0.6804|0.3764|0.7692|0.7935|0.7588|0.8667|0.7781|0.7212|0.7973|0.6936|0.7904|0.8667|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000484667|protein_coding||||||||||rs3128115|472|-1||SNV|HGNC|HGNC:24149||||3||CCDS90837.1|ENSP00000425085||D6REB3.81|UPI0001D3BBEE||||||||0.6771|0.3238|0.7896|0.8482|0.7893|0.7832||||||||||0.6804|0.3764|0.7692|0.7935|0.7588|0.8667|0.7781|0.7212|0.7973|0.6936|0.7904|0.8667|gnomADg_EAS|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,G|upstream_gene_variant|MODIFIER||ENSG00000272512|Transcript|ENST00000606034|lncRNA||||||||||rs3128115|2402|-1||SNV|||YES|||||||||||||||||0.6771|0.3238|0.7896|0.8482|0.7893|0.7832||||||||||0.6804|0.3764|0.7692|0.7935|0.7588|0.8667|0.7781|0.7212|0.7973|0.6936|0.7904|0.8667|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding||||||||||rs3128115|692|1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||0.6771|0.3238|0.7896|0.8482|0.7893|0.7832||||||||||0.6804|0.3764|0.7692|0.7935|0.7588|0.8667|0.7781|0.7212|0.7973|0.6936|0.7904|0.8667|gnomADg_EAS|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,G|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding||||||||||rs3128115|685|1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||0.6771|0.3238|0.7896|0.8482|0.7893|0.7832||||||||||0.6804|0.3764|0.7692|0.7935|0.7588|0.8667|0.7781|0.7212|0.7973|0.6936|0.7904|0.8667|gnomADg_EAS|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000118|promoter||||||||||rs3128115||||SNV||||||||||||||||||||0.6771|0.3238|0.7896|0.8482|0.7893|0.7832||||||||||0.6804|0.3764|0.7692|0.7935|0.7588|0.8667|0.7781|0.7212|0.7973|0.6936|0.7904|0.8667|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,33:0.918:35:0,2:1,19:1,21:1,1,19,14 -chr1 1000453 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|19%2C19;DP=39;ECNT=2;GERMQ=93;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=70;POPAF=7.3;TLOD=141.22;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000304952|protein_coding||||||||||rs3128115|356|-1||SNV|HGNC|HGNC:24149|YES|NM_021170.4||1|P1|CCDS5.1|ENSP00000304595|Q9HCC6.164||UPI000006EC19||||||||0.6771|0.3238|0.7896|0.8482|0.7893|0.7832||||||||||0.6804|0.3764|0.7692|0.7935|0.7588|0.8667|0.7781|0.7212|0.7973|0.6936|0.7904|0.8667|gnomADg_EAS|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,G|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000428771|protein_coding||||||||||rs3128115|281|-1||SNV|HGNC|HGNC:24149||||2||CCDS44034.1|ENSP00000393198||E9PB28.82|UPI0001881B51||||||||0.6771|0.3238|0.7896|0.8482|0.7893|0.7832||||||||||0.6804|0.3764|0.7692|0.7935|0.7588|0.8667|0.7781|0.7212|0.7973|0.6936|0.7904|0.8667|gnomADg_EAS|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKVGSRPGVRGATGGREGRGTQPVPDPQSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,G|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000481869|retained_intron||||||||||rs3128115|357|-1||SNV|HGNC|HGNC:24149||||2||||||||||||||0.6771|0.3238|0.7896|0.8482|0.7893|0.7832||||||||||0.6804|0.3764|0.7692|0.7935|0.7588|0.8667|0.7781|0.7212|0.7973|0.6936|0.7904|0.8667|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000484667|protein_coding||||||||||rs3128115|472|-1||SNV|HGNC|HGNC:24149||||3||CCDS90837.1|ENSP00000425085||D6REB3.81|UPI0001D3BBEE||||||||0.6771|0.3238|0.7896|0.8482|0.7893|0.7832||||||||||0.6804|0.3764|0.7692|0.7935|0.7588|0.8667|0.7781|0.7212|0.7973|0.6936|0.7904|0.8667|gnomADg_EAS|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,G|upstream_gene_variant|MODIFIER||ENSG00000272512|Transcript|ENST00000606034|lncRNA||||||||||rs3128115|2402|-1||SNV|||YES|||||||||||||||||0.6771|0.3238|0.7896|0.8482|0.7893|0.7832||||||||||0.6804|0.3764|0.7692|0.7935|0.7588|0.8667|0.7781|0.7212|0.7973|0.6936|0.7904|0.8667|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding||||||||||rs3128115|692|1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||0.6771|0.3238|0.7896|0.8482|0.7893|0.7832||||||||||0.6804|0.3764|0.7692|0.7935|0.7588|0.8667|0.7781|0.7212|0.7973|0.6936|0.7904|0.8667|gnomADg_EAS|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,G|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding||||||||||rs3128115|685|1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||0.6771|0.3238|0.7896|0.8482|0.7893|0.7832||||||||||0.6804|0.3764|0.7692|0.7935|0.7588|0.8667|0.7781|0.7212|0.7973|0.6936|0.7904|0.8667|gnomADg_EAS|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000118|promoter||||||||||rs3128115||||SNV||||||||||||||||||||0.6771|0.3238|0.7896|0.8482|0.7893|0.7832||||||||||0.6804|0.3764|0.7692|0.7935|0.7588|0.8667|0.7781|0.7212|0.7973|0.6936|0.7904|0.8667|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,38:0.96:38:0,4:0,19:0,23:0|1:1000453_C_G:1000453:0,0,19,19 -chr1 1000469 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=19%2C20|1%2C1;DP=43;ECNT=2;GERMQ=93;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=55;POPAF=7.3;TLOD=4.73;SRC=custom;GRP=custom;CSQ=C|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000304952|protein_coding|||||||||||372|-1||SNV|HGNC|HGNC:24149|YES|NM_021170.4||1|P1|CCDS5.1|ENSP00000304595|Q9HCC6.164||UPI000006EC19||||||||||||||||||||||||||||||||||||||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,C|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000428771|protein_coding|||||||||||297|-1||SNV|HGNC|HGNC:24149||||2||CCDS44034.1|ENSP00000393198||E9PB28.82|UPI0001881B51||||||||||||||||||||||||||||||||||||||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKVGSRPGVRGATGGREGRGTQPVPDPQSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,C|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000481869|retained_intron|||||||||||373|-1||SNV|HGNC|HGNC:24149||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000484667|protein_coding|||||||||||488|-1||SNV|HGNC|HGNC:24149||||3||CCDS90837.1|ENSP00000425085||D6REB3.81|UPI0001D3BBEE||||||||||||||||||||||||||||||||||||||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,C|upstream_gene_variant|MODIFIER||ENSG00000272512|Transcript|ENST00000606034|lncRNA|||||||||||2418|-1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding|||||||||||676|1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||||||||||||||||||||||||||||||||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,C|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding|||||||||||669|1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||||||||||||||||||||||||||||||||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000118|promoter||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:39,2:0.073:41:3,0:19,1:24,1:0|1:1000453_C_G:1000453:19,20,1,1 -chr1 1000731 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=10%2C14|13%2C14;DP=51;ECNT=3;GERMQ=32;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=86;POPAF=7.3;TLOD=86.76;SRC=custom;GRP=custom;CSQ=T|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000304952|protein_coding||||||||||rs1936360|634|-1||SNV|HGNC|HGNC:24149|YES|NM_021170.4||1|P1|CCDS5.1|ENSP00000304595|Q9HCC6.164||UPI000006EC19||||||||0.5407|0.2095|0.634|0.7718|0.5905|0.6329||||||||||0.4957|0.256|0.5155|0.6427|0.6272|0.7654|0.5268|0.5637|0.5651|0.5244|0.6382|0.7718|EAS|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,T|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000428771|protein_coding||||||||||rs1936360|559|-1||SNV|HGNC|HGNC:24149||||2||CCDS44034.1|ENSP00000393198||E9PB28.82|UPI0001881B51||||||||0.5407|0.2095|0.634|0.7718|0.5905|0.6329||||||||||0.4957|0.256|0.5155|0.6427|0.6272|0.7654|0.5268|0.5637|0.5651|0.5244|0.6382|0.7718|EAS|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKVGSRPGVRGATGGREGRGTQPVPDPQSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,T|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000481869|retained_intron||||||||||rs1936360|635|-1||SNV|HGNC|HGNC:24149||||2||||||||||||||0.5407|0.2095|0.634|0.7718|0.5905|0.6329||||||||||0.4957|0.256|0.5155|0.6427|0.6272|0.7654|0.5268|0.5637|0.5651|0.5244|0.6382|0.7718|EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000484667|protein_coding||||||||||rs1936360|750|-1||SNV|HGNC|HGNC:24149||||3||CCDS90837.1|ENSP00000425085||D6REB3.81|UPI0001D3BBEE||||||||0.5407|0.2095|0.634|0.7718|0.5905|0.6329||||||||||0.4957|0.256|0.5155|0.6427|0.6272|0.7654|0.5268|0.5637|0.5651|0.5244|0.6382|0.7718|EAS|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,T|upstream_gene_variant|MODIFIER||ENSG00000272512|Transcript|ENST00000606034|lncRNA||||||||||rs1936360|2680|-1||SNV|||YES|||||||||||||||||0.5407|0.2095|0.634|0.7718|0.5905|0.6329||||||||||0.4957|0.256|0.5155|0.6427|0.6272|0.7654|0.5268|0.5637|0.5651|0.5244|0.6382|0.7718|EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding||||||||||rs1936360|414|1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||0.5407|0.2095|0.634|0.7718|0.5905|0.6329||||||||||0.4957|0.256|0.5155|0.6427|0.6272|0.7654|0.5268|0.5637|0.5651|0.5244|0.6382|0.7718|EAS|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,T|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding||||||||||rs1936360|407|1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||0.5407|0.2095|0.634|0.7718|0.5905|0.6329||||||||||0.4957|0.256|0.5155|0.6427|0.6272|0.7654|0.5268|0.5637|0.5651|0.5244|0.6382|0.7718|EAS|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000118|promoter||||||||||rs1936360||||SNV||||||||||||||||||||0.5407|0.2095|0.634|0.7718|0.5905|0.6329||||||||||0.4957|0.256|0.5155|0.6427|0.6272|0.7654|0.5268|0.5637|0.5651|0.5244|0.6382|0.7718|EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:24,27:0.5:51:4,1:10,12:14,14:10,14,13,14 -chr1 1000731 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=5%2C5|8%2C12;DP=30;ECNT=3;GERMQ=39;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=71;POPAF=7.3;TLOD=67.27;SRC=custom;GRP=custom;CSQ=T|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000304952|protein_coding||||||||||rs1936360|634|-1||SNV|HGNC|HGNC:24149|YES|NM_021170.4||1|P1|CCDS5.1|ENSP00000304595|Q9HCC6.164||UPI000006EC19||||||||0.5407|0.2095|0.634|0.7718|0.5905|0.6329||||||||||0.4957|0.256|0.5155|0.6427|0.6272|0.7654|0.5268|0.5637|0.5651|0.5244|0.6382|0.7718|EAS|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,T|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000428771|protein_coding||||||||||rs1936360|559|-1||SNV|HGNC|HGNC:24149||||2||CCDS44034.1|ENSP00000393198||E9PB28.82|UPI0001881B51||||||||0.5407|0.2095|0.634|0.7718|0.5905|0.6329||||||||||0.4957|0.256|0.5155|0.6427|0.6272|0.7654|0.5268|0.5637|0.5651|0.5244|0.6382|0.7718|EAS|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKVGSRPGVRGATGGREGRGTQPVPDPQSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,T|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000481869|retained_intron||||||||||rs1936360|635|-1||SNV|HGNC|HGNC:24149||||2||||||||||||||0.5407|0.2095|0.634|0.7718|0.5905|0.6329||||||||||0.4957|0.256|0.5155|0.6427|0.6272|0.7654|0.5268|0.5637|0.5651|0.5244|0.6382|0.7718|EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000484667|protein_coding||||||||||rs1936360|750|-1||SNV|HGNC|HGNC:24149||||3||CCDS90837.1|ENSP00000425085||D6REB3.81|UPI0001D3BBEE||||||||0.5407|0.2095|0.634|0.7718|0.5905|0.6329||||||||||0.4957|0.256|0.5155|0.6427|0.6272|0.7654|0.5268|0.5637|0.5651|0.5244|0.6382|0.7718|EAS|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,T|upstream_gene_variant|MODIFIER||ENSG00000272512|Transcript|ENST00000606034|lncRNA||||||||||rs1936360|2680|-1||SNV|||YES|||||||||||||||||0.5407|0.2095|0.634|0.7718|0.5905|0.6329||||||||||0.4957|0.256|0.5155|0.6427|0.6272|0.7654|0.5268|0.5637|0.5651|0.5244|0.6382|0.7718|EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding||||||||||rs1936360|414|1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||0.5407|0.2095|0.634|0.7718|0.5905|0.6329||||||||||0.4957|0.256|0.5155|0.6427|0.6272|0.7654|0.5268|0.5637|0.5651|0.5244|0.6382|0.7718|EAS|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,T|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding||||||||||rs1936360|407|1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||0.5407|0.2095|0.634|0.7718|0.5905|0.6329||||||||||0.4957|0.256|0.5155|0.6427|0.6272|0.7654|0.5268|0.5637|0.5651|0.5244|0.6382|0.7718|EAS|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000118|promoter||||||||||rs1936360||||SNV||||||||||||||||||||0.5407|0.2095|0.634|0.7718|0.5905|0.6329||||||||||0.4957|0.256|0.5155|0.6427|0.6272|0.7654|0.5268|0.5637|0.5651|0.5244|0.6382|0.7718|EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:10,20:0.65:30:0,3:5,8:6,12:5,5,8,12 -chr1 1000814 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|14%2C20;DP=34;ECNT=3;GERMQ=93;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=11;POPAF=7.3;TLOD=127.94;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000304952|protein_coding||||||||||rs3121570|717|-1||SNV|HGNC|HGNC:24149|YES|NM_021170.4||1|P1|CCDS5.1|ENSP00000304595|Q9HCC6.164||UPI000006EC19||||||||0.6883|0.3555|0.7925|0.8591|0.7903|0.7832||||||||||0.6922|0.4098|0.767|0.7977|0.7656|0.8794|0.7975|0.7166|0.7979|0.7022|0.7901|0.8794|gnomADg_EAS|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,G|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000428771|protein_coding||||||||||rs3121570|642|-1||SNV|HGNC|HGNC:24149||||2||CCDS44034.1|ENSP00000393198||E9PB28.82|UPI0001881B51||||||||0.6883|0.3555|0.7925|0.8591|0.7903|0.7832||||||||||0.6922|0.4098|0.767|0.7977|0.7656|0.8794|0.7975|0.7166|0.7979|0.7022|0.7901|0.8794|gnomADg_EAS|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKVGSRPGVRGATGGREGRGTQPVPDPQSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,G|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000481869|retained_intron||||||||||rs3121570|718|-1||SNV|HGNC|HGNC:24149||||2||||||||||||||0.6883|0.3555|0.7925|0.8591|0.7903|0.7832||||||||||0.6922|0.4098|0.767|0.7977|0.7656|0.8794|0.7975|0.7166|0.7979|0.7022|0.7901|0.8794|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000484667|protein_coding||||||||||rs3121570|833|-1||SNV|HGNC|HGNC:24149||||3||CCDS90837.1|ENSP00000425085||D6REB3.81|UPI0001D3BBEE||||||||0.6883|0.3555|0.7925|0.8591|0.7903|0.7832||||||||||0.6922|0.4098|0.767|0.7977|0.7656|0.8794|0.7975|0.7166|0.7979|0.7022|0.7901|0.8794|gnomADg_EAS|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,G|upstream_gene_variant|MODIFIER||ENSG00000272512|Transcript|ENST00000606034|lncRNA||||||||||rs3121570|2763|-1||SNV|||YES|||||||||||||||||0.6883|0.3555|0.7925|0.8591|0.7903|0.7832||||||||||0.6922|0.4098|0.767|0.7977|0.7656|0.8794|0.7975|0.7166|0.7979|0.7022|0.7901|0.8794|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding||||||||||rs3121570|331|1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||0.6883|0.3555|0.7925|0.8591|0.7903|0.7832||||||||||0.6922|0.4098|0.767|0.7977|0.7656|0.8794|0.7975|0.7166|0.7979|0.7022|0.7901|0.8794|gnomADg_EAS|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,G|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding||||||||||rs3121570|324|1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||0.6883|0.3555|0.7925|0.8591|0.7903|0.7832||||||||||0.6922|0.4098|0.767|0.7977|0.7656|0.8794|0.7975|0.7166|0.7979|0.7022|0.7901|0.8794|gnomADg_EAS|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000118|promoter||||||||||rs3121570||||SNV||||||||||||||||||||0.6883|0.3555|0.7925|0.8591|0.7903|0.7832||||||||||0.6922|0.4098|0.767|0.7977|0.7656|0.8794|0.7975|0.7166|0.7979|0.7022|0.7901|0.8794|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,34:0.957:34:0,1:0,14:0,21:0,0,14,20 -chr1 1000814 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|9%2C10;DP=20;ECNT=3;GERMQ=93;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=42;POPAF=7.3;TLOD=70.74;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000304952|protein_coding||||||||||rs3121570|717|-1||SNV|HGNC|HGNC:24149|YES|NM_021170.4||1|P1|CCDS5.1|ENSP00000304595|Q9HCC6.164||UPI000006EC19||||||||0.6883|0.3555|0.7925|0.8591|0.7903|0.7832||||||||||0.6922|0.4098|0.767|0.7977|0.7656|0.8794|0.7975|0.7166|0.7979|0.7022|0.7901|0.8794|gnomADg_EAS|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,G|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000428771|protein_coding||||||||||rs3121570|642|-1||SNV|HGNC|HGNC:24149||||2||CCDS44034.1|ENSP00000393198||E9PB28.82|UPI0001881B51||||||||0.6883|0.3555|0.7925|0.8591|0.7903|0.7832||||||||||0.6922|0.4098|0.767|0.7977|0.7656|0.8794|0.7975|0.7166|0.7979|0.7022|0.7901|0.8794|gnomADg_EAS|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKVGSRPGVRGATGGREGRGTQPVPDPQSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,G|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000481869|retained_intron||||||||||rs3121570|718|-1||SNV|HGNC|HGNC:24149||||2||||||||||||||0.6883|0.3555|0.7925|0.8591|0.7903|0.7832||||||||||0.6922|0.4098|0.767|0.7977|0.7656|0.8794|0.7975|0.7166|0.7979|0.7022|0.7901|0.8794|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000484667|protein_coding||||||||||rs3121570|833|-1||SNV|HGNC|HGNC:24149||||3||CCDS90837.1|ENSP00000425085||D6REB3.81|UPI0001D3BBEE||||||||0.6883|0.3555|0.7925|0.8591|0.7903|0.7832||||||||||0.6922|0.4098|0.767|0.7977|0.7656|0.8794|0.7975|0.7166|0.7979|0.7022|0.7901|0.8794|gnomADg_EAS|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,G|upstream_gene_variant|MODIFIER||ENSG00000272512|Transcript|ENST00000606034|lncRNA||||||||||rs3121570|2763|-1||SNV|||YES|||||||||||||||||0.6883|0.3555|0.7925|0.8591|0.7903|0.7832||||||||||0.6922|0.4098|0.767|0.7977|0.7656|0.8794|0.7975|0.7166|0.7979|0.7022|0.7901|0.8794|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding||||||||||rs3121570|331|1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||0.6883|0.3555|0.7925|0.8591|0.7903|0.7832||||||||||0.6922|0.4098|0.767|0.7977|0.7656|0.8794|0.7975|0.7166|0.7979|0.7022|0.7901|0.8794|gnomADg_EAS|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,G|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding||||||||||rs3121570|324|1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||0.6883|0.3555|0.7925|0.8591|0.7903|0.7832||||||||||0.6922|0.4098|0.767|0.7977|0.7656|0.8794|0.7975|0.7166|0.7979|0.7022|0.7901|0.8794|gnomADg_EAS|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000118|promoter||||||||||rs3121570||||SNV||||||||||||||||||||0.6883|0.3555|0.7925|0.8591|0.7903|0.7832||||||||||0.6922|0.4098|0.767|0.7977|0.7656|0.8794|0.7975|0.7166|0.7979|0.7022|0.7901|0.8794|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,19:0.925:19:0,0:0,9:0,11:0,0,9,10 -chr1 1000830 . C A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|7%2C9;DP=18;ECNT=3;GERMQ=87;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=25;POPAF=7.3;TLOD=57.77;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000304952|protein_coding||||||||||rs3121569|733|-1||SNV|HGNC|HGNC:24149|YES|NM_021170.4||1|P1|CCDS5.1|ENSP00000304595|Q9HCC6.164||UPI000006EC19||||||||0.8029|0.7292|0.8213|0.9147|0.7903|0.7873||||||||||0.7921|0.747|0.7675|0.837|0.7718|0.9289|0.7973|0.7484|0.8001|0.7708|0.7982|0.9289|gnomADg_EAS|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,A|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000428771|protein_coding||||||||||rs3121569|658|-1||SNV|HGNC|HGNC:24149||||2||CCDS44034.1|ENSP00000393198||E9PB28.82|UPI0001881B51||||||||0.8029|0.7292|0.8213|0.9147|0.7903|0.7873||||||||||0.7921|0.747|0.7675|0.837|0.7718|0.9289|0.7973|0.7484|0.8001|0.7708|0.7982|0.9289|gnomADg_EAS|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKVGSRPGVRGATGGREGRGTQPVPDPQSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,A|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000481869|retained_intron||||||||||rs3121569|734|-1||SNV|HGNC|HGNC:24149||||2||||||||||||||0.8029|0.7292|0.8213|0.9147|0.7903|0.7873||||||||||0.7921|0.747|0.7675|0.837|0.7718|0.9289|0.7973|0.7484|0.8001|0.7708|0.7982|0.9289|gnomADg_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000484667|protein_coding||||||||||rs3121569|849|-1||SNV|HGNC|HGNC:24149||||3||CCDS90837.1|ENSP00000425085||D6REB3.81|UPI0001D3BBEE||||||||0.8029|0.7292|0.8213|0.9147|0.7903|0.7873||||||||||0.7921|0.747|0.7675|0.837|0.7718|0.9289|0.7973|0.7484|0.8001|0.7708|0.7982|0.9289|gnomADg_EAS|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,A|upstream_gene_variant|MODIFIER||ENSG00000272512|Transcript|ENST00000606034|lncRNA||||||||||rs3121569|2779|-1||SNV|||YES|||||||||||||||||0.8029|0.7292|0.8213|0.9147|0.7903|0.7873||||||||||0.7921|0.747|0.7675|0.837|0.7718|0.9289|0.7973|0.7484|0.8001|0.7708|0.7982|0.9289|gnomADg_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding||||||||||rs3121569|315|1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||0.8029|0.7292|0.8213|0.9147|0.7903|0.7873||||||||||0.7921|0.747|0.7675|0.837|0.7718|0.9289|0.7973|0.7484|0.8001|0.7708|0.7982|0.9289|gnomADg_EAS|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,A|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding||||||||||rs3121569|308|1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||0.8029|0.7292|0.8213|0.9147|0.7903|0.7873||||||||||0.7921|0.747|0.7675|0.837|0.7718|0.9289|0.7973|0.7484|0.8001|0.7708|0.7982|0.9289|gnomADg_EAS|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000118|promoter||||||||||rs3121569||||SNV||||||||||||||||||||0.8029|0.7292|0.8213|0.9147|0.7903|0.7873||||||||||0.7921|0.747|0.7675|0.837|0.7718|0.9289|0.7973|0.7484|0.8001|0.7708|0.7982|0.9289|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,16:0.919:16:0,0:0,7:0,10:0,0,7,9 -chr1 1000830 . C A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|5%2C7;DP=14;ECNT=3;GERMQ=76;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=68;POPAF=7.3;TLOD=44.07;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000304952|protein_coding||||||||||rs3121569|733|-1||SNV|HGNC|HGNC:24149|YES|NM_021170.4||1|P1|CCDS5.1|ENSP00000304595|Q9HCC6.164||UPI000006EC19||||||||0.8029|0.7292|0.8213|0.9147|0.7903|0.7873||||||||||0.7921|0.747|0.7675|0.837|0.7718|0.9289|0.7973|0.7484|0.8001|0.7708|0.7982|0.9289|gnomADg_EAS|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,A|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000428771|protein_coding||||||||||rs3121569|658|-1||SNV|HGNC|HGNC:24149||||2||CCDS44034.1|ENSP00000393198||E9PB28.82|UPI0001881B51||||||||0.8029|0.7292|0.8213|0.9147|0.7903|0.7873||||||||||0.7921|0.747|0.7675|0.837|0.7718|0.9289|0.7973|0.7484|0.8001|0.7708|0.7982|0.9289|gnomADg_EAS|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKVGSRPGVRGATGGREGRGTQPVPDPQSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,A|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000481869|retained_intron||||||||||rs3121569|734|-1||SNV|HGNC|HGNC:24149||||2||||||||||||||0.8029|0.7292|0.8213|0.9147|0.7903|0.7873||||||||||0.7921|0.747|0.7675|0.837|0.7718|0.9289|0.7973|0.7484|0.8001|0.7708|0.7982|0.9289|gnomADg_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000484667|protein_coding||||||||||rs3121569|849|-1||SNV|HGNC|HGNC:24149||||3||CCDS90837.1|ENSP00000425085||D6REB3.81|UPI0001D3BBEE||||||||0.8029|0.7292|0.8213|0.9147|0.7903|0.7873||||||||||0.7921|0.747|0.7675|0.837|0.7718|0.9289|0.7973|0.7484|0.8001|0.7708|0.7982|0.9289|gnomADg_EAS|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,A|upstream_gene_variant|MODIFIER||ENSG00000272512|Transcript|ENST00000606034|lncRNA||||||||||rs3121569|2779|-1||SNV|||YES|||||||||||||||||0.8029|0.7292|0.8213|0.9147|0.7903|0.7873||||||||||0.7921|0.747|0.7675|0.837|0.7718|0.9289|0.7973|0.7484|0.8001|0.7708|0.7982|0.9289|gnomADg_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding||||||||||rs3121569|315|1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||0.8029|0.7292|0.8213|0.9147|0.7903|0.7873||||||||||0.7921|0.747|0.7675|0.837|0.7718|0.9289|0.7973|0.7484|0.8001|0.7708|0.7982|0.9289|gnomADg_EAS|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,A|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding||||||||||rs3121569|308|1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||0.8029|0.7292|0.8213|0.9147|0.7903|0.7873||||||||||0.7921|0.747|0.7675|0.837|0.7718|0.9289|0.7973|0.7484|0.8001|0.7708|0.7982|0.9289|gnomADg_EAS|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000118|promoter||||||||||rs3121569||||SNV||||||||||||||||||||0.8029|0.7292|0.8213|0.9147|0.7903|0.7873||||||||||0.7921|0.747|0.7675|0.837|0.7718|0.9289|0.7973|0.7484|0.8001|0.7708|0.7982|0.9289|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,12:0.9:12:0,0:0,5:0,8:0,0,5,7 -chr1 1001107 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=61;POPAF=7.3;TLOD=7.35;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000304952|protein_coding||||||||||rs116607870|1010|-1||SNV|HGNC|HGNC:24149|YES|NM_021170.4||1|P1|CCDS5.1|ENSP00000304595|Q9HCC6.164||UPI000006EC19||||||||0.0162|0.0008|0.0173|0|0.0427|0.0256||||||||||0.02701|0.006054|0.07566|0.02087|0.02131|0|0.03873|0.03846|0.0412|0.02199|0.02607|0.07566|gnomADg_AMI|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,G|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000428771|protein_coding||||||||||rs116607870|935|-1||SNV|HGNC|HGNC:24149||||2||CCDS44034.1|ENSP00000393198||E9PB28.82|UPI0001881B51||||||||0.0162|0.0008|0.0173|0|0.0427|0.0256||||||||||0.02701|0.006054|0.07566|0.02087|0.02131|0|0.03873|0.03846|0.0412|0.02199|0.02607|0.07566|gnomADg_AMI|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKVGSRPGVRGATGGREGRGTQPVPDPQSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,G|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000481869|retained_intron||||||||||rs116607870|1011|-1||SNV|HGNC|HGNC:24149||||2||||||||||||||0.0162|0.0008|0.0173|0|0.0427|0.0256||||||||||0.02701|0.006054|0.07566|0.02087|0.02131|0|0.03873|0.03846|0.0412|0.02199|0.02607|0.07566|gnomADg_AMI|||||||||||||,G|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000484667|protein_coding||||||||||rs116607870|1126|-1||SNV|HGNC|HGNC:24149||||3||CCDS90837.1|ENSP00000425085||D6REB3.81|UPI0001D3BBEE||||||||0.0162|0.0008|0.0173|0|0.0427|0.0256||||||||||0.02701|0.006054|0.07566|0.02087|0.02131|0|0.03873|0.03846|0.0412|0.02199|0.02607|0.07566|gnomADg_AMI|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,G|upstream_gene_variant|MODIFIER||ENSG00000272512|Transcript|ENST00000606034|lncRNA||||||||||rs116607870|3056|-1||SNV|||YES|||||||||||||||||0.0162|0.0008|0.0173|0|0.0427|0.0256||||||||||0.02701|0.006054|0.07566|0.02087|0.02131|0|0.03873|0.03846|0.0412|0.02199|0.02607|0.07566|gnomADg_AMI|||||||||||||,G|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding||||||||||rs116607870|38|1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||0.0162|0.0008|0.0173|0|0.0427|0.0256||||||||||0.02701|0.006054|0.07566|0.02087|0.02131|0|0.03873|0.03846|0.0412|0.02199|0.02607|0.07566|gnomADg_AMI|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,G|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding||||||||||rs116607870|31|1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||0.0162|0.0008|0.0173|0|0.0427|0.0256||||||||||0.02701|0.006054|0.07566|0.02087|0.02131|0|0.03873|0.03846|0.0412|0.02199|0.02607|0.07566|gnomADg_AMI|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000118|promoter||||||||||rs116607870||||SNV||||||||||||||||||||0.0162|0.0008|0.0173|0|0.0427|0.0256||||||||||0.02701|0.006054|0.07566|0.02087|0.02131|0|0.03873|0.03846|0.0412|0.02199|0.02607|0.07566|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1001107 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=3;ECNT=1;GERMQ=47;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=4;POPAF=7.3;TLOD=7.08;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000304952|protein_coding||||||||||rs116607870|1010|-1||SNV|HGNC|HGNC:24149|YES|NM_021170.4||1|P1|CCDS5.1|ENSP00000304595|Q9HCC6.164||UPI000006EC19||||||||0.0162|0.0008|0.0173|0|0.0427|0.0256||||||||||0.02701|0.006054|0.07566|0.02087|0.02131|0|0.03873|0.03846|0.0412|0.02199|0.02607|0.07566|gnomADg_AMI|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,G|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000428771|protein_coding||||||||||rs116607870|935|-1||SNV|HGNC|HGNC:24149||||2||CCDS44034.1|ENSP00000393198||E9PB28.82|UPI0001881B51||||||||0.0162|0.0008|0.0173|0|0.0427|0.0256||||||||||0.02701|0.006054|0.07566|0.02087|0.02131|0|0.03873|0.03846|0.0412|0.02199|0.02607|0.07566|gnomADg_AMI|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKVGSRPGVRGATGGREGRGTQPVPDPQSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,G|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000481869|retained_intron||||||||||rs116607870|1011|-1||SNV|HGNC|HGNC:24149||||2||||||||||||||0.0162|0.0008|0.0173|0|0.0427|0.0256||||||||||0.02701|0.006054|0.07566|0.02087|0.02131|0|0.03873|0.03846|0.0412|0.02199|0.02607|0.07566|gnomADg_AMI|||||||||||||,G|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000484667|protein_coding||||||||||rs116607870|1126|-1||SNV|HGNC|HGNC:24149||||3||CCDS90837.1|ENSP00000425085||D6REB3.81|UPI0001D3BBEE||||||||0.0162|0.0008|0.0173|0|0.0427|0.0256||||||||||0.02701|0.006054|0.07566|0.02087|0.02131|0|0.03873|0.03846|0.0412|0.02199|0.02607|0.07566|gnomADg_AMI|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,G|upstream_gene_variant|MODIFIER||ENSG00000272512|Transcript|ENST00000606034|lncRNA||||||||||rs116607870|3056|-1||SNV|||YES|||||||||||||||||0.0162|0.0008|0.0173|0|0.0427|0.0256||||||||||0.02701|0.006054|0.07566|0.02087|0.02131|0|0.03873|0.03846|0.0412|0.02199|0.02607|0.07566|gnomADg_AMI|||||||||||||,G|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding||||||||||rs116607870|38|1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||0.0162|0.0008|0.0173|0|0.0427|0.0256||||||||||0.02701|0.006054|0.07566|0.02087|0.02131|0|0.03873|0.03846|0.0412|0.02199|0.02607|0.07566|gnomADg_AMI|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,G|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding||||||||||rs116607870|31|1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||0.0162|0.0008|0.0173|0|0.0427|0.0256||||||||||0.02701|0.006054|0.07566|0.02087|0.02131|0|0.03873|0.03846|0.0412|0.02199|0.02607|0.07566|gnomADg_AMI|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000118|promoter||||||||||rs116607870||||SNV||||||||||||||||||||0.0162|0.0008|0.0173|0|0.0427|0.0256||||||||||0.02701|0.006054|0.07566|0.02087|0.02131|0|0.03873|0.03846|0.0412|0.02199|0.02607|0.07566|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.684:2:0,0:0,1:0,1:0,0,1,1 -chr1 1002308 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=20;POPAF=7.3;TLOD=7.65;SRC=custom;GRP=custom;CSQ=C|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000304952|protein_coding||||||||||rs2489000|2211|-1||SNV|HGNC|HGNC:24149|YES|NM_021170.4||1|P1|CCDS5.1|ENSP00000304595|Q9HCC6.164||UPI000006EC19||||||||0.9289|0.8124|0.9438|0.999|0.9573|0.9744||||||||||0.929|0.8395|0.9803|0.9502|0.9415|0.9998|0.9788|0.914|0.9608|0.934|0.9724|0.9998|gnomADg_EAS|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,C|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000428771|protein_coding||||||||||rs2489000|2136|-1||SNV|HGNC|HGNC:24149||||2||CCDS44034.1|ENSP00000393198||E9PB28.82|UPI0001881B51||||||||0.9289|0.8124|0.9438|0.999|0.9573|0.9744||||||||||0.929|0.8395|0.9803|0.9502|0.9415|0.9998|0.9788|0.914|0.9608|0.934|0.9724|0.9998|gnomADg_EAS|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKVGSRPGVRGATGGREGRGTQPVPDPQSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,C|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000481869|retained_intron||||||||||rs2489000|2212|-1||SNV|HGNC|HGNC:24149||||2||||||||||||||0.9289|0.8124|0.9438|0.999|0.9573|0.9744||||||||||0.929|0.8395|0.9803|0.9502|0.9415|0.9998|0.9788|0.914|0.9608|0.934|0.9724|0.9998|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000484667|protein_coding||||||||||rs2489000|2327|-1||SNV|HGNC|HGNC:24149||||3||CCDS90837.1|ENSP00000425085||D6REB3.81|UPI0001D3BBEE||||||||0.9289|0.8124|0.9438|0.999|0.9573|0.9744||||||||||0.929|0.8395|0.9803|0.9502|0.9415|0.9998|0.9788|0.914|0.9608|0.934|0.9724|0.9998|gnomADg_EAS|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,C|upstream_gene_variant|MODIFIER||ENSG00000272512|Transcript|ENST00000606034|lncRNA||||||||||rs2489000|4257|-1||SNV|||YES|||||||||||||||||0.9289|0.8124|0.9438|0.999|0.9573|0.9744||||||||||0.929|0.8395|0.9803|0.9502|0.9415|0.9998|0.9788|0.914|0.9608|0.934|0.9724|0.9998|gnomADg_EAS|||||||||||||,C|intron_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding||1/2|ENST00000624652.1:c.-108+1045T>C|||||||rs2489000||1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||0.9289|0.8124|0.9438|0.999|0.9573|0.9744||||||||||0.929|0.8395|0.9803|0.9502|0.9415|0.9998|0.9788|0.914|0.9608|0.934|0.9724|0.9998|gnomADg_EAS|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,C|intron_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding||1/2|ENST00000624697.4:c.-108+1027T>C|||||||rs2489000||1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||0.9289|0.8124|0.9438|0.999|0.9573|0.9744||||||||||0.929|0.8395|0.9803|0.9502|0.9415|0.9998|0.9788|0.914|0.9608|0.934|0.9724|0.9998|gnomADg_EAS|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000118|promoter||||||||||rs2489000||||SNV||||||||||||||||||||0.9289|0.8124|0.9438|0.999|0.9573|0.9744||||||||||0.929|0.8395|0.9803|0.9502|0.9415|0.9998|0.9788|0.914|0.9608|0.934|0.9724|0.9998|gnomADg_EAS|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000249808|CTCF_binding_site||||||||||rs2489000||||SNV||||||||||||||||||||0.9289|0.8124|0.9438|0.999|0.9573|0.9744||||||||||0.929|0.8395|0.9803|0.9502|0.9415|0.9998|0.9788|0.914|0.9608|0.934|0.9724|0.9998|gnomADg_EAS|||||||||||||,C|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00522112926|||||||||||rs2489000||-1||SNV||||||||||||||||||||0.9289|0.8124|0.9438|0.999|0.9573|0.9744||||||||||0.929|0.8395|0.9803|0.9502|0.9415|0.9998|0.9788|0.914|0.9608|0.934|0.9724|0.9998|gnomADg_EAS|||||ENSPFM0017|4|Y|-0.104|JDP2&NFE2&BACH1|||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1004625 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=89;POPAF=7.3;TLOD=7.55;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000304952|protein_coding||||||||||rs2799056|4528|-1||SNV|HGNC|HGNC:24149|YES|NM_021170.4||1|P1|CCDS5.1|ENSP00000304595|Q9HCC6.164||UPI000006EC19||||||||0.3724|0.5794|0.2983|0.1597|0.3807|0.3558||||||||||0.4157|0.5316|0.466|0.2996|0.3012|0.1687|0.4314|0.3576|0.399|0.3923|0.3438|0.5794|AFR|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,G|downstream_gene_variant|MODIFIER||ENSG00000231702|Transcript|ENST00000423619|processed_pseudogene||||||||||rs2799056|3451|-1||SNV|||YES|||||||||||||||||0.3724|0.5794|0.2983|0.1597|0.3807|0.3558||||||||||0.4157|0.5316|0.466|0.2996|0.3012|0.1687|0.4314|0.3576|0.399|0.3923|0.3438|0.5794|AFR|||||||||||||,G|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000428771|protein_coding||||||||||rs2799056|4453|-1||SNV|HGNC|HGNC:24149||||2||CCDS44034.1|ENSP00000393198||E9PB28.82|UPI0001881B51||||||||0.3724|0.5794|0.2983|0.1597|0.3807|0.3558||||||||||0.4157|0.5316|0.466|0.2996|0.3012|0.1687|0.4314|0.3576|0.399|0.3923|0.3438|0.5794|AFR|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKVGSRPGVRGATGGREGRGTQPVPDPQSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,G|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000481869|retained_intron||||||||||rs2799056|4529|-1||SNV|HGNC|HGNC:24149||||2||||||||||||||0.3724|0.5794|0.2983|0.1597|0.3807|0.3558||||||||||0.4157|0.5316|0.466|0.2996|0.3012|0.1687|0.4314|0.3576|0.399|0.3923|0.3438|0.5794|AFR|||||||||||||,G|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000484667|protein_coding||||||||||rs2799056|4644|-1||SNV|HGNC|HGNC:24149||||3||CCDS90837.1|ENSP00000425085||D6REB3.81|UPI0001D3BBEE||||||||0.3724|0.5794|0.2983|0.1597|0.3807|0.3558||||||||||0.4157|0.5316|0.466|0.2996|0.3012|0.1687|0.4314|0.3576|0.399|0.3923|0.3438|0.5794|AFR|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,G|intron_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding||1/2|ENST00000624652.1:c.-108+3362A>G|||||||rs2799056||1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||0.3724|0.5794|0.2983|0.1597|0.3807|0.3558||||||||||0.4157|0.5316|0.466|0.2996|0.3012|0.1687|0.4314|0.3576|0.399|0.3923|0.3438|0.5794|AFR|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,G|intron_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding||1/2|ENST00000624697.4:c.-108+3344A>G|||||||rs2799056||1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||0.3724|0.5794|0.2983|0.1597|0.3807|0.3558||||||||||0.4157|0.5316|0.466|0.2996|0.3012|0.1687|0.4314|0.3576|0.399|0.3923|0.3438|0.5794|AFR|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1008088 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=39;POPAF=7.3;TLOD=7.15;SRC=custom;GRP=custom;CSQ=C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000231702|Transcript|ENST00000423619|processed_pseudogene|1/1||ENST00000423619.2:n.142A>G||142|||||rs3121567||-1||SNV|||YES|||||||||||||||||0.8938|0.6815|0.9352|0.999|0.9602|0.9744||||||||||0.8882|0.6934|0.9802|0.9385|0.9355|0.9998|0.9795|0.8924|0.9624|0.9092|0.9723|0.9998|gnomADg_EAS|||1|30072576|||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000224969|Transcript|ENST00000458555|lncRNA||||||||||rs3121567|3909|-1||SNV|||YES|||2||||||||||||||0.8938|0.6815|0.9352|0.999|0.9602|0.9744||||||||||0.8882|0.6934|0.9802|0.9385|0.9355|0.9998|0.9795|0.8924|0.9624|0.9092|0.9723|0.9998|gnomADg_EAS|||1|30072576|||||||||,C|intron_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding||1/2|ENST00000624652.1:c.-107-106T>C|||||||rs3121567||1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||0.8938|0.6815|0.9352|0.999|0.9602|0.9744||||||||||0.8882|0.6934|0.9802|0.9385|0.9355|0.9998|0.9795|0.8924|0.9624|0.9092|0.9723|0.9998|gnomADg_EAS|||1|30072576|||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,C|intron_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding||1/2|ENST00000624697.4:c.-107-106T>C|||||||rs3121567||1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||0.8938|0.6815|0.9352|0.999|0.9602|0.9744||||||||||0.8882|0.6934|0.9802|0.9385|0.9355|0.9998|0.9795|0.8924|0.9624|0.9092|0.9723|0.9998|gnomADg_EAS|||1|30072576|||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1009083 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C1;DP=4;ECNT=1;GERMQ=37;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=30;POPAF=7.3;TLOD=6.65;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000231702|Transcript|ENST00000423619|processed_pseudogene|||||||||||854|-1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000224969|Transcript|ENST00000458555|lncRNA|||||||||||2914|-1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding||2/2|ENST00000624652.1:c.-22+804A>G|||||||||1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||||||||||||||||||||||||||||||||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,G|intron_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding||2/2|ENST00000624697.4:c.-22+804A>G|||||||||1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||||||||||||||||||||||||||||||||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,G|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000649529|protein_coding|||||||||||4414|1||SNV|HGNC|HGNC:4053|YES|NM_005101.4|||P1|CCDS6.1|ENSP00000496832|P05161.233||UPI0000048D70||1||||||||||||||||||||||||||||||||||||||||||||MGWDLTVKMLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918389|enhancer||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.5:4:0,0:1,1:1,1:1,1,1,1 -chr1 1009168 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C1;DP=4;ECNT=2;GERMQ=37;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=100;POPAF=7.3;TLOD=6.98;SRC=custom;GRP=custom;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000231702|Transcript|ENST00000423619|processed_pseudogene|||||||||||939|-1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000224969|Transcript|ENST00000458555|lncRNA|||||||||||2829|-1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding||2/2|ENST00000624652.1:c.-22+889T>C|||||||||1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||||||||||||||||||||||||||||||||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,C|intron_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding||2/2|ENST00000624697.4:c.-22+889T>C|||||||||1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||||||||||||||||||||||||||||||||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,C|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000649529|protein_coding|||||||||||4329|1||SNV|HGNC|HGNC:4053|YES|NM_005101.4|||P1|CCDS6.1|ENSP00000496832|P05161.233||UPI0000048D70||1||||||||||||||||||||||||||||||||||||||||||||MGWDLTVKMLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918389|enhancer||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.5:4:0,0:1,1:1,1:1,1,1,1 -chr1 1009184 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=2;GERMQ=47;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=84;POPAF=7.3;TLOD=7.35;SRC=custom;GRP=custom;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000231702|Transcript|ENST00000423619|processed_pseudogene||||||||||rs3128117|955|-1||SNV|||YES|||||||||||||||||0.3001|0.3033|0.2651|0.1637|0.3926|0.3661||||||||||0.3463|0.2822|0.3879|0.2656|0.3159|0.174|0.4608|0.3228|0.3998|0.338|0.3506|0.4608|gnomADg_FIN|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000224969|Transcript|ENST00000458555|lncRNA||||||||||rs3128117|2813|-1||SNV|||YES|||2||||||||||||||0.3001|0.3033|0.2651|0.1637|0.3926|0.3661||||||||||0.3463|0.2822|0.3879|0.2656|0.3159|0.174|0.4608|0.3228|0.3998|0.338|0.3506|0.4608|gnomADg_FIN|||||||||||||,C|intron_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding||2/2|ENST00000624652.1:c.-22+905T>C|||||||rs3128117||1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||0.3001|0.3033|0.2651|0.1637|0.3926|0.3661||||||||||0.3463|0.2822|0.3879|0.2656|0.3159|0.174|0.4608|0.3228|0.3998|0.338|0.3506|0.4608|gnomADg_FIN|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,C|intron_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding||2/2|ENST00000624697.4:c.-22+905T>C|||||||rs3128117||1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||0.3001|0.3033|0.2651|0.1637|0.3926|0.3661||||||||||0.3463|0.2822|0.3879|0.2656|0.3159|0.174|0.4608|0.3228|0.3998|0.338|0.3506|0.4608|gnomADg_FIN|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,C|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000649529|protein_coding||||||||||rs3128117|4313|1||SNV|HGNC|HGNC:4053|YES|NM_005101.4|||P1|CCDS6.1|ENSP00000496832|P05161.233||UPI0000048D70||1||||||0.3001|0.3033|0.2651|0.1637|0.3926|0.3661||||||||||0.3463|0.2822|0.3879|0.2656|0.3159|0.174|0.4608|0.3228|0.3998|0.338|0.3506|0.4608|gnomADg_FIN|||||||||||MGWDLTVKMLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918389|enhancer||||||||||rs3128117||||SNV||||||||||||||||||||0.3001|0.3033|0.2651|0.1637|0.3926|0.3661||||||||||0.3463|0.2822|0.3879|0.2656|0.3159|0.174|0.4608|0.3228|0.3998|0.338|0.3506|0.4608|gnomADg_FIN||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1011654 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C1;DP=3;ECNT=1;GERMQ=50;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=51;POPAF=7.3;TLOD=10.45;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000231702|Transcript|ENST00000423619|processed_pseudogene||||||||||rs2465126|3425|-1||SNV|||YES|||||||||||||||||0.8257|0.4826|0.9179|0.9444|0.9553|0.9683||||||||||0.8377|0.5372|0.9803|0.9168|0.9098|0.9513|0.9746|0.8829|0.9575|0.8639|0.9594|0.9803|gnomADg_AMI|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000224969|Transcript|ENST00000458555|lncRNA||||||||||rs2465126|343|-1||SNV|||YES|||2||||||||||||||0.8257|0.4826|0.9179|0.9444|0.9553|0.9683||||||||||0.8377|0.5372|0.9803|0.9168|0.9098|0.9513|0.9746|0.8829|0.9575|0.8639|0.9594|0.9803|gnomADg_AMI|||||||||||||,A|intron_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding||2/2|ENST00000624652.1:c.-21-2330G>A|||||||rs2465126||1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||0.8257|0.4826|0.9179|0.9444|0.9553|0.9683||||||||||0.8377|0.5372|0.9803|0.9168|0.9098|0.9513|0.9746|0.8829|0.9575|0.8639|0.9594|0.9803|gnomADg_AMI|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,A|intron_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding||2/2|ENST00000624697.4:c.-21-2330G>A|||||||rs2465126||1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||0.8257|0.4826|0.9179|0.9444|0.9553|0.9683||||||||||0.8377|0.5372|0.9803|0.9168|0.9098|0.9513|0.9746|0.8829|0.9575|0.8639|0.9594|0.9803|gnomADg_AMI|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,A|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000649529|protein_coding||||||||||rs2465126|1843|1||SNV|HGNC|HGNC:4053|YES|NM_005101.4|||P1|CCDS6.1|ENSP00000496832|P05161.233||UPI0000048D70||1||||||0.8257|0.4826|0.9179|0.9444|0.9553|0.9683||||||||||0.8377|0.5372|0.9803|0.9168|0.9098|0.9513|0.9746|0.8829|0.9575|0.8639|0.9594|0.9803|gnomADg_AMI|||||||||||MGWDLTVKMLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,0:0,2:0,2:0,0,2,1 -chr1 1012158 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C3;DP=5;ECNT=1;GERMQ=55;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=53;POPAF=7.3;TLOD=17.15;SRC=custom;GRP=custom;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000231702|Transcript|ENST00000423619|processed_pseudogene||||||||||rs2465125|3929|-1||SNV|||YES|||||||||||||||||0.7965|0.4107|0.9049|0.9226|0.9433|0.9601||||||||||0.8123|0.4766|0.9737|0.9058|0.9061|0.9229|0.9549|0.8639|0.9471|0.8421|0.9445|0.9737|gnomADg_AMI|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000224969|Transcript|ENST00000458555|lncRNA|2/2||ENST00000458555.1:n.310G>A||310|||||rs2465125||-1||SNV|||YES|||2||||||||||||||0.7965|0.4107|0.9049|0.9226|0.9433|0.9601||||||||||0.8123|0.4766|0.9737|0.9058|0.9061|0.9229|0.9549|0.8639|0.9471|0.8421|0.9445|0.9737|gnomADg_AMI|||||||||||||,T|intron_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding||2/2|ENST00000624652.1:c.-21-1826C>T|||||||rs2465125||1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||0.7965|0.4107|0.9049|0.9226|0.9433|0.9601||||||||||0.8123|0.4766|0.9737|0.9058|0.9061|0.9229|0.9549|0.8639|0.9471|0.8421|0.9445|0.9737|gnomADg_AMI|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,T|intron_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding||2/2|ENST00000624697.4:c.-21-1826C>T|||||||rs2465125||1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||0.7965|0.4107|0.9049|0.9226|0.9433|0.9601||||||||||0.8123|0.4766|0.9737|0.9058|0.9061|0.9229|0.9549|0.8639|0.9471|0.8421|0.9445|0.9737|gnomADg_AMI|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,T|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000649529|protein_coding||||||||||rs2465125|1339|1||SNV|HGNC|HGNC:4053|YES|NM_005101.4|||P1|CCDS6.1|ENSP00000496832|P05161.233||UPI0000048D70||1||||||0.7965|0.4107|0.9049|0.9226|0.9433|0.9601||||||||||0.8123|0.4766|0.9737|0.9058|0.9061|0.9229|0.9549|0.8639|0.9471|0.8421|0.9445|0.9737|gnomADg_AMI|||||||||||MGWDLTVKMLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.8:5:0,1:0,2:0,3:0,0,2,3 -chr1 1013312 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C1;DP=4;ECNT=1;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=59;POPAF=7.3;TLOD=10.65;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000224969|Transcript|ENST00000458555|lncRNA||||||||||rs2341365|119|-1||SNV|||YES|||2||||||||||||||0.8157|0.4637|0.9121|0.9236|0.9553|0.9683||||||||||0.8282|0.5148|0.9803|0.9115|0.9064|0.9229|0.9554|0.8734|0.9566|0.8566|0.9507|0.9803|gnomADg_AMI|||||||||||||,A|intron_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding||2/2|ENST00000624652.1:c.-21-672G>A|||||||rs2341365||1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||0.8157|0.4637|0.9121|0.9236|0.9553|0.9683||||||||||0.8282|0.5148|0.9803|0.9115|0.9064|0.9229|0.9554|0.8734|0.9566|0.8566|0.9507|0.9803|gnomADg_AMI|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,A|intron_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding||2/2|ENST00000624697.4:c.-21-672G>A|||||||rs2341365||1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||0.8157|0.4637|0.9121|0.9236|0.9553|0.9683||||||||||0.8282|0.5148|0.9803|0.9115|0.9064|0.9229|0.9554|0.8734|0.9566|0.8566|0.9507|0.9803|gnomADg_AMI|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,A|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000649529|protein_coding||||||||||rs2341365|185|1||SNV|HGNC|HGNC:4053|YES|NM_005101.4|||P1|CCDS6.1|ENSP00000496832|P05161.233||UPI0000048D70||1||||||0.8157|0.4637|0.9121|0.9236|0.9553|0.9683||||||||||0.8282|0.5148|0.9803|0.9115|0.9064|0.9229|0.9554|0.8734|0.9566|0.8566|0.9507|0.9803|gnomADg_AMI|||||||||||MGWDLTVKMLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164809|promoter||||||||||rs2341365||||SNV||||||||||||||||||||0.8157|0.4637|0.9121|0.9236|0.9553|0.9683||||||||||0.8282|0.5148|0.9803|0.9115|0.9064|0.9229|0.9554|0.8734|0.9566|0.8566|0.9507|0.9803|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,0:0,2:0,2:0,0,2,1 -chr1 1013312 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=56;POPAF=7.3;TLOD=7.25;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000224969|Transcript|ENST00000458555|lncRNA||||||||||rs2341365|119|-1||SNV|||YES|||2||||||||||||||0.8157|0.4637|0.9121|0.9236|0.9553|0.9683||||||||||0.8282|0.5148|0.9803|0.9115|0.9064|0.9229|0.9554|0.8734|0.9566|0.8566|0.9507|0.9803|gnomADg_AMI|||||||||||||,A|intron_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding||2/2|ENST00000624652.1:c.-21-672G>A|||||||rs2341365||1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||0.8157|0.4637|0.9121|0.9236|0.9553|0.9683||||||||||0.8282|0.5148|0.9803|0.9115|0.9064|0.9229|0.9554|0.8734|0.9566|0.8566|0.9507|0.9803|gnomADg_AMI|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,A|intron_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding||2/2|ENST00000624697.4:c.-21-672G>A|||||||rs2341365||1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||0.8157|0.4637|0.9121|0.9236|0.9553|0.9683||||||||||0.8282|0.5148|0.9803|0.9115|0.9064|0.9229|0.9554|0.8734|0.9566|0.8566|0.9507|0.9803|gnomADg_AMI|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,A|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000649529|protein_coding||||||||||rs2341365|185|1||SNV|HGNC|HGNC:4053|YES|NM_005101.4|||P1|CCDS6.1|ENSP00000496832|P05161.233||UPI0000048D70||1||||||0.8157|0.4637|0.9121|0.9236|0.9553|0.9683||||||||||0.8282|0.5148|0.9803|0.9115|0.9064|0.9229|0.9554|0.8734|0.9566|0.8566|0.9507|0.9803|gnomADg_AMI|||||||||||MGWDLTVKMLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164809|promoter||||||||||rs2341365||||SNV||||||||||||||||||||0.8157|0.4637|0.9121|0.9236|0.9553|0.9683||||||||||0.8282|0.5148|0.9803|0.9115|0.9064|0.9229|0.9554|0.8734|0.9566|0.8566|0.9507|0.9803|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1013490 . C G . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C1;DP=4;ECNT=3;GERMQ=52;MBQ=0,30;MFRL=0,0;MMQ=60,60;MPOS=77;POPAF=7.3;TLOD=17.4;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000224969|Transcript|ENST00000458555|lncRNA||||||||||rs4615788|297|-1||SNV|||YES|||2||||||||||||||0.9030|0.7194|0.9308|0.999|0.9573|0.9765||||||||||0.8985|0.7417|0.9813|0.9357|0.9101|0.9998|0.9755|0.8861|0.9587|0.9067|0.9675|0.9998|gnomADg_EAS|benign||1|34814699&34648354&36168886|||||||||,G|intron_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding||2/2|ENST00000624652.1:c.-21-494C>G|||||||rs4615788||1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||0.9030|0.7194|0.9308|0.999|0.9573|0.9765||||||||||0.8985|0.7417|0.9813|0.9357|0.9101|0.9998|0.9755|0.8861|0.9587|0.9067|0.9675|0.9998|gnomADg_EAS|benign||1|34814699&34648354&36168886|||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,G|intron_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding||2/2|ENST00000624697.4:c.-21-494C>G|||||||rs4615788||1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||0.9030|0.7194|0.9308|0.999|0.9573|0.9765||||||||||0.8985|0.7417|0.9813|0.9357|0.9101|0.9998|0.9755|0.8861|0.9587|0.9067|0.9675|0.9998|gnomADg_EAS|benign||1|34814699&34648354&36168886|||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,G|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000649529|protein_coding||||||||||rs4615788|7|1||SNV|HGNC|HGNC:4053|YES|NM_005101.4|||P1|CCDS6.1|ENSP00000496832|P05161.233||UPI0000048D70||1||||||0.9030|0.7194|0.9308|0.999|0.9573|0.9765||||||||||0.8985|0.7417|0.9813|0.9357|0.9101|0.9998|0.9755|0.8861|0.9587|0.9067|0.9675|0.9998|gnomADg_EAS|benign||1|34814699&34648354&36168886|||||||MGWDLTVKMLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164809|promoter||||||||||rs4615788||||SNV||||||||||||||||||||0.9030|0.7194|0.9308|0.999|0.9573|0.9765||||||||||0.8985|0.7417|0.9813|0.9357|0.9101|0.9998|0.9755|0.8861|0.9587|0.9067|0.9675|0.9998|gnomADg_EAS|benign||1|34814699&34648354&36168886||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,4:0.8:4:0,0:0,3:0,3:0|1:1013466_T_TA:1013466:0,0,3,1 -chr1 1013490 . C G . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=3;ECNT=5;GERMQ=47;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=120;POPAF=7.3;TLOD=8;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000224969|Transcript|ENST00000458555|lncRNA||||||||||rs4615788|297|-1||SNV|||YES|||2||||||||||||||0.9030|0.7194|0.9308|0.999|0.9573|0.9765||||||||||0.8985|0.7417|0.9813|0.9357|0.9101|0.9998|0.9755|0.8861|0.9587|0.9067|0.9675|0.9998|gnomADg_EAS|benign||1|34814699&34648354&36168886|||||||||,G|intron_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding||2/2|ENST00000624652.1:c.-21-494C>G|||||||rs4615788||1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||0.9030|0.7194|0.9308|0.999|0.9573|0.9765||||||||||0.8985|0.7417|0.9813|0.9357|0.9101|0.9998|0.9755|0.8861|0.9587|0.9067|0.9675|0.9998|gnomADg_EAS|benign||1|34814699&34648354&36168886|||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,G|intron_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding||2/2|ENST00000624697.4:c.-21-494C>G|||||||rs4615788||1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||0.9030|0.7194|0.9308|0.999|0.9573|0.9765||||||||||0.8985|0.7417|0.9813|0.9357|0.9101|0.9998|0.9755|0.8861|0.9587|0.9067|0.9675|0.9998|gnomADg_EAS|benign||1|34814699&34648354&36168886|||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,G|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000649529|protein_coding||||||||||rs4615788|7|1||SNV|HGNC|HGNC:4053|YES|NM_005101.4|||P1|CCDS6.1|ENSP00000496832|P05161.233||UPI0000048D70||1||||||0.9030|0.7194|0.9308|0.999|0.9573|0.9765||||||||||0.8985|0.7417|0.9813|0.9357|0.9101|0.9998|0.9755|0.8861|0.9587|0.9067|0.9675|0.9998|gnomADg_EAS|benign||1|34814699&34648354&36168886|||||||MGWDLTVKMLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164809|promoter||||||||||rs4615788||||SNV||||||||||||||||||||0.9030|0.7194|0.9308|0.999|0.9573|0.9765||||||||||0.8985|0.7417|0.9813|0.9357|0.9101|0.9998|0.9755|0.8861|0.9587|0.9067|0.9675|0.9998|gnomADg_EAS|benign||1|34814699&34648354&36168886||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,2:0.683:2:0,0:0,1:0,1:0|1:1013466_T_TA:1013466:0,0,1,1 -chr1 1013541 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|46%2C3;DP=52;ECNT=3;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=28;POPAF=7.3;TLOD=179.34;SRC=custom;GRP=custom;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000224969|Transcript|ENST00000458555|lncRNA||||||||||rs15842|348|-1||SNV|||YES|||2||||||||||||||0.9032|0.7201|0.9308|0.999|0.9573|0.9765|0.9457|0.7382|0.9581|0.9043|0.9998|0.9713|0.9578|0.9377|0.9608|0.8988|0.7432|0.9802|0.9357|0.9101|0.9998|0.9755|0.8861|0.9588|0.9067|0.9679|0.9998|gnomADe_EAS&gnomADg_EAS|benign||1|26563749&25919455|||||||||,C|intron_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding||2/2|ENST00000624652.1:c.-21-443T>C|||||||rs15842||1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||0.9032|0.7201|0.9308|0.999|0.9573|0.9765|0.9457|0.7382|0.9581|0.9043|0.9998|0.9713|0.9578|0.9377|0.9608|0.8988|0.7432|0.9802|0.9357|0.9101|0.9998|0.9755|0.8861|0.9588|0.9067|0.9679|0.9998|gnomADe_EAS&gnomADg_EAS|benign||1|26563749&25919455|||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,C|intron_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding||2/2|ENST00000624697.4:c.-21-443T>C|||||||rs15842||1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||0.9032|0.7201|0.9308|0.999|0.9573|0.9765|0.9457|0.7382|0.9581|0.9043|0.9998|0.9713|0.9578|0.9377|0.9608|0.8988|0.7432|0.9802|0.9357|0.9101|0.9998|0.9755|0.8861|0.9588|0.9067|0.9679|0.9998|gnomADe_EAS&gnomADg_EAS|benign||1|26563749&25919455|||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,C|5_prime_UTR_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000649529|protein_coding|1/2||ENST00000649529.1:c.-33T>C||45|||||rs15842||1||SNV|HGNC|HGNC:4053|YES|NM_005101.4|||P1|CCDS6.1|ENSP00000496832|P05161.233||UPI0000048D70||1||||||0.9032|0.7201|0.9308|0.999|0.9573|0.9765|0.9457|0.7382|0.9581|0.9043|0.9998|0.9713|0.9578|0.9377|0.9608|0.8988|0.7432|0.9802|0.9357|0.9101|0.9998|0.9755|0.8861|0.9588|0.9067|0.9679|0.9998|gnomADe_EAS&gnomADg_EAS|benign||1|26563749&25919455|||||||MGWDLTVKMLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164809|promoter||||||||||rs15842||||SNV||||||||||||||||||||0.9032|0.7201|0.9308|0.999|0.9573|0.9765|0.9457|0.7382|0.9581|0.9043|0.9998|0.9713|0.9578|0.9377|0.9608|0.8988|0.7432|0.9802|0.9357|0.9101|0.9998|0.9755|0.8861|0.9588|0.9067|0.9679|0.9998|gnomADe_EAS&gnomADg_EAS|benign||1|26563749&25919455||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,49:0.98:49:0,0:0,46:0,47:0,0,46,3 -chr1 1013541 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|47%2C2;DP=51;ECNT=5;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=29;POPAF=7.3;TLOD=180.17;SRC=custom;GRP=custom;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000224969|Transcript|ENST00000458555|lncRNA||||||||||rs15842|348|-1||SNV|||YES|||2||||||||||||||0.9032|0.7201|0.9308|0.999|0.9573|0.9765|0.9457|0.7382|0.9581|0.9043|0.9998|0.9713|0.9578|0.9377|0.9608|0.8988|0.7432|0.9802|0.9357|0.9101|0.9998|0.9755|0.8861|0.9588|0.9067|0.9679|0.9998|gnomADe_EAS&gnomADg_EAS|benign||1|26563749&25919455|||||||||,C|intron_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding||2/2|ENST00000624652.1:c.-21-443T>C|||||||rs15842||1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||0.9032|0.7201|0.9308|0.999|0.9573|0.9765|0.9457|0.7382|0.9581|0.9043|0.9998|0.9713|0.9578|0.9377|0.9608|0.8988|0.7432|0.9802|0.9357|0.9101|0.9998|0.9755|0.8861|0.9588|0.9067|0.9679|0.9998|gnomADe_EAS&gnomADg_EAS|benign||1|26563749&25919455|||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,C|intron_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding||2/2|ENST00000624697.4:c.-21-443T>C|||||||rs15842||1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||0.9032|0.7201|0.9308|0.999|0.9573|0.9765|0.9457|0.7382|0.9581|0.9043|0.9998|0.9713|0.9578|0.9377|0.9608|0.8988|0.7432|0.9802|0.9357|0.9101|0.9998|0.9755|0.8861|0.9588|0.9067|0.9679|0.9998|gnomADe_EAS&gnomADg_EAS|benign||1|26563749&25919455|||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,C|5_prime_UTR_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000649529|protein_coding|1/2||ENST00000649529.1:c.-33T>C||45|||||rs15842||1||SNV|HGNC|HGNC:4053|YES|NM_005101.4|||P1|CCDS6.1|ENSP00000496832|P05161.233||UPI0000048D70||1||||||0.9032|0.7201|0.9308|0.999|0.9573|0.9765|0.9457|0.7382|0.9581|0.9043|0.9998|0.9713|0.9578|0.9377|0.9608|0.8988|0.7432|0.9802|0.9357|0.9101|0.9998|0.9755|0.8861|0.9588|0.9067|0.9679|0.9998|gnomADe_EAS&gnomADg_EAS|benign||1|26563749&25919455|||||||MGWDLTVKMLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164809|promoter||||||||||rs15842||||SNV||||||||||||||||||||0.9032|0.7201|0.9308|0.999|0.9573|0.9765|0.9457|0.7382|0.9581|0.9043|0.9998|0.9713|0.9578|0.9377|0.9608|0.8988|0.7432|0.9802|0.9357|0.9101|0.9998|0.9755|0.8861|0.9588|0.9067|0.9679|0.9998|gnomADe_EAS&gnomADg_EAS|benign||1|26563749&25919455||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,49:0.98:49:0,0:0,47:0,47:0,0,47,2 -chr1 1013568 . A C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=54%2C1|1%2C1;DP=57;ECNT=5;GERMQ=93;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=51;POPAF=7.3;TLOD=4.27;SRC=custom;GRP=custom;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000224969|Transcript|ENST00000458555|lncRNA|||||||||||375|-1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding||2/2|ENST00000624652.1:c.-21-416A>C|||||||||1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||||||||||||||||||||||||||||||||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,C|intron_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding||2/2|ENST00000624697.4:c.-21-416A>C|||||||||1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||||||||||||||||||||||||||||||||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,C|5_prime_UTR_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000649529|protein_coding|1/2||ENST00000649529.1:c.-6A>C||72|||||||1||SNV|HGNC|HGNC:4053|YES|NM_005101.4|||P1|CCDS6.1|ENSP00000496832|P05161.233||UPI0000048D70||1||||||||||||||||||||||||||||||||||||||||||||MGWDLTVKMLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164809|promoter||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:55,2:0.035:57:0,0:54,1:54,1:54,1,1,1 -chr1 1013617 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=5%2C4|1%2C1;DP=11;ECNT=5;GERMQ=47;MBQ=35,34;MFRL=0,0;MMQ=60,60;MPOS=63;POPAF=7.3;TLOD=5.91;SRC=custom;GRP=custom;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000224969|Transcript|ENST00000458555|lncRNA||||||||||rs1427632109|424|-1||SNV|||YES|||2||||||||||||||||||||4.046e-06|0|0|0|0|0|0|0.0001657|0||||||||||||0.0001657|gnomADe_OTH|||||||||||||,T|intron_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding||2/2|ENST00000624652.1:c.-21-367C>T|||||||rs1427632109||1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||||||||4.046e-06|0|0|0|0|0|0|0.0001657|0||||||||||||0.0001657|gnomADe_OTH|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,T|intron_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding||2/2|ENST00000624697.4:c.-21-367C>T|||||||rs1427632109||1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||||||||4.046e-06|0|0|0|0|0|0|0.0001657|0||||||||||||0.0001657|gnomADe_OTH|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,T|intron_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000649529|protein_coding||1/1|ENST00000649529.1:c.3+41C>T|||||||rs1427632109||1||SNV|HGNC|HGNC:4053|YES|NM_005101.4|||P1|CCDS6.1|ENSP00000496832|P05161.233||UPI0000048D70||1||||||||||||4.046e-06|0|0|0|0|0|0|0.0001657|0||||||||||||0.0001657|gnomADe_OTH|||||||||||MGWDLTVKMLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164809|promoter||||||||||rs1427632109||||SNV||||||||||||||||||||||||||4.046e-06|0|0|0|0|0|0|0.0001657|0||||||||||||0.0001657|gnomADe_OTH||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:9,2:0.222:11:0,0:5,1:6,1:5,4,1,1 -chr1 1013855 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C6;DP=12;ECNT=1;GERMQ=69;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=77;POPAF=7.3;TLOD=35.6;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000224969|Transcript|ENST00000458555|lncRNA||||||||||rs2465124|662|-1||SNV|||YES|||2||||||||||||||0.8998|0.7073|0.9308|0.999|0.9573|0.9765||||||||||0.8951|0.7306|0.9803|0.9333|0.9101|0.9998|0.9755|0.8861|0.9586|0.9057|0.9681|0.9998|gnomADg_EAS|benign||1||||||||||,A|intron_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding||2/2|ENST00000624652.1:c.-21-129G>A|||||||rs2465124||1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||0.8998|0.7073|0.9308|0.999|0.9573|0.9765||||||||||0.8951|0.7306|0.9803|0.9333|0.9101|0.9998|0.9755|0.8861|0.9586|0.9057|0.9681|0.9998|gnomADg_EAS|benign||1||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,A|intron_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding||2/2|ENST00000624697.4:c.-21-129G>A|||||||rs2465124||1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||0.8998|0.7073|0.9308|0.999|0.9573|0.9765||||||||||0.8951|0.7306|0.9803|0.9333|0.9101|0.9998|0.9755|0.8861|0.9586|0.9057|0.9681|0.9998|gnomADg_EAS|benign||1||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,A|intron_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000649529|protein_coding||1/1|ENST00000649529.1:c.4-129G>A|||||||rs2465124||1||SNV|HGNC|HGNC:4053|YES|NM_005101.4|||P1|CCDS6.1|ENSP00000496832|P05161.233||UPI0000048D70||1||||||0.8998|0.7073|0.9308|0.999|0.9573|0.9765||||||||||0.8951|0.7306|0.9803|0.9333|0.9101|0.9998|0.9755|0.8861|0.9586|0.9057|0.9681|0.9998|gnomADg_EAS|benign||1||||||||MGWDLTVKMLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164809|promoter||||||||||rs2465124||||SNV||||||||||||||||||||0.8998|0.7073|0.9308|0.999|0.9573|0.9765||||||||||0.8951|0.7306|0.9803|0.9333|0.9101|0.9998|0.9755|0.8861|0.9586|0.9057|0.9681|0.9998|gnomADg_EAS|benign||1|||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,10:0.88:10:0,1:0,4:0,6:0,0,4,6 -chr1 1013855 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=5;POPAF=7.3;TLOD=3.48;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000224969|Transcript|ENST00000458555|lncRNA||||||||||rs2465124|662|-1||SNV|||YES|||2||||||||||||||0.8998|0.7073|0.9308|0.999|0.9573|0.9765||||||||||0.8951|0.7306|0.9803|0.9333|0.9101|0.9998|0.9755|0.8861|0.9586|0.9057|0.9681|0.9998|gnomADg_EAS|benign||1||||||||||,A|intron_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding||2/2|ENST00000624652.1:c.-21-129G>A|||||||rs2465124||1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||0.8998|0.7073|0.9308|0.999|0.9573|0.9765||||||||||0.8951|0.7306|0.9803|0.9333|0.9101|0.9998|0.9755|0.8861|0.9586|0.9057|0.9681|0.9998|gnomADg_EAS|benign||1||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,A|intron_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding||2/2|ENST00000624697.4:c.-21-129G>A|||||||rs2465124||1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||0.8998|0.7073|0.9308|0.999|0.9573|0.9765||||||||||0.8951|0.7306|0.9803|0.9333|0.9101|0.9998|0.9755|0.8861|0.9586|0.9057|0.9681|0.9998|gnomADg_EAS|benign||1||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,A|intron_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000649529|protein_coding||1/1|ENST00000649529.1:c.4-129G>A|||||||rs2465124||1||SNV|HGNC|HGNC:4053|YES|NM_005101.4|||P1|CCDS6.1|ENSP00000496832|P05161.233||UPI0000048D70||1||||||0.8998|0.7073|0.9308|0.999|0.9573|0.9765||||||||||0.8951|0.7306|0.9803|0.9333|0.9101|0.9998|0.9755|0.8861|0.9586|0.9057|0.9681|0.9998|gnomADg_EAS|benign||1||||||||MGWDLTVKMLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164809|promoter||||||||||rs2465124||||SNV||||||||||||||||||||0.8998|0.7073|0.9308|0.999|0.9573|0.9765||||||||||0.8951|0.7306|0.9803|0.9333|0.9101|0.9998|0.9755|0.8861|0.9586|0.9057|0.9681|0.9998|gnomADg_EAS|benign||1|||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 1014228 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=122%2C149|32%2C42;DP=366;ECNT=2;GERMQ=93;MBQ=34,32;MFRL=0,0;MMQ=60,60;MPOS=72;POPAF=7.3;TLOD=216.65;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000224969|Transcript|ENST00000458555|lncRNA||||||||||rs1921&COSV65106391|1035|-1||SNV|||YES|||2||||||||||||||0.3389|0.4387|0.2709|0.1845|0.3926|0.3558|0.3593|0.4146|0.2452|0.3142|0.1998|0.4674|0.4004|0.3684|0.3404|0.3838|0.4058|0.3893|0.2813|0.3095|0.2027|0.4815|0.328|0.3989|0.3676|0.3489|0.4815|gnomADg_FIN|not_provided&benign|0&1|1&1|24033266&26563749&27626177&32936528&36168886|||||||||,A|missense_variant|MODERATE|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding|3/3||ENST00000624652.1:c.224G>A|ENSP00000485313.1:p.Ser75Asn|450|224|75|S/N|aGc/aAc|rs1921&COSV65106391||1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1|tolerated(0.31)|benign(0.005)||||0.3389|0.4387|0.2709|0.1845|0.3926|0.3558|0.3593|0.4146|0.2452|0.3142|0.1998|0.4674|0.4004|0.3684|0.3404|0.3838|0.4058|0.3893|0.2813|0.3095|0.2027|0.4815|0.328|0.3989|0.3676|0.3489|0.4815|gnomADg_FIN|not_provided&benign|0&1|1&1|24033266&26563749&27626177&32936528&36168886|||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,A|missense_variant|MODERATE|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding|3/3||ENST00000624697.4:c.224G>A|ENSP00000485643.1:p.Ser75Asn|475|224|75|S/N|aGc/aAc|rs1921&COSV65106391||1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1|tolerated(0.31)|benign(0.005)||||0.3389|0.4387|0.2709|0.1845|0.3926|0.3558|0.3593|0.4146|0.2452|0.3142|0.1998|0.4674|0.4004|0.3684|0.3404|0.3838|0.4058|0.3893|0.2813|0.3095|0.2027|0.4815|0.328|0.3989|0.3676|0.3489|0.4815|gnomADg_FIN|not_provided&benign|0&1|1&1|24033266&26563749&27626177&32936528&36168886|||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,A|missense_variant|MODERATE|ISG15|ENSG00000187608|Transcript|ENST00000649529|protein_coding|2/2||ENST00000649529.1:c.248G>A|ENSP00000496832.1:p.Ser83Asn|325|248|83|S/N|aGc/aAc|rs1921&COSV65106391||1||SNV|HGNC|HGNC:4053|YES|NM_005101.4|||P1|CCDS6.1|ENSP00000496832|P05161.233||UPI0000048D70||1|tolerated(0.32)|benign(0.005)|PDB-ENSP_mappings:1z2m.A&PDB-ENSP_mappings:2hj8.A&PDB-ENSP_mappings:3phx.B&PDB-ENSP_mappings:3pse.B&PDB-ENSP_mappings:3r66.C&PDB-ENSP_mappings:3r66.D&PDB-ENSP_mappings:3rt3.B&PDB-ENSP_mappings:3sdl.C&PDB-ENSP_mappings:3sdl.D&PDB-ENSP_mappings:5tl6.A&PDB-ENSP_mappings:5tl6.C&PDB-ENSP_mappings:5w8t.B&PDB-ENSP_mappings:5w8t.D&PDB-ENSP_mappings:5w8u.B&PDB-ENSP_mappings:5w8u.D&PDB-ENSP_mappings:6bi8.C&PDB-ENSP_mappings:6bi8.D&PDB-ENSP_mappings:6ffa.B&PDB-ENSP_mappings:6xa9.B&PDB-ENSP_mappings:6xa9.D&PDB-ENSP_mappings:6xa9.F&PDB-ENSP_mappings:7rbs.B&PDB-ENSP_mappings:7rbs.D&PDB-ENSP_mappings:7rbs.F&PDB-ENSP_mappings:7rbs.H&PDB-ENSP_mappings:7rbs.J&PDB-ENSP_mappings:7s6p.A&PDB-ENSP_mappings:7s6p.B&PDB-ENSP_mappings:7s6p.C&PDB-ENSP_mappings:7s6p.D&PDB-ENSP_mappings:7s6p.E&PDB-ENSP_mappings:7s6p.F|||0.3389|0.4387|0.2709|0.1845|0.3926|0.3558|0.3593|0.4146|0.2452|0.3142|0.1998|0.4674|0.4004|0.3684|0.3404|0.3838|0.4058|0.3893|0.2813|0.3095|0.2027|0.4815|0.328|0.3989|0.3676|0.3489|0.4815|gnomADg_FIN|not_provided&benign|0&1|1&1|24033266&26563749&27626177&32936528&36168886|||||||MGWDLTVKMLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164809|promoter||||||||||rs1921&COSV65106391||||SNV||||||||||||||||||||0.3389|0.4387|0.2709|0.1845|0.3926|0.3558|0.3593|0.4146|0.2452|0.3142|0.1998|0.4674|0.4004|0.3684|0.3404|0.3838|0.4058|0.3893|0.2813|0.3095|0.2027|0.4815|0.328|0.3989|0.3676|0.3489|0.4815|gnomADg_FIN|not_provided&benign|0&1|1&1|24033266&26563749&27626177&32936528&36168886||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:271,74:0.243:345:30,16:122,32:161,51:122,149,32,42 -chr1 1014228 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=115%2C134|45%2C53;DP=353;ECNT=2;GERMQ=93;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=70;POPAF=7.3;TLOD=306.97;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000224969|Transcript|ENST00000458555|lncRNA||||||||||rs1921&COSV65106391|1035|-1||SNV|||YES|||2||||||||||||||0.3389|0.4387|0.2709|0.1845|0.3926|0.3558|0.3593|0.4146|0.2452|0.3142|0.1998|0.4674|0.4004|0.3684|0.3404|0.3838|0.4058|0.3893|0.2813|0.3095|0.2027|0.4815|0.328|0.3989|0.3676|0.3489|0.4815|gnomADg_FIN|not_provided&benign|0&1|1&1|24033266&26563749&27626177&32936528&36168886|||||||||,A|missense_variant|MODERATE|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding|3/3||ENST00000624652.1:c.224G>A|ENSP00000485313.1:p.Ser75Asn|450|224|75|S/N|aGc/aAc|rs1921&COSV65106391||1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1|tolerated(0.31)|benign(0.005)||||0.3389|0.4387|0.2709|0.1845|0.3926|0.3558|0.3593|0.4146|0.2452|0.3142|0.1998|0.4674|0.4004|0.3684|0.3404|0.3838|0.4058|0.3893|0.2813|0.3095|0.2027|0.4815|0.328|0.3989|0.3676|0.3489|0.4815|gnomADg_FIN|not_provided&benign|0&1|1&1|24033266&26563749&27626177&32936528&36168886|||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,A|missense_variant|MODERATE|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding|3/3||ENST00000624697.4:c.224G>A|ENSP00000485643.1:p.Ser75Asn|475|224|75|S/N|aGc/aAc|rs1921&COSV65106391||1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1|tolerated(0.31)|benign(0.005)||||0.3389|0.4387|0.2709|0.1845|0.3926|0.3558|0.3593|0.4146|0.2452|0.3142|0.1998|0.4674|0.4004|0.3684|0.3404|0.3838|0.4058|0.3893|0.2813|0.3095|0.2027|0.4815|0.328|0.3989|0.3676|0.3489|0.4815|gnomADg_FIN|not_provided&benign|0&1|1&1|24033266&26563749&27626177&32936528&36168886|||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,A|missense_variant|MODERATE|ISG15|ENSG00000187608|Transcript|ENST00000649529|protein_coding|2/2||ENST00000649529.1:c.248G>A|ENSP00000496832.1:p.Ser83Asn|325|248|83|S/N|aGc/aAc|rs1921&COSV65106391||1||SNV|HGNC|HGNC:4053|YES|NM_005101.4|||P1|CCDS6.1|ENSP00000496832|P05161.233||UPI0000048D70||1|tolerated(0.32)|benign(0.005)|PDB-ENSP_mappings:1z2m.A&PDB-ENSP_mappings:2hj8.A&PDB-ENSP_mappings:3phx.B&PDB-ENSP_mappings:3pse.B&PDB-ENSP_mappings:3r66.C&PDB-ENSP_mappings:3r66.D&PDB-ENSP_mappings:3rt3.B&PDB-ENSP_mappings:3sdl.C&PDB-ENSP_mappings:3sdl.D&PDB-ENSP_mappings:5tl6.A&PDB-ENSP_mappings:5tl6.C&PDB-ENSP_mappings:5w8t.B&PDB-ENSP_mappings:5w8t.D&PDB-ENSP_mappings:5w8u.B&PDB-ENSP_mappings:5w8u.D&PDB-ENSP_mappings:6bi8.C&PDB-ENSP_mappings:6bi8.D&PDB-ENSP_mappings:6ffa.B&PDB-ENSP_mappings:6xa9.B&PDB-ENSP_mappings:6xa9.D&PDB-ENSP_mappings:6xa9.F&PDB-ENSP_mappings:7rbs.B&PDB-ENSP_mappings:7rbs.D&PDB-ENSP_mappings:7rbs.F&PDB-ENSP_mappings:7rbs.H&PDB-ENSP_mappings:7rbs.J&PDB-ENSP_mappings:7s6p.A&PDB-ENSP_mappings:7s6p.B&PDB-ENSP_mappings:7s6p.C&PDB-ENSP_mappings:7s6p.D&PDB-ENSP_mappings:7s6p.E&PDB-ENSP_mappings:7s6p.F|||0.3389|0.4387|0.2709|0.1845|0.3926|0.3558|0.3593|0.4146|0.2452|0.3142|0.1998|0.4674|0.4004|0.3684|0.3404|0.3838|0.4058|0.3893|0.2813|0.3095|0.2027|0.4815|0.328|0.3989|0.3676|0.3489|0.4815|gnomADg_FIN|not_provided&benign|0&1|1&1|24033266&26563749&27626177&32936528&36168886|||||||MGWDLTVKMLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164809|promoter||||||||||rs1921&COSV65106391||||SNV||||||||||||||||||||0.3389|0.4387|0.2709|0.1845|0.3926|0.3558|0.3593|0.4146|0.2452|0.3142|0.1998|0.4674|0.4004|0.3684|0.3404|0.3838|0.4058|0.3893|0.2813|0.3095|0.2027|0.4815|0.328|0.3989|0.3676|0.3489|0.4815|gnomADg_FIN|not_provided&benign|0&1|1&1|24033266&26563749&27626177&32936528&36168886||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:249,98:0.279:347:26,11:114,44:149,57:115,134,45,53 -chr1 1014274 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|145%2C150;DP=303;ECNT=2;GERMQ=93;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=94;POPAF=7.3;TLOD=1139.03;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000224969|Transcript|ENST00000458555|lncRNA||||||||||rs8997&COSV65106735|1081|-1||SNV|||YES|||2||||||||||||||0.8257|0.5083|0.9179|0.9266|0.9453|0.9622|0.9188|0.561|0.9466|0.8982|0.9262|0.9498|0.9478|0.9208|0.9495|0.8398|0.5693|0.9737|0.9146|0.9055|0.9274|0.9551|0.8703|0.9489|0.8628|0.9518|0.9737|gnomADg_AMI|benign|0&1|1&1||||||||||,G|synonymous_variant|LOW|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding|3/3||ENST00000624652.1:c.270A>G|ENSP00000485313.1:p.Val90%3D|496|270|90|V|gtA/gtG|rs8997&COSV65106735||1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||0.8257|0.5083|0.9179|0.9266|0.9453|0.9622|0.9188|0.561|0.9466|0.8982|0.9262|0.9498|0.9478|0.9208|0.9495|0.8398|0.5693|0.9737|0.9146|0.9055|0.9274|0.9551|0.8703|0.9489|0.8628|0.9518|0.9737|gnomADg_AMI|benign|0&1|1&1||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,G|synonymous_variant|LOW|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding|3/3||ENST00000624697.4:c.270A>G|ENSP00000485643.1:p.Val90%3D|521|270|90|V|gtA/gtG|rs8997&COSV65106735||1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||0.8257|0.5083|0.9179|0.9266|0.9453|0.9622|0.9188|0.561|0.9466|0.8982|0.9262|0.9498|0.9478|0.9208|0.9495|0.8398|0.5693|0.9737|0.9146|0.9055|0.9274|0.9551|0.8703|0.9489|0.8628|0.9518|0.9737|gnomADg_AMI|benign|0&1|1&1||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,G|synonymous_variant|LOW|ISG15|ENSG00000187608|Transcript|ENST00000649529|protein_coding|2/2||ENST00000649529.1:c.294A>G|ENSP00000496832.1:p.Val98%3D|371|294|98|V|gtA/gtG|rs8997&COSV65106735||1||SNV|HGNC|HGNC:4053|YES|NM_005101.4|||P1|CCDS6.1|ENSP00000496832|P05161.233||UPI0000048D70||1|||PDB-ENSP_mappings:1z2m.A&PDB-ENSP_mappings:2hj8.A&PDB-ENSP_mappings:3phx.B&PDB-ENSP_mappings:3pse.B&PDB-ENSP_mappings:3r66.C&PDB-ENSP_mappings:3r66.D&PDB-ENSP_mappings:3rt3.B&PDB-ENSP_mappings:3sdl.C&PDB-ENSP_mappings:3sdl.D&PDB-ENSP_mappings:5tl6.A&PDB-ENSP_mappings:5tl6.C&PDB-ENSP_mappings:5w8t.B&PDB-ENSP_mappings:5w8t.D&PDB-ENSP_mappings:5w8u.B&PDB-ENSP_mappings:5w8u.D&PDB-ENSP_mappings:6bi8.C&PDB-ENSP_mappings:6bi8.D&PDB-ENSP_mappings:6ffa.B&PDB-ENSP_mappings:6xa9.B&PDB-ENSP_mappings:6xa9.D&PDB-ENSP_mappings:6xa9.F&PDB-ENSP_mappings:7rbs.B&PDB-ENSP_mappings:7rbs.D&PDB-ENSP_mappings:7rbs.F&PDB-ENSP_mappings:7rbs.H&PDB-ENSP_mappings:7rbs.J&PDB-ENSP_mappings:7s6p.A&PDB-ENSP_mappings:7s6p.B&PDB-ENSP_mappings:7s6p.C&PDB-ENSP_mappings:7s6p.D&PDB-ENSP_mappings:7s6p.E&PDB-ENSP_mappings:7s6p.F|||0.8257|0.5083|0.9179|0.9266|0.9453|0.9622|0.9188|0.561|0.9466|0.8982|0.9262|0.9498|0.9478|0.9208|0.9495|0.8398|0.5693|0.9737|0.9146|0.9055|0.9274|0.9551|0.8703|0.9489|0.8628|0.9518|0.9737|gnomADg_AMI|benign|0&1|1&1||||||||MGWDLTVKMLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164809|promoter||||||||||rs8997&COSV65106735||||SNV||||||||||||||||||||0.8257|0.5083|0.9179|0.9266|0.9453|0.9622|0.9188|0.561|0.9466|0.8982|0.9262|0.9498|0.9478|0.9208|0.9495|0.8398|0.5693|0.9737|0.9146|0.9055|0.9274|0.9551|0.8703|0.9489|0.8628|0.9518|0.9737|gnomADg_AMI|benign|0&1|1&1|||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,295:0.995:295:0,11:0,143:0,180:0,0,145,150 -chr1 1014274 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|148%2C154;DP=308;ECNT=2;GERMQ=93;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=91;POPAF=7.3;TLOD=1164.53;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000224969|Transcript|ENST00000458555|lncRNA||||||||||rs8997&COSV65106735|1081|-1||SNV|||YES|||2||||||||||||||0.8257|0.5083|0.9179|0.9266|0.9453|0.9622|0.9188|0.561|0.9466|0.8982|0.9262|0.9498|0.9478|0.9208|0.9495|0.8398|0.5693|0.9737|0.9146|0.9055|0.9274|0.9551|0.8703|0.9489|0.8628|0.9518|0.9737|gnomADg_AMI|benign|0&1|1&1||||||||||,G|synonymous_variant|LOW|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding|3/3||ENST00000624652.1:c.270A>G|ENSP00000485313.1:p.Val90%3D|496|270|90|V|gtA/gtG|rs8997&COSV65106735||1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||0.8257|0.5083|0.9179|0.9266|0.9453|0.9622|0.9188|0.561|0.9466|0.8982|0.9262|0.9498|0.9478|0.9208|0.9495|0.8398|0.5693|0.9737|0.9146|0.9055|0.9274|0.9551|0.8703|0.9489|0.8628|0.9518|0.9737|gnomADg_AMI|benign|0&1|1&1||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,G|synonymous_variant|LOW|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding|3/3||ENST00000624697.4:c.270A>G|ENSP00000485643.1:p.Val90%3D|521|270|90|V|gtA/gtG|rs8997&COSV65106735||1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||0.8257|0.5083|0.9179|0.9266|0.9453|0.9622|0.9188|0.561|0.9466|0.8982|0.9262|0.9498|0.9478|0.9208|0.9495|0.8398|0.5693|0.9737|0.9146|0.9055|0.9274|0.9551|0.8703|0.9489|0.8628|0.9518|0.9737|gnomADg_AMI|benign|0&1|1&1||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,G|synonymous_variant|LOW|ISG15|ENSG00000187608|Transcript|ENST00000649529|protein_coding|2/2||ENST00000649529.1:c.294A>G|ENSP00000496832.1:p.Val98%3D|371|294|98|V|gtA/gtG|rs8997&COSV65106735||1||SNV|HGNC|HGNC:4053|YES|NM_005101.4|||P1|CCDS6.1|ENSP00000496832|P05161.233||UPI0000048D70||1|||PDB-ENSP_mappings:1z2m.A&PDB-ENSP_mappings:2hj8.A&PDB-ENSP_mappings:3phx.B&PDB-ENSP_mappings:3pse.B&PDB-ENSP_mappings:3r66.C&PDB-ENSP_mappings:3r66.D&PDB-ENSP_mappings:3rt3.B&PDB-ENSP_mappings:3sdl.C&PDB-ENSP_mappings:3sdl.D&PDB-ENSP_mappings:5tl6.A&PDB-ENSP_mappings:5tl6.C&PDB-ENSP_mappings:5w8t.B&PDB-ENSP_mappings:5w8t.D&PDB-ENSP_mappings:5w8u.B&PDB-ENSP_mappings:5w8u.D&PDB-ENSP_mappings:6bi8.C&PDB-ENSP_mappings:6bi8.D&PDB-ENSP_mappings:6ffa.B&PDB-ENSP_mappings:6xa9.B&PDB-ENSP_mappings:6xa9.D&PDB-ENSP_mappings:6xa9.F&PDB-ENSP_mappings:7rbs.B&PDB-ENSP_mappings:7rbs.D&PDB-ENSP_mappings:7rbs.F&PDB-ENSP_mappings:7rbs.H&PDB-ENSP_mappings:7rbs.J&PDB-ENSP_mappings:7s6p.A&PDB-ENSP_mappings:7s6p.B&PDB-ENSP_mappings:7s6p.C&PDB-ENSP_mappings:7s6p.D&PDB-ENSP_mappings:7s6p.E&PDB-ENSP_mappings:7s6p.F|||0.8257|0.5083|0.9179|0.9266|0.9453|0.9622|0.9188|0.561|0.9466|0.8982|0.9262|0.9498|0.9478|0.9208|0.9495|0.8398|0.5693|0.9737|0.9146|0.9055|0.9274|0.9551|0.8703|0.9489|0.8628|0.9518|0.9737|gnomADg_AMI|benign|0&1|1&1||||||||MGWDLTVKMLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164809|promoter||||||||||rs8997&COSV65106735||||SNV||||||||||||||||||||0.8257|0.5083|0.9179|0.9266|0.9453|0.9622|0.9188|0.561|0.9466|0.8982|0.9262|0.9498|0.9478|0.9208|0.9495|0.8398|0.5693|0.9737|0.9146|0.9055|0.9274|0.9551|0.8703|0.9489|0.8628|0.9518|0.9737|gnomADg_AMI|benign|0&1|1&1|||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,302:0.995:302:0,10:0,145:0,180:0,0,148,154 -chr1 1014545 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C1;DP=4;ECNT=1;GERMQ=52;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=111;POPAF=7.3;TLOD=13.91;SRC=custom;GRP=custom;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000224969|Transcript|ENST00000458555|lncRNA||||||||||rs2799070|1352|-1||SNV|||YES|||2||||||||||||||0.8728|0.6286|0.9265|0.9762|0.9563|0.9724||||||||||0.8751|0.6715|0.9802|0.928|0.8998|0.971|0.9565|0.8703|0.9575|0.8929|0.9625|0.9802|gnomADg_AMI|||||||||||||,T|downstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding||||||||||rs2799070|110|1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||0.8728|0.6286|0.9265|0.9762|0.9563|0.9724||||||||||0.8751|0.6715|0.9802|0.928|0.8998|0.971|0.9565|0.8703|0.9575|0.8929|0.9625|0.9802|gnomADg_AMI|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,T|downstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding||||||||||rs2799070|5|1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||0.8728|0.6286|0.9265|0.9762|0.9563|0.9724||||||||||0.8751|0.6715|0.9802|0.928|0.8998|0.971|0.9565|0.8703|0.9575|0.8929|0.9625|0.9802|gnomADg_AMI|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,T|downstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000649529|protein_coding||||||||||rs2799070|5|1||SNV|HGNC|HGNC:4053|YES|NM_005101.4|||P1|CCDS6.1|ENSP00000496832|P05161.233||UPI0000048D70||1||||||0.8728|0.6286|0.9265|0.9762|0.9563|0.9724||||||||||0.8751|0.6715|0.9802|0.928|0.8998|0.971|0.9565|0.8703|0.9575|0.8929|0.9625|0.9802|gnomADg_AMI|||||||||||MGWDLTVKMLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164809|promoter||||||||||rs2799070||||SNV||||||||||||||||||||0.8728|0.6286|0.9265|0.9762|0.9563|0.9724||||||||||0.8751|0.6715|0.9802|0.928|0.8998|0.971|0.9565|0.8703|0.9575|0.8929|0.9625|0.9802|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.8:4:0,0:0,3:0,3:0,0,3,1 -chr1 1014545 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=118;POPAF=7.3;TLOD=3.48;SRC=custom;GRP=custom;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000224969|Transcript|ENST00000458555|lncRNA||||||||||rs2799070|1352|-1||SNV|||YES|||2||||||||||||||0.8728|0.6286|0.9265|0.9762|0.9563|0.9724||||||||||0.8751|0.6715|0.9802|0.928|0.8998|0.971|0.9565|0.8703|0.9575|0.8929|0.9625|0.9802|gnomADg_AMI|||||||||||||,T|downstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding||||||||||rs2799070|110|1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||0.8728|0.6286|0.9265|0.9762|0.9563|0.9724||||||||||0.8751|0.6715|0.9802|0.928|0.8998|0.971|0.9565|0.8703|0.9575|0.8929|0.9625|0.9802|gnomADg_AMI|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,T|downstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding||||||||||rs2799070|5|1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||0.8728|0.6286|0.9265|0.9762|0.9563|0.9724||||||||||0.8751|0.6715|0.9802|0.928|0.8998|0.971|0.9565|0.8703|0.9575|0.8929|0.9625|0.9802|gnomADg_AMI|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,T|downstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000649529|protein_coding||||||||||rs2799070|5|1||SNV|HGNC|HGNC:4053|YES|NM_005101.4|||P1|CCDS6.1|ENSP00000496832|P05161.233||UPI0000048D70||1||||||0.8728|0.6286|0.9265|0.9762|0.9563|0.9724||||||||||0.8751|0.6715|0.9802|0.928|0.8998|0.971|0.9565|0.8703|0.9575|0.8929|0.9625|0.9802|gnomADg_AMI|||||||||||MGWDLTVKMLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164809|promoter||||||||||rs2799070||||SNV||||||||||||||||||||0.8728|0.6286|0.9265|0.9762|0.9563|0.9724||||||||||0.8751|0.6715|0.9802|0.928|0.8998|0.971|0.9565|0.8703|0.9575|0.8929|0.9625|0.9802|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 1016858 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C1;DP=4;ECNT=2;GERMQ=37;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=20;POPAF=7.3;TLOD=8.22;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding|||||||||||3262|1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||||||||||||||||||||||||||||||||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|upstream_gene_variant|MODIFIER||ENSG00000224969|Transcript|ENST00000458555|lncRNA|||||||||||3665|-1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding|||||||||||3265|1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||||||||||||||||||||||||||||||||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|downstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding|||||||||||2423|1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||||||||||||||||||||||||||||||||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,G|downstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding|||||||||||2318|1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||||||||||||||||||||||||||||||||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,G|downstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000649529|protein_coding|||||||||||2318|1||SNV|HGNC|HGNC:4053|YES|NM_005101.4|||P1|CCDS6.1|ENSP00000496832|P05161.233||UPI0000048D70||1||||||||||||||||||||||||||||||||||||||||||||MGWDLTVKMLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS|| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:2,2:0.5:4:0,0:1,1:1,1:0|1:1016858_A_G:1016858:1,1,1,1 -chr1 1016876 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C1;DP=4;ECNT=2;GERMQ=37;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=38;POPAF=7.3;TLOD=8.22;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||||||||||rs1343528714|3244|1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||||||||||||||||||||||||||||||||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|upstream_gene_variant|MODIFIER||ENSG00000224969|Transcript|ENST00000458555|lncRNA||||||||||rs1343528714|3683|-1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||||||||||rs1343528714|3247|1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||||||||||||||||||||||||||||||||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|downstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding||||||||||rs1343528714|2441|1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||||||||||||||||||||||||||||||||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,G|downstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding||||||||||rs1343528714|2336|1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||||||||||||||||||||||||||||||||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,G|downstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000649529|protein_coding||||||||||rs1343528714|2336|1||SNV|HGNC|HGNC:4053|YES|NM_005101.4|||P1|CCDS6.1|ENSP00000496832|P05161.233||UPI0000048D70||1||||||||||||||||||||||||||||||||||||||||||||MGWDLTVKMLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS|| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:2,2:0.5:4:0,0:1,1:1,1:0|1:1016858_A_G:1016858:1,1,1,1 -chr1 1016965 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C1;DP=4;ECNT=1;GERMQ=37;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=6;POPAF=7.3;TLOD=6.68;SRC=custom;GRP=custom;CSQ=T|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||||||||||rs114885312|3155|1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.0160|0.003|0.0101|0.004|0.0408|0.0245||||||||||0.02693|0.008601|0.07363|0.01765|0.03277|0.001349|0.03753|0.04808|0.03966|0.02019|0.02689|0.07363|gnomADg_AMI|||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|upstream_gene_variant|MODIFIER||ENSG00000224969|Transcript|ENST00000458555|lncRNA||||||||||rs114885312|3772|-1||SNV|||YES|||2||||||||||||||0.0160|0.003|0.0101|0.004|0.0408|0.0245||||||||||0.02693|0.008601|0.07363|0.01765|0.03277|0.001349|0.03753|0.04808|0.03966|0.02019|0.02689|0.07363|gnomADg_AMI|||||||||||||,T|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||||||||||rs114885312|3158|1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.0160|0.003|0.0101|0.004|0.0408|0.0245||||||||||0.02693|0.008601|0.07363|0.01765|0.03277|0.001349|0.03753|0.04808|0.03966|0.02019|0.02689|0.07363|gnomADg_AMI|||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|downstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding||||||||||rs114885312|2530|1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||0.0160|0.003|0.0101|0.004|0.0408|0.0245||||||||||0.02693|0.008601|0.07363|0.01765|0.03277|0.001349|0.03753|0.04808|0.03966|0.02019|0.02689|0.07363|gnomADg_AMI|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,T|downstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding||||||||||rs114885312|2425|1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||0.0160|0.003|0.0101|0.004|0.0408|0.0245||||||||||0.02693|0.008601|0.07363|0.01765|0.03277|0.001349|0.03753|0.04808|0.03966|0.02019|0.02689|0.07363|gnomADg_AMI|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,T|downstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000649529|protein_coding||||||||||rs114885312|2425|1||SNV|HGNC|HGNC:4053|YES|NM_005101.4|||P1|CCDS6.1|ENSP00000496832|P05161.233||UPI0000048D70||1||||||0.0160|0.003|0.0101|0.004|0.0408|0.0245||||||||||0.02693|0.008601|0.07363|0.01765|0.03277|0.001349|0.03753|0.04808|0.03966|0.02019|0.02689|0.07363|gnomADg_AMI|||||||||||MGWDLTVKMLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.5:4:0,0:1,1:1,1:1,1,1,1 -chr1 1019636 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=50;POPAF=7.3;TLOD=7.45;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||||||||||rs34927559|484|1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.8494|0.6203|0.9078|0.9315|0.9195|0.9611||||||||||0.8393|0.6579|0.9791|0.8994|0.8852|0.9217|0.9306|0.8397|0.9049|0.8571|0.9494|0.9791|gnomADg_AMI|||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||||||||||rs34927559|487|1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.8494|0.6203|0.9078|0.9315|0.9195|0.9611||||||||||0.8393|0.6579|0.9791|0.8994|0.8852|0.9217|0.9306|0.8397|0.9049|0.8571|0.9494|0.9791|gnomADg_AMI|||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000123|promoter||||||||||rs34927559||||SNV||||||||||||||||||||0.8494|0.6203|0.9078|0.9315|0.9195|0.9611||||||||||0.8393|0.6579|0.9791|0.8994|0.8852|0.9217|0.9306|0.8397|0.9049|0.8571|0.9494|0.9791|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1019636 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C3;DP=6;ECNT=2;GERMQ=58;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=67;POPAF=7.3;TLOD=22.66;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||||||||||rs34927559|484|1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.8494|0.6203|0.9078|0.9315|0.9195|0.9611||||||||||0.8393|0.6579|0.9791|0.8994|0.8852|0.9217|0.9306|0.8397|0.9049|0.8571|0.9494|0.9791|gnomADg_AMI|||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||||||||||rs34927559|487|1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.8494|0.6203|0.9078|0.9315|0.9195|0.9611||||||||||0.8393|0.6579|0.9791|0.8994|0.8852|0.9217|0.9306|0.8397|0.9049|0.8571|0.9494|0.9791|gnomADg_AMI|||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000123|promoter||||||||||rs34927559||||SNV||||||||||||||||||||0.8494|0.6203|0.9078|0.9315|0.9195|0.9611||||||||||0.8393|0.6579|0.9791|0.8994|0.8852|0.9217|0.9306|0.8397|0.9049|0.8571|0.9494|0.9791|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.8:6:0,0:0,3:0,3:0,0,3,3 -chr1 1019689 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C1;DP=4;ECNT=2;GERMQ=37;MBQ=34,34;MFRL=0,0;MMQ=60,60;MPOS=126;POPAF=7.3;TLOD=6.98;SRC=custom;GRP=custom;CSQ=C|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding|||||||||||431|1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||||||||||||||||||||||||||||||||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding|||||||||||434|1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||||||||||||||||||||||||||||||||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000123|promoter||||||||||||||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00098123615|||||||||||||-1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||ENSPFM0219|8|Y|-0.056|GCM1::ELF1&GCM1::ELK1&GCM2::ELK1&GCM1::ETV1&GCM1::ETV4|||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.5:4:0,0:1,1:1,1:1,1,1,1 -chr1 1019833 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=115;POPAF=7.3;TLOD=7.48;SRC=custom;GRP=custom;CSQ=C|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||||||||||rs78276138|287|1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|0.9998|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|benign||1||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||||||||||rs78276138|290|1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|0.9998|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|benign||1||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000123|promoter||||||||||rs78276138||||SNV||||||||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|0.9998|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|benign||1|||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.75:2:0,1:0,0:0,2:0,0,0,2 -chr1 1019833 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=136;POPAF=7.3;TLOD=7.12;SRC=custom;GRP=custom;CSQ=C|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||||||||||rs78276138|287|1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|0.9998|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|benign||1||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||||||||||rs78276138|290|1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|0.9998|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|benign||1||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000123|promoter||||||||||rs78276138||||SNV||||||||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|0.9998|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|benign||1|||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1020217 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|19%2C17;DP=36;ECNT=1;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=42;POPAF=7.3;TLOD=131.67;SRC=custom;GRP=custom;CSQ=T|synonymous_variant|LOW|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding|1/36||ENST00000379370.7:c.45G>T|ENSP00000368678.2:p.Pro15%3D|98|45|15|P|ccG/ccT|rs115173026||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.2825|0.3132|0.2334|0.1667|0.3489|0.3272|0.3428|0.3172|0.2569|0.3322|0.2351|0.4483|0.3665|0.3535|0.3367|0.3072|0.2628|0.3918|0.2337|0.282|0.1771|0.4346|0.2962|0.3409|0.2964|0.3192|0.4483|gnomADe_FIN|benign||1|25741868|||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|5_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding|1/39||ENST00000620552.4:c.-370G>T||95|||||rs115173026||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.2825|0.3132|0.2334|0.1667|0.3489|0.3272|0.3428|0.3172|0.2569|0.3322|0.2351|0.4483|0.3665|0.3535|0.3367|0.3072|0.2628|0.3918|0.2337|0.282|0.1771|0.4346|0.2962|0.3409|0.2964|0.3192|0.4483|gnomADe_FIN|benign||1|25741868|||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000123|promoter||||||||||rs115173026||||SNV||||||||||||||||||||0.2825|0.3132|0.2334|0.1667|0.3489|0.3272|0.3428|0.3172|0.2569|0.3322|0.2351|0.4483|0.3665|0.3535|0.3367|0.3072|0.2628|0.3918|0.2337|0.282|0.1771|0.4346|0.2962|0.3409|0.2964|0.3192|0.4483|gnomADe_FIN|benign||1|25741868||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,36:0.952:36:0,0:0,19:0,19:0,0,19,17 -chr1 1020217 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|9%2C3;DP=12;ECNT=1;GERMQ=76;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=44;POPAF=7.3;TLOD=40.82;SRC=custom;GRP=custom;CSQ=T|synonymous_variant|LOW|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding|1/36||ENST00000379370.7:c.45G>T|ENSP00000368678.2:p.Pro15%3D|98|45|15|P|ccG/ccT|rs115173026||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.2825|0.3132|0.2334|0.1667|0.3489|0.3272|0.3428|0.3172|0.2569|0.3322|0.2351|0.4483|0.3665|0.3535|0.3367|0.3072|0.2628|0.3918|0.2337|0.282|0.1771|0.4346|0.2962|0.3409|0.2964|0.3192|0.4483|gnomADe_FIN|benign||1|25741868|||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|5_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding|1/39||ENST00000620552.4:c.-370G>T||95|||||rs115173026||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.2825|0.3132|0.2334|0.1667|0.3489|0.3272|0.3428|0.3172|0.2569|0.3322|0.2351|0.4483|0.3665|0.3535|0.3367|0.3072|0.2628|0.3918|0.2337|0.282|0.1771|0.4346|0.2962|0.3409|0.2964|0.3192|0.4483|gnomADe_FIN|benign||1|25741868|||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000123|promoter||||||||||rs115173026||||SNV||||||||||||||||||||0.2825|0.3132|0.2334|0.1667|0.3489|0.3272|0.3428|0.3172|0.2569|0.3322|0.2351|0.4483|0.3665|0.3535|0.3367|0.3072|0.2628|0.3918|0.2337|0.282|0.1771|0.4346|0.2962|0.3409|0.2964|0.3192|0.4483|gnomADe_FIN|benign||1|25741868||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,12:0.909:12:0,0:0,9:0,9:0,0,9,3 -chr1 1020697 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=2;GERMQ=47;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=86;POPAF=7.3;TLOD=8.7;SRC=custom;GRP=custom;CSQ=T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||1/35|ENST00000379370.7:c.201+324C>T|||||||rs116130865||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.2823|0.326|0.2334|0.1667|0.332|0.3262||||||||||0.2939|0.2688|0.3678|0.2271|0.2383|0.1763|0.3653|0.2911|0.3227|0.2845|0.3148|0.3678|gnomADg_AMI|||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||1/38|ENST00000620552.4:c.-214+324C>T|||||||rs116130865||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.2823|0.326|0.2334|0.1667|0.332|0.3262||||||||||0.2939|0.2688|0.3678|0.2271|0.2383|0.1763|0.3653|0.2911|0.3227|0.2845|0.3148|0.3678|gnomADg_AMI|||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000123|promoter||||||||||rs116130865||||SNV||||||||||||||||||||0.2823|0.326|0.2334|0.1667|0.332|0.3262||||||||||0.2939|0.2688|0.3678|0.2271|0.2383|0.1763|0.3653|0.2911|0.3227|0.2845|0.3148|0.3678|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,2:0.667:2:0,0:0,1:0,1:0|1:1020681_A_AG:1020681:0,0,1,1 -chr1 1021740 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C4;DP=6;ECNT=1;GERMQ=58;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=97;POPAF=7.3;TLOD=22.18;SRC=custom;GRP=custom;CSQ=C|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||1/35|ENST00000379370.7:c.202-461G>C|||||||rs3121553&COSV65071505||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.2724|0.27|0.232|0.1667|0.3539|0.3292||||||||||0.3006|0.2324|0.3904|0.2317|0.2844|0.1773|0.4328|0.2943|0.345|0.2929|0.3199|0.4328|gnomADg_FIN||0&1|0&1||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||1/38|ENST00000620552.4:c.-213-461G>C|||||||rs3121553&COSV65071505||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.2724|0.27|0.232|0.1667|0.3539|0.3292||||||||||0.3006|0.2324|0.3904|0.2317|0.2844|0.1773|0.4328|0.2943|0.345|0.2929|0.3199|0.4328|gnomADg_FIN||0&1|0&1||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000123|promoter||||||||||rs3121553&COSV65071505||||SNV||||||||||||||||||||0.2724|0.27|0.232|0.1667|0.3539|0.3292||||||||||0.3006|0.2324|0.3904|0.2317|0.2844|0.1773|0.4328|0.2943|0.345|0.2929|0.3199|0.4328|gnomADg_FIN||0&1|0&1|||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.857:6:0,1:0,2:0,5:0,0,2,4 -chr1 1021740 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=66;POPAF=7.3;TLOD=7.45;SRC=custom;GRP=custom;CSQ=C|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||1/35|ENST00000379370.7:c.202-461G>C|||||||rs3121553&COSV65071505||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.2724|0.27|0.232|0.1667|0.3539|0.3292||||||||||0.3006|0.2324|0.3904|0.2317|0.2844|0.1773|0.4328|0.2943|0.345|0.2929|0.3199|0.4328|gnomADg_FIN||0&1|0&1||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||1/38|ENST00000620552.4:c.-213-461G>C|||||||rs3121553&COSV65071505||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.2724|0.27|0.232|0.1667|0.3539|0.3292||||||||||0.3006|0.2324|0.3904|0.2317|0.2844|0.1773|0.4328|0.2943|0.345|0.2929|0.3199|0.4328|gnomADg_FIN||0&1|0&1||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000123|promoter||||||||||rs3121553&COSV65071505||||SNV||||||||||||||||||||0.2724|0.27|0.232|0.1667|0.3539|0.3292||||||||||0.3006|0.2324|0.3904|0.2317|0.2844|0.1773|0.4328|0.2943|0.345|0.2929|0.3199|0.4328|gnomADg_FIN||0&1|0&1|||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1022382 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=19%2C23|1%2C1;DP=48;ECNT=1;GERMQ=93;MBQ=33,30;MFRL=0,0;MMQ=60,60;MPOS=101;POPAF=7.3;TLOD=3.96;SRC=custom;GRP=custom;CSQ=G|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding|2/36||ENST00000379370.7:c.383A>G|ENSP00000368678.2:p.His128Arg|436|383|128|H/R|cAc/cGc|rs138808237||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1|deleterious_low_confidence(0.01)|||||||||||7.975e-06|6.17e-05|0|0|0|0|0|0|3.266e-05|3.942e-05|0.0001448|0|0|0|0|0|0|0|0|0|0.0001448|gnomADg_AFR|uncertain_significance||1||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|5_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding|2/39||ENST00000620552.4:c.-32A>G||433|||||rs138808237||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||||||||7.975e-06|6.17e-05|0|0|0|0|0|0|3.266e-05|3.942e-05|0.0001448|0|0|0|0|0|0|0|0|0|0.0001448|gnomADg_AFR|uncertain_significance||1||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:42,2:0.068:44:6,0:18,1:26,1:19,23,1,1 -chr1 1022388 . A T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=15%2C20|1%2C1;DP=37;ECNT=1;GERMQ=93;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=136;POPAF=7.3;TLOD=4.79;SRC=custom;GRP=custom;CSQ=T|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding|2/36||ENST00000379370.7:c.389A>T|ENSP00000368678.2:p.Asn130Ile|442|389|130|N/I|aAc/aTc|||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1|deleterious_low_confidence(0)|||||||||||||||||||||||||||||||||||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|5_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding|2/39||ENST00000620552.4:c.-26A>T||439|||||||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||||||||||||||||||||||||||||||||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:35,2:0.087:37:4,0:15,1:20,1:15,20,1,1 -chr1 1023351 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=94;POPAF=7.3;TLOD=7.15;SRC=custom;GRP=custom;CSQ=G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||2/35|ENST00000379370.7:c.463+889A>G|||||||rs2341363||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.3213|0.4047|0.2666|0.1696|0.3708|0.3528||||||||||0.3532|0.3532|0.3956|0.2561|0.331|0.1819|0.4473|0.3513|0.3754|0.3418|0.3397|0.4473|gnomADg_FIN|||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||2/38|ENST00000620552.4:c.49+889A>G|||||||rs2341363||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.3213|0.4047|0.2666|0.1696|0.3708|0.3528||||||||||0.3532|0.3532|0.3956|0.2561|0.331|0.1819|0.4473|0.3513|0.3754|0.3418|0.3397|0.4473|gnomADg_FIN|||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1023525 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=126;POPAF=7.3;TLOD=3.58;SRC=custom;GRP=custom;CSQ=G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||2/35|ENST00000379370.7:c.463+1063A>G|||||||rs2710890||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.3369|0.4629|0.2666|0.1706|0.3718|0.3517||||||||||0.3694|0.4084|0.3947|0.2624|0.3364|0.1837|0.4479|0.3558|0.3755|0.3494|0.3412|0.4629|AFR|||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||2/38|ENST00000620552.4:c.49+1063A>G|||||||rs2710890||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.3369|0.4629|0.2666|0.1706|0.3718|0.3517||||||||||0.3694|0.4084|0.3947|0.2624|0.3364|0.1837|0.4479|0.3558|0.3755|0.3494|0.3412|0.4629|AFR|||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 1023525 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=2;GERMQ=47;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=10;POPAF=7.3;TLOD=6.75;SRC=custom;GRP=custom;CSQ=G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||2/35|ENST00000379370.7:c.463+1063A>G|||||||rs2710890||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.3369|0.4629|0.2666|0.1706|0.3718|0.3517||||||||||0.3694|0.4084|0.3947|0.2624|0.3364|0.1837|0.4479|0.3558|0.3755|0.3494|0.3412|0.4629|AFR|||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||2/38|ENST00000620552.4:c.49+1063A>G|||||||rs2710890||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.3369|0.4629|0.2666|0.1706|0.3718|0.3517||||||||||0.3694|0.4084|0.3947|0.2624|0.3364|0.1837|0.4479|0.3558|0.3755|0.3494|0.3412|0.4629|AFR|||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1023573 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=2;GERMQ=47;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=58;POPAF=7.3;TLOD=7.25;SRC=custom;GRP=custom;CSQ=G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||2/35|ENST00000379370.7:c.463+1111A>G|||||||rs2710889||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.3448|0.4902|0.268|0.1706|0.3748|0.3517||||||||||0.3785|0.4333|0.3945|0.2696|0.3408|0.1832|0.4479|0.3513|0.3788|0.3541|0.3423|0.4902|AFR|||1|30595370|||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||2/38|ENST00000620552.4:c.49+1111A>G|||||||rs2710889||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.3448|0.4902|0.268|0.1706|0.3748|0.3517||||||||||0.3785|0.4333|0.3945|0.2696|0.3408|0.1832|0.4479|0.3513|0.3788|0.3541|0.3423|0.4902|AFR|||1|30595370|||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1024462 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=135;POPAF=7.3;TLOD=7.25;SRC=custom;GRP=custom;CSQ=T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||2/35|ENST00000379370.7:c.463+2000C>T|||||||rs2710888||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.2646|0.1793|0.2493|0.1895|0.3678|0.362||||||||||0.3065|0.193|0.4099|0.2522|0.3496|0.2073|0.4225|0.3734|0.3695|0.3103|0.3579|0.4225|gnomADg_FIN|||1|36224396|||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||2/38|ENST00000620552.4:c.49+2000C>T|||||||rs2710888||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.2646|0.1793|0.2493|0.1895|0.3678|0.362||||||||||0.3065|0.193|0.4099|0.2522|0.3496|0.2073|0.4225|0.3734|0.3695|0.3103|0.3579|0.4225|gnomADg_FIN|||1|36224396|||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1026830 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=37;POPAF=7.3;TLOD=7.15;SRC=custom;GRP=custom;CSQ=G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||2/35|ENST00000379370.7:c.463+4368A>G|||||||rs3128126||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.3055|0.2995|0.2622|0.1915|0.3917|0.3732||||||||||0.3561|0.2835|0.4352|0.2784|0.3562|0.2131|0.5076|0.3576|0.4039|0.3491|0.3593|0.5076|gnomADg_FIN||||23048207|||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||2/38|ENST00000620552.4:c.49+4368A>G|||||||rs3128126||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.3055|0.2995|0.2622|0.1915|0.3917|0.3732||||||||||0.3561|0.2835|0.4352|0.2784|0.3562|0.2131|0.5076|0.3576|0.4039|0.3491|0.3593|0.5076|gnomADg_FIN||||23048207|||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1026830 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=131;POPAF=7.3;TLOD=7.25;SRC=custom;GRP=custom;CSQ=G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||2/35|ENST00000379370.7:c.463+4368A>G|||||||rs3128126||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.3055|0.2995|0.2622|0.1915|0.3917|0.3732||||||||||0.3561|0.2835|0.4352|0.2784|0.3562|0.2131|0.5076|0.3576|0.4039|0.3491|0.3593|0.5076|gnomADg_FIN||||23048207|||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||2/38|ENST00000620552.4:c.49+4368A>G|||||||rs3128126||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.3055|0.2995|0.2622|0.1915|0.3917|0.3732||||||||||0.3561|0.2835|0.4352|0.2784|0.3562|0.2131|0.5076|0.3576|0.4039|0.3491|0.3593|0.5076|gnomADg_FIN||||23048207|||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1031917 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=64;POPAF=7.3;TLOD=7.35;SRC=custom;GRP=custom;CSQ=A|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||2/35|ENST00000379370.7:c.464-3360C>A|||||||||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||||||||||||||||||||||||||||||||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron|||||||||||2950|1||SNV|HGNC|HGNC:329||||3||||||||1||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||2/38|ENST00000620552.4:c.50-3360C>A|||||||||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||||||||||||||||||||||||||||||||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding|||||||||||2189|1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||||||||||||||||||||||||||||||||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding|||||||||||2189|1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||||||||||||||||||||||||||||||||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1034279 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=67;POPAF=7.3;TLOD=7.25;SRC=custom;GRP=custom;CSQ=A|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||2/35|ENST00000379370.7:c.464-998G>A|||||||rs2710884||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.2440|0.1694|0.2205|0.1587|0.328|0.363||||||||||0.2758|0.1774|0.3888|0.22|0.3153|0.1744|0.3891|0.329|0.3295|0.2912|0.3424|0.3891|gnomADg_FIN|||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||||||||||rs2710884|588|1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.2440|0.1694|0.2205|0.1587|0.328|0.363||||||||||0.2758|0.1774|0.3888|0.22|0.3153|0.1744|0.3891|0.329|0.3295|0.2912|0.3424|0.3891|gnomADg_FIN|||||||||||||,A|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||2/38|ENST00000620552.4:c.50-998G>A|||||||rs2710884||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.2440|0.1694|0.2205|0.1587|0.328|0.363||||||||||0.2758|0.1774|0.3888|0.22|0.3153|0.1744|0.3891|0.329|0.3295|0.2912|0.3424|0.3891|gnomADg_FIN|||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|5_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding|1/38||ENST00000651234.1:c.-277G>A||174|||||rs2710884||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.2440|0.1694|0.2205|0.1587|0.328|0.363||||||||||0.2758|0.1774|0.3888|0.22|0.3153|0.1744|0.3891|0.329|0.3295|0.2912|0.3424|0.3891|gnomADg_FIN|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|5_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding|1/35||ENST00000652369.1:c.-277G>A||174|||||rs2710884||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.2440|0.1694|0.2205|0.1587|0.328|0.363||||||||||0.2758|0.1774|0.3888|0.22|0.3153|0.1744|0.3891|0.329|0.3295|0.2912|0.3424|0.3891|gnomADg_FIN|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000125|promoter||||||||||rs2710884||||SNV||||||||||||||||||||0.2440|0.1694|0.2205|0.1587|0.328|0.363||||||||||0.2758|0.1774|0.3888|0.22|0.3153|0.1744|0.3891|0.329|0.3295|0.2912|0.3424|0.3891|gnomADg_FIN||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1035987 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C1;DP=3;ECNT=1;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=8;POPAF=7.3;TLOD=10.75;SRC=custom;GRP=custom;CSQ=C|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||3/35|ENST00000379370.7:c.511+663T>C|||||||rs2710883||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.9099|0.7663|0.9323|0.999|0.9334|0.9724||||||||||0.8962|0.786|0.9923|0.9319|0.9285|0.9998|0.9596|0.9082|0.9294|0.9048|0.9635|0.9998|gnomADg_EAS|||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|intron_variant&non_coding_transcript_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||1/2|ENST00000469403.1:n.458+663T>C|||||||rs2710883||1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.9099|0.7663|0.9323|0.999|0.9334|0.9724||||||||||0.8962|0.786|0.9923|0.9319|0.9285|0.9998|0.9596|0.9082|0.9294|0.9048|0.9635|0.9998|gnomADg_EAS|||||||||||||,C|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||3/38|ENST00000620552.4:c.97+663T>C|||||||rs2710883||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.9099|0.7663|0.9323|0.999|0.9334|0.9724||||||||||0.8962|0.786|0.9923|0.9319|0.9285|0.9998|0.9596|0.9082|0.9294|0.9048|0.9635|0.9998|gnomADg_EAS|||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||2/37|ENST00000651234.1:c.196+663T>C|||||||rs2710883||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.9099|0.7663|0.9323|0.999|0.9334|0.9724||||||||||0.8962|0.786|0.9923|0.9319|0.9285|0.9998|0.9596|0.9082|0.9294|0.9048|0.9635|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||2/34|ENST00000652369.1:c.196+663T>C|||||||rs2710883||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.9099|0.7663|0.9323|0.999|0.9334|0.9724||||||||||0.8962|0.786|0.9923|0.9319|0.9285|0.9998|0.9596|0.9082|0.9294|0.9048|0.9635|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164812|promoter||||||||||rs2710883||||SNV||||||||||||||||||||0.9099|0.7663|0.9323|0.999|0.9334|0.9724||||||||||0.8962|0.786|0.9923|0.9319|0.9285|0.9998|0.9596|0.9082|0.9294|0.9048|0.9635|0.9998|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,0:0,2:0,2:0,0,2,1 -chr1 1035987 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=1;GERMQ=52;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=50;POPAF=7.3;TLOD=14.53;SRC=custom;GRP=custom;CSQ=C|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||3/35|ENST00000379370.7:c.511+663T>C|||||||rs2710883||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.9099|0.7663|0.9323|0.999|0.9334|0.9724||||||||||0.8962|0.786|0.9923|0.9319|0.9285|0.9998|0.9596|0.9082|0.9294|0.9048|0.9635|0.9998|gnomADg_EAS|||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|intron_variant&non_coding_transcript_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||1/2|ENST00000469403.1:n.458+663T>C|||||||rs2710883||1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.9099|0.7663|0.9323|0.999|0.9334|0.9724||||||||||0.8962|0.786|0.9923|0.9319|0.9285|0.9998|0.9596|0.9082|0.9294|0.9048|0.9635|0.9998|gnomADg_EAS|||||||||||||,C|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||3/38|ENST00000620552.4:c.97+663T>C|||||||rs2710883||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.9099|0.7663|0.9323|0.999|0.9334|0.9724||||||||||0.8962|0.786|0.9923|0.9319|0.9285|0.9998|0.9596|0.9082|0.9294|0.9048|0.9635|0.9998|gnomADg_EAS|||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||2/37|ENST00000651234.1:c.196+663T>C|||||||rs2710883||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.9099|0.7663|0.9323|0.999|0.9334|0.9724||||||||||0.8962|0.786|0.9923|0.9319|0.9285|0.9998|0.9596|0.9082|0.9294|0.9048|0.9635|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||2/34|ENST00000652369.1:c.196+663T>C|||||||rs2710883||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.9099|0.7663|0.9323|0.999|0.9334|0.9724||||||||||0.8962|0.786|0.9923|0.9319|0.9285|0.9998|0.9596|0.9082|0.9294|0.9048|0.9635|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164812|promoter||||||||||rs2710883||||SNV||||||||||||||||||||0.9099|0.7663|0.9323|0.999|0.9334|0.9724||||||||||0.8962|0.786|0.9923|0.9319|0.9285|0.9998|0.9596|0.9082|0.9294|0.9048|0.9635|0.9998|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 1036754 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=3;ECNT=1;GERMQ=46;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=47;POPAF=7.3;TLOD=6.78;SRC=custom;GRP=custom;CSQ=T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||3/35|ENST00000379370.7:c.511+1430C>T|||||||rs3121575||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.8826|0.6815|0.9179|0.999|0.9245|0.9663||||||||||0.8627|0.7102|0.9692|0.9151|0.924|0.9998|0.9534|0.8917|0.9074|0.8791|0.9535|0.9998|gnomADg_EAS|||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|intron_variant&non_coding_transcript_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||1/2|ENST00000469403.1:n.458+1430C>T|||||||rs3121575||1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.8826|0.6815|0.9179|0.999|0.9245|0.9663||||||||||0.8627|0.7102|0.9692|0.9151|0.924|0.9998|0.9534|0.8917|0.9074|0.8791|0.9535|0.9998|gnomADg_EAS|||||||||||||,T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||3/38|ENST00000620552.4:c.97+1430C>T|||||||rs3121575||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.8826|0.6815|0.9179|0.999|0.9245|0.9663||||||||||0.8627|0.7102|0.9692|0.9151|0.924|0.9998|0.9534|0.8917|0.9074|0.8791|0.9535|0.9998|gnomADg_EAS|||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||2/37|ENST00000651234.1:c.196+1430C>T|||||||rs3121575||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.8826|0.6815|0.9179|0.999|0.9245|0.9663||||||||||0.8627|0.7102|0.9692|0.9151|0.924|0.9998|0.9534|0.8917|0.9074|0.8791|0.9535|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||2/34|ENST00000652369.1:c.196+1430C>T|||||||rs3121575||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.8826|0.6815|0.9179|0.999|0.9245|0.9663||||||||||0.8627|0.7102|0.9692|0.9151|0.924|0.9998|0.9534|0.8917|0.9074|0.8791|0.9535|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.75:2:0,0:0,2:0,2:0,0,2,0 -chr1 1036754 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C5;DP=9;ECNT=1;GERMQ=67;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=68;POPAF=7.3;TLOD=32.55;SRC=custom;GRP=custom;CSQ=T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||3/35|ENST00000379370.7:c.511+1430C>T|||||||rs3121575||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.8826|0.6815|0.9179|0.999|0.9245|0.9663||||||||||0.8627|0.7102|0.9692|0.9151|0.924|0.9998|0.9534|0.8917|0.9074|0.8791|0.9535|0.9998|gnomADg_EAS|||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|intron_variant&non_coding_transcript_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||1/2|ENST00000469403.1:n.458+1430C>T|||||||rs3121575||1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.8826|0.6815|0.9179|0.999|0.9245|0.9663||||||||||0.8627|0.7102|0.9692|0.9151|0.924|0.9998|0.9534|0.8917|0.9074|0.8791|0.9535|0.9998|gnomADg_EAS|||||||||||||,T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||3/38|ENST00000620552.4:c.97+1430C>T|||||||rs3121575||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.8826|0.6815|0.9179|0.999|0.9245|0.9663||||||||||0.8627|0.7102|0.9692|0.9151|0.924|0.9998|0.9534|0.8917|0.9074|0.8791|0.9535|0.9998|gnomADg_EAS|||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||2/37|ENST00000651234.1:c.196+1430C>T|||||||rs3121575||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.8826|0.6815|0.9179|0.999|0.9245|0.9663||||||||||0.8627|0.7102|0.9692|0.9151|0.924|0.9998|0.9534|0.8917|0.9074|0.8791|0.9535|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||2/34|ENST00000652369.1:c.196+1430C>T|||||||rs3121575||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.8826|0.6815|0.9179|0.999|0.9245|0.9663||||||||||0.8627|0.7102|0.9692|0.9151|0.924|0.9998|0.9534|0.8917|0.9074|0.8791|0.9535|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,9:0.875:9:0,1:0,4:0,6:0,0,4,5 -chr1 1037505 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C5|1%2C1;DP=9;ECNT=1;GERMQ=43;MBQ=32,34;MFRL=0,0;MMQ=60,60;MPOS=64;POPAF=7.3;TLOD=6.13;SRC=custom;GRP=custom;CSQ=G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||3/35|ENST00000379370.7:c.511+2181A>G|||||||||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||||||||||||||||||||||||||||||||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant&non_coding_transcript_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||1/2|ENST00000469403.1:n.458+2181A>G|||||||||1||SNV|HGNC|HGNC:329||||3||||||||1||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||3/38|ENST00000620552.4:c.97+2181A>G|||||||||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||||||||||||||||||||||||||||||||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||2/37|ENST00000651234.1:c.196+2181A>G|||||||||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||||||||||||||||||||||||||||||||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||2/34|ENST00000652369.1:c.196+2181A>G|||||||||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||||||||||||||||||||||||||||||||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,2:0.25:9:2,0:2,1:5,1:2,5,1,1 -chr1 1037956 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C3;DP=6;ECNT=3;GERMQ=58;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=60;POPAF=7.3;TLOD=22.26;SRC=custom;GRP=custom;CSQ=G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||3/35|ENST00000379370.7:c.511+2632A>G|||||||rs2488993||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.882|0.7503|0.9857|0.9256|0.9263|0.9998|0.959|0.8987|0.922|0.8905|0.9573|0.9998|gnomADg_EAS|||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant&non_coding_transcript_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||1/2|ENST00000469403.1:n.458+2632A>G|||||||rs2488993||1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.882|0.7503|0.9857|0.9256|0.9263|0.9998|0.959|0.8987|0.922|0.8905|0.9573|0.9998|gnomADg_EAS|||||||||||||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||3/38|ENST00000620552.4:c.97+2632A>G|||||||rs2488993||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.882|0.7503|0.9857|0.9256|0.9263|0.9998|0.959|0.8987|0.922|0.8905|0.9573|0.9998|gnomADg_EAS|||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||2/37|ENST00000651234.1:c.196+2632A>G|||||||rs2488993||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.882|0.7503|0.9857|0.9256|0.9263|0.9998|0.959|0.8987|0.922|0.8905|0.9573|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||2/34|ENST00000652369.1:c.196+2632A>G|||||||rs2488993||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.882|0.7503|0.9857|0.9256|0.9263|0.9998|0.959|0.8987|0.922|0.8905|0.9573|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.8:6:0,0:0,3:0,3:0,0,3,3 -chr1 1037956 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C3;DP=9;ECNT=3;GERMQ=58;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=36;POPAF=7.3;TLOD=21.38;SRC=custom;GRP=custom;CSQ=G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||3/35|ENST00000379370.7:c.511+2632A>G|||||||rs2488993||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.882|0.7503|0.9857|0.9256|0.9263|0.9998|0.959|0.8987|0.922|0.8905|0.9573|0.9998|gnomADg_EAS|||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant&non_coding_transcript_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||1/2|ENST00000469403.1:n.458+2632A>G|||||||rs2488993||1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.882|0.7503|0.9857|0.9256|0.9263|0.9998|0.959|0.8987|0.922|0.8905|0.9573|0.9998|gnomADg_EAS|||||||||||||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||3/38|ENST00000620552.4:c.97+2632A>G|||||||rs2488993||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.882|0.7503|0.9857|0.9256|0.9263|0.9998|0.959|0.8987|0.922|0.8905|0.9573|0.9998|gnomADg_EAS|||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||2/37|ENST00000651234.1:c.196+2632A>G|||||||rs2488993||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.882|0.7503|0.9857|0.9256|0.9263|0.9998|0.959|0.8987|0.922|0.8905|0.9573|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||2/34|ENST00000652369.1:c.196+2632A>G|||||||rs2488993||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.882|0.7503|0.9857|0.9256|0.9263|0.9998|0.959|0.8987|0.922|0.8905|0.9573|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.819:6:0,0:0,3:0,3:0,0,3,3 -chr1 1037997 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C3;DP=7;ECNT=3;GERMQ=60;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=84;POPAF=7.3;TLOD=25.44;SRC=custom;GRP=custom;CSQ=A|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||3/35|ENST00000379370.7:c.512-2668G>A|||||||rs2465129||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.9024|0.7428|0.928|0.999|0.9334|0.9683||||||||||0.8818|0.7497|0.9857|0.9254|0.9263|0.9998|0.959|0.8987|0.9219|0.8905|0.9574|0.9998|gnomADg_EAS|||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|intron_variant&non_coding_transcript_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||1/2|ENST00000469403.1:n.459-2668G>A|||||||rs2465129||1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.9024|0.7428|0.928|0.999|0.9334|0.9683||||||||||0.8818|0.7497|0.9857|0.9254|0.9263|0.9998|0.959|0.8987|0.9219|0.8905|0.9574|0.9998|gnomADg_EAS|||||||||||||,A|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||3/38|ENST00000620552.4:c.98-2668G>A|||||||rs2465129||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.9024|0.7428|0.928|0.999|0.9334|0.9683||||||||||0.8818|0.7497|0.9857|0.9254|0.9263|0.9998|0.959|0.8987|0.9219|0.8905|0.9574|0.9998|gnomADg_EAS|||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||2/37|ENST00000651234.1:c.197-2668G>A|||||||rs2465129||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.9024|0.7428|0.928|0.999|0.9334|0.9683||||||||||0.8818|0.7497|0.9857|0.9254|0.9263|0.9998|0.959|0.8987|0.9219|0.8905|0.9574|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||2/34|ENST00000652369.1:c.197-2668G>A|||||||rs2465129||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.9024|0.7428|0.928|0.999|0.9334|0.9683||||||||||0.8818|0.7497|0.9857|0.9254|0.9263|0.9998|0.959|0.8987|0.9219|0.8905|0.9574|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,7:0.833:7:0,0:0,4:0,4:0,0,4,3 -chr1 1037997 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=3;GERMQ=52;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=53;POPAF=7.3;TLOD=14.63;SRC=custom;GRP=custom;CSQ=A|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||3/35|ENST00000379370.7:c.512-2668G>A|||||||rs2465129||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.9024|0.7428|0.928|0.999|0.9334|0.9683||||||||||0.8818|0.7497|0.9857|0.9254|0.9263|0.9998|0.959|0.8987|0.9219|0.8905|0.9574|0.9998|gnomADg_EAS|||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|intron_variant&non_coding_transcript_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||1/2|ENST00000469403.1:n.459-2668G>A|||||||rs2465129||1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.9024|0.7428|0.928|0.999|0.9334|0.9683||||||||||0.8818|0.7497|0.9857|0.9254|0.9263|0.9998|0.959|0.8987|0.9219|0.8905|0.9574|0.9998|gnomADg_EAS|||||||||||||,A|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||3/38|ENST00000620552.4:c.98-2668G>A|||||||rs2465129||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.9024|0.7428|0.928|0.999|0.9334|0.9683||||||||||0.8818|0.7497|0.9857|0.9254|0.9263|0.9998|0.959|0.8987|0.9219|0.8905|0.9574|0.9998|gnomADg_EAS|||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||2/37|ENST00000651234.1:c.197-2668G>A|||||||rs2465129||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.9024|0.7428|0.928|0.999|0.9334|0.9683||||||||||0.8818|0.7497|0.9857|0.9254|0.9263|0.9998|0.959|0.8987|0.9219|0.8905|0.9574|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||2/34|ENST00000652369.1:c.197-2668G>A|||||||rs2465129||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.9024|0.7428|0.928|0.999|0.9334|0.9683||||||||||0.8818|0.7497|0.9857|0.9254|0.9263|0.9998|0.959|0.8987|0.9219|0.8905|0.9574|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 1038078 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C2;DP=5;ECNT=3;GERMQ=55;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=15;POPAF=7.3;TLOD=18.58;SRC=custom;GRP=custom;CSQ=T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||3/35|ENST00000379370.7:c.512-2587C>T|||||||rs2465130||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.8838|0.6846|0.9207|0.999|0.9245|0.9663||||||||||0.8716|0.7142|0.9857|0.9214|0.9263|0.9998|0.9589|0.8924|0.9218|0.8836|0.9575|0.9998|gnomADg_EAS|||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|intron_variant&non_coding_transcript_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||1/2|ENST00000469403.1:n.459-2587C>T|||||||rs2465130||1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.8838|0.6846|0.9207|0.999|0.9245|0.9663||||||||||0.8716|0.7142|0.9857|0.9214|0.9263|0.9998|0.9589|0.8924|0.9218|0.8836|0.9575|0.9998|gnomADg_EAS|||||||||||||,T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||3/38|ENST00000620552.4:c.98-2587C>T|||||||rs2465130||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.8838|0.6846|0.9207|0.999|0.9245|0.9663||||||||||0.8716|0.7142|0.9857|0.9214|0.9263|0.9998|0.9589|0.8924|0.9218|0.8836|0.9575|0.9998|gnomADg_EAS|||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||2/37|ENST00000651234.1:c.197-2587C>T|||||||rs2465130||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.8838|0.6846|0.9207|0.999|0.9245|0.9663||||||||||0.8716|0.7142|0.9857|0.9214|0.9263|0.9998|0.9589|0.8924|0.9218|0.8836|0.9575|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||2/34|ENST00000652369.1:c.197-2587C>T|||||||rs2465130||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.8838|0.6846|0.9207|0.999|0.9245|0.9663||||||||||0.8716|0.7142|0.9857|0.9214|0.9263|0.9998|0.9589|0.8924|0.9218|0.8836|0.9575|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.8:5:0,0:0,3:0,3:0,0,3,2 -chr1 1038078 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=3;GERMQ=44;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=142;POPAF=7.3;TLOD=3.58;SRC=custom;GRP=custom;CSQ=T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||3/35|ENST00000379370.7:c.512-2587C>T|||||||rs2465130||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.8838|0.6846|0.9207|0.999|0.9245|0.9663||||||||||0.8716|0.7142|0.9857|0.9214|0.9263|0.9998|0.9589|0.8924|0.9218|0.8836|0.9575|0.9998|gnomADg_EAS|||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|intron_variant&non_coding_transcript_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||1/2|ENST00000469403.1:n.459-2587C>T|||||||rs2465130||1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.8838|0.6846|0.9207|0.999|0.9245|0.9663||||||||||0.8716|0.7142|0.9857|0.9214|0.9263|0.9998|0.9589|0.8924|0.9218|0.8836|0.9575|0.9998|gnomADg_EAS|||||||||||||,T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||3/38|ENST00000620552.4:c.98-2587C>T|||||||rs2465130||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.8838|0.6846|0.9207|0.999|0.9245|0.9663||||||||||0.8716|0.7142|0.9857|0.9214|0.9263|0.9998|0.9589|0.8924|0.9218|0.8836|0.9575|0.9998|gnomADg_EAS|||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||2/37|ENST00000651234.1:c.197-2587C>T|||||||rs2465130||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.8838|0.6846|0.9207|0.999|0.9245|0.9663||||||||||0.8716|0.7142|0.9857|0.9214|0.9263|0.9998|0.9589|0.8924|0.9218|0.8836|0.9575|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||2/34|ENST00000652369.1:c.197-2587C>T|||||||rs2465130||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.8838|0.6846|0.9207|0.999|0.9245|0.9663||||||||||0.8716|0.7142|0.9857|0.9214|0.9263|0.9998|0.9589|0.8924|0.9218|0.8836|0.9575|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,0:0,1:0,0,0,1 -chr1 1038288 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C1;DP=5;ECNT=1;GERMQ=55;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=52;POPAF=7.3;TLOD=17.21;SRC=custom;GRP=custom;CSQ=G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||3/35|ENST00000379370.7:c.512-2377A>G|||||||rs2488994||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.8822|0.68|0.9193|0.999|0.9235|0.9663||||||||||0.8667|0.6972|0.9857|0.9209|0.9262|0.9998|0.958|0.8987|0.9216|0.8809|0.9571|0.9998|gnomADg_EAS|||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant&non_coding_transcript_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||1/2|ENST00000469403.1:n.459-2377A>G|||||||rs2488994||1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.8822|0.68|0.9193|0.999|0.9235|0.9663||||||||||0.8667|0.6972|0.9857|0.9209|0.9262|0.9998|0.958|0.8987|0.9216|0.8809|0.9571|0.9998|gnomADg_EAS|||||||||||||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||3/38|ENST00000620552.4:c.98-2377A>G|||||||rs2488994||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.8822|0.68|0.9193|0.999|0.9235|0.9663||||||||||0.8667|0.6972|0.9857|0.9209|0.9262|0.9998|0.958|0.8987|0.9216|0.8809|0.9571|0.9998|gnomADg_EAS|||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||2/37|ENST00000651234.1:c.197-2377A>G|||||||rs2488994||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.8822|0.68|0.9193|0.999|0.9235|0.9663||||||||||0.8667|0.6972|0.9857|0.9209|0.9262|0.9998|0.958|0.8987|0.9216|0.8809|0.9571|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||2/34|ENST00000652369.1:c.197-2377A>G|||||||rs2488994||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.8822|0.68|0.9193|0.999|0.9235|0.9663||||||||||0.8667|0.6972|0.9857|0.9209|0.9262|0.9998|0.958|0.8987|0.9216|0.8809|0.9571|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.833:5:0,0:0,4:0,4:0,0,4,1 -chr1 1038288 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C2;DP=6;ECNT=1;GERMQ=58;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=56;POPAF=7.3;TLOD=21.76;SRC=custom;GRP=custom;CSQ=G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||3/35|ENST00000379370.7:c.512-2377A>G|||||||rs2488994||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.8822|0.68|0.9193|0.999|0.9235|0.9663||||||||||0.8667|0.6972|0.9857|0.9209|0.9262|0.9998|0.958|0.8987|0.9216|0.8809|0.9571|0.9998|gnomADg_EAS|||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant&non_coding_transcript_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||1/2|ENST00000469403.1:n.459-2377A>G|||||||rs2488994||1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.8822|0.68|0.9193|0.999|0.9235|0.9663||||||||||0.8667|0.6972|0.9857|0.9209|0.9262|0.9998|0.958|0.8987|0.9216|0.8809|0.9571|0.9998|gnomADg_EAS|||||||||||||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||3/38|ENST00000620552.4:c.98-2377A>G|||||||rs2488994||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.8822|0.68|0.9193|0.999|0.9235|0.9663||||||||||0.8667|0.6972|0.9857|0.9209|0.9262|0.9998|0.958|0.8987|0.9216|0.8809|0.9571|0.9998|gnomADg_EAS|||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||2/37|ENST00000651234.1:c.197-2377A>G|||||||rs2488994||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.8822|0.68|0.9193|0.999|0.9235|0.9663||||||||||0.8667|0.6972|0.9857|0.9209|0.9262|0.9998|0.958|0.8987|0.9216|0.8809|0.9571|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||2/34|ENST00000652369.1:c.197-2377A>G|||||||rs2488994||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.8822|0.68|0.9193|0.999|0.9235|0.9663||||||||||0.8667|0.6972|0.9857|0.9209|0.9262|0.9998|0.958|0.8987|0.9216|0.8809|0.9571|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.833:6:0,0:0,4:0,4:0,0,4,2 -chr1 1038762 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=4%2C5|1%2C1;DP=11;ECNT=6;GERMQ=47;MBQ=33,31;MFRL=0,0;MMQ=60,60;MPOS=137;POPAF=7.3;TLOD=5.43;SRC=custom;GRP=custom;CSQ=C|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||3/35|ENST00000379370.7:c.512-1903T>C|||||||||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||||||||||||||||||||||||||||||||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|intron_variant&non_coding_transcript_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||1/2|ENST00000469403.1:n.459-1903T>C|||||||||1||SNV|HGNC|HGNC:329||||3||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||3/38|ENST00000620552.4:c.98-1903T>C|||||||||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||||||||||||||||||||||||||||||||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||2/37|ENST00000651234.1:c.197-1903T>C|||||||||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||||||||||||||||||||||||||||||||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||2/34|ENST00000652369.1:c.197-1903T>C|||||||||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||||||||||||||||||||||||||||||||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:9,2:0.25:11:1,0:4,1:5,1:4,5,1,1 -chr1 1038765 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=3%2C2|1%2C1;DP=7;ECNT=7;GERMQ=40;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=62;POPAF=7.3;TLOD=6.25;SRC=custom;GRP=custom;CSQ=T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||3/35|ENST00000379370.7:c.512-1900C>T|||||||rs1644858359||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1|||||||||||||||||||||6.57e-06|2.412e-05|0|0|0|0|0|0|0|0|0|2.412e-05|gnomADg_AFR|||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|intron_variant&non_coding_transcript_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||1/2|ENST00000469403.1:n.459-1900C>T|||||||rs1644858359||1||SNV|HGNC|HGNC:329||||3||||||||1|||||||||||||||||||||6.57e-06|2.412e-05|0|0|0|0|0|0|0|0|0|2.412e-05|gnomADg_AFR|||||||||||||,T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||3/38|ENST00000620552.4:c.98-1900C>T|||||||rs1644858359||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1|||||||||||||||||||||6.57e-06|2.412e-05|0|0|0|0|0|0|0|0|0|2.412e-05|gnomADg_AFR|||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||2/37|ENST00000651234.1:c.197-1900C>T|||||||rs1644858359||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1|||||||||||||||||||||6.57e-06|2.412e-05|0|0|0|0|0|0|0|0|0|2.412e-05|gnomADg_AFR|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||2/34|ENST00000652369.1:c.197-1900C>T|||||||rs1644858359||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1|||||||||||||||||||||6.57e-06|2.412e-05|0|0|0|0|0|0|0|0|0|2.412e-05|gnomADg_AFR|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:5,2:0.333:7:0,0:3,1:3,1:3,2,1,1 -chr1 1038775 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=3%2C2|1%2C1;DP=7;ECNT=7;GERMQ=40;MBQ=34,31;MFRL=0,0;MMQ=60,60;MPOS=86;POPAF=7.3;TLOD=5.85;SRC=custom;GRP=custom;CSQ=A|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||3/35|ENST00000379370.7:c.512-1890G>A|||||||rs959028244||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||||||||||||||||||||||||||||||||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|intron_variant&non_coding_transcript_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||1/2|ENST00000469403.1:n.459-1890G>A|||||||rs959028244||1||SNV|HGNC|HGNC:329||||3||||||||1||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||3/38|ENST00000620552.4:c.98-1890G>A|||||||rs959028244||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||||||||||||||||||||||||||||||||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||2/37|ENST00000651234.1:c.197-1890G>A|||||||rs959028244||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||||||||||||||||||||||||||||||||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||2/34|ENST00000652369.1:c.197-1890G>A|||||||rs959028244||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||||||||||||||||||||||||||||||||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:5,2:0.333:7:0,0:3,1:3,1:3,2,1,1 -chr1 1038800 . G T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C4;DP=9;ECNT=6;GERMQ=63;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=53;POPAF=7.3;TLOD=28.38;SRC=custom;GRP=custom;CSQ=T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||3/35|ENST00000379370.7:c.512-1865G>T|||||||rs3121577||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8818|0.7495|0.9857|0.9253|0.9263|0.9998|0.9591|0.8987|0.9219|0.89|0.9574|0.9998|gnomADg_EAS|||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|intron_variant&non_coding_transcript_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||1/2|ENST00000469403.1:n.459-1865G>T|||||||rs3121577||1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8818|0.7495|0.9857|0.9253|0.9263|0.9998|0.9591|0.8987|0.9219|0.89|0.9574|0.9998|gnomADg_EAS|||||||||||||,T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||3/38|ENST00000620552.4:c.98-1865G>T|||||||rs3121577||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8818|0.7495|0.9857|0.9253|0.9263|0.9998|0.9591|0.8987|0.9219|0.89|0.9574|0.9998|gnomADg_EAS|||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||2/37|ENST00000651234.1:c.197-1865G>T|||||||rs3121577||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8818|0.7495|0.9857|0.9253|0.9263|0.9998|0.9591|0.8987|0.9219|0.89|0.9574|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||2/34|ENST00000652369.1:c.197-1865G>T|||||||rs3121577||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8818|0.7495|0.9857|0.9253|0.9263|0.9998|0.9591|0.8987|0.9219|0.89|0.9574|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.841:8:0,0:0,4:0,4:0,0,4,4 -chr1 1038800 . G T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C3;DP=6;ECNT=7;GERMQ=58;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=101;POPAF=7.3;TLOD=21.76;SRC=custom;GRP=custom;CSQ=T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||3/35|ENST00000379370.7:c.512-1865G>T|||||||rs3121577||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8818|0.7495|0.9857|0.9253|0.9263|0.9998|0.9591|0.8987|0.9219|0.89|0.9574|0.9998|gnomADg_EAS|||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|intron_variant&non_coding_transcript_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||1/2|ENST00000469403.1:n.459-1865G>T|||||||rs3121577||1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8818|0.7495|0.9857|0.9253|0.9263|0.9998|0.9591|0.8987|0.9219|0.89|0.9574|0.9998|gnomADg_EAS|||||||||||||,T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||3/38|ENST00000620552.4:c.98-1865G>T|||||||rs3121577||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8818|0.7495|0.9857|0.9253|0.9263|0.9998|0.9591|0.8987|0.9219|0.89|0.9574|0.9998|gnomADg_EAS|||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||2/37|ENST00000651234.1:c.197-1865G>T|||||||rs3121577||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8818|0.7495|0.9857|0.9253|0.9263|0.9998|0.9591|0.8987|0.9219|0.89|0.9574|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||2/34|ENST00000652369.1:c.197-1865G>T|||||||rs3121577||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8818|0.7495|0.9857|0.9253|0.9263|0.9998|0.9591|0.8987|0.9219|0.89|0.9574|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.833:6:0,0:0,3:0,4:0,0,3,3 -chr1 1038819 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C4;DP=8;ECNT=6;GERMQ=63;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=72;POPAF=7.3;TLOD=28.42;SRC=custom;GRP=custom;CSQ=T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||3/35|ENST00000379370.7:c.512-1846C>T|||||||rs2465131||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8819|0.7498|0.9857|0.9254|0.9263|0.9998|0.9589|0.8987|0.9219|0.8895|0.9574|0.9998|gnomADg_EAS|||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|intron_variant&non_coding_transcript_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||1/2|ENST00000469403.1:n.459-1846C>T|||||||rs2465131||1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8819|0.7498|0.9857|0.9254|0.9263|0.9998|0.9589|0.8987|0.9219|0.8895|0.9574|0.9998|gnomADg_EAS|||||||||||||,T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||3/38|ENST00000620552.4:c.98-1846C>T|||||||rs2465131||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8819|0.7498|0.9857|0.9254|0.9263|0.9998|0.9589|0.8987|0.9219|0.8895|0.9574|0.9998|gnomADg_EAS|||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||2/37|ENST00000651234.1:c.197-1846C>T|||||||rs2465131||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8819|0.7498|0.9857|0.9254|0.9263|0.9998|0.9589|0.8987|0.9219|0.8895|0.9574|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||2/34|ENST00000652369.1:c.197-1846C>T|||||||rs2465131||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8819|0.7498|0.9857|0.9254|0.9263|0.9998|0.9589|0.8987|0.9219|0.8895|0.9574|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.833:8:0,0:0,4:0,4:0,0,4,4 -chr1 1038819 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C3;DP=6;ECNT=7;GERMQ=58;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=120;POPAF=7.3;TLOD=21.96;SRC=custom;GRP=custom;CSQ=T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||3/35|ENST00000379370.7:c.512-1846C>T|||||||rs2465131||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8819|0.7498|0.9857|0.9254|0.9263|0.9998|0.9589|0.8987|0.9219|0.8895|0.9574|0.9998|gnomADg_EAS|||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|intron_variant&non_coding_transcript_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||1/2|ENST00000469403.1:n.459-1846C>T|||||||rs2465131||1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8819|0.7498|0.9857|0.9254|0.9263|0.9998|0.9589|0.8987|0.9219|0.8895|0.9574|0.9998|gnomADg_EAS|||||||||||||,T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||3/38|ENST00000620552.4:c.98-1846C>T|||||||rs2465131||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8819|0.7498|0.9857|0.9254|0.9263|0.9998|0.9589|0.8987|0.9219|0.8895|0.9574|0.9998|gnomADg_EAS|||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||2/37|ENST00000651234.1:c.197-1846C>T|||||||rs2465131||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8819|0.7498|0.9857|0.9254|0.9263|0.9998|0.9589|0.8987|0.9219|0.8895|0.9574|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||2/34|ENST00000652369.1:c.197-1846C>T|||||||rs2465131||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8819|0.7498|0.9857|0.9254|0.9263|0.9998|0.9589|0.8987|0.9219|0.8895|0.9574|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.833:6:0,0:0,3:0,4:0,0,3,3 -chr1 1038845 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C3;DP=6;ECNT=6;GERMQ=58;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=87;POPAF=7.3;TLOD=22.53;SRC=custom;GRP=custom;CSQ=G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||3/35|ENST00000379370.7:c.512-1820A>G|||||||rs2488995||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8822|0.751|0.9857|0.9254|0.9263|0.9998|0.9591|0.8987|0.922|0.8902|0.9573|0.9998|gnomADg_EAS|||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant&non_coding_transcript_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||1/2|ENST00000469403.1:n.459-1820A>G|||||||rs2488995||1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8822|0.751|0.9857|0.9254|0.9263|0.9998|0.9591|0.8987|0.922|0.8902|0.9573|0.9998|gnomADg_EAS|||||||||||||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||3/38|ENST00000620552.4:c.98-1820A>G|||||||rs2488995||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8822|0.751|0.9857|0.9254|0.9263|0.9998|0.9591|0.8987|0.922|0.8902|0.9573|0.9998|gnomADg_EAS|||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||2/37|ENST00000651234.1:c.197-1820A>G|||||||rs2488995||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8822|0.751|0.9857|0.9254|0.9263|0.9998|0.9591|0.8987|0.922|0.8902|0.9573|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||2/34|ENST00000652369.1:c.197-1820A>G|||||||rs2488995||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8822|0.751|0.9857|0.9254|0.9263|0.9998|0.9591|0.8987|0.922|0.8902|0.9573|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.8:6:0,0:0,3:0,3:0,0,3,3 -chr1 1038845 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=4;ECNT=7;GERMQ=47;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=50;POPAF=7.3;TLOD=7.38;SRC=custom;GRP=custom;CSQ=G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||3/35|ENST00000379370.7:c.512-1820A>G|||||||rs2488995||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8822|0.751|0.9857|0.9254|0.9263|0.9998|0.9591|0.8987|0.922|0.8902|0.9573|0.9998|gnomADg_EAS|||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant&non_coding_transcript_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||1/2|ENST00000469403.1:n.459-1820A>G|||||||rs2488995||1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8822|0.751|0.9857|0.9254|0.9263|0.9998|0.9591|0.8987|0.922|0.8902|0.9573|0.9998|gnomADg_EAS|||||||||||||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||3/38|ENST00000620552.4:c.98-1820A>G|||||||rs2488995||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8822|0.751|0.9857|0.9254|0.9263|0.9998|0.9591|0.8987|0.922|0.8902|0.9573|0.9998|gnomADg_EAS|||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||2/37|ENST00000651234.1:c.197-1820A>G|||||||rs2488995||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8822|0.751|0.9857|0.9254|0.9263|0.9998|0.9591|0.8987|0.922|0.8902|0.9573|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||2/34|ENST00000652369.1:c.197-1820A>G|||||||rs2488995||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8822|0.751|0.9857|0.9254|0.9263|0.9998|0.9591|0.8987|0.922|0.8902|0.9573|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.684:2:0,0:0,1:0,1:0,0,1,1 -chr1 1038916 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=6;GERMQ=46;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=76;POPAF=7.3;TLOD=7.12;SRC=custom;GRP=custom;CSQ=G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||3/35|ENST00000379370.7:c.512-1749A>G|||||||rs2488996||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8819|0.75|0.9857|0.9253|0.9262|0.9998|0.9588|0.8987|0.922|0.89|0.9568|0.9998|gnomADg_EAS|||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant&non_coding_transcript_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||1/2|ENST00000469403.1:n.459-1749A>G|||||||rs2488996||1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8819|0.75|0.9857|0.9253|0.9262|0.9998|0.9588|0.8987|0.922|0.89|0.9568|0.9998|gnomADg_EAS|||||||||||||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||3/38|ENST00000620552.4:c.98-1749A>G|||||||rs2488996||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8819|0.75|0.9857|0.9253|0.9262|0.9998|0.9588|0.8987|0.922|0.89|0.9568|0.9998|gnomADg_EAS|||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||2/37|ENST00000651234.1:c.197-1749A>G|||||||rs2488996||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8819|0.75|0.9857|0.9253|0.9262|0.9998|0.9588|0.8987|0.922|0.89|0.9568|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||2/34|ENST00000652369.1:c.197-1749A>G|||||||rs2488996||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8819|0.75|0.9857|0.9253|0.9262|0.9998|0.9588|0.8987|0.922|0.89|0.9568|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1038916 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=7;GERMQ=44;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=75;POPAF=7.3;TLOD=3.58;SRC=custom;GRP=custom;CSQ=G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||3/35|ENST00000379370.7:c.512-1749A>G|||||||rs2488996||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8819|0.75|0.9857|0.9253|0.9262|0.9998|0.9588|0.8987|0.922|0.89|0.9568|0.9998|gnomADg_EAS|||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant&non_coding_transcript_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||1/2|ENST00000469403.1:n.459-1749A>G|||||||rs2488996||1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8819|0.75|0.9857|0.9253|0.9262|0.9998|0.9588|0.8987|0.922|0.89|0.9568|0.9998|gnomADg_EAS|||||||||||||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||3/38|ENST00000620552.4:c.98-1749A>G|||||||rs2488996||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8819|0.75|0.9857|0.9253|0.9262|0.9998|0.9588|0.8987|0.922|0.89|0.9568|0.9998|gnomADg_EAS|||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||2/37|ENST00000651234.1:c.197-1749A>G|||||||rs2488996||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8819|0.75|0.9857|0.9253|0.9262|0.9998|0.9588|0.8987|0.922|0.89|0.9568|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||2/34|ENST00000652369.1:c.197-1749A>G|||||||rs2488996||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8819|0.75|0.9857|0.9253|0.9262|0.9998|0.9588|0.8987|0.922|0.89|0.9568|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,0:0,1:0,0,0,1 -chr1 1039114 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C3;DP=5;ECNT=2;GERMQ=55;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=69;POPAF=7.3;TLOD=17.78;SRC=custom;GRP=custom;CSQ=T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||3/35|ENST00000379370.7:c.512-1551G>T|||||||rs2465133||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8818|0.7496|0.9857|0.9255|0.9263|0.9998|0.9589|0.8987|0.9219|0.8897|0.9571|0.9998|gnomADg_EAS|||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|intron_variant&non_coding_transcript_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||1/2|ENST00000469403.1:n.459-1551G>T|||||||rs2465133||1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8818|0.7496|0.9857|0.9255|0.9263|0.9998|0.9589|0.8987|0.9219|0.8897|0.9571|0.9998|gnomADg_EAS|||||||||||||,T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||3/38|ENST00000620552.4:c.98-1551G>T|||||||rs2465133||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8818|0.7496|0.9857|0.9255|0.9263|0.9998|0.9589|0.8987|0.9219|0.8897|0.9571|0.9998|gnomADg_EAS|||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||2/37|ENST00000651234.1:c.197-1551G>T|||||||rs2465133||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8818|0.7496|0.9857|0.9255|0.9263|0.9998|0.9589|0.8987|0.9219|0.8897|0.9571|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||2/34|ENST00000652369.1:c.197-1551G>T|||||||rs2465133||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8818|0.7496|0.9857|0.9255|0.9263|0.9998|0.9589|0.8987|0.9219|0.8897|0.9571|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.8:5:0,1:0,2:0,3:0,0,2,3 -chr1 1039114 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=1;GERMQ=50;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=103;POPAF=7.3;TLOD=10.85;SRC=custom;GRP=custom;CSQ=T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||3/35|ENST00000379370.7:c.512-1551G>T|||||||rs2465133||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8818|0.7496|0.9857|0.9255|0.9263|0.9998|0.9589|0.8987|0.9219|0.8897|0.9571|0.9998|gnomADg_EAS|||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|intron_variant&non_coding_transcript_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||1/2|ENST00000469403.1:n.459-1551G>T|||||||rs2465133||1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8818|0.7496|0.9857|0.9255|0.9263|0.9998|0.9589|0.8987|0.9219|0.8897|0.9571|0.9998|gnomADg_EAS|||||||||||||,T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||3/38|ENST00000620552.4:c.98-1551G>T|||||||rs2465133||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8818|0.7496|0.9857|0.9255|0.9263|0.9998|0.9589|0.8987|0.9219|0.8897|0.9571|0.9998|gnomADg_EAS|||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||2/37|ENST00000651234.1:c.197-1551G>T|||||||rs2465133||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8818|0.7496|0.9857|0.9255|0.9263|0.9998|0.9589|0.8987|0.9219|0.8897|0.9571|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||2/34|ENST00000652369.1:c.197-1551G>T|||||||rs2465133||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8818|0.7496|0.9857|0.9255|0.9263|0.9998|0.9589|0.8987|0.9219|0.8897|0.9571|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,1:0,1:0,2:0,0,1,2 -chr1 1039190 . T G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=2;GERMQ=44;MBQ=0,29;MFRL=0,0;MMQ=60,60;MPOS=145;POPAF=7.3;TLOD=3.01;SRC=custom;GRP=custom;CSQ=G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||3/35|ENST00000379370.7:c.512-1475T>G|||||||rs2465134||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8825|0.752|0.9857|0.9253|0.9263|0.9998|0.9592|0.8987|0.922|0.8904|0.9571|0.9998|gnomADg_EAS|||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant&non_coding_transcript_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||1/2|ENST00000469403.1:n.459-1475T>G|||||||rs2465134||1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8825|0.752|0.9857|0.9253|0.9263|0.9998|0.9592|0.8987|0.922|0.8904|0.9571|0.9998|gnomADg_EAS|||||||||||||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||3/38|ENST00000620552.4:c.98-1475T>G|||||||rs2465134||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8825|0.752|0.9857|0.9253|0.9263|0.9998|0.9592|0.8987|0.922|0.8904|0.9571|0.9998|gnomADg_EAS|||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||2/37|ENST00000651234.1:c.197-1475T>G|||||||rs2465134||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8825|0.752|0.9857|0.9253|0.9263|0.9998|0.9592|0.8987|0.922|0.8904|0.9571|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||2/34|ENST00000652369.1:c.197-1475T>G|||||||rs2465134||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8825|0.752|0.9857|0.9253|0.9263|0.9998|0.9592|0.8987|0.922|0.8904|0.9571|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.684:1:0,0:0,0:0,1:0,0,0,1 -chr1 1039282 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C0;DP=4;ECNT=1;GERMQ=50;MBQ=0,29;MFRL=0,0;MMQ=60,60;MPOS=1;POPAF=7.3;TLOD=9.83;SRC=custom;GRP=custom;CSQ=T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||3/35|ENST00000379370.7:c.512-1383G>T|||||||rs2465135||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.9093|0.764|0.9323|0.999|0.9334|0.9724||||||||||0.8956|0.7841|0.9923|0.9316|0.928|0.9998|0.9595|0.9082|0.9293|0.904|0.9623|0.9998|gnomADg_EAS|||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|intron_variant&non_coding_transcript_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||1/2|ENST00000469403.1:n.459-1383G>T|||||||rs2465135||1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.9093|0.764|0.9323|0.999|0.9334|0.9724||||||||||0.8956|0.7841|0.9923|0.9316|0.928|0.9998|0.9595|0.9082|0.9293|0.904|0.9623|0.9998|gnomADg_EAS|||||||||||||,T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||3/38|ENST00000620552.4:c.98-1383G>T|||||||rs2465135||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.9093|0.764|0.9323|0.999|0.9334|0.9724||||||||||0.8956|0.7841|0.9923|0.9316|0.928|0.9998|0.9595|0.9082|0.9293|0.904|0.9623|0.9998|gnomADg_EAS|||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||2/37|ENST00000651234.1:c.197-1383G>T|||||||rs2465135||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.9093|0.764|0.9323|0.999|0.9334|0.9724||||||||||0.8956|0.7841|0.9923|0.9316|0.928|0.9998|0.9595|0.9082|0.9293|0.904|0.9623|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||2/34|ENST00000652369.1:c.197-1383G>T|||||||rs2465135||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.9093|0.764|0.9323|0.999|0.9334|0.9724||||||||||0.8956|0.7841|0.9923|0.9316|0.928|0.9998|0.9595|0.9082|0.9293|0.904|0.9623|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.8:3:0,0:0,3:0,3:0,0,3,0 -chr1 1039514 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=40;POPAF=7.3;TLOD=7.15;SRC=custom;GRP=custom;CSQ=T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||3/35|ENST00000379370.7:c.512-1151C>T|||||||rs3121578||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.8065|0.4334|0.9006|0.9722|0.9185|0.9581||||||||||0.8032|0.4946|0.9857|0.8875|0.9195|0.9682|0.94|0.8671|0.9178|0.8337|0.9468|0.9857|gnomADg_AMI|||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|intron_variant&non_coding_transcript_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||1/2|ENST00000469403.1:n.459-1151C>T|||||||rs3121578||1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.8065|0.4334|0.9006|0.9722|0.9185|0.9581||||||||||0.8032|0.4946|0.9857|0.8875|0.9195|0.9682|0.94|0.8671|0.9178|0.8337|0.9468|0.9857|gnomADg_AMI|||||||||||||,T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||3/38|ENST00000620552.4:c.98-1151C>T|||||||rs3121578||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.8065|0.4334|0.9006|0.9722|0.9185|0.9581||||||||||0.8032|0.4946|0.9857|0.8875|0.9195|0.9682|0.94|0.8671|0.9178|0.8337|0.9468|0.9857|gnomADg_AMI|||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||2/37|ENST00000651234.1:c.197-1151C>T|||||||rs3121578||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.8065|0.4334|0.9006|0.9722|0.9185|0.9581||||||||||0.8032|0.4946|0.9857|0.8875|0.9195|0.9682|0.94|0.8671|0.9178|0.8337|0.9468|0.9857|gnomADg_AMI|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||2/34|ENST00000652369.1:c.197-1151C>T|||||||rs3121578||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.8065|0.4334|0.9006|0.9722|0.9185|0.9581||||||||||0.8032|0.4946|0.9857|0.8875|0.9195|0.9682|0.94|0.8671|0.9178|0.8337|0.9468|0.9857|gnomADg_AMI|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1039514 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=121;POPAF=7.3;TLOD=3.28;SRC=custom;GRP=custom;CSQ=T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||3/35|ENST00000379370.7:c.512-1151C>T|||||||rs3121578||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.8065|0.4334|0.9006|0.9722|0.9185|0.9581||||||||||0.8032|0.4946|0.9857|0.8875|0.9195|0.9682|0.94|0.8671|0.9178|0.8337|0.9468|0.9857|gnomADg_AMI|||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|intron_variant&non_coding_transcript_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||1/2|ENST00000469403.1:n.459-1151C>T|||||||rs3121578||1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.8065|0.4334|0.9006|0.9722|0.9185|0.9581||||||||||0.8032|0.4946|0.9857|0.8875|0.9195|0.9682|0.94|0.8671|0.9178|0.8337|0.9468|0.9857|gnomADg_AMI|||||||||||||,T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||3/38|ENST00000620552.4:c.98-1151C>T|||||||rs3121578||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.8065|0.4334|0.9006|0.9722|0.9185|0.9581||||||||||0.8032|0.4946|0.9857|0.8875|0.9195|0.9682|0.94|0.8671|0.9178|0.8337|0.9468|0.9857|gnomADg_AMI|||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||2/37|ENST00000651234.1:c.197-1151C>T|||||||rs3121578||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.8065|0.4334|0.9006|0.9722|0.9185|0.9581||||||||||0.8032|0.4946|0.9857|0.8875|0.9195|0.9682|0.94|0.8671|0.9178|0.8337|0.9468|0.9857|gnomADg_AMI|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||2/34|ENST00000652369.1:c.197-1151C>T|||||||rs3121578||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.8065|0.4334|0.9006|0.9722|0.9185|0.9581||||||||||0.8032|0.4946|0.9857|0.8875|0.9195|0.9682|0.94|0.8671|0.9178|0.8337|0.9468|0.9857|gnomADg_AMI|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 1039753 . T A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=1;GERMQ=49;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=113;POPAF=7.3;TLOD=8.4;SRC=custom;GRP=custom;CSQ=A|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||3/35|ENST00000379370.7:c.512-912T>A|||||||rs3121579||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.8956|0.7277|0.9236|0.999|0.9245|0.9663||||||||||0.8818|0.7499|0.9857|0.9253|0.9263|0.9998|0.9589|0.8987|0.9219|0.8898|0.9577|0.9998|gnomADg_EAS|||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|intron_variant&non_coding_transcript_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||1/2|ENST00000469403.1:n.459-912T>A|||||||rs3121579||1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.8956|0.7277|0.9236|0.999|0.9245|0.9663||||||||||0.8818|0.7499|0.9857|0.9253|0.9263|0.9998|0.9589|0.8987|0.9219|0.8898|0.9577|0.9998|gnomADg_EAS|||||||||||||,A|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||3/38|ENST00000620552.4:c.98-912T>A|||||||rs3121579||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.8956|0.7277|0.9236|0.999|0.9245|0.9663||||||||||0.8818|0.7499|0.9857|0.9253|0.9263|0.9998|0.9589|0.8987|0.9219|0.8898|0.9577|0.9998|gnomADg_EAS|||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||2/37|ENST00000651234.1:c.197-912T>A|||||||rs3121579||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.8956|0.7277|0.9236|0.999|0.9245|0.9663||||||||||0.8818|0.7499|0.9857|0.9253|0.9263|0.9998|0.9589|0.8987|0.9219|0.8898|0.9577|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||2/34|ENST00000652369.1:c.197-912T>A|||||||rs3121579||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.8956|0.7277|0.9236|0.999|0.9245|0.9663||||||||||0.8818|0.7499|0.9857|0.9253|0.9263|0.9998|0.9589|0.8987|0.9219|0.8898|0.9577|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,0:0,1:0,2:0,0,1,2 -chr1 1039753 . T A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=1;GERMQ=50;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=124;POPAF=7.3;TLOD=10.35;SRC=custom;GRP=custom;CSQ=A|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||3/35|ENST00000379370.7:c.512-912T>A|||||||rs3121579||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.8956|0.7277|0.9236|0.999|0.9245|0.9663||||||||||0.8818|0.7499|0.9857|0.9253|0.9263|0.9998|0.9589|0.8987|0.9219|0.8898|0.9577|0.9998|gnomADg_EAS|||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|intron_variant&non_coding_transcript_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||1/2|ENST00000469403.1:n.459-912T>A|||||||rs3121579||1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.8956|0.7277|0.9236|0.999|0.9245|0.9663||||||||||0.8818|0.7499|0.9857|0.9253|0.9263|0.9998|0.9589|0.8987|0.9219|0.8898|0.9577|0.9998|gnomADg_EAS|||||||||||||,A|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||3/38|ENST00000620552.4:c.98-912T>A|||||||rs3121579||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.8956|0.7277|0.9236|0.999|0.9245|0.9663||||||||||0.8818|0.7499|0.9857|0.9253|0.9263|0.9998|0.9589|0.8987|0.9219|0.8898|0.9577|0.9998|gnomADg_EAS|||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||2/37|ENST00000651234.1:c.197-912T>A|||||||rs3121579||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.8956|0.7277|0.9236|0.999|0.9245|0.9663||||||||||0.8818|0.7499|0.9857|0.9253|0.9263|0.9998|0.9589|0.8987|0.9219|0.8898|0.9577|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||2/34|ENST00000652369.1:c.197-912T>A|||||||rs3121579||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.8956|0.7277|0.9236|0.999|0.9245|0.9663||||||||||0.8818|0.7499|0.9857|0.9253|0.9263|0.9998|0.9589|0.8987|0.9219|0.8898|0.9577|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,1:0,1:0,2:0,0,1,2 -chr1 1040322 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=101;POPAF=7.3;TLOD=7.45;SRC=custom;GRP=custom;CSQ=G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||3/35|ENST00000379370.7:c.512-343A>G|||||||rs9331224||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.8966|0.7315|0.9236|0.999|0.9245|0.9663||||||||||0.8826|0.7529|0.9857|0.9257|0.9263|0.9998|0.9591|0.8987|0.9219|0.8902|0.9576|0.9998|gnomADg_EAS|||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant&non_coding_transcript_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||1/2|ENST00000469403.1:n.459-343A>G|||||||rs9331224||1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.8966|0.7315|0.9236|0.999|0.9245|0.9663||||||||||0.8826|0.7529|0.9857|0.9257|0.9263|0.9998|0.9591|0.8987|0.9219|0.8902|0.9576|0.9998|gnomADg_EAS|||||||||||||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||3/38|ENST00000620552.4:c.98-343A>G|||||||rs9331224||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.8966|0.7315|0.9236|0.999|0.9245|0.9663||||||||||0.8826|0.7529|0.9857|0.9257|0.9263|0.9998|0.9591|0.8987|0.9219|0.8902|0.9576|0.9998|gnomADg_EAS|||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||2/37|ENST00000651234.1:c.197-343A>G|||||||rs9331224||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.8966|0.7315|0.9236|0.999|0.9245|0.9663||||||||||0.8826|0.7529|0.9857|0.9257|0.9263|0.9998|0.9591|0.8987|0.9219|0.8902|0.9576|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||2/34|ENST00000652369.1:c.197-343A>G|||||||rs9331224||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.8966|0.7315|0.9236|0.999|0.9245|0.9663||||||||||0.8826|0.7529|0.9857|0.9257|0.9263|0.9998|0.9591|0.8987|0.9219|0.8902|0.9576|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1040322 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=44;MBQ=0,29;MFRL=0,0;MMQ=60,60;MPOS=73;POPAF=7.3;TLOD=3.01;SRC=custom;GRP=custom;CSQ=G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||3/35|ENST00000379370.7:c.512-343A>G|||||||rs9331224||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.8966|0.7315|0.9236|0.999|0.9245|0.9663||||||||||0.8826|0.7529|0.9857|0.9257|0.9263|0.9998|0.9591|0.8987|0.9219|0.8902|0.9576|0.9998|gnomADg_EAS|||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant&non_coding_transcript_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||1/2|ENST00000469403.1:n.459-343A>G|||||||rs9331224||1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.8966|0.7315|0.9236|0.999|0.9245|0.9663||||||||||0.8826|0.7529|0.9857|0.9257|0.9263|0.9998|0.9591|0.8987|0.9219|0.8902|0.9576|0.9998|gnomADg_EAS|||||||||||||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||3/38|ENST00000620552.4:c.98-343A>G|||||||rs9331224||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.8966|0.7315|0.9236|0.999|0.9245|0.9663||||||||||0.8826|0.7529|0.9857|0.9257|0.9263|0.9998|0.9591|0.8987|0.9219|0.8902|0.9576|0.9998|gnomADg_EAS|||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||2/37|ENST00000651234.1:c.197-343A>G|||||||rs9331224||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.8966|0.7315|0.9236|0.999|0.9245|0.9663||||||||||0.8826|0.7529|0.9857|0.9257|0.9263|0.9998|0.9591|0.8987|0.9219|0.8902|0.9576|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||2/34|ENST00000652369.1:c.197-343A>G|||||||rs9331224||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.8966|0.7315|0.9236|0.999|0.9245|0.9663||||||||||0.8826|0.7529|0.9857|0.9257|0.9263|0.9998|0.9591|0.8987|0.9219|0.8902|0.9576|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.684:1:0,1:0,0:0,1:0,0,0,1 -chr1 1041492 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C0|4%2C2;DP=8;ECNT=1;GERMQ=44;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=31;POPAF=7.3;TLOD=20.35;SRC=custom;GRP=custom;CSQ=A|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding|6/36||ENST00000379370.7:c.967G>A|ENSP00000368678.2:p.Ala323Thr|1020|967|323|A/T|Gcc/Acc|rs746773249&COSV65068517||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1|tolerated_low_confidence(0.64)|||||||||||1.411e-05|8.19e-05|0|0|5.907e-05|0|1.059e-05|0|0|1.316e-05|2.414e-05|0|0|0|0.0001942|0|0|0|0|0|0.0001942|gnomADg_EAS||0&1|0&1||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||||||||||rs746773249&COSV65068517|95|1||SNV|HGNC|HGNC:329||||3||||||||1||||||||||||1.411e-05|8.19e-05|0|0|5.907e-05|0|1.059e-05|0|0|1.316e-05|2.414e-05|0|0|0|0.0001942|0|0|0|0|0|0.0001942|gnomADg_EAS||0&1|0&1||||||||||,A|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000479707|retained_intron||||||||||rs746773249&COSV65068517|3907|1||SNV|HGNC|HGNC:329||||3||||||||1||||||||||||1.411e-05|8.19e-05|0|0|5.907e-05|0|1.059e-05|0|0|1.316e-05|2.414e-05|0|0|0|0.0001942|0|0|0|0|0|0.0001942|gnomADg_EAS||0&1|0&1||||||||||,A|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding|6/39||ENST00000620552.4:c.553G>A|ENSP00000484607.1:p.Ala185Thr|1017|553|185|A/T|Gcc/Acc|rs746773249&COSV65068517||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1|tolerated_low_confidence(0.66)|benign(0.041)||||||||||1.411e-05|8.19e-05|0|0|5.907e-05|0|1.059e-05|0|0|1.316e-05|2.414e-05|0|0|0|0.0001942|0|0|0|0|0|0.0001942|gnomADg_EAS||0&1|0&1||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding|5/38||ENST00000651234.1:c.652G>A|ENSP00000499046.1:p.Ala218Thr|1102|652|218|A/T|Gcc/Acc|rs746773249&COSV65068517||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1|tolerated_low_confidence(0.65)|benign(0.068)||||||||||1.411e-05|8.19e-05|0|0|5.907e-05|0|1.059e-05|0|0|1.316e-05|2.414e-05|0|0|0|0.0001942|0|0|0|0|0|0.0001942|gnomADg_EAS||0&1|0&1||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding|5/35||ENST00000652369.1:c.652G>A|ENSP00000498543.1:p.Ala218Thr|1102|652|218|A/T|Gcc/Acc|rs746773249&COSV65068517||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1|tolerated_low_confidence(0.6)|benign(0.068)||||||||||1.411e-05|8.19e-05|0|0|5.907e-05|0|1.059e-05|0|0|1.316e-05|2.414e-05|0|0|0|0.0001942|0|0|0|0|0|0.0001942|gnomADg_EAS||0&1|0&1||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,6:0.718:7:0,0:1,4:1,4:1,0,4,2 -chr1 1041586 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=12%2C13|1%2C1;DP=27;ECNT=1;GERMQ=83;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=99;POPAF=7.3;TLOD=5.02;SRC=custom;GRP=custom;CSQ=T|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding|6/36||ENST00000379370.7:c.1061C>T|ENSP00000368678.2:p.Ala354Val|1114|1061|354|A/V|gCg/gTg|rs759676959||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1|tolerated_low_confidence(0.09)|||||||||||8.418e-06|7.037e-05|0|0|0|0|9.537e-06|0|0|6.578e-06|0|0|0|0|0|0|0|1.471e-05|0|0|7.037e-05|gnomADe_AFR|uncertain_significance||1||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||||||||||rs759676959|189|1||SNV|HGNC|HGNC:329||||3||||||||1||||||||||||8.418e-06|7.037e-05|0|0|0|0|9.537e-06|0|0|6.578e-06|0|0|0|0|0|0|0|1.471e-05|0|0|7.037e-05|gnomADe_AFR|uncertain_significance||1||||||||||,T|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000479707|retained_intron||||||||||rs759676959|3813|1||SNV|HGNC|HGNC:329||||3||||||||1||||||||||||8.418e-06|7.037e-05|0|0|0|0|9.537e-06|0|0|6.578e-06|0|0|0|0|0|0|0|1.471e-05|0|0|7.037e-05|gnomADe_AFR|uncertain_significance||1||||||||||,T|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding|6/39||ENST00000620552.4:c.647C>T|ENSP00000484607.1:p.Ala216Val|1111|647|216|A/V|gCg/gTg|rs759676959||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1|tolerated_low_confidence(0.1)|benign(0.444)||||||||||8.418e-06|7.037e-05|0|0|0|0|9.537e-06|0|0|6.578e-06|0|0|0|0|0|0|0|1.471e-05|0|0|7.037e-05|gnomADe_AFR|uncertain_significance||1||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding|5/38||ENST00000651234.1:c.746C>T|ENSP00000499046.1:p.Ala249Val|1196|746|249|A/V|gCg/gTg|rs759676959||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1|tolerated_low_confidence(0.09)|benign(0.328)||||||||||8.418e-06|7.037e-05|0|0|0|0|9.537e-06|0|0|6.578e-06|0|0|0|0|0|0|0|1.471e-05|0|0|7.037e-05|gnomADe_AFR|uncertain_significance||1||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding|5/35||ENST00000652369.1:c.746C>T|ENSP00000498543.1:p.Ala249Val|1196|746|249|A/V|gCg/gTg|rs759676959||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1|tolerated_low_confidence(0.09)|benign(0.204)||||||||||8.418e-06|7.037e-05|0|0|0|0|9.537e-06|0|0|6.578e-06|0|0|0|0|0|0|0|1.471e-05|0|0|7.037e-05|gnomADe_AFR|uncertain_significance||1||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:25,2:0.111:27:2,0:12,1:15,1:12,13,1,1 -chr1 1041950 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=36;POPAF=7.3;TLOD=6.85;SRC=custom;GRP=custom;CSQ=C|splice_polypyrimidine_tract_variant&splice_region_variant&intron_variant|LOW|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||6/35|ENST00000379370.7:c.1178-6T>C|||||||rs2799066||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.8852|0.6899|0.9207|0.999|0.9245|0.9663|0.9233|0.7112|0.9515|0.9248|0.9998|0.9543|0.918|0.919|0.953|0.8731|0.7171|0.9857|0.9217|0.9266|0.9998|0.9589|0.8924|0.9218|0.886|0.9573|0.9998|gnomADe_EAS&gnomADg_EAS|benign||1|25741868&18414213|||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||||||||||rs2799066|553|1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.8852|0.6899|0.9207|0.999|0.9245|0.9663|0.9233|0.7112|0.9515|0.9248|0.9998|0.9543|0.918|0.919|0.953|0.8731|0.7171|0.9857|0.9217|0.9266|0.9998|0.9589|0.8924|0.9218|0.886|0.9573|0.9998|gnomADe_EAS&gnomADg_EAS|benign||1|25741868&18414213|||||||||,C|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000479707|retained_intron||||||||||rs2799066|3449|1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.8852|0.6899|0.9207|0.999|0.9245|0.9663|0.9233|0.7112|0.9515|0.9248|0.9998|0.9543|0.918|0.919|0.953|0.8731|0.7171|0.9857|0.9217|0.9266|0.9998|0.9589|0.8924|0.9218|0.886|0.9573|0.9998|gnomADe_EAS&gnomADg_EAS|benign||1|25741868&18414213|||||||||,C|splice_polypyrimidine_tract_variant&splice_region_variant&intron_variant|LOW|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||6/38|ENST00000620552.4:c.764-6T>C|||||||rs2799066||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.8852|0.6899|0.9207|0.999|0.9245|0.9663|0.9233|0.7112|0.9515|0.9248|0.9998|0.9543|0.918|0.919|0.953|0.8731|0.7171|0.9857|0.9217|0.9266|0.9998|0.9589|0.8924|0.9218|0.886|0.9573|0.9998|gnomADe_EAS&gnomADg_EAS|benign||1|25741868&18414213|||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|splice_polypyrimidine_tract_variant&splice_region_variant&intron_variant|LOW|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||5/37|ENST00000651234.1:c.863-6T>C|||||||rs2799066||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.8852|0.6899|0.9207|0.999|0.9245|0.9663|0.9233|0.7112|0.9515|0.9248|0.9998|0.9543|0.918|0.919|0.953|0.8731|0.7171|0.9857|0.9217|0.9266|0.9998|0.9589|0.8924|0.9218|0.886|0.9573|0.9998|gnomADe_EAS&gnomADg_EAS|benign||1|25741868&18414213|||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|splice_polypyrimidine_tract_variant&splice_region_variant&intron_variant|LOW|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||5/34|ENST00000652369.1:c.863-6T>C|||||||rs2799066||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.8852|0.6899|0.9207|0.999|0.9245|0.9663|0.9233|0.7112|0.9515|0.9248|0.9998|0.9543|0.918|0.919|0.953|0.8731|0.7171|0.9857|0.9217|0.9266|0.9998|0.9589|0.8924|0.9218|0.886|0.9573|0.9998|gnomADe_EAS&gnomADg_EAS|benign||1|25741868&18414213|||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164813|enhancer||||||||||rs2799066||||SNV||||||||||||||||||||0.8852|0.6899|0.9207|0.999|0.9245|0.9663|0.9233|0.7112|0.9515|0.9248|0.9998|0.9543|0.918|0.919|0.953|0.8731|0.7171|0.9857|0.9217|0.9266|0.9998|0.9589|0.8924|0.9218|0.886|0.9573|0.9998|gnomADe_EAS&gnomADg_EAS|benign||1|25741868&18414213||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1042190 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=85;POPAF=7.3;TLOD=7.25;SRC=custom;GRP=custom;CSQ=A|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||7/35|ENST00000379370.7:c.1384+28G>A|||||||rs2710876||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.7941|0.3896|0.8963|0.9722|0.9175|0.9581|0.8973|0.4355|0.9316|0.9182|0.9726|0.9373|0.9149|0.8986|0.9451|0.788|0.4415|0.9857|0.8833|0.9199|0.968|0.9398|0.879|0.9175|0.8246|0.9466|0.9857|gnomADg_AMI|benign||1|25741868|||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||||||||||rs2710876|793|1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.7941|0.3896|0.8963|0.9722|0.9175|0.9581|0.8973|0.4355|0.9316|0.9182|0.9726|0.9373|0.9149|0.8986|0.9451|0.788|0.4415|0.9857|0.8833|0.9199|0.968|0.9398|0.879|0.9175|0.8246|0.9466|0.9857|gnomADg_AMI|benign||1|25741868|||||||||,A|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000479707|retained_intron||||||||||rs2710876|3209|1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.7941|0.3896|0.8963|0.9722|0.9175|0.9581|0.8973|0.4355|0.9316|0.9182|0.9726|0.9373|0.9149|0.8986|0.9451|0.788|0.4415|0.9857|0.8833|0.9199|0.968|0.9398|0.879|0.9175|0.8246|0.9466|0.9857|gnomADg_AMI|benign||1|25741868|||||||||,A|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||7/38|ENST00000620552.4:c.970+28G>A|||||||rs2710876||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.7941|0.3896|0.8963|0.9722|0.9175|0.9581|0.8973|0.4355|0.9316|0.9182|0.9726|0.9373|0.9149|0.8986|0.9451|0.788|0.4415|0.9857|0.8833|0.9199|0.968|0.9398|0.879|0.9175|0.8246|0.9466|0.9857|gnomADg_AMI|benign||1|25741868|||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||6/37|ENST00000651234.1:c.1069+28G>A|||||||rs2710876||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.7941|0.3896|0.8963|0.9722|0.9175|0.9581|0.8973|0.4355|0.9316|0.9182|0.9726|0.9373|0.9149|0.8986|0.9451|0.788|0.4415|0.9857|0.8833|0.9199|0.968|0.9398|0.879|0.9175|0.8246|0.9466|0.9857|gnomADg_AMI|benign||1|25741868|||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||6/34|ENST00000652369.1:c.1069+28G>A|||||||rs2710876||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.7941|0.3896|0.8963|0.9722|0.9175|0.9581|0.8973|0.4355|0.9316|0.9182|0.9726|0.9373|0.9149|0.8986|0.9451|0.788|0.4415|0.9857|0.8833|0.9199|0.968|0.9398|0.879|0.9175|0.8246|0.9466|0.9857|gnomADg_AMI|benign||1|25741868|||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164813|enhancer||||||||||rs2710876||||SNV||||||||||||||||||||0.7941|0.3896|0.8963|0.9722|0.9175|0.9581|0.8973|0.4355|0.9316|0.9182|0.9726|0.9373|0.9149|0.8986|0.9451|0.788|0.4415|0.9857|0.8833|0.9199|0.968|0.9398|0.879|0.9175|0.8246|0.9466|0.9857|gnomADg_AMI|benign||1|25741868||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1042190 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=77;POPAF=7.3;TLOD=7.02;SRC=custom;GRP=custom;CSQ=A|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||7/35|ENST00000379370.7:c.1384+28G>A|||||||rs2710876||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.7941|0.3896|0.8963|0.9722|0.9175|0.9581|0.8973|0.4355|0.9316|0.9182|0.9726|0.9373|0.9149|0.8986|0.9451|0.788|0.4415|0.9857|0.8833|0.9199|0.968|0.9398|0.879|0.9175|0.8246|0.9466|0.9857|gnomADg_AMI|benign||1|25741868|||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||||||||||rs2710876|793|1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.7941|0.3896|0.8963|0.9722|0.9175|0.9581|0.8973|0.4355|0.9316|0.9182|0.9726|0.9373|0.9149|0.8986|0.9451|0.788|0.4415|0.9857|0.8833|0.9199|0.968|0.9398|0.879|0.9175|0.8246|0.9466|0.9857|gnomADg_AMI|benign||1|25741868|||||||||,A|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000479707|retained_intron||||||||||rs2710876|3209|1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.7941|0.3896|0.8963|0.9722|0.9175|0.9581|0.8973|0.4355|0.9316|0.9182|0.9726|0.9373|0.9149|0.8986|0.9451|0.788|0.4415|0.9857|0.8833|0.9199|0.968|0.9398|0.879|0.9175|0.8246|0.9466|0.9857|gnomADg_AMI|benign||1|25741868|||||||||,A|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||7/38|ENST00000620552.4:c.970+28G>A|||||||rs2710876||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.7941|0.3896|0.8963|0.9722|0.9175|0.9581|0.8973|0.4355|0.9316|0.9182|0.9726|0.9373|0.9149|0.8986|0.9451|0.788|0.4415|0.9857|0.8833|0.9199|0.968|0.9398|0.879|0.9175|0.8246|0.9466|0.9857|gnomADg_AMI|benign||1|25741868|||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||6/37|ENST00000651234.1:c.1069+28G>A|||||||rs2710876||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.7941|0.3896|0.8963|0.9722|0.9175|0.9581|0.8973|0.4355|0.9316|0.9182|0.9726|0.9373|0.9149|0.8986|0.9451|0.788|0.4415|0.9857|0.8833|0.9199|0.968|0.9398|0.879|0.9175|0.8246|0.9466|0.9857|gnomADg_AMI|benign||1|25741868|||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||6/34|ENST00000652369.1:c.1069+28G>A|||||||rs2710876||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.7941|0.3896|0.8963|0.9722|0.9175|0.9581|0.8973|0.4355|0.9316|0.9182|0.9726|0.9373|0.9149|0.8986|0.9451|0.788|0.4415|0.9857|0.8833|0.9199|0.968|0.9398|0.879|0.9175|0.8246|0.9466|0.9857|gnomADg_AMI|benign||1|25741868|||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164813|enhancer||||||||||rs2710876||||SNV||||||||||||||||||||0.7941|0.3896|0.8963|0.9722|0.9175|0.9581|0.8973|0.4355|0.9316|0.9182|0.9726|0.9373|0.9149|0.8986|0.9451|0.788|0.4415|0.9857|0.8833|0.9199|0.968|0.9398|0.879|0.9175|0.8246|0.9466|0.9857|gnomADg_AMI|benign||1|25741868||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1042400 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,29;MFRL=0,0;MMQ=60,60;MPOS=20;POPAF=7.3;TLOD=3.08;SRC=custom;GRP=custom;CSQ=T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||7/35|ENST00000379370.7:c.1384+238C>T|||||||rs2710875||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.8065|0.4334|0.9006|0.9722|0.9185|0.9581||||||||||0.8031|0.4943|0.9857|0.8876|0.9199|0.9677|0.9402|0.8797|0.9179|0.8338|0.9466|0.9857|gnomADg_AMI|benign||1||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000466223|retained_intron||||||||||rs2710875|4801|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.8065|0.4334|0.9006|0.9722|0.9185|0.9581||||||||||0.8031|0.4943|0.9857|0.8876|0.9199|0.9677|0.9402|0.8797|0.9179|0.8338|0.9466|0.9857|gnomADg_AMI|benign||1||||||||||,T|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||||||||||rs2710875|1003|1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.8065|0.4334|0.9006|0.9722|0.9185|0.9581||||||||||0.8031|0.4943|0.9857|0.8876|0.9199|0.9677|0.9402|0.8797|0.9179|0.8338|0.9466|0.9857|gnomADg_AMI|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000479707|retained_intron||||||||||rs2710875|2999|1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.8065|0.4334|0.9006|0.9722|0.9185|0.9581||||||||||0.8031|0.4943|0.9857|0.8876|0.9199|0.9677|0.9402|0.8797|0.9179|0.8338|0.9466|0.9857|gnomADg_AMI|benign||1||||||||||,T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||7/38|ENST00000620552.4:c.970+238C>T|||||||rs2710875||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.8065|0.4334|0.9006|0.9722|0.9185|0.9581||||||||||0.8031|0.4943|0.9857|0.8876|0.9199|0.9677|0.9402|0.8797|0.9179|0.8338|0.9466|0.9857|gnomADg_AMI|benign||1||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||6/37|ENST00000651234.1:c.1069+238C>T|||||||rs2710875||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.8065|0.4334|0.9006|0.9722|0.9185|0.9581||||||||||0.8031|0.4943|0.9857|0.8876|0.9199|0.9677|0.9402|0.8797|0.9179|0.8338|0.9466|0.9857|gnomADg_AMI|benign||1||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||6/34|ENST00000652369.1:c.1069+238C>T|||||||rs2710875||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.8065|0.4334|0.9006|0.9722|0.9185|0.9581||||||||||0.8031|0.4943|0.9857|0.8876|0.9199|0.9677|0.9402|0.8797|0.9179|0.8338|0.9466|0.9857|gnomADg_AMI|benign||1||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164813|enhancer||||||||||rs2710875||||SNV||||||||||||||||||||0.8065|0.4334|0.9006|0.9722|0.9185|0.9581||||||||||0.8031|0.4943|0.9857|0.8876|0.9199|0.9677|0.9402|0.8797|0.9179|0.8338|0.9466|0.9857|gnomADg_AMI|benign||1|||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 1042400 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C2;DP=5;ECNT=2;GERMQ=55;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=24;POPAF=7.3;TLOD=18.28;SRC=custom;GRP=custom;CSQ=T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||7/35|ENST00000379370.7:c.1384+238C>T|||||||rs2710875||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.8065|0.4334|0.9006|0.9722|0.9185|0.9581||||||||||0.8031|0.4943|0.9857|0.8876|0.9199|0.9677|0.9402|0.8797|0.9179|0.8338|0.9466|0.9857|gnomADg_AMI|benign||1||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000466223|retained_intron||||||||||rs2710875|4801|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.8065|0.4334|0.9006|0.9722|0.9185|0.9581||||||||||0.8031|0.4943|0.9857|0.8876|0.9199|0.9677|0.9402|0.8797|0.9179|0.8338|0.9466|0.9857|gnomADg_AMI|benign||1||||||||||,T|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||||||||||rs2710875|1003|1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.8065|0.4334|0.9006|0.9722|0.9185|0.9581||||||||||0.8031|0.4943|0.9857|0.8876|0.9199|0.9677|0.9402|0.8797|0.9179|0.8338|0.9466|0.9857|gnomADg_AMI|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000479707|retained_intron||||||||||rs2710875|2999|1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.8065|0.4334|0.9006|0.9722|0.9185|0.9581||||||||||0.8031|0.4943|0.9857|0.8876|0.9199|0.9677|0.9402|0.8797|0.9179|0.8338|0.9466|0.9857|gnomADg_AMI|benign||1||||||||||,T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||7/38|ENST00000620552.4:c.970+238C>T|||||||rs2710875||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.8065|0.4334|0.9006|0.9722|0.9185|0.9581||||||||||0.8031|0.4943|0.9857|0.8876|0.9199|0.9677|0.9402|0.8797|0.9179|0.8338|0.9466|0.9857|gnomADg_AMI|benign||1||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||6/37|ENST00000651234.1:c.1069+238C>T|||||||rs2710875||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.8065|0.4334|0.9006|0.9722|0.9185|0.9581||||||||||0.8031|0.4943|0.9857|0.8876|0.9199|0.9677|0.9402|0.8797|0.9179|0.8338|0.9466|0.9857|gnomADg_AMI|benign||1||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||6/34|ENST00000652369.1:c.1069+238C>T|||||||rs2710875||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.8065|0.4334|0.9006|0.9722|0.9185|0.9581||||||||||0.8031|0.4943|0.9857|0.8876|0.9199|0.9677|0.9402|0.8797|0.9179|0.8338|0.9466|0.9857|gnomADg_AMI|benign||1||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164813|enhancer||||||||||rs2710875||||SNV||||||||||||||||||||0.8065|0.4334|0.9006|0.9722|0.9185|0.9581||||||||||0.8031|0.4943|0.9857|0.8876|0.9199|0.9677|0.9402|0.8797|0.9179|0.8338|0.9466|0.9857|gnomADg_AMI|benign||1|||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.8:5:0,0:0,3:0,3:0,0,3,2 -chr1 1042478 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4%2C3|1%2C1;DP=9;ECNT=2;GERMQ=43;MBQ=34,32;MFRL=0,0;MMQ=60,60;MPOS=124;POPAF=7.3;TLOD=5.88;SRC=custom;GRP=custom;CSQ=T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||7/35|ENST00000379370.7:c.1384+316C>T|||||||||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||||||||||||||||||||||||||||||||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000466223|retained_intron|||||||||||4723|1||SNV|HGNC|HGNC:329||||2||||||||1||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron|||||||||||1081|1||SNV|HGNC|HGNC:329||||3||||||||1||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000478677|retained_intron|||||||||||4997|1||SNV|HGNC|HGNC:329||||2||||||||1||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000479707|retained_intron|||||||||||2921|1||SNV|HGNC|HGNC:329||||3||||||||1||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||7/38|ENST00000620552.4:c.970+316C>T|||||||||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||||||||||||||||||||||||||||||||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||6/37|ENST00000651234.1:c.1069+316C>T|||||||||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||||||||||||||||||||||||||||||||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||6/34|ENST00000652369.1:c.1069+316C>T|||||||||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||||||||||||||||||||||||||||||||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,2:0.286:9:0,0:4,1:4,1:4,3,1,1 -chr1 1043295 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=7%2C7|1%2C1;DP=16;ECNT=1;GERMQ=57;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=70;POPAF=7.3;TLOD=5.42;SRC=custom;GRP=custom;CSQ=A|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding|8/36||ENST00000379370.7:c.1441G>A|ENSP00000368678.2:p.Val481Met|1494|1441|481|V/M|Gtg/Atg|rs1557704112||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1|deleterious_low_confidence(0)|||||||||||4.082e-06|0|0|0|0|0|9.051e-06|0|0||||||||||||9.051e-06|gnomADe_NFE|||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000466223|retained_intron||||||||||rs1557704112|3906|1||SNV|HGNC|HGNC:329||||2||||||||1||||||||||||4.082e-06|0|0|0|0|0|9.051e-06|0|0||||||||||||9.051e-06|gnomADe_NFE|||||||||||||,A|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||||||||||rs1557704112|1898|1||SNV|HGNC|HGNC:329||||3||||||||1||||||||||||4.082e-06|0|0|0|0|0|9.051e-06|0|0||||||||||||9.051e-06|gnomADe_NFE|||||||||||||,A|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000478677|retained_intron||||||||||rs1557704112|4180|1||SNV|HGNC|HGNC:329||||2||||||||1||||||||||||4.082e-06|0|0|0|0|0|9.051e-06|0|0||||||||||||9.051e-06|gnomADe_NFE|||||||||||||,A|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000479707|retained_intron||||||||||rs1557704112|2104|1||SNV|HGNC|HGNC:329||||3||||||||1||||||||||||4.082e-06|0|0|0|0|0|9.051e-06|0|0||||||||||||9.051e-06|gnomADe_NFE|||||||||||||,A|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding|8/39||ENST00000620552.4:c.1027G>A|ENSP00000484607.1:p.Val343Met|1491|1027|343|V/M|Gtg/Atg|rs1557704112||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1|deleterious_low_confidence(0)|possibly_damaging(0.762)||||||||||4.082e-06|0|0|0|0|0|9.051e-06|0|0||||||||||||9.051e-06|gnomADe_NFE|||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding|7/38||ENST00000651234.1:c.1126G>A|ENSP00000499046.1:p.Val376Met|1576|1126|376|V/M|Gtg/Atg|rs1557704112||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1|deleterious_low_confidence(0)|probably_damaging(0.965)||||||||||4.082e-06|0|0|0|0|0|9.051e-06|0|0||||||||||||9.051e-06|gnomADe_NFE|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding|7/35||ENST00000652369.1:c.1126G>A|ENSP00000498543.1:p.Val376Met|1576|1126|376|V/M|Gtg/Atg|rs1557704112||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1|deleterious_low_confidence(0)|probably_damaging(0.944)||||||||||4.082e-06|0|0|0|0|0|9.051e-06|0|0||||||||||||9.051e-06|gnomADe_NFE|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:14,2:0.168:16:2,0:6,1:9,1:7,7,1,1 -chr1 1043611 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=11%2C9|1%2C1;DP=22;ECNT=1;GERMQ=71;MBQ=35,31;MFRL=0,0;MMQ=60,60;MPOS=35;POPAF=7.3;TLOD=4.96;SRC=custom;GRP=custom;CSQ=T|synonymous_variant|LOW|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding|9/36||ENST00000379370.7:c.1677C>T|ENSP00000368678.2:p.Cys559%3D|1730|1677|559|C|tgC/tgT|rs572191083&COSV65070518||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.0002|0.0008|0|0|0|0|8.395e-06|6.348e-05|0|0|0|0|9.277e-06|0|0|1.314e-05|2.412e-05|0|0|0|0|0|0|1.47e-05|0|0|0.0008|AFR||0&1|0&1||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000466223|retained_intron||||||||||rs572191083&COSV65070518|3590|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.0002|0.0008|0|0|0|0|8.395e-06|6.348e-05|0|0|0|0|9.277e-06|0|0|1.314e-05|2.412e-05|0|0|0|0|0|0|1.47e-05|0|0|0.0008|AFR||0&1|0&1||||||||||,T|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||||||||||rs572191083&COSV65070518|2214|1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.0002|0.0008|0|0|0|0|8.395e-06|6.348e-05|0|0|0|0|9.277e-06|0|0|1.314e-05|2.412e-05|0|0|0|0|0|0|1.47e-05|0|0|0.0008|AFR||0&1|0&1||||||||||,T|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000478677|retained_intron||||||||||rs572191083&COSV65070518|3864|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.0002|0.0008|0|0|0|0|8.395e-06|6.348e-05|0|0|0|0|9.277e-06|0|0|1.314e-05|2.412e-05|0|0|0|0|0|0|1.47e-05|0|0|0.0008|AFR||0&1|0&1||||||||||,T|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000479707|retained_intron||||||||||rs572191083&COSV65070518|1788|1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.0002|0.0008|0|0|0|0|8.395e-06|6.348e-05|0|0|0|0|9.277e-06|0|0|1.314e-05|2.412e-05|0|0|0|0|0|0|1.47e-05|0|0|0.0008|AFR||0&1|0&1||||||||||,T|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000492947|retained_intron||||||||||rs572191083&COSV65070518|4918|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.0002|0.0008|0|0|0|0|8.395e-06|6.348e-05|0|0|0|0|9.277e-06|0|0|1.314e-05|2.412e-05|0|0|0|0|0|0|1.47e-05|0|0|0.0008|AFR||0&1|0&1||||||||||,T|synonymous_variant|LOW|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding|9/39||ENST00000620552.4:c.1263C>T|ENSP00000484607.1:p.Cys421%3D|1727|1263|421|C|tgC/tgT|rs572191083&COSV65070518||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.0002|0.0008|0|0|0|0|8.395e-06|6.348e-05|0|0|0|0|9.277e-06|0|0|1.314e-05|2.412e-05|0|0|0|0|0|0|1.47e-05|0|0|0.0008|AFR||0&1|0&1||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|synonymous_variant|LOW|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding|8/38||ENST00000651234.1:c.1362C>T|ENSP00000499046.1:p.Cys454%3D|1812|1362|454|C|tgC/tgT|rs572191083&COSV65070518||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.0002|0.0008|0|0|0|0|8.395e-06|6.348e-05|0|0|0|0|9.277e-06|0|0|1.314e-05|2.412e-05|0|0|0|0|0|0|1.47e-05|0|0|0.0008|AFR||0&1|0&1||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|synonymous_variant|LOW|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding|8/35||ENST00000652369.1:c.1362C>T|ENSP00000498543.1:p.Cys454%3D|1812|1362|454|C|tgC/tgT|rs572191083&COSV65070518||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.0002|0.0008|0|0|0|0|8.395e-06|6.348e-05|0|0|0|0|9.277e-06|0|0|1.314e-05|2.412e-05|0|0|0|0|0|0|1.47e-05|0|0|0.0008|AFR||0&1|0&1||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:20,2:0.143:22:0,0:11,1:11,1:11,9,1,1 -chr1 1044368 . A T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,23;MFRL=0,0;MMQ=60,60;MPOS=12;POPAF=7.3;TLOD=4.03;SRC=custom;GRP=custom;CSQ=T|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding|12/36||ENST00000379370.7:c.2183A>T|ENSP00000368678.2:p.Glu728Val|2236|2183|728|E/V|gAg/gTg|rs113288277||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1|deleterious_low_confidence(0)|||||0.0184|0.0008|0.0159|0.0079|0.0467|0.0256|0.02976|0.006361|0.01538|0.04379|0.004194|0.03733|0.0409|0.03386|0.02206|0.02948|0.006732|0.07363|0.02142|0.03487|0.005029|0.03885|0.0538|0.04476|0.02553|0.02808|0.07363|gnomADg_AMI|benign||1|25741868&18414213&31882771|||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000466223|retained_intron||||||||||rs113288277|2833|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.0184|0.0008|0.0159|0.0079|0.0467|0.0256|0.02976|0.006361|0.01538|0.04379|0.004194|0.03733|0.0409|0.03386|0.02206|0.02948|0.006732|0.07363|0.02142|0.03487|0.005029|0.03885|0.0538|0.04476|0.02553|0.02808|0.07363|gnomADg_AMI|benign||1|25741868&18414213&31882771|||||||||,T|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||||||||||rs113288277|2971|1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.0184|0.0008|0.0159|0.0079|0.0467|0.0256|0.02976|0.006361|0.01538|0.04379|0.004194|0.03733|0.0409|0.03386|0.02206|0.02948|0.006732|0.07363|0.02142|0.03487|0.005029|0.03885|0.0538|0.04476|0.02553|0.02808|0.07363|gnomADg_AMI|benign||1|25741868&18414213&31882771|||||||||,T|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000478677|retained_intron||||||||||rs113288277|3107|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.0184|0.0008|0.0159|0.0079|0.0467|0.0256|0.02976|0.006361|0.01538|0.04379|0.004194|0.03733|0.0409|0.03386|0.02206|0.02948|0.006732|0.07363|0.02142|0.03487|0.005029|0.03885|0.0538|0.04476|0.02553|0.02808|0.07363|gnomADg_AMI|benign||1|25741868&18414213&31882771|||||||||,T|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000479707|retained_intron||||||||||rs113288277|1031|1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.0184|0.0008|0.0159|0.0079|0.0467|0.0256|0.02976|0.006361|0.01538|0.04379|0.004194|0.03733|0.0409|0.03386|0.02206|0.02948|0.006732|0.07363|0.02142|0.03487|0.005029|0.03885|0.0538|0.04476|0.02553|0.02808|0.07363|gnomADg_AMI|benign||1|25741868&18414213&31882771|||||||||,T|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000492947|retained_intron||||||||||rs113288277|4161|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.0184|0.0008|0.0159|0.0079|0.0467|0.0256|0.02976|0.006361|0.01538|0.04379|0.004194|0.03733|0.0409|0.03386|0.02206|0.02948|0.006732|0.07363|0.02142|0.03487|0.005029|0.03885|0.0538|0.04476|0.02553|0.02808|0.07363|gnomADg_AMI|benign||1|25741868&18414213&31882771|||||||||,T|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding|12/39||ENST00000620552.4:c.1769A>T|ENSP00000484607.1:p.Glu590Val|2233|1769|590|E/V|gAg/gTg|rs113288277||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1|deleterious_low_confidence(0)|possibly_damaging(0.83)||||0.0184|0.0008|0.0159|0.0079|0.0467|0.0256|0.02976|0.006361|0.01538|0.04379|0.004194|0.03733|0.0409|0.03386|0.02206|0.02948|0.006732|0.07363|0.02142|0.03487|0.005029|0.03885|0.0538|0.04476|0.02553|0.02808|0.07363|gnomADg_AMI|benign||1|25741868&18414213&31882771|||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding|11/38||ENST00000651234.1:c.1868A>T|ENSP00000499046.1:p.Glu623Val|2318|1868|623|E/V|gAg/gTg|rs113288277||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1|deleterious_low_confidence(0)|benign(0.301)||||0.0184|0.0008|0.0159|0.0079|0.0467|0.0256|0.02976|0.006361|0.01538|0.04379|0.004194|0.03733|0.0409|0.03386|0.02206|0.02948|0.006732|0.07363|0.02142|0.03487|0.005029|0.03885|0.0538|0.04476|0.02553|0.02808|0.07363|gnomADg_AMI|benign||1|25741868&18414213&31882771|||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding|11/35||ENST00000652369.1:c.1868A>T|ENSP00000498543.1:p.Glu623Val|2318|1868|623|E/V|gAg/gTg|rs113288277||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1|deleterious_low_confidence(0)|possibly_damaging(0.762)||||0.0184|0.0008|0.0159|0.0079|0.0467|0.0256|0.02976|0.006361|0.01538|0.04379|0.004194|0.03733|0.0409|0.03386|0.02206|0.02948|0.006732|0.07363|0.02142|0.03487|0.005029|0.03885|0.0538|0.04476|0.02553|0.02808|0.07363|gnomADg_AMI|benign||1|25741868&18414213&31882771|||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,0:0,1:0,0,1,1 -chr1 1044368 . A T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C4;DP=4;ECNT=1;GERMQ=52;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=122;POPAF=7.3;TLOD=14.21;SRC=custom;GRP=custom;CSQ=T|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding|12/36||ENST00000379370.7:c.2183A>T|ENSP00000368678.2:p.Glu728Val|2236|2183|728|E/V|gAg/gTg|rs113288277||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1|deleterious_low_confidence(0)|||||0.0184|0.0008|0.0159|0.0079|0.0467|0.0256|0.02976|0.006361|0.01538|0.04379|0.004194|0.03733|0.0409|0.03386|0.02206|0.02948|0.006732|0.07363|0.02142|0.03487|0.005029|0.03885|0.0538|0.04476|0.02553|0.02808|0.07363|gnomADg_AMI|benign||1|25741868&18414213&31882771|||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000466223|retained_intron||||||||||rs113288277|2833|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.0184|0.0008|0.0159|0.0079|0.0467|0.0256|0.02976|0.006361|0.01538|0.04379|0.004194|0.03733|0.0409|0.03386|0.02206|0.02948|0.006732|0.07363|0.02142|0.03487|0.005029|0.03885|0.0538|0.04476|0.02553|0.02808|0.07363|gnomADg_AMI|benign||1|25741868&18414213&31882771|||||||||,T|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||||||||||rs113288277|2971|1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.0184|0.0008|0.0159|0.0079|0.0467|0.0256|0.02976|0.006361|0.01538|0.04379|0.004194|0.03733|0.0409|0.03386|0.02206|0.02948|0.006732|0.07363|0.02142|0.03487|0.005029|0.03885|0.0538|0.04476|0.02553|0.02808|0.07363|gnomADg_AMI|benign||1|25741868&18414213&31882771|||||||||,T|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000478677|retained_intron||||||||||rs113288277|3107|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.0184|0.0008|0.0159|0.0079|0.0467|0.0256|0.02976|0.006361|0.01538|0.04379|0.004194|0.03733|0.0409|0.03386|0.02206|0.02948|0.006732|0.07363|0.02142|0.03487|0.005029|0.03885|0.0538|0.04476|0.02553|0.02808|0.07363|gnomADg_AMI|benign||1|25741868&18414213&31882771|||||||||,T|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000479707|retained_intron||||||||||rs113288277|1031|1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.0184|0.0008|0.0159|0.0079|0.0467|0.0256|0.02976|0.006361|0.01538|0.04379|0.004194|0.03733|0.0409|0.03386|0.02206|0.02948|0.006732|0.07363|0.02142|0.03487|0.005029|0.03885|0.0538|0.04476|0.02553|0.02808|0.07363|gnomADg_AMI|benign||1|25741868&18414213&31882771|||||||||,T|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000492947|retained_intron||||||||||rs113288277|4161|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.0184|0.0008|0.0159|0.0079|0.0467|0.0256|0.02976|0.006361|0.01538|0.04379|0.004194|0.03733|0.0409|0.03386|0.02206|0.02948|0.006732|0.07363|0.02142|0.03487|0.005029|0.03885|0.0538|0.04476|0.02553|0.02808|0.07363|gnomADg_AMI|benign||1|25741868&18414213&31882771|||||||||,T|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding|12/39||ENST00000620552.4:c.1769A>T|ENSP00000484607.1:p.Glu590Val|2233|1769|590|E/V|gAg/gTg|rs113288277||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1|deleterious_low_confidence(0)|possibly_damaging(0.83)||||0.0184|0.0008|0.0159|0.0079|0.0467|0.0256|0.02976|0.006361|0.01538|0.04379|0.004194|0.03733|0.0409|0.03386|0.02206|0.02948|0.006732|0.07363|0.02142|0.03487|0.005029|0.03885|0.0538|0.04476|0.02553|0.02808|0.07363|gnomADg_AMI|benign||1|25741868&18414213&31882771|||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding|11/38||ENST00000651234.1:c.1868A>T|ENSP00000499046.1:p.Glu623Val|2318|1868|623|E/V|gAg/gTg|rs113288277||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1|deleterious_low_confidence(0)|benign(0.301)||||0.0184|0.0008|0.0159|0.0079|0.0467|0.0256|0.02976|0.006361|0.01538|0.04379|0.004194|0.03733|0.0409|0.03386|0.02206|0.02948|0.006732|0.07363|0.02142|0.03487|0.005029|0.03885|0.0538|0.04476|0.02553|0.02808|0.07363|gnomADg_AMI|benign||1|25741868&18414213&31882771|||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding|11/35||ENST00000652369.1:c.1868A>T|ENSP00000498543.1:p.Glu623Val|2318|1868|623|E/V|gAg/gTg|rs113288277||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1|deleterious_low_confidence(0)|possibly_damaging(0.762)||||0.0184|0.0008|0.0159|0.0079|0.0467|0.0256|0.02976|0.006361|0.01538|0.04379|0.004194|0.03733|0.0409|0.03386|0.02206|0.02948|0.006732|0.07363|0.02142|0.03487|0.005029|0.03885|0.0538|0.04476|0.02553|0.02808|0.07363|gnomADg_AMI|benign||1|25741868&18414213&31882771|||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.833:4:0,4:0,0:0,4:0,0,0,4 -chr1 1045080 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=43;POPAF=7.3;TLOD=3.48;SRC=custom;GRP=custom;CSQ=A|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||12/35|ENST00000379370.7:c.2255-81G>A|||||||rs3128097||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.9119|0.7738|0.9323|0.999|0.9334|0.9724||||||||||0.8986|0.7947|0.9923|0.933|0.9243|0.9998|0.9598|0.9051|0.9293|0.9094|0.9625|0.9998|gnomADg_EAS|benign||1||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000466223|retained_intron||||||||||rs3128097|2121|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.9119|0.7738|0.9323|0.999|0.9334|0.9724||||||||||0.8986|0.7947|0.9923|0.933|0.9243|0.9998|0.9598|0.9051|0.9293|0.9094|0.9625|0.9998|gnomADg_EAS|benign||1||||||||||,A|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||||||||||rs3128097|3683|1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.9119|0.7738|0.9323|0.999|0.9334|0.9724||||||||||0.8986|0.7947|0.9923|0.933|0.9243|0.9998|0.9598|0.9051|0.9293|0.9094|0.9625|0.9998|gnomADg_EAS|benign||1||||||||||,A|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000478677|retained_intron||||||||||rs3128097|2395|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.9119|0.7738|0.9323|0.999|0.9334|0.9724||||||||||0.8986|0.7947|0.9923|0.933|0.9243|0.9998|0.9598|0.9051|0.9293|0.9094|0.9625|0.9998|gnomADg_EAS|benign||1||||||||||,A|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000479707|retained_intron||||||||||rs3128097|319|1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.9119|0.7738|0.9323|0.999|0.9334|0.9724||||||||||0.8986|0.7947|0.9923|0.933|0.9243|0.9998|0.9598|0.9051|0.9293|0.9094|0.9625|0.9998|gnomADg_EAS|benign||1||||||||||,A|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000492947|retained_intron||||||||||rs3128097|3449|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.9119|0.7738|0.9323|0.999|0.9334|0.9724||||||||||0.8986|0.7947|0.9923|0.933|0.9243|0.9998|0.9598|0.9051|0.9293|0.9094|0.9625|0.9998|gnomADg_EAS|benign||1||||||||||,A|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||12/38|ENST00000620552.4:c.1841-81G>A|||||||rs3128097||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.9119|0.7738|0.9323|0.999|0.9334|0.9724||||||||||0.8986|0.7947|0.9923|0.933|0.9243|0.9998|0.9598|0.9051|0.9293|0.9094|0.9625|0.9998|gnomADg_EAS|benign||1||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||11/37|ENST00000651234.1:c.1940-81G>A|||||||rs3128097||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.9119|0.7738|0.9323|0.999|0.9334|0.9724||||||||||0.8986|0.7947|0.9923|0.933|0.9243|0.9998|0.9598|0.9051|0.9293|0.9094|0.9625|0.9998|gnomADg_EAS|benign||1||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||11/34|ENST00000652369.1:c.1940-81G>A|||||||rs3128097||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.9119|0.7738|0.9323|0.999|0.9334|0.9724||||||||||0.8986|0.7947|0.9923|0.933|0.9243|0.9998|0.9598|0.9051|0.9293|0.9094|0.9625|0.9998|gnomADg_EAS|benign||1||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 1045080 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=3;ECNT=1;GERMQ=47;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=83;POPAF=7.3;TLOD=6.78;SRC=custom;GRP=custom;CSQ=A|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||12/35|ENST00000379370.7:c.2255-81G>A|||||||rs3128097||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.9119|0.7738|0.9323|0.999|0.9334|0.9724||||||||||0.8986|0.7947|0.9923|0.933|0.9243|0.9998|0.9598|0.9051|0.9293|0.9094|0.9625|0.9998|gnomADg_EAS|benign||1||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000466223|retained_intron||||||||||rs3128097|2121|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.9119|0.7738|0.9323|0.999|0.9334|0.9724||||||||||0.8986|0.7947|0.9923|0.933|0.9243|0.9998|0.9598|0.9051|0.9293|0.9094|0.9625|0.9998|gnomADg_EAS|benign||1||||||||||,A|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||||||||||rs3128097|3683|1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.9119|0.7738|0.9323|0.999|0.9334|0.9724||||||||||0.8986|0.7947|0.9923|0.933|0.9243|0.9998|0.9598|0.9051|0.9293|0.9094|0.9625|0.9998|gnomADg_EAS|benign||1||||||||||,A|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000478677|retained_intron||||||||||rs3128097|2395|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.9119|0.7738|0.9323|0.999|0.9334|0.9724||||||||||0.8986|0.7947|0.9923|0.933|0.9243|0.9998|0.9598|0.9051|0.9293|0.9094|0.9625|0.9998|gnomADg_EAS|benign||1||||||||||,A|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000479707|retained_intron||||||||||rs3128097|319|1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.9119|0.7738|0.9323|0.999|0.9334|0.9724||||||||||0.8986|0.7947|0.9923|0.933|0.9243|0.9998|0.9598|0.9051|0.9293|0.9094|0.9625|0.9998|gnomADg_EAS|benign||1||||||||||,A|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000492947|retained_intron||||||||||rs3128097|3449|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.9119|0.7738|0.9323|0.999|0.9334|0.9724||||||||||0.8986|0.7947|0.9923|0.933|0.9243|0.9998|0.9598|0.9051|0.9293|0.9094|0.9625|0.9998|gnomADg_EAS|benign||1||||||||||,A|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||12/38|ENST00000620552.4:c.1841-81G>A|||||||rs3128097||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.9119|0.7738|0.9323|0.999|0.9334|0.9724||||||||||0.8986|0.7947|0.9923|0.933|0.9243|0.9998|0.9598|0.9051|0.9293|0.9094|0.9625|0.9998|gnomADg_EAS|benign||1||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||11/37|ENST00000651234.1:c.1940-81G>A|||||||rs3128097||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.9119|0.7738|0.9323|0.999|0.9334|0.9724||||||||||0.8986|0.7947|0.9923|0.933|0.9243|0.9998|0.9598|0.9051|0.9293|0.9094|0.9625|0.9998|gnomADg_EAS|benign||1||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||11/34|ENST00000652369.1:c.1940-81G>A|||||||rs3128097||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.9119|0.7738|0.9323|0.999|0.9334|0.9724||||||||||0.8986|0.7947|0.9923|0.933|0.9243|0.9998|0.9598|0.9051|0.9293|0.9094|0.9625|0.9998|gnomADg_EAS|benign||1||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.684:2:0,0:0,1:0,1:0,0,1,1 -chr1 1045686 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=1%2C2|1%2C1;DP=5;ECNT=3;GERMQ=38;MBQ=35,29;MFRL=0,0;MMQ=60,60;MPOS=25;POPAF=7.3;TLOD=5.45;SRC=custom;GRP=custom;CSQ=A|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||14/35|ENST00000379370.7:c.2537-47G>A|||||||||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||||||||||||||||||||||||||||||||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000466223|retained_intron|||||||||||1515|1||SNV|HGNC|HGNC:329||||2||||||||1||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron|||||||||||4289|1||SNV|HGNC|HGNC:329||||3||||||||1||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000478677|retained_intron|||||||||||1789|1||SNV|HGNC|HGNC:329||||2||||||||1||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000479707|retained_intron||1/3|ENST00000479707.1:n.126-47G>A|||||||||1||SNV|HGNC|HGNC:329||||3||||||||1||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000492947|retained_intron|||||||||||2843|1||SNV|HGNC|HGNC:329||||2||||||||1||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||14/38|ENST00000620552.4:c.2123-47G>A|||||||||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||||||||||||||||||||||||||||||||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||13/37|ENST00000651234.1:c.2222-47G>A|||||||||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||||||||||||||||||||||||||||||||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||13/34|ENST00000652369.1:c.2222-47G>A|||||||||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||||||||||||||||||||||||||||||||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,2:0.4:5:1,0:1,1:2,1:1,2,1,1 -chr1 1045707 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=17;POPAF=7.3;TLOD=7.35;SRC=custom;GRP=custom;CSQ=G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||14/35|ENST00000379370.7:c.2537-26A>G|||||||rs3128098||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.8694|0.6225|0.9179|0.999|0.9304|0.9724|0.9206|0.6365|0.9462|0.9185|0.9999|0.9559|0.9247|0.9161|0.9552|0.8538|0.644|0.9923|0.9103|0.9165|0.9998|0.9596|0.8956|0.9278|0.8684|0.9617|0.9999|gnomADe_EAS|benign||1|25741868|||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000466223|retained_intron||||||||||rs3128098|1494|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.8694|0.6225|0.9179|0.999|0.9304|0.9724|0.9206|0.6365|0.9462|0.9185|0.9999|0.9559|0.9247|0.9161|0.9552|0.8538|0.644|0.9923|0.9103|0.9165|0.9998|0.9596|0.8956|0.9278|0.8684|0.9617|0.9999|gnomADe_EAS|benign||1|25741868|||||||||,G|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||||||||||rs3128098|4310|1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.8694|0.6225|0.9179|0.999|0.9304|0.9724|0.9206|0.6365|0.9462|0.9185|0.9999|0.9559|0.9247|0.9161|0.9552|0.8538|0.644|0.9923|0.9103|0.9165|0.9998|0.9596|0.8956|0.9278|0.8684|0.9617|0.9999|gnomADe_EAS|benign||1|25741868|||||||||,G|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000478677|retained_intron||||||||||rs3128098|1768|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.8694|0.6225|0.9179|0.999|0.9304|0.9724|0.9206|0.6365|0.9462|0.9185|0.9999|0.9559|0.9247|0.9161|0.9552|0.8538|0.644|0.9923|0.9103|0.9165|0.9998|0.9596|0.8956|0.9278|0.8684|0.9617|0.9999|gnomADe_EAS|benign||1|25741868|||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000479707|retained_intron||1/3|ENST00000479707.1:n.126-26A>G|||||||rs3128098||1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.8694|0.6225|0.9179|0.999|0.9304|0.9724|0.9206|0.6365|0.9462|0.9185|0.9999|0.9559|0.9247|0.9161|0.9552|0.8538|0.644|0.9923|0.9103|0.9165|0.9998|0.9596|0.8956|0.9278|0.8684|0.9617|0.9999|gnomADe_EAS|benign||1|25741868|||||||||,G|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000492947|retained_intron||||||||||rs3128098|2822|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.8694|0.6225|0.9179|0.999|0.9304|0.9724|0.9206|0.6365|0.9462|0.9185|0.9999|0.9559|0.9247|0.9161|0.9552|0.8538|0.644|0.9923|0.9103|0.9165|0.9998|0.9596|0.8956|0.9278|0.8684|0.9617|0.9999|gnomADe_EAS|benign||1|25741868|||||||||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||14/38|ENST00000620552.4:c.2123-26A>G|||||||rs3128098||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.8694|0.6225|0.9179|0.999|0.9304|0.9724|0.9206|0.6365|0.9462|0.9185|0.9999|0.9559|0.9247|0.9161|0.9552|0.8538|0.644|0.9923|0.9103|0.9165|0.9998|0.9596|0.8956|0.9278|0.8684|0.9617|0.9999|gnomADe_EAS|benign||1|25741868|||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||13/37|ENST00000651234.1:c.2222-26A>G|||||||rs3128098||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.8694|0.6225|0.9179|0.999|0.9304|0.9724|0.9206|0.6365|0.9462|0.9185|0.9999|0.9559|0.9247|0.9161|0.9552|0.8538|0.644|0.9923|0.9103|0.9165|0.9998|0.9596|0.8956|0.9278|0.8684|0.9617|0.9999|gnomADe_EAS|benign||1|25741868|||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||13/34|ENST00000652369.1:c.2222-26A>G|||||||rs3128098||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.8694|0.6225|0.9179|0.999|0.9304|0.9724|0.9206|0.6365|0.9462|0.9185|0.9999|0.9559|0.9247|0.9161|0.9552|0.8538|0.644|0.9923|0.9103|0.9165|0.9998|0.9596|0.8956|0.9278|0.8684|0.9617|0.9999|gnomADe_EAS|benign||1|25741868|||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1045707 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C3;DP=5;ECNT=3;GERMQ=55;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=26;POPAF=7.3;TLOD=18.15;SRC=custom;GRP=custom;CSQ=G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||14/35|ENST00000379370.7:c.2537-26A>G|||||||rs3128098||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.8694|0.6225|0.9179|0.999|0.9304|0.9724|0.9206|0.6365|0.9462|0.9185|0.9999|0.9559|0.9247|0.9161|0.9552|0.8538|0.644|0.9923|0.9103|0.9165|0.9998|0.9596|0.8956|0.9278|0.8684|0.9617|0.9999|gnomADe_EAS|benign||1|25741868|||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000466223|retained_intron||||||||||rs3128098|1494|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.8694|0.6225|0.9179|0.999|0.9304|0.9724|0.9206|0.6365|0.9462|0.9185|0.9999|0.9559|0.9247|0.9161|0.9552|0.8538|0.644|0.9923|0.9103|0.9165|0.9998|0.9596|0.8956|0.9278|0.8684|0.9617|0.9999|gnomADe_EAS|benign||1|25741868|||||||||,G|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||||||||||rs3128098|4310|1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.8694|0.6225|0.9179|0.999|0.9304|0.9724|0.9206|0.6365|0.9462|0.9185|0.9999|0.9559|0.9247|0.9161|0.9552|0.8538|0.644|0.9923|0.9103|0.9165|0.9998|0.9596|0.8956|0.9278|0.8684|0.9617|0.9999|gnomADe_EAS|benign||1|25741868|||||||||,G|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000478677|retained_intron||||||||||rs3128098|1768|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.8694|0.6225|0.9179|0.999|0.9304|0.9724|0.9206|0.6365|0.9462|0.9185|0.9999|0.9559|0.9247|0.9161|0.9552|0.8538|0.644|0.9923|0.9103|0.9165|0.9998|0.9596|0.8956|0.9278|0.8684|0.9617|0.9999|gnomADe_EAS|benign||1|25741868|||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000479707|retained_intron||1/3|ENST00000479707.1:n.126-26A>G|||||||rs3128098||1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.8694|0.6225|0.9179|0.999|0.9304|0.9724|0.9206|0.6365|0.9462|0.9185|0.9999|0.9559|0.9247|0.9161|0.9552|0.8538|0.644|0.9923|0.9103|0.9165|0.9998|0.9596|0.8956|0.9278|0.8684|0.9617|0.9999|gnomADe_EAS|benign||1|25741868|||||||||,G|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000492947|retained_intron||||||||||rs3128098|2822|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.8694|0.6225|0.9179|0.999|0.9304|0.9724|0.9206|0.6365|0.9462|0.9185|0.9999|0.9559|0.9247|0.9161|0.9552|0.8538|0.644|0.9923|0.9103|0.9165|0.9998|0.9596|0.8956|0.9278|0.8684|0.9617|0.9999|gnomADe_EAS|benign||1|25741868|||||||||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||14/38|ENST00000620552.4:c.2123-26A>G|||||||rs3128098||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.8694|0.6225|0.9179|0.999|0.9304|0.9724|0.9206|0.6365|0.9462|0.9185|0.9999|0.9559|0.9247|0.9161|0.9552|0.8538|0.644|0.9923|0.9103|0.9165|0.9998|0.9596|0.8956|0.9278|0.8684|0.9617|0.9999|gnomADe_EAS|benign||1|25741868|||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||13/37|ENST00000651234.1:c.2222-26A>G|||||||rs3128098||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.8694|0.6225|0.9179|0.999|0.9304|0.9724|0.9206|0.6365|0.9462|0.9185|0.9999|0.9559|0.9247|0.9161|0.9552|0.8538|0.644|0.9923|0.9103|0.9165|0.9998|0.9596|0.8956|0.9278|0.8684|0.9617|0.9999|gnomADe_EAS|benign||1|25741868|||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||13/34|ENST00000652369.1:c.2222-26A>G|||||||rs3128098||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.8694|0.6225|0.9179|0.999|0.9304|0.9724|0.9206|0.6365|0.9462|0.9185|0.9999|0.9559|0.9247|0.9161|0.9552|0.8538|0.644|0.9923|0.9103|0.9165|0.9998|0.9596|0.8956|0.9278|0.8684|0.9617|0.9999|gnomADe_EAS|benign||1|25741868|||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.8:5:0,0:0,2:0,3:0,0,2,3 -chr1 1045784 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=5%2C4|1%2C1;DP=11;ECNT=3;GERMQ=47;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=34;POPAF=7.3;TLOD=5.93;SRC=custom;GRP=custom;CSQ=T|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding|15/36||ENST00000379370.7:c.2588C>T|ENSP00000368678.2:p.Thr863Met|2641|2588|863|T/M|aCg/aTg|rs766149292&COSV65070431||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1|deleterious_low_confidence(0)|||||||||||1.596e-05|0|0|0|5.441e-05|0|2.651e-05|0|0||||||||||||5.441e-05|gnomADe_EAS||0&1|0&1||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000466223|retained_intron||||||||||rs766149292&COSV65070431|1417|1||SNV|HGNC|HGNC:329||||2||||||||1||||||||||||1.596e-05|0|0|0|5.441e-05|0|2.651e-05|0|0||||||||||||5.441e-05|gnomADe_EAS||0&1|0&1||||||||||,T|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||||||||||rs766149292&COSV65070431|4387|1||SNV|HGNC|HGNC:329||||3||||||||1||||||||||||1.596e-05|0|0|0|5.441e-05|0|2.651e-05|0|0||||||||||||5.441e-05|gnomADe_EAS||0&1|0&1||||||||||,T|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000478677|retained_intron||||||||||rs766149292&COSV65070431|1691|1||SNV|HGNC|HGNC:329||||2||||||||1||||||||||||1.596e-05|0|0|0|5.441e-05|0|2.651e-05|0|0||||||||||||5.441e-05|gnomADe_EAS||0&1|0&1||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000479707|retained_intron|2/4||ENST00000479707.1:n.177C>T||177|||||rs766149292&COSV65070431||1||SNV|HGNC|HGNC:329||||3||||||||1||||||||||||1.596e-05|0|0|0|5.441e-05|0|2.651e-05|0|0||||||||||||5.441e-05|gnomADe_EAS||0&1|0&1||||||||||,T|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000492947|retained_intron||||||||||rs766149292&COSV65070431|2745|1||SNV|HGNC|HGNC:329||||2||||||||1||||||||||||1.596e-05|0|0|0|5.441e-05|0|2.651e-05|0|0||||||||||||5.441e-05|gnomADe_EAS||0&1|0&1||||||||||,T|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding|15/39||ENST00000620552.4:c.2174C>T|ENSP00000484607.1:p.Thr725Met|2638|2174|725|T/M|aCg/aTg|rs766149292&COSV65070431||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1|deleterious_low_confidence(0)|probably_damaging(0.949)||||||||||1.596e-05|0|0|0|5.441e-05|0|2.651e-05|0|0||||||||||||5.441e-05|gnomADe_EAS||0&1|0&1||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding|14/38||ENST00000651234.1:c.2273C>T|ENSP00000499046.1:p.Thr758Met|2723|2273|758|T/M|aCg/aTg|rs766149292&COSV65070431||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1|deleterious_low_confidence(0)|probably_damaging(0.919)||||||||||1.596e-05|0|0|0|5.441e-05|0|2.651e-05|0|0||||||||||||5.441e-05|gnomADe_EAS||0&1|0&1||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding|14/35||ENST00000652369.1:c.2273C>T|ENSP00000498543.1:p.Thr758Met|2723|2273|758|T/M|aCg/aTg|rs766149292&COSV65070431||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1|deleterious_low_confidence(0)|probably_damaging(0.938)||||||||||1.596e-05|0|0|0|5.441e-05|0|2.651e-05|0|0||||||||||||5.441e-05|gnomADe_EAS||0&1|0&1||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:9,2:0.25:11:0,0:5,1:5,1:5,4,1,1 -chr1 1046488 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=10%2C14|1%2C1;DP=26;ECNT=2;GERMQ=81;MBQ=32,31;MFRL=0,0;MMQ=60,60;MPOS=64;POPAF=7.3;TLOD=4.77;SRC=custom;GRP=custom;CSQ=T|synonymous_variant|LOW|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding|18/36||ENST00000379370.7:c.3003C>T|ENSP00000368678.2:p.Pro1001%3D|3056|3003|1001|P|ccC/ccT|rs375208869&COSV101038541&COSV65067996||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.0006|0.0008|0|0|0|0.002|0.0003764|0.0002036|8.778e-05|0|0|0|0.0002683|0.0001704|0.00181|0.0001972|9.653e-05|0|6.55e-05|0|0|0|0|0.0002647|0|0.00145|0.002|SAS|likely_benign|0&1&1|1&1&1|25741868|||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000466223|retained_intron||||||||||rs375208869&COSV101038541&COSV65067996|713|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.0006|0.0008|0|0|0|0.002|0.0003764|0.0002036|8.778e-05|0|0|0|0.0002683|0.0001704|0.00181|0.0001972|9.653e-05|0|6.55e-05|0|0|0|0|0.0002647|0|0.00145|0.002|SAS|likely_benign|0&1&1|1&1&1|25741868|||||||||,T|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000478677|retained_intron||||||||||rs375208869&COSV101038541&COSV65067996|987|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.0006|0.0008|0|0|0|0.002|0.0003764|0.0002036|8.778e-05|0|0|0|0.0002683|0.0001704|0.00181|0.0001972|9.653e-05|0|6.55e-05|0|0|0|0|0.0002647|0|0.00145|0.002|SAS|likely_benign|0&1&1|1&1&1|25741868|||||||||,T|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000479707|retained_intron||||||||||rs375208869&COSV101038541&COSV65067996|139|1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.0006|0.0008|0|0|0|0.002|0.0003764|0.0002036|8.778e-05|0|0|0|0.0002683|0.0001704|0.00181|0.0001972|9.653e-05|0|6.55e-05|0|0|0|0|0.0002647|0|0.00145|0.002|SAS|likely_benign|0&1&1|1&1&1|25741868|||||||||,T|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000492947|retained_intron||||||||||rs375208869&COSV101038541&COSV65067996|2041|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.0006|0.0008|0|0|0|0.002|0.0003764|0.0002036|8.778e-05|0|0|0|0.0002683|0.0001704|0.00181|0.0001972|9.653e-05|0|6.55e-05|0|0|0|0|0.0002647|0|0.00145|0.002|SAS|likely_benign|0&1&1|1&1&1|25741868|||||||||,T|synonymous_variant|LOW|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding|18/39||ENST00000620552.4:c.2589C>T|ENSP00000484607.1:p.Pro863%3D|3053|2589|863|P|ccC/ccT|rs375208869&COSV101038541&COSV65067996||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.0006|0.0008|0|0|0|0.002|0.0003764|0.0002036|8.778e-05|0|0|0|0.0002683|0.0001704|0.00181|0.0001972|9.653e-05|0|6.55e-05|0|0|0|0|0.0002647|0|0.00145|0.002|SAS|likely_benign|0&1&1|1&1&1|25741868|||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|synonymous_variant|LOW|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding|17/38||ENST00000651234.1:c.2688C>T|ENSP00000499046.1:p.Pro896%3D|3138|2688|896|P|ccC/ccT|rs375208869&COSV101038541&COSV65067996||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.0006|0.0008|0|0|0|0.002|0.0003764|0.0002036|8.778e-05|0|0|0|0.0002683|0.0001704|0.00181|0.0001972|9.653e-05|0|6.55e-05|0|0|0|0|0.0002647|0|0.00145|0.002|SAS|likely_benign|0&1&1|1&1&1|25741868|||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|synonymous_variant|LOW|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding|17/35||ENST00000652369.1:c.2688C>T|ENSP00000498543.1:p.Pro896%3D|3138|2688|896|P|ccC/ccT|rs375208869&COSV101038541&COSV65067996||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.0006|0.0008|0|0|0|0.002|0.0003764|0.0002036|8.778e-05|0|0|0|0.0002683|0.0001704|0.00181|0.0001972|9.653e-05|0|6.55e-05|0|0|0|0|0.0002647|0|0.00145|0.002|SAS|likely_benign|0&1&1|1&1&1|25741868|||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:24,2:0.118:26:3,0:10,1:14,1:10,14,1,1 -chr1 1046551 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C4;DP=12;ECNT=2;GERMQ=60;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=127;POPAF=7.3;TLOD=24.93;SRC=custom;GRP=custom;CSQ=G|synonymous_variant|LOW|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding|18/36||ENST00000379370.7:c.3066A>G|ENSP00000368678.2:p.Ser1022%3D|3119|3066|1022|S|tcA/tcG|rs2465128&COSV65068047||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.7977|0.4554|0.8905|0.9633|0.9125|0.9059|0.8865|0.4974|0.9296|0.8885|0.9677|0.9316|0.9059|0.8841|0.8885|0.8016|0.5141|0.9857|0.8811|0.8928|0.9618|0.9361|0.8513|0.9099|0.8241|0.8918|0.9857|gnomADg_AMI|benign|0&1|1&1|25741868&18414213|||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000466223|retained_intron||||||||||rs2465128&COSV65068047|650|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.7977|0.4554|0.8905|0.9633|0.9125|0.9059|0.8865|0.4974|0.9296|0.8885|0.9677|0.9316|0.9059|0.8841|0.8885|0.8016|0.5141|0.9857|0.8811|0.8928|0.9618|0.9361|0.8513|0.9099|0.8241|0.8918|0.9857|gnomADg_AMI|benign|0&1|1&1|25741868&18414213|||||||||,G|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000478677|retained_intron||||||||||rs2465128&COSV65068047|924|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.7977|0.4554|0.8905|0.9633|0.9125|0.9059|0.8865|0.4974|0.9296|0.8885|0.9677|0.9316|0.9059|0.8841|0.8885|0.8016|0.5141|0.9857|0.8811|0.8928|0.9618|0.9361|0.8513|0.9099|0.8241|0.8918|0.9857|gnomADg_AMI|benign|0&1|1&1|25741868&18414213|||||||||,G|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000479707|retained_intron||||||||||rs2465128&COSV65068047|202|1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.7977|0.4554|0.8905|0.9633|0.9125|0.9059|0.8865|0.4974|0.9296|0.8885|0.9677|0.9316|0.9059|0.8841|0.8885|0.8016|0.5141|0.9857|0.8811|0.8928|0.9618|0.9361|0.8513|0.9099|0.8241|0.8918|0.9857|gnomADg_AMI|benign|0&1|1&1|25741868&18414213|||||||||,G|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000492947|retained_intron||||||||||rs2465128&COSV65068047|1978|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.7977|0.4554|0.8905|0.9633|0.9125|0.9059|0.8865|0.4974|0.9296|0.8885|0.9677|0.9316|0.9059|0.8841|0.8885|0.8016|0.5141|0.9857|0.8811|0.8928|0.9618|0.9361|0.8513|0.9099|0.8241|0.8918|0.9857|gnomADg_AMI|benign|0&1|1&1|25741868&18414213|||||||||,G|synonymous_variant|LOW|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding|18/39||ENST00000620552.4:c.2652A>G|ENSP00000484607.1:p.Ser884%3D|3116|2652|884|S|tcA/tcG|rs2465128&COSV65068047||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.7977|0.4554|0.8905|0.9633|0.9125|0.9059|0.8865|0.4974|0.9296|0.8885|0.9677|0.9316|0.9059|0.8841|0.8885|0.8016|0.5141|0.9857|0.8811|0.8928|0.9618|0.9361|0.8513|0.9099|0.8241|0.8918|0.9857|gnomADg_AMI|benign|0&1|1&1|25741868&18414213|||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|synonymous_variant|LOW|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding|17/38||ENST00000651234.1:c.2751A>G|ENSP00000499046.1:p.Ser917%3D|3201|2751|917|S|tcA/tcG|rs2465128&COSV65068047||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.7977|0.4554|0.8905|0.9633|0.9125|0.9059|0.8865|0.4974|0.9296|0.8885|0.9677|0.9316|0.9059|0.8841|0.8885|0.8016|0.5141|0.9857|0.8811|0.8928|0.9618|0.9361|0.8513|0.9099|0.8241|0.8918|0.9857|gnomADg_AMI|benign|0&1|1&1|25741868&18414213|||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|synonymous_variant|LOW|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding|17/35||ENST00000652369.1:c.2751A>G|ENSP00000498543.1:p.Ser917%3D|3201|2751|917|S|tcA/tcG|rs2465128&COSV65068047||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.7977|0.4554|0.8905|0.9633|0.9125|0.9059|0.8865|0.4974|0.9296|0.8885|0.9677|0.9316|0.9059|0.8841|0.8885|0.8016|0.5141|0.9857|0.8811|0.8928|0.9618|0.9361|0.8513|0.9099|0.8241|0.8918|0.9857|gnomADg_AMI|benign|0&1|1&1|25741868&18414213|||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,7:0.876:7:0,0:0,3:0,5:0,0,3,4 -chr1 1046551 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C5;DP=10;ECNT=1;GERMQ=64;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=98;POPAF=7.3;TLOD=29.77;SRC=custom;GRP=custom;CSQ=G|synonymous_variant|LOW|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding|18/36||ENST00000379370.7:c.3066A>G|ENSP00000368678.2:p.Ser1022%3D|3119|3066|1022|S|tcA/tcG|rs2465128&COSV65068047||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.7977|0.4554|0.8905|0.9633|0.9125|0.9059|0.8865|0.4974|0.9296|0.8885|0.9677|0.9316|0.9059|0.8841|0.8885|0.8016|0.5141|0.9857|0.8811|0.8928|0.9618|0.9361|0.8513|0.9099|0.8241|0.8918|0.9857|gnomADg_AMI|benign|0&1|1&1|25741868&18414213|||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000466223|retained_intron||||||||||rs2465128&COSV65068047|650|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.7977|0.4554|0.8905|0.9633|0.9125|0.9059|0.8865|0.4974|0.9296|0.8885|0.9677|0.9316|0.9059|0.8841|0.8885|0.8016|0.5141|0.9857|0.8811|0.8928|0.9618|0.9361|0.8513|0.9099|0.8241|0.8918|0.9857|gnomADg_AMI|benign|0&1|1&1|25741868&18414213|||||||||,G|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000478677|retained_intron||||||||||rs2465128&COSV65068047|924|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.7977|0.4554|0.8905|0.9633|0.9125|0.9059|0.8865|0.4974|0.9296|0.8885|0.9677|0.9316|0.9059|0.8841|0.8885|0.8016|0.5141|0.9857|0.8811|0.8928|0.9618|0.9361|0.8513|0.9099|0.8241|0.8918|0.9857|gnomADg_AMI|benign|0&1|1&1|25741868&18414213|||||||||,G|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000479707|retained_intron||||||||||rs2465128&COSV65068047|202|1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.7977|0.4554|0.8905|0.9633|0.9125|0.9059|0.8865|0.4974|0.9296|0.8885|0.9677|0.9316|0.9059|0.8841|0.8885|0.8016|0.5141|0.9857|0.8811|0.8928|0.9618|0.9361|0.8513|0.9099|0.8241|0.8918|0.9857|gnomADg_AMI|benign|0&1|1&1|25741868&18414213|||||||||,G|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000492947|retained_intron||||||||||rs2465128&COSV65068047|1978|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.7977|0.4554|0.8905|0.9633|0.9125|0.9059|0.8865|0.4974|0.9296|0.8885|0.9677|0.9316|0.9059|0.8841|0.8885|0.8016|0.5141|0.9857|0.8811|0.8928|0.9618|0.9361|0.8513|0.9099|0.8241|0.8918|0.9857|gnomADg_AMI|benign|0&1|1&1|25741868&18414213|||||||||,G|synonymous_variant|LOW|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding|18/39||ENST00000620552.4:c.2652A>G|ENSP00000484607.1:p.Ser884%3D|3116|2652|884|S|tcA/tcG|rs2465128&COSV65068047||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.7977|0.4554|0.8905|0.9633|0.9125|0.9059|0.8865|0.4974|0.9296|0.8885|0.9677|0.9316|0.9059|0.8841|0.8885|0.8016|0.5141|0.9857|0.8811|0.8928|0.9618|0.9361|0.8513|0.9099|0.8241|0.8918|0.9857|gnomADg_AMI|benign|0&1|1&1|25741868&18414213|||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|synonymous_variant|LOW|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding|17/38||ENST00000651234.1:c.2751A>G|ENSP00000499046.1:p.Ser917%3D|3201|2751|917|S|tcA/tcG|rs2465128&COSV65068047||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.7977|0.4554|0.8905|0.9633|0.9125|0.9059|0.8865|0.4974|0.9296|0.8885|0.9677|0.9316|0.9059|0.8841|0.8885|0.8016|0.5141|0.9857|0.8811|0.8928|0.9618|0.9361|0.8513|0.9099|0.8241|0.8918|0.9857|gnomADg_AMI|benign|0&1|1&1|25741868&18414213|||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|synonymous_variant|LOW|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding|17/35||ENST00000652369.1:c.2751A>G|ENSP00000498543.1:p.Ser917%3D|3201|2751|917|S|tcA/tcG|rs2465128&COSV65068047||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.7977|0.4554|0.8905|0.9633|0.9125|0.9059|0.8865|0.4974|0.9296|0.8885|0.9677|0.9316|0.9059|0.8841|0.8885|0.8016|0.5141|0.9857|0.8811|0.8928|0.9618|0.9361|0.8513|0.9099|0.8241|0.8918|0.9857|gnomADg_AMI|benign|0&1|1&1|25741868&18414213|||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.897:8:0,4:0,3:0,7:0,0,3,5 -chr1 1047064 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|5%2C6;DP=11;ECNT=3;GERMQ=72;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=86;POPAF=7.3;TLOD=40.34;SRC=custom;GRP=custom;CSQ=G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||19/35|ENST00000379370.7:c.3388+107A>G|||||||rs3128099||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.8219|0.4894|0.9049|0.9722|0.9185|0.9581||||||||||0.8173|0.5436|0.9857|0.8928|0.9202|0.9679|0.9402|0.8861|0.9181|0.8416|0.9477|0.9857|gnomADg_AMI|benign||1||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000461111|retained_intron||||||||||rs3128099|4922|1||SNV|HGNC|HGNC:329||||1||||||||1||||||0.8219|0.4894|0.9049|0.9722|0.9185|0.9581||||||||||0.8173|0.5436|0.9857|0.8928|0.9202|0.9679|0.9402|0.8861|0.9181|0.8416|0.9477|0.9857|gnomADg_AMI|benign||1||||||||||,G|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000466223|retained_intron||||||||||rs3128099|137|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.8219|0.4894|0.9049|0.9722|0.9185|0.9581||||||||||0.8173|0.5436|0.9857|0.8928|0.9202|0.9679|0.9402|0.8861|0.9181|0.8416|0.9477|0.9857|gnomADg_AMI|benign||1||||||||||,G|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000478677|retained_intron||||||||||rs3128099|411|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.8219|0.4894|0.9049|0.9722|0.9185|0.9581||||||||||0.8173|0.5436|0.9857|0.8928|0.9202|0.9679|0.9402|0.8861|0.9181|0.8416|0.9477|0.9857|gnomADg_AMI|benign||1||||||||||,G|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000479707|retained_intron||||||||||rs3128099|715|1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.8219|0.4894|0.9049|0.9722|0.9185|0.9581||||||||||0.8173|0.5436|0.9857|0.8928|0.9202|0.9679|0.9402|0.8861|0.9181|0.8416|0.9477|0.9857|gnomADg_AMI|benign||1||||||||||,G|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000492947|retained_intron||||||||||rs3128099|1465|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.8219|0.4894|0.9049|0.9722|0.9185|0.9581||||||||||0.8173|0.5436|0.9857|0.8928|0.9202|0.9679|0.9402|0.8861|0.9181|0.8416|0.9477|0.9857|gnomADg_AMI|benign||1||||||||||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||19/38|ENST00000620552.4:c.2974+107A>G|||||||rs3128099||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.8219|0.4894|0.9049|0.9722|0.9185|0.9581||||||||||0.8173|0.5436|0.9857|0.8928|0.9202|0.9679|0.9402|0.8861|0.9181|0.8416|0.9477|0.9857|gnomADg_AMI|benign||1||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||18/37|ENST00000651234.1:c.3073+107A>G|||||||rs3128099||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.8219|0.4894|0.9049|0.9722|0.9185|0.9581||||||||||0.8173|0.5436|0.9857|0.8928|0.9202|0.9679|0.9402|0.8861|0.9181|0.8416|0.9477|0.9857|gnomADg_AMI|benign||1||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||18/34|ENST00000652369.1:c.3073+107A>G|||||||rs3128099||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.8219|0.4894|0.9049|0.9722|0.9185|0.9581||||||||||0.8173|0.5436|0.9857|0.8928|0.9202|0.9679|0.9402|0.8861|0.9181|0.8416|0.9477|0.9857|gnomADg_AMI|benign||1||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,11:0.888:11:0,1:0,5:0,7:0,0,5,6 -chr1 1047064 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C3;DP=7;ECNT=3;GERMQ=61;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=51;POPAF=7.3;TLOD=25.74;SRC=custom;GRP=custom;CSQ=G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||19/35|ENST00000379370.7:c.3388+107A>G|||||||rs3128099||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.8219|0.4894|0.9049|0.9722|0.9185|0.9581||||||||||0.8173|0.5436|0.9857|0.8928|0.9202|0.9679|0.9402|0.8861|0.9181|0.8416|0.9477|0.9857|gnomADg_AMI|benign||1||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000461111|retained_intron||||||||||rs3128099|4922|1||SNV|HGNC|HGNC:329||||1||||||||1||||||0.8219|0.4894|0.9049|0.9722|0.9185|0.9581||||||||||0.8173|0.5436|0.9857|0.8928|0.9202|0.9679|0.9402|0.8861|0.9181|0.8416|0.9477|0.9857|gnomADg_AMI|benign||1||||||||||,G|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000466223|retained_intron||||||||||rs3128099|137|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.8219|0.4894|0.9049|0.9722|0.9185|0.9581||||||||||0.8173|0.5436|0.9857|0.8928|0.9202|0.9679|0.9402|0.8861|0.9181|0.8416|0.9477|0.9857|gnomADg_AMI|benign||1||||||||||,G|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000478677|retained_intron||||||||||rs3128099|411|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.8219|0.4894|0.9049|0.9722|0.9185|0.9581||||||||||0.8173|0.5436|0.9857|0.8928|0.9202|0.9679|0.9402|0.8861|0.9181|0.8416|0.9477|0.9857|gnomADg_AMI|benign||1||||||||||,G|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000479707|retained_intron||||||||||rs3128099|715|1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.8219|0.4894|0.9049|0.9722|0.9185|0.9581||||||||||0.8173|0.5436|0.9857|0.8928|0.9202|0.9679|0.9402|0.8861|0.9181|0.8416|0.9477|0.9857|gnomADg_AMI|benign||1||||||||||,G|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000492947|retained_intron||||||||||rs3128099|1465|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.8219|0.4894|0.9049|0.9722|0.9185|0.9581||||||||||0.8173|0.5436|0.9857|0.8928|0.9202|0.9679|0.9402|0.8861|0.9181|0.8416|0.9477|0.9857|gnomADg_AMI|benign||1||||||||||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||19/38|ENST00000620552.4:c.2974+107A>G|||||||rs3128099||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.8219|0.4894|0.9049|0.9722|0.9185|0.9581||||||||||0.8173|0.5436|0.9857|0.8928|0.9202|0.9679|0.9402|0.8861|0.9181|0.8416|0.9477|0.9857|gnomADg_AMI|benign||1||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||18/37|ENST00000651234.1:c.3073+107A>G|||||||rs3128099||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.8219|0.4894|0.9049|0.9722|0.9185|0.9581||||||||||0.8173|0.5436|0.9857|0.8928|0.9202|0.9679|0.9402|0.8861|0.9181|0.8416|0.9477|0.9857|gnomADg_AMI|benign||1||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||18/34|ENST00000652369.1:c.3073+107A>G|||||||rs3128099||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.8219|0.4894|0.9049|0.9722|0.9185|0.9581||||||||||0.8173|0.5436|0.9857|0.8928|0.9202|0.9679|0.9402|0.8861|0.9181|0.8416|0.9477|0.9857|gnomADg_AMI|benign||1||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,7:0.833:7:0,0:0,4:0,4:0,0,4,3 -chr1 1047082 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C4;DP=10;ECNT=3;GERMQ=58;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=104;POPAF=7.3;TLOD=18.91;SRC=custom;GRP=custom;CSQ=C|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||19/35|ENST00000379370.7:c.3388+125T>C|||||||rs3128100||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.9808|0.938|0.9841|1|0.997|1||||||||||0.9859|0.9538|1|0.9909|1|0.9998|1|0.9905|0.9991|0.9885|0.999|1|EAS&SAS&gnomADg_AMI&gnomADg_ASJ&gnomADg_FIN|benign||1||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000461111|retained_intron||||||||||rs3128100|4904|1||SNV|HGNC|HGNC:329||||1||||||||1||||||0.9808|0.938|0.9841|1|0.997|1||||||||||0.9859|0.9538|1|0.9909|1|0.9998|1|0.9905|0.9991|0.9885|0.999|1|EAS&SAS&gnomADg_AMI&gnomADg_ASJ&gnomADg_FIN|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000466223|retained_intron||||||||||rs3128100|119|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.9808|0.938|0.9841|1|0.997|1||||||||||0.9859|0.9538|1|0.9909|1|0.9998|1|0.9905|0.9991|0.9885|0.999|1|EAS&SAS&gnomADg_AMI&gnomADg_ASJ&gnomADg_FIN|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000478677|retained_intron||||||||||rs3128100|393|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.9808|0.938|0.9841|1|0.997|1||||||||||0.9859|0.9538|1|0.9909|1|0.9998|1|0.9905|0.9991|0.9885|0.999|1|EAS&SAS&gnomADg_AMI&gnomADg_ASJ&gnomADg_FIN|benign||1||||||||||,C|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000479707|retained_intron||||||||||rs3128100|733|1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.9808|0.938|0.9841|1|0.997|1||||||||||0.9859|0.9538|1|0.9909|1|0.9998|1|0.9905|0.9991|0.9885|0.999|1|EAS&SAS&gnomADg_AMI&gnomADg_ASJ&gnomADg_FIN|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000492947|retained_intron||||||||||rs3128100|1447|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.9808|0.938|0.9841|1|0.997|1||||||||||0.9859|0.9538|1|0.9909|1|0.9998|1|0.9905|0.9991|0.9885|0.999|1|EAS&SAS&gnomADg_AMI&gnomADg_ASJ&gnomADg_FIN|benign||1||||||||||,C|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||19/38|ENST00000620552.4:c.2974+125T>C|||||||rs3128100||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.9808|0.938|0.9841|1|0.997|1||||||||||0.9859|0.9538|1|0.9909|1|0.9998|1|0.9905|0.9991|0.9885|0.999|1|EAS&SAS&gnomADg_AMI&gnomADg_ASJ&gnomADg_FIN|benign||1||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||18/37|ENST00000651234.1:c.3073+125T>C|||||||rs3128100||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.9808|0.938|0.9841|1|0.997|1||||||||||0.9859|0.9538|1|0.9909|1|0.9998|1|0.9905|0.9991|0.9885|0.999|1|EAS&SAS&gnomADg_AMI&gnomADg_ASJ&gnomADg_FIN|benign||1||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||18/34|ENST00000652369.1:c.3073+125T>C|||||||rs3128100||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.9808|0.938|0.9841|1|0.997|1||||||||||0.9859|0.9538|1|0.9909|1|0.9998|1|0.9905|0.9991|0.9885|0.999|1|EAS&SAS&gnomADg_AMI&gnomADg_ASJ&gnomADg_FIN|benign||1||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.867:6:0,1:0,2:0,5:0,0,2,4 -chr1 1047082 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|5%2C4;DP=10;ECNT=3;GERMQ=67;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=69;POPAF=7.3;TLOD=29.89;SRC=custom;GRP=custom;CSQ=C|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||19/35|ENST00000379370.7:c.3388+125T>C|||||||rs3128100||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.9808|0.938|0.9841|1|0.997|1||||||||||0.9859|0.9538|1|0.9909|1|0.9998|1|0.9905|0.9991|0.9885|0.999|1|EAS&SAS&gnomADg_AMI&gnomADg_ASJ&gnomADg_FIN|benign||1||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000461111|retained_intron||||||||||rs3128100|4904|1||SNV|HGNC|HGNC:329||||1||||||||1||||||0.9808|0.938|0.9841|1|0.997|1||||||||||0.9859|0.9538|1|0.9909|1|0.9998|1|0.9905|0.9991|0.9885|0.999|1|EAS&SAS&gnomADg_AMI&gnomADg_ASJ&gnomADg_FIN|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000466223|retained_intron||||||||||rs3128100|119|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.9808|0.938|0.9841|1|0.997|1||||||||||0.9859|0.9538|1|0.9909|1|0.9998|1|0.9905|0.9991|0.9885|0.999|1|EAS&SAS&gnomADg_AMI&gnomADg_ASJ&gnomADg_FIN|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000478677|retained_intron||||||||||rs3128100|393|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.9808|0.938|0.9841|1|0.997|1||||||||||0.9859|0.9538|1|0.9909|1|0.9998|1|0.9905|0.9991|0.9885|0.999|1|EAS&SAS&gnomADg_AMI&gnomADg_ASJ&gnomADg_FIN|benign||1||||||||||,C|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000479707|retained_intron||||||||||rs3128100|733|1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.9808|0.938|0.9841|1|0.997|1||||||||||0.9859|0.9538|1|0.9909|1|0.9998|1|0.9905|0.9991|0.9885|0.999|1|EAS&SAS&gnomADg_AMI&gnomADg_ASJ&gnomADg_FIN|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000492947|retained_intron||||||||||rs3128100|1447|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.9808|0.938|0.9841|1|0.997|1||||||||||0.9859|0.9538|1|0.9909|1|0.9998|1|0.9905|0.9991|0.9885|0.999|1|EAS&SAS&gnomADg_AMI&gnomADg_ASJ&gnomADg_FIN|benign||1||||||||||,C|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||19/38|ENST00000620552.4:c.2974+125T>C|||||||rs3128100||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.9808|0.938|0.9841|1|0.997|1||||||||||0.9859|0.9538|1|0.9909|1|0.9998|1|0.9905|0.9991|0.9885|0.999|1|EAS&SAS&gnomADg_AMI&gnomADg_ASJ&gnomADg_FIN|benign||1||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||18/37|ENST00000651234.1:c.3073+125T>C|||||||rs3128100||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.9808|0.938|0.9841|1|0.997|1||||||||||0.9859|0.9538|1|0.9909|1|0.9998|1|0.9905|0.9991|0.9885|0.999|1|EAS&SAS&gnomADg_AMI&gnomADg_ASJ&gnomADg_FIN|benign||1||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||18/34|ENST00000652369.1:c.3073+125T>C|||||||rs3128100||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.9808|0.938|0.9841|1|0.997|1||||||||||0.9859|0.9538|1|0.9909|1|0.9998|1|0.9905|0.9991|0.9885|0.999|1|EAS&SAS&gnomADg_AMI&gnomADg_ASJ&gnomADg_FIN|benign||1||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,9:0.857:9:0,0:0,5:0,5:0,0,5,4 -chr1 1047133 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=3;GERMQ=52;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=52;POPAF=7.3;TLOD=14.61;SRC=custom;GRP=custom;CSQ=C|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||19/35|ENST00000379370.7:c.3388+176T>C|||||||rs3128101||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.9287|0.8343|0.938|0.999|0.9334|0.9724||||||||||0.9129|0.8451|0.9923|0.9367|0.9283|0.9998|0.9596|0.9082|0.9293|0.9178|0.9632|0.9998|gnomADg_EAS|benign||1||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000461111|retained_intron||||||||||rs3128101|4853|1||SNV|HGNC|HGNC:329||||1||||||||1||||||0.9287|0.8343|0.938|0.999|0.9334|0.9724||||||||||0.9129|0.8451|0.9923|0.9367|0.9283|0.9998|0.9596|0.9082|0.9293|0.9178|0.9632|0.9998|gnomADg_EAS|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000466223|retained_intron||||||||||rs3128101|68|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.9287|0.8343|0.938|0.999|0.9334|0.9724||||||||||0.9129|0.8451|0.9923|0.9367|0.9283|0.9998|0.9596|0.9082|0.9293|0.9178|0.9632|0.9998|gnomADg_EAS|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000478677|retained_intron||||||||||rs3128101|342|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.9287|0.8343|0.938|0.999|0.9334|0.9724||||||||||0.9129|0.8451|0.9923|0.9367|0.9283|0.9998|0.9596|0.9082|0.9293|0.9178|0.9632|0.9998|gnomADg_EAS|benign||1||||||||||,C|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000479707|retained_intron||||||||||rs3128101|784|1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.9287|0.8343|0.938|0.999|0.9334|0.9724||||||||||0.9129|0.8451|0.9923|0.9367|0.9283|0.9998|0.9596|0.9082|0.9293|0.9178|0.9632|0.9998|gnomADg_EAS|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000492947|retained_intron||||||||||rs3128101|1396|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.9287|0.8343|0.938|0.999|0.9334|0.9724||||||||||0.9129|0.8451|0.9923|0.9367|0.9283|0.9998|0.9596|0.9082|0.9293|0.9178|0.9632|0.9998|gnomADg_EAS|benign||1||||||||||,C|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||19/38|ENST00000620552.4:c.2974+176T>C|||||||rs3128101||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.9287|0.8343|0.938|0.999|0.9334|0.9724||||||||||0.9129|0.8451|0.9923|0.9367|0.9283|0.9998|0.9596|0.9082|0.9293|0.9178|0.9632|0.9998|gnomADg_EAS|benign||1||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||18/37|ENST00000651234.1:c.3073+176T>C|||||||rs3128101||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.9287|0.8343|0.938|0.999|0.9334|0.9724||||||||||0.9129|0.8451|0.9923|0.9367|0.9283|0.9998|0.9596|0.9082|0.9293|0.9178|0.9632|0.9998|gnomADg_EAS|benign||1||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||18/34|ENST00000652369.1:c.3073+176T>C|||||||rs3128101||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.9287|0.8343|0.938|0.999|0.9334|0.9724||||||||||0.9129|0.8451|0.9923|0.9367|0.9283|0.9998|0.9596|0.9082|0.9293|0.9178|0.9632|0.9998|gnomADg_EAS|benign||1||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.8:4:0,1:0,2:0,3:0,0,2,2 -chr1 1047133 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C4;DP=9;ECNT=3;GERMQ=61;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=57;POPAF=7.3;TLOD=25.91;SRC=custom;GRP=custom;CSQ=C|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||19/35|ENST00000379370.7:c.3388+176T>C|||||||rs3128101||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.9287|0.8343|0.938|0.999|0.9334|0.9724||||||||||0.9129|0.8451|0.9923|0.9367|0.9283|0.9998|0.9596|0.9082|0.9293|0.9178|0.9632|0.9998|gnomADg_EAS|benign||1||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000461111|retained_intron||||||||||rs3128101|4853|1||SNV|HGNC|HGNC:329||||1||||||||1||||||0.9287|0.8343|0.938|0.999|0.9334|0.9724||||||||||0.9129|0.8451|0.9923|0.9367|0.9283|0.9998|0.9596|0.9082|0.9293|0.9178|0.9632|0.9998|gnomADg_EAS|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000466223|retained_intron||||||||||rs3128101|68|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.9287|0.8343|0.938|0.999|0.9334|0.9724||||||||||0.9129|0.8451|0.9923|0.9367|0.9283|0.9998|0.9596|0.9082|0.9293|0.9178|0.9632|0.9998|gnomADg_EAS|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000478677|retained_intron||||||||||rs3128101|342|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.9287|0.8343|0.938|0.999|0.9334|0.9724||||||||||0.9129|0.8451|0.9923|0.9367|0.9283|0.9998|0.9596|0.9082|0.9293|0.9178|0.9632|0.9998|gnomADg_EAS|benign||1||||||||||,C|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000479707|retained_intron||||||||||rs3128101|784|1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.9287|0.8343|0.938|0.999|0.9334|0.9724||||||||||0.9129|0.8451|0.9923|0.9367|0.9283|0.9998|0.9596|0.9082|0.9293|0.9178|0.9632|0.9998|gnomADg_EAS|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000492947|retained_intron||||||||||rs3128101|1396|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.9287|0.8343|0.938|0.999|0.9334|0.9724||||||||||0.9129|0.8451|0.9923|0.9367|0.9283|0.9998|0.9596|0.9082|0.9293|0.9178|0.9632|0.9998|gnomADg_EAS|benign||1||||||||||,C|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||19/38|ENST00000620552.4:c.2974+176T>C|||||||rs3128101||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.9287|0.8343|0.938|0.999|0.9334|0.9724||||||||||0.9129|0.8451|0.9923|0.9367|0.9283|0.9998|0.9596|0.9082|0.9293|0.9178|0.9632|0.9998|gnomADg_EAS|benign||1||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||18/37|ENST00000651234.1:c.3073+176T>C|||||||rs3128101||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.9287|0.8343|0.938|0.999|0.9334|0.9724||||||||||0.9129|0.8451|0.9923|0.9367|0.9283|0.9998|0.9596|0.9082|0.9293|0.9178|0.9632|0.9998|gnomADg_EAS|benign||1||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||18/34|ENST00000652369.1:c.3073+176T>C|||||||rs3128101||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.9287|0.8343|0.938|0.999|0.9334|0.9724||||||||||0.9129|0.8451|0.9923|0.9367|0.9283|0.9998|0.9596|0.9082|0.9293|0.9178|0.9632|0.9998|gnomADg_EAS|benign||1||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,7:0.841:7:0,0:0,3:0,4:0,0,3,4 -chr1 1047233 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C3|1%2C1;DP=8;ECNT=1;GERMQ=42;MBQ=32,34;MFRL=0,0;MMQ=60,60;MPOS=57;POPAF=7.3;TLOD=6.18;SRC=custom;GRP=custom;CSQ=C|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||19/35|ENST00000379370.7:c.3389-94T>C|||||||||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||||||||||||||||||||||||||||||||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000461111|retained_intron|||||||||||4753|1||SNV|HGNC|HGNC:329||||1||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000466223|retained_intron|1/3||ENST00000466223.1:n.33T>C||33|||||||1||SNV|HGNC|HGNC:329||||2||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000478677|retained_intron|||||||||||242|1||SNV|HGNC|HGNC:329||||2||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000479707|retained_intron|||||||||||884|1||SNV|HGNC|HGNC:329||||3||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000492947|retained_intron|||||||||||1296|1||SNV|HGNC|HGNC:329||||2||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||19/38|ENST00000620552.4:c.2975-94T>C|||||||||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||||||||||||||||||||||||||||||||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||18/37|ENST00000651234.1:c.3074-94T>C|||||||||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||||||||||||||||||||||||||||||||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||18/34|ENST00000652369.1:c.3074-94T>C|||||||||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||||||||||||||||||||||||||||||||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,2:0.286:8:0,0:3,1:4,1:3,3,1,1 -chr1 1047614 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=25;POPAF=7.3;TLOD=7.45;SRC=custom;GRP=custom;CSQ=C|synonymous_variant|LOW|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding|21/36||ENST00000379370.7:c.3558T>C|ENSP00000368678.2:p.Phe1186%3D|3611|3558|1186|F|ttT/ttC|rs10267&COSV65071416||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.8359|0.5151|0.9035|0.999|0.9205|0.9663|0.9083|0.5251|0.9388|0.9227|0.9995|0.9532|0.9167|0.9079|0.9527|0.8196|0.5382|0.9857|0.8959|0.9237|0.9992|0.958|0.879|0.92|0.8461|0.9566|0.9995|gnomADe_EAS|benign|0&1|1&1|25741868&18414213|||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000461111|retained_intron||||||||||rs10267&COSV65071416|4372|1||SNV|HGNC|HGNC:329||||1||||||||1||||||0.8359|0.5151|0.9035|0.999|0.9205|0.9663|0.9083|0.5251|0.9388|0.9227|0.9995|0.9532|0.9167|0.9079|0.9527|0.8196|0.5382|0.9857|0.8959|0.9237|0.9992|0.958|0.879|0.92|0.8461|0.9566|0.9995|gnomADe_EAS|benign|0&1|1&1|25741868&18414213|||||||||,C|non_coding_transcript_exon_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000466223|retained_intron|2/3||ENST00000466223.1:n.296T>C||296|||||rs10267&COSV65071416||1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.8359|0.5151|0.9035|0.999|0.9205|0.9663|0.9083|0.5251|0.9388|0.9227|0.9995|0.9532|0.9167|0.9079|0.9527|0.8196|0.5382|0.9857|0.8959|0.9237|0.9992|0.958|0.879|0.92|0.8461|0.9566|0.9995|gnomADe_EAS|benign|0&1|1&1|25741868&18414213|||||||||,C|non_coding_transcript_exon_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000478677|retained_intron|1/2||ENST00000478677.1:n.140T>C||140|||||rs10267&COSV65071416||1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.8359|0.5151|0.9035|0.999|0.9205|0.9663|0.9083|0.5251|0.9388|0.9227|0.9995|0.9532|0.9167|0.9079|0.9527|0.8196|0.5382|0.9857|0.8959|0.9237|0.9992|0.958|0.879|0.92|0.8461|0.9566|0.9995|gnomADe_EAS|benign|0&1|1&1|25741868&18414213|||||||||,C|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000479707|retained_intron||||||||||rs10267&COSV65071416|1265|1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.8359|0.5151|0.9035|0.999|0.9205|0.9663|0.9083|0.5251|0.9388|0.9227|0.9995|0.9532|0.9167|0.9079|0.9527|0.8196|0.5382|0.9857|0.8959|0.9237|0.9992|0.958|0.879|0.92|0.8461|0.9566|0.9995|gnomADe_EAS|benign|0&1|1&1|25741868&18414213|||||||||,C|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000492947|retained_intron||||||||||rs10267&COSV65071416|915|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.8359|0.5151|0.9035|0.999|0.9205|0.9663|0.9083|0.5251|0.9388|0.9227|0.9995|0.9532|0.9167|0.9079|0.9527|0.8196|0.5382|0.9857|0.8959|0.9237|0.9992|0.958|0.879|0.92|0.8461|0.9566|0.9995|gnomADe_EAS|benign|0&1|1&1|25741868&18414213|||||||||,C|synonymous_variant|LOW|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding|21/39||ENST00000620552.4:c.3144T>C|ENSP00000484607.1:p.Phe1048%3D|3608|3144|1048|F|ttT/ttC|rs10267&COSV65071416||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.8359|0.5151|0.9035|0.999|0.9205|0.9663|0.9083|0.5251|0.9388|0.9227|0.9995|0.9532|0.9167|0.9079|0.9527|0.8196|0.5382|0.9857|0.8959|0.9237|0.9992|0.958|0.879|0.92|0.8461|0.9566|0.9995|gnomADe_EAS|benign|0&1|1&1|25741868&18414213|||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|synonymous_variant|LOW|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding|20/38||ENST00000651234.1:c.3243T>C|ENSP00000499046.1:p.Phe1081%3D|3693|3243|1081|F|ttT/ttC|rs10267&COSV65071416||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.8359|0.5151|0.9035|0.999|0.9205|0.9663|0.9083|0.5251|0.9388|0.9227|0.9995|0.9532|0.9167|0.9079|0.9527|0.8196|0.5382|0.9857|0.8959|0.9237|0.9992|0.958|0.879|0.92|0.8461|0.9566|0.9995|gnomADe_EAS|benign|0&1|1&1|25741868&18414213|||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|synonymous_variant|LOW|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding|20/35||ENST00000652369.1:c.3243T>C|ENSP00000498543.1:p.Phe1081%3D|3693|3243|1081|F|ttT/ttC|rs10267&COSV65071416||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.8359|0.5151|0.9035|0.999|0.9205|0.9663|0.9083|0.5251|0.9388|0.9227|0.9995|0.9532|0.9167|0.9079|0.9527|0.8196|0.5382|0.9857|0.8959|0.9237|0.9992|0.958|0.879|0.92|0.8461|0.9566|0.9995|gnomADe_EAS|benign|0&1|1&1|25741868&18414213|||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1047823 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C3|1%2C1;DP=8;ECNT=1;GERMQ=41;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=47;POPAF=7.3;TLOD=6.45;SRC=custom;GRP=custom;CSQ=G|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding|22/36||ENST00000379370.7:c.3679A>G|ENSP00000368678.2:p.Ile1227Val|3732|3679|1227|I/V|Atc/Gtc|||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1|tolerated_low_confidence(0.08)|||||||||||||||||||||||||||||||||||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000461111|retained_intron|||||||||||4163|1||SNV|HGNC|HGNC:329||||1||||||||1||||||||||||||||||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000466223|retained_intron|3/3||ENST00000466223.1:n.417A>G||417|||||||1||SNV|HGNC|HGNC:329||||2||||||||1||||||||||||||||||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000478677|retained_intron|2/2||ENST00000478677.1:n.261A>G||261|||||||1||SNV|HGNC|HGNC:329||||2||||||||1||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000479707|retained_intron|||||||||||1474|1||SNV|HGNC|HGNC:329||||3||||||||1||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000492947|retained_intron|||||||||||706|1||SNV|HGNC|HGNC:329||||2||||||||1||||||||||||||||||||||||||||||||||||||||||||||,G|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding|22/39||ENST00000620552.4:c.3265A>G|ENSP00000484607.1:p.Ile1089Val|3729|3265|1089|I/V|Atc/Gtc|||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1|tolerated_low_confidence(0.08)|benign(0.353)||||||||||||||||||||||||||||||||||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding|21/38||ENST00000651234.1:c.3364A>G|ENSP00000499046.1:p.Ile1122Val|3814|3364|1122|I/V|Atc/Gtc|||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1|tolerated_low_confidence(0.08)|possibly_damaging(0.773)||||||||||||||||||||||||||||||||||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding|21/35||ENST00000652369.1:c.3364A>G|ENSP00000498543.1:p.Ile1122Val|3814|3364|1122|I/V|Atc/Gtc|||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1|tolerated_low_confidence(0.08)|possibly_damaging(0.721)||||||||||||||||||||||||||||||||||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,2:0.333:8:0,0:3,1:3,1:3,3,1,1 -chr1 1048086 . G C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=14%2C9|1%2C1;DP=25;ECNT=4;GERMQ=78;MBQ=34,34;MFRL=0,0;MMQ=60,60;MPOS=63;POPAF=7.3;TLOD=5.27;SRC=custom;GRP=custom;CSQ=C|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding|23/36||ENST00000379370.7:c.3826G>C|ENSP00000368678.2:p.Ala1276Pro|3879|3826|1276|A/P|Gca/Cca|||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1|tolerated_low_confidence(0.15)|||||||||||||||||||||||||||||||||||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000461111|retained_intron|||||||||||3900|1||SNV|HGNC|HGNC:329||||1||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000466223|retained_intron|||||||||||221|1||SNV|HGNC|HGNC:329||||2||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000478677|retained_intron|||||||||||248|1||SNV|HGNC|HGNC:329||||2||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000479707|retained_intron|||||||||||1737|1||SNV|HGNC|HGNC:329||||3||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000492947|retained_intron|||||||||||443|1||SNV|HGNC|HGNC:329||||2||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding|23/39||ENST00000620552.4:c.3412G>C|ENSP00000484607.1:p.Ala1138Pro|3876|3412|1138|A/P|Gca/Cca|||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1|tolerated_low_confidence(0.17)|possibly_damaging(0.825)||||||||||||||||||||||||||||||||||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding|22/38||ENST00000651234.1:c.3511G>C|ENSP00000499046.1:p.Ala1171Pro|3961|3511|1171|A/P|Gca/Cca|||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1|tolerated_low_confidence(0.15)|probably_damaging(0.942)||||||||||||||||||||||||||||||||||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding|22/35||ENST00000652369.1:c.3511G>C|ENSP00000498543.1:p.Ala1171Pro|3961|3511|1171|A/P|Gca/Cca|||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1|tolerated_low_confidence(0.15)|benign(0.398)||||||||||||||||||||||||||||||||||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:23,2:0.118:25:0,0:14,1:14,1:14,9,1,1 -chr1 1048090 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=14%2C9|1%2C1;DP=25;ECNT=4;GERMQ=78;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=68;POPAF=7.3;TLOD=4.97;SRC=custom;GRP=custom;CSQ=T|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding|23/36||ENST00000379370.7:c.3830C>T|ENSP00000368678.2:p.Ser1277Leu|3883|3830|1277|S/L|tCg/tTg|rs747114622||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1|tolerated_low_confidence(0.37)|||||||||||2.165e-05|9.06e-05|3.307e-05|0|0|0|2.456e-05|0|0|7.228e-05|0.0002171|0|6.544e-05|0|0|0|0|1.47e-05|0|0|0.0002171|gnomADg_AFR|uncertain_significance||1||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000461111|retained_intron||||||||||rs747114622|3896|1||SNV|HGNC|HGNC:329||||1||||||||1||||||||||||2.165e-05|9.06e-05|3.307e-05|0|0|0|2.456e-05|0|0|7.228e-05|0.0002171|0|6.544e-05|0|0|0|0|1.47e-05|0|0|0.0002171|gnomADg_AFR|uncertain_significance||1||||||||||,T|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000466223|retained_intron||||||||||rs747114622|225|1||SNV|HGNC|HGNC:329||||2||||||||1||||||||||||2.165e-05|9.06e-05|3.307e-05|0|0|0|2.456e-05|0|0|7.228e-05|0.0002171|0|6.544e-05|0|0|0|0|1.47e-05|0|0|0.0002171|gnomADg_AFR|uncertain_significance||1||||||||||,T|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000478677|retained_intron||||||||||rs747114622|252|1||SNV|HGNC|HGNC:329||||2||||||||1||||||||||||2.165e-05|9.06e-05|3.307e-05|0|0|0|2.456e-05|0|0|7.228e-05|0.0002171|0|6.544e-05|0|0|0|0|1.47e-05|0|0|0.0002171|gnomADg_AFR|uncertain_significance||1||||||||||,T|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000479707|retained_intron||||||||||rs747114622|1741|1||SNV|HGNC|HGNC:329||||3||||||||1||||||||||||2.165e-05|9.06e-05|3.307e-05|0|0|0|2.456e-05|0|0|7.228e-05|0.0002171|0|6.544e-05|0|0|0|0|1.47e-05|0|0|0.0002171|gnomADg_AFR|uncertain_significance||1||||||||||,T|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000492947|retained_intron||||||||||rs747114622|439|1||SNV|HGNC|HGNC:329||||2||||||||1||||||||||||2.165e-05|9.06e-05|3.307e-05|0|0|0|2.456e-05|0|0|7.228e-05|0.0002171|0|6.544e-05|0|0|0|0|1.47e-05|0|0|0.0002171|gnomADg_AFR|uncertain_significance||1||||||||||,T|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding|23/39||ENST00000620552.4:c.3416C>T|ENSP00000484607.1:p.Ser1139Leu|3880|3416|1139|S/L|tCg/tTg|rs747114622||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1|tolerated_low_confidence(0.29)|benign(0.021)||||||||||2.165e-05|9.06e-05|3.307e-05|0|0|0|2.456e-05|0|0|7.228e-05|0.0002171|0|6.544e-05|0|0|0|0|1.47e-05|0|0|0.0002171|gnomADg_AFR|uncertain_significance||1||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding|22/38||ENST00000651234.1:c.3515C>T|ENSP00000499046.1:p.Ser1172Leu|3965|3515|1172|S/L|tCg/tTg|rs747114622||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1|tolerated_low_confidence(0.31)|possibly_damaging(0.747)||||||||||2.165e-05|9.06e-05|3.307e-05|0|0|0|2.456e-05|0|0|7.228e-05|0.0002171|0|6.544e-05|0|0|0|0|1.47e-05|0|0|0.0002171|gnomADg_AFR|uncertain_significance||1||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding|22/35||ENST00000652369.1:c.3515C>T|ENSP00000498543.1:p.Ser1172Leu|3965|3515|1172|S/L|tCg/tTg|rs747114622||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1|tolerated_low_confidence(0.32)|benign(0.151)||||||||||2.165e-05|9.06e-05|3.307e-05|0|0|0|2.456e-05|0|0|7.228e-05|0.0002171|0|6.544e-05|0|0|0|0|1.47e-05|0|0|0.0002171|gnomADg_AFR|uncertain_significance||1||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:23,2:0.118:25:0,0:14,1:14,1:14,9,1,1 -chr1 1048096 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=22%2C16|1%2C1;DP=43;ECNT=1;GERMQ=93;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=47;POPAF=7.3;TLOD=4.7;SRC=custom;GRP=custom;CSQ=C|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding|23/36||ENST00000379370.7:c.3836T>C|ENSP00000368678.2:p.Leu1279Pro|3889|3836|1279|L/P|cTg/cCg|||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1|tolerated_low_confidence(0.26)|||||||||||||||||||||||||||||||||||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000461111|retained_intron|||||||||||3890|1||SNV|HGNC|HGNC:329||||1||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000466223|retained_intron|||||||||||231|1||SNV|HGNC|HGNC:329||||2||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000478677|retained_intron|||||||||||258|1||SNV|HGNC|HGNC:329||||2||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000479707|retained_intron|||||||||||1747|1||SNV|HGNC|HGNC:329||||3||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000492947|retained_intron|||||||||||433|1||SNV|HGNC|HGNC:329||||2||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding|23/39||ENST00000620552.4:c.3422T>C|ENSP00000484607.1:p.Leu1141Pro|3886|3422|1141|L/P|cTg/cCg|||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1|tolerated_low_confidence(0.29)|benign(0.059)||||||||||||||||||||||||||||||||||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding|22/38||ENST00000651234.1:c.3521T>C|ENSP00000499046.1:p.Leu1174Pro|3971|3521|1174|L/P|cTg/cCg|||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1|tolerated_low_confidence(0.28)|benign(0.443)||||||||||||||||||||||||||||||||||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding|22/35||ENST00000652369.1:c.3521T>C|ENSP00000498543.1:p.Leu1174Pro|3971|3521|1174|L/P|cTg/cCg|||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1|tolerated_low_confidence(0.31)|benign(0.398)||||||||||||||||||||||||||||||||||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:38,2:0.079:40:0,0:22,1:22,1:22,16,1,1 -chr1 1048129 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=10%2C12|1%2C1;DP=24;ECNT=4;GERMQ=76;MBQ=31,34;MFRL=0,0;MMQ=60,60;MPOS=46;POPAF=7.3;TLOD=5.34;SRC=custom;GRP=custom;CSQ=G|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding|23/36||ENST00000379370.7:c.3869A>G|ENSP00000368678.2:p.His1290Arg|3922|3869|1290|H/R|cAc/cGc|rs758792323||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1|tolerated_low_confidence(0.35)|||||||||||0|0|0|0|0|0|0|0|0||||||||||||0|gnomADe_AFR&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS|||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000461111|retained_intron||||||||||rs758792323|3857|1||SNV|HGNC|HGNC:329||||1||||||||1||||||||||||0|0|0|0|0|0|0|0|0||||||||||||0|gnomADe_AFR&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS|||||||||||||,G|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000466223|retained_intron||||||||||rs758792323|264|1||SNV|HGNC|HGNC:329||||2||||||||1||||||||||||0|0|0|0|0|0|0|0|0||||||||||||0|gnomADe_AFR&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS|||||||||||||,G|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000478677|retained_intron||||||||||rs758792323|291|1||SNV|HGNC|HGNC:329||||2||||||||1||||||||||||0|0|0|0|0|0|0|0|0||||||||||||0|gnomADe_AFR&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS|||||||||||||,G|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000479707|retained_intron||||||||||rs758792323|1780|1||SNV|HGNC|HGNC:329||||3||||||||1||||||||||||0|0|0|0|0|0|0|0|0||||||||||||0|gnomADe_AFR&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS|||||||||||||,G|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000492947|retained_intron||||||||||rs758792323|400|1||SNV|HGNC|HGNC:329||||2||||||||1||||||||||||0|0|0|0|0|0|0|0|0||||||||||||0|gnomADe_AFR&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS|||||||||||||,G|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding|23/39||ENST00000620552.4:c.3455A>G|ENSP00000484607.1:p.His1152Arg|3919|3455|1152|H/R|cAc/cGc|rs758792323||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1|tolerated_low_confidence(0.37)|possibly_damaging(0.575)||||||||||0|0|0|0|0|0|0|0|0||||||||||||0|gnomADe_AFR&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS|||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding|22/38||ENST00000651234.1:c.3554A>G|ENSP00000499046.1:p.His1185Arg|4004|3554|1185|H/R|cAc/cGc|rs758792323||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1|tolerated_low_confidence(0.36)|benign(0.245)||||||||||0|0|0|0|0|0|0|0|0||||||||||||0|gnomADe_AFR&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding|22/35||ENST00000652369.1:c.3554A>G|ENSP00000498543.1:p.His1185Arg|4004|3554|1185|H/R|cAc/cGc|rs758792323||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1|tolerated_low_confidence(0.37)|benign(0.302)||||||||||0|0|0|0|0|0|0|0|0||||||||||||0|gnomADe_AFR&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:22,2:0.126:24:0,0:10,1:13,1:10,12,1,1 -chr1 1048331 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5%2C8|1%2C1;DP=16;ECNT=2;GERMQ=55;MBQ=34,34;MFRL=0,0;MMQ=60,60;MPOS=135;POPAF=7.3;TLOD=5.68;SRC=custom;GRP=custom;CSQ=T|synonymous_variant|LOW|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding|23/36||ENST00000379370.7:c.4071C>T|ENSP00000368678.2:p.Cys1357%3D|4124|4071|1357|C|tgC/tgT|||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||||||||||||||||||||||||||||||||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000461111|retained_intron|||||||||||3655|1||SNV|HGNC|HGNC:329||||1||||||||1||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000466223|retained_intron|||||||||||466|1||SNV|HGNC|HGNC:329||||2||||||||1||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000478677|retained_intron|||||||||||493|1||SNV|HGNC|HGNC:329||||2||||||||1||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000479707|retained_intron|||||||||||1982|1||SNV|HGNC|HGNC:329||||3||||||||1||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000492947|retained_intron|||||||||||198|1||SNV|HGNC|HGNC:329||||2||||||||1||||||||||||||||||||||||||||||||||||||||||||||,T|synonymous_variant|LOW|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding|23/39||ENST00000620552.4:c.3657C>T|ENSP00000484607.1:p.Cys1219%3D|4121|3657|1219|C|tgC/tgT|||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||||||||||||||||||||||||||||||||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|synonymous_variant|LOW|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding|22/38||ENST00000651234.1:c.3756C>T|ENSP00000499046.1:p.Cys1252%3D|4206|3756|1252|C|tgC/tgT|||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||||||||||||||||||||||||||||||||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|synonymous_variant|LOW|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding|22/35||ENST00000652369.1:c.3756C>T|ENSP00000498543.1:p.Cys1252%3D|4206|3756|1252|C|tgC/tgT|||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||||||||||||||||||||||||||||||||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:13,2:0.179:15:2,0:5,1:8,1:5,8,1,1 -chr1 1048342 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5%2C8|1%2C1;DP=15;ECNT=2;GERMQ=55;MBQ=34,29;MFRL=0,0;MMQ=60,60;MPOS=118;POPAF=7.3;TLOD=4.61;SRC=custom;GRP=custom;CSQ=A|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding|23/36||ENST00000379370.7:c.4082G>A|ENSP00000368678.2:p.Arg1361Lys|4135|4082|1361|R/K|aGg/aAg|||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1|tolerated_low_confidence(0.37)|||||||||||||||||||||||||||||||||||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000461111|retained_intron|||||||||||3644|1||SNV|HGNC|HGNC:329||||1||||||||1||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000466223|retained_intron|||||||||||477|1||SNV|HGNC|HGNC:329||||2||||||||1||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000478677|retained_intron|||||||||||504|1||SNV|HGNC|HGNC:329||||2||||||||1||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000479707|retained_intron|||||||||||1993|1||SNV|HGNC|HGNC:329||||3||||||||1||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000492947|retained_intron|||||||||||187|1||SNV|HGNC|HGNC:329||||2||||||||1||||||||||||||||||||||||||||||||||||||||||||||,A|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding|23/39||ENST00000620552.4:c.3668G>A|ENSP00000484607.1:p.Arg1223Lys|4132|3668|1223|R/K|aGg/aAg|||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1|tolerated_low_confidence(0.4)|possibly_damaging(0.669)||||||||||||||||||||||||||||||||||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding|22/38||ENST00000651234.1:c.3767G>A|ENSP00000499046.1:p.Arg1256Lys|4217|3767|1256|R/K|aGg/aAg|||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1|tolerated_low_confidence(0.38)|possibly_damaging(0.479)||||||||||||||||||||||||||||||||||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding|22/35||ENST00000652369.1:c.3767G>A|ENSP00000498543.1:p.Arg1256Lys|4217|3767|1256|R/K|aGg/aAg|||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1|tolerated_low_confidence(0.38)|possibly_damaging(0.577)||||||||||||||||||||||||||||||||||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:13,2:0.167:15:2,0:5,1:9,1:5,8,1,1 -chr1 1048912 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=7%2C7|1%2C1;DP=16;ECNT=1;GERMQ=57;MBQ=35,33;MFRL=0,0;MMQ=60,60;MPOS=53;POPAF=7.3;TLOD=5.41;SRC=custom;GRP=custom;CSQ=T|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding|24/36||ENST00000379370.7:c.4151C>T|ENSP00000368678.2:p.Ala1384Val|4204|4151|1384|A/V|gCc/gTc|rs1280056170||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1|deleterious_low_confidence(0)|||||||||||0|0|0|0|0|0|0|0|0|6.583e-06|0|0|0|0|0|0|0|1.471e-05|0|0|1.471e-05|gnomADg_NFE|||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000461111|retained_intron||||||||||rs1280056170|3074|1||SNV|HGNC|HGNC:329||||1||||||||1||||||||||||0|0|0|0|0|0|0|0|0|6.583e-06|0|0|0|0|0|0|0|1.471e-05|0|0|1.471e-05|gnomADg_NFE|||||||||||||,T|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000466223|retained_intron||||||||||rs1280056170|1047|1||SNV|HGNC|HGNC:329||||2||||||||1||||||||||||0|0|0|0|0|0|0|0|0|6.583e-06|0|0|0|0|0|0|0|1.471e-05|0|0|1.471e-05|gnomADg_NFE|||||||||||||,T|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000478677|retained_intron||||||||||rs1280056170|1074|1||SNV|HGNC|HGNC:329||||2||||||||1||||||||||||0|0|0|0|0|0|0|0|0|6.583e-06|0|0|0|0|0|0|0|1.471e-05|0|0|1.471e-05|gnomADg_NFE|||||||||||||,T|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000479707|retained_intron||||||||||rs1280056170|2563|1||SNV|HGNC|HGNC:329||||3||||||||1||||||||||||0|0|0|0|0|0|0|0|0|6.583e-06|0|0|0|0|0|0|0|1.471e-05|0|0|1.471e-05|gnomADg_NFE|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000492947|retained_intron|1/2||ENST00000492947.1:n.384C>T||384|||||rs1280056170||1||SNV|HGNC|HGNC:329||||2||||||||1||||||||||||0|0|0|0|0|0|0|0|0|6.583e-06|0|0|0|0|0|0|0|1.471e-05|0|0|1.471e-05|gnomADg_NFE|||||||||||||,T|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding|24/39||ENST00000620552.4:c.3737C>T|ENSP00000484607.1:p.Ala1246Val|4201|3737|1246|A/V|gCc/gTc|rs1280056170||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1|deleterious_low_confidence(0)|benign(0.165)||||||||||0|0|0|0|0|0|0|0|0|6.583e-06|0|0|0|0|0|0|0|1.471e-05|0|0|1.471e-05|gnomADg_NFE|||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding|23/38||ENST00000651234.1:c.3836C>T|ENSP00000499046.1:p.Ala1279Val|4286|3836|1279|A/V|gCc/gTc|rs1280056170||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1|deleterious_low_confidence(0)|possibly_damaging(0.608)||||||||||0|0|0|0|0|0|0|0|0|6.583e-06|0|0|0|0|0|0|0|1.471e-05|0|0|1.471e-05|gnomADg_NFE|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding|23/35||ENST00000652369.1:c.3836C>T|ENSP00000498543.1:p.Ala1279Val|4286|3836|1279|A/V|gCc/gTc|rs1280056170||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1|deleterious_low_confidence(0)|possibly_damaging(0.715)||||||||||0|0|0|0|0|0|0|0|0|6.583e-06|0|0|0|0|0|0|0|1.471e-05|0|0|1.471e-05|gnomADg_NFE|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:14,2:0.167:16:2,0:7,1:9,1:7,7,1,1 -chr1 1049616 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=6%2C4|1%2C1;DP=12;ECNT=1;GERMQ=48;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=56;POPAF=7.3;TLOD=5.51;SRC=custom;GRP=custom;CSQ=C|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding|26/36||ENST00000379370.7:c.4565T>C|ENSP00000368678.2:p.Leu1522Ser|4618|4565|1522|L/S|tTg/tCg|||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1|deleterious_low_confidence(0)|||||||||||||||||||||||||||||||||||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000461111|retained_intron|||||||||||2370|1||SNV|HGNC|HGNC:329||||1||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000466223|retained_intron|||||||||||1751|1||SNV|HGNC|HGNC:329||||2||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000478677|retained_intron|||||||||||1778|1||SNV|HGNC|HGNC:329||||2||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000479707|retained_intron|||||||||||3267|1||SNV|HGNC|HGNC:329||||3||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000492947|retained_intron|||||||||||222|1||SNV|HGNC|HGNC:329||||2||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding|26/39||ENST00000620552.4:c.4151T>C|ENSP00000484607.1:p.Leu1384Ser|4615|4151|1384|L/S|tTg/tCg|||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1|deleterious_low_confidence(0)|possibly_damaging(0.514)||||||||||||||||||||||||||||||||||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding|25/38||ENST00000651234.1:c.4250T>C|ENSP00000499046.1:p.Leu1417Ser|4700|4250|1417|L/S|tTg/tCg|||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1|deleterious_low_confidence(0)|probably_damaging(0.972)||||||||||||||||||||||||||||||||||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding|25/35||ENST00000652369.1:c.4250T>C|ENSP00000498543.1:p.Leu1417Ser|4700|4250|1417|L/S|tTg/tCg|||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1|deleterious_low_confidence(0)|benign(0.1)||||||||||||||||||||||||||||||||||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:10,2:0.222:12:0,0:6,1:6,1:6,4,1,1 -chr1 1051063 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=94;POPAF=7.3;TLOD=7.25;SRC=custom;GRP=custom;CSQ=T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||30/35|ENST00000379370.7:c.5254-190C>T|||||||rs2710887||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.7885|0.3896|0.8876|0.9931|0.9135|0.9182|0.8973|0.4166|0.9274|0.8926|0.9955|0.9516|0.9112|0.8948|0.8921|0.7824|0.4338|0.9857|0.8825|0.8948|0.995|0.9552|0.8544|0.9104|0.8117|0.9022|0.9955|gnomADe_EAS|benign||1||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|upstream_gene_variant|MODIFIER||ENSG00000242590|Transcript|ENST00000418300|lncRNA||||||||||rs2710887|3970|1||SNV|||YES|||3||||||||||||||0.7885|0.3896|0.8876|0.9931|0.9135|0.9182|0.8973|0.4166|0.9274|0.8926|0.9955|0.9516|0.9112|0.8948|0.8921|0.7824|0.4338|0.9857|0.8825|0.8948|0.995|0.9552|0.8544|0.9104|0.8117|0.9022|0.9955|gnomADe_EAS|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000461111|retained_intron||||||||||rs2710887|923|1||SNV|HGNC|HGNC:329||||1||||||||1||||||0.7885|0.3896|0.8876|0.9931|0.9135|0.9182|0.8973|0.4166|0.9274|0.8926|0.9955|0.9516|0.9112|0.8948|0.8921|0.7824|0.4338|0.9857|0.8825|0.8948|0.995|0.9552|0.8544|0.9104|0.8117|0.9022|0.9955|gnomADe_EAS|benign||1||||||||||,T|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000466223|retained_intron||||||||||rs2710887|3198|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.7885|0.3896|0.8876|0.9931|0.9135|0.9182|0.8973|0.4166|0.9274|0.8926|0.9955|0.9516|0.9112|0.8948|0.8921|0.7824|0.4338|0.9857|0.8825|0.8948|0.995|0.9552|0.8544|0.9104|0.8117|0.9022|0.9955|gnomADe_EAS|benign||1||||||||||,T|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000478677|retained_intron||||||||||rs2710887|3225|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.7885|0.3896|0.8876|0.9931|0.9135|0.9182|0.8973|0.4166|0.9274|0.8926|0.9955|0.9516|0.9112|0.8948|0.8921|0.7824|0.4338|0.9857|0.8825|0.8948|0.995|0.9552|0.8544|0.9104|0.8117|0.9022|0.9955|gnomADe_EAS|benign||1||||||||||,T|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000479707|retained_intron||||||||||rs2710887|4714|1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.7885|0.3896|0.8876|0.9931|0.9135|0.9182|0.8973|0.4166|0.9274|0.8926|0.9955|0.9516|0.9112|0.8948|0.8921|0.7824|0.4338|0.9857|0.8825|0.8948|0.995|0.9552|0.8544|0.9104|0.8117|0.9022|0.9955|gnomADe_EAS|benign||1||||||||||,T|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000492947|retained_intron||||||||||rs2710887|1669|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.7885|0.3896|0.8876|0.9931|0.9135|0.9182|0.8973|0.4166|0.9274|0.8926|0.9955|0.9516|0.9112|0.8948|0.8921|0.7824|0.4338|0.9857|0.8825|0.8948|0.995|0.9552|0.8544|0.9104|0.8117|0.9022|0.9955|gnomADe_EAS|benign||1||||||||||,T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||31/38|ENST00000620552.4:c.4851+20C>T|||||||rs2710887||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.7885|0.3896|0.8876|0.9931|0.9135|0.9182|0.8973|0.4166|0.9274|0.8926|0.9955|0.9516|0.9112|0.8948|0.8921|0.7824|0.4338|0.9857|0.8825|0.8948|0.995|0.9552|0.8544|0.9104|0.8117|0.9022|0.9955|gnomADe_EAS|benign||1||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||30/37|ENST00000651234.1:c.4950+20C>T|||||||rs2710887||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.7885|0.3896|0.8876|0.9931|0.9135|0.9182|0.8973|0.4166|0.9274|0.8926|0.9955|0.9516|0.9112|0.8948|0.8921|0.7824|0.4338|0.9857|0.8825|0.8948|0.995|0.9552|0.8544|0.9104|0.8117|0.9022|0.9955|gnomADe_EAS|benign||1||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||29/34|ENST00000652369.1:c.4939-190C>T|||||||rs2710887||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.7885|0.3896|0.8876|0.9931|0.9135|0.9182|0.8973|0.4166|0.9274|0.8926|0.9955|0.9516|0.9112|0.8948|0.8921|0.7824|0.4338|0.9857|0.8825|0.8948|0.995|0.9552|0.8544|0.9104|0.8117|0.9022|0.9955|gnomADe_EAS|benign||1||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344471|CTCF_binding_site||||||||||rs2710887||||SNV||||||||||||||||||||0.7885|0.3896|0.8876|0.9931|0.9135|0.9182|0.8973|0.4166|0.9274|0.8926|0.9955|0.9516|0.9112|0.8948|0.8921|0.7824|0.4338|0.9857|0.8825|0.8948|0.995|0.9552|0.8544|0.9104|0.8117|0.9022|0.9955|gnomADe_EAS|benign||1|||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1051820 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=44;POPAF=7.3;TLOD=3.48;SRC=custom;GRP=custom;CSQ=T|splice_donor_5th_base_variant&intron_variant|LOW|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||33/35|ENST00000379370.7:c.5651+5C>T|||||||rs9803031||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.7887|0.4017|0.8876|0.9931|0.9145|0.9018|0.8871|0.4387|0.932|0.8923|0.9957|0.9505|0.9082|0.8928|0.8828|0.7873|0.4525|0.9857|0.8855|0.8952|0.9946|0.9546|0.8639|0.9107|0.8131|0.887|0.9957|gnomADe_EAS|benign||1|25741868&18414213|||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|upstream_gene_variant|MODIFIER||ENSG00000242590|Transcript|ENST00000418300|lncRNA||||||||||rs9803031|3213|1||SNV|||YES|||3||||||||||||||0.7887|0.4017|0.8876|0.9931|0.9145|0.9018|0.8871|0.4387|0.932|0.8923|0.9957|0.9505|0.9082|0.8928|0.8828|0.7873|0.4525|0.9857|0.8855|0.8952|0.9946|0.9546|0.8639|0.9107|0.8131|0.887|0.9957|gnomADe_EAS|benign||1|25741868&18414213|||||||||,T|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000461111|retained_intron||||||||||rs9803031|166|1||SNV|HGNC|HGNC:329||||1||||||||1||||||0.7887|0.4017|0.8876|0.9931|0.9145|0.9018|0.8871|0.4387|0.932|0.8923|0.9957|0.9505|0.9082|0.8928|0.8828|0.7873|0.4525|0.9857|0.8855|0.8952|0.9946|0.9546|0.8639|0.9107|0.8131|0.887|0.9957|gnomADe_EAS|benign||1|25741868&18414213|||||||||,T|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000466223|retained_intron||||||||||rs9803031|3955|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.7887|0.4017|0.8876|0.9931|0.9145|0.9018|0.8871|0.4387|0.932|0.8923|0.9957|0.9505|0.9082|0.8928|0.8828|0.7873|0.4525|0.9857|0.8855|0.8952|0.9946|0.9546|0.8639|0.9107|0.8131|0.887|0.9957|gnomADe_EAS|benign||1|25741868&18414213|||||||||,T|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000478677|retained_intron||||||||||rs9803031|3982|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.7887|0.4017|0.8876|0.9931|0.9145|0.9018|0.8871|0.4387|0.932|0.8923|0.9957|0.9505|0.9082|0.8928|0.8828|0.7873|0.4525|0.9857|0.8855|0.8952|0.9946|0.9546|0.8639|0.9107|0.8131|0.887|0.9957|gnomADe_EAS|benign||1|25741868&18414213|||||||||,T|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000492947|retained_intron||||||||||rs9803031|2426|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.7887|0.4017|0.8876|0.9931|0.9145|0.9018|0.8871|0.4387|0.932|0.8923|0.9957|0.9505|0.9082|0.8928|0.8828|0.7873|0.4525|0.9857|0.8855|0.8952|0.9946|0.9546|0.8639|0.9107|0.8131|0.887|0.9957|gnomADe_EAS|benign||1|25741868&18414213|||||||||,T|splice_donor_5th_base_variant&intron_variant|LOW|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||34/38|ENST00000620552.4:c.5249+5C>T|||||||rs9803031||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.7887|0.4017|0.8876|0.9931|0.9145|0.9018|0.8871|0.4387|0.932|0.8923|0.9957|0.9505|0.9082|0.8928|0.8828|0.7873|0.4525|0.9857|0.8855|0.8952|0.9946|0.9546|0.8639|0.9107|0.8131|0.887|0.9957|gnomADe_EAS|benign||1|25741868&18414213|||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|splice_donor_5th_base_variant&intron_variant|LOW|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||33/37|ENST00000651234.1:c.5348+5C>T|||||||rs9803031||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.7887|0.4017|0.8876|0.9931|0.9145|0.9018|0.8871|0.4387|0.932|0.8923|0.9957|0.9505|0.9082|0.8928|0.8828|0.7873|0.4525|0.9857|0.8855|0.8952|0.9946|0.9546|0.8639|0.9107|0.8131|0.887|0.9957|gnomADe_EAS|benign||1|25741868&18414213|||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|splice_donor_5th_base_variant&intron_variant|LOW|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||32/34|ENST00000652369.1:c.5336+5C>T|||||||rs9803031||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.7887|0.4017|0.8876|0.9931|0.9145|0.9018|0.8871|0.4387|0.932|0.8923|0.9957|0.9505|0.9082|0.8928|0.8828|0.7873|0.4525|0.9857|0.8855|0.8952|0.9946|0.9546|0.8639|0.9107|0.8131|0.887|0.9957|gnomADe_EAS|benign||1|25741868&18414213|||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 1054866 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=6%2C4|1%2C1;DP=12;ECNT=1;GERMQ=49;MBQ=35,33;MFRL=0,0;MMQ=60,60;MPOS=55;POPAF=7.3;TLOD=5.81;SRC=custom;GRP=custom;CSQ=G|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding|36/36||ENST00000379370.7:c.6023C>G|ENSP00000368678.2:p.Ala2008Gly|6076|6023|2008|A/G|gCc/gGc|||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1|deleterious_low_confidence(0)|||||||||||||||||||||||||||||||||||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA|||||||||||4842|1||SNV||||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000242590|Transcript|ENST00000418300|lncRNA|||||||||||167|1||SNV|||YES|||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA|||||||||||4863|1||SNV||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA|||||||||||4827|1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000461111|retained_intron|3/3||ENST00000461111.1:n.2139C>G||2139|||||||1||SNV|HGNC|HGNC:329||||1||||||||1||||||||||||||||||||||||||||||||||||||||||||||,G|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding|39/39||ENST00000620552.4:c.5678C>G|ENSP00000484607.1:p.Ala1893Gly|6142|5678|1893|A/G|gCc/gGc|||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1|deleterious_low_confidence(0)|possibly_damaging(0.503)||||||||||||||||||||||||||||||||||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding|38/38||ENST00000651234.1:c.5777C>G|ENSP00000499046.1:p.Ala1926Gly|6227|5777|1926|A/G|gCc/gGc|||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1|deleterious_low_confidence(0)|possibly_damaging(0.503)||||||||||||||||||||||||||||||||||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding|35/35||ENST00000652369.1:c.5708C>G|ENSP00000498543.1:p.Ala1903Gly|6158|5708|1903|A/G|gCc/gGc|||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1|deleterious_low_confidence(0)|benign(0.241)||||||||||||||||||||||||||||||||||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA|||||||||||4864|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA|||||||||||4821|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA|||||||||||4868|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA|||||||||||4834|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA|||||||||||4834|1||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:10,2:0.222:12:0,0:6,1:6,1:6,4,1,1 -chr1 1054929 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=7%2C4|1%2C1;DP=15;ECNT=3;GERMQ=50;MBQ=33,26;MFRL=0,0;MMQ=60,60;MPOS=70;POPAF=7.3;TLOD=4.29;SRC=custom;GRP=custom;CSQ=C|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding|36/36||ENST00000379370.7:c.6086T>C|ENSP00000368678.2:p.Leu2029Pro|6139|6086|2029|L/P|cTg/cCg|rs1373720209&COSV106113329||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1|deleterious_low_confidence(0)|||||||||||0|0|0|0|0|0|0|0|0||||||||||||0|gnomADe_AFR&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS||0&1|0&1||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA||||||||||rs1373720209&COSV106113329|4779|1||SNV||||||5||||||||||||||||||||0|0|0|0|0|0|0|0|0||||||||||||0|gnomADe_AFR&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS||0&1|0&1||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000242590|Transcript|ENST00000418300|lncRNA||||||||||rs1373720209&COSV106113329|104|1||SNV|||YES|||3||||||||||||||||||||0|0|0|0|0|0|0|0|0||||||||||||0|gnomADe_AFR&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS||0&1|0&1||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA||||||||||rs1373720209&COSV106113329|4800|1||SNV||||||1||||||||||||||||||||0|0|0|0|0|0|0|0|0||||||||||||0|gnomADe_AFR&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS||0&1|0&1||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA||||||||||rs1373720209&COSV106113329|4764|1||SNV|||YES|||2||||||||||||||||||||0|0|0|0|0|0|0|0|0||||||||||||0|gnomADe_AFR&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS||0&1|0&1||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000461111|retained_intron|3/3||ENST00000461111.1:n.2202T>C||2202|||||rs1373720209&COSV106113329||1||SNV|HGNC|HGNC:329||||1||||||||1||||||||||||0|0|0|0|0|0|0|0|0||||||||||||0|gnomADe_AFR&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS||0&1|0&1||||||||||,C|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding|39/39||ENST00000620552.4:c.5741T>C|ENSP00000484607.1:p.Leu1914Pro|6205|5741|1914|L/P|cTg/cCg|rs1373720209&COSV106113329||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1|deleterious_low_confidence(0)|probably_damaging(0.992)||||||||||0|0|0|0|0|0|0|0|0||||||||||||0|gnomADe_AFR&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS||0&1|0&1||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding|38/38||ENST00000651234.1:c.5840T>C|ENSP00000499046.1:p.Leu1947Pro|6290|5840|1947|L/P|cTg/cCg|rs1373720209&COSV106113329||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1|deleterious_low_confidence(0)|probably_damaging(0.992)||||||||||0|0|0|0|0|0|0|0|0||||||||||||0|gnomADe_AFR&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS||0&1|0&1||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding|35/35||ENST00000652369.1:c.5771T>C|ENSP00000498543.1:p.Leu1924Pro|6221|5771|1924|L/P|cTg/cCg|rs1373720209&COSV106113329||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1|deleterious_low_confidence(0)|probably_damaging(0.971)||||||||||0|0|0|0|0|0|0|0|0||||||||||||0|gnomADe_AFR&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS||0&1|0&1||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA||||||||||rs1373720209&COSV106113329|4801|1||SNV||||||||||||||||||||||||||0|0|0|0|0|0|0|0|0||||||||||||0|gnomADe_AFR&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS||0&1|0&1||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA||||||||||rs1373720209&COSV106113329|4758|1||SNV||||||||||||||||||||||||||0|0|0|0|0|0|0|0|0||||||||||||0|gnomADe_AFR&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS||0&1|0&1||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA||||||||||rs1373720209&COSV106113329|4805|1||SNV||||||||||||||||||||||||||0|0|0|0|0|0|0|0|0||||||||||||0|gnomADe_AFR&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS||0&1|0&1||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA||||||||||rs1373720209&COSV106113329|4771|1||SNV||||||||||||||||||||||||||0|0|0|0|0|0|0|0|0||||||||||||0|gnomADe_AFR&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS||0&1|0&1||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA||||||||||rs1373720209&COSV106113329|4771|1||SNV||||||||||||||||||||||||||0|0|0|0|0|0|0|0|0||||||||||||0|gnomADe_AFR&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS||0&1|0&1|||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:11,2:0.2:13:0,0:7,1:7,1:7,4,1,1 -chr1 1055000 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|15%2C16;DP=33;ECNT=3;GERMQ=93;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=60;POPAF=7.3;TLOD=113.32;SRC=custom;GRP=custom;CSQ=T|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding|36/36||ENST00000379370.7:c.*19C>T||6210|||||rs3121561&COSV65069616||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.3434|0.5461|0.2594|0.1726|0.3091|0.3405|0.2913|0.5233|0.2137|0.3111|0.1794|0.3513|0.292|0.2986|0.3087|0.3513|0.5072|0.3268|0.2538|0.3073|0.1829|0.3612|0.3418|0.2946|0.3471|0.319|0.5461|AFR|benign|0&1|1&1|25741868|||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA||||||||||rs3121561&COSV65069616|4708|1||SNV||||||5||||||||||||||0.3434|0.5461|0.2594|0.1726|0.3091|0.3405|0.2913|0.5233|0.2137|0.3111|0.1794|0.3513|0.292|0.2986|0.3087|0.3513|0.5072|0.3268|0.2538|0.3073|0.1829|0.3612|0.3418|0.2946|0.3471|0.319|0.5461|AFR|benign|0&1|1&1|25741868|||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000242590|Transcript|ENST00000418300|lncRNA||||||||||rs3121561&COSV65069616|33|1||SNV|||YES|||3||||||||||||||0.3434|0.5461|0.2594|0.1726|0.3091|0.3405|0.2913|0.5233|0.2137|0.3111|0.1794|0.3513|0.292|0.2986|0.3087|0.3513|0.5072|0.3268|0.2538|0.3073|0.1829|0.3612|0.3418|0.2946|0.3471|0.319|0.5461|AFR|benign|0&1|1&1|25741868|||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA||||||||||rs3121561&COSV65069616|4729|1||SNV||||||1||||||||||||||0.3434|0.5461|0.2594|0.1726|0.3091|0.3405|0.2913|0.5233|0.2137|0.3111|0.1794|0.3513|0.292|0.2986|0.3087|0.3513|0.5072|0.3268|0.2538|0.3073|0.1829|0.3612|0.3418|0.2946|0.3471|0.319|0.5461|AFR|benign|0&1|1&1|25741868|||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA||||||||||rs3121561&COSV65069616|4693|1||SNV|||YES|||2||||||||||||||0.3434|0.5461|0.2594|0.1726|0.3091|0.3405|0.2913|0.5233|0.2137|0.3111|0.1794|0.3513|0.292|0.2986|0.3087|0.3513|0.5072|0.3268|0.2538|0.3073|0.1829|0.3612|0.3418|0.2946|0.3471|0.319|0.5461|AFR|benign|0&1|1&1|25741868|||||||||,T|non_coding_transcript_exon_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000461111|retained_intron|3/3||ENST00000461111.1:n.2273C>T||2273|||||rs3121561&COSV65069616||1||SNV|HGNC|HGNC:329||||1||||||||1||||||0.3434|0.5461|0.2594|0.1726|0.3091|0.3405|0.2913|0.5233|0.2137|0.3111|0.1794|0.3513|0.292|0.2986|0.3087|0.3513|0.5072|0.3268|0.2538|0.3073|0.1829|0.3612|0.3418|0.2946|0.3471|0.319|0.5461|AFR|benign|0&1|1&1|25741868|||||||||,T|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding|39/39||ENST00000620552.4:c.*19C>T||6276|||||rs3121561&COSV65069616||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.3434|0.5461|0.2594|0.1726|0.3091|0.3405|0.2913|0.5233|0.2137|0.3111|0.1794|0.3513|0.292|0.2986|0.3087|0.3513|0.5072|0.3268|0.2538|0.3073|0.1829|0.3612|0.3418|0.2946|0.3471|0.319|0.5461|AFR|benign|0&1|1&1|25741868|||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding|38/38||ENST00000651234.1:c.*19C>T||6361|||||rs3121561&COSV65069616||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.3434|0.5461|0.2594|0.1726|0.3091|0.3405|0.2913|0.5233|0.2137|0.3111|0.1794|0.3513|0.292|0.2986|0.3087|0.3513|0.5072|0.3268|0.2538|0.3073|0.1829|0.3612|0.3418|0.2946|0.3471|0.319|0.5461|AFR|benign|0&1|1&1|25741868|||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding|35/35||ENST00000652369.1:c.*19C>T||6292|||||rs3121561&COSV65069616||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.3434|0.5461|0.2594|0.1726|0.3091|0.3405|0.2913|0.5233|0.2137|0.3111|0.1794|0.3513|0.292|0.2986|0.3087|0.3513|0.5072|0.3268|0.2538|0.3073|0.1829|0.3612|0.3418|0.2946|0.3471|0.319|0.5461|AFR|benign|0&1|1&1|25741868|||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA||||||||||rs3121561&COSV65069616|4730|1||SNV||||||||||||||||||||0.3434|0.5461|0.2594|0.1726|0.3091|0.3405|0.2913|0.5233|0.2137|0.3111|0.1794|0.3513|0.292|0.2986|0.3087|0.3513|0.5072|0.3268|0.2538|0.3073|0.1829|0.3612|0.3418|0.2946|0.3471|0.319|0.5461|AFR|benign|0&1|1&1|25741868|||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA||||||||||rs3121561&COSV65069616|4687|1||SNV||||||||||||||||||||0.3434|0.5461|0.2594|0.1726|0.3091|0.3405|0.2913|0.5233|0.2137|0.3111|0.1794|0.3513|0.292|0.2986|0.3087|0.3513|0.5072|0.3268|0.2538|0.3073|0.1829|0.3612|0.3418|0.2946|0.3471|0.319|0.5461|AFR|benign|0&1|1&1|25741868|||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA||||||||||rs3121561&COSV65069616|4734|1||SNV||||||||||||||||||||0.3434|0.5461|0.2594|0.1726|0.3091|0.3405|0.2913|0.5233|0.2137|0.3111|0.1794|0.3513|0.292|0.2986|0.3087|0.3513|0.5072|0.3268|0.2538|0.3073|0.1829|0.3612|0.3418|0.2946|0.3471|0.319|0.5461|AFR|benign|0&1|1&1|25741868|||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA||||||||||rs3121561&COSV65069616|4700|1||SNV||||||||||||||||||||0.3434|0.5461|0.2594|0.1726|0.3091|0.3405|0.2913|0.5233|0.2137|0.3111|0.1794|0.3513|0.292|0.2986|0.3087|0.3513|0.5072|0.3268|0.2538|0.3073|0.1829|0.3612|0.3418|0.2946|0.3471|0.319|0.5461|AFR|benign|0&1|1&1|25741868|||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA||||||||||rs3121561&COSV65069616|4700|1||SNV||||||||||||||||||||0.3434|0.5461|0.2594|0.1726|0.3091|0.3405|0.2913|0.5233|0.2137|0.3111|0.1794|0.3513|0.292|0.2986|0.3087|0.3513|0.5072|0.3268|0.2538|0.3073|0.1829|0.3612|0.3418|0.2946|0.3471|0.319|0.5461|AFR|benign|0&1|1&1|25741868||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,31:0.948:31:0,1:0,15:0,17:0,0,15,16 -chr1 1055000 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|13%2C11;DP=25;ECNT=3;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=55;POPAF=7.3;TLOD=81.75;SRC=custom;GRP=custom;CSQ=T|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding|36/36||ENST00000379370.7:c.*19C>T||6210|||||rs3121561&COSV65069616||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.3434|0.5461|0.2594|0.1726|0.3091|0.3405|0.2913|0.5233|0.2137|0.3111|0.1794|0.3513|0.292|0.2986|0.3087|0.3513|0.5072|0.3268|0.2538|0.3073|0.1829|0.3612|0.3418|0.2946|0.3471|0.319|0.5461|AFR|benign|0&1|1&1|25741868|||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA||||||||||rs3121561&COSV65069616|4708|1||SNV||||||5||||||||||||||0.3434|0.5461|0.2594|0.1726|0.3091|0.3405|0.2913|0.5233|0.2137|0.3111|0.1794|0.3513|0.292|0.2986|0.3087|0.3513|0.5072|0.3268|0.2538|0.3073|0.1829|0.3612|0.3418|0.2946|0.3471|0.319|0.5461|AFR|benign|0&1|1&1|25741868|||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000242590|Transcript|ENST00000418300|lncRNA||||||||||rs3121561&COSV65069616|33|1||SNV|||YES|||3||||||||||||||0.3434|0.5461|0.2594|0.1726|0.3091|0.3405|0.2913|0.5233|0.2137|0.3111|0.1794|0.3513|0.292|0.2986|0.3087|0.3513|0.5072|0.3268|0.2538|0.3073|0.1829|0.3612|0.3418|0.2946|0.3471|0.319|0.5461|AFR|benign|0&1|1&1|25741868|||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA||||||||||rs3121561&COSV65069616|4729|1||SNV||||||1||||||||||||||0.3434|0.5461|0.2594|0.1726|0.3091|0.3405|0.2913|0.5233|0.2137|0.3111|0.1794|0.3513|0.292|0.2986|0.3087|0.3513|0.5072|0.3268|0.2538|0.3073|0.1829|0.3612|0.3418|0.2946|0.3471|0.319|0.5461|AFR|benign|0&1|1&1|25741868|||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA||||||||||rs3121561&COSV65069616|4693|1||SNV|||YES|||2||||||||||||||0.3434|0.5461|0.2594|0.1726|0.3091|0.3405|0.2913|0.5233|0.2137|0.3111|0.1794|0.3513|0.292|0.2986|0.3087|0.3513|0.5072|0.3268|0.2538|0.3073|0.1829|0.3612|0.3418|0.2946|0.3471|0.319|0.5461|AFR|benign|0&1|1&1|25741868|||||||||,T|non_coding_transcript_exon_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000461111|retained_intron|3/3||ENST00000461111.1:n.2273C>T||2273|||||rs3121561&COSV65069616||1||SNV|HGNC|HGNC:329||||1||||||||1||||||0.3434|0.5461|0.2594|0.1726|0.3091|0.3405|0.2913|0.5233|0.2137|0.3111|0.1794|0.3513|0.292|0.2986|0.3087|0.3513|0.5072|0.3268|0.2538|0.3073|0.1829|0.3612|0.3418|0.2946|0.3471|0.319|0.5461|AFR|benign|0&1|1&1|25741868|||||||||,T|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding|39/39||ENST00000620552.4:c.*19C>T||6276|||||rs3121561&COSV65069616||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.3434|0.5461|0.2594|0.1726|0.3091|0.3405|0.2913|0.5233|0.2137|0.3111|0.1794|0.3513|0.292|0.2986|0.3087|0.3513|0.5072|0.3268|0.2538|0.3073|0.1829|0.3612|0.3418|0.2946|0.3471|0.319|0.5461|AFR|benign|0&1|1&1|25741868|||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding|38/38||ENST00000651234.1:c.*19C>T||6361|||||rs3121561&COSV65069616||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.3434|0.5461|0.2594|0.1726|0.3091|0.3405|0.2913|0.5233|0.2137|0.3111|0.1794|0.3513|0.292|0.2986|0.3087|0.3513|0.5072|0.3268|0.2538|0.3073|0.1829|0.3612|0.3418|0.2946|0.3471|0.319|0.5461|AFR|benign|0&1|1&1|25741868|||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding|35/35||ENST00000652369.1:c.*19C>T||6292|||||rs3121561&COSV65069616||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.3434|0.5461|0.2594|0.1726|0.3091|0.3405|0.2913|0.5233|0.2137|0.3111|0.1794|0.3513|0.292|0.2986|0.3087|0.3513|0.5072|0.3268|0.2538|0.3073|0.1829|0.3612|0.3418|0.2946|0.3471|0.319|0.5461|AFR|benign|0&1|1&1|25741868|||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA||||||||||rs3121561&COSV65069616|4730|1||SNV||||||||||||||||||||0.3434|0.5461|0.2594|0.1726|0.3091|0.3405|0.2913|0.5233|0.2137|0.3111|0.1794|0.3513|0.292|0.2986|0.3087|0.3513|0.5072|0.3268|0.2538|0.3073|0.1829|0.3612|0.3418|0.2946|0.3471|0.319|0.5461|AFR|benign|0&1|1&1|25741868|||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA||||||||||rs3121561&COSV65069616|4687|1||SNV||||||||||||||||||||0.3434|0.5461|0.2594|0.1726|0.3091|0.3405|0.2913|0.5233|0.2137|0.3111|0.1794|0.3513|0.292|0.2986|0.3087|0.3513|0.5072|0.3268|0.2538|0.3073|0.1829|0.3612|0.3418|0.2946|0.3471|0.319|0.5461|AFR|benign|0&1|1&1|25741868|||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA||||||||||rs3121561&COSV65069616|4734|1||SNV||||||||||||||||||||0.3434|0.5461|0.2594|0.1726|0.3091|0.3405|0.2913|0.5233|0.2137|0.3111|0.1794|0.3513|0.292|0.2986|0.3087|0.3513|0.5072|0.3268|0.2538|0.3073|0.1829|0.3612|0.3418|0.2946|0.3471|0.319|0.5461|AFR|benign|0&1|1&1|25741868|||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA||||||||||rs3121561&COSV65069616|4700|1||SNV||||||||||||||||||||0.3434|0.5461|0.2594|0.1726|0.3091|0.3405|0.2913|0.5233|0.2137|0.3111|0.1794|0.3513|0.292|0.2986|0.3087|0.3513|0.5072|0.3268|0.2538|0.3073|0.1829|0.3612|0.3418|0.2946|0.3471|0.319|0.5461|AFR|benign|0&1|1&1|25741868|||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA||||||||||rs3121561&COSV65069616|4700|1||SNV||||||||||||||||||||0.3434|0.5461|0.2594|0.1726|0.3091|0.3405|0.2913|0.5233|0.2137|0.3111|0.1794|0.3513|0.292|0.2986|0.3087|0.3513|0.5072|0.3268|0.2538|0.3073|0.1829|0.3612|0.3418|0.2946|0.3471|0.319|0.5461|AFR|benign|0&1|1&1|25741868||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,24:0.943:24:0,0:0,12:0,15:0,0,13,11 -chr1 1055037 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|13%2C13;DP=30;ECNT=3;GERMQ=93;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=88;POPAF=7.3;TLOD=92.44;SRC=custom;GRP=custom;CSQ=C|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding|36/36||ENST00000379370.7:c.*56T>C||6247|||||rs2465136&COSV65069776||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.3840|0.6475|0.2723|0.1786|0.3211|0.3834||||||||||0.3856|0.6015|0.3264|0.2705|0.3372|0.1879|0.3653|0.3608|0.303|0.3834|0.3683|0.6475|AFR|benign|0&1|1&1|36224396|||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA||||||||||rs2465136&COSV65069776|4671|1||SNV||||||5||||||||||||||0.3840|0.6475|0.2723|0.1786|0.3211|0.3834||||||||||0.3856|0.6015|0.3264|0.2705|0.3372|0.1879|0.3653|0.3608|0.303|0.3834|0.3683|0.6475|AFR|benign|0&1|1&1|36224396|||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000242590|Transcript|ENST00000418300|lncRNA|1/2||ENST00000418300.1:n.5T>C||5|||||rs2465136&COSV65069776||1||SNV|||YES|||3||||||||||||||0.3840|0.6475|0.2723|0.1786|0.3211|0.3834||||||||||0.3856|0.6015|0.3264|0.2705|0.3372|0.1879|0.3653|0.3608|0.303|0.3834|0.3683|0.6475|AFR|benign|0&1|1&1|36224396|||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA||||||||||rs2465136&COSV65069776|4692|1||SNV||||||1||||||||||||||0.3840|0.6475|0.2723|0.1786|0.3211|0.3834||||||||||0.3856|0.6015|0.3264|0.2705|0.3372|0.1879|0.3653|0.3608|0.303|0.3834|0.3683|0.6475|AFR|benign|0&1|1&1|36224396|||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA||||||||||rs2465136&COSV65069776|4656|1||SNV|||YES|||2||||||||||||||0.3840|0.6475|0.2723|0.1786|0.3211|0.3834||||||||||0.3856|0.6015|0.3264|0.2705|0.3372|0.1879|0.3653|0.3608|0.303|0.3834|0.3683|0.6475|AFR|benign|0&1|1&1|36224396|||||||||,C|non_coding_transcript_exon_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000461111|retained_intron|3/3||ENST00000461111.1:n.2310T>C||2310|||||rs2465136&COSV65069776||1||SNV|HGNC|HGNC:329||||1||||||||1||||||0.3840|0.6475|0.2723|0.1786|0.3211|0.3834||||||||||0.3856|0.6015|0.3264|0.2705|0.3372|0.1879|0.3653|0.3608|0.303|0.3834|0.3683|0.6475|AFR|benign|0&1|1&1|36224396|||||||||,C|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding|39/39||ENST00000620552.4:c.*56T>C||6313|||||rs2465136&COSV65069776||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.3840|0.6475|0.2723|0.1786|0.3211|0.3834||||||||||0.3856|0.6015|0.3264|0.2705|0.3372|0.1879|0.3653|0.3608|0.303|0.3834|0.3683|0.6475|AFR|benign|0&1|1&1|36224396|||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding|38/38||ENST00000651234.1:c.*56T>C||6398|||||rs2465136&COSV65069776||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.3840|0.6475|0.2723|0.1786|0.3211|0.3834||||||||||0.3856|0.6015|0.3264|0.2705|0.3372|0.1879|0.3653|0.3608|0.303|0.3834|0.3683|0.6475|AFR|benign|0&1|1&1|36224396|||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding|35/35||ENST00000652369.1:c.*56T>C||6329|||||rs2465136&COSV65069776||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.3840|0.6475|0.2723|0.1786|0.3211|0.3834||||||||||0.3856|0.6015|0.3264|0.2705|0.3372|0.1879|0.3653|0.3608|0.303|0.3834|0.3683|0.6475|AFR|benign|0&1|1&1|36224396|||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA||||||||||rs2465136&COSV65069776|4693|1||SNV||||||||||||||||||||0.3840|0.6475|0.2723|0.1786|0.3211|0.3834||||||||||0.3856|0.6015|0.3264|0.2705|0.3372|0.1879|0.3653|0.3608|0.303|0.3834|0.3683|0.6475|AFR|benign|0&1|1&1|36224396|||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA||||||||||rs2465136&COSV65069776|4650|1||SNV||||||||||||||||||||0.3840|0.6475|0.2723|0.1786|0.3211|0.3834||||||||||0.3856|0.6015|0.3264|0.2705|0.3372|0.1879|0.3653|0.3608|0.303|0.3834|0.3683|0.6475|AFR|benign|0&1|1&1|36224396|||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA||||||||||rs2465136&COSV65069776|4697|1||SNV||||||||||||||||||||0.3840|0.6475|0.2723|0.1786|0.3211|0.3834||||||||||0.3856|0.6015|0.3264|0.2705|0.3372|0.1879|0.3653|0.3608|0.303|0.3834|0.3683|0.6475|AFR|benign|0&1|1&1|36224396|||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA||||||||||rs2465136&COSV65069776|4663|1||SNV||||||||||||||||||||0.3840|0.6475|0.2723|0.1786|0.3211|0.3834||||||||||0.3856|0.6015|0.3264|0.2705|0.3372|0.1879|0.3653|0.3608|0.303|0.3834|0.3683|0.6475|AFR|benign|0&1|1&1|36224396|||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA||||||||||rs2465136&COSV65069776|4663|1||SNV||||||||||||||||||||0.3840|0.6475|0.2723|0.1786|0.3211|0.3834||||||||||0.3856|0.6015|0.3264|0.2705|0.3372|0.1879|0.3653|0.3608|0.303|0.3834|0.3683|0.6475|AFR|benign|0&1|1&1|36224396||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,26:0.944:26:0,1:0,12:0,15:0,0,13,13 -chr1 1055037 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|18%2C13;DP=33;ECNT=3;GERMQ=93;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=55;POPAF=7.3;TLOD=106.28;SRC=custom;GRP=custom;CSQ=C|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding|36/36||ENST00000379370.7:c.*56T>C||6247|||||rs2465136&COSV65069776||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.3840|0.6475|0.2723|0.1786|0.3211|0.3834||||||||||0.3856|0.6015|0.3264|0.2705|0.3372|0.1879|0.3653|0.3608|0.303|0.3834|0.3683|0.6475|AFR|benign|0&1|1&1|36224396|||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA||||||||||rs2465136&COSV65069776|4671|1||SNV||||||5||||||||||||||0.3840|0.6475|0.2723|0.1786|0.3211|0.3834||||||||||0.3856|0.6015|0.3264|0.2705|0.3372|0.1879|0.3653|0.3608|0.303|0.3834|0.3683|0.6475|AFR|benign|0&1|1&1|36224396|||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000242590|Transcript|ENST00000418300|lncRNA|1/2||ENST00000418300.1:n.5T>C||5|||||rs2465136&COSV65069776||1||SNV|||YES|||3||||||||||||||0.3840|0.6475|0.2723|0.1786|0.3211|0.3834||||||||||0.3856|0.6015|0.3264|0.2705|0.3372|0.1879|0.3653|0.3608|0.303|0.3834|0.3683|0.6475|AFR|benign|0&1|1&1|36224396|||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA||||||||||rs2465136&COSV65069776|4692|1||SNV||||||1||||||||||||||0.3840|0.6475|0.2723|0.1786|0.3211|0.3834||||||||||0.3856|0.6015|0.3264|0.2705|0.3372|0.1879|0.3653|0.3608|0.303|0.3834|0.3683|0.6475|AFR|benign|0&1|1&1|36224396|||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA||||||||||rs2465136&COSV65069776|4656|1||SNV|||YES|||2||||||||||||||0.3840|0.6475|0.2723|0.1786|0.3211|0.3834||||||||||0.3856|0.6015|0.3264|0.2705|0.3372|0.1879|0.3653|0.3608|0.303|0.3834|0.3683|0.6475|AFR|benign|0&1|1&1|36224396|||||||||,C|non_coding_transcript_exon_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000461111|retained_intron|3/3||ENST00000461111.1:n.2310T>C||2310|||||rs2465136&COSV65069776||1||SNV|HGNC|HGNC:329||||1||||||||1||||||0.3840|0.6475|0.2723|0.1786|0.3211|0.3834||||||||||0.3856|0.6015|0.3264|0.2705|0.3372|0.1879|0.3653|0.3608|0.303|0.3834|0.3683|0.6475|AFR|benign|0&1|1&1|36224396|||||||||,C|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding|39/39||ENST00000620552.4:c.*56T>C||6313|||||rs2465136&COSV65069776||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.3840|0.6475|0.2723|0.1786|0.3211|0.3834||||||||||0.3856|0.6015|0.3264|0.2705|0.3372|0.1879|0.3653|0.3608|0.303|0.3834|0.3683|0.6475|AFR|benign|0&1|1&1|36224396|||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding|38/38||ENST00000651234.1:c.*56T>C||6398|||||rs2465136&COSV65069776||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.3840|0.6475|0.2723|0.1786|0.3211|0.3834||||||||||0.3856|0.6015|0.3264|0.2705|0.3372|0.1879|0.3653|0.3608|0.303|0.3834|0.3683|0.6475|AFR|benign|0&1|1&1|36224396|||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding|35/35||ENST00000652369.1:c.*56T>C||6329|||||rs2465136&COSV65069776||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.3840|0.6475|0.2723|0.1786|0.3211|0.3834||||||||||0.3856|0.6015|0.3264|0.2705|0.3372|0.1879|0.3653|0.3608|0.303|0.3834|0.3683|0.6475|AFR|benign|0&1|1&1|36224396|||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA||||||||||rs2465136&COSV65069776|4693|1||SNV||||||||||||||||||||0.3840|0.6475|0.2723|0.1786|0.3211|0.3834||||||||||0.3856|0.6015|0.3264|0.2705|0.3372|0.1879|0.3653|0.3608|0.303|0.3834|0.3683|0.6475|AFR|benign|0&1|1&1|36224396|||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA||||||||||rs2465136&COSV65069776|4650|1||SNV||||||||||||||||||||0.3840|0.6475|0.2723|0.1786|0.3211|0.3834||||||||||0.3856|0.6015|0.3264|0.2705|0.3372|0.1879|0.3653|0.3608|0.303|0.3834|0.3683|0.6475|AFR|benign|0&1|1&1|36224396|||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA||||||||||rs2465136&COSV65069776|4697|1||SNV||||||||||||||||||||0.3840|0.6475|0.2723|0.1786|0.3211|0.3834||||||||||0.3856|0.6015|0.3264|0.2705|0.3372|0.1879|0.3653|0.3608|0.303|0.3834|0.3683|0.6475|AFR|benign|0&1|1&1|36224396|||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA||||||||||rs2465136&COSV65069776|4663|1||SNV||||||||||||||||||||0.3840|0.6475|0.2723|0.1786|0.3211|0.3834||||||||||0.3856|0.6015|0.3264|0.2705|0.3372|0.1879|0.3653|0.3608|0.303|0.3834|0.3683|0.6475|AFR|benign|0&1|1&1|36224396|||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA||||||||||rs2465136&COSV65069776|4663|1||SNV||||||||||||||||||||0.3840|0.6475|0.2723|0.1786|0.3211|0.3834||||||||||0.3856|0.6015|0.3264|0.2705|0.3372|0.1879|0.3653|0.3608|0.303|0.3834|0.3683|0.6475|AFR|benign|0&1|1&1|36224396||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,31:0.955:31:0,0:0,17:0,20:0,0,18,13 -chr1 1055137 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|19%2C14;DP=34;ECNT=3;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=54;POPAF=7.3;TLOD=114.95;SRC=custom;GRP=custom;CSQ=T|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding|36/36||ENST00000379370.7:c.*156C>T||6347|||||rs2710872||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.9179|0.8419|0.928|0.999|0.8877|0.9611||||||||||0.8799|0.8408|0.9221|0.9221|0.9096|0.9996|0.8966|0.9019|0.8754|0.8926|0.9452|0.9996|gnomADg_EAS|benign||1|32314116|||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA||||||||||rs2710872|4571|1||SNV||||||5||||||||||||||0.9179|0.8419|0.928|0.999|0.8877|0.9611||||||||||0.8799|0.8408|0.9221|0.9221|0.9096|0.9996|0.8966|0.9019|0.8754|0.8926|0.9452|0.9996|gnomADg_EAS|benign||1|32314116|||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000242590|Transcript|ENST00000418300|lncRNA|1/2||ENST00000418300.1:n.105C>T||105|||||rs2710872||1||SNV|||YES|||3||||||||||||||0.9179|0.8419|0.928|0.999|0.8877|0.9611||||||||||0.8799|0.8408|0.9221|0.9221|0.9096|0.9996|0.8966|0.9019|0.8754|0.8926|0.9452|0.9996|gnomADg_EAS|benign||1|32314116|||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA||||||||||rs2710872|4592|1||SNV||||||1||||||||||||||0.9179|0.8419|0.928|0.999|0.8877|0.9611||||||||||0.8799|0.8408|0.9221|0.9221|0.9096|0.9996|0.8966|0.9019|0.8754|0.8926|0.9452|0.9996|gnomADg_EAS|benign||1|32314116|||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA||||||||||rs2710872|4556|1||SNV|||YES|||2||||||||||||||0.9179|0.8419|0.928|0.999|0.8877|0.9611||||||||||0.8799|0.8408|0.9221|0.9221|0.9096|0.9996|0.8966|0.9019|0.8754|0.8926|0.9452|0.9996|gnomADg_EAS|benign||1|32314116|||||||||,T|non_coding_transcript_exon_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000461111|retained_intron|3/3||ENST00000461111.1:n.2410C>T||2410|||||rs2710872||1||SNV|HGNC|HGNC:329||||1||||||||1||||||0.9179|0.8419|0.928|0.999|0.8877|0.9611||||||||||0.8799|0.8408|0.9221|0.9221|0.9096|0.9996|0.8966|0.9019|0.8754|0.8926|0.9452|0.9996|gnomADg_EAS|benign||1|32314116|||||||||,T|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding|39/39||ENST00000620552.4:c.*156C>T||6413|||||rs2710872||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.9179|0.8419|0.928|0.999|0.8877|0.9611||||||||||0.8799|0.8408|0.9221|0.9221|0.9096|0.9996|0.8966|0.9019|0.8754|0.8926|0.9452|0.9996|gnomADg_EAS|benign||1|32314116|||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding|38/38||ENST00000651234.1:c.*156C>T||6498|||||rs2710872||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.9179|0.8419|0.928|0.999|0.8877|0.9611||||||||||0.8799|0.8408|0.9221|0.9221|0.9096|0.9996|0.8966|0.9019|0.8754|0.8926|0.9452|0.9996|gnomADg_EAS|benign||1|32314116|||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding|35/35||ENST00000652369.1:c.*156C>T||6429|||||rs2710872||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.9179|0.8419|0.928|0.999|0.8877|0.9611||||||||||0.8799|0.8408|0.9221|0.9221|0.9096|0.9996|0.8966|0.9019|0.8754|0.8926|0.9452|0.9996|gnomADg_EAS|benign||1|32314116|||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA||||||||||rs2710872|4593|1||SNV||||||||||||||||||||0.9179|0.8419|0.928|0.999|0.8877|0.9611||||||||||0.8799|0.8408|0.9221|0.9221|0.9096|0.9996|0.8966|0.9019|0.8754|0.8926|0.9452|0.9996|gnomADg_EAS|benign||1|32314116|||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA||||||||||rs2710872|4550|1||SNV||||||||||||||||||||0.9179|0.8419|0.928|0.999|0.8877|0.9611||||||||||0.8799|0.8408|0.9221|0.9221|0.9096|0.9996|0.8966|0.9019|0.8754|0.8926|0.9452|0.9996|gnomADg_EAS|benign||1|32314116|||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA||||||||||rs2710872|4597|1||SNV||||||||||||||||||||0.9179|0.8419|0.928|0.999|0.8877|0.9611||||||||||0.8799|0.8408|0.9221|0.9221|0.9096|0.9996|0.8966|0.9019|0.8754|0.8926|0.9452|0.9996|gnomADg_EAS|benign||1|32314116|||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA||||||||||rs2710872|4563|1||SNV||||||||||||||||||||0.9179|0.8419|0.928|0.999|0.8877|0.9611||||||||||0.8799|0.8408|0.9221|0.9221|0.9096|0.9996|0.8966|0.9019|0.8754|0.8926|0.9452|0.9996|gnomADg_EAS|benign||1|32314116|||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA||||||||||rs2710872|4563|1||SNV||||||||||||||||||||0.9179|0.8419|0.928|0.999|0.8877|0.9611||||||||||0.8799|0.8408|0.9221|0.9221|0.9096|0.9996|0.8966|0.9019|0.8754|0.8926|0.9452|0.9996|gnomADg_EAS|benign||1|32314116||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,33:0.955:33:0,0:0,18:0,20:0,0,19,14 -chr1 1055137 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|15%2C16;DP=31;ECNT=1;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=70;POPAF=7.3;TLOD=113.38;SRC=custom;GRP=custom;CSQ=T|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding|36/36||ENST00000379370.7:c.*156C>T||6347|||||rs2710872||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.9179|0.8419|0.928|0.999|0.8877|0.9611||||||||||0.8799|0.8408|0.9221|0.9221|0.9096|0.9996|0.8966|0.9019|0.8754|0.8926|0.9452|0.9996|gnomADg_EAS|benign||1|32314116|||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA||||||||||rs2710872|4571|1||SNV||||||5||||||||||||||0.9179|0.8419|0.928|0.999|0.8877|0.9611||||||||||0.8799|0.8408|0.9221|0.9221|0.9096|0.9996|0.8966|0.9019|0.8754|0.8926|0.9452|0.9996|gnomADg_EAS|benign||1|32314116|||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000242590|Transcript|ENST00000418300|lncRNA|1/2||ENST00000418300.1:n.105C>T||105|||||rs2710872||1||SNV|||YES|||3||||||||||||||0.9179|0.8419|0.928|0.999|0.8877|0.9611||||||||||0.8799|0.8408|0.9221|0.9221|0.9096|0.9996|0.8966|0.9019|0.8754|0.8926|0.9452|0.9996|gnomADg_EAS|benign||1|32314116|||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA||||||||||rs2710872|4592|1||SNV||||||1||||||||||||||0.9179|0.8419|0.928|0.999|0.8877|0.9611||||||||||0.8799|0.8408|0.9221|0.9221|0.9096|0.9996|0.8966|0.9019|0.8754|0.8926|0.9452|0.9996|gnomADg_EAS|benign||1|32314116|||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA||||||||||rs2710872|4556|1||SNV|||YES|||2||||||||||||||0.9179|0.8419|0.928|0.999|0.8877|0.9611||||||||||0.8799|0.8408|0.9221|0.9221|0.9096|0.9996|0.8966|0.9019|0.8754|0.8926|0.9452|0.9996|gnomADg_EAS|benign||1|32314116|||||||||,T|non_coding_transcript_exon_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000461111|retained_intron|3/3||ENST00000461111.1:n.2410C>T||2410|||||rs2710872||1||SNV|HGNC|HGNC:329||||1||||||||1||||||0.9179|0.8419|0.928|0.999|0.8877|0.9611||||||||||0.8799|0.8408|0.9221|0.9221|0.9096|0.9996|0.8966|0.9019|0.8754|0.8926|0.9452|0.9996|gnomADg_EAS|benign||1|32314116|||||||||,T|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding|39/39||ENST00000620552.4:c.*156C>T||6413|||||rs2710872||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.9179|0.8419|0.928|0.999|0.8877|0.9611||||||||||0.8799|0.8408|0.9221|0.9221|0.9096|0.9996|0.8966|0.9019|0.8754|0.8926|0.9452|0.9996|gnomADg_EAS|benign||1|32314116|||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding|38/38||ENST00000651234.1:c.*156C>T||6498|||||rs2710872||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.9179|0.8419|0.928|0.999|0.8877|0.9611||||||||||0.8799|0.8408|0.9221|0.9221|0.9096|0.9996|0.8966|0.9019|0.8754|0.8926|0.9452|0.9996|gnomADg_EAS|benign||1|32314116|||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding|35/35||ENST00000652369.1:c.*156C>T||6429|||||rs2710872||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.9179|0.8419|0.928|0.999|0.8877|0.9611||||||||||0.8799|0.8408|0.9221|0.9221|0.9096|0.9996|0.8966|0.9019|0.8754|0.8926|0.9452|0.9996|gnomADg_EAS|benign||1|32314116|||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA||||||||||rs2710872|4593|1||SNV||||||||||||||||||||0.9179|0.8419|0.928|0.999|0.8877|0.9611||||||||||0.8799|0.8408|0.9221|0.9221|0.9096|0.9996|0.8966|0.9019|0.8754|0.8926|0.9452|0.9996|gnomADg_EAS|benign||1|32314116|||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA||||||||||rs2710872|4550|1||SNV||||||||||||||||||||0.9179|0.8419|0.928|0.999|0.8877|0.9611||||||||||0.8799|0.8408|0.9221|0.9221|0.9096|0.9996|0.8966|0.9019|0.8754|0.8926|0.9452|0.9996|gnomADg_EAS|benign||1|32314116|||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA||||||||||rs2710872|4597|1||SNV||||||||||||||||||||0.9179|0.8419|0.928|0.999|0.8877|0.9611||||||||||0.8799|0.8408|0.9221|0.9221|0.9096|0.9996|0.8966|0.9019|0.8754|0.8926|0.9452|0.9996|gnomADg_EAS|benign||1|32314116|||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA||||||||||rs2710872|4563|1||SNV||||||||||||||||||||0.9179|0.8419|0.928|0.999|0.8877|0.9611||||||||||0.8799|0.8408|0.9221|0.9221|0.9096|0.9996|0.8966|0.9019|0.8754|0.8926|0.9452|0.9996|gnomADg_EAS|benign||1|32314116|||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA||||||||||rs2710872|4563|1||SNV||||||||||||||||||||0.9179|0.8419|0.928|0.999|0.8877|0.9611||||||||||0.8799|0.8408|0.9221|0.9221|0.9096|0.9996|0.8966|0.9019|0.8754|0.8926|0.9452|0.9996|gnomADg_EAS|benign||1|32314116||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,31:0.952:31:0,3:0,15:0,19:0,0,15,16 -chr1 1055225 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=14%2C16|1%2C1;DP=33;ECNT=1;GERMQ=93;MBQ=34,31;MFRL=0,0;MMQ=60,60;MPOS=28;POPAF=7.3;TLOD=4.3;SRC=custom;GRP=custom;CSQ=T|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding|36/36||ENST00000379370.7:c.*244C>T||6435|||||||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||||||||||||||||||||||||||||||||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA|||||||||||4483|1||SNV||||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000242590|Transcript|ENST00000418300|lncRNA||1/1|ENST00000418300.1:n.183+10C>T|||||||||1||SNV|||YES|||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA|||||||||||4504|1||SNV||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA|||||||||||4468|1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000461111|retained_intron|3/3||ENST00000461111.1:n.2498C>T||2498|||||||1||SNV|HGNC|HGNC:329||||1||||||||1||||||||||||||||||||||||||||||||||||||||||||||,T|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding|39/39||ENST00000620552.4:c.*244C>T||6501|||||||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||||||||||||||||||||||||||||||||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding|38/38||ENST00000651234.1:c.*244C>T||6586|||||||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||||||||||||||||||||||||||||||||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding|35/35||ENST00000652369.1:c.*244C>T||6517|||||||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||||||||||||||||||||||||||||||||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA|||||||||||4505|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA|||||||||||4462|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA|||||||||||4509|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA|||||||||||4475|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA|||||||||||4475|1||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:30,2:0.079:32:5,0:14,1:22,1:14,16,1,1 -chr1 1055393 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|13%2C17;DP=31;ECNT=2;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=79;POPAF=7.3;TLOD=102.54;SRC=custom;GRP=custom;CSQ=T|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding|36/36||ENST00000379370.7:c.*412C>T||6603|||||rs2799072||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.8460|0.6233|0.9107|0.9931|0.8787|0.9162||||||||||0.8172|0.6444|0.9221|0.8985|0.883|0.9948|0.8933|0.8987|0.867|0.8392|0.8986|0.9948|gnomADg_EAS|||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA||||||||||rs2799072|4315|1||SNV||||||5||||||||||||||0.8460|0.6233|0.9107|0.9931|0.8787|0.9162||||||||||0.8172|0.6444|0.9221|0.8985|0.883|0.9948|0.8933|0.8987|0.867|0.8392|0.8986|0.9948|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000242590|Transcript|ENST00000418300|lncRNA||1/1|ENST00000418300.1:n.183+178C>T|||||||rs2799072||1||SNV|||YES|||3||||||||||||||0.8460|0.6233|0.9107|0.9931|0.8787|0.9162||||||||||0.8172|0.6444|0.9221|0.8985|0.883|0.9948|0.8933|0.8987|0.867|0.8392|0.8986|0.9948|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA||||||||||rs2799072|4336|1||SNV||||||1||||||||||||||0.8460|0.6233|0.9107|0.9931|0.8787|0.9162||||||||||0.8172|0.6444|0.9221|0.8985|0.883|0.9948|0.8933|0.8987|0.867|0.8392|0.8986|0.9948|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA||||||||||rs2799072|4300|1||SNV|||YES|||2||||||||||||||0.8460|0.6233|0.9107|0.9931|0.8787|0.9162||||||||||0.8172|0.6444|0.9221|0.8985|0.883|0.9948|0.8933|0.8987|0.867|0.8392|0.8986|0.9948|gnomADg_EAS|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000461111|retained_intron|3/3||ENST00000461111.1:n.2666C>T||2666|||||rs2799072||1||SNV|HGNC|HGNC:329||||1||||||||1||||||0.8460|0.6233|0.9107|0.9931|0.8787|0.9162||||||||||0.8172|0.6444|0.9221|0.8985|0.883|0.9948|0.8933|0.8987|0.867|0.8392|0.8986|0.9948|gnomADg_EAS|||||||||||||,T|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding|39/39||ENST00000620552.4:c.*412C>T||6669|||||rs2799072||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.8460|0.6233|0.9107|0.9931|0.8787|0.9162||||||||||0.8172|0.6444|0.9221|0.8985|0.883|0.9948|0.8933|0.8987|0.867|0.8392|0.8986|0.9948|gnomADg_EAS|||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding|38/38||ENST00000651234.1:c.*412C>T||6754|||||rs2799072||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.8460|0.6233|0.9107|0.9931|0.8787|0.9162||||||||||0.8172|0.6444|0.9221|0.8985|0.883|0.9948|0.8933|0.8987|0.867|0.8392|0.8986|0.9948|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding|35/35||ENST00000652369.1:c.*412C>T||6685|||||rs2799072||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.8460|0.6233|0.9107|0.9931|0.8787|0.9162||||||||||0.8172|0.6444|0.9221|0.8985|0.883|0.9948|0.8933|0.8987|0.867|0.8392|0.8986|0.9948|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA||||||||||rs2799072|4337|1||SNV||||||||||||||||||||0.8460|0.6233|0.9107|0.9931|0.8787|0.9162||||||||||0.8172|0.6444|0.9221|0.8985|0.883|0.9948|0.8933|0.8987|0.867|0.8392|0.8986|0.9948|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA||||||||||rs2799072|4294|1||SNV||||||||||||||||||||0.8460|0.6233|0.9107|0.9931|0.8787|0.9162||||||||||0.8172|0.6444|0.9221|0.8985|0.883|0.9948|0.8933|0.8987|0.867|0.8392|0.8986|0.9948|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA||||||||||rs2799072|4341|1||SNV||||||||||||||||||||0.8460|0.6233|0.9107|0.9931|0.8787|0.9162||||||||||0.8172|0.6444|0.9221|0.8985|0.883|0.9948|0.8933|0.8987|0.867|0.8392|0.8986|0.9948|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA||||||||||rs2799072|4307|1||SNV||||||||||||||||||||0.8460|0.6233|0.9107|0.9931|0.8787|0.9162||||||||||0.8172|0.6444|0.9221|0.8985|0.883|0.9948|0.8933|0.8987|0.867|0.8392|0.8986|0.9948|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA||||||||||rs2799072|4307|1||SNV||||||||||||||||||||0.8460|0.6233|0.9107|0.9931|0.8787|0.9162||||||||||0.8172|0.6444|0.9221|0.8985|0.883|0.9948|0.8933|0.8987|0.867|0.8392|0.8986|0.9948|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,30:0.951:30:0,5:0,10:0,18:0,0,13,17 -chr1 1055393 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|21%2C21;DP=45;ECNT=3;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=73;POPAF=7.3;TLOD=157.24;SRC=custom;GRP=custom;CSQ=T|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding|36/36||ENST00000379370.7:c.*412C>T||6603|||||rs2799072||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.8460|0.6233|0.9107|0.9931|0.8787|0.9162||||||||||0.8172|0.6444|0.9221|0.8985|0.883|0.9948|0.8933|0.8987|0.867|0.8392|0.8986|0.9948|gnomADg_EAS|||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA||||||||||rs2799072|4315|1||SNV||||||5||||||||||||||0.8460|0.6233|0.9107|0.9931|0.8787|0.9162||||||||||0.8172|0.6444|0.9221|0.8985|0.883|0.9948|0.8933|0.8987|0.867|0.8392|0.8986|0.9948|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000242590|Transcript|ENST00000418300|lncRNA||1/1|ENST00000418300.1:n.183+178C>T|||||||rs2799072||1||SNV|||YES|||3||||||||||||||0.8460|0.6233|0.9107|0.9931|0.8787|0.9162||||||||||0.8172|0.6444|0.9221|0.8985|0.883|0.9948|0.8933|0.8987|0.867|0.8392|0.8986|0.9948|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA||||||||||rs2799072|4336|1||SNV||||||1||||||||||||||0.8460|0.6233|0.9107|0.9931|0.8787|0.9162||||||||||0.8172|0.6444|0.9221|0.8985|0.883|0.9948|0.8933|0.8987|0.867|0.8392|0.8986|0.9948|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA||||||||||rs2799072|4300|1||SNV|||YES|||2||||||||||||||0.8460|0.6233|0.9107|0.9931|0.8787|0.9162||||||||||0.8172|0.6444|0.9221|0.8985|0.883|0.9948|0.8933|0.8987|0.867|0.8392|0.8986|0.9948|gnomADg_EAS|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000461111|retained_intron|3/3||ENST00000461111.1:n.2666C>T||2666|||||rs2799072||1||SNV|HGNC|HGNC:329||||1||||||||1||||||0.8460|0.6233|0.9107|0.9931|0.8787|0.9162||||||||||0.8172|0.6444|0.9221|0.8985|0.883|0.9948|0.8933|0.8987|0.867|0.8392|0.8986|0.9948|gnomADg_EAS|||||||||||||,T|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding|39/39||ENST00000620552.4:c.*412C>T||6669|||||rs2799072||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.8460|0.6233|0.9107|0.9931|0.8787|0.9162||||||||||0.8172|0.6444|0.9221|0.8985|0.883|0.9948|0.8933|0.8987|0.867|0.8392|0.8986|0.9948|gnomADg_EAS|||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding|38/38||ENST00000651234.1:c.*412C>T||6754|||||rs2799072||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.8460|0.6233|0.9107|0.9931|0.8787|0.9162||||||||||0.8172|0.6444|0.9221|0.8985|0.883|0.9948|0.8933|0.8987|0.867|0.8392|0.8986|0.9948|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding|35/35||ENST00000652369.1:c.*412C>T||6685|||||rs2799072||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.8460|0.6233|0.9107|0.9931|0.8787|0.9162||||||||||0.8172|0.6444|0.9221|0.8985|0.883|0.9948|0.8933|0.8987|0.867|0.8392|0.8986|0.9948|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA||||||||||rs2799072|4337|1||SNV||||||||||||||||||||0.8460|0.6233|0.9107|0.9931|0.8787|0.9162||||||||||0.8172|0.6444|0.9221|0.8985|0.883|0.9948|0.8933|0.8987|0.867|0.8392|0.8986|0.9948|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA||||||||||rs2799072|4294|1||SNV||||||||||||||||||||0.8460|0.6233|0.9107|0.9931|0.8787|0.9162||||||||||0.8172|0.6444|0.9221|0.8985|0.883|0.9948|0.8933|0.8987|0.867|0.8392|0.8986|0.9948|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA||||||||||rs2799072|4341|1||SNV||||||||||||||||||||0.8460|0.6233|0.9107|0.9931|0.8787|0.9162||||||||||0.8172|0.6444|0.9221|0.8985|0.883|0.9948|0.8933|0.8987|0.867|0.8392|0.8986|0.9948|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA||||||||||rs2799072|4307|1||SNV||||||||||||||||||||0.8460|0.6233|0.9107|0.9931|0.8787|0.9162||||||||||0.8172|0.6444|0.9221|0.8985|0.883|0.9948|0.8933|0.8987|0.867|0.8392|0.8986|0.9948|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA||||||||||rs2799072|4307|1||SNV||||||||||||||||||||0.8460|0.6233|0.9107|0.9931|0.8787|0.9162||||||||||0.8172|0.6444|0.9221|0.8985|0.883|0.9948|0.8933|0.8987|0.867|0.8392|0.8986|0.9948|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,42:0.964:42:0,4:0,21:0,25:0,0,21,21 -chr1 1055408 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=19%2C19|1%2C1;DP=40;ECNT=3;GERMQ=93;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=95;POPAF=7.3;TLOD=4.98;SRC=custom;GRP=custom;CSQ=C|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding|36/36||ENST00000379370.7:c.*427T>C||6618|||||||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||||||||||||||||||||||||||||||||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA|||||||||||4300|1||SNV||||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000242590|Transcript|ENST00000418300|lncRNA||1/1|ENST00000418300.1:n.183+193T>C|||||||||1||SNV|||YES|||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA|||||||||||4321|1||SNV||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA|||||||||||4285|1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000461111|retained_intron|3/3||ENST00000461111.1:n.2681T>C||2681|||||||1||SNV|HGNC|HGNC:329||||1||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding|39/39||ENST00000620552.4:c.*427T>C||6684|||||||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||||||||||||||||||||||||||||||||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding|38/38||ENST00000651234.1:c.*427T>C||6769|||||||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||||||||||||||||||||||||||||||||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding|35/35||ENST00000652369.1:c.*427T>C||6700|||||||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||||||||||||||||||||||||||||||||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA|||||||||||4322|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA|||||||||||4279|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA|||||||||||4326|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA|||||||||||4292|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA|||||||||||4292|1||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:38,2:0.077:40:3,0:19,1:23,1:19,19,1,1 -chr1 1055426 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|12%2C12;DP=28;ECNT=2;GERMQ=93;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=103;POPAF=7.3;TLOD=85.82;SRC=custom;GRP=custom;CSQ=A|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding|36/36||ENST00000379370.7:c.*445G>A||6636|||||rs2799073||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.8462|0.6241|0.9107|0.9931|0.8787|0.9162||||||||||0.8173|0.6447|0.9221|0.8986|0.8829|0.9948|0.8934|0.8987|0.867|0.8394|0.899|0.9948|gnomADg_EAS|||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA||||||||||rs2799073|4282|1||SNV||||||5||||||||||||||0.8462|0.6241|0.9107|0.9931|0.8787|0.9162||||||||||0.8173|0.6447|0.9221|0.8986|0.8829|0.9948|0.8934|0.8987|0.867|0.8394|0.899|0.9948|gnomADg_EAS|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000242590|Transcript|ENST00000418300|lncRNA||1/1|ENST00000418300.1:n.183+211G>A|||||||rs2799073||1||SNV|||YES|||3||||||||||||||0.8462|0.6241|0.9107|0.9931|0.8787|0.9162||||||||||0.8173|0.6447|0.9221|0.8986|0.8829|0.9948|0.8934|0.8987|0.867|0.8394|0.899|0.9948|gnomADg_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA||||||||||rs2799073|4303|1||SNV||||||1||||||||||||||0.8462|0.6241|0.9107|0.9931|0.8787|0.9162||||||||||0.8173|0.6447|0.9221|0.8986|0.8829|0.9948|0.8934|0.8987|0.867|0.8394|0.899|0.9948|gnomADg_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA||||||||||rs2799073|4267|1||SNV|||YES|||2||||||||||||||0.8462|0.6241|0.9107|0.9931|0.8787|0.9162||||||||||0.8173|0.6447|0.9221|0.8986|0.8829|0.9948|0.8934|0.8987|0.867|0.8394|0.899|0.9948|gnomADg_EAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000461111|retained_intron|3/3||ENST00000461111.1:n.2699G>A||2699|||||rs2799073||1||SNV|HGNC|HGNC:329||||1||||||||1||||||0.8462|0.6241|0.9107|0.9931|0.8787|0.9162||||||||||0.8173|0.6447|0.9221|0.8986|0.8829|0.9948|0.8934|0.8987|0.867|0.8394|0.899|0.9948|gnomADg_EAS|||||||||||||,A|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding|39/39||ENST00000620552.4:c.*445G>A||6702|||||rs2799073||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.8462|0.6241|0.9107|0.9931|0.8787|0.9162||||||||||0.8173|0.6447|0.9221|0.8986|0.8829|0.9948|0.8934|0.8987|0.867|0.8394|0.899|0.9948|gnomADg_EAS|||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding|38/38||ENST00000651234.1:c.*445G>A||6787|||||rs2799073||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.8462|0.6241|0.9107|0.9931|0.8787|0.9162||||||||||0.8173|0.6447|0.9221|0.8986|0.8829|0.9948|0.8934|0.8987|0.867|0.8394|0.899|0.9948|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding|35/35||ENST00000652369.1:c.*445G>A||6718|||||rs2799073||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.8462|0.6241|0.9107|0.9931|0.8787|0.9162||||||||||0.8173|0.6447|0.9221|0.8986|0.8829|0.9948|0.8934|0.8987|0.867|0.8394|0.899|0.9948|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA||||||||||rs2799073|4304|1||SNV||||||||||||||||||||0.8462|0.6241|0.9107|0.9931|0.8787|0.9162||||||||||0.8173|0.6447|0.9221|0.8986|0.8829|0.9948|0.8934|0.8987|0.867|0.8394|0.899|0.9948|gnomADg_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA||||||||||rs2799073|4261|1||SNV||||||||||||||||||||0.8462|0.6241|0.9107|0.9931|0.8787|0.9162||||||||||0.8173|0.6447|0.9221|0.8986|0.8829|0.9948|0.8934|0.8987|0.867|0.8394|0.899|0.9948|gnomADg_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA||||||||||rs2799073|4308|1||SNV||||||||||||||||||||0.8462|0.6241|0.9107|0.9931|0.8787|0.9162||||||||||0.8173|0.6447|0.9221|0.8986|0.8829|0.9948|0.8934|0.8987|0.867|0.8394|0.899|0.9948|gnomADg_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA||||||||||rs2799073|4274|1||SNV||||||||||||||||||||0.8462|0.6241|0.9107|0.9931|0.8787|0.9162||||||||||0.8173|0.6447|0.9221|0.8986|0.8829|0.9948|0.8934|0.8987|0.867|0.8394|0.899|0.9948|gnomADg_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA||||||||||rs2799073|4274|1||SNV||||||||||||||||||||0.8462|0.6241|0.9107|0.9931|0.8787|0.9162||||||||||0.8173|0.6447|0.9221|0.8986|0.8829|0.9948|0.8934|0.8987|0.867|0.8394|0.899|0.9948|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,24:0.943:24:0,2:0,12:0,14:0,0,12,12 -chr1 1055426 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|20%2C19;DP=40;ECNT=3;GERMQ=93;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=99;POPAF=7.3;TLOD=140.91;SRC=custom;GRP=custom;CSQ=A|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding|36/36||ENST00000379370.7:c.*445G>A||6636|||||rs2799073||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.8462|0.6241|0.9107|0.9931|0.8787|0.9162||||||||||0.8173|0.6447|0.9221|0.8986|0.8829|0.9948|0.8934|0.8987|0.867|0.8394|0.899|0.9948|gnomADg_EAS|||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA||||||||||rs2799073|4282|1||SNV||||||5||||||||||||||0.8462|0.6241|0.9107|0.9931|0.8787|0.9162||||||||||0.8173|0.6447|0.9221|0.8986|0.8829|0.9948|0.8934|0.8987|0.867|0.8394|0.899|0.9948|gnomADg_EAS|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000242590|Transcript|ENST00000418300|lncRNA||1/1|ENST00000418300.1:n.183+211G>A|||||||rs2799073||1||SNV|||YES|||3||||||||||||||0.8462|0.6241|0.9107|0.9931|0.8787|0.9162||||||||||0.8173|0.6447|0.9221|0.8986|0.8829|0.9948|0.8934|0.8987|0.867|0.8394|0.899|0.9948|gnomADg_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA||||||||||rs2799073|4303|1||SNV||||||1||||||||||||||0.8462|0.6241|0.9107|0.9931|0.8787|0.9162||||||||||0.8173|0.6447|0.9221|0.8986|0.8829|0.9948|0.8934|0.8987|0.867|0.8394|0.899|0.9948|gnomADg_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA||||||||||rs2799073|4267|1||SNV|||YES|||2||||||||||||||0.8462|0.6241|0.9107|0.9931|0.8787|0.9162||||||||||0.8173|0.6447|0.9221|0.8986|0.8829|0.9948|0.8934|0.8987|0.867|0.8394|0.899|0.9948|gnomADg_EAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000461111|retained_intron|3/3||ENST00000461111.1:n.2699G>A||2699|||||rs2799073||1||SNV|HGNC|HGNC:329||||1||||||||1||||||0.8462|0.6241|0.9107|0.9931|0.8787|0.9162||||||||||0.8173|0.6447|0.9221|0.8986|0.8829|0.9948|0.8934|0.8987|0.867|0.8394|0.899|0.9948|gnomADg_EAS|||||||||||||,A|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding|39/39||ENST00000620552.4:c.*445G>A||6702|||||rs2799073||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.8462|0.6241|0.9107|0.9931|0.8787|0.9162||||||||||0.8173|0.6447|0.9221|0.8986|0.8829|0.9948|0.8934|0.8987|0.867|0.8394|0.899|0.9948|gnomADg_EAS|||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding|38/38||ENST00000651234.1:c.*445G>A||6787|||||rs2799073||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.8462|0.6241|0.9107|0.9931|0.8787|0.9162||||||||||0.8173|0.6447|0.9221|0.8986|0.8829|0.9948|0.8934|0.8987|0.867|0.8394|0.899|0.9948|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding|35/35||ENST00000652369.1:c.*445G>A||6718|||||rs2799073||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.8462|0.6241|0.9107|0.9931|0.8787|0.9162||||||||||0.8173|0.6447|0.9221|0.8986|0.8829|0.9948|0.8934|0.8987|0.867|0.8394|0.899|0.9948|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA||||||||||rs2799073|4304|1||SNV||||||||||||||||||||0.8462|0.6241|0.9107|0.9931|0.8787|0.9162||||||||||0.8173|0.6447|0.9221|0.8986|0.8829|0.9948|0.8934|0.8987|0.867|0.8394|0.899|0.9948|gnomADg_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA||||||||||rs2799073|4261|1||SNV||||||||||||||||||||0.8462|0.6241|0.9107|0.9931|0.8787|0.9162||||||||||0.8173|0.6447|0.9221|0.8986|0.8829|0.9948|0.8934|0.8987|0.867|0.8394|0.899|0.9948|gnomADg_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA||||||||||rs2799073|4308|1||SNV||||||||||||||||||||0.8462|0.6241|0.9107|0.9931|0.8787|0.9162||||||||||0.8173|0.6447|0.9221|0.8986|0.8829|0.9948|0.8934|0.8987|0.867|0.8394|0.899|0.9948|gnomADg_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA||||||||||rs2799073|4274|1||SNV||||||||||||||||||||0.8462|0.6241|0.9107|0.9931|0.8787|0.9162||||||||||0.8173|0.6447|0.9221|0.8986|0.8829|0.9948|0.8934|0.8987|0.867|0.8394|0.899|0.9948|gnomADg_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA||||||||||rs2799073|4274|1||SNV||||||||||||||||||||0.8462|0.6241|0.9107|0.9931|0.8787|0.9162||||||||||0.8173|0.6447|0.9221|0.8986|0.8829|0.9948|0.8934|0.8987|0.867|0.8394|0.899|0.9948|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,39:0.962:39:0,3:0,20:0,24:0,0,20,19 -chr1 1055598 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=24%2C25|1%2C1;DP=52;ECNT=4;GERMQ=93;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=50;POPAF=7.3;TLOD=4.61;SRC=custom;GRP=custom;CSQ=T|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding|36/36||ENST00000379370.7:c.*617C>T||6808|||||||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||||||||||||||||||||||||||||||||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA|||||||||||4110|1||SNV||||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000242590|Transcript|ENST00000418300|lncRNA||1/1|ENST00000418300.1:n.184-300C>T|||||||||1||SNV|||YES|||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA|||||||||||4131|1||SNV||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA|||||||||||4095|1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000461111|retained_intron|3/3||ENST00000461111.1:n.2871C>T||2871|||||||1||SNV|HGNC|HGNC:329||||1||||||||1||||||||||||||||||||||||||||||||||||||||||||||,T|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding|39/39||ENST00000620552.4:c.*617C>T||6874|||||||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||||||||||||||||||||||||||||||||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding|38/38||ENST00000651234.1:c.*617C>T||6959|||||||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||||||||||||||||||||||||||||||||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding|35/35||ENST00000652369.1:c.*617C>T||6890|||||||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||||||||||||||||||||||||||||||||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA|||||||||||4132|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA|||||||||||4089|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA|||||||||||4136|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA|||||||||||4102|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA|||||||||||4102|1||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:49,2:0.065:51:4,0:24,1:28,1:24,25,1,1 -chr1 1055604 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|29%2C32;DP=65;ECNT=1;GERMQ=93;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=73;POPAF=7.3;TLOD=216.66;SRC=custom;GRP=custom;CSQ=A|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding|36/36||ENST00000379370.7:c.*623G>A||6814|||||rs8014||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.9223|0.8555|0.9323|0.999|0.8887|0.9611||||||||||0.8838|0.853|0.9221|0.9241|0.911|0.9996|0.8969|0.9082|0.8759|0.8948|0.9464|0.9996|gnomADg_EAS|||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA||||||||||rs8014|4104|1||SNV||||||5||||||||||||||0.9223|0.8555|0.9323|0.999|0.8887|0.9611||||||||||0.8838|0.853|0.9221|0.9241|0.911|0.9996|0.8969|0.9082|0.8759|0.8948|0.9464|0.9996|gnomADg_EAS|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000242590|Transcript|ENST00000418300|lncRNA||1/1|ENST00000418300.1:n.184-294G>A|||||||rs8014||1||SNV|||YES|||3||||||||||||||0.9223|0.8555|0.9323|0.999|0.8887|0.9611||||||||||0.8838|0.853|0.9221|0.9241|0.911|0.9996|0.8969|0.9082|0.8759|0.8948|0.9464|0.9996|gnomADg_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA||||||||||rs8014|4125|1||SNV||||||1||||||||||||||0.9223|0.8555|0.9323|0.999|0.8887|0.9611||||||||||0.8838|0.853|0.9221|0.9241|0.911|0.9996|0.8969|0.9082|0.8759|0.8948|0.9464|0.9996|gnomADg_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA||||||||||rs8014|4089|1||SNV|||YES|||2||||||||||||||0.9223|0.8555|0.9323|0.999|0.8887|0.9611||||||||||0.8838|0.853|0.9221|0.9241|0.911|0.9996|0.8969|0.9082|0.8759|0.8948|0.9464|0.9996|gnomADg_EAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000461111|retained_intron|3/3||ENST00000461111.1:n.2877G>A||2877|||||rs8014||1||SNV|HGNC|HGNC:329||||1||||||||1||||||0.9223|0.8555|0.9323|0.999|0.8887|0.9611||||||||||0.8838|0.853|0.9221|0.9241|0.911|0.9996|0.8969|0.9082|0.8759|0.8948|0.9464|0.9996|gnomADg_EAS|||||||||||||,A|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding|39/39||ENST00000620552.4:c.*623G>A||6880|||||rs8014||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.9223|0.8555|0.9323|0.999|0.8887|0.9611||||||||||0.8838|0.853|0.9221|0.9241|0.911|0.9996|0.8969|0.9082|0.8759|0.8948|0.9464|0.9996|gnomADg_EAS|||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding|38/38||ENST00000651234.1:c.*623G>A||6965|||||rs8014||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.9223|0.8555|0.9323|0.999|0.8887|0.9611||||||||||0.8838|0.853|0.9221|0.9241|0.911|0.9996|0.8969|0.9082|0.8759|0.8948|0.9464|0.9996|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding|35/35||ENST00000652369.1:c.*623G>A||6896|||||rs8014||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.9223|0.8555|0.9323|0.999|0.8887|0.9611||||||||||0.8838|0.853|0.9221|0.9241|0.911|0.9996|0.8969|0.9082|0.8759|0.8948|0.9464|0.9996|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA||||||||||rs8014|4126|1||SNV||||||||||||||||||||0.9223|0.8555|0.9323|0.999|0.8887|0.9611||||||||||0.8838|0.853|0.9221|0.9241|0.911|0.9996|0.8969|0.9082|0.8759|0.8948|0.9464|0.9996|gnomADg_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA||||||||||rs8014|4083|1||SNV||||||||||||||||||||0.9223|0.8555|0.9323|0.999|0.8887|0.9611||||||||||0.8838|0.853|0.9221|0.9241|0.911|0.9996|0.8969|0.9082|0.8759|0.8948|0.9464|0.9996|gnomADg_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA||||||||||rs8014|4130|1||SNV||||||||||||||||||||0.9223|0.8555|0.9323|0.999|0.8887|0.9611||||||||||0.8838|0.853|0.9221|0.9241|0.911|0.9996|0.8969|0.9082|0.8759|0.8948|0.9464|0.9996|gnomADg_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA||||||||||rs8014|4096|1||SNV||||||||||||||||||||0.9223|0.8555|0.9323|0.999|0.8887|0.9611||||||||||0.8838|0.853|0.9221|0.9241|0.911|0.9996|0.8969|0.9082|0.8759|0.8948|0.9464|0.9996|gnomADg_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA||||||||||rs8014|4096|1||SNV||||||||||||||||||||0.9223|0.8555|0.9323|0.999|0.8887|0.9611||||||||||0.8838|0.853|0.9221|0.9241|0.911|0.9996|0.8969|0.9082|0.8759|0.8948|0.9464|0.9996|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,61:0.974:61:0,3:0,29:0,36:0,0,29,32 -chr1 1055604 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|24%2C25;DP=49;ECNT=4;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=67;POPAF=7.3;TLOD=179.04;SRC=custom;GRP=custom;CSQ=A|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding|36/36||ENST00000379370.7:c.*623G>A||6814|||||rs8014||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.9223|0.8555|0.9323|0.999|0.8887|0.9611||||||||||0.8838|0.853|0.9221|0.9241|0.911|0.9996|0.8969|0.9082|0.8759|0.8948|0.9464|0.9996|gnomADg_EAS|||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA||||||||||rs8014|4104|1||SNV||||||5||||||||||||||0.9223|0.8555|0.9323|0.999|0.8887|0.9611||||||||||0.8838|0.853|0.9221|0.9241|0.911|0.9996|0.8969|0.9082|0.8759|0.8948|0.9464|0.9996|gnomADg_EAS|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000242590|Transcript|ENST00000418300|lncRNA||1/1|ENST00000418300.1:n.184-294G>A|||||||rs8014||1||SNV|||YES|||3||||||||||||||0.9223|0.8555|0.9323|0.999|0.8887|0.9611||||||||||0.8838|0.853|0.9221|0.9241|0.911|0.9996|0.8969|0.9082|0.8759|0.8948|0.9464|0.9996|gnomADg_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA||||||||||rs8014|4125|1||SNV||||||1||||||||||||||0.9223|0.8555|0.9323|0.999|0.8887|0.9611||||||||||0.8838|0.853|0.9221|0.9241|0.911|0.9996|0.8969|0.9082|0.8759|0.8948|0.9464|0.9996|gnomADg_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA||||||||||rs8014|4089|1||SNV|||YES|||2||||||||||||||0.9223|0.8555|0.9323|0.999|0.8887|0.9611||||||||||0.8838|0.853|0.9221|0.9241|0.911|0.9996|0.8969|0.9082|0.8759|0.8948|0.9464|0.9996|gnomADg_EAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000461111|retained_intron|3/3||ENST00000461111.1:n.2877G>A||2877|||||rs8014||1||SNV|HGNC|HGNC:329||||1||||||||1||||||0.9223|0.8555|0.9323|0.999|0.8887|0.9611||||||||||0.8838|0.853|0.9221|0.9241|0.911|0.9996|0.8969|0.9082|0.8759|0.8948|0.9464|0.9996|gnomADg_EAS|||||||||||||,A|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding|39/39||ENST00000620552.4:c.*623G>A||6880|||||rs8014||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.9223|0.8555|0.9323|0.999|0.8887|0.9611||||||||||0.8838|0.853|0.9221|0.9241|0.911|0.9996|0.8969|0.9082|0.8759|0.8948|0.9464|0.9996|gnomADg_EAS|||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding|38/38||ENST00000651234.1:c.*623G>A||6965|||||rs8014||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.9223|0.8555|0.9323|0.999|0.8887|0.9611||||||||||0.8838|0.853|0.9221|0.9241|0.911|0.9996|0.8969|0.9082|0.8759|0.8948|0.9464|0.9996|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding|35/35||ENST00000652369.1:c.*623G>A||6896|||||rs8014||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.9223|0.8555|0.9323|0.999|0.8887|0.9611||||||||||0.8838|0.853|0.9221|0.9241|0.911|0.9996|0.8969|0.9082|0.8759|0.8948|0.9464|0.9996|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA||||||||||rs8014|4126|1||SNV||||||||||||||||||||0.9223|0.8555|0.9323|0.999|0.8887|0.9611||||||||||0.8838|0.853|0.9221|0.9241|0.911|0.9996|0.8969|0.9082|0.8759|0.8948|0.9464|0.9996|gnomADg_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA||||||||||rs8014|4083|1||SNV||||||||||||||||||||0.9223|0.8555|0.9323|0.999|0.8887|0.9611||||||||||0.8838|0.853|0.9221|0.9241|0.911|0.9996|0.8969|0.9082|0.8759|0.8948|0.9464|0.9996|gnomADg_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA||||||||||rs8014|4130|1||SNV||||||||||||||||||||0.9223|0.8555|0.9323|0.999|0.8887|0.9611||||||||||0.8838|0.853|0.9221|0.9241|0.911|0.9996|0.8969|0.9082|0.8759|0.8948|0.9464|0.9996|gnomADg_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA||||||||||rs8014|4096|1||SNV||||||||||||||||||||0.9223|0.8555|0.9323|0.999|0.8887|0.9611||||||||||0.8838|0.853|0.9221|0.9241|0.911|0.9996|0.8969|0.9082|0.8759|0.8948|0.9464|0.9996|gnomADg_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA||||||||||rs8014|4096|1||SNV||||||||||||||||||||0.9223|0.8555|0.9323|0.999|0.8887|0.9611||||||||||0.8838|0.853|0.9221|0.9241|0.911|0.9996|0.8969|0.9082|0.8759|0.8948|0.9464|0.9996|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,49:0.966:49:0,3:0,23:0,27:0,0,24,25 -chr1 1055699 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=18%2C18|1%2C1;DP=42;ECNT=4;GERMQ=93;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=5;POPAF=7.3;TLOD=4.59;SRC=custom;GRP=custom;CSQ=G|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding|36/36||ENST00000379370.7:c.*718A>G||6909|||||||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||||||||||||||||||||||||||||||||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA|||||||||||4009|1||SNV||||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000242590|Transcript|ENST00000418300|lncRNA||1/1|ENST00000418300.1:n.184-199A>G|||||||||1||SNV|||YES|||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA|||||||||||4030|1||SNV||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA|||||||||||3994|1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000461111|retained_intron|3/3||ENST00000461111.1:n.2972A>G||2972|||||||1||SNV|HGNC|HGNC:329||||1||||||||1||||||||||||||||||||||||||||||||||||||||||||||,G|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding|39/39||ENST00000620552.4:c.*718A>G||6975|||||||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||||||||||||||||||||||||||||||||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding|38/38||ENST00000651234.1:c.*718A>G||7060|||||||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||||||||||||||||||||||||||||||||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding|35/35||ENST00000652369.1:c.*718A>G||6991|||||||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||||||||||||||||||||||||||||||||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA|||||||||||4031|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA|||||||||||3988|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA|||||||||||4035|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA|||||||||||4001|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA|||||||||||4001|1||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:36,2:0.078:38:1,0:17,1:22,1:18,18,1,1 -chr1 1055959 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=17%2C27|1%2C1;DP=47;ECNT=1;GERMQ=93;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=32;POPAF=7.3;TLOD=4.51;SRC=custom;GRP=custom;CSQ=T|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding|36/36||ENST00000379370.7:c.*978C>T||7169|||||rs1290783816||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1|||||||||||||||||||||3.941e-05|0.0001447|0|0|0|0|0|0|0|0|0|0.0001447|gnomADg_AFR|||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA||||||||||rs1290783816|3749|1||SNV||||||5|||||||||||||||||||||||||||||3.941e-05|0.0001447|0|0|0|0|0|0|0|0|0|0.0001447|gnomADg_AFR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000242590|Transcript|ENST00000418300|lncRNA|2/2||ENST00000418300.1:n.245C>T||245|||||rs1290783816||1||SNV|||YES|||3|||||||||||||||||||||||||||||3.941e-05|0.0001447|0|0|0|0|0|0|0|0|0|0.0001447|gnomADg_AFR|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA||||||||||rs1290783816|3770|1||SNV||||||1|||||||||||||||||||||||||||||3.941e-05|0.0001447|0|0|0|0|0|0|0|0|0|0.0001447|gnomADg_AFR|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA||||||||||rs1290783816|3734|1||SNV|||YES|||2|||||||||||||||||||||||||||||3.941e-05|0.0001447|0|0|0|0|0|0|0|0|0|0.0001447|gnomADg_AFR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000461111|retained_intron|3/3||ENST00000461111.1:n.3232C>T||3232|||||rs1290783816||1||SNV|HGNC|HGNC:329||||1||||||||1|||||||||||||||||||||3.941e-05|0.0001447|0|0|0|0|0|0|0|0|0|0.0001447|gnomADg_AFR|||||||||||||,T|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding|39/39||ENST00000620552.4:c.*978C>T||7235|||||rs1290783816||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1|||||||||||||||||||||3.941e-05|0.0001447|0|0|0|0|0|0|0|0|0|0.0001447|gnomADg_AFR|||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding|38/38||ENST00000651234.1:c.*978C>T||7320|||||rs1290783816||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1|||||||||||||||||||||3.941e-05|0.0001447|0|0|0|0|0|0|0|0|0|0.0001447|gnomADg_AFR|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding|35/35||ENST00000652369.1:c.*978C>T||7251|||||rs1290783816||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1|||||||||||||||||||||3.941e-05|0.0001447|0|0|0|0|0|0|0|0|0|0.0001447|gnomADg_AFR|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA||||||||||rs1290783816|3771|1||SNV|||||||||||||||||||||||||||||||||||3.941e-05|0.0001447|0|0|0|0|0|0|0|0|0|0.0001447|gnomADg_AFR|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA||||||||||rs1290783816|3728|1||SNV|||||||||||||||||||||||||||||||||||3.941e-05|0.0001447|0|0|0|0|0|0|0|0|0|0.0001447|gnomADg_AFR|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA||||||||||rs1290783816|3775|1||SNV|||||||||||||||||||||||||||||||||||3.941e-05|0.0001447|0|0|0|0|0|0|0|0|0|0.0001447|gnomADg_AFR|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA||||||||||rs1290783816|3741|1||SNV|||||||||||||||||||||||||||||||||||3.941e-05|0.0001447|0|0|0|0|0|0|0|0|0|0.0001447|gnomADg_AFR|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA||||||||||rs1290783816|3741|1||SNV|||||||||||||||||||||||||||||||||||3.941e-05|0.0001447|0|0|0|0|0|0|0|0|0|0.0001447|gnomADg_AFR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:44,2:0.065:46:10,0:17,1:28,1:17,27,1,1 -chr1 1063015 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C1;DP=4;ECNT=2;GERMQ=37;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=54;POPAF=7.3;TLOD=6.98;SRC=custom;GRP=custom;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA||3/4|ENST00000394517.7:n.291-64A>G|||||||rs7526076||1||SNV||||||5||||||||||||||0.8223|0.792|0.817|0.9206|0.7565|0.8333||||||||||0.7706|0.7943|0.7538|0.8162|0.8257|0.9016|0.7553|0.7753|0.7316|0.7801|0.826|0.9206|EAS|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene||||||||||rs7526076|64|1||SNV|||YES|||||||||||||||||0.8223|0.792|0.817|0.9206|0.7565|0.8333||||||||||0.7706|0.7943|0.7538|0.8162|0.8257|0.9016|0.7553|0.7753|0.7316|0.7801|0.826|0.9206|EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA||2/3|ENST00000427998.6:n.233-64A>G|||||||rs7526076||1||SNV||||||1||||||||||||||0.8223|0.792|0.817|0.9206|0.7565|0.8333||||||||||0.7706|0.7943|0.7538|0.8162|0.8257|0.9016|0.7553|0.7753|0.7316|0.7801|0.826|0.9206|EAS|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000433695|lncRNA||||||||||rs7526076|1480|1||SNV||||||2||||||||||||||0.8223|0.792|0.817|0.9206|0.7565|0.8333||||||||||0.7706|0.7943|0.7538|0.8162|0.8257|0.9016|0.7553|0.7753|0.7316|0.7801|0.826|0.9206|EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000273443|Transcript|ENST00000442292|lncRNA||1/1|ENST00000442292.2:n.228+46T>C|||||||rs7526076||-1||SNV|||YES|||1||||||||||||||0.8223|0.792|0.817|0.9206|0.7565|0.8333||||||||||0.7706|0.7943|0.7538|0.8162|0.8257|0.9016|0.7553|0.7753|0.7316|0.7801|0.826|0.9206|EAS|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000451054|lncRNA||||||||||rs7526076|1503|1||SNV||||||2||||||||||||||0.8223|0.792|0.817|0.9206|0.7565|0.8333||||||||||0.7706|0.7943|0.7538|0.8162|0.8257|0.9016|0.7553|0.7753|0.7316|0.7801|0.826|0.9206|EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA||2/3|ENST00000456409.6:n.208-64A>G|||||||rs7526076||1||SNV|||YES|||2||||||||||||||0.8223|0.792|0.817|0.9206|0.7565|0.8333||||||||||0.7706|0.7943|0.7538|0.8162|0.8257|0.9016|0.7553|0.7753|0.7316|0.7801|0.826|0.9206|EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA||1/1|ENST00000685011.1:n.664+2622A>G|||||||rs7526076||1||SNV||||||||||||||||||||0.8223|0.792|0.817|0.9206|0.7565|0.8333||||||||||0.7706|0.7943|0.7538|0.8162|0.8257|0.9016|0.7553|0.7753|0.7316|0.7801|0.826|0.9206|EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA||2/4|ENST00000688131.1:n.214-64A>G|||||||rs7526076||1||SNV||||||||||||||||||||0.8223|0.792|0.817|0.9206|0.7565|0.8333||||||||||0.7706|0.7943|0.7538|0.8162|0.8257|0.9016|0.7553|0.7753|0.7316|0.7801|0.826|0.9206|EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA||2/2|ENST00000692266.1:n.227+2622A>G|||||||rs7526076||1||SNV||||||||||||||||||||0.8223|0.792|0.817|0.9206|0.7565|0.8333||||||||||0.7706|0.7943|0.7538|0.8162|0.8257|0.9016|0.7553|0.7753|0.7316|0.7801|0.826|0.9206|EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA||2/2|ENST00000692821.2:n.200+2622A>G|||||||rs7526076||1||SNV||||||||||||||||||||0.8223|0.792|0.817|0.9206|0.7565|0.8333||||||||||0.7706|0.7943|0.7538|0.8162|0.8257|0.9016|0.7553|0.7753|0.7316|0.7801|0.826|0.9206|EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA||2/2|ENST00000702922.1:n.200+2622A>G|||||||rs7526076||1||SNV||||||||||||||||||||0.8223|0.792|0.817|0.9206|0.7565|0.8333||||||||||0.7706|0.7943|0.7538|0.8162|0.8257|0.9016|0.7553|0.7753|0.7316|0.7801|0.826|0.9206|EAS|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344477|CTCF_binding_site||||||||||rs7526076||||SNV||||||||||||||||||||0.8223|0.792|0.817|0.9206|0.7565|0.8333||||||||||0.7706|0.7943|0.7538|0.8162|0.8257|0.9016|0.7553|0.7753|0.7316|0.7801|0.826|0.9206|EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.5:4:0,0:1,1:1,1:1,1,1,1 -chr1 1063121 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|3%2C0;DP=5;ECNT=1;GERMQ=37;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=33;POPAF=7.3;TLOD=9.83;SRC=custom;GRP=custom;CSQ=C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA|4/5||ENST00000394517.7:n.333G>C||333|||||rs3813193||1||SNV||||||5||||||||||||||0.2067|0.3396|0.1153|0.1022|0.1829|0.2239||||||||||0.2018|0.2938|0.1527|0.1276|0.1737|0.0826|0.2609|0.1835|0.1637|0.1898|0.2179|0.3396|AFR|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene|1/10||ENST00000412397.2:n.43G>C||43|||||rs3813193||1||SNV|||YES|||||||||||||||||0.2067|0.3396|0.1153|0.1022|0.1829|0.2239||||||||||0.2018|0.2938|0.1527|0.1276|0.1737|0.0826|0.2609|0.1835|0.1637|0.1898|0.2179|0.3396|AFR|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA|3/4||ENST00000427998.6:n.275G>C||275|||||rs3813193||1||SNV||||||1||||||||||||||0.2067|0.3396|0.1153|0.1022|0.1829|0.2239||||||||||0.2018|0.2938|0.1527|0.1276|0.1737|0.0826|0.2609|0.1835|0.1637|0.1898|0.2179|0.3396|AFR|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000433695|lncRNA||||||||||rs3813193|1374|1||SNV||||||2||||||||||||||0.2067|0.3396|0.1153|0.1022|0.1829|0.2239||||||||||0.2018|0.2938|0.1527|0.1276|0.1737|0.0826|0.2609|0.1835|0.1637|0.1898|0.2179|0.3396|AFR|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000273443|Transcript|ENST00000442292|lncRNA|1/2||ENST00000442292.2:n.168C>G||168|||||rs3813193||-1||SNV|||YES|||1||||||||||||||0.2067|0.3396|0.1153|0.1022|0.1829|0.2239||||||||||0.2018|0.2938|0.1527|0.1276|0.1737|0.0826|0.2609|0.1835|0.1637|0.1898|0.2179|0.3396|AFR|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000451054|lncRNA||||||||||rs3813193|1397|1||SNV||||||2||||||||||||||0.2067|0.3396|0.1153|0.1022|0.1829|0.2239||||||||||0.2018|0.2938|0.1527|0.1276|0.1737|0.0826|0.2609|0.1835|0.1637|0.1898|0.2179|0.3396|AFR|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA|3/4||ENST00000456409.6:n.250G>C||250|||||rs3813193||1||SNV|||YES|||2||||||||||||||0.2067|0.3396|0.1153|0.1022|0.1829|0.2239||||||||||0.2018|0.2938|0.1527|0.1276|0.1737|0.0826|0.2609|0.1835|0.1637|0.1898|0.2179|0.3396|AFR|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA||1/1|ENST00000685011.1:n.665-2709G>C|||||||rs3813193||1||SNV||||||||||||||||||||0.2067|0.3396|0.1153|0.1022|0.1829|0.2239||||||||||0.2018|0.2938|0.1527|0.1276|0.1737|0.0826|0.2609|0.1835|0.1637|0.1898|0.2179|0.3396|AFR|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA|3/5||ENST00000688131.1:n.256G>C||256|||||rs3813193||1||SNV||||||||||||||||||||0.2067|0.3396|0.1153|0.1022|0.1829|0.2239||||||||||0.2018|0.2938|0.1527|0.1276|0.1737|0.0826|0.2609|0.1835|0.1637|0.1898|0.2179|0.3396|AFR|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA||2/2|ENST00000692266.1:n.228-2709G>C|||||||rs3813193||1||SNV||||||||||||||||||||0.2067|0.3396|0.1153|0.1022|0.1829|0.2239||||||||||0.2018|0.2938|0.1527|0.1276|0.1737|0.0826|0.2609|0.1835|0.1637|0.1898|0.2179|0.3396|AFR|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA||2/2|ENST00000692821.2:n.201-2709G>C|||||||rs3813193||1||SNV||||||||||||||||||||0.2067|0.3396|0.1153|0.1022|0.1829|0.2239||||||||||0.2018|0.2938|0.1527|0.1276|0.1737|0.0826|0.2609|0.1835|0.1637|0.1898|0.2179|0.3396|AFR|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA||2/2|ENST00000702922.1:n.200+2728G>C|||||||rs3813193||1||SNV||||||||||||||||||||0.2067|0.3396|0.1153|0.1022|0.1829|0.2239||||||||||0.2018|0.2938|0.1527|0.1276|0.1737|0.0826|0.2609|0.1835|0.1637|0.1898|0.2179|0.3396|AFR|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344477|CTCF_binding_site||||||||||rs3813193||||SNV||||||||||||||||||||0.2067|0.3396|0.1153|0.1022|0.1829|0.2239||||||||||0.2018|0.2938|0.1527|0.1276|0.1737|0.0826|0.2609|0.1835|0.1637|0.1898|0.2179|0.3396|AFR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,3:0.667:5:0,0:1,3:1,3:1,1,3,0 -chr1 1063121 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|0%2C1;DP=3;ECNT=2;GERMQ=39;MBQ=34,34;MFRL=0,0;MMQ=60,60;MPOS=125;POPAF=7.3;TLOD=3.1;SRC=custom;GRP=custom;CSQ=C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA|4/5||ENST00000394517.7:n.333G>C||333|||||rs3813193||1||SNV||||||5||||||||||||||0.2067|0.3396|0.1153|0.1022|0.1829|0.2239||||||||||0.2018|0.2938|0.1527|0.1276|0.1737|0.0826|0.2609|0.1835|0.1637|0.1898|0.2179|0.3396|AFR|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene|1/10||ENST00000412397.2:n.43G>C||43|||||rs3813193||1||SNV|||YES|||||||||||||||||0.2067|0.3396|0.1153|0.1022|0.1829|0.2239||||||||||0.2018|0.2938|0.1527|0.1276|0.1737|0.0826|0.2609|0.1835|0.1637|0.1898|0.2179|0.3396|AFR|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA|3/4||ENST00000427998.6:n.275G>C||275|||||rs3813193||1||SNV||||||1||||||||||||||0.2067|0.3396|0.1153|0.1022|0.1829|0.2239||||||||||0.2018|0.2938|0.1527|0.1276|0.1737|0.0826|0.2609|0.1835|0.1637|0.1898|0.2179|0.3396|AFR|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000433695|lncRNA||||||||||rs3813193|1374|1||SNV||||||2||||||||||||||0.2067|0.3396|0.1153|0.1022|0.1829|0.2239||||||||||0.2018|0.2938|0.1527|0.1276|0.1737|0.0826|0.2609|0.1835|0.1637|0.1898|0.2179|0.3396|AFR|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000273443|Transcript|ENST00000442292|lncRNA|1/2||ENST00000442292.2:n.168C>G||168|||||rs3813193||-1||SNV|||YES|||1||||||||||||||0.2067|0.3396|0.1153|0.1022|0.1829|0.2239||||||||||0.2018|0.2938|0.1527|0.1276|0.1737|0.0826|0.2609|0.1835|0.1637|0.1898|0.2179|0.3396|AFR|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000451054|lncRNA||||||||||rs3813193|1397|1||SNV||||||2||||||||||||||0.2067|0.3396|0.1153|0.1022|0.1829|0.2239||||||||||0.2018|0.2938|0.1527|0.1276|0.1737|0.0826|0.2609|0.1835|0.1637|0.1898|0.2179|0.3396|AFR|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA|3/4||ENST00000456409.6:n.250G>C||250|||||rs3813193||1||SNV|||YES|||2||||||||||||||0.2067|0.3396|0.1153|0.1022|0.1829|0.2239||||||||||0.2018|0.2938|0.1527|0.1276|0.1737|0.0826|0.2609|0.1835|0.1637|0.1898|0.2179|0.3396|AFR|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA||1/1|ENST00000685011.1:n.665-2709G>C|||||||rs3813193||1||SNV||||||||||||||||||||0.2067|0.3396|0.1153|0.1022|0.1829|0.2239||||||||||0.2018|0.2938|0.1527|0.1276|0.1737|0.0826|0.2609|0.1835|0.1637|0.1898|0.2179|0.3396|AFR|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA|3/5||ENST00000688131.1:n.256G>C||256|||||rs3813193||1||SNV||||||||||||||||||||0.2067|0.3396|0.1153|0.1022|0.1829|0.2239||||||||||0.2018|0.2938|0.1527|0.1276|0.1737|0.0826|0.2609|0.1835|0.1637|0.1898|0.2179|0.3396|AFR|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA||2/2|ENST00000692266.1:n.228-2709G>C|||||||rs3813193||1||SNV||||||||||||||||||||0.2067|0.3396|0.1153|0.1022|0.1829|0.2239||||||||||0.2018|0.2938|0.1527|0.1276|0.1737|0.0826|0.2609|0.1835|0.1637|0.1898|0.2179|0.3396|AFR|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA||2/2|ENST00000692821.2:n.201-2709G>C|||||||rs3813193||1||SNV||||||||||||||||||||0.2067|0.3396|0.1153|0.1022|0.1829|0.2239||||||||||0.2018|0.2938|0.1527|0.1276|0.1737|0.0826|0.2609|0.1835|0.1637|0.1898|0.2179|0.3396|AFR|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA||2/2|ENST00000702922.1:n.200+2728G>C|||||||rs3813193||1||SNV||||||||||||||||||||0.2067|0.3396|0.1153|0.1022|0.1829|0.2239||||||||||0.2018|0.2938|0.1527|0.1276|0.1737|0.0826|0.2609|0.1835|0.1637|0.1898|0.2179|0.3396|AFR|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344477|CTCF_binding_site||||||||||rs3813193||||SNV||||||||||||||||||||0.2067|0.3396|0.1153|0.1022|0.1829|0.2239||||||||||0.2018|0.2938|0.1527|0.1276|0.1737|0.0826|0.2609|0.1835|0.1637|0.1898|0.2179|0.3396|AFR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,1:0.5:3:0,0:1,0:1,1:1,1,0,1 -chr1 1064564 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,30;MFRL=0,0;MMQ=60,60;MPOS=145;POPAF=7.3;TLOD=6.48;SRC=custom;GRP=custom;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA||4/4|ENST00000394517.7:n.414-1266T>C|||||||||1||SNV||||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene|4/10||ENST00000412397.2:n.477T>C||477|||||||1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA||3/3|ENST00000427998.6:n.356-1266T>C|||||||||1||SNV||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000433695|lncRNA|1/2||ENST00000433695.1:n.70T>C||70|||||||1||SNV||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000273443|Transcript|ENST00000442292|lncRNA|||||||||||1276|-1||SNV|||YES|||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000451054|lncRNA|1/2||ENST00000451054.1:n.47T>C||47|||||||1||SNV||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA||3/3|ENST00000456409.6:n.331-1266T>C|||||||||1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA||1/1|ENST00000685011.1:n.665-1266T>C|||||||||1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA||4/4|ENST00000688131.1:n.532+163T>C|||||||||1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA||2/2|ENST00000692266.1:n.228-1266T>C|||||||||1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA||2/2|ENST00000692821.2:n.201-1266T>C|||||||||1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA||2/2|ENST00000702922.1:n.201-1385T>C|||||||||1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344474|promoter||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.75:2:0,2:0,0:0,2:0,0,0,2 -chr1 1065797 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=53%2C37|4%2C2;DP=97;ECNT=1;GERMQ=93;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=69;POPAF=7.3;TLOD=15.3;SRC=custom;GRP=custom;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA||4/4|ENST00000394517.7:n.414-33G>C|||||||rs4970401||1||SNV||||||5||||||||||||||0.7298|0.4932|0.7795|0.9137|0.7425|0.8119||||||||||0.6754|0.4868|0.7484|0.7729|0.8111|0.8961|0.7547|0.742|0.7211|0.6925|0.8024|0.9137|EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene||5/9|ENST00000412397.2:n.626+322G>C|||||||rs4970401||1||SNV|||YES|||||||||||||||||0.7298|0.4932|0.7795|0.9137|0.7425|0.8119||||||||||0.6754|0.4868|0.7484|0.7729|0.8111|0.8961|0.7547|0.742|0.7211|0.6925|0.8024|0.9137|EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA||3/3|ENST00000427998.6:n.356-33G>C|||||||rs4970401||1||SNV||||||1||||||||||||||0.7298|0.4932|0.7795|0.9137|0.7425|0.8119||||||||||0.6754|0.4868|0.7484|0.7729|0.8111|0.8961|0.7547|0.742|0.7211|0.6925|0.8024|0.9137|EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000433695|lncRNA||1/1|ENST00000433695.1:n.96-33G>C|||||||rs4970401||1||SNV||||||2||||||||||||||0.7298|0.4932|0.7795|0.9137|0.7425|0.8119||||||||||0.6754|0.4868|0.7484|0.7729|0.8111|0.8961|0.7547|0.742|0.7211|0.6925|0.8024|0.9137|EAS|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000273443|Transcript|ENST00000442292|lncRNA||||||||||rs4970401|2509|-1||SNV|||YES|||1||||||||||||||0.7298|0.4932|0.7795|0.9137|0.7425|0.8119||||||||||0.6754|0.4868|0.7484|0.7729|0.8111|0.8961|0.7547|0.742|0.7211|0.6925|0.8024|0.9137|EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000451054|lncRNA||1/1|ENST00000451054.1:n.73-152G>C|||||||rs4970401||1||SNV||||||2||||||||||||||0.7298|0.4932|0.7795|0.9137|0.7425|0.8119||||||||||0.6754|0.4868|0.7484|0.7729|0.8111|0.8961|0.7547|0.742|0.7211|0.6925|0.8024|0.9137|EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA||3/3|ENST00000456409.6:n.331-33G>C|||||||rs4970401||1||SNV|||YES|||2||||||||||||||0.7298|0.4932|0.7795|0.9137|0.7425|0.8119||||||||||0.6754|0.4868|0.7484|0.7729|0.8111|0.8961|0.7547|0.742|0.7211|0.6925|0.8024|0.9137|EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA||1/1|ENST00000685011.1:n.665-33G>C|||||||rs4970401||1||SNV||||||||||||||||||||0.7298|0.4932|0.7795|0.9137|0.7425|0.8119||||||||||0.6754|0.4868|0.7484|0.7729|0.8111|0.8961|0.7547|0.742|0.7211|0.6925|0.8024|0.9137|EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA||4/4|ENST00000688131.1:n.533-33G>C|||||||rs4970401||1||SNV||||||||||||||||||||0.7298|0.4932|0.7795|0.9137|0.7425|0.8119||||||||||0.6754|0.4868|0.7484|0.7729|0.8111|0.8961|0.7547|0.742|0.7211|0.6925|0.8024|0.9137|EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA||2/2|ENST00000692266.1:n.228-33G>C|||||||rs4970401||1||SNV||||||||||||||||||||0.7298|0.4932|0.7795|0.9137|0.7425|0.8119||||||||||0.6754|0.4868|0.7484|0.7729|0.8111|0.8961|0.7547|0.742|0.7211|0.6925|0.8024|0.9137|EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA||2/2|ENST00000692821.2:n.201-33G>C|||||||rs4970401||1||SNV||||||||||||||||||||0.7298|0.4932|0.7795|0.9137|0.7425|0.8119||||||||||0.6754|0.4868|0.7484|0.7729|0.8111|0.8961|0.7547|0.742|0.7211|0.6925|0.8024|0.9137|EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA||2/2|ENST00000702922.1:n.201-152G>C|||||||rs4970401||1||SNV||||||||||||||||||||0.7298|0.4932|0.7795|0.9137|0.7425|0.8119||||||||||0.6754|0.4868|0.7484|0.7729|0.8111|0.8961|0.7547|0.742|0.7211|0.6925|0.8024|0.9137|EAS|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000129|promoter||||||||||rs4970401||||SNV||||||||||||||||||||0.7298|0.4932|0.7795|0.9137|0.7425|0.8119||||||||||0.6754|0.4868|0.7484|0.7729|0.8111|0.8961|0.7547|0.742|0.7211|0.6925|0.8024|0.9137|EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:90,6:0.085:96:0,0:51,4:53,4:53,37,4,2 -chr1 1065797 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=41%2C31|1%2C1;DP=75;ECNT=1;GERMQ=93;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=52;POPAF=7.3;TLOD=4.18;SRC=custom;GRP=custom;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA||4/4|ENST00000394517.7:n.414-33G>C|||||||rs4970401||1||SNV||||||5||||||||||||||0.7298|0.4932|0.7795|0.9137|0.7425|0.8119||||||||||0.6754|0.4868|0.7484|0.7729|0.8111|0.8961|0.7547|0.742|0.7211|0.6925|0.8024|0.9137|EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene||5/9|ENST00000412397.2:n.626+322G>C|||||||rs4970401||1||SNV|||YES|||||||||||||||||0.7298|0.4932|0.7795|0.9137|0.7425|0.8119||||||||||0.6754|0.4868|0.7484|0.7729|0.8111|0.8961|0.7547|0.742|0.7211|0.6925|0.8024|0.9137|EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA||3/3|ENST00000427998.6:n.356-33G>C|||||||rs4970401||1||SNV||||||1||||||||||||||0.7298|0.4932|0.7795|0.9137|0.7425|0.8119||||||||||0.6754|0.4868|0.7484|0.7729|0.8111|0.8961|0.7547|0.742|0.7211|0.6925|0.8024|0.9137|EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000433695|lncRNA||1/1|ENST00000433695.1:n.96-33G>C|||||||rs4970401||1||SNV||||||2||||||||||||||0.7298|0.4932|0.7795|0.9137|0.7425|0.8119||||||||||0.6754|0.4868|0.7484|0.7729|0.8111|0.8961|0.7547|0.742|0.7211|0.6925|0.8024|0.9137|EAS|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000273443|Transcript|ENST00000442292|lncRNA||||||||||rs4970401|2509|-1||SNV|||YES|||1||||||||||||||0.7298|0.4932|0.7795|0.9137|0.7425|0.8119||||||||||0.6754|0.4868|0.7484|0.7729|0.8111|0.8961|0.7547|0.742|0.7211|0.6925|0.8024|0.9137|EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000451054|lncRNA||1/1|ENST00000451054.1:n.73-152G>C|||||||rs4970401||1||SNV||||||2||||||||||||||0.7298|0.4932|0.7795|0.9137|0.7425|0.8119||||||||||0.6754|0.4868|0.7484|0.7729|0.8111|0.8961|0.7547|0.742|0.7211|0.6925|0.8024|0.9137|EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA||3/3|ENST00000456409.6:n.331-33G>C|||||||rs4970401||1||SNV|||YES|||2||||||||||||||0.7298|0.4932|0.7795|0.9137|0.7425|0.8119||||||||||0.6754|0.4868|0.7484|0.7729|0.8111|0.8961|0.7547|0.742|0.7211|0.6925|0.8024|0.9137|EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA||1/1|ENST00000685011.1:n.665-33G>C|||||||rs4970401||1||SNV||||||||||||||||||||0.7298|0.4932|0.7795|0.9137|0.7425|0.8119||||||||||0.6754|0.4868|0.7484|0.7729|0.8111|0.8961|0.7547|0.742|0.7211|0.6925|0.8024|0.9137|EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA||4/4|ENST00000688131.1:n.533-33G>C|||||||rs4970401||1||SNV||||||||||||||||||||0.7298|0.4932|0.7795|0.9137|0.7425|0.8119||||||||||0.6754|0.4868|0.7484|0.7729|0.8111|0.8961|0.7547|0.742|0.7211|0.6925|0.8024|0.9137|EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA||2/2|ENST00000692266.1:n.228-33G>C|||||||rs4970401||1||SNV||||||||||||||||||||0.7298|0.4932|0.7795|0.9137|0.7425|0.8119||||||||||0.6754|0.4868|0.7484|0.7729|0.8111|0.8961|0.7547|0.742|0.7211|0.6925|0.8024|0.9137|EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA||2/2|ENST00000692821.2:n.201-33G>C|||||||rs4970401||1||SNV||||||||||||||||||||0.7298|0.4932|0.7795|0.9137|0.7425|0.8119||||||||||0.6754|0.4868|0.7484|0.7729|0.8111|0.8961|0.7547|0.742|0.7211|0.6925|0.8024|0.9137|EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA||2/2|ENST00000702922.1:n.201-152G>C|||||||rs4970401||1||SNV||||||||||||||||||||0.7298|0.4932|0.7795|0.9137|0.7425|0.8119||||||||||0.6754|0.4868|0.7484|0.7729|0.8111|0.8961|0.7547|0.742|0.7211|0.6925|0.8024|0.9137|EAS|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000129|promoter||||||||||rs4970401||||SNV||||||||||||||||||||0.7298|0.4932|0.7795|0.9137|0.7425|0.8119||||||||||0.6754|0.4868|0.7484|0.7729|0.8111|0.8961|0.7547|0.742|0.7211|0.6925|0.8024|0.9137|EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:72,2:0.044:74:0,0:41,1:42,1:41,31,1,1 -chr1 1065963 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=15%2C18|1%2C1;DP=37;ECNT=1;GERMQ=93;MBQ=32,32;MFRL=0,0;MMQ=60,60;MPOS=6;POPAF=7.3;TLOD=4.6;SRC=custom;GRP=custom;CSQ=T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA|5/5||ENST00000394517.7:n.547C>T||547|||||rs543482594||1||SNV||||||5|||||||||||||||||||||||||||||0.0002037|0.0002896|0|0|0|0|9.413e-05|0|0.0002499|0.0004776|0|0.0004776|gnomADg_OTH|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene||5/9|ENST00000412397.2:n.626+488C>T|||||||rs543482594||1||SNV|||YES||||||||||||||||||||||||||||||||0.0002037|0.0002896|0|0|0|0|9.413e-05|0|0.0002499|0.0004776|0|0.0004776|gnomADg_OTH|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA|4/4||ENST00000427998.6:n.489C>T||489|||||rs543482594||1||SNV||||||1|||||||||||||||||||||||||||||0.0002037|0.0002896|0|0|0|0|9.413e-05|0|0.0002499|0.0004776|0|0.0004776|gnomADg_OTH|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000433695|lncRNA|2/2||ENST00000433695.1:n.229C>T||229|||||rs543482594||1||SNV||||||2|||||||||||||||||||||||||||||0.0002037|0.0002896|0|0|0|0|9.413e-05|0|0.0002499|0.0004776|0|0.0004776|gnomADg_OTH|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000273443|Transcript|ENST00000442292|lncRNA||||||||||rs543482594|2675|-1||SNV|||YES|||1|||||||||||||||||||||||||||||0.0002037|0.0002896|0|0|0|0|9.413e-05|0|0.0002499|0.0004776|0|0.0004776|gnomADg_OTH|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000451054|lncRNA|2/2||ENST00000451054.1:n.87C>T||87|||||rs543482594||1||SNV||||||2|||||||||||||||||||||||||||||0.0002037|0.0002896|0|0|0|0|9.413e-05|0|0.0002499|0.0004776|0|0.0004776|gnomADg_OTH|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA|4/4||ENST00000456409.6:n.464C>T||464|||||rs543482594||1||SNV|||YES|||2|||||||||||||||||||||||||||||0.0002037|0.0002896|0|0|0|0|9.413e-05|0|0.0002499|0.0004776|0|0.0004776|gnomADg_OTH|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA|2/2||ENST00000685011.1:n.798C>T||798|||||rs543482594||1||SNV|||||||||||||||||||||||||||||||||||0.0002037|0.0002896|0|0|0|0|9.413e-05|0|0.0002499|0.0004776|0|0.0004776|gnomADg_OTH|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA|5/5||ENST00000688131.1:n.666C>T||666|||||rs543482594||1||SNV|||||||||||||||||||||||||||||||||||0.0002037|0.0002896|0|0|0|0|9.413e-05|0|0.0002499|0.0004776|0|0.0004776|gnomADg_OTH|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA|3/3||ENST00000692266.1:n.361C>T||361|||||rs543482594||1||SNV|||||||||||||||||||||||||||||||||||0.0002037|0.0002896|0|0|0|0|9.413e-05|0|0.0002499|0.0004776|0|0.0004776|gnomADg_OTH|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA|3/3||ENST00000692821.2:n.334C>T||334|||||rs543482594||1||SNV|||||||||||||||||||||||||||||||||||0.0002037|0.0002896|0|0|0|0|9.413e-05|0|0.0002499|0.0004776|0|0.0004776|gnomADg_OTH|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA|3/3||ENST00000702922.1:n.215C>T||215|||||rs543482594||1||SNV|||||||||||||||||||||||||||||||||||0.0002037|0.0002896|0|0|0|0|9.413e-05|0|0.0002499|0.0004776|0|0.0004776|gnomADg_OTH||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:33,2:0.079:35:6,0:15,1:22,1:15,18,1,1 -chr1 1066087 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=19%2C15|1%2C1;DP=36;ECNT=4;GERMQ=93;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=102;POPAF=7.3;TLOD=4.74;SRC=custom;GRP=custom;CSQ=T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA|5/5||ENST00000394517.7:n.671C>T||671|||||||1||SNV||||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene||5/9|ENST00000412397.2:n.627-500C>T|||||||||1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA|4/4||ENST00000427998.6:n.613C>T||613|||||||1||SNV||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000433695|lncRNA|2/2||ENST00000433695.1:n.353C>T||353|||||||1||SNV||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000273443|Transcript|ENST00000442292|lncRNA|||||||||||2799|-1||SNV|||YES|||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000451054|lncRNA|2/2||ENST00000451054.1:n.211C>T||211|||||||1||SNV||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding|||||||||||4880|-1||SNV|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF||||||||||||||||||||||||||||||||||||||||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA|4/4||ENST00000456409.6:n.588C>T||588|||||||1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA|2/2||ENST00000685011.1:n.922C>T||922|||||||1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA|5/5||ENST00000688131.1:n.790C>T||790|||||||1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA|3/3||ENST00000692266.1:n.485C>T||485|||||||1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA|3/3||ENST00000692821.2:n.458C>T||458|||||||1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA|3/3||ENST00000702922.1:n.339C>T||339|||||||1||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:34,2:0.083:36:1,0:19,1:21,1:19,15,1,1 -chr1 1066088 . A C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=19%2C15|1%2C1;DP=36;ECNT=4;GERMQ=93;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=96;POPAF=7.3;TLOD=4.41;SRC=custom;GRP=custom;CSQ=C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA|5/5||ENST00000394517.7:n.672A>C||672|||||||1||SNV||||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene||5/9|ENST00000412397.2:n.627-499A>C|||||||||1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA|4/4||ENST00000427998.6:n.614A>C||614|||||||1||SNV||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000433695|lncRNA|2/2||ENST00000433695.1:n.354A>C||354|||||||1||SNV||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000273443|Transcript|ENST00000442292|lncRNA|||||||||||2800|-1||SNV|||YES|||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000451054|lncRNA|2/2||ENST00000451054.1:n.212A>C||212|||||||1||SNV||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding|||||||||||4879|-1||SNV|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF||||||||||||||||||||||||||||||||||||||||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA|4/4||ENST00000456409.6:n.589A>C||589|||||||1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA|2/2||ENST00000685011.1:n.923A>C||923|||||||1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA|5/5||ENST00000688131.1:n.791A>C||791|||||||1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA|3/3||ENST00000692266.1:n.486A>C||486|||||||1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA|3/3||ENST00000692821.2:n.459A>C||459|||||||1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA|3/3||ENST00000702922.1:n.340A>C||340|||||||1||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:34,2:0.083:36:1,0:19,1:21,1:19,15,1,1 -chr1 1066174 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=16%2C18|1%2C1;DP=37;ECNT=4;GERMQ=93;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=25;POPAF=7.3;TLOD=4.89;SRC=custom;GRP=custom;CSQ=T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA|5/5||ENST00000394517.7:n.758C>T||758|||||rs923288222||1||SNV||||||5|||||||||||||||||||||||||||||1.971e-05|4.827e-05|0|0|0|0|0|0|1.47e-05|0|0|4.827e-05|gnomADg_AFR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene||5/9|ENST00000412397.2:n.627-413C>T|||||||rs923288222||1||SNV|||YES||||||||||||||||||||||||||||||||1.971e-05|4.827e-05|0|0|0|0|0|0|1.47e-05|0|0|4.827e-05|gnomADg_AFR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA|4/4||ENST00000427998.6:n.700C>T||700|||||rs923288222||1||SNV||||||1|||||||||||||||||||||||||||||1.971e-05|4.827e-05|0|0|0|0|0|0|1.47e-05|0|0|4.827e-05|gnomADg_AFR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000433695|lncRNA|2/2||ENST00000433695.1:n.440C>T||440|||||rs923288222||1||SNV||||||2|||||||||||||||||||||||||||||1.971e-05|4.827e-05|0|0|0|0|0|0|1.47e-05|0|0|4.827e-05|gnomADg_AFR|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000273443|Transcript|ENST00000442292|lncRNA||||||||||rs923288222|2886|-1||SNV|||YES|||1|||||||||||||||||||||||||||||1.971e-05|4.827e-05|0|0|0|0|0|0|1.47e-05|0|0|4.827e-05|gnomADg_AFR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000451054|lncRNA|2/2||ENST00000451054.1:n.298C>T||298|||||rs923288222||1||SNV||||||2|||||||||||||||||||||||||||||1.971e-05|4.827e-05|0|0|0|0|0|0|1.47e-05|0|0|4.827e-05|gnomADg_AFR|||||||||||||,T|downstream_gene_variant|MODIFIER|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding||||||||||rs923288222|4793|-1||SNV|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF|||||||||||||||||||||||1.971e-05|4.827e-05|0|0|0|0|0|0|1.47e-05|0|0|4.827e-05|gnomADg_AFR|||||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA|4/4||ENST00000456409.6:n.675C>T||675|||||rs923288222||1||SNV|||YES|||2|||||||||||||||||||||||||||||1.971e-05|4.827e-05|0|0|0|0|0|0|1.47e-05|0|0|4.827e-05|gnomADg_AFR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA|2/2||ENST00000685011.1:n.1009C>T||1009|||||rs923288222||1||SNV|||||||||||||||||||||||||||||||||||1.971e-05|4.827e-05|0|0|0|0|0|0|1.47e-05|0|0|4.827e-05|gnomADg_AFR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA|5/5||ENST00000688131.1:n.877C>T||877|||||rs923288222||1||SNV|||||||||||||||||||||||||||||||||||1.971e-05|4.827e-05|0|0|0|0|0|0|1.47e-05|0|0|4.827e-05|gnomADg_AFR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA|3/3||ENST00000692266.1:n.572C>T||572|||||rs923288222||1||SNV|||||||||||||||||||||||||||||||||||1.971e-05|4.827e-05|0|0|0|0|0|0|1.47e-05|0|0|4.827e-05|gnomADg_AFR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA|3/3||ENST00000692821.2:n.545C>T||545|||||rs923288222||1||SNV|||||||||||||||||||||||||||||||||||1.971e-05|4.827e-05|0|0|0|0|0|0|1.47e-05|0|0|4.827e-05|gnomADg_AFR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA|3/3||ENST00000702922.1:n.426C>T||426|||||rs923288222||1||SNV|||||||||||||||||||||||||||||||||||1.971e-05|4.827e-05|0|0|0|0|0|0|1.47e-05|0|0|4.827e-05|gnomADg_AFR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:34,2:0.087:36:0,0:16,1:20,1:16,18,1,1 -chr1 1066230 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=16%2C20|1%2C1;DP=38;ECNT=4;GERMQ=93;MBQ=33,30;MFRL=0,0;MMQ=60,56;MPOS=62;POPAF=7.3;TLOD=4.25;SRC=custom;GRP=custom;CSQ=C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA|5/5||ENST00000394517.7:n.814T>C||814|||||||1||SNV||||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene||5/9|ENST00000412397.2:n.627-357T>C|||||||||1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA|4/4||ENST00000427998.6:n.756T>C||756|||||||1||SNV||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000433695|lncRNA|2/2||ENST00000433695.1:n.496T>C||496|||||||1||SNV||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000273443|Transcript|ENST00000442292|lncRNA|||||||||||2942|-1||SNV|||YES|||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000451054|lncRNA|2/2||ENST00000451054.1:n.354T>C||354|||||||1||SNV||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding|||||||||||4737|-1||SNV|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF||||||||||||||||||||||||||||||||||||||||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA|4/4||ENST00000456409.6:n.731T>C||731|||||||1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA|2/2||ENST00000685011.1:n.1065T>C||1065|||||||1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA|5/5||ENST00000688131.1:n.933T>C||933|||||||1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA|3/3||ENST00000692266.1:n.628T>C||628|||||||1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA|3/3||ENST00000692821.2:n.601T>C||601|||||||1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA|3/3||ENST00000702922.1:n.482T>C||482|||||||1||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:36,2:0.083:38:0,0:16,1:21,1:16,20,1,1 -chr1 1066726 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5%2C6|1%2C1;DP=13;ECNT=1;GERMQ=51;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=76;POPAF=7.3;TLOD=5.71;SRC=custom;GRP=custom;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA||||||||||rs532287544|267|1||SNV||||||5||||||||||||||0.0002|0|0|0|0|0.001||||||||||6.571e-05|2.413e-05|0|0|0|0.0001926|0|0|1.47e-05|0|0.00145|0.00145|gnomADg_SAS|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene||6/9|ENST00000412397.2:n.707+59G>A|||||||rs532287544||1||SNV|||YES|||||||||||||||||0.0002|0|0|0|0|0.001||||||||||6.571e-05|2.413e-05|0|0|0|0.0001926|0|0|1.47e-05|0|0.00145|0.00145|gnomADg_SAS|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA||||||||||rs532287544|270|1||SNV||||||1||||||||||||||0.0002|0|0|0|0|0.001||||||||||6.571e-05|2.413e-05|0|0|0|0.0001926|0|0|1.47e-05|0|0.00145|0.00145|gnomADg_SAS|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000433695|lncRNA||||||||||rs532287544|452|1||SNV||||||2||||||||||||||0.0002|0|0|0|0|0.001||||||||||6.571e-05|2.413e-05|0|0|0|0.0001926|0|0|1.47e-05|0|0.00145|0.00145|gnomADg_SAS|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000273443|Transcript|ENST00000442292|lncRNA||||||||||rs532287544|3438|-1||SNV|||YES|||1||||||||||||||0.0002|0|0|0|0|0.001||||||||||6.571e-05|2.413e-05|0|0|0|0.0001926|0|0|1.47e-05|0|0.00145|0.00145|gnomADg_SAS|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000451054|lncRNA||||||||||rs532287544|285|1||SNV||||||2||||||||||||||0.0002|0|0|0|0|0.001||||||||||6.571e-05|2.413e-05|0|0|0|0.0001926|0|0|1.47e-05|0|0.00145|0.00145|gnomADg_SAS|||||||||||||,A|downstream_gene_variant|MODIFIER|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding||||||||||rs532287544|4241|-1||SNV|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF||||||||0.0002|0|0|0|0|0.001||||||||||6.571e-05|2.413e-05|0|0|0|0.0001926|0|0|1.47e-05|0|0.00145|0.00145|gnomADg_SAS|||||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN||,A|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA||||||||||rs532287544|270|1||SNV|||YES|||2||||||||||||||0.0002|0|0|0|0|0.001||||||||||6.571e-05|2.413e-05|0|0|0|0.0001926|0|0|1.47e-05|0|0.00145|0.00145|gnomADg_SAS|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA||||||||||rs532287544|273|1||SNV||||||||||||||||||||0.0002|0|0|0|0|0.001||||||||||6.571e-05|2.413e-05|0|0|0|0.0001926|0|0|1.47e-05|0|0.00145|0.00145|gnomADg_SAS|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA||||||||||rs532287544|277|1||SNV||||||||||||||||||||0.0002|0|0|0|0|0.001||||||||||6.571e-05|2.413e-05|0|0|0|0.0001926|0|0|1.47e-05|0|0.00145|0.00145|gnomADg_SAS|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA||||||||||rs532287544|285|1||SNV||||||||||||||||||||0.0002|0|0|0|0|0.001||||||||||6.571e-05|2.413e-05|0|0|0|0.0001926|0|0|1.47e-05|0|0.00145|0.00145|gnomADg_SAS|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA||||||||||rs532287544|275|1||SNV||||||||||||||||||||0.0002|0|0|0|0|0.001||||||||||6.571e-05|2.413e-05|0|0|0|0.0001926|0|0|1.47e-05|0|0.00145|0.00145|gnomADg_SAS|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA||||||||||rs532287544|344|1||SNV||||||||||||||||||||0.0002|0|0|0|0|0.001||||||||||6.571e-05|2.413e-05|0|0|0|0.0001926|0|0|1.47e-05|0|0.00145|0.00145|gnomADg_SAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:11,2:0.222:13:1,0:5,1:6,1:5,6,1,1 -chr1 1066769 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4%2C6|1%2C1;DP=12;ECNT=1;GERMQ=48;MBQ=33,30;MFRL=0,0;MMQ=60,60;MPOS=10;POPAF=7.3;TLOD=5.15;SRC=custom;GRP=custom;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA|||||||||||310|1||SNV||||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene||6/9|ENST00000412397.2:n.707+102T>C|||||||||1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA|||||||||||313|1||SNV||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000433695|lncRNA|||||||||||495|1||SNV||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000273443|Transcript|ENST00000442292|lncRNA|||||||||||3481|-1||SNV|||YES|||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000451054|lncRNA|||||||||||328|1||SNV||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding|||||||||||4198|-1||SNV|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF||||||||||||||||||||||||||||||||||||||||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA|||||||||||313|1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA|||||||||||316|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA|||||||||||320|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA|||||||||||328|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA|||||||||||318|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA|||||||||||387|1||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:10,2:0.222:12:2,0:3,1:6,1:4,6,1,1 -chr1 1067007 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=15%2C16|2%2C2;DP=36;ECNT=3;GERMQ=85;MBQ=32,31;MFRL=0,0;MMQ=60,60;MPOS=14;POPAF=7.3;TLOD=10.87;SRC=custom;GRP=custom;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA||||||||||rs74048003|548|1||SNV||||||5||||||||||||||0.2446|0.3835|0.1686|0.1141|0.2475|0.2423||||||||||0.2559|0.3209|0.2643|0.1838|0.2666|0.1084|0.3039|0.2563|0.2368|0.2418|0.245|0.3835|AFR|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene||6/9|ENST00000412397.2:n.707+340A>G|||||||rs74048003||1||SNV|||YES|||||||||||||||||0.2446|0.3835|0.1686|0.1141|0.2475|0.2423||||||||||0.2559|0.3209|0.2643|0.1838|0.2666|0.1084|0.3039|0.2563|0.2368|0.2418|0.245|0.3835|AFR|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA||||||||||rs74048003|551|1||SNV||||||1||||||||||||||0.2446|0.3835|0.1686|0.1141|0.2475|0.2423||||||||||0.2559|0.3209|0.2643|0.1838|0.2666|0.1084|0.3039|0.2563|0.2368|0.2418|0.245|0.3835|AFR|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000433695|lncRNA||||||||||rs74048003|733|1||SNV||||||2||||||||||||||0.2446|0.3835|0.1686|0.1141|0.2475|0.2423||||||||||0.2559|0.3209|0.2643|0.1838|0.2666|0.1084|0.3039|0.2563|0.2368|0.2418|0.245|0.3835|AFR|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000273443|Transcript|ENST00000442292|lncRNA||||||||||rs74048003|3719|-1||SNV|||YES|||1||||||||||||||0.2446|0.3835|0.1686|0.1141|0.2475|0.2423||||||||||0.2559|0.3209|0.2643|0.1838|0.2666|0.1084|0.3039|0.2563|0.2368|0.2418|0.245|0.3835|AFR|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000451054|lncRNA||||||||||rs74048003|566|1||SNV||||||2||||||||||||||0.2446|0.3835|0.1686|0.1141|0.2475|0.2423||||||||||0.2559|0.3209|0.2643|0.1838|0.2666|0.1084|0.3039|0.2563|0.2368|0.2418|0.245|0.3835|AFR|||||||||||||,G|downstream_gene_variant|MODIFIER|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding||||||||||rs74048003|3960|-1||SNV|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF||||||||0.2446|0.3835|0.1686|0.1141|0.2475|0.2423||||||||||0.2559|0.3209|0.2643|0.1838|0.2666|0.1084|0.3039|0.2563|0.2368|0.2418|0.245|0.3835|AFR|||||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN||,G|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA||||||||||rs74048003|551|1||SNV|||YES|||2||||||||||||||0.2446|0.3835|0.1686|0.1141|0.2475|0.2423||||||||||0.2559|0.3209|0.2643|0.1838|0.2666|0.1084|0.3039|0.2563|0.2368|0.2418|0.245|0.3835|AFR|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA||||||||||rs74048003|554|1||SNV||||||||||||||||||||0.2446|0.3835|0.1686|0.1141|0.2475|0.2423||||||||||0.2559|0.3209|0.2643|0.1838|0.2666|0.1084|0.3039|0.2563|0.2368|0.2418|0.245|0.3835|AFR|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA||||||||||rs74048003|558|1||SNV||||||||||||||||||||0.2446|0.3835|0.1686|0.1141|0.2475|0.2423||||||||||0.2559|0.3209|0.2643|0.1838|0.2666|0.1084|0.3039|0.2563|0.2368|0.2418|0.245|0.3835|AFR|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA||||||||||rs74048003|566|1||SNV||||||||||||||||||||0.2446|0.3835|0.1686|0.1141|0.2475|0.2423||||||||||0.2559|0.3209|0.2643|0.1838|0.2666|0.1084|0.3039|0.2563|0.2368|0.2418|0.245|0.3835|AFR|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA||||||||||rs74048003|556|1||SNV||||||||||||||||||||0.2446|0.3835|0.1686|0.1141|0.2475|0.2423||||||||||0.2559|0.3209|0.2643|0.1838|0.2666|0.1084|0.3039|0.2563|0.2368|0.2418|0.245|0.3835|AFR|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA||||||||||rs74048003|625|1||SNV||||||||||||||||||||0.2446|0.3835|0.1686|0.1141|0.2475|0.2423||||||||||0.2559|0.3209|0.2643|0.1838|0.2666|0.1084|0.3039|0.2563|0.2368|0.2418|0.245|0.3835|AFR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:31,4:0.143:35:1,0:14,2:17,2:15,16,2,2 -chr1 1067007 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=13%2C15|4%2C2;DP=34;ECNT=1;GERMQ=67;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=69;POPAF=7.3;TLOD=17.95;SRC=custom;GRP=custom;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA||||||||||rs74048003|548|1||SNV||||||5||||||||||||||0.2446|0.3835|0.1686|0.1141|0.2475|0.2423||||||||||0.2559|0.3209|0.2643|0.1838|0.2666|0.1084|0.3039|0.2563|0.2368|0.2418|0.245|0.3835|AFR|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene||6/9|ENST00000412397.2:n.707+340A>G|||||||rs74048003||1||SNV|||YES|||||||||||||||||0.2446|0.3835|0.1686|0.1141|0.2475|0.2423||||||||||0.2559|0.3209|0.2643|0.1838|0.2666|0.1084|0.3039|0.2563|0.2368|0.2418|0.245|0.3835|AFR|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA||||||||||rs74048003|551|1||SNV||||||1||||||||||||||0.2446|0.3835|0.1686|0.1141|0.2475|0.2423||||||||||0.2559|0.3209|0.2643|0.1838|0.2666|0.1084|0.3039|0.2563|0.2368|0.2418|0.245|0.3835|AFR|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000433695|lncRNA||||||||||rs74048003|733|1||SNV||||||2||||||||||||||0.2446|0.3835|0.1686|0.1141|0.2475|0.2423||||||||||0.2559|0.3209|0.2643|0.1838|0.2666|0.1084|0.3039|0.2563|0.2368|0.2418|0.245|0.3835|AFR|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000273443|Transcript|ENST00000442292|lncRNA||||||||||rs74048003|3719|-1||SNV|||YES|||1||||||||||||||0.2446|0.3835|0.1686|0.1141|0.2475|0.2423||||||||||0.2559|0.3209|0.2643|0.1838|0.2666|0.1084|0.3039|0.2563|0.2368|0.2418|0.245|0.3835|AFR|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000451054|lncRNA||||||||||rs74048003|566|1||SNV||||||2||||||||||||||0.2446|0.3835|0.1686|0.1141|0.2475|0.2423||||||||||0.2559|0.3209|0.2643|0.1838|0.2666|0.1084|0.3039|0.2563|0.2368|0.2418|0.245|0.3835|AFR|||||||||||||,G|downstream_gene_variant|MODIFIER|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding||||||||||rs74048003|3960|-1||SNV|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF||||||||0.2446|0.3835|0.1686|0.1141|0.2475|0.2423||||||||||0.2559|0.3209|0.2643|0.1838|0.2666|0.1084|0.3039|0.2563|0.2368|0.2418|0.245|0.3835|AFR|||||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN||,G|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA||||||||||rs74048003|551|1||SNV|||YES|||2||||||||||||||0.2446|0.3835|0.1686|0.1141|0.2475|0.2423||||||||||0.2559|0.3209|0.2643|0.1838|0.2666|0.1084|0.3039|0.2563|0.2368|0.2418|0.245|0.3835|AFR|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA||||||||||rs74048003|554|1||SNV||||||||||||||||||||0.2446|0.3835|0.1686|0.1141|0.2475|0.2423||||||||||0.2559|0.3209|0.2643|0.1838|0.2666|0.1084|0.3039|0.2563|0.2368|0.2418|0.245|0.3835|AFR|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA||||||||||rs74048003|558|1||SNV||||||||||||||||||||0.2446|0.3835|0.1686|0.1141|0.2475|0.2423||||||||||0.2559|0.3209|0.2643|0.1838|0.2666|0.1084|0.3039|0.2563|0.2368|0.2418|0.245|0.3835|AFR|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA||||||||||rs74048003|566|1||SNV||||||||||||||||||||0.2446|0.3835|0.1686|0.1141|0.2475|0.2423||||||||||0.2559|0.3209|0.2643|0.1838|0.2666|0.1084|0.3039|0.2563|0.2368|0.2418|0.245|0.3835|AFR|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA||||||||||rs74048003|556|1||SNV||||||||||||||||||||0.2446|0.3835|0.1686|0.1141|0.2475|0.2423||||||||||0.2559|0.3209|0.2643|0.1838|0.2666|0.1084|0.3039|0.2563|0.2368|0.2418|0.245|0.3835|AFR|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA||||||||||rs74048003|625|1||SNV||||||||||||||||||||0.2446|0.3835|0.1686|0.1141|0.2475|0.2423||||||||||0.2559|0.3209|0.2643|0.1838|0.2666|0.1084|0.3039|0.2563|0.2368|0.2418|0.245|0.3835|AFR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:28,6:0.227:34:2,0:13,4:16,4:13,15,4,2 -chr1 1067159 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=11%2C9|2%2C1;DP=24;ECNT=3;GERMQ=65;MBQ=34,32;MFRL=0,0;MMQ=60,60;MPOS=79;POPAF=7.3;TLOD=7.99;SRC=custom;GRP=custom;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA||||||||||rs60442576|700|1||SNV||||||5||||||||||||||0.3431|0.7247|0.2003|0.121|0.2505|0.2526||||||||||0.3543|0.6599|0.2643|0.2197|0.2801|0.1127|0.304|0.288|0.2378|0.3252|0.2597|0.7247|AFR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene||6/9|ENST00000412397.2:n.708-407G>A|||||||rs60442576||1||SNV|||YES|||||||||||||||||0.3431|0.7247|0.2003|0.121|0.2505|0.2526||||||||||0.3543|0.6599|0.2643|0.2197|0.2801|0.1127|0.304|0.288|0.2378|0.3252|0.2597|0.7247|AFR|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA||||||||||rs60442576|703|1||SNV||||||1||||||||||||||0.3431|0.7247|0.2003|0.121|0.2505|0.2526||||||||||0.3543|0.6599|0.2643|0.2197|0.2801|0.1127|0.304|0.288|0.2378|0.3252|0.2597|0.7247|AFR|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000433695|lncRNA||||||||||rs60442576|885|1||SNV||||||2||||||||||||||0.3431|0.7247|0.2003|0.121|0.2505|0.2526||||||||||0.3543|0.6599|0.2643|0.2197|0.2801|0.1127|0.304|0.288|0.2378|0.3252|0.2597|0.7247|AFR|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000273443|Transcript|ENST00000442292|lncRNA||||||||||rs60442576|3871|-1||SNV|||YES|||1||||||||||||||0.3431|0.7247|0.2003|0.121|0.2505|0.2526||||||||||0.3543|0.6599|0.2643|0.2197|0.2801|0.1127|0.304|0.288|0.2378|0.3252|0.2597|0.7247|AFR|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000451054|lncRNA||||||||||rs60442576|718|1||SNV||||||2||||||||||||||0.3431|0.7247|0.2003|0.121|0.2505|0.2526||||||||||0.3543|0.6599|0.2643|0.2197|0.2801|0.1127|0.304|0.288|0.2378|0.3252|0.2597|0.7247|AFR|||||||||||||,A|downstream_gene_variant|MODIFIER|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding||||||||||rs60442576|3808|-1||SNV|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF||||||||0.3431|0.7247|0.2003|0.121|0.2505|0.2526||||||||||0.3543|0.6599|0.2643|0.2197|0.2801|0.1127|0.304|0.288|0.2378|0.3252|0.2597|0.7247|AFR|||||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN||,A|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA||||||||||rs60442576|703|1||SNV|||YES|||2||||||||||||||0.3431|0.7247|0.2003|0.121|0.2505|0.2526||||||||||0.3543|0.6599|0.2643|0.2197|0.2801|0.1127|0.304|0.288|0.2378|0.3252|0.2597|0.7247|AFR|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA||||||||||rs60442576|706|1||SNV||||||||||||||||||||0.3431|0.7247|0.2003|0.121|0.2505|0.2526||||||||||0.3543|0.6599|0.2643|0.2197|0.2801|0.1127|0.304|0.288|0.2378|0.3252|0.2597|0.7247|AFR|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA||||||||||rs60442576|710|1||SNV||||||||||||||||||||0.3431|0.7247|0.2003|0.121|0.2505|0.2526||||||||||0.3543|0.6599|0.2643|0.2197|0.2801|0.1127|0.304|0.288|0.2378|0.3252|0.2597|0.7247|AFR|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA||||||||||rs60442576|718|1||SNV||||||||||||||||||||0.3431|0.7247|0.2003|0.121|0.2505|0.2526||||||||||0.3543|0.6599|0.2643|0.2197|0.2801|0.1127|0.304|0.288|0.2378|0.3252|0.2597|0.7247|AFR|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA||||||||||rs60442576|708|1||SNV||||||||||||||||||||0.3431|0.7247|0.2003|0.121|0.2505|0.2526||||||||||0.3543|0.6599|0.2643|0.2197|0.2801|0.1127|0.304|0.288|0.2378|0.3252|0.2597|0.7247|AFR|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA||||||||||rs60442576|777|1||SNV||||||||||||||||||||0.3431|0.7247|0.2003|0.121|0.2505|0.2526||||||||||0.3543|0.6599|0.2643|0.2197|0.2801|0.1127|0.304|0.288|0.2378|0.3252|0.2597|0.7247|AFR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:20,3:0.2:23:0,0:11,2:11,2:11,9,2,1 -chr1 1067159 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=6%2C6|2%2C4;DP=18;ECNT=2;GERMQ=40;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=93;POPAF=7.3;TLOD=19.06;SRC=custom;GRP=custom;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA||||||||||rs60442576|700|1||SNV||||||5||||||||||||||0.3431|0.7247|0.2003|0.121|0.2505|0.2526||||||||||0.3543|0.6599|0.2643|0.2197|0.2801|0.1127|0.304|0.288|0.2378|0.3252|0.2597|0.7247|AFR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene||6/9|ENST00000412397.2:n.708-407G>A|||||||rs60442576||1||SNV|||YES|||||||||||||||||0.3431|0.7247|0.2003|0.121|0.2505|0.2526||||||||||0.3543|0.6599|0.2643|0.2197|0.2801|0.1127|0.304|0.288|0.2378|0.3252|0.2597|0.7247|AFR|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA||||||||||rs60442576|703|1||SNV||||||1||||||||||||||0.3431|0.7247|0.2003|0.121|0.2505|0.2526||||||||||0.3543|0.6599|0.2643|0.2197|0.2801|0.1127|0.304|0.288|0.2378|0.3252|0.2597|0.7247|AFR|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000433695|lncRNA||||||||||rs60442576|885|1||SNV||||||2||||||||||||||0.3431|0.7247|0.2003|0.121|0.2505|0.2526||||||||||0.3543|0.6599|0.2643|0.2197|0.2801|0.1127|0.304|0.288|0.2378|0.3252|0.2597|0.7247|AFR|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000273443|Transcript|ENST00000442292|lncRNA||||||||||rs60442576|3871|-1||SNV|||YES|||1||||||||||||||0.3431|0.7247|0.2003|0.121|0.2505|0.2526||||||||||0.3543|0.6599|0.2643|0.2197|0.2801|0.1127|0.304|0.288|0.2378|0.3252|0.2597|0.7247|AFR|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000451054|lncRNA||||||||||rs60442576|718|1||SNV||||||2||||||||||||||0.3431|0.7247|0.2003|0.121|0.2505|0.2526||||||||||0.3543|0.6599|0.2643|0.2197|0.2801|0.1127|0.304|0.288|0.2378|0.3252|0.2597|0.7247|AFR|||||||||||||,A|downstream_gene_variant|MODIFIER|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding||||||||||rs60442576|3808|-1||SNV|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF||||||||0.3431|0.7247|0.2003|0.121|0.2505|0.2526||||||||||0.3543|0.6599|0.2643|0.2197|0.2801|0.1127|0.304|0.288|0.2378|0.3252|0.2597|0.7247|AFR|||||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN||,A|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA||||||||||rs60442576|703|1||SNV|||YES|||2||||||||||||||0.3431|0.7247|0.2003|0.121|0.2505|0.2526||||||||||0.3543|0.6599|0.2643|0.2197|0.2801|0.1127|0.304|0.288|0.2378|0.3252|0.2597|0.7247|AFR|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA||||||||||rs60442576|706|1||SNV||||||||||||||||||||0.3431|0.7247|0.2003|0.121|0.2505|0.2526||||||||||0.3543|0.6599|0.2643|0.2197|0.2801|0.1127|0.304|0.288|0.2378|0.3252|0.2597|0.7247|AFR|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA||||||||||rs60442576|710|1||SNV||||||||||||||||||||0.3431|0.7247|0.2003|0.121|0.2505|0.2526||||||||||0.3543|0.6599|0.2643|0.2197|0.2801|0.1127|0.304|0.288|0.2378|0.3252|0.2597|0.7247|AFR|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA||||||||||rs60442576|718|1||SNV||||||||||||||||||||0.3431|0.7247|0.2003|0.121|0.2505|0.2526||||||||||0.3543|0.6599|0.2643|0.2197|0.2801|0.1127|0.304|0.288|0.2378|0.3252|0.2597|0.7247|AFR|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA||||||||||rs60442576|708|1||SNV||||||||||||||||||||0.3431|0.7247|0.2003|0.121|0.2505|0.2526||||||||||0.3543|0.6599|0.2643|0.2197|0.2801|0.1127|0.304|0.288|0.2378|0.3252|0.2597|0.7247|AFR|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA||||||||||rs60442576|777|1||SNV||||||||||||||||||||0.3431|0.7247|0.2003|0.121|0.2505|0.2526||||||||||0.3543|0.6599|0.2643|0.2197|0.2801|0.1127|0.304|0.288|0.2378|0.3252|0.2597|0.7247|AFR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:12,6:0.385:18:1,2:6,2:7,4:6,6,2,4 -chr1 1067173 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=10%2C10|1%2C1;DP=23;ECNT=3;GERMQ=71;MBQ=32,34;MFRL=0,0;MMQ=60,60;MPOS=37;POPAF=7.3;TLOD=5.39;SRC=custom;GRP=custom;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA|||||||||||714|1||SNV||||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene||6/9|ENST00000412397.2:n.708-393T>C|||||||||1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA|||||||||||717|1||SNV||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000433695|lncRNA|||||||||||899|1||SNV||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000273443|Transcript|ENST00000442292|lncRNA|||||||||||3885|-1||SNV|||YES|||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000451054|lncRNA|||||||||||732|1||SNV||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding|||||||||||3794|-1||SNV|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF||||||||||||||||||||||||||||||||||||||||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA|||||||||||717|1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA|||||||||||720|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA|||||||||||724|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA|||||||||||732|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA|||||||||||722|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA|||||||||||791|1||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:20,2:0.133:22:0,0:9,1:12,1:10,10,1,1 -chr1 1067193 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=8%2C9|1%2C1;DP=19;ECNT=2;GERMQ=64;MBQ=35,32;MFRL=0,0;MMQ=60,60;MPOS=14;POPAF=7.3;TLOD=5.31;SRC=custom;GRP=custom;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA|||||||||||734|1||SNV||||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene||6/9|ENST00000412397.2:n.708-373G>A|||||||||1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA|||||||||||737|1||SNV||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000433695|lncRNA|||||||||||919|1||SNV||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000273443|Transcript|ENST00000442292|lncRNA|||||||||||3905|-1||SNV|||YES|||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000451054|lncRNA|||||||||||752|1||SNV||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding|||||||||||3774|-1||SNV|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF||||||||||||||||||||||||||||||||||||||||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN||,A|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA|||||||||||737|1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA|||||||||||740|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA|||||||||||744|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA|||||||||||752|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA|||||||||||742|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA|||||||||||811|1||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:17,2:0.167:19:1,0:8,1:9,1:8,9,1,1 -chr1 1067708 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=7%2C7|3%2C2;DP=20;ECNT=1;GERMQ=45;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=129;POPAF=7.3;TLOD=15.27;SRC=custom;GRP=custom;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA|||||||||||1249|1||SNV||||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene||7/9|ENST00000412397.2:n.788+62C>T|||||||||1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA|||||||||||1252|1||SNV||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000433695|lncRNA|||||||||||1434|1||SNV||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000273443|Transcript|ENST00000442292|lncRNA|||||||||||4420|-1||SNV|||YES|||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000451054|lncRNA|||||||||||1267|1||SNV||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding|||||||||||3259|-1||SNV|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF||||||||||||||||||||||||||||||||||||||||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA|||||||||||1252|1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA|||||||||||1255|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA|||||||||||1259|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA|||||||||||1267|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA|||||||||||1257|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA|||||||||||1326|1||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:14,5:0.307:19:1,0:7,3:8,3:7,7,3,2 -chr1 1068165 . G T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=4%2C3|1%2C1;DP=9;ECNT=3;GERMQ=43;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=94;POPAF=7.3;TLOD=5.83;SRC=custom;GRP=custom;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA|||||||||||1706|1||SNV||||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene||8/9|ENST00000412397.2:n.923+162G>T|||||||||1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA|||||||||||1709|1||SNV||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000433695|lncRNA|||||||||||1891|1||SNV||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000273443|Transcript|ENST00000442292|lncRNA|||||||||||4877|-1||SNV|||YES|||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000451054|lncRNA|||||||||||1724|1||SNV||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding|||||||||||2802|-1||SNV|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF||||||||||||||||||||||||||||||||||||||||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA|||||||||||1709|1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA|||||||||||1712|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA|||||||||||1716|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA|||||||||||1724|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA|||||||||||1714|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA|||||||||||1783|1||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,2:0.25:9:1,0:4,1:5,1:4,3,1,1 -chr1 1068198 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=7%2C8|1%2C1;DP=18;ECNT=3;GERMQ=59;MBQ=33,31;MFRL=0,0;MMQ=60,60;MPOS=98;POPAF=7.3;TLOD=5.18;SRC=custom;GRP=custom;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA||||||||||rs1645604641|1739|1||SNV||||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene||8/9|ENST00000412397.2:n.923+195T>C|||||||rs1645604641||1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA||||||||||rs1645604641|1742|1||SNV||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000433695|lncRNA||||||||||rs1645604641|1924|1||SNV||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000273443|Transcript|ENST00000442292|lncRNA||||||||||rs1645604641|4910|-1||SNV|||YES|||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000451054|lncRNA||||||||||rs1645604641|1757|1||SNV||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding||||||||||rs1645604641|2769|-1||SNV|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF||||||||||||||||||||||||||||||||||||||||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA||||||||||rs1645604641|1742|1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA||||||||||rs1645604641|1745|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA||||||||||rs1645604641|1749|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA||||||||||rs1645604641|1757|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA||||||||||rs1645604641|1747|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA||||||||||rs1645604641|1816|1||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:15,2:0.179:17:1,0:7,1:8,1:7,8,1,1 -chr1 1068240 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C3|1%2C1;DP=8;ECNT=1;GERMQ=41;MBQ=34,34;MFRL=0,0;MMQ=60,60;MPOS=86;POPAF=7.3;TLOD=6.35;SRC=custom;GRP=custom;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA|||||||||||1781|1||SNV||||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene||8/9|ENST00000412397.2:n.923+237C>T|||||||||1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA|||||||||||1784|1||SNV||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000433695|lncRNA|||||||||||1966|1||SNV||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000273443|Transcript|ENST00000442292|lncRNA|||||||||||4952|-1||SNV|||YES|||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000451054|lncRNA|||||||||||1799|1||SNV||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding|||||||||||2727|-1||SNV|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF||||||||||||||||||||||||||||||||||||||||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA|||||||||||1784|1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA|||||||||||1787|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA|||||||||||1791|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA|||||||||||1799|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA|||||||||||1789|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA|||||||||||1858|1||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,2:0.333:8:0,0:3,1:3,1:3,3,1,1 -chr1 1068249 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=7%2C7|2%2C2;DP=18;ECNT=3;GERMQ=48;MBQ=34,32;MFRL=0,0;MMQ=60,60;MPOS=55;POPAF=7.3;TLOD=12.05;SRC=custom;GRP=custom;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA||||||||||rs4075116|1790|1||SNV||||||5||||||||||||||0.7206|0.4622|0.7695|0.9157|0.7425|0.8119||||||||||0.6653|0.4519|0.7473|0.7688|0.8127|0.8983|0.755|0.7342|0.7208|0.6861|0.8039|0.9157|EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene||8/9|ENST00000412397.2:n.923+246C>T|||||||rs4075116||1||SNV|||YES|||||||||||||||||0.7206|0.4622|0.7695|0.9157|0.7425|0.8119||||||||||0.6653|0.4519|0.7473|0.7688|0.8127|0.8983|0.755|0.7342|0.7208|0.6861|0.8039|0.9157|EAS|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA||||||||||rs4075116|1793|1||SNV||||||1||||||||||||||0.7206|0.4622|0.7695|0.9157|0.7425|0.8119||||||||||0.6653|0.4519|0.7473|0.7688|0.8127|0.8983|0.755|0.7342|0.7208|0.6861|0.8039|0.9157|EAS|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000433695|lncRNA||||||||||rs4075116|1975|1||SNV||||||2||||||||||||||0.7206|0.4622|0.7695|0.9157|0.7425|0.8119||||||||||0.6653|0.4519|0.7473|0.7688|0.8127|0.8983|0.755|0.7342|0.7208|0.6861|0.8039|0.9157|EAS|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000273443|Transcript|ENST00000442292|lncRNA||||||||||rs4075116|4961|-1||SNV|||YES|||1||||||||||||||0.7206|0.4622|0.7695|0.9157|0.7425|0.8119||||||||||0.6653|0.4519|0.7473|0.7688|0.8127|0.8983|0.755|0.7342|0.7208|0.6861|0.8039|0.9157|EAS|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000451054|lncRNA||||||||||rs4075116|1808|1||SNV||||||2||||||||||||||0.7206|0.4622|0.7695|0.9157|0.7425|0.8119||||||||||0.6653|0.4519|0.7473|0.7688|0.8127|0.8983|0.755|0.7342|0.7208|0.6861|0.8039|0.9157|EAS|||||||||||||,T|downstream_gene_variant|MODIFIER|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding||||||||||rs4075116|2718|-1||SNV|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF||||||||0.7206|0.4622|0.7695|0.9157|0.7425|0.8119||||||||||0.6653|0.4519|0.7473|0.7688|0.8127|0.8983|0.755|0.7342|0.7208|0.6861|0.8039|0.9157|EAS|||||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA||||||||||rs4075116|1793|1||SNV|||YES|||2||||||||||||||0.7206|0.4622|0.7695|0.9157|0.7425|0.8119||||||||||0.6653|0.4519|0.7473|0.7688|0.8127|0.8983|0.755|0.7342|0.7208|0.6861|0.8039|0.9157|EAS|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA||||||||||rs4075116|1796|1||SNV||||||||||||||||||||0.7206|0.4622|0.7695|0.9157|0.7425|0.8119||||||||||0.6653|0.4519|0.7473|0.7688|0.8127|0.8983|0.755|0.7342|0.7208|0.6861|0.8039|0.9157|EAS|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA||||||||||rs4075116|1800|1||SNV||||||||||||||||||||0.7206|0.4622|0.7695|0.9157|0.7425|0.8119||||||||||0.6653|0.4519|0.7473|0.7688|0.8127|0.8983|0.755|0.7342|0.7208|0.6861|0.8039|0.9157|EAS|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA||||||||||rs4075116|1808|1||SNV||||||||||||||||||||0.7206|0.4622|0.7695|0.9157|0.7425|0.8119||||||||||0.6653|0.4519|0.7473|0.7688|0.8127|0.8983|0.755|0.7342|0.7208|0.6861|0.8039|0.9157|EAS|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA||||||||||rs4075116|1798|1||SNV||||||||||||||||||||0.7206|0.4622|0.7695|0.9157|0.7425|0.8119||||||||||0.6653|0.4519|0.7473|0.7688|0.8127|0.8983|0.755|0.7342|0.7208|0.6861|0.8039|0.9157|EAS|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA||||||||||rs4075116|1867|1||SNV||||||||||||||||||||0.7206|0.4622|0.7695|0.9157|0.7425|0.8119||||||||||0.6653|0.4519|0.7473|0.7688|0.8127|0.8983|0.755|0.7342|0.7208|0.6861|0.8039|0.9157|EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:14,4:0.273:18:0,0:7,2:7,2:7,7,2,2 -chr1 1068581 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=20%2C28|1%2C1;DP=51;ECNT=4;GERMQ=93;MBQ=33,34;MFRL=0,0;MMQ=60,54;MPOS=106;POPAF=7.3;TLOD=4.76;SRC=custom;GRP=custom;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA|||||||||||2122|1||SNV||||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene|9/10||ENST00000412397.2:n.928A>G||928|||||||1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA|||||||||||2125|1||SNV||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000433695|lncRNA|||||||||||2307|1||SNV||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000451054|lncRNA|||||||||||2140|1||SNV||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding|||||||||||2386|-1||SNV|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF||||||||||||||||||||||||||||||||||||||||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN||,G|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA|||||||||||2125|1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA|||||||||||2128|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA|||||||||||2132|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA|||||||||||2140|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA|||||||||||2130|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA|||||||||||2199|1||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:48,2:0.061:50:10,0:19,1:30,1:20,28,1,1 -chr1 1068591 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=28%2C29|2%2C2;DP=63;ECNT=5;GERMQ=93;MBQ=32,35;MFRL=0,0;MMQ=60,60;MPOS=114;POPAF=7.3;TLOD=11.26;SRC=custom;GRP=custom;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA|||||||||||2132|1||SNV||||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene|9/10||ENST00000412397.2:n.938T>C||938|||||||1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA|||||||||||2135|1||SNV||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000433695|lncRNA|||||||||||2317|1||SNV||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000451054|lncRNA|||||||||||2150|1||SNV||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding|||||||||||2376|-1||SNV|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF||||||||||||||||||||||||||||||||||||||||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA|||||||||||2135|1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA|||||||||||2138|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA|||||||||||2142|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA|||||||||||2150|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA|||||||||||2140|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA|||||||||||2209|1||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:57,4:0.075:61:8,0:27,2:36,2:28,29,2,2 -chr1 1068604 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=30%2C33|1%2C1;DP=67;ECNT=5;GERMQ=93;MBQ=32,34;MFRL=0,0;MMQ=60,53;MPOS=86;POPAF=7.3;TLOD=4.47;SRC=custom;GRP=custom;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA|||||||||||2145|1||SNV||||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene|9/10||ENST00000412397.2:n.951T>C||951|||||||1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA|||||||||||2148|1||SNV||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000433695|lncRNA|||||||||||2330|1||SNV||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000451054|lncRNA|||||||||||2163|1||SNV||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding|||||||||||2363|-1||SNV|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF||||||||||||||||||||||||||||||||||||||||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA|||||||||||2148|1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA|||||||||||2151|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA|||||||||||2155|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA|||||||||||2163|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA|||||||||||2153|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA|||||||||||2222|1||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:63,2:0.049:65:7,0:30,1:37,1:30,33,1,1 -chr1 1068628 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=28%2C36|1%2C2;DP=69;ECNT=5;GERMQ=93;MBQ=33,32;MFRL=0,0;MMQ=60,59;MPOS=116;POPAF=7.3;TLOD=6.45;SRC=custom;GRP=custom;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA||||||||||rs1645607594|2169|1||SNV||||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene|9/10||ENST00000412397.2:n.975T>C||975|||||rs1645607594||1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA||||||||||rs1645607594|2172|1||SNV||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000433695|lncRNA||||||||||rs1645607594|2354|1||SNV||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000451054|lncRNA||||||||||rs1645607594|2187|1||SNV||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding||||||||||rs1645607594|2339|-1||SNV|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF||||||||||||||||||||||||||||||||||||||||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA||||||||||rs1645607594|2172|1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA||||||||||rs1645607594|2175|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA||||||||||rs1645607594|2179|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA||||||||||rs1645607594|2187|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA||||||||||rs1645607594|2177|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA||||||||||rs1645607594|2246|1||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:64,3:0.073:67:4,0:27,1:37,2:28,36,1,2 -chr1 1068628 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=20%2C29|1%2C2;DP=52;ECNT=4;GERMQ=93;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=80;POPAF=7.3;TLOD=8.08;SRC=custom;GRP=custom;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA||||||||||rs1645607594|2169|1||SNV||||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene|9/10||ENST00000412397.2:n.975T>C||975|||||rs1645607594||1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA||||||||||rs1645607594|2172|1||SNV||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000433695|lncRNA||||||||||rs1645607594|2354|1||SNV||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000451054|lncRNA||||||||||rs1645607594|2187|1||SNV||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding||||||||||rs1645607594|2339|-1||SNV|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF||||||||||||||||||||||||||||||||||||||||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA||||||||||rs1645607594|2172|1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA||||||||||rs1645607594|2175|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA||||||||||rs1645607594|2179|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA||||||||||rs1645607594|2187|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA||||||||||rs1645607594|2177|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA||||||||||rs1645607594|2246|1||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:49,3:0.091:52:6,1:19,1:29,2:20,29,1,2 -chr1 1068664 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=26%2C35|3%2C4;DP=68;ECNT=5;GERMQ=93;MBQ=32,33;MFRL=0,0;MMQ=60,59;MPOS=50;POPAF=7.3;TLOD=20.02;SRC=custom;GRP=custom;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA|||||||||||2205|1||SNV||||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene|9/10||ENST00000412397.2:n.1011T>C||1011|||||||1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA|||||||||||2208|1||SNV||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000433695|lncRNA|||||||||||2390|1||SNV||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000451054|lncRNA|||||||||||2223|1||SNV||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding|||||||||||2303|-1||SNV|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF||||||||||||||||||||||||||||||||||||||||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA|||||||||||2208|1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA|||||||||||2211|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA|||||||||||2215|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA|||||||||||2223|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA|||||||||||2213|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA|||||||||||2282|1||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:61,7:0.122:68:4,0:25,3:35,4:26,35,3,4 -chr1 1068664 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=22%2C27|1%2C2;DP=52;ECNT=4;GERMQ=93;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=44;POPAF=7.3;TLOD=7.5;SRC=custom;GRP=custom;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA|||||||||||2205|1||SNV||||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene|9/10||ENST00000412397.2:n.1011T>C||1011|||||||1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA|||||||||||2208|1||SNV||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000433695|lncRNA|||||||||||2390|1||SNV||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000451054|lncRNA|||||||||||2223|1||SNV||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding|||||||||||2303|-1||SNV|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF||||||||||||||||||||||||||||||||||||||||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA|||||||||||2208|1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA|||||||||||2211|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA|||||||||||2215|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA|||||||||||2223|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA|||||||||||2213|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA|||||||||||2282|1||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:49,3:0.094:52:3,1:21,1:28,2:22,27,1,2 -chr1 1068727 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=4%2C15|1%2C2;DP=25;ECNT=5;GERMQ=63;MBQ=32,34;MFRL=0,0;MMQ=60,59;MPOS=17;POPAF=7.3;TLOD=8.12;SRC=custom;GRP=custom;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA|||||||||||2268|1||SNV||||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|splice_donor_region_variant&intron_variant&non_coding_transcript_variant|LOW||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene||9/9|ENST00000412397.2:n.1071+3T>C|||||||||1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA|||||||||||2271|1||SNV||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000433695|lncRNA|||||||||||2453|1||SNV||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000451054|lncRNA|||||||||||2286|1||SNV||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding|||||||||||2240|-1||SNV|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF||||||||||||||||||||||||||||||||||||||||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA|||||||||||2271|1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA|||||||||||2274|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA|||||||||||2278|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA|||||||||||2286|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA|||||||||||2276|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA|||||||||||2345|1||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:19,3:0.156:22:0,0:4,1:15,2:4,15,1,2 -chr1 1068905 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=11%2C11|1%2C1;DP=26;ECNT=2;GERMQ=76;MBQ=35,31;MFRL=0,0;MMQ=60,60;MPOS=107;POPAF=7.3;TLOD=4.95;SRC=custom;GRP=custom;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA||||||||||rs1344983090|2446|1||SNV||||||5|||||||||||||||||||||||||||||6.59e-06|0|0|0|0|0|0|0|1.474e-05|0|0|1.474e-05|gnomADg_NFE|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene||9/9|ENST00000412397.2:n.1071+181C>T|||||||rs1344983090||1||SNV|||YES||||||||||||||||||||||||||||||||6.59e-06|0|0|0|0|0|0|0|1.474e-05|0|0|1.474e-05|gnomADg_NFE|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA||||||||||rs1344983090|2449|1||SNV||||||1|||||||||||||||||||||||||||||6.59e-06|0|0|0|0|0|0|0|1.474e-05|0|0|1.474e-05|gnomADg_NFE|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000433695|lncRNA||||||||||rs1344983090|2631|1||SNV||||||2|||||||||||||||||||||||||||||6.59e-06|0|0|0|0|0|0|0|1.474e-05|0|0|1.474e-05|gnomADg_NFE|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000451054|lncRNA||||||||||rs1344983090|2464|1||SNV||||||2|||||||||||||||||||||||||||||6.59e-06|0|0|0|0|0|0|0|1.474e-05|0|0|1.474e-05|gnomADg_NFE|||||||||||||,T|downstream_gene_variant|MODIFIER|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding||||||||||rs1344983090|2062|-1||SNV|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF|||||||||||||||||||||||6.59e-06|0|0|0|0|0|0|0|1.474e-05|0|0|1.474e-05|gnomADg_NFE|||||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA||||||||||rs1344983090|2449|1||SNV|||YES|||2|||||||||||||||||||||||||||||6.59e-06|0|0|0|0|0|0|0|1.474e-05|0|0|1.474e-05|gnomADg_NFE|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA||||||||||rs1344983090|2452|1||SNV|||||||||||||||||||||||||||||||||||6.59e-06|0|0|0|0|0|0|0|1.474e-05|0|0|1.474e-05|gnomADg_NFE|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA||||||||||rs1344983090|2456|1||SNV|||||||||||||||||||||||||||||||||||6.59e-06|0|0|0|0|0|0|0|1.474e-05|0|0|1.474e-05|gnomADg_NFE|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA||||||||||rs1344983090|2464|1||SNV|||||||||||||||||||||||||||||||||||6.59e-06|0|0|0|0|0|0|0|1.474e-05|0|0|1.474e-05|gnomADg_NFE|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA||||||||||rs1344983090|2454|1||SNV|||||||||||||||||||||||||||||||||||6.59e-06|0|0|0|0|0|0|0|1.474e-05|0|0|1.474e-05|gnomADg_NFE|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA||||||||||rs1344983090|2523|1||SNV|||||||||||||||||||||||||||||||||||6.59e-06|0|0|0|0|0|0|0|1.474e-05|0|0|1.474e-05|gnomADg_NFE||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:22,2:0.141:24:0,0:9,1:11,1:11,11,1,1 -chr1 1068951 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|5%2C7;DP=12;ECNT=2;GERMQ=75;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=61;POPAF=7.3;TLOD=41.4;SRC=custom;GRP=custom;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA||||||||||rs113592356|2492|1||SNV||||||5||||||||||||||0.0210|0.0008|0.0202|0.0119|0.0497|0.0286||||||||||0.03403|0.007754|0.07346|0.02868|0.0366|0.01024|0.0428|0.05449|0.05129|0.02826|0.03177|0.07346|gnomADg_AMI|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene||9/9|ENST00000412397.2:n.1071+227C>T|||||||rs113592356||1||SNV|||YES|||||||||||||||||0.0210|0.0008|0.0202|0.0119|0.0497|0.0286||||||||||0.03403|0.007754|0.07346|0.02868|0.0366|0.01024|0.0428|0.05449|0.05129|0.02826|0.03177|0.07346|gnomADg_AMI|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA||||||||||rs113592356|2495|1||SNV||||||1||||||||||||||0.0210|0.0008|0.0202|0.0119|0.0497|0.0286||||||||||0.03403|0.007754|0.07346|0.02868|0.0366|0.01024|0.0428|0.05449|0.05129|0.02826|0.03177|0.07346|gnomADg_AMI|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000433695|lncRNA||||||||||rs113592356|2677|1||SNV||||||2||||||||||||||0.0210|0.0008|0.0202|0.0119|0.0497|0.0286||||||||||0.03403|0.007754|0.07346|0.02868|0.0366|0.01024|0.0428|0.05449|0.05129|0.02826|0.03177|0.07346|gnomADg_AMI|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000451054|lncRNA||||||||||rs113592356|2510|1||SNV||||||2||||||||||||||0.0210|0.0008|0.0202|0.0119|0.0497|0.0286||||||||||0.03403|0.007754|0.07346|0.02868|0.0366|0.01024|0.0428|0.05449|0.05129|0.02826|0.03177|0.07346|gnomADg_AMI|||||||||||||,T|downstream_gene_variant|MODIFIER|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding||||||||||rs113592356|2016|-1||SNV|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF||||||||0.0210|0.0008|0.0202|0.0119|0.0497|0.0286||||||||||0.03403|0.007754|0.07346|0.02868|0.0366|0.01024|0.0428|0.05449|0.05129|0.02826|0.03177|0.07346|gnomADg_AMI|||||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA||||||||||rs113592356|2495|1||SNV|||YES|||2||||||||||||||0.0210|0.0008|0.0202|0.0119|0.0497|0.0286||||||||||0.03403|0.007754|0.07346|0.02868|0.0366|0.01024|0.0428|0.05449|0.05129|0.02826|0.03177|0.07346|gnomADg_AMI|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA||||||||||rs113592356|2498|1||SNV||||||||||||||||||||0.0210|0.0008|0.0202|0.0119|0.0497|0.0286||||||||||0.03403|0.007754|0.07346|0.02868|0.0366|0.01024|0.0428|0.05449|0.05129|0.02826|0.03177|0.07346|gnomADg_AMI|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA||||||||||rs113592356|2502|1||SNV||||||||||||||||||||0.0210|0.0008|0.0202|0.0119|0.0497|0.0286||||||||||0.03403|0.007754|0.07346|0.02868|0.0366|0.01024|0.0428|0.05449|0.05129|0.02826|0.03177|0.07346|gnomADg_AMI|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA||||||||||rs113592356|2510|1||SNV||||||||||||||||||||0.0210|0.0008|0.0202|0.0119|0.0497|0.0286||||||||||0.03403|0.007754|0.07346|0.02868|0.0366|0.01024|0.0428|0.05449|0.05129|0.02826|0.03177|0.07346|gnomADg_AMI|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA||||||||||rs113592356|2500|1||SNV||||||||||||||||||||0.0210|0.0008|0.0202|0.0119|0.0497|0.0286||||||||||0.03403|0.007754|0.07346|0.02868|0.0366|0.01024|0.0428|0.05449|0.05129|0.02826|0.03177|0.07346|gnomADg_AMI|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA||||||||||rs113592356|2569|1||SNV||||||||||||||||||||0.0210|0.0008|0.0202|0.0119|0.0497|0.0286||||||||||0.03403|0.007754|0.07346|0.02868|0.0366|0.01024|0.0428|0.05449|0.05129|0.02826|0.03177|0.07346|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,12:0.888:12:0,0:0,5:0,7:0,0,5,7 -chr1 1068951 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C6;DP=10;ECNT=2;GERMQ=70;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=77;POPAF=7.3;TLOD=36.3;SRC=custom;GRP=custom;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA||||||||||rs113592356|2492|1||SNV||||||5||||||||||||||0.0210|0.0008|0.0202|0.0119|0.0497|0.0286||||||||||0.03403|0.007754|0.07346|0.02868|0.0366|0.01024|0.0428|0.05449|0.05129|0.02826|0.03177|0.07346|gnomADg_AMI|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene||9/9|ENST00000412397.2:n.1071+227C>T|||||||rs113592356||1||SNV|||YES|||||||||||||||||0.0210|0.0008|0.0202|0.0119|0.0497|0.0286||||||||||0.03403|0.007754|0.07346|0.02868|0.0366|0.01024|0.0428|0.05449|0.05129|0.02826|0.03177|0.07346|gnomADg_AMI|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA||||||||||rs113592356|2495|1||SNV||||||1||||||||||||||0.0210|0.0008|0.0202|0.0119|0.0497|0.0286||||||||||0.03403|0.007754|0.07346|0.02868|0.0366|0.01024|0.0428|0.05449|0.05129|0.02826|0.03177|0.07346|gnomADg_AMI|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000433695|lncRNA||||||||||rs113592356|2677|1||SNV||||||2||||||||||||||0.0210|0.0008|0.0202|0.0119|0.0497|0.0286||||||||||0.03403|0.007754|0.07346|0.02868|0.0366|0.01024|0.0428|0.05449|0.05129|0.02826|0.03177|0.07346|gnomADg_AMI|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000451054|lncRNA||||||||||rs113592356|2510|1||SNV||||||2||||||||||||||0.0210|0.0008|0.0202|0.0119|0.0497|0.0286||||||||||0.03403|0.007754|0.07346|0.02868|0.0366|0.01024|0.0428|0.05449|0.05129|0.02826|0.03177|0.07346|gnomADg_AMI|||||||||||||,T|downstream_gene_variant|MODIFIER|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding||||||||||rs113592356|2016|-1||SNV|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF||||||||0.0210|0.0008|0.0202|0.0119|0.0497|0.0286||||||||||0.03403|0.007754|0.07346|0.02868|0.0366|0.01024|0.0428|0.05449|0.05129|0.02826|0.03177|0.07346|gnomADg_AMI|||||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA||||||||||rs113592356|2495|1||SNV|||YES|||2||||||||||||||0.0210|0.0008|0.0202|0.0119|0.0497|0.0286||||||||||0.03403|0.007754|0.07346|0.02868|0.0366|0.01024|0.0428|0.05449|0.05129|0.02826|0.03177|0.07346|gnomADg_AMI|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA||||||||||rs113592356|2498|1||SNV||||||||||||||||||||0.0210|0.0008|0.0202|0.0119|0.0497|0.0286||||||||||0.03403|0.007754|0.07346|0.02868|0.0366|0.01024|0.0428|0.05449|0.05129|0.02826|0.03177|0.07346|gnomADg_AMI|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA||||||||||rs113592356|2502|1||SNV||||||||||||||||||||0.0210|0.0008|0.0202|0.0119|0.0497|0.0286||||||||||0.03403|0.007754|0.07346|0.02868|0.0366|0.01024|0.0428|0.05449|0.05129|0.02826|0.03177|0.07346|gnomADg_AMI|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA||||||||||rs113592356|2510|1||SNV||||||||||||||||||||0.0210|0.0008|0.0202|0.0119|0.0497|0.0286||||||||||0.03403|0.007754|0.07346|0.02868|0.0366|0.01024|0.0428|0.05449|0.05129|0.02826|0.03177|0.07346|gnomADg_AMI|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA||||||||||rs113592356|2500|1||SNV||||||||||||||||||||0.0210|0.0008|0.0202|0.0119|0.0497|0.0286||||||||||0.03403|0.007754|0.07346|0.02868|0.0366|0.01024|0.0428|0.05449|0.05129|0.02826|0.03177|0.07346|gnomADg_AMI|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA||||||||||rs113592356|2569|1||SNV||||||||||||||||||||0.0210|0.0008|0.0202|0.0119|0.0497|0.0286||||||||||0.03403|0.007754|0.07346|0.02868|0.0366|0.01024|0.0428|0.05449|0.05129|0.02826|0.03177|0.07346|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,10:0.875:10:0,0:0,4:0,6:0,0,4,6 -chr1 1069274 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=95;POPAF=7.3;TLOD=7.35;SRC=custom;GRP=custom;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA|||||||||||2815|1||SNV||||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene|10/10||ENST00000412397.2:n.1138G>A||1138|||||||1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA|||||||||||2818|1||SNV||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000433695|lncRNA|||||||||||3000|1||SNV||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000451054|lncRNA|||||||||||2833|1||SNV||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding|||||||||||1693|-1||SNV|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF||||||||||||||||||||||||||||||||||||||||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN||,A|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA|||||||||||2818|1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA|||||||||||2821|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA|||||||||||2825|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA|||||||||||2833|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA|||||||||||2823|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA|||||||||||2892|1||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1069588 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=3;GERMQ=39;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=33;POPAF=7.3;TLOD=3.1;SRC=custom;GRP=custom;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA|||||||||||3129|1||SNV||||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene|||||||||||233|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA|||||||||||3132|1||SNV||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000433695|lncRNA|||||||||||3314|1||SNV||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000451054|lncRNA|||||||||||3147|1||SNV||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding|||||||||||1379|-1||SNV|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF||||||||||||||||||||||||||||||||||||||||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN||,G|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA|||||||||||3132|1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA|||||||||||3135|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA|||||||||||3139|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA|||||||||||3147|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA|||||||||||3137|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA|||||||||||3206|1||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,1:0.5:2:0,0:1,1:1,1:1,0,1,0 -chr1 1069669 . C T . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=1%2C0|1%2C1;DP=3;ECNT=3;GERMQ=38;MBQ=34,32;MFRL=0,0;MMQ=60,60;MPOS=82;POPAF=7.3;TLOD=8.22;SRC=custom;GRP=custom;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA||||||||||rs1645623099|3210|1||SNV||||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene||||||||||rs1645623099|314|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA||||||||||rs1645623099|3213|1||SNV||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000433695|lncRNA||||||||||rs1645623099|3395|1||SNV||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000451054|lncRNA||||||||||rs1645623099|3228|1||SNV||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding||||||||||rs1645623099|1298|-1||SNV|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF||||||||||||||||||||||||||||||||||||||||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA||||||||||rs1645623099|3213|1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA||||||||||rs1645623099|3216|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA||||||||||rs1645623099|3220|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA||||||||||rs1645623099|3228|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA||||||||||rs1645623099|3218|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA||||||||||rs1645623099|3287|1||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:1,2:0.5:3:0,0:1,1:1,1:0|1:1069669_C_T:1069669:1,0,1,1 -chr1 1069672 . A G . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=1%2C0|1%2C1;DP=3;ECNT=3;GERMQ=38;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=85;POPAF=7.3;TLOD=8.22;SRC=custom;GRP=custom;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA||||||||||rs2100726362|3213|1||SNV||||||5|||||||||||||||||||||||||||||6.572e-06|0|0|0|0|0|0|0|0|0|0.0002071|0.0002071|gnomADg_SAS|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene||||||||||rs2100726362|317|1||SNV|||YES||||||||||||||||||||||||||||||||6.572e-06|0|0|0|0|0|0|0|0|0|0.0002071|0.0002071|gnomADg_SAS|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA||||||||||rs2100726362|3216|1||SNV||||||1|||||||||||||||||||||||||||||6.572e-06|0|0|0|0|0|0|0|0|0|0.0002071|0.0002071|gnomADg_SAS|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000433695|lncRNA||||||||||rs2100726362|3398|1||SNV||||||2|||||||||||||||||||||||||||||6.572e-06|0|0|0|0|0|0|0|0|0|0.0002071|0.0002071|gnomADg_SAS|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000451054|lncRNA||||||||||rs2100726362|3231|1||SNV||||||2|||||||||||||||||||||||||||||6.572e-06|0|0|0|0|0|0|0|0|0|0.0002071|0.0002071|gnomADg_SAS|||||||||||||,G|downstream_gene_variant|MODIFIER|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding||||||||||rs2100726362|1295|-1||SNV|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF|||||||||||||||||||||||6.572e-06|0|0|0|0|0|0|0|0|0|0.0002071|0.0002071|gnomADg_SAS|||||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN||,G|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA||||||||||rs2100726362|3216|1||SNV|||YES|||2|||||||||||||||||||||||||||||6.572e-06|0|0|0|0|0|0|0|0|0|0.0002071|0.0002071|gnomADg_SAS|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA||||||||||rs2100726362|3219|1||SNV|||||||||||||||||||||||||||||||||||6.572e-06|0|0|0|0|0|0|0|0|0|0.0002071|0.0002071|gnomADg_SAS|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA||||||||||rs2100726362|3223|1||SNV|||||||||||||||||||||||||||||||||||6.572e-06|0|0|0|0|0|0|0|0|0|0.0002071|0.0002071|gnomADg_SAS|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA||||||||||rs2100726362|3231|1||SNV|||||||||||||||||||||||||||||||||||6.572e-06|0|0|0|0|0|0|0|0|0|0.0002071|0.0002071|gnomADg_SAS|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA||||||||||rs2100726362|3221|1||SNV|||||||||||||||||||||||||||||||||||6.572e-06|0|0|0|0|0|0|0|0|0|0.0002071|0.0002071|gnomADg_SAS|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA||||||||||rs2100726362|3290|1||SNV|||||||||||||||||||||||||||||||||||6.572e-06|0|0|0|0|0|0|0|0|0|0.0002071|0.0002071|gnomADg_SAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:1,2:0.5:3:0,0:1,1:1,1:0|1:1069669_C_T:1069669:1,0,1,1 -chr1 1069761 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C1|1%2C1;DP=5;ECNT=1;GERMQ=38;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=141;POPAF=7.3;TLOD=3.82;SRC=custom;GRP=custom;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA|||||||||||3302|1||SNV||||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene|||||||||||406|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA|||||||||||3305|1||SNV||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000433695|lncRNA|||||||||||3487|1||SNV||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000451054|lncRNA|||||||||||3320|1||SNV||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding|||||||||||1206|-1||SNV|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF||||||||||||||||||||||||||||||||||||||||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA|||||||||||3305|1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA|||||||||||3308|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA|||||||||||3312|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA|||||||||||3320|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA|||||||||||3310|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA|||||||||||3379|1||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,2:0.4:5:0,0:2,1:2,1:2,1,1,1 -chr1 1071168 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5%2C6|1%2C1;DP=13;ECNT=1;GERMQ=50;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=110;POPAF=7.3;TLOD=5.71;SRC=custom;GRP=custom;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA|||||||||||4709|1||SNV||||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene|||||||||||1813|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA|||||||||||4712|1||SNV||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000433695|lncRNA|||||||||||4894|1||SNV||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000451054|lncRNA|||||||||||4727|1||SNV||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|3_prime_UTR_variant|MODIFIER|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding|2/2||ENST00000453464.3:c.*649G>A||1699|||||||-1||SNV|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF||||||||||||||||||||||||||||||||||||||||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA|||||||||||4712|1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA|||||||||||4715|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA|||||||||||4719|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA|||||||||||4727|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA|||||||||||4717|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA|||||||||||4786|1||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:11,2:0.222:13:1,0:5,1:6,1:5,6,1,1 -chr1 1071610 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=9%2C10|10%2C9;DP=39;ECNT=1;GERMQ=33;MBQ=32,32;MFRL=0,0;MMQ=60,60;MPOS=101;POPAF=7.3;TLOD=62.27;SRC=custom;GRP=custom;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene||||||||||rs4326571|2255|1||SNV|||YES|||||||||||||||||0.8163|0.8427|0.8012|0.9196|0.7316|0.772||||||||||0.7643|0.8149|0.7484|0.8063|0.8077|0.9016|0.7468|0.7215|0.7147|0.7699|0.7616|0.9196|EAS|||||||||||||,A|3_prime_UTR_variant|MODIFIER|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding|2/2||ENST00000453464.3:c.*207C>T||1257|||||rs4326571||-1||SNV|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF||||||||0.8163|0.8427|0.8012|0.9196|0.7316|0.772||||||||||0.7643|0.8149|0.7484|0.8063|0.8077|0.9016|0.7468|0.7215|0.7147|0.7699|0.7616|0.9196|EAS|||||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:19,19:0.538:38:1,2:9,10:11,13:9,10,10,9 -chr1 1071610 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C4|3%2C3;DP=16;ECNT=2;GERMQ=36;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=93;POPAF=7.3;TLOD=18.3;SRC=custom;GRP=custom;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene||||||||||rs4326571|2255|1||SNV|||YES|||||||||||||||||0.8163|0.8427|0.8012|0.9196|0.7316|0.772||||||||||0.7643|0.8149|0.7484|0.8063|0.8077|0.9016|0.7468|0.7215|0.7147|0.7699|0.7616|0.9196|EAS|||||||||||||,A|3_prime_UTR_variant|MODIFIER|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding|2/2||ENST00000453464.3:c.*207C>T||1257|||||rs4326571||-1||SNV|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF||||||||0.8163|0.8427|0.8012|0.9196|0.7316|0.772||||||||||0.7643|0.8149|0.7484|0.8063|0.8077|0.9016|0.7468|0.7215|0.7147|0.7699|0.7616|0.9196|EAS|||||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,6:0.461:13:1,0:3,3:6,5:3,4,3,3 -chr1 1071692 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=9%2C8|1%2C1;DP=19;ECNT=2;GERMQ=64;MBQ=33,31;MFRL=0,0;MMQ=60,60;MPOS=74;POPAF=7.3;TLOD=5.03;SRC=custom;GRP=custom;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene|||||||||||2337|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|3_prime_UTR_variant|MODIFIER|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding|2/2||ENST00000453464.3:c.*125T>C||1175|||||||-1||SNV|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF||||||||||||||||||||||||||||||||||||||||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:17,2:0.154:19:0,0:9,1:10,1:9,8,1,1 -chr1 1071823 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=2%2C4|2%2C2;DP=10;ECNT=4;GERMQ=37;MBQ=31,34;MFRL=0,0;MMQ=60,60;MPOS=16;POPAF=7.3;TLOD=13.09;SRC=custom;GRP=custom;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene||||||||||rs4633229|2468|1||SNV|||YES|||||||||||||||||0.8413|0.8797|0.8112|0.9196|0.7883|0.7843|0.816|0.8594|0.8533|0.8069|0.9078|0.8538|0.7842|0.8041|0.7851|0.8132|0.8588|0.818|0.8282|0.8229|0.9025|0.8464|0.731|0.7728|0.8072|0.776|0.9196|EAS|||||||||||||,G|synonymous_variant|LOW|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding|2/2||ENST00000453464.3:c.744T>C|ENSP00000410533.1:p.Asp248%3D|1044|744|248|D|gaT/gaC|rs4633229||-1||SNV|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF||||||||0.8413|0.8797|0.8112|0.9196|0.7883|0.7843|0.816|0.8594|0.8533|0.8069|0.9078|0.8538|0.7842|0.8041|0.7851|0.8132|0.8588|0.818|0.8282|0.8229|0.9025|0.8464|0.731|0.7728|0.8072|0.776|0.9196|EAS|||||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,4:0.375:10:0,0:2,2:4,2:2,4,2,2 -chr1 1071823 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C2|4%2C1;DP=10;ECNT=2;GERMQ=36;MBQ=25,34;MFRL=0,0;MMQ=60,60;MPOS=80;POPAF=7.3;TLOD=17.04;SRC=custom;GRP=custom;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene||||||||||rs4633229|2468|1||SNV|||YES|||||||||||||||||0.8413|0.8797|0.8112|0.9196|0.7883|0.7843|0.816|0.8594|0.8533|0.8069|0.9078|0.8538|0.7842|0.8041|0.7851|0.8132|0.8588|0.818|0.8282|0.8229|0.9025|0.8464|0.731|0.7728|0.8072|0.776|0.9196|EAS|||||||||||||,G|synonymous_variant|LOW|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding|2/2||ENST00000453464.3:c.744T>C|ENSP00000410533.1:p.Asp248%3D|1044|744|248|D|gaT/gaC|rs4633229||-1||SNV|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF||||||||0.8413|0.8797|0.8112|0.9196|0.7883|0.7843|0.816|0.8594|0.8533|0.8069|0.9078|0.8538|0.7842|0.8041|0.7851|0.8132|0.8588|0.818|0.8282|0.8229|0.9025|0.8464|0.731|0.7728|0.8072|0.776|0.9196|EAS|||||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,5:0.625:8:1,0:0,4:2,4:1,2,4,1 -chr1 1071842 . G T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=2%2C2|1%2C1;DP=6;ECNT=4;GERMQ=39;MBQ=31,33;MFRL=0,0;MMQ=60,60;MPOS=21;POPAF=7.3;TLOD=6.15;SRC=custom;GRP=custom;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene||||||||||rs71628928&COSV69251322|2487|1||SNV|||YES|||||||||||||||||0.1174|0.0257|0.0951|0.1091|0.163|0.2188|0.1412|0.02294|0.07825|0.1934|0.07649|0.2412|0.148|0.1606|0.2119|0.1192|0.03126|0.1429|0.101|0.1983|0.08671|0.2329|0.1741|0.1507|0.1318|0.2039|0.2412|gnomADe_FIN||0&1|0&1||||||||||,T|missense_variant|MODERATE|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding|2/2||ENST00000453464.3:c.725C>A|ENSP00000410533.1:p.Pro242His|1025|725|242|P/H|cCc/cAc|rs71628928&COSV69251322||-1||SNV|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF|||deleterious(0.01)|possibly_damaging(0.897)||||0.1174|0.0257|0.0951|0.1091|0.163|0.2188|0.1412|0.02294|0.07825|0.1934|0.07649|0.2412|0.148|0.1606|0.2119|0.1192|0.03126|0.1429|0.101|0.1983|0.08671|0.2329|0.1741|0.1507|0.1318|0.2039|0.2412|gnomADe_FIN||0&1|0&1||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,2:0.333:6:0,0:2,1:3,1:2,2,1,1 -chr1 1071842 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C2|5%2C3;DP=11;ECNT=2;GERMQ=41;MBQ=34,27;MFRL=0,0;MMQ=60,60;MPOS=88;POPAF=7.3;TLOD=19.94;SRC=custom;GRP=custom;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene||||||||||rs71628928&COSV69251322|2487|1||SNV|||YES|||||||||||||||||0.1174|0.0257|0.0951|0.1091|0.163|0.2188|0.1412|0.02294|0.07825|0.1934|0.07649|0.2412|0.148|0.1606|0.2119|0.1192|0.03126|0.1429|0.101|0.1983|0.08671|0.2329|0.1741|0.1507|0.1318|0.2039|0.2412|gnomADe_FIN||0&1|0&1||||||||||,T|missense_variant|MODERATE|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding|2/2||ENST00000453464.3:c.725C>A|ENSP00000410533.1:p.Pro242His|1025|725|242|P/H|cCc/cAc|rs71628928&COSV69251322||-1||SNV|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF|||deleterious(0.01)|possibly_damaging(0.897)||||0.1174|0.0257|0.0951|0.1091|0.163|0.2188|0.1412|0.02294|0.07825|0.1934|0.07649|0.2412|0.148|0.1606|0.2119|0.1192|0.03126|0.1429|0.101|0.1983|0.08671|0.2329|0.1741|0.1507|0.1318|0.2039|0.2412|gnomADe_FIN||0&1|0&1||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,8:0.667:10:1,0:0,4:2,5:0,2,5,3 -chr1 1072067 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=6%2C7|1%2C1;DP=16;ECNT=1;GERMQ=55;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=15;POPAF=7.3;TLOD=5.5;SRC=custom;GRP=custom;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene|||||||||||2712|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|missense_variant|MODERATE|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding|2/2||ENST00000453464.3:c.500C>A|ENSP00000410533.1:p.Pro167His|800|500|167|P/H|cCt/cAt|||-1||SNV|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF|||deleterious(0)|possibly_damaging(0.745)||||||||||||||||||||||||||||||||||||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:13,2:0.182:15:1,0:6,1:8,1:6,7,1,1 -chr1 1072692 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C1;DP=4;ECNT=1;GERMQ=37;MBQ=35,31;MFRL=0,0;MMQ=60,60;MPOS=135;POPAF=7.3;TLOD=6.35;SRC=custom;GRP=custom;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene|||||||||||3337|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding||1/1|ENST00000453464.3:c.-9-117G>A|||||||||-1||SNV|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF||||||||||||||||||||||||||||||||||||||||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.5:4:0,0:1,1:1,1:1,1,1,1 -chr1 1073473 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=95;POPAF=7.3;TLOD=7.25;SRC=custom;GRP=custom;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene|||||||||||4118|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant|MODIFIER|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding||1/1|ENST00000453464.3:c.-10+543A>G|||||||||-1||SNV|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF||||||||||||||||||||||||||||||||||||||||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344484|promoter||||||||||||||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00524050956|||||||||||||-1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||ENSPFM0086|12|N|-0.021|EGR1&EGR2&EGR4&EGR3|||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1073949 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=97;POPAF=7.3;TLOD=3.48;SRC=custom;GRP=custom;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene|||||||||||4594|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant|MODIFIER|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding||1/1|ENST00000453464.3:c.-10+67G>T|||||||||-1||SNV|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF||||||||||||||||||||||||||||||||||||||||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344484|promoter||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 1074098 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C1|2%2C3;DP=11;ECNT=1;GERMQ=36;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=74;POPAF=7.3;TLOD=17.05;SRC=custom;GRP=custom;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene||||||||||rs9442367|4743|1||SNV|||YES|||||||||||||||||0.8133|0.8313|0.8012|0.9177|0.7336|0.772||||||||||0.7652|0.8078|0.7879|0.8053|0.8069|0.8964|0.7518|0.7247|0.7202|0.7682|0.7622|0.9177|EAS|||||||||||||,C|5_prime_UTR_variant|MODIFIER|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding|1/2||ENST00000453464.3:c.-92C>G||209|||||rs9442367||-1||SNV|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF||||||||0.8133|0.8313|0.8012|0.9177|0.7336|0.772||||||||||0.7652|0.8078|0.7879|0.8053|0.8069|0.8964|0.7518|0.7247|0.7202|0.7682|0.7622|0.9177|EAS|||||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344484|promoter||||||||||rs9442367||||SNV||||||||||||||||||||0.8133|0.8313|0.8012|0.9177|0.7336|0.772||||||||||0.7652|0.8078|0.7879|0.8053|0.8069|0.8964|0.7518|0.7247|0.7202|0.7682|0.7622|0.9177|EAS|||||||||||||,C|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00521838332|||||||||||rs9442367||-1||SNV||||||||||||||||||||0.8133|0.8313|0.8012|0.9177|0.7336|0.772||||||||||0.7652|0.8078|0.7879|0.8053|0.8069|0.8964|0.7518|0.7247|0.7202|0.7682|0.7622|0.9177|EAS|||||ENSPFM0307|10|N|-0.040|HOXB2::ELF1|||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,5:0.574:8:0,1:2,2:2,3:2,1,2,3 -chr1 1074098 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|3%2C5;DP=10;ECNT=2;GERMQ=41;MBQ=32,34;MFRL=0,0;MMQ=60,60;MPOS=79;POPAF=7.3;TLOD=29.84;SRC=custom;GRP=custom;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene||||||||||rs9442367|4743|1||SNV|||YES|||||||||||||||||0.8133|0.8313|0.8012|0.9177|0.7336|0.772||||||||||0.7652|0.8078|0.7879|0.8053|0.8069|0.8964|0.7518|0.7247|0.7202|0.7682|0.7622|0.9177|EAS|||||||||||||,C|5_prime_UTR_variant|MODIFIER|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding|1/2||ENST00000453464.3:c.-92C>G||209|||||rs9442367||-1||SNV|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF||||||||0.8133|0.8313|0.8012|0.9177|0.7336|0.772||||||||||0.7652|0.8078|0.7879|0.8053|0.8069|0.8964|0.7518|0.7247|0.7202|0.7682|0.7622|0.9177|EAS|||||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344484|promoter||||||||||rs9442367||||SNV||||||||||||||||||||0.8133|0.8313|0.8012|0.9177|0.7336|0.772||||||||||0.7652|0.8078|0.7879|0.8053|0.8069|0.8964|0.7518|0.7247|0.7202|0.7682|0.7622|0.9177|EAS|||||||||||||,C|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00521838332|||||||||||rs9442367||-1||SNV||||||||||||||||||||0.8133|0.8313|0.8012|0.9177|0.7336|0.772||||||||||0.7652|0.8078|0.7879|0.8053|0.8069|0.8964|0.7518|0.7247|0.7202|0.7682|0.7622|0.9177|EAS|||||ENSPFM0307|10|N|-0.040|HOXB2::ELF1|||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,8:0.75:10:0,2:1,3:1,5:1,1,3,5 -chr1 1074109 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4%2C5|1%2C1;DP=11;ECNT=2;GERMQ=47;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=79;POPAF=7.3;TLOD=5.82;SRC=custom;GRP=custom;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene||||||||||rs1645664500|4754|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|5_prime_UTR_variant|MODIFIER|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding|1/2||ENST00000453464.3:c.-103A>G||198|||||rs1645664500||-1||SNV|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF||||||||||||||||||||||||||||||||||||||||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344484|promoter||||||||||rs1645664500||||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00522431940|||||||||||rs1645664500||-1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||ENSPFM0087|12|N|-0.013|ELF1&EHF&ELF4&ELF5&ELF3&ELF2||||,C|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00522003296|||||||||||rs1645664500||-1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||ENSPFM0219|15|N|0.010|GCM1::ELF1&GCM1::ELK1&GCM2::ELK1&GCM1::ETV1&GCM1::ETV4||||,C|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00050932391|||||||||||rs1645664500||-1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||ENSPFM0150|10|N|-0.020|ETV2::HOXA2&FLI1::DLX2&HOXB2::ELF1&HOXB2::ELK3&ETV2::DRGX&ELK1::HOXA1&FLI1::DRGX&ETV5::DRGX&ETV5::HOXA2&HOXB2::ELK1||||,C|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00523315657|||||||||||rs1645664500||-1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||ENSPFM0088|12|N|0.000|ELF1&ELF4&ELF5&ELF3&ELF2&ETV7||||,C|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00522188819|||||||||||rs1645664500||-1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||ENSPFM0191|10|Y|0.003|FOXO1::ELF1&FOXJ2::ELF1&FOXJ3::ELF1||||,C|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00525457273|||||||||||rs1645664500||-1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||ENSPFM0139|18|N|0.003|ETV2::DLX3&HOXB2::ELF1&HOXB2::ELK3||||,C|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00521893278|||||||||||rs1645664500||-1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||ENSPFM0306|22|N|0.003|HOXB2::ELF1||||,C|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00521948184|||||||||||rs1645664500||-1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||ENSPFM0506|14|N|-0.003|TEAD4::SPIB&TEAD4::ELF1&TEAD4::ELK1||||,C|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00521788886|||||||||||rs1645664500||-1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||ENSPFM0089|10|N|-0.003|ELF1&ELF2&ELK1&FLI1&ERG&ETS1&ETV6&FOXO1::ELK3&FOXO1::ETV1&ETV1&ETV2&ERF&ELK3&ETV3&GABPA&ETS2&ELK4&FEV&ETV5&ETV4|||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:9,2:0.225:11:2,0:3,1:6,1:4,5,1,1 -chr1 1074738 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=21;POPAF=7.3;TLOD=3.38;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding||||||||||rs80254000|432|-1||SNV|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF||||||||0.0214|0.0008|0.0202|0.0119|0.0517|0.0286||||||||||0.03449|0.007769|0.07346|0.02891|0.03658|0.01058|0.0439|0.05696|0.05206|0.02775|0.03166|0.07346|gnomADg_AMI|||||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN||,A|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00202261078|||||||||||rs80254000||1||SNV||||||||||||||||||||0.0214|0.0008|0.0202|0.0119|0.0517|0.0286||||||||||0.03449|0.007769|0.07346|0.02891|0.03658|0.01058|0.0439|0.05696|0.05206|0.02775|0.03166|0.07346|gnomADg_AMI|||||ENSPFM0401|12|N|0.041|MYBL1::MAX||||,A|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00203276162|||||||||||rs80254000||-1||SNV||||||||||||||||||||0.0214|0.0008|0.0202|0.0119|0.0517|0.0286||||||||||0.03449|0.007769|0.07346|0.02891|0.03658|0.01058|0.0439|0.05696|0.05206|0.02775|0.03166|0.07346|gnomADg_AMI|||||ENSPFM0240|10|N|-0.011|GCM1::MAX||||,A|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00387797770|||||||||||rs80254000||-1||SNV||||||||||||||||||||0.0214|0.0008|0.0202|0.0119|0.0517|0.0286||||||||||0.03449|0.007769|0.07346|0.02891|0.03658|0.01058|0.0439|0.05696|0.05206|0.02775|0.03166|0.07346|gnomADg_AMI|||||ENSPFM0374|8|N|-0.015|MEIS1::MAX|||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 1074879 . G A . haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=2;GERMQ=44;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=34;POPAF=7.3;TLOD=4.2;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding||||||||||rs75511034|573|-1||SNV|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF||||||||0.0214|0.0008|0.0202|0.0119|0.0517|0.0286||||||||||0.03474|0.007937|0.07395|0.02917|0.03662|0.01044|0.04472|0.05696|0.05225|0.02756|0.03204|0.07395|gnomADg_AMI|||||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN|| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,1:0,0:0,1:0|1:1074879_G_A:1074879:0,0,0,1 -chr1 1074893 . A C . base_qual;haplotype AS_FilterStatus=base_qual;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=2;GERMQ=44;MBQ=0,13;MFRL=0,0;MMQ=60,60;MPOS=48;POPAF=7.3;TLOD=4.2;SRC=custom;GRP=custom;CSQ=C|upstream_gene_variant|MODIFIER|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding|||||||||||587|-1||SNV|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF||||||||||||||||||||||||||||||||||||||||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN|| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,0:0,0:0,1:0|1:1074879_G_A:1074879:0,0,0,1 -chr1 1080336 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=122;POPAF=7.3;TLOD=3.48;SRC=custom;GRP=custom;CSQ=A|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379319|protein_coding||||||||||rs61290587|2364|-1||SNV|HGNC|HGNC:26062||||5|P1|CCDS7.2|ENSP00000368623|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||0.2508|0.4637|0.1369|0.1091|0.1819|0.2607||||||||||0.2375|0.415|0.1678|0.1433|0.2125|0.0931|0.2651|0.2057|0.1585|0.2218|0.2618|0.4637|AFR|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,A|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379320|protein_coding||||||||||rs61290587|1899|-1||SNV|HGNC|HGNC:26062||||2||CCDS85917.1|ENSP00000368624||Q5T2W9.107|UPI0000205ACE||||||||0.2508|0.4637|0.1369|0.1091|0.1819|0.2607||||||||||0.2375|0.415|0.1678|0.1433|0.2125|0.0931|0.2651|0.2057|0.1585|0.2218|0.2618|0.4637|AFR|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,A|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay||||||||||rs61290587|1487|-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||0.2508|0.4637|0.1369|0.1091|0.1819|0.2607||||||||||0.2375|0.415|0.1678|0.1433|0.2125|0.0931|0.2651|0.2057|0.1585|0.2218|0.2618|0.4637|AFR|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,A|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding||||||||||rs61290587|1482|-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||0.2508|0.4637|0.1369|0.1091|0.1819|0.2607||||||||||0.2375|0.415|0.1678|0.1433|0.2125|0.0931|0.2651|0.2057|0.1585|0.2218|0.2618|0.4637|AFR|||||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,A|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding||||||||||rs61290587|1487|-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||0.2508|0.4637|0.1369|0.1091|0.1819|0.2607||||||||||0.2375|0.415|0.1678|0.1433|0.2125|0.0931|0.2651|0.2057|0.1585|0.2218|0.2618|0.4637|AFR|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,A|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||||||||||rs61290587|2580|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||0.2508|0.4637|0.1369|0.1091|0.1819|0.2607||||||||||0.2375|0.415|0.1678|0.1433|0.2125|0.0931|0.2651|0.2057|0.1585|0.2218|0.2618|0.4637|AFR|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,A|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000464905|protein_coding_CDS_not_defined||||||||||rs61290587|1810|-1||SNV|HGNC|HGNC:26062||||3||||||||||||||0.2508|0.4637|0.1369|0.1091|0.1819|0.2607||||||||||0.2375|0.415|0.1678|0.1433|0.2125|0.0931|0.2651|0.2057|0.1585|0.2218|0.2618|0.4637|AFR|||||||||||||,A|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000465822|retained_intron||||||||||rs61290587|1487|-1||SNV|HGNC|HGNC:26062||||2||||||||||||||0.2508|0.4637|0.1369|0.1091|0.1819|0.2607||||||||||0.2375|0.415|0.1678|0.1433|0.2125|0.0931|0.2651|0.2057|0.1585|0.2218|0.2618|0.4637|AFR|||||||||||||,A|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay||||||||||rs61290587|1489|-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||0.2508|0.4637|0.1369|0.1091|0.1819|0.2607||||||||||0.2375|0.415|0.1678|0.1433|0.2125|0.0931|0.2651|0.2057|0.1585|0.2218|0.2618|0.4637|AFR|||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,A|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay||||||||||rs61290587|1489|-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||0.2508|0.4637|0.1369|0.1091|0.1819|0.2607||||||||||0.2375|0.415|0.1678|0.1433|0.2125|0.0931|0.2651|0.2057|0.1585|0.2218|0.2618|0.4637|AFR|||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,A|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||||||||||rs61290587|3590|-1||SNV|HGNC|HGNC:26062||||5||||||||||||||0.2508|0.4637|0.1369|0.1091|0.1819|0.2607||||||||||0.2375|0.415|0.1678|0.1433|0.2125|0.0931|0.2651|0.2057|0.1585|0.2218|0.2618|0.4637|AFR|||||||||||||,A|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000487177|retained_intron||||||||||rs61290587|1489|-1||SNV|HGNC|HGNC:26062||||2||||||||||||||0.2508|0.4637|0.1369|0.1091|0.1819|0.2607||||||||||0.2375|0.415|0.1678|0.1433|0.2125|0.0931|0.2651|0.2057|0.1585|0.2218|0.2618|0.4637|AFR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 1080437 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=3;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=35;POPAF=7.3;TLOD=7.08;SRC=custom;GRP=custom;CSQ=A|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379319|protein_coding||||||||||rs12746483|2263|-1||SNV|HGNC|HGNC:26062||||5|P1|CCDS7.2|ENSP00000368623|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||0.7616|0.6543|0.781|0.9167|0.7247|0.771||||||||||0.7105|0.6425|0.7445|0.7816|0.804|0.8964|0.7452|0.712|0.7074|0.7232|0.7581|0.9167|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,A|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379320|protein_coding||||||||||rs12746483|1798|-1||SNV|HGNC|HGNC:26062||||2||CCDS85917.1|ENSP00000368624||Q5T2W9.107|UPI0000205ACE||||||||0.7616|0.6543|0.781|0.9167|0.7247|0.771||||||||||0.7105|0.6425|0.7445|0.7816|0.804|0.8964|0.7452|0.712|0.7074|0.7232|0.7581|0.9167|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,A|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay||||||||||rs12746483|1386|-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||0.7616|0.6543|0.781|0.9167|0.7247|0.771||||||||||0.7105|0.6425|0.7445|0.7816|0.804|0.8964|0.7452|0.712|0.7074|0.7232|0.7581|0.9167|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,A|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding||||||||||rs12746483|1381|-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||0.7616|0.6543|0.781|0.9167|0.7247|0.771||||||||||0.7105|0.6425|0.7445|0.7816|0.804|0.8964|0.7452|0.712|0.7074|0.7232|0.7581|0.9167|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,A|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding||||||||||rs12746483|1386|-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||0.7616|0.6543|0.781|0.9167|0.7247|0.771||||||||||0.7105|0.6425|0.7445|0.7816|0.804|0.8964|0.7452|0.712|0.7074|0.7232|0.7581|0.9167|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,A|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||||||||||rs12746483|2479|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||0.7616|0.6543|0.781|0.9167|0.7247|0.771||||||||||0.7105|0.6425|0.7445|0.7816|0.804|0.8964|0.7452|0.712|0.7074|0.7232|0.7581|0.9167|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,A|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000464905|protein_coding_CDS_not_defined||||||||||rs12746483|1709|-1||SNV|HGNC|HGNC:26062||||3||||||||||||||0.7616|0.6543|0.781|0.9167|0.7247|0.771||||||||||0.7105|0.6425|0.7445|0.7816|0.804|0.8964|0.7452|0.712|0.7074|0.7232|0.7581|0.9167|EAS|||||||||||||,A|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000465822|retained_intron||||||||||rs12746483|1386|-1||SNV|HGNC|HGNC:26062||||2||||||||||||||0.7616|0.6543|0.781|0.9167|0.7247|0.771||||||||||0.7105|0.6425|0.7445|0.7816|0.804|0.8964|0.7452|0.712|0.7074|0.7232|0.7581|0.9167|EAS|||||||||||||,A|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay||||||||||rs12746483|1388|-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||0.7616|0.6543|0.781|0.9167|0.7247|0.771||||||||||0.7105|0.6425|0.7445|0.7816|0.804|0.8964|0.7452|0.712|0.7074|0.7232|0.7581|0.9167|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,A|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay||||||||||rs12746483|1388|-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||0.7616|0.6543|0.781|0.9167|0.7247|0.771||||||||||0.7105|0.6425|0.7445|0.7816|0.804|0.8964|0.7452|0.712|0.7074|0.7232|0.7581|0.9167|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,A|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||||||||||rs12746483|3489|-1||SNV|HGNC|HGNC:26062||||5||||||||||||||0.7616|0.6543|0.781|0.9167|0.7247|0.771||||||||||0.7105|0.6425|0.7445|0.7816|0.804|0.8964|0.7452|0.712|0.7074|0.7232|0.7581|0.9167|EAS|||||||||||||,A|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000487177|retained_intron||||||||||rs12746483|1388|-1||SNV|HGNC|HGNC:26062||||2||||||||||||||0.7616|0.6543|0.781|0.9167|0.7247|0.771||||||||||0.7105|0.6425|0.7445|0.7816|0.804|0.8964|0.7452|0.712|0.7074|0.7232|0.7581|0.9167|EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.684:2:0,0:0,1:0,1:0,0,1,1 -chr1 1081649 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=108;POPAF=7.3;TLOD=7.02;SRC=custom;GRP=custom;CSQ=G|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379319|protein_coding||||||||||rs4970352|1051|-1||SNV|HGNC|HGNC:26062||||5|P1|CCDS7.2|ENSP00000368623|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||0.9962|0.9939|0.9957|1|0.992|1||||||||||0.976|0.9911|0.9879|0.9867|0.9939|0.9886|0.9369|0.9935|0.9681|0.9763|0.9767|1|EAS&SAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,G|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379320|protein_coding||||||||||rs4970352|586|-1||SNV|HGNC|HGNC:26062||||2||CCDS85917.1|ENSP00000368624||Q5T2W9.107|UPI0000205ACE||||||||0.9962|0.9939|0.9957|1|0.992|1||||||||||0.976|0.9911|0.9879|0.9867|0.9939|0.9886|0.9369|0.9935|0.9681|0.9763|0.9767|1|EAS&SAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,G|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay||||||||||rs4970352|174|-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||0.9962|0.9939|0.9957|1|0.992|1||||||||||0.976|0.9911|0.9879|0.9867|0.9939|0.9886|0.9369|0.9935|0.9681|0.9763|0.9767|1|EAS&SAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,G|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding||||||||||rs4970352|169|-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||0.9962|0.9939|0.9957|1|0.992|1||||||||||0.976|0.9911|0.9879|0.9867|0.9939|0.9886|0.9369|0.9935|0.9681|0.9763|0.9767|1|EAS&SAS|||||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,G|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding||||||||||rs4970352|174|-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||0.9962|0.9939|0.9957|1|0.992|1||||||||||0.976|0.9911|0.9879|0.9867|0.9939|0.9886|0.9369|0.9935|0.9681|0.9763|0.9767|1|EAS&SAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,G|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||||||||||rs4970352|1267|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||0.9962|0.9939|0.9957|1|0.992|1||||||||||0.976|0.9911|0.9879|0.9867|0.9939|0.9886|0.9369|0.9935|0.9681|0.9763|0.9767|1|EAS&SAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,G|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000464905|protein_coding_CDS_not_defined||||||||||rs4970352|497|-1||SNV|HGNC|HGNC:26062||||3||||||||||||||0.9962|0.9939|0.9957|1|0.992|1||||||||||0.976|0.9911|0.9879|0.9867|0.9939|0.9886|0.9369|0.9935|0.9681|0.9763|0.9767|1|EAS&SAS|||||||||||||,G|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000465822|retained_intron||||||||||rs4970352|174|-1||SNV|HGNC|HGNC:26062||||2||||||||||||||0.9962|0.9939|0.9957|1|0.992|1||||||||||0.976|0.9911|0.9879|0.9867|0.9939|0.9886|0.9369|0.9935|0.9681|0.9763|0.9767|1|EAS&SAS|||||||||||||,G|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay||||||||||rs4970352|176|-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||0.9962|0.9939|0.9957|1|0.992|1||||||||||0.976|0.9911|0.9879|0.9867|0.9939|0.9886|0.9369|0.9935|0.9681|0.9763|0.9767|1|EAS&SAS|||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,G|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay||||||||||rs4970352|176|-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||0.9962|0.9939|0.9957|1|0.992|1||||||||||0.976|0.9911|0.9879|0.9867|0.9939|0.9886|0.9369|0.9935|0.9681|0.9763|0.9767|1|EAS&SAS|||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,G|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||||||||||rs4970352|2277|-1||SNV|HGNC|HGNC:26062||||5||||||||||||||0.9962|0.9939|0.9957|1|0.992|1||||||||||0.976|0.9911|0.9879|0.9867|0.9939|0.9886|0.9369|0.9935|0.9681|0.9763|0.9767|1|EAS&SAS|||||||||||||,G|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000487177|retained_intron||||||||||rs4970352|176|-1||SNV|HGNC|HGNC:26062||||2||||||||||||||0.9962|0.9939|0.9957|1|0.992|1||||||||||0.976|0.9911|0.9879|0.9867|0.9939|0.9886|0.9369|0.9935|0.9681|0.9763|0.9767|1|EAS&SAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1081961 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=6%2C6|7%2C3;DP=22;ECNT=1;GERMQ=35;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=86;POPAF=7.3;TLOD=28.93;SRC=custom;GRP=custom;CSQ=T|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379319|protein_coding||||||||||rs1133647&COSV53882530|739|-1||SNV|HGNC|HGNC:26062||||5|P1|CCDS7.2|ENSP00000368623|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||0.8091|0.8245|0.7997|0.9177|0.7256|0.7689||||||||||0.7556|0.7991|0.7467|0.7999|0.803|0.8959|0.7451|0.7166|0.7075|0.765|0.7581|0.9177|EAS||0&1|0&1||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379320|protein_coding||||||||||rs1133647&COSV53882530|274|-1||SNV|HGNC|HGNC:26062||||2||CCDS85917.1|ENSP00000368624||Q5T2W9.107|UPI0000205ACE||||||||0.8091|0.8245|0.7997|0.9177|0.7256|0.7689||||||||||0.7556|0.7991|0.7467|0.7999|0.803|0.8959|0.7451|0.7166|0.7075|0.765|0.7581|0.9177|EAS||0&1|0&1||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay|11/11||ENST00000379325.7:c.*1131C>A||1872|||||rs1133647&COSV53882530||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||0.8091|0.8245|0.7997|0.9177|0.7256|0.7689||||||||||0.7556|0.7991|0.7467|0.7999|0.803|0.8959|0.7451|0.7166|0.7075|0.765|0.7581|0.9177|EAS||0&1|0&1||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,T|3_prime_UTR_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding|12/12||ENST00000379339.5:c.*932C>A||2286|||||rs1133647&COSV53882530||-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||0.8091|0.8245|0.7997|0.9177|0.7256|0.7689||||||||||0.7556|0.7991|0.7467|0.7999|0.803|0.8959|0.7451|0.7166|0.7075|0.765|0.7581|0.9177|EAS||0&1|0&1||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|3_prime_UTR_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding|10/10||ENST00000421241.7:c.*932C>A||1694|||||rs1133647&COSV53882530||-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||0.8091|0.8245|0.7997|0.9177|0.7256|0.7689||||||||||0.7556|0.7991|0.7467|0.7999|0.803|0.8959|0.7451|0.7166|0.7075|0.765|0.7581|0.9177|EAS||0&1|0&1||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||||||||||rs1133647&COSV53882530|955|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||0.8091|0.8245|0.7997|0.9177|0.7256|0.7689||||||||||0.7556|0.7991|0.7467|0.7999|0.803|0.8959|0.7451|0.7166|0.7075|0.765|0.7581|0.9177|EAS||0&1|0&1||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,T|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000464905|protein_coding_CDS_not_defined||||||||||rs1133647&COSV53882530|185|-1||SNV|HGNC|HGNC:26062||||3||||||||||||||0.8091|0.8245|0.7997|0.9177|0.7256|0.7689||||||||||0.7556|0.7991|0.7467|0.7999|0.803|0.8959|0.7451|0.7166|0.7075|0.765|0.7581|0.9177|EAS||0&1|0&1||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000465822|retained_intron|9/9||ENST00000465822.5:n.1795C>A||1795|||||rs1133647&COSV53882530||-1||SNV|HGNC|HGNC:26062||||2||||||||||||||0.8091|0.8245|0.7997|0.9177|0.7256|0.7689||||||||||0.7556|0.7991|0.7467|0.7999|0.803|0.8959|0.7451|0.7166|0.7075|0.765|0.7581|0.9177|EAS||0&1|0&1||||||||||,T|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay|12/12||ENST00000467751.5:c.*1462C>A||1963|||||rs1133647&COSV53882530||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||0.8091|0.8245|0.7997|0.9177|0.7256|0.7689||||||||||0.7556|0.7991|0.7467|0.7999|0.803|0.8959|0.7451|0.7166|0.7075|0.765|0.7581|0.9177|EAS||0&1|0&1||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,T|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay|10/10||ENST00000477196.5:c.*2616C>A||3078|||||rs1133647&COSV53882530||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||0.8091|0.8245|0.7997|0.9177|0.7256|0.7689||||||||||0.7556|0.7991|0.7467|0.7999|0.803|0.8959|0.7451|0.7166|0.7075|0.765|0.7581|0.9177|EAS||0&1|0&1||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,T|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||||||||||rs1133647&COSV53882530|1965|-1||SNV|HGNC|HGNC:26062||||5||||||||||||||0.8091|0.8245|0.7997|0.9177|0.7256|0.7689||||||||||0.7556|0.7991|0.7467|0.7999|0.803|0.8959|0.7451|0.7166|0.7075|0.765|0.7581|0.9177|EAS||0&1|0&1||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000487177|retained_intron|3/3||ENST00000487177.5:n.3179C>A||3179|||||rs1133647&COSV53882530||-1||SNV|HGNC|HGNC:26062||||2||||||||||||||0.8091|0.8245|0.7997|0.9177|0.7256|0.7689||||||||||0.7556|0.7991|0.7467|0.7999|0.803|0.8959|0.7451|0.7166|0.7075|0.765|0.7581|0.9177|EAS||0&1|0&1|||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:12,10:0.5:22:1,0:6,7:7,7:6,6,7,3 -chr1 1081961 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=6%2C5|3%2C2;DP=17;ECNT=1;GERMQ=41;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=47;POPAF=7.3;TLOD=16.66;SRC=custom;GRP=custom;CSQ=T|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379319|protein_coding||||||||||rs1133647&COSV53882530|739|-1||SNV|HGNC|HGNC:26062||||5|P1|CCDS7.2|ENSP00000368623|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||0.8091|0.8245|0.7997|0.9177|0.7256|0.7689||||||||||0.7556|0.7991|0.7467|0.7999|0.803|0.8959|0.7451|0.7166|0.7075|0.765|0.7581|0.9177|EAS||0&1|0&1||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379320|protein_coding||||||||||rs1133647&COSV53882530|274|-1||SNV|HGNC|HGNC:26062||||2||CCDS85917.1|ENSP00000368624||Q5T2W9.107|UPI0000205ACE||||||||0.8091|0.8245|0.7997|0.9177|0.7256|0.7689||||||||||0.7556|0.7991|0.7467|0.7999|0.803|0.8959|0.7451|0.7166|0.7075|0.765|0.7581|0.9177|EAS||0&1|0&1||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay|11/11||ENST00000379325.7:c.*1131C>A||1872|||||rs1133647&COSV53882530||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||0.8091|0.8245|0.7997|0.9177|0.7256|0.7689||||||||||0.7556|0.7991|0.7467|0.7999|0.803|0.8959|0.7451|0.7166|0.7075|0.765|0.7581|0.9177|EAS||0&1|0&1||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,T|3_prime_UTR_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding|12/12||ENST00000379339.5:c.*932C>A||2286|||||rs1133647&COSV53882530||-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||0.8091|0.8245|0.7997|0.9177|0.7256|0.7689||||||||||0.7556|0.7991|0.7467|0.7999|0.803|0.8959|0.7451|0.7166|0.7075|0.765|0.7581|0.9177|EAS||0&1|0&1||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|3_prime_UTR_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding|10/10||ENST00000421241.7:c.*932C>A||1694|||||rs1133647&COSV53882530||-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||0.8091|0.8245|0.7997|0.9177|0.7256|0.7689||||||||||0.7556|0.7991|0.7467|0.7999|0.803|0.8959|0.7451|0.7166|0.7075|0.765|0.7581|0.9177|EAS||0&1|0&1||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||||||||||rs1133647&COSV53882530|955|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||0.8091|0.8245|0.7997|0.9177|0.7256|0.7689||||||||||0.7556|0.7991|0.7467|0.7999|0.803|0.8959|0.7451|0.7166|0.7075|0.765|0.7581|0.9177|EAS||0&1|0&1||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,T|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000464905|protein_coding_CDS_not_defined||||||||||rs1133647&COSV53882530|185|-1||SNV|HGNC|HGNC:26062||||3||||||||||||||0.8091|0.8245|0.7997|0.9177|0.7256|0.7689||||||||||0.7556|0.7991|0.7467|0.7999|0.803|0.8959|0.7451|0.7166|0.7075|0.765|0.7581|0.9177|EAS||0&1|0&1||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000465822|retained_intron|9/9||ENST00000465822.5:n.1795C>A||1795|||||rs1133647&COSV53882530||-1||SNV|HGNC|HGNC:26062||||2||||||||||||||0.8091|0.8245|0.7997|0.9177|0.7256|0.7689||||||||||0.7556|0.7991|0.7467|0.7999|0.803|0.8959|0.7451|0.7166|0.7075|0.765|0.7581|0.9177|EAS||0&1|0&1||||||||||,T|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay|12/12||ENST00000467751.5:c.*1462C>A||1963|||||rs1133647&COSV53882530||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||0.8091|0.8245|0.7997|0.9177|0.7256|0.7689||||||||||0.7556|0.7991|0.7467|0.7999|0.803|0.8959|0.7451|0.7166|0.7075|0.765|0.7581|0.9177|EAS||0&1|0&1||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,T|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay|10/10||ENST00000477196.5:c.*2616C>A||3078|||||rs1133647&COSV53882530||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||0.8091|0.8245|0.7997|0.9177|0.7256|0.7689||||||||||0.7556|0.7991|0.7467|0.7999|0.803|0.8959|0.7451|0.7166|0.7075|0.765|0.7581|0.9177|EAS||0&1|0&1||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,T|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||||||||||rs1133647&COSV53882530|1965|-1||SNV|HGNC|HGNC:26062||||5||||||||||||||0.8091|0.8245|0.7997|0.9177|0.7256|0.7689||||||||||0.7556|0.7991|0.7467|0.7999|0.803|0.8959|0.7451|0.7166|0.7075|0.765|0.7581|0.9177|EAS||0&1|0&1||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000487177|retained_intron|3/3||ENST00000487177.5:n.3179C>A||3179|||||rs1133647&COSV53882530||-1||SNV|HGNC|HGNC:26062||||2||||||||||||||0.8091|0.8245|0.7997|0.9177|0.7256|0.7689||||||||||0.7556|0.7991|0.7467|0.7999|0.803|0.8959|0.7451|0.7166|0.7075|0.765|0.7581|0.9177|EAS||0&1|0&1|||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:11,5:0.363:16:0,0:6,3:6,3:6,5,3,2 -chr1 1082207 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=6%2C10|4%2C4;DP=26;ECNT=1;GERMQ=41;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=32;POPAF=7.3;TLOD=25.52;SRC=custom;GRP=custom;CSQ=T|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379319|protein_coding||||||||||rs3766191|493|-1||SNV|HGNC|HGNC:26062||||5|P1|CCDS7.2|ENSP00000368623|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||0.1711|0.2035|0.1124|0.125|0.165|0.2229||||||||||0.1571|0.1605|0.1414|0.1145|0.2061|0.1129|0.2343|0.1962|0.1498|0.1552|0.2091|0.2343|gnomADg_FIN|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379320|protein_coding||||||||||rs3766191|28|-1||SNV|HGNC|HGNC:26062||||2||CCDS85917.1|ENSP00000368624||Q5T2W9.107|UPI0000205ACE||||||||0.1711|0.2035|0.1124|0.125|0.165|0.2229||||||||||0.1571|0.1605|0.1414|0.1145|0.2061|0.1129|0.2343|0.1962|0.1498|0.1552|0.2091|0.2343|gnomADg_FIN|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay|11/11||ENST00000379325.7:c.*885G>A||1626|||||rs3766191||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||0.1711|0.2035|0.1124|0.125|0.165|0.2229||||||||||0.1571|0.1605|0.1414|0.1145|0.2061|0.1129|0.2343|0.1962|0.1498|0.1552|0.2091|0.2343|gnomADg_FIN|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,T|3_prime_UTR_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding|12/12||ENST00000379339.5:c.*686G>A||2040|||||rs3766191||-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||0.1711|0.2035|0.1124|0.125|0.165|0.2229||||||||||0.1571|0.1605|0.1414|0.1145|0.2061|0.1129|0.2343|0.1962|0.1498|0.1552|0.2091|0.2343|gnomADg_FIN|||||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|3_prime_UTR_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding|10/10||ENST00000421241.7:c.*686G>A||1448|||||rs3766191||-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||0.1711|0.2035|0.1124|0.125|0.165|0.2229||||||||||0.1571|0.1605|0.1414|0.1145|0.2061|0.1129|0.2343|0.1962|0.1498|0.1552|0.2091|0.2343|gnomADg_FIN|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||||||||||rs3766191|709|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||0.1711|0.2035|0.1124|0.125|0.165|0.2229||||||||||0.1571|0.1605|0.1414|0.1145|0.2061|0.1129|0.2343|0.1962|0.1498|0.1552|0.2091|0.2343|gnomADg_FIN|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,T|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding||||||||||rs3766191|4932|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20||||||||0.1711|0.2035|0.1124|0.125|0.165|0.2229||||||||||0.1571|0.1605|0.1414|0.1145|0.2061|0.1129|0.2343|0.1962|0.1498|0.1552|0.2091|0.2343|gnomADg_FIN|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,T|non_coding_transcript_exon_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000464905|protein_coding_CDS_not_defined|3/3||ENST00000464905.1:n.589G>A||589|||||rs3766191||-1||SNV|HGNC|HGNC:26062||||3||||||||||||||0.1711|0.2035|0.1124|0.125|0.165|0.2229||||||||||0.1571|0.1605|0.1414|0.1145|0.2061|0.1129|0.2343|0.1962|0.1498|0.1552|0.2091|0.2343|gnomADg_FIN|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000465822|retained_intron|9/9||ENST00000465822.5:n.1549G>A||1549|||||rs3766191||-1||SNV|HGNC|HGNC:26062||||2||||||||||||||0.1711|0.2035|0.1124|0.125|0.165|0.2229||||||||||0.1571|0.1605|0.1414|0.1145|0.2061|0.1129|0.2343|0.1962|0.1498|0.1552|0.2091|0.2343|gnomADg_FIN|||||||||||||,T|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay|12/12||ENST00000467751.5:c.*1216G>A||1717|||||rs3766191||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||0.1711|0.2035|0.1124|0.125|0.165|0.2229||||||||||0.1571|0.1605|0.1414|0.1145|0.2061|0.1129|0.2343|0.1962|0.1498|0.1552|0.2091|0.2343|gnomADg_FIN|||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,T|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000473600|retained_intron||||||||||rs3766191|4934|-1||SNV|HGNC|HGNC:26062||||3||||||||||||||0.1711|0.2035|0.1124|0.125|0.165|0.2229||||||||||0.1571|0.1605|0.1414|0.1145|0.2061|0.1129|0.2343|0.1962|0.1498|0.1552|0.2091|0.2343|gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding||||||||||rs3766191|4983|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21||||||||0.1711|0.2035|0.1124|0.125|0.165|0.2229||||||||||0.1571|0.1605|0.1414|0.1145|0.2061|0.1129|0.2343|0.1962|0.1498|0.1552|0.2091|0.2343|gnomADg_FIN|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,T|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay|10/10||ENST00000477196.5:c.*2370G>A||2832|||||rs3766191||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||0.1711|0.2035|0.1124|0.125|0.165|0.2229||||||||||0.1571|0.1605|0.1414|0.1145|0.2061|0.1129|0.2343|0.1962|0.1498|0.1552|0.2091|0.2343|gnomADg_FIN|||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,T|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||||||||||rs3766191|1719|-1||SNV|HGNC|HGNC:26062||||5||||||||||||||0.1711|0.2035|0.1124|0.125|0.165|0.2229||||||||||0.1571|0.1605|0.1414|0.1145|0.2061|0.1129|0.2343|0.1962|0.1498|0.1552|0.2091|0.2343|gnomADg_FIN|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000487177|retained_intron|3/3||ENST00000487177.5:n.2933G>A||2933|||||rs3766191||-1||SNV|HGNC|HGNC:26062||||2||||||||||||||0.1711|0.2035|0.1124|0.125|0.165|0.2229||||||||||0.1571|0.1605|0.1414|0.1145|0.2061|0.1129|0.2343|0.1962|0.1498|0.1552|0.2091|0.2343|gnomADg_FIN||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:16,8:0.352:24:4,1:6,4:10,5:6,10,4,4 -chr1 1082207 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C2|6%2C6;DP=16;ECNT=1;GERMQ=41;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=55;POPAF=7.3;TLOD=40.26;SRC=custom;GRP=custom;CSQ=T|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379319|protein_coding||||||||||rs3766191|493|-1||SNV|HGNC|HGNC:26062||||5|P1|CCDS7.2|ENSP00000368623|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||0.1711|0.2035|0.1124|0.125|0.165|0.2229||||||||||0.1571|0.1605|0.1414|0.1145|0.2061|0.1129|0.2343|0.1962|0.1498|0.1552|0.2091|0.2343|gnomADg_FIN|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379320|protein_coding||||||||||rs3766191|28|-1||SNV|HGNC|HGNC:26062||||2||CCDS85917.1|ENSP00000368624||Q5T2W9.107|UPI0000205ACE||||||||0.1711|0.2035|0.1124|0.125|0.165|0.2229||||||||||0.1571|0.1605|0.1414|0.1145|0.2061|0.1129|0.2343|0.1962|0.1498|0.1552|0.2091|0.2343|gnomADg_FIN|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay|11/11||ENST00000379325.7:c.*885G>A||1626|||||rs3766191||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||0.1711|0.2035|0.1124|0.125|0.165|0.2229||||||||||0.1571|0.1605|0.1414|0.1145|0.2061|0.1129|0.2343|0.1962|0.1498|0.1552|0.2091|0.2343|gnomADg_FIN|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,T|3_prime_UTR_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding|12/12||ENST00000379339.5:c.*686G>A||2040|||||rs3766191||-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||0.1711|0.2035|0.1124|0.125|0.165|0.2229||||||||||0.1571|0.1605|0.1414|0.1145|0.2061|0.1129|0.2343|0.1962|0.1498|0.1552|0.2091|0.2343|gnomADg_FIN|||||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|3_prime_UTR_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding|10/10||ENST00000421241.7:c.*686G>A||1448|||||rs3766191||-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||0.1711|0.2035|0.1124|0.125|0.165|0.2229||||||||||0.1571|0.1605|0.1414|0.1145|0.2061|0.1129|0.2343|0.1962|0.1498|0.1552|0.2091|0.2343|gnomADg_FIN|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||||||||||rs3766191|709|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||0.1711|0.2035|0.1124|0.125|0.165|0.2229||||||||||0.1571|0.1605|0.1414|0.1145|0.2061|0.1129|0.2343|0.1962|0.1498|0.1552|0.2091|0.2343|gnomADg_FIN|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,T|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding||||||||||rs3766191|4932|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20||||||||0.1711|0.2035|0.1124|0.125|0.165|0.2229||||||||||0.1571|0.1605|0.1414|0.1145|0.2061|0.1129|0.2343|0.1962|0.1498|0.1552|0.2091|0.2343|gnomADg_FIN|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,T|non_coding_transcript_exon_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000464905|protein_coding_CDS_not_defined|3/3||ENST00000464905.1:n.589G>A||589|||||rs3766191||-1||SNV|HGNC|HGNC:26062||||3||||||||||||||0.1711|0.2035|0.1124|0.125|0.165|0.2229||||||||||0.1571|0.1605|0.1414|0.1145|0.2061|0.1129|0.2343|0.1962|0.1498|0.1552|0.2091|0.2343|gnomADg_FIN|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000465822|retained_intron|9/9||ENST00000465822.5:n.1549G>A||1549|||||rs3766191||-1||SNV|HGNC|HGNC:26062||||2||||||||||||||0.1711|0.2035|0.1124|0.125|0.165|0.2229||||||||||0.1571|0.1605|0.1414|0.1145|0.2061|0.1129|0.2343|0.1962|0.1498|0.1552|0.2091|0.2343|gnomADg_FIN|||||||||||||,T|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay|12/12||ENST00000467751.5:c.*1216G>A||1717|||||rs3766191||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||0.1711|0.2035|0.1124|0.125|0.165|0.2229||||||||||0.1571|0.1605|0.1414|0.1145|0.2061|0.1129|0.2343|0.1962|0.1498|0.1552|0.2091|0.2343|gnomADg_FIN|||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,T|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000473600|retained_intron||||||||||rs3766191|4934|-1||SNV|HGNC|HGNC:26062||||3||||||||||||||0.1711|0.2035|0.1124|0.125|0.165|0.2229||||||||||0.1571|0.1605|0.1414|0.1145|0.2061|0.1129|0.2343|0.1962|0.1498|0.1552|0.2091|0.2343|gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding||||||||||rs3766191|4983|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21||||||||0.1711|0.2035|0.1124|0.125|0.165|0.2229||||||||||0.1571|0.1605|0.1414|0.1145|0.2061|0.1129|0.2343|0.1962|0.1498|0.1552|0.2091|0.2343|gnomADg_FIN|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,T|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay|10/10||ENST00000477196.5:c.*2370G>A||2832|||||rs3766191||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||0.1711|0.2035|0.1124|0.125|0.165|0.2229||||||||||0.1571|0.1605|0.1414|0.1145|0.2061|0.1129|0.2343|0.1962|0.1498|0.1552|0.2091|0.2343|gnomADg_FIN|||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,T|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||||||||||rs3766191|1719|-1||SNV|HGNC|HGNC:26062||||5||||||||||||||0.1711|0.2035|0.1124|0.125|0.165|0.2229||||||||||0.1571|0.1605|0.1414|0.1145|0.2061|0.1129|0.2343|0.1962|0.1498|0.1552|0.2091|0.2343|gnomADg_FIN|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000487177|retained_intron|3/3||ENST00000487177.5:n.2933G>A||2933|||||rs3766191||-1||SNV|HGNC|HGNC:26062||||2||||||||||||||0.1711|0.2035|0.1124|0.125|0.165|0.2229||||||||||0.1571|0.1605|0.1414|0.1145|0.2061|0.1129|0.2343|0.1962|0.1498|0.1552|0.2091|0.2343|gnomADg_FIN||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,12:0.583:16:2,0:2,6:4,6:2,2,6,6 -chr1 1082587 . A C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=16%2C13|1%2C1;DP=31;ECNT=2;GERMQ=93;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=51;POPAF=7.3;TLOD=4.97;SRC=custom;GRP=custom;CSQ=C|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379319|protein_coding|||||||||||113|-1||SNV|HGNC|HGNC:26062||||5|P1|CCDS7.2|ENSP00000368623|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|3_prime_UTR_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379320|protein_coding|8/8||ENST00000379320.5:c.*306T>G||1972|||||||-1||SNV|HGNC|HGNC:26062||||2||CCDS85917.1|ENSP00000368624||Q5T2W9.107|UPI0000205ACE||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay|11/11||ENST00000379325.7:c.*505T>G||1246|||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,C|3_prime_UTR_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding|12/12||ENST00000379339.5:c.*306T>G||1660|||||||-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|3_prime_UTR_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding|10/10||ENST00000421241.7:c.*306T>G||1068|||||||-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding|||||||||||329|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,C|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000442117|protein_coding|||||||||||4988|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000416740||B2REC4.74|UPI000173DCFD||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNA||,C|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding|||||||||||4552|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,C|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000464905|protein_coding_CDS_not_defined||2/2|ENST00000464905.1:n.542+17T>G|||||||||-1||SNV|HGNC|HGNC:26062||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000465822|retained_intron|9/9||ENST00000465822.5:n.1169T>G||1169|||||||-1||SNV|HGNC|HGNC:26062||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay|12/12||ENST00000467751.5:c.*836T>G||1337|||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,C|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000473600|retained_intron|||||||||||4554|-1||SNV|HGNC|HGNC:26062||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding|||||||||||4603|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,C|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay|10/10||ENST00000477196.5:c.*1990T>G||2452|||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,C|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined|||||||||||1339|-1||SNV|HGNC|HGNC:26062||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000487177|retained_intron|3/3||ENST00000487177.5:n.2553T>G||2553|||||||-1||SNV|HGNC|HGNC:26062||||2|||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:29,2:0.095:31:2,0:15,1:18,1:16,13,1,1 -chr1 1082609 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=17%2C16|1%2C1;DP=35;ECNT=1;GERMQ=93;MBQ=32,34;MFRL=0,0;MMQ=60,60;MPOS=68;POPAF=7.3;TLOD=4.99;SRC=custom;GRP=custom;CSQ=C|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379319|protein_coding|||||||||||91|-1||SNV|HGNC|HGNC:26062||||5|P1|CCDS7.2|ENSP00000368623|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|3_prime_UTR_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379320|protein_coding|8/8||ENST00000379320.5:c.*284A>G||1950|||||||-1||SNV|HGNC|HGNC:26062||||2||CCDS85917.1|ENSP00000368624||Q5T2W9.107|UPI0000205ACE||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay|11/11||ENST00000379325.7:c.*483A>G||1224|||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,C|3_prime_UTR_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding|12/12||ENST00000379339.5:c.*284A>G||1638|||||||-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|3_prime_UTR_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding|10/10||ENST00000421241.7:c.*284A>G||1046|||||||-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding|||||||||||307|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,C|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000442117|protein_coding|||||||||||4966|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000416740||B2REC4.74|UPI000173DCFD||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNA||,C|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding|||||||||||4530|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,C|non_coding_transcript_exon_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000464905|protein_coding_CDS_not_defined|2/3||ENST00000464905.1:n.537A>G||537|||||||-1||SNV|HGNC|HGNC:26062||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000465822|retained_intron|9/9||ENST00000465822.5:n.1147A>G||1147|||||||-1||SNV|HGNC|HGNC:26062||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay|12/12||ENST00000467751.5:c.*814A>G||1315|||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,C|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000473600|retained_intron|||||||||||4532|-1||SNV|HGNC|HGNC:26062||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding|||||||||||4581|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,C|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay|10/10||ENST00000477196.5:c.*1968A>G||2430|||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,C|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined|||||||||||1317|-1||SNV|HGNC|HGNC:26062||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000487177|retained_intron|3/3||ENST00000487177.5:n.2531A>G||2531|||||||-1||SNV|HGNC|HGNC:26062||||2|||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:33,2:0.087:35:3,0:17,1:20,1:17,16,1,1 -chr1 1083362 . T G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,29;MFRL=0,0;MMQ=60,60;MPOS=140;POPAF=7.3;TLOD=3.08;SRC=custom;GRP=custom;CSQ=G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379319|protein_coding||9/9|ENST00000379319.5:c.503-375A>C|||||||||-1||SNV|HGNC|HGNC:26062||||5|P1|CCDS7.2|ENSP00000368623|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379320|protein_coding||7/7|ENST00000379320.5:c.941-375A>C|||||||||-1||SNV|HGNC|HGNC:26062||||2||CCDS85917.1|ENSP00000368624||Q5T2W9.107|UPI0000205ACE||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,G|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay||10/10|ENST00000379325.7:c.*105-375A>C|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding||11/11|ENST00000379339.5:c.1049-375A>C|||||||||-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding||9/9|ENST00000421241.7:c.503-375A>C|||||||||-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||10/10|ENST00000434641.5:c.600-375A>C|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,G|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000442117|protein_coding|||||||||||4213|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000416740||B2REC4.74|UPI000173DCFD||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNA||,G|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding|||||||||||3777|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,G|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000464905|protein_coding_CDS_not_defined||1/2|ENST00000464905.1:n.159-375A>C|||||||||-1||SNV|HGNC|HGNC:26062||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000465822|retained_intron||8/8|ENST00000465822.5:n.769-375A>C|||||||||-1||SNV|HGNC|HGNC:26062||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay||11/11|ENST00000467751.5:c.*436-375A>C|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,G|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000473600|retained_intron|||||||||||3779|-1||SNV|HGNC|HGNC:26062||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding|||||||||||3828|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,G|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay||9/9|ENST00000477196.5:c.*1590-375A>C|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,G|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined|||||||||||564|-1||SNV|HGNC|HGNC:26062||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000487177|retained_intron|3/3||ENST00000487177.5:n.1778A>C||1778|||||||-1||SNV|HGNC|HGNC:26062||||2|||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 1085966 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C2|2%2C2;DP=8;ECNT=1;GERMQ=36;MBQ=34,34;MFRL=0,0;MMQ=60,60;MPOS=46;POPAF=7.3;TLOD=13.83;SRC=custom;GRP=custom;CSQ=G|synonymous_variant|LOW|C1orf159|ENSG00000131591|Transcript|ENST00000379319|protein_coding|7/10||ENST00000379319.5:c.357T>C|ENSP00000368623.1:p.Ile119%3D|664|357|119|I|atT/atC|rs10907177&COSV53881062||-1||SNV|HGNC|HGNC:26062||||5|P1|CCDS7.2|ENSP00000368623|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||0.1789|0.239|0.1311|0.122|0.1809|0.1881|0.1657|0.2517|0.0973|0.2162|0.09526|0.2382|0.1639|0.1843|0.175|0.1886|0.2537|0.2314|0.129|0.2153|0.1005|0.2365|0.2025|0.1609|0.1876|0.1691|0.2537|gnomADg_AFR||0&1|0&1|22864933|||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,G|synonymous_variant|LOW|C1orf159|ENSG00000131591|Transcript|ENST00000379320|protein_coding|5/8||ENST00000379320.5:c.357T>C|ENSP00000368624.1:p.Ile119%3D|988|357|119|I|atT/atC|rs10907177&COSV53881062||-1||SNV|HGNC|HGNC:26062||||2||CCDS85917.1|ENSP00000368624||Q5T2W9.107|UPI0000205ACE||||||||0.1789|0.239|0.1311|0.122|0.1809|0.1881|0.1657|0.2517|0.0973|0.2162|0.09526|0.2382|0.1639|0.1843|0.175|0.1886|0.2537|0.2314|0.129|0.2153|0.1005|0.2365|0.2025|0.1609|0.1876|0.1691|0.2537|gnomADg_AFR||0&1|0&1|22864933|||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,G|synonymous_variant&NMD_transcript_variant|LOW|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay|7/11||ENST00000379325.7:c.357T>C|ENSP00000368629.3:p.Ile119%3D|528|357|119|I|atT/atC|rs10907177&COSV53881062||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||0.1789|0.239|0.1311|0.122|0.1809|0.1881|0.1657|0.2517|0.0973|0.2162|0.09526|0.2382|0.1639|0.1843|0.175|0.1886|0.2537|0.2314|0.129|0.2153|0.1005|0.2365|0.2025|0.1609|0.1876|0.1691|0.2537|gnomADg_AFR||0&1|0&1|22864933|||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,G|synonymous_variant|LOW|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding|9/12||ENST00000379339.5:c.465T>C|ENSP00000368644.1:p.Ile155%3D|676|465|155|I|atT/atC|rs10907177&COSV53881062||-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||0.1789|0.239|0.1311|0.122|0.1809|0.1881|0.1657|0.2517|0.0973|0.2162|0.09526|0.2382|0.1639|0.1843|0.175|0.1886|0.2537|0.2314|0.129|0.2153|0.1005|0.2365|0.2025|0.1609|0.1876|0.1691|0.2537|gnomADg_AFR||0&1|0&1|22864933|||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,G|synonymous_variant|LOW|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding|7/10||ENST00000421241.7:c.357T>C|ENSP00000400736.2:p.Ile119%3D|522|357|119|I|atT/atC|rs10907177&COSV53881062||-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||0.1789|0.239|0.1311|0.122|0.1809|0.1881|0.1657|0.2517|0.0973|0.2162|0.09526|0.2382|0.1639|0.1843|0.175|0.1886|0.2537|0.2314|0.129|0.2153|0.1005|0.2365|0.2025|0.1609|0.1876|0.1691|0.2537|gnomADg_AFR||0&1|0&1|22864933|||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,G|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000427787|protein_coding||||||||||rs10907177&COSV53881062|4440|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000395935||B2REC5.64|UPI000173DCFE||||||||0.1789|0.239|0.1311|0.122|0.1809|0.1881|0.1657|0.2517|0.0973|0.2162|0.09526|0.2382|0.1639|0.1843|0.175|0.1886|0.2537|0.2314|0.129|0.2153|0.1005|0.2365|0.2025|0.1609|0.1876|0.1691|0.2537|gnomADg_AFR||0&1|0&1|22864933|||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLC||,G|synonymous_variant|LOW|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding|7/11||ENST00000434641.5:c.357T>C|ENSP00000390635.1:p.Ile119%3D|528|357|119|I|atT/atC|rs10907177&COSV53881062||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||0.1789|0.239|0.1311|0.122|0.1809|0.1881|0.1657|0.2517|0.0973|0.2162|0.09526|0.2382|0.1639|0.1843|0.175|0.1886|0.2537|0.2314|0.129|0.2153|0.1005|0.2365|0.2025|0.1609|0.1876|0.1691|0.2537|gnomADg_AFR||0&1|0&1|22864933|||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,G|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000442117|protein_coding||||||||||rs10907177&COSV53881062|1609|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000416740||B2REC4.74|UPI000173DCFD||||||||0.1789|0.239|0.1311|0.122|0.1809|0.1881|0.1657|0.2517|0.0973|0.2162|0.09526|0.2382|0.1639|0.1843|0.175|0.1886|0.2537|0.2314|0.129|0.2153|0.1005|0.2365|0.2025|0.1609|0.1876|0.1691|0.2537|gnomADg_AFR||0&1|0&1|22864933|||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNA||,G|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding||||||||||rs10907177&COSV53881062|1173|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20||||||||0.1789|0.239|0.1311|0.122|0.1809|0.1881|0.1657|0.2517|0.0973|0.2162|0.09526|0.2382|0.1639|0.1843|0.175|0.1886|0.2537|0.2314|0.129|0.2153|0.1005|0.2365|0.2025|0.1609|0.1876|0.1691|0.2537|gnomADg_AFR||0&1|0&1|22864933|||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,G|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000464905|protein_coding_CDS_not_defined||||||||||rs10907177&COSV53881062|1894|-1||SNV|HGNC|HGNC:26062||||3||||||||||||||0.1789|0.239|0.1311|0.122|0.1809|0.1881|0.1657|0.2517|0.0973|0.2162|0.09526|0.2382|0.1639|0.1843|0.175|0.1886|0.2537|0.2314|0.129|0.2153|0.1005|0.2365|0.2025|0.1609|0.1876|0.1691|0.2537|gnomADg_AFR||0&1|0&1|22864933|||||||||,G|non_coding_transcript_exon_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000465822|retained_intron|6/9||ENST00000465822.5:n.466T>C||466|||||rs10907177&COSV53881062||-1||SNV|HGNC|HGNC:26062||||2||||||||||||||0.1789|0.239|0.1311|0.122|0.1809|0.1881|0.1657|0.2517|0.0973|0.2162|0.09526|0.2382|0.1639|0.1843|0.175|0.1886|0.2537|0.2314|0.129|0.2153|0.1005|0.2365|0.2025|0.1609|0.1876|0.1691|0.2537|gnomADg_AFR||0&1|0&1|22864933|||||||||,G|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay|8/12||ENST00000467751.5:c.*118T>C||619|||||rs10907177&COSV53881062||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||0.1789|0.239|0.1311|0.122|0.1809|0.1881|0.1657|0.2517|0.0973|0.2162|0.09526|0.2382|0.1639|0.1843|0.175|0.1886|0.2537|0.2314|0.129|0.2153|0.1005|0.2365|0.2025|0.1609|0.1876|0.1691|0.2537|gnomADg_AFR||0&1|0&1|22864933|||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,G|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000473600|retained_intron||||||||||rs10907177&COSV53881062|1175|-1||SNV|HGNC|HGNC:26062||||3||||||||||||||0.1789|0.239|0.1311|0.122|0.1809|0.1881|0.1657|0.2517|0.0973|0.2162|0.09526|0.2382|0.1639|0.1843|0.175|0.1886|0.2537|0.2314|0.129|0.2153|0.1005|0.2365|0.2025|0.1609|0.1876|0.1691|0.2537|gnomADg_AFR||0&1|0&1|22864933|||||||||,G|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding||||||||||rs10907177&COSV53881062|1224|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21||||||||0.1789|0.239|0.1311|0.122|0.1809|0.1881|0.1657|0.2517|0.0973|0.2162|0.09526|0.2382|0.1639|0.1843|0.175|0.1886|0.2537|0.2314|0.129|0.2153|0.1005|0.2365|0.2025|0.1609|0.1876|0.1691|0.2537|gnomADg_AFR||0&1|0&1|22864933|||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,G|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay|7/10||ENST00000477196.5:c.*1006T>C||1468|||||rs10907177&COSV53881062||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||0.1789|0.239|0.1311|0.122|0.1809|0.1881|0.1657|0.2517|0.0973|0.2162|0.09526|0.2382|0.1639|0.1843|0.175|0.1886|0.2537|0.2314|0.129|0.2153|0.1005|0.2365|0.2025|0.1609|0.1876|0.1691|0.2537|gnomADg_AFR||0&1|0&1|22864933|||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,G|non_coding_transcript_exon_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined|7/10||ENST00000482816.5:n.676T>C||676|||||rs10907177&COSV53881062||-1||SNV|HGNC|HGNC:26062||||5||||||||||||||0.1789|0.239|0.1311|0.122|0.1809|0.1881|0.1657|0.2517|0.0973|0.2162|0.09526|0.2382|0.1639|0.1843|0.175|0.1886|0.2537|0.2314|0.129|0.2153|0.1005|0.2365|0.2025|0.1609|0.1876|0.1691|0.2537|gnomADg_AFR||0&1|0&1|22864933|||||||||,G|non_coding_transcript_exon_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000487177|retained_intron|2/3||ENST00000487177.5:n.545T>C||545|||||rs10907177&COSV53881062||-1||SNV|HGNC|HGNC:26062||||2||||||||||||||0.1789|0.239|0.1311|0.122|0.1809|0.1881|0.1657|0.2517|0.0973|0.2162|0.09526|0.2382|0.1639|0.1843|0.175|0.1886|0.2537|0.2314|0.129|0.2153|0.1005|0.2365|0.2025|0.1609|0.1876|0.1691|0.2537|gnomADg_AFR||0&1|0&1|22864933||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,4:0.5:8:0,0:2,2:2,2:2,2,2,2 -chr1 1085966 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=36;POPAF=7.3;TLOD=6.75;SRC=custom;GRP=custom;CSQ=G|synonymous_variant|LOW|C1orf159|ENSG00000131591|Transcript|ENST00000379319|protein_coding|7/10||ENST00000379319.5:c.357T>C|ENSP00000368623.1:p.Ile119%3D|664|357|119|I|atT/atC|rs10907177&COSV53881062||-1||SNV|HGNC|HGNC:26062||||5|P1|CCDS7.2|ENSP00000368623|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||0.1789|0.239|0.1311|0.122|0.1809|0.1881|0.1657|0.2517|0.0973|0.2162|0.09526|0.2382|0.1639|0.1843|0.175|0.1886|0.2537|0.2314|0.129|0.2153|0.1005|0.2365|0.2025|0.1609|0.1876|0.1691|0.2537|gnomADg_AFR||0&1|0&1|22864933|||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,G|synonymous_variant|LOW|C1orf159|ENSG00000131591|Transcript|ENST00000379320|protein_coding|5/8||ENST00000379320.5:c.357T>C|ENSP00000368624.1:p.Ile119%3D|988|357|119|I|atT/atC|rs10907177&COSV53881062||-1||SNV|HGNC|HGNC:26062||||2||CCDS85917.1|ENSP00000368624||Q5T2W9.107|UPI0000205ACE||||||||0.1789|0.239|0.1311|0.122|0.1809|0.1881|0.1657|0.2517|0.0973|0.2162|0.09526|0.2382|0.1639|0.1843|0.175|0.1886|0.2537|0.2314|0.129|0.2153|0.1005|0.2365|0.2025|0.1609|0.1876|0.1691|0.2537|gnomADg_AFR||0&1|0&1|22864933|||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,G|synonymous_variant&NMD_transcript_variant|LOW|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay|7/11||ENST00000379325.7:c.357T>C|ENSP00000368629.3:p.Ile119%3D|528|357|119|I|atT/atC|rs10907177&COSV53881062||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||0.1789|0.239|0.1311|0.122|0.1809|0.1881|0.1657|0.2517|0.0973|0.2162|0.09526|0.2382|0.1639|0.1843|0.175|0.1886|0.2537|0.2314|0.129|0.2153|0.1005|0.2365|0.2025|0.1609|0.1876|0.1691|0.2537|gnomADg_AFR||0&1|0&1|22864933|||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,G|synonymous_variant|LOW|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding|9/12||ENST00000379339.5:c.465T>C|ENSP00000368644.1:p.Ile155%3D|676|465|155|I|atT/atC|rs10907177&COSV53881062||-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||0.1789|0.239|0.1311|0.122|0.1809|0.1881|0.1657|0.2517|0.0973|0.2162|0.09526|0.2382|0.1639|0.1843|0.175|0.1886|0.2537|0.2314|0.129|0.2153|0.1005|0.2365|0.2025|0.1609|0.1876|0.1691|0.2537|gnomADg_AFR||0&1|0&1|22864933|||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,G|synonymous_variant|LOW|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding|7/10||ENST00000421241.7:c.357T>C|ENSP00000400736.2:p.Ile119%3D|522|357|119|I|atT/atC|rs10907177&COSV53881062||-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||0.1789|0.239|0.1311|0.122|0.1809|0.1881|0.1657|0.2517|0.0973|0.2162|0.09526|0.2382|0.1639|0.1843|0.175|0.1886|0.2537|0.2314|0.129|0.2153|0.1005|0.2365|0.2025|0.1609|0.1876|0.1691|0.2537|gnomADg_AFR||0&1|0&1|22864933|||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,G|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000427787|protein_coding||||||||||rs10907177&COSV53881062|4440|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000395935||B2REC5.64|UPI000173DCFE||||||||0.1789|0.239|0.1311|0.122|0.1809|0.1881|0.1657|0.2517|0.0973|0.2162|0.09526|0.2382|0.1639|0.1843|0.175|0.1886|0.2537|0.2314|0.129|0.2153|0.1005|0.2365|0.2025|0.1609|0.1876|0.1691|0.2537|gnomADg_AFR||0&1|0&1|22864933|||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLC||,G|synonymous_variant|LOW|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding|7/11||ENST00000434641.5:c.357T>C|ENSP00000390635.1:p.Ile119%3D|528|357|119|I|atT/atC|rs10907177&COSV53881062||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||0.1789|0.239|0.1311|0.122|0.1809|0.1881|0.1657|0.2517|0.0973|0.2162|0.09526|0.2382|0.1639|0.1843|0.175|0.1886|0.2537|0.2314|0.129|0.2153|0.1005|0.2365|0.2025|0.1609|0.1876|0.1691|0.2537|gnomADg_AFR||0&1|0&1|22864933|||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,G|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000442117|protein_coding||||||||||rs10907177&COSV53881062|1609|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000416740||B2REC4.74|UPI000173DCFD||||||||0.1789|0.239|0.1311|0.122|0.1809|0.1881|0.1657|0.2517|0.0973|0.2162|0.09526|0.2382|0.1639|0.1843|0.175|0.1886|0.2537|0.2314|0.129|0.2153|0.1005|0.2365|0.2025|0.1609|0.1876|0.1691|0.2537|gnomADg_AFR||0&1|0&1|22864933|||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNA||,G|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding||||||||||rs10907177&COSV53881062|1173|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20||||||||0.1789|0.239|0.1311|0.122|0.1809|0.1881|0.1657|0.2517|0.0973|0.2162|0.09526|0.2382|0.1639|0.1843|0.175|0.1886|0.2537|0.2314|0.129|0.2153|0.1005|0.2365|0.2025|0.1609|0.1876|0.1691|0.2537|gnomADg_AFR||0&1|0&1|22864933|||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,G|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000464905|protein_coding_CDS_not_defined||||||||||rs10907177&COSV53881062|1894|-1||SNV|HGNC|HGNC:26062||||3||||||||||||||0.1789|0.239|0.1311|0.122|0.1809|0.1881|0.1657|0.2517|0.0973|0.2162|0.09526|0.2382|0.1639|0.1843|0.175|0.1886|0.2537|0.2314|0.129|0.2153|0.1005|0.2365|0.2025|0.1609|0.1876|0.1691|0.2537|gnomADg_AFR||0&1|0&1|22864933|||||||||,G|non_coding_transcript_exon_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000465822|retained_intron|6/9||ENST00000465822.5:n.466T>C||466|||||rs10907177&COSV53881062||-1||SNV|HGNC|HGNC:26062||||2||||||||||||||0.1789|0.239|0.1311|0.122|0.1809|0.1881|0.1657|0.2517|0.0973|0.2162|0.09526|0.2382|0.1639|0.1843|0.175|0.1886|0.2537|0.2314|0.129|0.2153|0.1005|0.2365|0.2025|0.1609|0.1876|0.1691|0.2537|gnomADg_AFR||0&1|0&1|22864933|||||||||,G|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay|8/12||ENST00000467751.5:c.*118T>C||619|||||rs10907177&COSV53881062||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||0.1789|0.239|0.1311|0.122|0.1809|0.1881|0.1657|0.2517|0.0973|0.2162|0.09526|0.2382|0.1639|0.1843|0.175|0.1886|0.2537|0.2314|0.129|0.2153|0.1005|0.2365|0.2025|0.1609|0.1876|0.1691|0.2537|gnomADg_AFR||0&1|0&1|22864933|||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,G|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000473600|retained_intron||||||||||rs10907177&COSV53881062|1175|-1||SNV|HGNC|HGNC:26062||||3||||||||||||||0.1789|0.239|0.1311|0.122|0.1809|0.1881|0.1657|0.2517|0.0973|0.2162|0.09526|0.2382|0.1639|0.1843|0.175|0.1886|0.2537|0.2314|0.129|0.2153|0.1005|0.2365|0.2025|0.1609|0.1876|0.1691|0.2537|gnomADg_AFR||0&1|0&1|22864933|||||||||,G|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding||||||||||rs10907177&COSV53881062|1224|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21||||||||0.1789|0.239|0.1311|0.122|0.1809|0.1881|0.1657|0.2517|0.0973|0.2162|0.09526|0.2382|0.1639|0.1843|0.175|0.1886|0.2537|0.2314|0.129|0.2153|0.1005|0.2365|0.2025|0.1609|0.1876|0.1691|0.2537|gnomADg_AFR||0&1|0&1|22864933|||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,G|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay|7/10||ENST00000477196.5:c.*1006T>C||1468|||||rs10907177&COSV53881062||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||0.1789|0.239|0.1311|0.122|0.1809|0.1881|0.1657|0.2517|0.0973|0.2162|0.09526|0.2382|0.1639|0.1843|0.175|0.1886|0.2537|0.2314|0.129|0.2153|0.1005|0.2365|0.2025|0.1609|0.1876|0.1691|0.2537|gnomADg_AFR||0&1|0&1|22864933|||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,G|non_coding_transcript_exon_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined|7/10||ENST00000482816.5:n.676T>C||676|||||rs10907177&COSV53881062||-1||SNV|HGNC|HGNC:26062||||5||||||||||||||0.1789|0.239|0.1311|0.122|0.1809|0.1881|0.1657|0.2517|0.0973|0.2162|0.09526|0.2382|0.1639|0.1843|0.175|0.1886|0.2537|0.2314|0.129|0.2153|0.1005|0.2365|0.2025|0.1609|0.1876|0.1691|0.2537|gnomADg_AFR||0&1|0&1|22864933|||||||||,G|non_coding_transcript_exon_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000487177|retained_intron|2/3||ENST00000487177.5:n.545T>C||545|||||rs10907177&COSV53881062||-1||SNV|HGNC|HGNC:26062||||2||||||||||||||0.1789|0.239|0.1311|0.122|0.1809|0.1881|0.1657|0.2517|0.0973|0.2162|0.09526|0.2382|0.1639|0.1843|0.175|0.1886|0.2537|0.2314|0.129|0.2153|0.1005|0.2365|0.2025|0.1609|0.1876|0.1691|0.2537|gnomADg_AFR||0&1|0&1|22864933||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1087930 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=69;POPAF=7.3;TLOD=3.38;SRC=custom;GRP=custom;CSQ=C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379319|protein_coding||4/9|ENST00000379319.5:c.149-333A>G|||||||rs11260589||-1||SNV|HGNC|HGNC:26062||||5|P1|CCDS7.2|ENSP00000368623|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||0.1897|0.2716|0.1239|0.1042|0.1759|0.228||||||||||0.1907|0.271|0.138|0.1228|0.218|0.08778|0.2368|0.2152|0.1563|0.1891|0.2099|0.2716|AFR|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379320|protein_coding||2/7|ENST00000379320.5:c.149-333A>G|||||||rs11260589||-1||SNV|HGNC|HGNC:26062||||2||CCDS85917.1|ENSP00000368624||Q5T2W9.107|UPI0000205ACE||||||||0.1897|0.2716|0.1239|0.1042|0.1759|0.228||||||||||0.1907|0.271|0.138|0.1228|0.218|0.08778|0.2368|0.2152|0.1563|0.1891|0.2099|0.2716|AFR|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay||4/10|ENST00000379325.7:c.149-333A>G|||||||rs11260589||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||0.1897|0.2716|0.1239|0.1042|0.1759|0.228||||||||||0.1907|0.271|0.138|0.1228|0.218|0.08778|0.2368|0.2152|0.1563|0.1891|0.2099|0.2716|AFR|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding||6/11|ENST00000379339.5:c.257-333A>G|||||||rs11260589||-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||0.1897|0.2716|0.1239|0.1042|0.1759|0.228||||||||||0.1907|0.271|0.138|0.1228|0.218|0.08778|0.2368|0.2152|0.1563|0.1891|0.2099|0.2716|AFR|||||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding||4/9|ENST00000421241.7:c.149-333A>G|||||||rs11260589||-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||0.1897|0.2716|0.1239|0.1042|0.1759|0.228||||||||||0.1907|0.271|0.138|0.1228|0.218|0.08778|0.2368|0.2152|0.1563|0.1891|0.2099|0.2716|AFR|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000427787|protein_coding||||||||||rs11260589|2476|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000395935||B2REC5.64|UPI000173DCFE||||||||0.1897|0.2716|0.1239|0.1042|0.1759|0.228||||||||||0.1907|0.271|0.138|0.1228|0.218|0.08778|0.2368|0.2152|0.1563|0.1891|0.2099|0.2716|AFR|||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLC||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||4/10|ENST00000434641.5:c.149-333A>G|||||||rs11260589||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||0.1897|0.2716|0.1239|0.1042|0.1759|0.228||||||||||0.1907|0.271|0.138|0.1228|0.218|0.08778|0.2368|0.2152|0.1563|0.1891|0.2099|0.2716|AFR|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000442117|protein_coding||4/4|ENST00000442117.5:c.149-333A>G|||||||rs11260589||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000416740||B2REC4.74|UPI000173DCFD||||||||0.1897|0.2716|0.1239|0.1042|0.1759|0.228||||||||||0.1907|0.271|0.138|0.1228|0.218|0.08778|0.2368|0.2152|0.1563|0.1891|0.2099|0.2716|AFR|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNA||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding||5/6|ENST00000462097.5:c.149-333A>G|||||||rs11260589||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20||||||||0.1897|0.2716|0.1239|0.1042|0.1759|0.228||||||||||0.1907|0.271|0.138|0.1228|0.218|0.08778|0.2368|0.2152|0.1563|0.1891|0.2099|0.2716|AFR|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,C|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000464905|protein_coding_CDS_not_defined||||||||||rs11260589|3858|-1||SNV|HGNC|HGNC:26062||||3||||||||||||||0.1897|0.2716|0.1239|0.1042|0.1759|0.228||||||||||0.1907|0.271|0.138|0.1228|0.218|0.08778|0.2368|0.2152|0.1563|0.1891|0.2099|0.2716|AFR|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000465822|retained_intron||3/8|ENST00000465822.5:n.258-333A>G|||||||rs11260589||-1||SNV|HGNC|HGNC:26062||||2||||||||||||||0.1897|0.2716|0.1239|0.1042|0.1759|0.228||||||||||0.1907|0.271|0.138|0.1228|0.218|0.08778|0.2368|0.2152|0.1563|0.1891|0.2099|0.2716|AFR|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay||5/11|ENST00000467751.5:c.246-333A>G|||||||rs11260589||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||0.1897|0.2716|0.1239|0.1042|0.1759|0.228||||||||||0.1907|0.271|0.138|0.1228|0.218|0.08778|0.2368|0.2152|0.1563|0.1891|0.2099|0.2716|AFR|||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,C|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000472741|retained_intron||||||||||rs11260589|3116|-1||SNV|HGNC|HGNC:26062||||4||||||||||||||0.1897|0.2716|0.1239|0.1042|0.1759|0.228||||||||||0.1907|0.271|0.138|0.1228|0.218|0.08778|0.2368|0.2152|0.1563|0.1891|0.2099|0.2716|AFR|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000473600|retained_intron||3/4|ENST00000473600.1:n.634-333A>G|||||||rs11260589||-1||SNV|HGNC|HGNC:26062||||3||||||||||||||0.1897|0.2716|0.1239|0.1042|0.1759|0.228||||||||||0.1907|0.271|0.138|0.1228|0.218|0.08778|0.2368|0.2152|0.1563|0.1891|0.2099|0.2716|AFR|||||||||||||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding||4/5|ENST00000475119.5:c.149-333A>G|||||||rs11260589||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21||||||||0.1897|0.2716|0.1239|0.1042|0.1759|0.228||||||||||0.1907|0.271|0.138|0.1228|0.218|0.08778|0.2368|0.2152|0.1563|0.1891|0.2099|0.2716|AFR|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,C|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay||4/9|ENST00000477196.5:c.*798-333A>G|||||||rs11260589||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||0.1897|0.2716|0.1239|0.1042|0.1759|0.228||||||||||0.1907|0.271|0.138|0.1228|0.218|0.08778|0.2368|0.2152|0.1563|0.1891|0.2099|0.2716|AFR|||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,C|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000480643|protein_coding||||||||||rs11260589|3570|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||4|||ENSP00000464657||J3QSF0.36|UPI0003F48015||||||||0.1897|0.2716|0.1239|0.1042|0.1759|0.228||||||||||0.1907|0.271|0.138|0.1228|0.218|0.08778|0.2368|0.2152|0.1563|0.1891|0.2099|0.2716|AFR|||||||||||MALRHLALLAGLLV||,C|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||4/9|ENST00000482816.5:n.468-333A>G|||||||rs11260589||-1||SNV|HGNC|HGNC:26062||||5||||||||||||||0.1897|0.2716|0.1239|0.1042|0.1759|0.228||||||||||0.1907|0.271|0.138|0.1228|0.218|0.08778|0.2368|0.2152|0.1563|0.1891|0.2099|0.2716|AFR|||||||||||||,C|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000487177|retained_intron||||||||||rs11260589|294|-1||SNV|HGNC|HGNC:26062||||2||||||||||||||0.1897|0.2716|0.1239|0.1042|0.1759|0.228||||||||||0.1907|0.271|0.138|0.1228|0.218|0.08778|0.2368|0.2152|0.1563|0.1891|0.2099|0.2716|AFR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 1090943 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C2|1%2C1;DP=6;ECNT=1;GERMQ=38;MBQ=25,34;MFRL=0,0;MMQ=60,60;MPOS=75;POPAF=7.3;TLOD=6.67;SRC=custom;GRP=custom;CSQ=C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379319|protein_coding||3/9|ENST00000379319.5:c.73-515A>G|||||||||-1||SNV|HGNC|HGNC:26062||||5|P1|CCDS7.2|ENSP00000368623|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379320|protein_coding||1/7|ENST00000379320.5:c.73-515A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2||CCDS85917.1|ENSP00000368624||Q5T2W9.107|UPI0000205ACE||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay||3/10|ENST00000379325.7:c.73-515A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,C|missense_variant|MODERATE|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding|5/12||ENST00000379339.5:c.113A>G|ENSP00000368644.1:p.Glu38Gly|324|113|38|E/G|gAg/gGg|||-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1||tolerated_low_confidence(0.43)|unknown(0)||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding||3/9|ENST00000421241.7:c.73-515A>G|||||||||-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000427787|protein_coding||4/4|ENST00000427787.5:c.169+335A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000395935||B2REC5.64|UPI000173DCFE||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLC||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||3/10|ENST00000434641.5:c.73-515A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000442117|protein_coding||3/4|ENST00000442117.5:c.73-515A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000416740||B2REC4.74|UPI000173DCFD||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNA||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding||4/6|ENST00000462097.5:c.73-515A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,C|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000465822|retained_intron||2/8|ENST00000465822.5:n.182-515A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay||4/11|ENST00000467751.5:c.169+335A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,C|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000472741|retained_intron|||||||||||103|-1||SNV|HGNC|HGNC:26062||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000473600|retained_intron||2/4|ENST00000473600.1:n.399-356A>G|||||||||-1||SNV|HGNC|HGNC:26062||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding||3/5|ENST00000475119.5:c.73-515A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,C|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay|4/10||ENST00000477196.5:c.*207A>G||669|||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,C|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000480643|protein_coding|||||||||||557|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||4|||ENSP00000464657||J3QSF0.36|UPI0003F48015||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLV||,C|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||3/9|ENST00000482816.5:n.392-515A>G|||||||||-1||SNV|HGNC|HGNC:26062||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000487177|retained_intron|||||||||||3307|-1||SNV|HGNC|HGNC:26062||||2|||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,2:0.4:5:0,0:1,1:2,1:1,2,1,1 -chr1 1091327 . C A . haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=2;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=24;POPAF=7.3;TLOD=4.2;SRC=custom;GRP=custom;CSQ=A|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379319|protein_coding||3/9|ENST00000379319.5:c.72+145G>T|||||||rs4074137||-1||SNV|HGNC|HGNC:26062||||5|P1|CCDS7.2|ENSP00000368623|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||0.6270|0.3457|0.6945|0.9236|0.6014|0.68|0.6339|0.4071|0.6927|0.637|0.8963|0.5737|0.5886|0.6137|0.658|0.5623|0.41|0.5967|0.6519|0.6454|0.9007|0.5846|0.462|0.5937|0.5688|0.6674|0.9236|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,A|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379320|protein_coding||1/7|ENST00000379320.5:c.72+145G>T|||||||rs4074137||-1||SNV|HGNC|HGNC:26062||||2||CCDS85917.1|ENSP00000368624||Q5T2W9.107|UPI0000205ACE||||||||0.6270|0.3457|0.6945|0.9236|0.6014|0.68|0.6339|0.4071|0.6927|0.637|0.8963|0.5737|0.5886|0.6137|0.658|0.5623|0.41|0.5967|0.6519|0.6454|0.9007|0.5846|0.462|0.5937|0.5688|0.6674|0.9236|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,A|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay||3/10|ENST00000379325.7:c.72+145G>T|||||||rs4074137||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||0.6270|0.3457|0.6945|0.9236|0.6014|0.68|0.6339|0.4071|0.6927|0.637|0.8963|0.5737|0.5886|0.6137|0.658|0.5623|0.41|0.5967|0.6519|0.6454|0.9007|0.5846|0.462|0.5937|0.5688|0.6674|0.9236|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,A|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding||4/11|ENST00000379339.5:c.72+145G>T|||||||rs4074137||-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||0.6270|0.3457|0.6945|0.9236|0.6014|0.68|0.6339|0.4071|0.6927|0.637|0.8963|0.5737|0.5886|0.6137|0.658|0.5623|0.41|0.5967|0.6519|0.6454|0.9007|0.5846|0.462|0.5937|0.5688|0.6674|0.9236|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,A|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding||3/9|ENST00000421241.7:c.72+145G>T|||||||rs4074137||-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||0.6270|0.3457|0.6945|0.9236|0.6014|0.68|0.6339|0.4071|0.6927|0.637|0.8963|0.5737|0.5886|0.6137|0.658|0.5623|0.41|0.5967|0.6519|0.6454|0.9007|0.5846|0.462|0.5937|0.5688|0.6674|0.9236|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,A|synonymous_variant|LOW|C1orf159|ENSG00000131591|Transcript|ENST00000427787|protein_coding|4/5||ENST00000427787.5:c.120G>T|ENSP00000395935.1:p.Gly40%3D|503|120|40|G|ggG/ggT|rs4074137||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000395935||B2REC5.64|UPI000173DCFE||||||||0.6270|0.3457|0.6945|0.9236|0.6014|0.68|0.6339|0.4071|0.6927|0.637|0.8963|0.5737|0.5886|0.6137|0.658|0.5623|0.41|0.5967|0.6519|0.6454|0.9007|0.5846|0.462|0.5937|0.5688|0.6674|0.9236|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLC||,A|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||3/10|ENST00000434641.5:c.72+145G>T|||||||rs4074137||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||0.6270|0.3457|0.6945|0.9236|0.6014|0.68|0.6339|0.4071|0.6927|0.637|0.8963|0.5737|0.5886|0.6137|0.658|0.5623|0.41|0.5967|0.6519|0.6454|0.9007|0.5846|0.462|0.5937|0.5688|0.6674|0.9236|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,A|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000442117|protein_coding||3/4|ENST00000442117.5:c.72+145G>T|||||||rs4074137||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000416740||B2REC4.74|UPI000173DCFD||||||||0.6270|0.3457|0.6945|0.9236|0.6014|0.68|0.6339|0.4071|0.6927|0.637|0.8963|0.5737|0.5886|0.6137|0.658|0.5623|0.41|0.5967|0.6519|0.6454|0.9007|0.5846|0.462|0.5937|0.5688|0.6674|0.9236|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNA||,A|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding||4/6|ENST00000462097.5:c.72+145G>T|||||||rs4074137||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20||||||||0.6270|0.3457|0.6945|0.9236|0.6014|0.68|0.6339|0.4071|0.6927|0.637|0.8963|0.5737|0.5886|0.6137|0.658|0.5623|0.41|0.5967|0.6519|0.6454|0.9007|0.5846|0.462|0.5937|0.5688|0.6674|0.9236|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,A|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000465822|retained_intron||2/8|ENST00000465822.5:n.181+145G>T|||||||rs4074137||-1||SNV|HGNC|HGNC:26062||||2||||||||||||||0.6270|0.3457|0.6945|0.9236|0.6014|0.68|0.6339|0.4071|0.6927|0.637|0.8963|0.5737|0.5886|0.6137|0.658|0.5623|0.41|0.5967|0.6519|0.6454|0.9007|0.5846|0.462|0.5937|0.5688|0.6674|0.9236|EAS|||||||||||||,A|synonymous_variant&NMD_transcript_variant|LOW|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay|4/12||ENST00000467751.5:c.120G>T|ENSP00000463144.1:p.Gly40%3D|285|120|40|G|ggG/ggT|rs4074137||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||0.6270|0.3457|0.6945|0.9236|0.6014|0.68|0.6339|0.4071|0.6927|0.637|0.8963|0.5737|0.5886|0.6137|0.658|0.5623|0.41|0.5967|0.6519|0.6454|0.9007|0.5846|0.462|0.5937|0.5688|0.6674|0.9236|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,A|non_coding_transcript_exon_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000472741|retained_intron|3/3||ENST00000472741.5:n.380G>T||380|||||rs4074137||-1||SNV|HGNC|HGNC:26062||||4||||||||||||||0.6270|0.3457|0.6945|0.9236|0.6014|0.68|0.6339|0.4071|0.6927|0.637|0.8963|0.5737|0.5886|0.6137|0.658|0.5623|0.41|0.5967|0.6519|0.6454|0.9007|0.5846|0.462|0.5937|0.5688|0.6674|0.9236|EAS|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000473600|retained_intron||2/4|ENST00000473600.1:n.398+145G>T|||||||rs4074137||-1||SNV|HGNC|HGNC:26062||||3||||||||||||||0.6270|0.3457|0.6945|0.9236|0.6014|0.68|0.6339|0.4071|0.6927|0.637|0.8963|0.5737|0.5886|0.6137|0.658|0.5623|0.41|0.5967|0.6519|0.6454|0.9007|0.5846|0.462|0.5937|0.5688|0.6674|0.9236|EAS|||||||||||||,A|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding||3/5|ENST00000475119.5:c.72+145G>T|||||||rs4074137||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21||||||||0.6270|0.3457|0.6945|0.9236|0.6014|0.68|0.6339|0.4071|0.6927|0.637|0.8963|0.5737|0.5886|0.6137|0.658|0.5623|0.41|0.5967|0.6519|0.6454|0.9007|0.5846|0.462|0.5937|0.5688|0.6674|0.9236|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,A|synonymous_variant&NMD_transcript_variant|LOW|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay|4/10||ENST00000477196.5:c.120G>T|ENSP00000462798.1:p.Gly40%3D|285|120|40|G|ggG/ggT|rs4074137||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||0.6270|0.3457|0.6945|0.9236|0.6014|0.68|0.6339|0.4071|0.6927|0.637|0.8963|0.5737|0.5886|0.6137|0.658|0.5623|0.41|0.5967|0.6519|0.6454|0.9007|0.5846|0.462|0.5937|0.5688|0.6674|0.9236|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,A|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000480643|protein_coding||||||||||rs4074137|173|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||4|||ENSP00000464657||J3QSF0.36|UPI0003F48015||||||||0.6270|0.3457|0.6945|0.9236|0.6014|0.68|0.6339|0.4071|0.6927|0.637|0.8963|0.5737|0.5886|0.6137|0.658|0.5623|0.41|0.5967|0.6519|0.6454|0.9007|0.5846|0.462|0.5937|0.5688|0.6674|0.9236|EAS|||||||||||MALRHLALLAGLLV||,A|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||3/9|ENST00000482816.5:n.391+145G>T|||||||rs4074137||-1||SNV|HGNC|HGNC:26062||||5||||||||||||||0.6270|0.3457|0.6945|0.9236|0.6014|0.68|0.6339|0.4071|0.6927|0.637|0.8963|0.5737|0.5886|0.6137|0.658|0.5623|0.41|0.5967|0.6519|0.6454|0.9007|0.5846|0.462|0.5937|0.5688|0.6674|0.9236|EAS|||||||||||||,A|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000487177|retained_intron||||||||||rs4074137|3691|-1||SNV|HGNC|HGNC:26062||||2||||||||||||||0.6270|0.3457|0.6945|0.9236|0.6014|0.68|0.6339|0.4071|0.6927|0.637|0.8963|0.5737|0.5886|0.6137|0.658|0.5623|0.41|0.5967|0.6519|0.6454|0.9007|0.5846|0.462|0.5937|0.5688|0.6674|0.9236|EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,1:0,0:0,1:0|1:1091327_C_A:1091327:0,0,0,1 -chr1 1091331 . G T . base_qual;haplotype AS_FilterStatus=base_qual;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=2;GERMQ=44;MBQ=0,13;MFRL=0,0;MMQ=60,60;MPOS=20;POPAF=7.3;TLOD=4.2;SRC=custom;GRP=custom;CSQ=T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379319|protein_coding||3/9|ENST00000379319.5:c.72+141C>A|||||||||-1||SNV|HGNC|HGNC:26062||||5|P1|CCDS7.2|ENSP00000368623|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379320|protein_coding||1/7|ENST00000379320.5:c.72+141C>A|||||||||-1||SNV|HGNC|HGNC:26062||||2||CCDS85917.1|ENSP00000368624||Q5T2W9.107|UPI0000205ACE||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay||3/10|ENST00000379325.7:c.72+141C>A|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding||4/11|ENST00000379339.5:c.72+141C>A|||||||||-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding||3/9|ENST00000421241.7:c.72+141C>A|||||||||-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|missense_variant|MODERATE|C1orf159|ENSG00000131591|Transcript|ENST00000427787|protein_coding|4/5||ENST00000427787.5:c.116C>A|ENSP00000395935.1:p.Ala39Asp|499|116|39|A/D|gCt/gAt|||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000395935||B2REC5.64|UPI000173DCFE|||tolerated_low_confidence(0.06)|unknown(0)||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLC||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||3/10|ENST00000434641.5:c.72+141C>A|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000442117|protein_coding||3/4|ENST00000442117.5:c.72+141C>A|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000416740||B2REC4.74|UPI000173DCFD||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNA||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding||4/6|ENST00000462097.5:c.72+141C>A|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,T|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000465822|retained_intron||2/8|ENST00000465822.5:n.181+141C>A|||||||||-1||SNV|HGNC|HGNC:26062||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|missense_variant&NMD_transcript_variant|MODERATE|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay|4/12||ENST00000467751.5:c.116C>A|ENSP00000463144.1:p.Ala39Asp|281|116|39|A/D|gCt/gAt|||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB|||deleterious_low_confidence(0.03)|unknown(0)||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,T|non_coding_transcript_exon_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000472741|retained_intron|3/3||ENST00000472741.5:n.376C>A||376|||||||-1||SNV|HGNC|HGNC:26062||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000473600|retained_intron||2/4|ENST00000473600.1:n.398+141C>A|||||||||-1||SNV|HGNC|HGNC:26062||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding||3/5|ENST00000475119.5:c.72+141C>A|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,T|missense_variant&NMD_transcript_variant|MODERATE|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay|4/10||ENST00000477196.5:c.116C>A|ENSP00000462798.1:p.Ala39Asp|281|116|39|A/D|gCt/gAt|||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028|||deleterious_low_confidence(0.05)|unknown(0)||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,T|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000480643|protein_coding|||||||||||169|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||4|||ENSP00000464657||J3QSF0.36|UPI0003F48015||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLV||,T|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||3/9|ENST00000482816.5:n.391+141C>A|||||||||-1||SNV|HGNC|HGNC:26062||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000487177|retained_intron|||||||||||3695|-1||SNV|HGNC|HGNC:26062||||2|||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,0:0,0:0,1:0|1:1091327_C_A:1091327:0,0,0,1 -chr1 1091421 . T A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=104;POPAF=7.3;TLOD=7.15;SRC=custom;GRP=custom;CSQ=A|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379319|protein_coding||3/9|ENST00000379319.5:c.72+51A>T|||||||rs4562563||-1||SNV|HGNC|HGNC:26062||||5|P1|CCDS7.2|ENSP00000368623|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||0.6266|0.3411|0.7277|0.8879|0.5944|0.7045|0.6674|0.4078|0.7836|0.6524|0.9028|0.6323|0.6053|0.6433|0.705|0.5775|0.4157|0.6151|0.6819|0.6449|0.8907|0.6419|0.5253|0.6056|0.5865|0.709|0.9028|gnomADe_EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,A|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379320|protein_coding||1/7|ENST00000379320.5:c.72+51A>T|||||||rs4562563||-1||SNV|HGNC|HGNC:26062||||2||CCDS85917.1|ENSP00000368624||Q5T2W9.107|UPI0000205ACE||||||||0.6266|0.3411|0.7277|0.8879|0.5944|0.7045|0.6674|0.4078|0.7836|0.6524|0.9028|0.6323|0.6053|0.6433|0.705|0.5775|0.4157|0.6151|0.6819|0.6449|0.8907|0.6419|0.5253|0.6056|0.5865|0.709|0.9028|gnomADe_EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,A|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay||3/10|ENST00000379325.7:c.72+51A>T|||||||rs4562563||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||0.6266|0.3411|0.7277|0.8879|0.5944|0.7045|0.6674|0.4078|0.7836|0.6524|0.9028|0.6323|0.6053|0.6433|0.705|0.5775|0.4157|0.6151|0.6819|0.6449|0.8907|0.6419|0.5253|0.6056|0.5865|0.709|0.9028|gnomADe_EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,A|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding||4/11|ENST00000379339.5:c.72+51A>T|||||||rs4562563||-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||0.6266|0.3411|0.7277|0.8879|0.5944|0.7045|0.6674|0.4078|0.7836|0.6524|0.9028|0.6323|0.6053|0.6433|0.705|0.5775|0.4157|0.6151|0.6819|0.6449|0.8907|0.6419|0.5253|0.6056|0.5865|0.709|0.9028|gnomADe_EAS|||||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,A|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding||3/9|ENST00000421241.7:c.72+51A>T|||||||rs4562563||-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||0.6266|0.3411|0.7277|0.8879|0.5944|0.7045|0.6674|0.4078|0.7836|0.6524|0.9028|0.6323|0.6053|0.6433|0.705|0.5775|0.4157|0.6151|0.6819|0.6449|0.8907|0.6419|0.5253|0.6056|0.5865|0.709|0.9028|gnomADe_EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,A|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000427787|protein_coding||3/4|ENST00000427787.5:c.73-47A>T|||||||rs4562563||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000395935||B2REC5.64|UPI000173DCFE||||||||0.6266|0.3411|0.7277|0.8879|0.5944|0.7045|0.6674|0.4078|0.7836|0.6524|0.9028|0.6323|0.6053|0.6433|0.705|0.5775|0.4157|0.6151|0.6819|0.6449|0.8907|0.6419|0.5253|0.6056|0.5865|0.709|0.9028|gnomADe_EAS|||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLC||,A|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||3/10|ENST00000434641.5:c.72+51A>T|||||||rs4562563||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||0.6266|0.3411|0.7277|0.8879|0.5944|0.7045|0.6674|0.4078|0.7836|0.6524|0.9028|0.6323|0.6053|0.6433|0.705|0.5775|0.4157|0.6151|0.6819|0.6449|0.8907|0.6419|0.5253|0.6056|0.5865|0.709|0.9028|gnomADe_EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,A|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000442117|protein_coding||3/4|ENST00000442117.5:c.72+51A>T|||||||rs4562563||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000416740||B2REC4.74|UPI000173DCFD||||||||0.6266|0.3411|0.7277|0.8879|0.5944|0.7045|0.6674|0.4078|0.7836|0.6524|0.9028|0.6323|0.6053|0.6433|0.705|0.5775|0.4157|0.6151|0.6819|0.6449|0.8907|0.6419|0.5253|0.6056|0.5865|0.709|0.9028|gnomADe_EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNA||,A|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding||4/6|ENST00000462097.5:c.72+51A>T|||||||rs4562563||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20||||||||0.6266|0.3411|0.7277|0.8879|0.5944|0.7045|0.6674|0.4078|0.7836|0.6524|0.9028|0.6323|0.6053|0.6433|0.705|0.5775|0.4157|0.6151|0.6819|0.6449|0.8907|0.6419|0.5253|0.6056|0.5865|0.709|0.9028|gnomADe_EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,A|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000465822|retained_intron||2/8|ENST00000465822.5:n.181+51A>T|||||||rs4562563||-1||SNV|HGNC|HGNC:26062||||2||||||||||||||0.6266|0.3411|0.7277|0.8879|0.5944|0.7045|0.6674|0.4078|0.7836|0.6524|0.9028|0.6323|0.6053|0.6433|0.705|0.5775|0.4157|0.6151|0.6819|0.6449|0.8907|0.6419|0.5253|0.6056|0.5865|0.709|0.9028|gnomADe_EAS|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay||3/11|ENST00000467751.5:c.73-47A>T|||||||rs4562563||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||0.6266|0.3411|0.7277|0.8879|0.5944|0.7045|0.6674|0.4078|0.7836|0.6524|0.9028|0.6323|0.6053|0.6433|0.705|0.5775|0.4157|0.6151|0.6819|0.6449|0.8907|0.6419|0.5253|0.6056|0.5865|0.709|0.9028|gnomADe_EAS|||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,A|non_coding_transcript_exon_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000472741|retained_intron|3/3||ENST00000472741.5:n.286A>T||286|||||rs4562563||-1||SNV|HGNC|HGNC:26062||||4||||||||||||||0.6266|0.3411|0.7277|0.8879|0.5944|0.7045|0.6674|0.4078|0.7836|0.6524|0.9028|0.6323|0.6053|0.6433|0.705|0.5775|0.4157|0.6151|0.6819|0.6449|0.8907|0.6419|0.5253|0.6056|0.5865|0.709|0.9028|gnomADe_EAS|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000473600|retained_intron||2/4|ENST00000473600.1:n.398+51A>T|||||||rs4562563||-1||SNV|HGNC|HGNC:26062||||3||||||||||||||0.6266|0.3411|0.7277|0.8879|0.5944|0.7045|0.6674|0.4078|0.7836|0.6524|0.9028|0.6323|0.6053|0.6433|0.705|0.5775|0.4157|0.6151|0.6819|0.6449|0.8907|0.6419|0.5253|0.6056|0.5865|0.709|0.9028|gnomADe_EAS|||||||||||||,A|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding||3/5|ENST00000475119.5:c.72+51A>T|||||||rs4562563||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21||||||||0.6266|0.3411|0.7277|0.8879|0.5944|0.7045|0.6674|0.4078|0.7836|0.6524|0.9028|0.6323|0.6053|0.6433|0.705|0.5775|0.4157|0.6151|0.6819|0.6449|0.8907|0.6419|0.5253|0.6056|0.5865|0.709|0.9028|gnomADe_EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,A|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay||3/9|ENST00000477196.5:c.73-47A>T|||||||rs4562563||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||0.6266|0.3411|0.7277|0.8879|0.5944|0.7045|0.6674|0.4078|0.7836|0.6524|0.9028|0.6323|0.6053|0.6433|0.705|0.5775|0.4157|0.6151|0.6819|0.6449|0.8907|0.6419|0.5253|0.6056|0.5865|0.709|0.9028|gnomADe_EAS|||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,A|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000480643|protein_coding||||||||||rs4562563|79|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||4|||ENSP00000464657||J3QSF0.36|UPI0003F48015||||||||0.6266|0.3411|0.7277|0.8879|0.5944|0.7045|0.6674|0.4078|0.7836|0.6524|0.9028|0.6323|0.6053|0.6433|0.705|0.5775|0.4157|0.6151|0.6819|0.6449|0.8907|0.6419|0.5253|0.6056|0.5865|0.709|0.9028|gnomADe_EAS|||||||||||MALRHLALLAGLLV||,A|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||3/9|ENST00000482816.5:n.391+51A>T|||||||rs4562563||-1||SNV|HGNC|HGNC:26062||||5||||||||||||||0.6266|0.3411|0.7277|0.8879|0.5944|0.7045|0.6674|0.4078|0.7836|0.6524|0.9028|0.6323|0.6053|0.6433|0.705|0.5775|0.4157|0.6151|0.6819|0.6449|0.8907|0.6419|0.5253|0.6056|0.5865|0.709|0.9028|gnomADe_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000487177|retained_intron||||||||||rs4562563|3785|-1||SNV|HGNC|HGNC:26062||||2||||||||||||||0.6266|0.3411|0.7277|0.8879|0.5944|0.7045|0.6674|0.4078|0.7836|0.6524|0.9028|0.6323|0.6053|0.6433|0.705|0.5775|0.4157|0.6151|0.6819|0.6449|0.8907|0.6419|0.5253|0.6056|0.5865|0.709|0.9028|gnomADe_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1092440 . C T . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=3;GERMQ=44;MBQ=0,29;MFRL=0,0;MMQ=60,60;MPOS=72;POPAF=7.3;TLOD=8.7;SRC=custom;GRP=custom;CSQ=T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379319|protein_coding||1/9|ENST00000379319.5:c.-135-337G>A|||||||rs74048005||-1||SNV|HGNC|HGNC:26062||||5|P1|CCDS7.2|ENSP00000368623|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||0.0487|0.0257|0.0663|0.0456|0.0437|0.0757||||||||||0.05166|0.02422|0.01754|0.06502|0.05479|0.06406|0.1101|0.0981|0.05315|0.05646|0.08127|0.1101|gnomADg_FIN|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379320|protein_coding||||||||||rs74048005|266|-1||SNV|HGNC|HGNC:26062||||2||CCDS85917.1|ENSP00000368624||Q5T2W9.107|UPI0000205ACE||||||||0.0487|0.0257|0.0663|0.0456|0.0437|0.0757||||||||||0.05166|0.02422|0.01754|0.06502|0.05479|0.06406|0.1101|0.0981|0.05315|0.05646|0.08127|0.1101|gnomADg_FIN|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay||1/10|ENST00000379325.7:c.-135-337G>A|||||||rs74048005||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||0.0487|0.0257|0.0663|0.0456|0.0437|0.0757||||||||||0.05166|0.02422|0.01754|0.06502|0.05479|0.06406|0.1101|0.0981|0.05315|0.05646|0.08127|0.1101|gnomADg_FIN|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding||2/11|ENST00000379339.5:c.-135-337G>A|||||||rs74048005||-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||0.0487|0.0257|0.0663|0.0456|0.0437|0.0757||||||||||0.05166|0.02422|0.01754|0.06502|0.05479|0.06406|0.1101|0.0981|0.05315|0.05646|0.08127|0.1101|gnomADg_FIN|||||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding||1/9|ENST00000421241.7:c.-135-337G>A|||||||rs74048005||-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||0.0487|0.0257|0.0663|0.0456|0.0437|0.0757||||||||||0.05166|0.02422|0.01754|0.06502|0.05479|0.06406|0.1101|0.0981|0.05315|0.05646|0.08127|0.1101|gnomADg_FIN|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000427787|protein_coding||1/4|ENST00000427787.5:c.-136+126G>A|||||||rs74048005||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000395935||B2REC5.64|UPI000173DCFE||||||||0.0487|0.0257|0.0663|0.0456|0.0437|0.0757||||||||||0.05166|0.02422|0.01754|0.06502|0.05479|0.06406|0.1101|0.0981|0.05315|0.05646|0.08127|0.1101|gnomADg_FIN|||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLC||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||1/10|ENST00000434641.5:c.-135-337G>A|||||||rs74048005||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||0.0487|0.0257|0.0663|0.0456|0.0437|0.0757||||||||||0.05166|0.02422|0.01754|0.06502|0.05479|0.06406|0.1101|0.0981|0.05315|0.05646|0.08127|0.1101|gnomADg_FIN|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000442117|protein_coding||1/4|ENST00000442117.5:c.-136+126G>A|||||||rs74048005||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000416740||B2REC4.74|UPI000173DCFD||||||||0.0487|0.0257|0.0663|0.0456|0.0437|0.0757||||||||||0.05166|0.02422|0.01754|0.06502|0.05479|0.06406|0.1101|0.0981|0.05315|0.05646|0.08127|0.1101|gnomADg_FIN|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNA||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding||2/6|ENST00000462097.5:c.-135-337G>A|||||||rs74048005||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20||||||||0.0487|0.0257|0.0663|0.0456|0.0437|0.0757||||||||||0.05166|0.02422|0.01754|0.06502|0.05479|0.06406|0.1101|0.0981|0.05315|0.05646|0.08127|0.1101|gnomADg_FIN|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,T|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000465822|retained_intron||||||||||rs74048005|363|-1||SNV|HGNC|HGNC:26062||||2||||||||||||||0.0487|0.0257|0.0663|0.0456|0.0437|0.0757||||||||||0.05166|0.02422|0.01754|0.06502|0.05479|0.06406|0.1101|0.0981|0.05315|0.05646|0.08127|0.1101|gnomADg_FIN|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay||1/11|ENST00000467751.5:c.-135-337G>A|||||||rs74048005||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||0.0487|0.0257|0.0663|0.0456|0.0437|0.0757||||||||||0.05166|0.02422|0.01754|0.06502|0.05479|0.06406|0.1101|0.0981|0.05315|0.05646|0.08127|0.1101|gnomADg_FIN|||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,T|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000472741|retained_intron||1/2|ENST00000472741.5:n.29-337G>A|||||||rs74048005||-1||SNV|HGNC|HGNC:26062||||4||||||||||||||0.0487|0.0257|0.0663|0.0456|0.0437|0.0757||||||||||0.05166|0.02422|0.01754|0.06502|0.05479|0.06406|0.1101|0.0981|0.05315|0.05646|0.08127|0.1101|gnomADg_FIN|||||||||||||,T|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000473600|retained_intron||||||||||rs74048005|146|-1||SNV|HGNC|HGNC:26062||||3||||||||||||||0.0487|0.0257|0.0663|0.0456|0.0437|0.0757||||||||||0.05166|0.02422|0.01754|0.06502|0.05479|0.06406|0.1101|0.0981|0.05315|0.05646|0.08127|0.1101|gnomADg_FIN|||||||||||||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding||1/5|ENST00000475119.5:c.-179-337G>A|||||||rs74048005||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21||||||||0.0487|0.0257|0.0663|0.0456|0.0437|0.0757||||||||||0.05166|0.02422|0.01754|0.06502|0.05479|0.06406|0.1101|0.0981|0.05315|0.05646|0.08127|0.1101|gnomADg_FIN|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,T|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay||1/9|ENST00000477196.5:c.-135-337G>A|||||||rs74048005||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||0.0487|0.0257|0.0663|0.0456|0.0437|0.0757||||||||||0.05166|0.02422|0.01754|0.06502|0.05479|0.06406|0.1101|0.0981|0.05315|0.05646|0.08127|0.1101|gnomADg_FIN|||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000480643|protein_coding||4/5|ENST00000480643.1:c.-135-337G>A|||||||rs74048005||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||4|||ENSP00000464657||J3QSF0.36|UPI0003F48015||||||||0.0487|0.0257|0.0663|0.0456|0.0437|0.0757||||||||||0.05166|0.02422|0.01754|0.06502|0.05479|0.06406|0.1101|0.0981|0.05315|0.05646|0.08127|0.1101|gnomADg_FIN|||||||||||MALRHLALLAGLLV||,T|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||1/9|ENST00000482816.5:n.185-337G>A|||||||rs74048005||-1||SNV|HGNC|HGNC:26062||||5||||||||||||||0.0487|0.0257|0.0663|0.0456|0.0437|0.0757||||||||||0.05166|0.02422|0.01754|0.06502|0.05479|0.06406|0.1101|0.0981|0.05315|0.05646|0.08127|0.1101|gnomADg_FIN|||||||||||||,T|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000487177|retained_intron||||||||||rs74048005|4804|-1||SNV|HGNC|HGNC:26062||||2||||||||||||||0.0487|0.0257|0.0663|0.0456|0.0437|0.0757||||||||||0.05166|0.02422|0.01754|0.06502|0.05479|0.06406|0.1101|0.0981|0.05315|0.05646|0.08127|0.1101|gnomADg_FIN||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,0:0,1:0,1:0|1:1092440_C_T:1092440:0,0,1,0 -chr1 1092548 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=3;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=45;POPAF=7.3;TLOD=3.48;SRC=custom;GRP=custom;CSQ=A|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379319|protein_coding||1/9|ENST00000379319.5:c.-135-445C>T|||||||rs1645956643||-1||SNV|HGNC|HGNC:26062||||5|P1|CCDS7.2|ENSP00000368623|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4||||||||||||||||||||||6.567e-06|0|0|0|0|0.0001922|0|0|0|0|0|0.0001922|gnomADg_EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,A|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379320|protein_coding||||||||||rs1645956643|374|-1||SNV|HGNC|HGNC:26062||||2||CCDS85917.1|ENSP00000368624||Q5T2W9.107|UPI0000205ACE|||||||||||||||||||||||6.567e-06|0|0|0|0|0.0001922|0|0|0|0|0|0.0001922|gnomADg_EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,A|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay||1/10|ENST00000379325.7:c.-135-445C>T|||||||rs1645956643||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3||||||||||||||||||||||6.567e-06|0|0|0|0|0.0001922|0|0|0|0|0|0.0001922|gnomADg_EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,A|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding||2/11|ENST00000379339.5:c.-135-445C>T|||||||rs1645956643||-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1||||||||||||||||||||||6.567e-06|0|0|0|0|0.0001922|0|0|0|0|0|0.0001922|gnomADg_EAS|||||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,A|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding||1/9|ENST00000421241.7:c.-135-445C>T|||||||rs1645956643||-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4||||||||||||||||||||||6.567e-06|0|0|0|0|0.0001922|0|0|0|0|0|0.0001922|gnomADg_EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,A|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000427787|protein_coding||1/4|ENST00000427787.5:c.-136+18C>T|||||||rs1645956643||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000395935||B2REC5.64|UPI000173DCFE|||||||||||||||||||||||6.567e-06|0|0|0|0|0.0001922|0|0|0|0|0|0.0001922|gnomADg_EAS|||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLC||,A|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||1/10|ENST00000434641.5:c.-135-445C>T|||||||rs1645956643||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17|||||||||||||||||||||||6.567e-06|0|0|0|0|0.0001922|0|0|0|0|0|0.0001922|gnomADg_EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,A|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000442117|protein_coding||1/4|ENST00000442117.5:c.-136+18C>T|||||||rs1645956643||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000416740||B2REC4.74|UPI000173DCFD|||||||||||||||||||||||6.567e-06|0|0|0|0|0.0001922|0|0|0|0|0|0.0001922|gnomADg_EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNA||,A|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding||2/6|ENST00000462097.5:c.-135-445C>T|||||||rs1645956643||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20|||||||||||||||||||||||6.567e-06|0|0|0|0|0.0001922|0|0|0|0|0|0.0001922|gnomADg_EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,A|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000465822|retained_intron||||||||||rs1645956643|471|-1||SNV|HGNC|HGNC:26062||||2|||||||||||||||||||||||||||||6.567e-06|0|0|0|0|0.0001922|0|0|0|0|0|0.0001922|gnomADg_EAS|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay||1/11|ENST00000467751.5:c.-135-445C>T|||||||rs1645956643||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB|||||||||||||||||||||||6.567e-06|0|0|0|0|0.0001922|0|0|0|0|0|0.0001922|gnomADg_EAS|||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,A|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000472741|retained_intron||1/2|ENST00000472741.5:n.29-445C>T|||||||rs1645956643||-1||SNV|HGNC|HGNC:26062||||4|||||||||||||||||||||||||||||6.567e-06|0|0|0|0|0.0001922|0|0|0|0|0|0.0001922|gnomADg_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000473600|retained_intron||||||||||rs1645956643|254|-1||SNV|HGNC|HGNC:26062||||3|||||||||||||||||||||||||||||6.567e-06|0|0|0|0|0.0001922|0|0|0|0|0|0.0001922|gnomADg_EAS|||||||||||||,A|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding||1/5|ENST00000475119.5:c.-179-445C>T|||||||rs1645956643||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21|||||||||||||||||||||||6.567e-06|0|0|0|0|0.0001922|0|0|0|0|0|0.0001922|gnomADg_EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,A|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay||1/9|ENST00000477196.5:c.-135-445C>T|||||||rs1645956643||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028|||||||||||||||||||||||6.567e-06|0|0|0|0|0.0001922|0|0|0|0|0|0.0001922|gnomADg_EAS|||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,A|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000480643|protein_coding||4/5|ENST00000480643.1:c.-135-445C>T|||||||rs1645956643||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||4|||ENSP00000464657||J3QSF0.36|UPI0003F48015|||||||||||||||||||||||6.567e-06|0|0|0|0|0.0001922|0|0|0|0|0|0.0001922|gnomADg_EAS|||||||||||MALRHLALLAGLLV||,A|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||1/9|ENST00000482816.5:n.185-445C>T|||||||rs1645956643||-1||SNV|HGNC|HGNC:26062||||5|||||||||||||||||||||||||||||6.567e-06|0|0|0|0|0.0001922|0|0|0|0|0|0.0001922|gnomADg_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000487177|retained_intron||||||||||rs1645956643|4912|-1||SNV|HGNC|HGNC:26062||||2|||||||||||||||||||||||||||||6.567e-06|0|0|0|0|0.0001922|0|0|0|0|0|0.0001922|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,0:0,1:0,0,0,1 -chr1 1094128 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C1|1%2C1;DP=5;ECNT=2;GERMQ=38;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=133;POPAF=7.3;TLOD=6.47;SRC=custom;GRP=custom;CSQ=T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379319|protein_coding||1/9|ENST00000379319.5:c.-135-2025G>A|||||||rs1645978692||-1||SNV|HGNC|HGNC:26062||||5|P1|CCDS7.2|ENSP00000368623|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4||||||||||||||||||||||3.972e-05|0|0|0|0|0|0|0|0|0|0.001255|0.001255|gnomADg_SAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379320|protein_coding||||||||||rs1645978692|1954|-1||SNV|HGNC|HGNC:26062||||2||CCDS85917.1|ENSP00000368624||Q5T2W9.107|UPI0000205ACE|||||||||||||||||||||||3.972e-05|0|0|0|0|0|0|0|0|0|0.001255|0.001255|gnomADg_SAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay||1/10|ENST00000379325.7:c.-135-2025G>A|||||||rs1645978692||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3||||||||||||||||||||||3.972e-05|0|0|0|0|0|0|0|0|0|0.001255|0.001255|gnomADg_SAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding||2/11|ENST00000379339.5:c.-135-2025G>A|||||||rs1645978692||-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1||||||||||||||||||||||3.972e-05|0|0|0|0|0|0|0|0|0|0.001255|0.001255|gnomADg_SAS|||||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding||1/9|ENST00000421241.7:c.-135-2025G>A|||||||rs1645978692||-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4||||||||||||||||||||||3.972e-05|0|0|0|0|0|0|0|0|0|0.001255|0.001255|gnomADg_SAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000427787|protein_coding||||||||||rs1645978692|1315|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000395935||B2REC5.64|UPI000173DCFE|||||||||||||||||||||||3.972e-05|0|0|0|0|0|0|0|0|0|0.001255|0.001255|gnomADg_SAS|||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLC||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||1/10|ENST00000434641.5:c.-135-2025G>A|||||||rs1645978692||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17|||||||||||||||||||||||3.972e-05|0|0|0|0|0|0|0|0|0|0.001255|0.001255|gnomADg_SAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,T|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000442117|protein_coding||||||||||rs1645978692|1315|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000416740||B2REC4.74|UPI000173DCFD|||||||||||||||||||||||3.972e-05|0|0|0|0|0|0|0|0|0|0.001255|0.001255|gnomADg_SAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNA||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding||2/6|ENST00000462097.5:c.-135-2025G>A|||||||rs1645978692||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20|||||||||||||||||||||||3.972e-05|0|0|0|0|0|0|0|0|0|0.001255|0.001255|gnomADg_SAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,T|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000465822|retained_intron||||||||||rs1645978692|2051|-1||SNV|HGNC|HGNC:26062||||2|||||||||||||||||||||||||||||3.972e-05|0|0|0|0|0|0|0|0|0|0.001255|0.001255|gnomADg_SAS|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay||1/11|ENST00000467751.5:c.-135-2025G>A|||||||rs1645978692||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB|||||||||||||||||||||||3.972e-05|0|0|0|0|0|0|0|0|0|0.001255|0.001255|gnomADg_SAS|||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,T|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000472741|retained_intron||1/2|ENST00000472741.5:n.29-2025G>A|||||||rs1645978692||-1||SNV|HGNC|HGNC:26062||||4|||||||||||||||||||||||||||||3.972e-05|0|0|0|0|0|0|0|0|0|0.001255|0.001255|gnomADg_SAS|||||||||||||,T|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000473600|retained_intron||||||||||rs1645978692|1834|-1||SNV|HGNC|HGNC:26062||||3|||||||||||||||||||||||||||||3.972e-05|0|0|0|0|0|0|0|0|0|0.001255|0.001255|gnomADg_SAS|||||||||||||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding||1/5|ENST00000475119.5:c.-179-2025G>A|||||||rs1645978692||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21|||||||||||||||||||||||3.972e-05|0|0|0|0|0|0|0|0|0|0.001255|0.001255|gnomADg_SAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,T|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay||1/9|ENST00000477196.5:c.-135-2025G>A|||||||rs1645978692||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028|||||||||||||||||||||||3.972e-05|0|0|0|0|0|0|0|0|0|0.001255|0.001255|gnomADg_SAS|||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000480643|protein_coding||4/5|ENST00000480643.1:c.-135-2025G>A|||||||rs1645978692||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||4|||ENSP00000464657||J3QSF0.36|UPI0003F48015|||||||||||||||||||||||3.972e-05|0|0|0|0|0|0|0|0|0|0.001255|0.001255|gnomADg_SAS|||||||||||MALRHLALLAGLLV||,T|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||1/9|ENST00000482816.5:n.185-2025G>A|||||||rs1645978692||-1||SNV|HGNC|HGNC:26062||||5|||||||||||||||||||||||||||||3.972e-05|0|0|0|0|0|0|0|0|0|0.001255|0.001255|gnomADg_SAS|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000285812|Transcript|ENST00000648183|lncRNA||||||||||rs1645978692|3457|1||SNV|||YES||||||||||||||||||||||||||||||||3.972e-05|0|0|0|0|0|0|0|0|0|0.001255|0.001255|gnomADg_SAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,2:0.4:5:0,0:2,1:2,1:2,1,1,1 -chr1 1094198 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C2;DP=5;ECNT=1;GERMQ=55;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=100;POPAF=7.3;TLOD=17.48;SRC=custom;GRP=custom;CSQ=T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379319|protein_coding||1/9|ENST00000379319.5:c.-135-2095G>A|||||||rs979730694||-1||SNV|HGNC|HGNC:26062||||5|P1|CCDS7.2|ENSP00000368623|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4||||||||||||||||||||||1.322e-05|2.436e-05|0|0|0|0|0|0|1.473e-05|0|0|2.436e-05|gnomADg_AFR|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379320|protein_coding||||||||||rs979730694|2024|-1||SNV|HGNC|HGNC:26062||||2||CCDS85917.1|ENSP00000368624||Q5T2W9.107|UPI0000205ACE|||||||||||||||||||||||1.322e-05|2.436e-05|0|0|0|0|0|0|1.473e-05|0|0|2.436e-05|gnomADg_AFR|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay||1/10|ENST00000379325.7:c.-135-2095G>A|||||||rs979730694||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3||||||||||||||||||||||1.322e-05|2.436e-05|0|0|0|0|0|0|1.473e-05|0|0|2.436e-05|gnomADg_AFR|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding||2/11|ENST00000379339.5:c.-135-2095G>A|||||||rs979730694||-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1||||||||||||||||||||||1.322e-05|2.436e-05|0|0|0|0|0|0|1.473e-05|0|0|2.436e-05|gnomADg_AFR|||||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding||1/9|ENST00000421241.7:c.-135-2095G>A|||||||rs979730694||-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4||||||||||||||||||||||1.322e-05|2.436e-05|0|0|0|0|0|0|1.473e-05|0|0|2.436e-05|gnomADg_AFR|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000427787|protein_coding||||||||||rs979730694|1385|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000395935||B2REC5.64|UPI000173DCFE|||||||||||||||||||||||1.322e-05|2.436e-05|0|0|0|0|0|0|1.473e-05|0|0|2.436e-05|gnomADg_AFR|||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLC||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||1/10|ENST00000434641.5:c.-135-2095G>A|||||||rs979730694||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17|||||||||||||||||||||||1.322e-05|2.436e-05|0|0|0|0|0|0|1.473e-05|0|0|2.436e-05|gnomADg_AFR|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,T|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000442117|protein_coding||||||||||rs979730694|1385|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000416740||B2REC4.74|UPI000173DCFD|||||||||||||||||||||||1.322e-05|2.436e-05|0|0|0|0|0|0|1.473e-05|0|0|2.436e-05|gnomADg_AFR|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNA||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding||2/6|ENST00000462097.5:c.-135-2095G>A|||||||rs979730694||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20|||||||||||||||||||||||1.322e-05|2.436e-05|0|0|0|0|0|0|1.473e-05|0|0|2.436e-05|gnomADg_AFR|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,T|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000465822|retained_intron||||||||||rs979730694|2121|-1||SNV|HGNC|HGNC:26062||||2|||||||||||||||||||||||||||||1.322e-05|2.436e-05|0|0|0|0|0|0|1.473e-05|0|0|2.436e-05|gnomADg_AFR|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay||1/11|ENST00000467751.5:c.-135-2095G>A|||||||rs979730694||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB|||||||||||||||||||||||1.322e-05|2.436e-05|0|0|0|0|0|0|1.473e-05|0|0|2.436e-05|gnomADg_AFR|||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,T|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000472741|retained_intron||1/2|ENST00000472741.5:n.29-2095G>A|||||||rs979730694||-1||SNV|HGNC|HGNC:26062||||4|||||||||||||||||||||||||||||1.322e-05|2.436e-05|0|0|0|0|0|0|1.473e-05|0|0|2.436e-05|gnomADg_AFR|||||||||||||,T|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000473600|retained_intron||||||||||rs979730694|1904|-1||SNV|HGNC|HGNC:26062||||3|||||||||||||||||||||||||||||1.322e-05|2.436e-05|0|0|0|0|0|0|1.473e-05|0|0|2.436e-05|gnomADg_AFR|||||||||||||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding||1/5|ENST00000475119.5:c.-179-2095G>A|||||||rs979730694||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21|||||||||||||||||||||||1.322e-05|2.436e-05|0|0|0|0|0|0|1.473e-05|0|0|2.436e-05|gnomADg_AFR|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,T|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay||1/9|ENST00000477196.5:c.-135-2095G>A|||||||rs979730694||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028|||||||||||||||||||||||1.322e-05|2.436e-05|0|0|0|0|0|0|1.473e-05|0|0|2.436e-05|gnomADg_AFR|||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000480643|protein_coding||4/5|ENST00000480643.1:c.-135-2095G>A|||||||rs979730694||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||4|||ENSP00000464657||J3QSF0.36|UPI0003F48015|||||||||||||||||||||||1.322e-05|2.436e-05|0|0|0|0|0|0|1.473e-05|0|0|2.436e-05|gnomADg_AFR|||||||||||MALRHLALLAGLLV||,T|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||1/9|ENST00000482816.5:n.185-2095G>A|||||||rs979730694||-1||SNV|HGNC|HGNC:26062||||5|||||||||||||||||||||||||||||1.322e-05|2.436e-05|0|0|0|0|0|0|1.473e-05|0|0|2.436e-05|gnomADg_AFR|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000285812|Transcript|ENST00000648183|lncRNA||||||||||rs979730694|3387|1||SNV|||YES||||||||||||||||||||||||||||||||1.322e-05|2.436e-05|0|0|0|0|0|0|1.473e-05|0|0|2.436e-05|gnomADg_AFR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.8:5:0,0:0,3:0,3:0,0,3,2 -chr1 1094198 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|2%2C2;DP=6;ECNT=2;GERMQ=37;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=63;POPAF=7.3;TLOD=13.63;SRC=custom;GRP=custom;CSQ=T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379319|protein_coding||1/9|ENST00000379319.5:c.-135-2095G>A|||||||rs979730694||-1||SNV|HGNC|HGNC:26062||||5|P1|CCDS7.2|ENSP00000368623|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4||||||||||||||||||||||1.322e-05|2.436e-05|0|0|0|0|0|0|1.473e-05|0|0|2.436e-05|gnomADg_AFR|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379320|protein_coding||||||||||rs979730694|2024|-1||SNV|HGNC|HGNC:26062||||2||CCDS85917.1|ENSP00000368624||Q5T2W9.107|UPI0000205ACE|||||||||||||||||||||||1.322e-05|2.436e-05|0|0|0|0|0|0|1.473e-05|0|0|2.436e-05|gnomADg_AFR|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay||1/10|ENST00000379325.7:c.-135-2095G>A|||||||rs979730694||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3||||||||||||||||||||||1.322e-05|2.436e-05|0|0|0|0|0|0|1.473e-05|0|0|2.436e-05|gnomADg_AFR|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding||2/11|ENST00000379339.5:c.-135-2095G>A|||||||rs979730694||-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1||||||||||||||||||||||1.322e-05|2.436e-05|0|0|0|0|0|0|1.473e-05|0|0|2.436e-05|gnomADg_AFR|||||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding||1/9|ENST00000421241.7:c.-135-2095G>A|||||||rs979730694||-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4||||||||||||||||||||||1.322e-05|2.436e-05|0|0|0|0|0|0|1.473e-05|0|0|2.436e-05|gnomADg_AFR|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000427787|protein_coding||||||||||rs979730694|1385|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000395935||B2REC5.64|UPI000173DCFE|||||||||||||||||||||||1.322e-05|2.436e-05|0|0|0|0|0|0|1.473e-05|0|0|2.436e-05|gnomADg_AFR|||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLC||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||1/10|ENST00000434641.5:c.-135-2095G>A|||||||rs979730694||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17|||||||||||||||||||||||1.322e-05|2.436e-05|0|0|0|0|0|0|1.473e-05|0|0|2.436e-05|gnomADg_AFR|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,T|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000442117|protein_coding||||||||||rs979730694|1385|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000416740||B2REC4.74|UPI000173DCFD|||||||||||||||||||||||1.322e-05|2.436e-05|0|0|0|0|0|0|1.473e-05|0|0|2.436e-05|gnomADg_AFR|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNA||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding||2/6|ENST00000462097.5:c.-135-2095G>A|||||||rs979730694||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20|||||||||||||||||||||||1.322e-05|2.436e-05|0|0|0|0|0|0|1.473e-05|0|0|2.436e-05|gnomADg_AFR|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,T|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000465822|retained_intron||||||||||rs979730694|2121|-1||SNV|HGNC|HGNC:26062||||2|||||||||||||||||||||||||||||1.322e-05|2.436e-05|0|0|0|0|0|0|1.473e-05|0|0|2.436e-05|gnomADg_AFR|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay||1/11|ENST00000467751.5:c.-135-2095G>A|||||||rs979730694||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB|||||||||||||||||||||||1.322e-05|2.436e-05|0|0|0|0|0|0|1.473e-05|0|0|2.436e-05|gnomADg_AFR|||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,T|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000472741|retained_intron||1/2|ENST00000472741.5:n.29-2095G>A|||||||rs979730694||-1||SNV|HGNC|HGNC:26062||||4|||||||||||||||||||||||||||||1.322e-05|2.436e-05|0|0|0|0|0|0|1.473e-05|0|0|2.436e-05|gnomADg_AFR|||||||||||||,T|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000473600|retained_intron||||||||||rs979730694|1904|-1||SNV|HGNC|HGNC:26062||||3|||||||||||||||||||||||||||||1.322e-05|2.436e-05|0|0|0|0|0|0|1.473e-05|0|0|2.436e-05|gnomADg_AFR|||||||||||||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding||1/5|ENST00000475119.5:c.-179-2095G>A|||||||rs979730694||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21|||||||||||||||||||||||1.322e-05|2.436e-05|0|0|0|0|0|0|1.473e-05|0|0|2.436e-05|gnomADg_AFR|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,T|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay||1/9|ENST00000477196.5:c.-135-2095G>A|||||||rs979730694||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028|||||||||||||||||||||||1.322e-05|2.436e-05|0|0|0|0|0|0|1.473e-05|0|0|2.436e-05|gnomADg_AFR|||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000480643|protein_coding||4/5|ENST00000480643.1:c.-135-2095G>A|||||||rs979730694||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||4|||ENSP00000464657||J3QSF0.36|UPI0003F48015|||||||||||||||||||||||1.322e-05|2.436e-05|0|0|0|0|0|0|1.473e-05|0|0|2.436e-05|gnomADg_AFR|||||||||||MALRHLALLAGLLV||,T|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||1/9|ENST00000482816.5:n.185-2095G>A|||||||rs979730694||-1||SNV|HGNC|HGNC:26062||||5|||||||||||||||||||||||||||||1.322e-05|2.436e-05|0|0|0|0|0|0|1.473e-05|0|0|2.436e-05|gnomADg_AFR|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000285812|Transcript|ENST00000648183|lncRNA||||||||||rs979730694|3387|1||SNV|||YES||||||||||||||||||||||||||||||||1.322e-05|2.436e-05|0|0|0|0|0|0|1.473e-05|0|0|2.436e-05|gnomADg_AFR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,4:0.6:6:0,0:1,2:1,2:1,1,2,2 -chr1 1095185 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4%2C3|1%2C1;DP=9;ECNT=2;GERMQ=43;MBQ=31,32;MFRL=0,0;MMQ=60,60;MPOS=9;POPAF=7.3;TLOD=5.78;SRC=custom;GRP=custom;CSQ=T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379319|protein_coding||1/9|ENST00000379319.5:c.-135-3082G>A|||||||rs6687776||-1||SNV|HGNC|HGNC:26062||||5|P1|CCDS7.2|ENSP00000368623|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||0.3067|0.6036|0.1859|0.1875|0.166|0.2587||||||||||0.2694|0.5059|0.1264|0.2092|0.2021|0.1878|0.2188|0.2278|0.1618|0.2596|0.2338|0.6036|AFR||||20964851|||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379320|protein_coding||||||||||rs6687776|3011|-1||SNV|HGNC|HGNC:26062||||2||CCDS85917.1|ENSP00000368624||Q5T2W9.107|UPI0000205ACE||||||||0.3067|0.6036|0.1859|0.1875|0.166|0.2587||||||||||0.2694|0.5059|0.1264|0.2092|0.2021|0.1878|0.2188|0.2278|0.1618|0.2596|0.2338|0.6036|AFR||||20964851|||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay||1/10|ENST00000379325.7:c.-135-3082G>A|||||||rs6687776||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||0.3067|0.6036|0.1859|0.1875|0.166|0.2587||||||||||0.2694|0.5059|0.1264|0.2092|0.2021|0.1878|0.2188|0.2278|0.1618|0.2596|0.2338|0.6036|AFR||||20964851|||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding||2/11|ENST00000379339.5:c.-135-3082G>A|||||||rs6687776||-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||0.3067|0.6036|0.1859|0.1875|0.166|0.2587||||||||||0.2694|0.5059|0.1264|0.2092|0.2021|0.1878|0.2188|0.2278|0.1618|0.2596|0.2338|0.6036|AFR||||20964851|||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding||1/9|ENST00000421241.7:c.-135-3082G>A|||||||rs6687776||-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||0.3067|0.6036|0.1859|0.1875|0.166|0.2587||||||||||0.2694|0.5059|0.1264|0.2092|0.2021|0.1878|0.2188|0.2278|0.1618|0.2596|0.2338|0.6036|AFR||||20964851|||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000427787|protein_coding||||||||||rs6687776|2372|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000395935||B2REC5.64|UPI000173DCFE||||||||0.3067|0.6036|0.1859|0.1875|0.166|0.2587||||||||||0.2694|0.5059|0.1264|0.2092|0.2021|0.1878|0.2188|0.2278|0.1618|0.2596|0.2338|0.6036|AFR||||20964851|||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLC||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||1/10|ENST00000434641.5:c.-135-3082G>A|||||||rs6687776||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||0.3067|0.6036|0.1859|0.1875|0.166|0.2587||||||||||0.2694|0.5059|0.1264|0.2092|0.2021|0.1878|0.2188|0.2278|0.1618|0.2596|0.2338|0.6036|AFR||||20964851|||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,T|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000442117|protein_coding||||||||||rs6687776|2372|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000416740||B2REC4.74|UPI000173DCFD||||||||0.3067|0.6036|0.1859|0.1875|0.166|0.2587||||||||||0.2694|0.5059|0.1264|0.2092|0.2021|0.1878|0.2188|0.2278|0.1618|0.2596|0.2338|0.6036|AFR||||20964851|||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNA||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding||2/6|ENST00000462097.5:c.-135-3082G>A|||||||rs6687776||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20||||||||0.3067|0.6036|0.1859|0.1875|0.166|0.2587||||||||||0.2694|0.5059|0.1264|0.2092|0.2021|0.1878|0.2188|0.2278|0.1618|0.2596|0.2338|0.6036|AFR||||20964851|||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,T|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000465822|retained_intron||||||||||rs6687776|3108|-1||SNV|HGNC|HGNC:26062||||2||||||||||||||0.3067|0.6036|0.1859|0.1875|0.166|0.2587||||||||||0.2694|0.5059|0.1264|0.2092|0.2021|0.1878|0.2188|0.2278|0.1618|0.2596|0.2338|0.6036|AFR||||20964851|||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay||1/11|ENST00000467751.5:c.-135-3082G>A|||||||rs6687776||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||0.3067|0.6036|0.1859|0.1875|0.166|0.2587||||||||||0.2694|0.5059|0.1264|0.2092|0.2021|0.1878|0.2188|0.2278|0.1618|0.2596|0.2338|0.6036|AFR||||20964851|||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,T|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000472741|retained_intron||1/2|ENST00000472741.5:n.29-3082G>A|||||||rs6687776||-1||SNV|HGNC|HGNC:26062||||4||||||||||||||0.3067|0.6036|0.1859|0.1875|0.166|0.2587||||||||||0.2694|0.5059|0.1264|0.2092|0.2021|0.1878|0.2188|0.2278|0.1618|0.2596|0.2338|0.6036|AFR||||20964851|||||||||,T|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000473600|retained_intron||||||||||rs6687776|2891|-1||SNV|HGNC|HGNC:26062||||3||||||||||||||0.3067|0.6036|0.1859|0.1875|0.166|0.2587||||||||||0.2694|0.5059|0.1264|0.2092|0.2021|0.1878|0.2188|0.2278|0.1618|0.2596|0.2338|0.6036|AFR||||20964851|||||||||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding||1/5|ENST00000475119.5:c.-179-3082G>A|||||||rs6687776||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21||||||||0.3067|0.6036|0.1859|0.1875|0.166|0.2587||||||||||0.2694|0.5059|0.1264|0.2092|0.2021|0.1878|0.2188|0.2278|0.1618|0.2596|0.2338|0.6036|AFR||||20964851|||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,T|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay||1/9|ENST00000477196.5:c.-135-3082G>A|||||||rs6687776||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||0.3067|0.6036|0.1859|0.1875|0.166|0.2587||||||||||0.2694|0.5059|0.1264|0.2092|0.2021|0.1878|0.2188|0.2278|0.1618|0.2596|0.2338|0.6036|AFR||||20964851|||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000480643|protein_coding||4/5|ENST00000480643.1:c.-135-3082G>A|||||||rs6687776||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||4|||ENSP00000464657||J3QSF0.36|UPI0003F48015||||||||0.3067|0.6036|0.1859|0.1875|0.166|0.2587||||||||||0.2694|0.5059|0.1264|0.2092|0.2021|0.1878|0.2188|0.2278|0.1618|0.2596|0.2338|0.6036|AFR||||20964851|||||||MALRHLALLAGLLV||,T|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||1/9|ENST00000482816.5:n.185-3082G>A|||||||rs6687776||-1||SNV|HGNC|HGNC:26062||||5||||||||||||||0.3067|0.6036|0.1859|0.1875|0.166|0.2587||||||||||0.2694|0.5059|0.1264|0.2092|0.2021|0.1878|0.2188|0.2278|0.1618|0.2596|0.2338|0.6036|AFR||||20964851|||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000285812|Transcript|ENST00000648183|lncRNA||||||||||rs6687776|2400|1||SNV|||YES|||||||||||||||||0.3067|0.6036|0.1859|0.1875|0.166|0.2587||||||||||0.2694|0.5059|0.1264|0.2092|0.2021|0.1878|0.2188|0.2278|0.1618|0.2596|0.2338|0.6036|AFR||||20964851||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,2:0.286:9:0,0:4,1:4,1:4,3,1,1 -chr1 1096160 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C2;DP=6;ECNT=1;GERMQ=58;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=60;POPAF=7.3;TLOD=22.56;SRC=custom;GRP=custom;CSQ=G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379319|protein_coding||1/9|ENST00000379319.5:c.-135-4057T>C|||||||rs9651273||-1||SNV|HGNC|HGNC:26062||||5|P1|CCDS7.2|ENSP00000368623|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||0.8820|0.9478|0.8602|0.9881|0.7276|0.8579||||||||||0.8116|0.9332|0.7336|0.8436|0.7969|0.9786|0.7569|0.693|0.7263|0.8045|0.8468|0.9881|EAS||||20964851&19176549|||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,G|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379320|protein_coding||||||||||rs9651273|3986|-1||SNV|HGNC|HGNC:26062||||2||CCDS85917.1|ENSP00000368624||Q5T2W9.107|UPI0000205ACE||||||||0.8820|0.9478|0.8602|0.9881|0.7276|0.8579||||||||||0.8116|0.9332|0.7336|0.8436|0.7969|0.9786|0.7569|0.693|0.7263|0.8045|0.8468|0.9881|EAS||||20964851&19176549|||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,G|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay||1/10|ENST00000379325.7:c.-135-4057T>C|||||||rs9651273||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||0.8820|0.9478|0.8602|0.9881|0.7276|0.8579||||||||||0.8116|0.9332|0.7336|0.8436|0.7969|0.9786|0.7569|0.693|0.7263|0.8045|0.8468|0.9881|EAS||||20964851&19176549|||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding||2/11|ENST00000379339.5:c.-135-4057T>C|||||||rs9651273||-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||0.8820|0.9478|0.8602|0.9881|0.7276|0.8579||||||||||0.8116|0.9332|0.7336|0.8436|0.7969|0.9786|0.7569|0.693|0.7263|0.8045|0.8468|0.9881|EAS||||20964851&19176549|||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding||1/9|ENST00000421241.7:c.-135-4057T>C|||||||rs9651273||-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||0.8820|0.9478|0.8602|0.9881|0.7276|0.8579||||||||||0.8116|0.9332|0.7336|0.8436|0.7969|0.9786|0.7569|0.693|0.7263|0.8045|0.8468|0.9881|EAS||||20964851&19176549|||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,G|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000427787|protein_coding||||||||||rs9651273|3347|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000395935||B2REC5.64|UPI000173DCFE||||||||0.8820|0.9478|0.8602|0.9881|0.7276|0.8579||||||||||0.8116|0.9332|0.7336|0.8436|0.7969|0.9786|0.7569|0.693|0.7263|0.8045|0.8468|0.9881|EAS||||20964851&19176549|||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLC||,G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||1/10|ENST00000434641.5:c.-135-4057T>C|||||||rs9651273||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||0.8820|0.9478|0.8602|0.9881|0.7276|0.8579||||||||||0.8116|0.9332|0.7336|0.8436|0.7969|0.9786|0.7569|0.693|0.7263|0.8045|0.8468|0.9881|EAS||||20964851&19176549|||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,G|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000442117|protein_coding||||||||||rs9651273|3347|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000416740||B2REC4.74|UPI000173DCFD||||||||0.8820|0.9478|0.8602|0.9881|0.7276|0.8579||||||||||0.8116|0.9332|0.7336|0.8436|0.7969|0.9786|0.7569|0.693|0.7263|0.8045|0.8468|0.9881|EAS||||20964851&19176549|||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNA||,G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding||2/6|ENST00000462097.5:c.-135-4057T>C|||||||rs9651273||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20||||||||0.8820|0.9478|0.8602|0.9881|0.7276|0.8579||||||||||0.8116|0.9332|0.7336|0.8436|0.7969|0.9786|0.7569|0.693|0.7263|0.8045|0.8468|0.9881|EAS||||20964851&19176549|||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,G|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000465822|retained_intron||||||||||rs9651273|4083|-1||SNV|HGNC|HGNC:26062||||2||||||||||||||0.8820|0.9478|0.8602|0.9881|0.7276|0.8579||||||||||0.8116|0.9332|0.7336|0.8436|0.7969|0.9786|0.7569|0.693|0.7263|0.8045|0.8468|0.9881|EAS||||20964851&19176549|||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay||1/11|ENST00000467751.5:c.-135-4057T>C|||||||rs9651273||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||0.8820|0.9478|0.8602|0.9881|0.7276|0.8579||||||||||0.8116|0.9332|0.7336|0.8436|0.7969|0.9786|0.7569|0.693|0.7263|0.8045|0.8468|0.9881|EAS||||20964851&19176549|||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,G|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000472741|retained_intron||1/2|ENST00000472741.5:n.29-4057T>C|||||||rs9651273||-1||SNV|HGNC|HGNC:26062||||4||||||||||||||0.8820|0.9478|0.8602|0.9881|0.7276|0.8579||||||||||0.8116|0.9332|0.7336|0.8436|0.7969|0.9786|0.7569|0.693|0.7263|0.8045|0.8468|0.9881|EAS||||20964851&19176549|||||||||,G|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000473600|retained_intron||||||||||rs9651273|3866|-1||SNV|HGNC|HGNC:26062||||3||||||||||||||0.8820|0.9478|0.8602|0.9881|0.7276|0.8579||||||||||0.8116|0.9332|0.7336|0.8436|0.7969|0.9786|0.7569|0.693|0.7263|0.8045|0.8468|0.9881|EAS||||20964851&19176549|||||||||,G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding||1/5|ENST00000475119.5:c.-179-4057T>C|||||||rs9651273||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21||||||||0.8820|0.9478|0.8602|0.9881|0.7276|0.8579||||||||||0.8116|0.9332|0.7336|0.8436|0.7969|0.9786|0.7569|0.693|0.7263|0.8045|0.8468|0.9881|EAS||||20964851&19176549|||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,G|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay||1/9|ENST00000477196.5:c.-135-4057T>C|||||||rs9651273||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||0.8820|0.9478|0.8602|0.9881|0.7276|0.8579||||||||||0.8116|0.9332|0.7336|0.8436|0.7969|0.9786|0.7569|0.693|0.7263|0.8045|0.8468|0.9881|EAS||||20964851&19176549|||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000480643|protein_coding||4/5|ENST00000480643.1:c.-135-4057T>C|||||||rs9651273||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||4|||ENSP00000464657||J3QSF0.36|UPI0003F48015||||||||0.8820|0.9478|0.8602|0.9881|0.7276|0.8579||||||||||0.8116|0.9332|0.7336|0.8436|0.7969|0.9786|0.7569|0.693|0.7263|0.8045|0.8468|0.9881|EAS||||20964851&19176549|||||||MALRHLALLAGLLV||,G|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||1/9|ENST00000482816.5:n.185-4057T>C|||||||rs9651273||-1||SNV|HGNC|HGNC:26062||||5||||||||||||||0.8820|0.9478|0.8602|0.9881|0.7276|0.8579||||||||||0.8116|0.9332|0.7336|0.8436|0.7969|0.9786|0.7569|0.693|0.7263|0.8045|0.8468|0.9881|EAS||||20964851&19176549|||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000285812|Transcript|ENST00000648183|lncRNA||||||||||rs9651273|1425|1||SNV|||YES|||||||||||||||||0.8820|0.9478|0.8602|0.9881|0.7276|0.8579||||||||||0.8116|0.9332|0.7336|0.8436|0.7969|0.9786|0.7569|0.693|0.7263|0.8045|0.8468|0.9881|EAS||||20964851&19176549||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.833:6:0,0:0,4:0,4:0,0,4,2 -chr1 1096160 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=2;GERMQ=52;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=100;POPAF=7.3;TLOD=14.73;SRC=custom;GRP=custom;CSQ=G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379319|protein_coding||1/9|ENST00000379319.5:c.-135-4057T>C|||||||rs9651273||-1||SNV|HGNC|HGNC:26062||||5|P1|CCDS7.2|ENSP00000368623|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||0.8820|0.9478|0.8602|0.9881|0.7276|0.8579||||||||||0.8116|0.9332|0.7336|0.8436|0.7969|0.9786|0.7569|0.693|0.7263|0.8045|0.8468|0.9881|EAS||||20964851&19176549|||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,G|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379320|protein_coding||||||||||rs9651273|3986|-1||SNV|HGNC|HGNC:26062||||2||CCDS85917.1|ENSP00000368624||Q5T2W9.107|UPI0000205ACE||||||||0.8820|0.9478|0.8602|0.9881|0.7276|0.8579||||||||||0.8116|0.9332|0.7336|0.8436|0.7969|0.9786|0.7569|0.693|0.7263|0.8045|0.8468|0.9881|EAS||||20964851&19176549|||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,G|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay||1/10|ENST00000379325.7:c.-135-4057T>C|||||||rs9651273||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||0.8820|0.9478|0.8602|0.9881|0.7276|0.8579||||||||||0.8116|0.9332|0.7336|0.8436|0.7969|0.9786|0.7569|0.693|0.7263|0.8045|0.8468|0.9881|EAS||||20964851&19176549|||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding||2/11|ENST00000379339.5:c.-135-4057T>C|||||||rs9651273||-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||0.8820|0.9478|0.8602|0.9881|0.7276|0.8579||||||||||0.8116|0.9332|0.7336|0.8436|0.7969|0.9786|0.7569|0.693|0.7263|0.8045|0.8468|0.9881|EAS||||20964851&19176549|||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding||1/9|ENST00000421241.7:c.-135-4057T>C|||||||rs9651273||-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||0.8820|0.9478|0.8602|0.9881|0.7276|0.8579||||||||||0.8116|0.9332|0.7336|0.8436|0.7969|0.9786|0.7569|0.693|0.7263|0.8045|0.8468|0.9881|EAS||||20964851&19176549|||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,G|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000427787|protein_coding||||||||||rs9651273|3347|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000395935||B2REC5.64|UPI000173DCFE||||||||0.8820|0.9478|0.8602|0.9881|0.7276|0.8579||||||||||0.8116|0.9332|0.7336|0.8436|0.7969|0.9786|0.7569|0.693|0.7263|0.8045|0.8468|0.9881|EAS||||20964851&19176549|||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLC||,G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||1/10|ENST00000434641.5:c.-135-4057T>C|||||||rs9651273||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||0.8820|0.9478|0.8602|0.9881|0.7276|0.8579||||||||||0.8116|0.9332|0.7336|0.8436|0.7969|0.9786|0.7569|0.693|0.7263|0.8045|0.8468|0.9881|EAS||||20964851&19176549|||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,G|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000442117|protein_coding||||||||||rs9651273|3347|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000416740||B2REC4.74|UPI000173DCFD||||||||0.8820|0.9478|0.8602|0.9881|0.7276|0.8579||||||||||0.8116|0.9332|0.7336|0.8436|0.7969|0.9786|0.7569|0.693|0.7263|0.8045|0.8468|0.9881|EAS||||20964851&19176549|||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNA||,G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding||2/6|ENST00000462097.5:c.-135-4057T>C|||||||rs9651273||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20||||||||0.8820|0.9478|0.8602|0.9881|0.7276|0.8579||||||||||0.8116|0.9332|0.7336|0.8436|0.7969|0.9786|0.7569|0.693|0.7263|0.8045|0.8468|0.9881|EAS||||20964851&19176549|||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,G|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000465822|retained_intron||||||||||rs9651273|4083|-1||SNV|HGNC|HGNC:26062||||2||||||||||||||0.8820|0.9478|0.8602|0.9881|0.7276|0.8579||||||||||0.8116|0.9332|0.7336|0.8436|0.7969|0.9786|0.7569|0.693|0.7263|0.8045|0.8468|0.9881|EAS||||20964851&19176549|||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay||1/11|ENST00000467751.5:c.-135-4057T>C|||||||rs9651273||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||0.8820|0.9478|0.8602|0.9881|0.7276|0.8579||||||||||0.8116|0.9332|0.7336|0.8436|0.7969|0.9786|0.7569|0.693|0.7263|0.8045|0.8468|0.9881|EAS||||20964851&19176549|||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,G|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000472741|retained_intron||1/2|ENST00000472741.5:n.29-4057T>C|||||||rs9651273||-1||SNV|HGNC|HGNC:26062||||4||||||||||||||0.8820|0.9478|0.8602|0.9881|0.7276|0.8579||||||||||0.8116|0.9332|0.7336|0.8436|0.7969|0.9786|0.7569|0.693|0.7263|0.8045|0.8468|0.9881|EAS||||20964851&19176549|||||||||,G|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000473600|retained_intron||||||||||rs9651273|3866|-1||SNV|HGNC|HGNC:26062||||3||||||||||||||0.8820|0.9478|0.8602|0.9881|0.7276|0.8579||||||||||0.8116|0.9332|0.7336|0.8436|0.7969|0.9786|0.7569|0.693|0.7263|0.8045|0.8468|0.9881|EAS||||20964851&19176549|||||||||,G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding||1/5|ENST00000475119.5:c.-179-4057T>C|||||||rs9651273||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21||||||||0.8820|0.9478|0.8602|0.9881|0.7276|0.8579||||||||||0.8116|0.9332|0.7336|0.8436|0.7969|0.9786|0.7569|0.693|0.7263|0.8045|0.8468|0.9881|EAS||||20964851&19176549|||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,G|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay||1/9|ENST00000477196.5:c.-135-4057T>C|||||||rs9651273||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||0.8820|0.9478|0.8602|0.9881|0.7276|0.8579||||||||||0.8116|0.9332|0.7336|0.8436|0.7969|0.9786|0.7569|0.693|0.7263|0.8045|0.8468|0.9881|EAS||||20964851&19176549|||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000480643|protein_coding||4/5|ENST00000480643.1:c.-135-4057T>C|||||||rs9651273||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||4|||ENSP00000464657||J3QSF0.36|UPI0003F48015||||||||0.8820|0.9478|0.8602|0.9881|0.7276|0.8579||||||||||0.8116|0.9332|0.7336|0.8436|0.7969|0.9786|0.7569|0.693|0.7263|0.8045|0.8468|0.9881|EAS||||20964851&19176549|||||||MALRHLALLAGLLV||,G|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||1/9|ENST00000482816.5:n.185-4057T>C|||||||rs9651273||-1||SNV|HGNC|HGNC:26062||||5||||||||||||||0.8820|0.9478|0.8602|0.9881|0.7276|0.8579||||||||||0.8116|0.9332|0.7336|0.8436|0.7969|0.9786|0.7569|0.693|0.7263|0.8045|0.8468|0.9881|EAS||||20964851&19176549|||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000285812|Transcript|ENST00000648183|lncRNA||||||||||rs9651273|1425|1||SNV|||YES|||||||||||||||||0.8820|0.9478|0.8602|0.9881|0.7276|0.8579||||||||||0.8116|0.9332|0.7336|0.8436|0.7969|0.9786|0.7569|0.693|0.7263|0.8045|0.8468|0.9881|EAS||||20964851&19176549||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 1096230 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C1;DP=4;ECNT=2;GERMQ=37;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=73;POPAF=7.3;TLOD=6.78;SRC=custom;GRP=custom;CSQ=C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379319|protein_coding||1/9|ENST00000379319.5:c.-135-4127A>G|||||||||-1||SNV|HGNC|HGNC:26062||||5|P1|CCDS7.2|ENSP00000368623|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379320|protein_coding|||||||||||4056|-1||SNV|HGNC|HGNC:26062||||2||CCDS85917.1|ENSP00000368624||Q5T2W9.107|UPI0000205ACE||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay||1/10|ENST00000379325.7:c.-135-4127A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding||2/11|ENST00000379339.5:c.-135-4127A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding||1/9|ENST00000421241.7:c.-135-4127A>G|||||||||-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000427787|protein_coding|||||||||||3417|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000395935||B2REC5.64|UPI000173DCFE||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLC||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||1/10|ENST00000434641.5:c.-135-4127A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,C|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000442117|protein_coding|||||||||||3417|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000416740||B2REC4.74|UPI000173DCFD||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNA||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding||2/6|ENST00000462097.5:c.-135-4127A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,C|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000465822|retained_intron|||||||||||4153|-1||SNV|HGNC|HGNC:26062||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay||1/11|ENST00000467751.5:c.-135-4127A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,C|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000472741|retained_intron||1/2|ENST00000472741.5:n.29-4127A>G|||||||||-1||SNV|HGNC|HGNC:26062||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000473600|retained_intron|||||||||||3936|-1||SNV|HGNC|HGNC:26062||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding||1/5|ENST00000475119.5:c.-179-4127A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,C|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay||1/9|ENST00000477196.5:c.-135-4127A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000480643|protein_coding||4/5|ENST00000480643.1:c.-135-4127A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||4|||ENSP00000464657||J3QSF0.36|UPI0003F48015||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLV||,C|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||1/9|ENST00000482816.5:n.185-4127A>G|||||||||-1||SNV|HGNC|HGNC:26062||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000285812|Transcript|ENST00000648183|lncRNA|||||||||||1355|1||SNV|||YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.5:4:0,0:1,1:1,1:1,1,1,1 -chr1 1096440 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=132;POPAF=7.3;TLOD=3.58;SRC=custom;GRP=custom;CSQ=C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379319|protein_coding||1/9|ENST00000379319.5:c.-135-4337A>G|||||||||-1||SNV|HGNC|HGNC:26062||||5|P1|CCDS7.2|ENSP00000368623|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379320|protein_coding|||||||||||4266|-1||SNV|HGNC|HGNC:26062||||2||CCDS85917.1|ENSP00000368624||Q5T2W9.107|UPI0000205ACE||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay||1/10|ENST00000379325.7:c.-135-4337A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding||2/11|ENST00000379339.5:c.-135-4337A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding||1/9|ENST00000421241.7:c.-135-4337A>G|||||||||-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000427787|protein_coding|||||||||||3627|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000395935||B2REC5.64|UPI000173DCFE||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLC||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||1/10|ENST00000434641.5:c.-135-4337A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,C|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000442117|protein_coding|||||||||||3627|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000416740||B2REC4.74|UPI000173DCFD||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNA||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding||2/6|ENST00000462097.5:c.-135-4337A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,C|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000465822|retained_intron|||||||||||4363|-1||SNV|HGNC|HGNC:26062||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay||1/11|ENST00000467751.5:c.-135-4337A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,C|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000472741|retained_intron||1/2|ENST00000472741.5:n.29-4337A>G|||||||||-1||SNV|HGNC|HGNC:26062||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000473600|retained_intron|||||||||||4146|-1||SNV|HGNC|HGNC:26062||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding||1/5|ENST00000475119.5:c.-179-4337A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,C|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay||1/9|ENST00000477196.5:c.-135-4337A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000480643|protein_coding||4/5|ENST00000480643.1:c.-135-4337A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||4|||ENSP00000464657||J3QSF0.36|UPI0003F48015||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLV||,C|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||1/9|ENST00000482816.5:n.185-4337A>G|||||||||-1||SNV|HGNC|HGNC:26062||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000285812|Transcript|ENST00000648183|lncRNA|||||||||||1145|1||SNV|||YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 1096593 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C1;DP=4;ECNT=1;GERMQ=37;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=65;POPAF=7.3;TLOD=6.78;SRC=custom;GRP=custom;CSQ=T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379319|protein_coding||1/9|ENST00000379319.5:c.-135-4490G>A|||||||rs9651270||-1||SNV|HGNC|HGNC:26062||||5|P1|CCDS7.2|ENSP00000368623|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||0.3107|0.6029|0.1902|0.1885|0.167|0.2751||||||||||0.2707|0.5073|0.1283|0.2105|0.2037|0.189|0.2185|0.2405|0.1626|0.2634|0.2419|0.6029|AFR|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379320|protein_coding||||||||||rs9651270|4419|-1||SNV|HGNC|HGNC:26062||||2||CCDS85917.1|ENSP00000368624||Q5T2W9.107|UPI0000205ACE||||||||0.3107|0.6029|0.1902|0.1885|0.167|0.2751||||||||||0.2707|0.5073|0.1283|0.2105|0.2037|0.189|0.2185|0.2405|0.1626|0.2634|0.2419|0.6029|AFR|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay||1/10|ENST00000379325.7:c.-135-4490G>A|||||||rs9651270||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||0.3107|0.6029|0.1902|0.1885|0.167|0.2751||||||||||0.2707|0.5073|0.1283|0.2105|0.2037|0.189|0.2185|0.2405|0.1626|0.2634|0.2419|0.6029|AFR|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding||2/11|ENST00000379339.5:c.-135-4490G>A|||||||rs9651270||-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||0.3107|0.6029|0.1902|0.1885|0.167|0.2751||||||||||0.2707|0.5073|0.1283|0.2105|0.2037|0.189|0.2185|0.2405|0.1626|0.2634|0.2419|0.6029|AFR|||||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding||1/9|ENST00000421241.7:c.-135-4490G>A|||||||rs9651270||-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||0.3107|0.6029|0.1902|0.1885|0.167|0.2751||||||||||0.2707|0.5073|0.1283|0.2105|0.2037|0.189|0.2185|0.2405|0.1626|0.2634|0.2419|0.6029|AFR|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000427787|protein_coding||||||||||rs9651270|3780|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000395935||B2REC5.64|UPI000173DCFE||||||||0.3107|0.6029|0.1902|0.1885|0.167|0.2751||||||||||0.2707|0.5073|0.1283|0.2105|0.2037|0.189|0.2185|0.2405|0.1626|0.2634|0.2419|0.6029|AFR|||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLC||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||1/10|ENST00000434641.5:c.-135-4490G>A|||||||rs9651270||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||0.3107|0.6029|0.1902|0.1885|0.167|0.2751||||||||||0.2707|0.5073|0.1283|0.2105|0.2037|0.189|0.2185|0.2405|0.1626|0.2634|0.2419|0.6029|AFR|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,T|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000442117|protein_coding||||||||||rs9651270|3780|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000416740||B2REC4.74|UPI000173DCFD||||||||0.3107|0.6029|0.1902|0.1885|0.167|0.2751||||||||||0.2707|0.5073|0.1283|0.2105|0.2037|0.189|0.2185|0.2405|0.1626|0.2634|0.2419|0.6029|AFR|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNA||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding||2/6|ENST00000462097.5:c.-135-4490G>A|||||||rs9651270||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20||||||||0.3107|0.6029|0.1902|0.1885|0.167|0.2751||||||||||0.2707|0.5073|0.1283|0.2105|0.2037|0.189|0.2185|0.2405|0.1626|0.2634|0.2419|0.6029|AFR|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,T|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000465822|retained_intron||||||||||rs9651270|4516|-1||SNV|HGNC|HGNC:26062||||2||||||||||||||0.3107|0.6029|0.1902|0.1885|0.167|0.2751||||||||||0.2707|0.5073|0.1283|0.2105|0.2037|0.189|0.2185|0.2405|0.1626|0.2634|0.2419|0.6029|AFR|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay||1/11|ENST00000467751.5:c.-135-4490G>A|||||||rs9651270||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||0.3107|0.6029|0.1902|0.1885|0.167|0.2751||||||||||0.2707|0.5073|0.1283|0.2105|0.2037|0.189|0.2185|0.2405|0.1626|0.2634|0.2419|0.6029|AFR|||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,T|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000472741|retained_intron||1/2|ENST00000472741.5:n.29-4490G>A|||||||rs9651270||-1||SNV|HGNC|HGNC:26062||||4||||||||||||||0.3107|0.6029|0.1902|0.1885|0.167|0.2751||||||||||0.2707|0.5073|0.1283|0.2105|0.2037|0.189|0.2185|0.2405|0.1626|0.2634|0.2419|0.6029|AFR|||||||||||||,T|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000473600|retained_intron||||||||||rs9651270|4299|-1||SNV|HGNC|HGNC:26062||||3||||||||||||||0.3107|0.6029|0.1902|0.1885|0.167|0.2751||||||||||0.2707|0.5073|0.1283|0.2105|0.2037|0.189|0.2185|0.2405|0.1626|0.2634|0.2419|0.6029|AFR|||||||||||||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding||1/5|ENST00000475119.5:c.-179-4490G>A|||||||rs9651270||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21||||||||0.3107|0.6029|0.1902|0.1885|0.167|0.2751||||||||||0.2707|0.5073|0.1283|0.2105|0.2037|0.189|0.2185|0.2405|0.1626|0.2634|0.2419|0.6029|AFR|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,T|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay||1/9|ENST00000477196.5:c.-135-4490G>A|||||||rs9651270||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||0.3107|0.6029|0.1902|0.1885|0.167|0.2751||||||||||0.2707|0.5073|0.1283|0.2105|0.2037|0.189|0.2185|0.2405|0.1626|0.2634|0.2419|0.6029|AFR|||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000480643|protein_coding||4/5|ENST00000480643.1:c.-135-4490G>A|||||||rs9651270||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||4|||ENSP00000464657||J3QSF0.36|UPI0003F48015||||||||0.3107|0.6029|0.1902|0.1885|0.167|0.2751||||||||||0.2707|0.5073|0.1283|0.2105|0.2037|0.189|0.2185|0.2405|0.1626|0.2634|0.2419|0.6029|AFR|||||||||||MALRHLALLAGLLV||,T|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||1/9|ENST00000482816.5:n.185-4490G>A|||||||rs9651270||-1||SNV|HGNC|HGNC:26062||||5||||||||||||||0.3107|0.6029|0.1902|0.1885|0.167|0.2751||||||||||0.2707|0.5073|0.1283|0.2105|0.2037|0.189|0.2185|0.2405|0.1626|0.2634|0.2419|0.6029|AFR|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000285812|Transcript|ENST00000648183|lncRNA||||||||||rs9651270|992|1||SNV|||YES|||||||||||||||||0.3107|0.6029|0.1902|0.1885|0.167|0.2751||||||||||0.2707|0.5073|0.1283|0.2105|0.2037|0.189|0.2185|0.2405|0.1626|0.2634|0.2419|0.6029|AFR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.5:4:0,0:1,1:1,1:1,1,1,1 -chr1 1096804 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=96;POPAF=7.3;TLOD=7.15;SRC=custom;GRP=custom;CSQ=G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379319|protein_coding||1/9|ENST00000379319.5:c.-135-4701T>C|||||||rs9651272||-1||SNV|HGNC|HGNC:26062||||5|P1|CCDS7.2|ENSP00000368623|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||0.8690|0.9017|0.8545|0.9881|0.7276|0.8579||||||||||0.7987|0.8889|0.7362|0.8378|0.7969|0.9787|0.7563|0.6911|0.7259|0.798|0.8462|0.9881|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,G|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379320|protein_coding||||||||||rs9651272|4630|-1||SNV|HGNC|HGNC:26062||||2||CCDS85917.1|ENSP00000368624||Q5T2W9.107|UPI0000205ACE||||||||0.8690|0.9017|0.8545|0.9881|0.7276|0.8579||||||||||0.7987|0.8889|0.7362|0.8378|0.7969|0.9787|0.7563|0.6911|0.7259|0.798|0.8462|0.9881|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,G|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay||1/10|ENST00000379325.7:c.-135-4701T>C|||||||rs9651272||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||0.8690|0.9017|0.8545|0.9881|0.7276|0.8579||||||||||0.7987|0.8889|0.7362|0.8378|0.7969|0.9787|0.7563|0.6911|0.7259|0.798|0.8462|0.9881|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding||2/11|ENST00000379339.5:c.-135-4701T>C|||||||rs9651272||-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||0.8690|0.9017|0.8545|0.9881|0.7276|0.8579||||||||||0.7987|0.8889|0.7362|0.8378|0.7969|0.9787|0.7563|0.6911|0.7259|0.798|0.8462|0.9881|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding||1/9|ENST00000421241.7:c.-135-4701T>C|||||||rs9651272||-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||0.8690|0.9017|0.8545|0.9881|0.7276|0.8579||||||||||0.7987|0.8889|0.7362|0.8378|0.7969|0.9787|0.7563|0.6911|0.7259|0.798|0.8462|0.9881|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,G|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000427787|protein_coding||||||||||rs9651272|3991|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000395935||B2REC5.64|UPI000173DCFE||||||||0.8690|0.9017|0.8545|0.9881|0.7276|0.8579||||||||||0.7987|0.8889|0.7362|0.8378|0.7969|0.9787|0.7563|0.6911|0.7259|0.798|0.8462|0.9881|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLC||,G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||1/10|ENST00000434641.5:c.-135-4701T>C|||||||rs9651272||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||0.8690|0.9017|0.8545|0.9881|0.7276|0.8579||||||||||0.7987|0.8889|0.7362|0.8378|0.7969|0.9787|0.7563|0.6911|0.7259|0.798|0.8462|0.9881|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,G|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000442117|protein_coding||||||||||rs9651272|3991|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000416740||B2REC4.74|UPI000173DCFD||||||||0.8690|0.9017|0.8545|0.9881|0.7276|0.8579||||||||||0.7987|0.8889|0.7362|0.8378|0.7969|0.9787|0.7563|0.6911|0.7259|0.798|0.8462|0.9881|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNA||,G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding||2/6|ENST00000462097.5:c.-135-4701T>C|||||||rs9651272||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20||||||||0.8690|0.9017|0.8545|0.9881|0.7276|0.8579||||||||||0.7987|0.8889|0.7362|0.8378|0.7969|0.9787|0.7563|0.6911|0.7259|0.798|0.8462|0.9881|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,G|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000465822|retained_intron||||||||||rs9651272|4727|-1||SNV|HGNC|HGNC:26062||||2||||||||||||||0.8690|0.9017|0.8545|0.9881|0.7276|0.8579||||||||||0.7987|0.8889|0.7362|0.8378|0.7969|0.9787|0.7563|0.6911|0.7259|0.798|0.8462|0.9881|EAS|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay||1/11|ENST00000467751.5:c.-135-4701T>C|||||||rs9651272||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||0.8690|0.9017|0.8545|0.9881|0.7276|0.8579||||||||||0.7987|0.8889|0.7362|0.8378|0.7969|0.9787|0.7563|0.6911|0.7259|0.798|0.8462|0.9881|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,G|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000472741|retained_intron||1/2|ENST00000472741.5:n.29-4701T>C|||||||rs9651272||-1||SNV|HGNC|HGNC:26062||||4||||||||||||||0.8690|0.9017|0.8545|0.9881|0.7276|0.8579||||||||||0.7987|0.8889|0.7362|0.8378|0.7969|0.9787|0.7563|0.6911|0.7259|0.798|0.8462|0.9881|EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000473600|retained_intron||||||||||rs9651272|4510|-1||SNV|HGNC|HGNC:26062||||3||||||||||||||0.8690|0.9017|0.8545|0.9881|0.7276|0.8579||||||||||0.7987|0.8889|0.7362|0.8378|0.7969|0.9787|0.7563|0.6911|0.7259|0.798|0.8462|0.9881|EAS|||||||||||||,G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding||1/5|ENST00000475119.5:c.-179-4701T>C|||||||rs9651272||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21||||||||0.8690|0.9017|0.8545|0.9881|0.7276|0.8579||||||||||0.7987|0.8889|0.7362|0.8378|0.7969|0.9787|0.7563|0.6911|0.7259|0.798|0.8462|0.9881|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,G|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay||1/9|ENST00000477196.5:c.-135-4701T>C|||||||rs9651272||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||0.8690|0.9017|0.8545|0.9881|0.7276|0.8579||||||||||0.7987|0.8889|0.7362|0.8378|0.7969|0.9787|0.7563|0.6911|0.7259|0.798|0.8462|0.9881|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000480643|protein_coding||4/5|ENST00000480643.1:c.-135-4701T>C|||||||rs9651272||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||4|||ENSP00000464657||J3QSF0.36|UPI0003F48015||||||||0.8690|0.9017|0.8545|0.9881|0.7276|0.8579||||||||||0.7987|0.8889|0.7362|0.8378|0.7969|0.9787|0.7563|0.6911|0.7259|0.798|0.8462|0.9881|EAS|||||||||||MALRHLALLAGLLV||,G|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||1/9|ENST00000482816.5:n.185-4701T>C|||||||rs9651272||-1||SNV|HGNC|HGNC:26062||||5||||||||||||||0.8690|0.9017|0.8545|0.9881|0.7276|0.8579||||||||||0.7987|0.8889|0.7362|0.8378|0.7969|0.9787|0.7563|0.6911|0.7259|0.798|0.8462|0.9881|EAS|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000285812|Transcript|ENST00000648183|lncRNA||||||||||rs9651272|781|1||SNV|||YES|||||||||||||||||0.8690|0.9017|0.8545|0.9881|0.7276|0.8579||||||||||0.7987|0.8889|0.7362|0.8378|0.7969|0.9787|0.7563|0.6911|0.7259|0.798|0.8462|0.9881|EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1096804 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=2;GERMQ=47;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=64;POPAF=7.3;TLOD=7.05;SRC=custom;GRP=custom;CSQ=G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379319|protein_coding||1/9|ENST00000379319.5:c.-135-4701T>C|||||||rs9651272||-1||SNV|HGNC|HGNC:26062||||5|P1|CCDS7.2|ENSP00000368623|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||0.8690|0.9017|0.8545|0.9881|0.7276|0.8579||||||||||0.7987|0.8889|0.7362|0.8378|0.7969|0.9787|0.7563|0.6911|0.7259|0.798|0.8462|0.9881|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,G|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379320|protein_coding||||||||||rs9651272|4630|-1||SNV|HGNC|HGNC:26062||||2||CCDS85917.1|ENSP00000368624||Q5T2W9.107|UPI0000205ACE||||||||0.8690|0.9017|0.8545|0.9881|0.7276|0.8579||||||||||0.7987|0.8889|0.7362|0.8378|0.7969|0.9787|0.7563|0.6911|0.7259|0.798|0.8462|0.9881|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,G|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay||1/10|ENST00000379325.7:c.-135-4701T>C|||||||rs9651272||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||0.8690|0.9017|0.8545|0.9881|0.7276|0.8579||||||||||0.7987|0.8889|0.7362|0.8378|0.7969|0.9787|0.7563|0.6911|0.7259|0.798|0.8462|0.9881|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding||2/11|ENST00000379339.5:c.-135-4701T>C|||||||rs9651272||-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||0.8690|0.9017|0.8545|0.9881|0.7276|0.8579||||||||||0.7987|0.8889|0.7362|0.8378|0.7969|0.9787|0.7563|0.6911|0.7259|0.798|0.8462|0.9881|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding||1/9|ENST00000421241.7:c.-135-4701T>C|||||||rs9651272||-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||0.8690|0.9017|0.8545|0.9881|0.7276|0.8579||||||||||0.7987|0.8889|0.7362|0.8378|0.7969|0.9787|0.7563|0.6911|0.7259|0.798|0.8462|0.9881|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,G|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000427787|protein_coding||||||||||rs9651272|3991|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000395935||B2REC5.64|UPI000173DCFE||||||||0.8690|0.9017|0.8545|0.9881|0.7276|0.8579||||||||||0.7987|0.8889|0.7362|0.8378|0.7969|0.9787|0.7563|0.6911|0.7259|0.798|0.8462|0.9881|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLC||,G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||1/10|ENST00000434641.5:c.-135-4701T>C|||||||rs9651272||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||0.8690|0.9017|0.8545|0.9881|0.7276|0.8579||||||||||0.7987|0.8889|0.7362|0.8378|0.7969|0.9787|0.7563|0.6911|0.7259|0.798|0.8462|0.9881|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,G|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000442117|protein_coding||||||||||rs9651272|3991|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000416740||B2REC4.74|UPI000173DCFD||||||||0.8690|0.9017|0.8545|0.9881|0.7276|0.8579||||||||||0.7987|0.8889|0.7362|0.8378|0.7969|0.9787|0.7563|0.6911|0.7259|0.798|0.8462|0.9881|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNA||,G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding||2/6|ENST00000462097.5:c.-135-4701T>C|||||||rs9651272||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20||||||||0.8690|0.9017|0.8545|0.9881|0.7276|0.8579||||||||||0.7987|0.8889|0.7362|0.8378|0.7969|0.9787|0.7563|0.6911|0.7259|0.798|0.8462|0.9881|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,G|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000465822|retained_intron||||||||||rs9651272|4727|-1||SNV|HGNC|HGNC:26062||||2||||||||||||||0.8690|0.9017|0.8545|0.9881|0.7276|0.8579||||||||||0.7987|0.8889|0.7362|0.8378|0.7969|0.9787|0.7563|0.6911|0.7259|0.798|0.8462|0.9881|EAS|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay||1/11|ENST00000467751.5:c.-135-4701T>C|||||||rs9651272||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||0.8690|0.9017|0.8545|0.9881|0.7276|0.8579||||||||||0.7987|0.8889|0.7362|0.8378|0.7969|0.9787|0.7563|0.6911|0.7259|0.798|0.8462|0.9881|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,G|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000472741|retained_intron||1/2|ENST00000472741.5:n.29-4701T>C|||||||rs9651272||-1||SNV|HGNC|HGNC:26062||||4||||||||||||||0.8690|0.9017|0.8545|0.9881|0.7276|0.8579||||||||||0.7987|0.8889|0.7362|0.8378|0.7969|0.9787|0.7563|0.6911|0.7259|0.798|0.8462|0.9881|EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000473600|retained_intron||||||||||rs9651272|4510|-1||SNV|HGNC|HGNC:26062||||3||||||||||||||0.8690|0.9017|0.8545|0.9881|0.7276|0.8579||||||||||0.7987|0.8889|0.7362|0.8378|0.7969|0.9787|0.7563|0.6911|0.7259|0.798|0.8462|0.9881|EAS|||||||||||||,G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding||1/5|ENST00000475119.5:c.-179-4701T>C|||||||rs9651272||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21||||||||0.8690|0.9017|0.8545|0.9881|0.7276|0.8579||||||||||0.7987|0.8889|0.7362|0.8378|0.7969|0.9787|0.7563|0.6911|0.7259|0.798|0.8462|0.9881|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,G|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay||1/9|ENST00000477196.5:c.-135-4701T>C|||||||rs9651272||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||0.8690|0.9017|0.8545|0.9881|0.7276|0.8579||||||||||0.7987|0.8889|0.7362|0.8378|0.7969|0.9787|0.7563|0.6911|0.7259|0.798|0.8462|0.9881|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000480643|protein_coding||4/5|ENST00000480643.1:c.-135-4701T>C|||||||rs9651272||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||4|||ENSP00000464657||J3QSF0.36|UPI0003F48015||||||||0.8690|0.9017|0.8545|0.9881|0.7276|0.8579||||||||||0.7987|0.8889|0.7362|0.8378|0.7969|0.9787|0.7563|0.6911|0.7259|0.798|0.8462|0.9881|EAS|||||||||||MALRHLALLAGLLV||,G|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||1/9|ENST00000482816.5:n.185-4701T>C|||||||rs9651272||-1||SNV|HGNC|HGNC:26062||||5||||||||||||||0.8690|0.9017|0.8545|0.9881|0.7276|0.8579||||||||||0.7987|0.8889|0.7362|0.8378|0.7969|0.9787|0.7563|0.6911|0.7259|0.798|0.8462|0.9881|EAS|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000285812|Transcript|ENST00000648183|lncRNA||||||||||rs9651272|781|1||SNV|||YES|||||||||||||||||0.8690|0.9017|0.8545|0.9881|0.7276|0.8579||||||||||0.7987|0.8889|0.7362|0.8378|0.7969|0.9787|0.7563|0.6911|0.7259|0.798|0.8462|0.9881|EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1096853 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=2;GERMQ=47;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=15;POPAF=7.3;TLOD=7.15;SRC=custom;GRP=custom;CSQ=C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379319|protein_coding||1/9|ENST00000379319.5:c.-135-4750A>G|||||||||-1||SNV|HGNC|HGNC:26062||||5|P1|CCDS7.2|ENSP00000368623|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379320|protein_coding|||||||||||4679|-1||SNV|HGNC|HGNC:26062||||2||CCDS85917.1|ENSP00000368624||Q5T2W9.107|UPI0000205ACE||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay||1/10|ENST00000379325.7:c.-135-4750A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding||2/11|ENST00000379339.5:c.-135-4750A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding||1/9|ENST00000421241.7:c.-135-4750A>G|||||||||-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000427787|protein_coding|||||||||||4040|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000395935||B2REC5.64|UPI000173DCFE||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLC||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||1/10|ENST00000434641.5:c.-135-4750A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,C|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000442117|protein_coding|||||||||||4040|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000416740||B2REC4.74|UPI000173DCFD||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNA||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding||2/6|ENST00000462097.5:c.-135-4750A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,C|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000465822|retained_intron|||||||||||4776|-1||SNV|HGNC|HGNC:26062||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay||1/11|ENST00000467751.5:c.-135-4750A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,C|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000472741|retained_intron||1/2|ENST00000472741.5:n.29-4750A>G|||||||||-1||SNV|HGNC|HGNC:26062||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000473600|retained_intron|||||||||||4559|-1||SNV|HGNC|HGNC:26062||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding||1/5|ENST00000475119.5:c.-179-4750A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,C|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay||1/9|ENST00000477196.5:c.-135-4750A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000480643|protein_coding||4/5|ENST00000480643.1:c.-135-4750A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||4|||ENSP00000464657||J3QSF0.36|UPI0003F48015||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLV||,C|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||1/9|ENST00000482816.5:n.185-4750A>G|||||||||-1||SNV|HGNC|HGNC:26062||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000285812|Transcript|ENST00000648183|lncRNA|||||||||||732|1||SNV|||YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1096900 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=15;POPAF=7.3;TLOD=3.58;SRC=custom;GRP=custom;CSQ=C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379319|protein_coding||1/9|ENST00000379319.5:c.-135-4797A>G|||||||||-1||SNV|HGNC|HGNC:26062||||5|P1|CCDS7.2|ENSP00000368623|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379320|protein_coding|||||||||||4726|-1||SNV|HGNC|HGNC:26062||||2||CCDS85917.1|ENSP00000368624||Q5T2W9.107|UPI0000205ACE||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay||1/10|ENST00000379325.7:c.-135-4797A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding||2/11|ENST00000379339.5:c.-135-4797A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding||1/9|ENST00000421241.7:c.-135-4797A>G|||||||||-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000427787|protein_coding|||||||||||4087|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000395935||B2REC5.64|UPI000173DCFE||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLC||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||1/10|ENST00000434641.5:c.-135-4797A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,C|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000442117|protein_coding|||||||||||4087|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000416740||B2REC4.74|UPI000173DCFD||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNA||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding||2/6|ENST00000462097.5:c.-135-4797A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,C|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000465822|retained_intron|||||||||||4823|-1||SNV|HGNC|HGNC:26062||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay||1/11|ENST00000467751.5:c.-135-4797A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,C|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000472741|retained_intron||1/2|ENST00000472741.5:n.29-4797A>G|||||||||-1||SNV|HGNC|HGNC:26062||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000473600|retained_intron|||||||||||4606|-1||SNV|HGNC|HGNC:26062||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding||1/5|ENST00000475119.5:c.-179-4797A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,C|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay||1/9|ENST00000477196.5:c.-135-4797A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000480643|protein_coding||4/5|ENST00000480643.1:c.-135-4797A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||4|||ENSP00000464657||J3QSF0.36|UPI0003F48015||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLV||,C|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||1/9|ENST00000482816.5:n.185-4797A>G|||||||||-1||SNV|HGNC|HGNC:26062||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000285812|Transcript|ENST00000648183|lncRNA|||||||||||685|1||SNV|||YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 1098619 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=37;POPAF=7.3;TLOD=6.95;SRC=custom;GRP=custom;CSQ=T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379319|protein_coding||1/9|ENST00000379319.5:c.-135-6516G>A|||||||rs4970353||-1||SNV|HGNC|HGNC:26062||||5|P1|CCDS7.2|ENSP00000368623|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||0.5411|0.2602|0.6628|0.7937|0.5567|0.5583||||||||||0.5121|0.335|0.6053|0.6222|0.5836|0.7842|0.5378|0.443|0.5613|0.5196|0.5724|0.7937|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay||1/10|ENST00000379325.7:c.-135-6516G>A|||||||rs4970353||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||0.5411|0.2602|0.6628|0.7937|0.5567|0.5583||||||||||0.5121|0.335|0.6053|0.6222|0.5836|0.7842|0.5378|0.443|0.5613|0.5196|0.5724|0.7937|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding||2/11|ENST00000379339.5:c.-135-6516G>A|||||||rs4970353||-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||0.5411|0.2602|0.6628|0.7937|0.5567|0.5583||||||||||0.5121|0.335|0.6053|0.6222|0.5836|0.7842|0.5378|0.443|0.5613|0.5196|0.5724|0.7937|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding||1/9|ENST00000421241.7:c.-135-6516G>A|||||||rs4970353||-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||0.5411|0.2602|0.6628|0.7937|0.5567|0.5583||||||||||0.5121|0.335|0.6053|0.6222|0.5836|0.7842|0.5378|0.443|0.5613|0.5196|0.5724|0.7937|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||1/10|ENST00000434641.5:c.-135-6516G>A|||||||rs4970353||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||0.5411|0.2602|0.6628|0.7937|0.5567|0.5583||||||||||0.5121|0.335|0.6053|0.6222|0.5836|0.7842|0.5378|0.443|0.5613|0.5196|0.5724|0.7937|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding||2/6|ENST00000462097.5:c.-135-6516G>A|||||||rs4970353||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20||||||||0.5411|0.2602|0.6628|0.7937|0.5567|0.5583||||||||||0.5121|0.335|0.6053|0.6222|0.5836|0.7842|0.5378|0.443|0.5613|0.5196|0.5724|0.7937|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,T|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay||1/11|ENST00000467751.5:c.-135-6516G>A|||||||rs4970353||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||0.5411|0.2602|0.6628|0.7937|0.5567|0.5583||||||||||0.5121|0.335|0.6053|0.6222|0.5836|0.7842|0.5378|0.443|0.5613|0.5196|0.5724|0.7937|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,T|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000472741|retained_intron||1/2|ENST00000472741.5:n.29-6516G>A|||||||rs4970353||-1||SNV|HGNC|HGNC:26062||||4||||||||||||||0.5411|0.2602|0.6628|0.7937|0.5567|0.5583||||||||||0.5121|0.335|0.6053|0.6222|0.5836|0.7842|0.5378|0.443|0.5613|0.5196|0.5724|0.7937|EAS|||||||||||||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding||1/5|ENST00000475119.5:c.-179-6516G>A|||||||rs4970353||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21||||||||0.5411|0.2602|0.6628|0.7937|0.5567|0.5583||||||||||0.5121|0.335|0.6053|0.6222|0.5836|0.7842|0.5378|0.443|0.5613|0.5196|0.5724|0.7937|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,T|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay||1/9|ENST00000477196.5:c.-135-6516G>A|||||||rs4970353||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||0.5411|0.2602|0.6628|0.7937|0.5567|0.5583||||||||||0.5121|0.335|0.6053|0.6222|0.5836|0.7842|0.5378|0.443|0.5613|0.5196|0.5724|0.7937|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000480643|protein_coding||4/5|ENST00000480643.1:c.-135-6516G>A|||||||rs4970353||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||4|||ENSP00000464657||J3QSF0.36|UPI0003F48015||||||||0.5411|0.2602|0.6628|0.7937|0.5567|0.5583||||||||||0.5121|0.335|0.6053|0.6222|0.5836|0.7842|0.5378|0.443|0.5613|0.5196|0.5724|0.7937|EAS|||||||||||MALRHLALLAGLLV||,T|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||1/9|ENST00000482816.5:n.185-6516G>A|||||||rs4970353||-1||SNV|HGNC|HGNC:26062||||5||||||||||||||0.5411|0.2602|0.6628|0.7937|0.5567|0.5583||||||||||0.5121|0.335|0.6053|0.6222|0.5836|0.7842|0.5378|0.443|0.5613|0.5196|0.5724|0.7937|EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000285812|Transcript|ENST00000648183|lncRNA||1/1|ENST00000648183.1:n.529+506C>T|||||||rs4970353||1||SNV|||YES|||||||||||||||||0.5411|0.2602|0.6628|0.7937|0.5567|0.5583||||||||||0.5121|0.335|0.6053|0.6222|0.5836|0.7842|0.5378|0.443|0.5613|0.5196|0.5724|0.7937|EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1100859 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C0|1%2C1;DP=3;ECNT=1;GERMQ=38;MBQ=31,33;MFRL=0,0;MMQ=60,60;MPOS=37;POPAF=7.3;TLOD=6.78;SRC=custom;GRP=custom;CSQ=T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379319|protein_coding||1/9|ENST00000379319.5:c.-136+5097C>A|||||||||-1||SNV|HGNC|HGNC:26062||||5|P1|CCDS7.2|ENSP00000368623|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay||1/10|ENST00000379325.7:c.-135-8756C>A|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding||2/11|ENST00000379339.5:c.-135-8756C>A|||||||||-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding||1/9|ENST00000421241.7:c.-135-8756C>A|||||||||-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||1/10|ENST00000434641.5:c.-135-8756C>A|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding||2/6|ENST00000462097.5:c.-136+5097C>A|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,T|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay||1/11|ENST00000467751.5:c.-135-8756C>A|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,T|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000472741|retained_intron||1/2|ENST00000472741.5:n.29-8756C>A|||||||||-1||SNV|HGNC|HGNC:26062||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding||1/5|ENST00000475119.5:c.-179-8756C>A|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,T|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay||1/9|ENST00000477196.5:c.-135-8756C>A|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000480643|protein_coding||4/5|ENST00000480643.1:c.-136+5097C>A|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||4|||ENSP00000464657||J3QSF0.36|UPI0003F48015||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLV||,T|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||1/9|ENST00000482816.5:n.185-8756C>A|||||||||-1||SNV|HGNC|HGNC:26062||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000285812|Transcript|ENST00000648183|lncRNA||1/1|ENST00000648183.1:n.529+2746G>T|||||||||1||SNV|||YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,2:0.5:3:0,0:1,1:1,1:1,0,1,1 -chr1 1101667 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=69;POPAF=7.3;TLOD=3.48;SRC=custom;GRP=custom;CSQ=T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379319|protein_coding||1/9|ENST00000379319.5:c.-136+4289G>A|||||||rs12134754||-1||SNV|HGNC|HGNC:26062||||5|P1|CCDS7.2|ENSP00000368623|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||0.1076|0.034|0.1268|0.0119|0.2624|0.1329||||||||||0.1806|0.05476|0.3257|0.1488|0.1883|0.0208|0.2527|0.3089|0.2654|0.1822|0.1408|0.3257|gnomADg_AMI|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay||1/10|ENST00000379325.7:c.-135-9564G>A|||||||rs12134754||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||0.1076|0.034|0.1268|0.0119|0.2624|0.1329||||||||||0.1806|0.05476|0.3257|0.1488|0.1883|0.0208|0.2527|0.3089|0.2654|0.1822|0.1408|0.3257|gnomADg_AMI|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding||2/11|ENST00000379339.5:c.-135-9564G>A|||||||rs12134754||-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||0.1076|0.034|0.1268|0.0119|0.2624|0.1329||||||||||0.1806|0.05476|0.3257|0.1488|0.1883|0.0208|0.2527|0.3089|0.2654|0.1822|0.1408|0.3257|gnomADg_AMI|||||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding||1/9|ENST00000421241.7:c.-135-9564G>A|||||||rs12134754||-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||0.1076|0.034|0.1268|0.0119|0.2624|0.1329||||||||||0.1806|0.05476|0.3257|0.1488|0.1883|0.0208|0.2527|0.3089|0.2654|0.1822|0.1408|0.3257|gnomADg_AMI|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||1/10|ENST00000434641.5:c.-135-9564G>A|||||||rs12134754||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||0.1076|0.034|0.1268|0.0119|0.2624|0.1329||||||||||0.1806|0.05476|0.3257|0.1488|0.1883|0.0208|0.2527|0.3089|0.2654|0.1822|0.1408|0.3257|gnomADg_AMI|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding||2/6|ENST00000462097.5:c.-136+4289G>A|||||||rs12134754||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20||||||||0.1076|0.034|0.1268|0.0119|0.2624|0.1329||||||||||0.1806|0.05476|0.3257|0.1488|0.1883|0.0208|0.2527|0.3089|0.2654|0.1822|0.1408|0.3257|gnomADg_AMI|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,T|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay||1/11|ENST00000467751.5:c.-135-9564G>A|||||||rs12134754||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||0.1076|0.034|0.1268|0.0119|0.2624|0.1329||||||||||0.1806|0.05476|0.3257|0.1488|0.1883|0.0208|0.2527|0.3089|0.2654|0.1822|0.1408|0.3257|gnomADg_AMI|||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,T|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000472741|retained_intron||1/2|ENST00000472741.5:n.29-9564G>A|||||||rs12134754||-1||SNV|HGNC|HGNC:26062||||4||||||||||||||0.1076|0.034|0.1268|0.0119|0.2624|0.1329||||||||||0.1806|0.05476|0.3257|0.1488|0.1883|0.0208|0.2527|0.3089|0.2654|0.1822|0.1408|0.3257|gnomADg_AMI|||||||||||||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding||1/5|ENST00000475119.5:c.-179-9564G>A|||||||rs12134754||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21||||||||0.1076|0.034|0.1268|0.0119|0.2624|0.1329||||||||||0.1806|0.05476|0.3257|0.1488|0.1883|0.0208|0.2527|0.3089|0.2654|0.1822|0.1408|0.3257|gnomADg_AMI|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,T|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay||1/9|ENST00000477196.5:c.-135-9564G>A|||||||rs12134754||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||0.1076|0.034|0.1268|0.0119|0.2624|0.1329||||||||||0.1806|0.05476|0.3257|0.1488|0.1883|0.0208|0.2527|0.3089|0.2654|0.1822|0.1408|0.3257|gnomADg_AMI|||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000480643|protein_coding||4/5|ENST00000480643.1:c.-136+4289G>A|||||||rs12134754||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||4|||ENSP00000464657||J3QSF0.36|UPI0003F48015||||||||0.1076|0.034|0.1268|0.0119|0.2624|0.1329||||||||||0.1806|0.05476|0.3257|0.1488|0.1883|0.0208|0.2527|0.3089|0.2654|0.1822|0.1408|0.3257|gnomADg_AMI|||||||||||MALRHLALLAGLLV||,T|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||1/9|ENST00000482816.5:n.185-9564G>A|||||||rs12134754||-1||SNV|HGNC|HGNC:26062||||5||||||||||||||0.1076|0.034|0.1268|0.0119|0.2624|0.1329||||||||||0.1806|0.05476|0.3257|0.1488|0.1883|0.0208|0.2527|0.3089|0.2654|0.1822|0.1408|0.3257|gnomADg_AMI|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000285812|Transcript|ENST00000648183|lncRNA||1/1|ENST00000648183.1:n.530-2366C>T|||||||rs12134754||1||SNV|||YES|||||||||||||||||0.1076|0.034|0.1268|0.0119|0.2624|0.1329||||||||||0.1806|0.05476|0.3257|0.1488|0.1883|0.0208|0.2527|0.3089|0.2654|0.1822|0.1408|0.3257|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 1107234 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C1;DP=4;ECNT=1;GERMQ=37;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=58;POPAF=7.3;TLOD=6.78;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379319|protein_coding|||||||||||1107|-1||SNV|HGNC|HGNC:26062||||5|P1|CCDS7.2|ENSP00000368623|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,A|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay||1/10|ENST00000379325.7:c.-136+8826C>T|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,A|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding||2/11|ENST00000379339.5:c.-136+7788C>T|||||||||-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,A|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding||1/9|ENST00000421241.7:c.-136+8826C>T|||||||||-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,A|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||1/10|ENST00000434641.5:c.-136+8826C>T|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,A|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding||1/6|ENST00000462097.5:c.-229-1185C>T|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,A|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay||1/11|ENST00000467751.5:c.-136+8826C>T|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,A|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000472741|retained_intron||1/2|ENST00000472741.5:n.28+8826C>T|||||||||-1||SNV|HGNC|HGNC:26062||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding||1/5|ENST00000475119.5:c.-180+8826C>T|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,A|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay||1/9|ENST00000477196.5:c.-136+8826C>T|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,A|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000480643|protein_coding||2/5|ENST00000480643.1:c.-451-363C>T|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||4|||ENSP00000464657||J3QSF0.36|UPI0003F48015||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLV||,A|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||1/9|ENST00000482816.5:n.184+8826C>T|||||||||-1||SNV|HGNC|HGNC:26062||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000285812|Transcript|ENST00000648183|lncRNA|||||||||||2636|1||SNV|||YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.5:4:0,0:1,1:1,1:1,1,1,1 -chr1 1110480 . A T . base_qual;clustered_events;haplotype AS_FilterStatus=base_qual;AS_SB_TABLE=1%2C2|1%2C0;DP=4;ECNT=3;GERMQ=40;MBQ=34,14;MFRL=0,0;MMQ=60,60;MPOS=128;POPAF=7.3;TLOD=3.42;SRC=custom;GRP=custom;CSQ=T|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379319|protein_coding|||||||||||4353|-1||SNV|HGNC|HGNC:26062||||5|P1|CCDS7.2|ENSP00000368623|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay||1/10|ENST00000379325.7:c.-136+5580T>A|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding||2/11|ENST00000379339.5:c.-136+4542T>A|||||||||-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding||1/9|ENST00000421241.7:c.-136+5580T>A|||||||||-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||1/10|ENST00000434641.5:c.-136+5580T>A|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding||1/6|ENST00000462097.5:c.-229-4431T>A|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,T|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay||1/11|ENST00000467751.5:c.-136+5580T>A|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,T|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000472741|retained_intron||1/2|ENST00000472741.5:n.28+5580T>A|||||||||-1||SNV|HGNC|HGNC:26062||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding||1/5|ENST00000475119.5:c.-180+5580T>A|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,T|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay||1/9|ENST00000477196.5:c.-136+5580T>A|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000480643|protein_coding||2/5|ENST00000480643.1:c.-451-3609T>A|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||4|||ENSP00000464657||J3QSF0.36|UPI0003F48015||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLV||,T|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||1/9|ENST00000482816.5:n.184+5580T>A|||||||||-1||SNV|HGNC|HGNC:26062||||5|||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:3,1:0.4:4:1,0:1,0:2,1:0|1:1110470_AA_CG:1110470:1,2,1,0 -chr1 1110490 . T A . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=1%2C2|1%2C0;DP=5;ECNT=3;GERMQ=40;MBQ=33,24;MFRL=0,0;MMQ=60,60;MPOS=118;POPAF=7.3;TLOD=3.38;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379319|protein_coding|||||||||||4363|-1||SNV|HGNC|HGNC:26062||||5|P1|CCDS7.2|ENSP00000368623|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,A|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay||1/10|ENST00000379325.7:c.-136+5570A>T|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,A|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding||2/11|ENST00000379339.5:c.-136+4532A>T|||||||||-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,A|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding||1/9|ENST00000421241.7:c.-136+5570A>T|||||||||-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,A|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||1/10|ENST00000434641.5:c.-136+5570A>T|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,A|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding||1/6|ENST00000462097.5:c.-229-4441A>T|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,A|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay||1/11|ENST00000467751.5:c.-136+5570A>T|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,A|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000472741|retained_intron||1/2|ENST00000472741.5:n.28+5570A>T|||||||||-1||SNV|HGNC|HGNC:26062||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding||1/5|ENST00000475119.5:c.-180+5570A>T|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,A|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay||1/9|ENST00000477196.5:c.-136+5570A>T|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,A|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000480643|protein_coding||2/5|ENST00000480643.1:c.-451-3619A>T|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||4|||ENSP00000464657||J3QSF0.36|UPI0003F48015||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLV||,A|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||1/9|ENST00000482816.5:n.184+5570A>T|||||||||-1||SNV|HGNC|HGNC:26062||||5|||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:3,1:0.396:4:1,0:1,1:2,1:0|1:1110470_AA_CG:1110470:1,2,1,0 -chr1 1110673 . T C . base_qual AS_FilterStatus=base_qual;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,19;MFRL=0,0;MMQ=60,60;MPOS=8;POPAF=7.3;TLOD=3.53;SRC=custom;GRP=custom;CSQ=C|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379319|protein_coding|||||||||||4546|-1||SNV|HGNC|HGNC:26062||||5|P1|CCDS7.2|ENSP00000368623|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay||1/10|ENST00000379325.7:c.-136+5387A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding||2/11|ENST00000379339.5:c.-136+4349A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding||1/9|ENST00000421241.7:c.-136+5387A>G|||||||||-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||1/10|ENST00000434641.5:c.-136+5387A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding||1/6|ENST00000462097.5:c.-229-4624A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,C|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay||1/11|ENST00000467751.5:c.-136+5387A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,C|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000472741|retained_intron||1/2|ENST00000472741.5:n.28+5387A>G|||||||||-1||SNV|HGNC|HGNC:26062||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding||1/5|ENST00000475119.5:c.-180+5387A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,C|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay||1/9|ENST00000477196.5:c.-136+5387A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000480643|protein_coding||2/5|ENST00000480643.1:c.-451-3802A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||4|||ENSP00000464657||J3QSF0.36|UPI0003F48015||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLV||,C|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||1/9|ENST00000482816.5:n.184+5387A>G|||||||||-1||SNV|HGNC|HGNC:26062||||5|||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1112230 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C1;DP=4;ECNT=1;GERMQ=37;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=16;POPAF=7.3;TLOD=6.78;SRC=custom;GRP=custom;CSQ=T|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay||1/10|ENST00000379325.7:c.-136+3830G>A|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding||2/11|ENST00000379339.5:c.-136+2792G>A|||||||||-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding||1/9|ENST00000421241.7:c.-136+3830G>A|||||||||-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||1/10|ENST00000434641.5:c.-136+3830G>A|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding||1/6|ENST00000462097.5:c.-230+3830G>A|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,T|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay||1/11|ENST00000467751.5:c.-136+3830G>A|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,T|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000472741|retained_intron||1/2|ENST00000472741.5:n.28+3830G>A|||||||||-1||SNV|HGNC|HGNC:26062||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding||1/5|ENST00000475119.5:c.-180+3830G>A|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,T|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay||1/9|ENST00000477196.5:c.-136+3830G>A|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000480643|protein_coding||2/5|ENST00000480643.1:c.-452+2792G>A|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||4|||ENSP00000464657||J3QSF0.36|UPI0003F48015||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLV||,T|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||1/9|ENST00000482816.5:n.184+3830G>A|||||||||-1||SNV|HGNC|HGNC:26062||||5|||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.5:4:0,0:1,1:1,1:1,1,1,1 -chr1 1112351 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=2;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=39;POPAF=7.3;TLOD=10.75;SRC=custom;GRP=custom;CSQ=G|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay||1/10|ENST00000379325.7:c.-136+3709T>C|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding||2/11|ENST00000379339.5:c.-136+2671T>C|||||||||-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding||1/9|ENST00000421241.7:c.-136+3709T>C|||||||||-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||1/10|ENST00000434641.5:c.-136+3709T>C|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding||1/6|ENST00000462097.5:c.-230+3709T>C|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,G|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay||1/11|ENST00000467751.5:c.-136+3709T>C|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,G|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000472741|retained_intron||1/2|ENST00000472741.5:n.28+3709T>C|||||||||-1||SNV|HGNC|HGNC:26062||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding||1/5|ENST00000475119.5:c.-180+3709T>C|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,G|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay||1/9|ENST00000477196.5:c.-136+3709T>C|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000480643|protein_coding||2/5|ENST00000480643.1:c.-452+2671T>C|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||4|||ENSP00000464657||J3QSF0.36|UPI0003F48015||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLV||,G|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||1/9|ENST00000482816.5:n.184+3709T>C|||||||||-1||SNV|HGNC|HGNC:26062||||5|||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,0:0,1:0,2:0,0,1,2 -chr1 1112351 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C0|1%2C1;DP=3;ECNT=1;GERMQ=38;MBQ=31,33;MFRL=0,0;MMQ=60,60;MPOS=45;POPAF=7.3;TLOD=6.78;SRC=custom;GRP=custom;CSQ=G|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay||1/10|ENST00000379325.7:c.-136+3709T>C|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding||2/11|ENST00000379339.5:c.-136+2671T>C|||||||||-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding||1/9|ENST00000421241.7:c.-136+3709T>C|||||||||-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||1/10|ENST00000434641.5:c.-136+3709T>C|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding||1/6|ENST00000462097.5:c.-230+3709T>C|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,G|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay||1/11|ENST00000467751.5:c.-136+3709T>C|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,G|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000472741|retained_intron||1/2|ENST00000472741.5:n.28+3709T>C|||||||||-1||SNV|HGNC|HGNC:26062||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding||1/5|ENST00000475119.5:c.-180+3709T>C|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,G|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay||1/9|ENST00000477196.5:c.-136+3709T>C|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000480643|protein_coding||2/5|ENST00000480643.1:c.-452+2671T>C|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||4|||ENSP00000464657||J3QSF0.36|UPI0003F48015||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLV||,G|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||1/9|ENST00000482816.5:n.184+3709T>C|||||||||-1||SNV|HGNC|HGNC:26062||||5|||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,2:0.5:3:0,0:1,1:1,1:1,0,1,1 -chr1 1112385 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=2;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=7;POPAF=7.3;TLOD=7.15;SRC=custom;GRP=custom;CSQ=A|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay||1/10|ENST00000379325.7:c.-136+3675C>T|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,A|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding||2/11|ENST00000379339.5:c.-136+2637C>T|||||||||-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,A|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding||1/9|ENST00000421241.7:c.-136+3675C>T|||||||||-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,A|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||1/10|ENST00000434641.5:c.-136+3675C>T|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,A|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding||1/6|ENST00000462097.5:c.-230+3675C>T|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,A|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay||1/11|ENST00000467751.5:c.-136+3675C>T|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,A|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000472741|retained_intron||1/2|ENST00000472741.5:n.28+3675C>T|||||||||-1||SNV|HGNC|HGNC:26062||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding||1/5|ENST00000475119.5:c.-180+3675C>T|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,A|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay||1/9|ENST00000477196.5:c.-136+3675C>T|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,A|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000480643|protein_coding||2/5|ENST00000480643.1:c.-452+2637C>T|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||4|||ENSP00000464657||J3QSF0.36|UPI0003F48015||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLV||,A|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||1/9|ENST00000482816.5:n.184+3675C>T|||||||||-1||SNV|HGNC|HGNC:26062||||5|||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1112865 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=3%2C2|1%2C1;DP=8;ECNT=4;GERMQ=40;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=115;POPAF=7.3;TLOD=6.02;SRC=custom;GRP=custom;CSQ=C|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay||1/10|ENST00000379325.7:c.-136+3195A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding||2/11|ENST00000379339.5:c.-136+2157A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding||1/9|ENST00000421241.7:c.-136+3195A>G|||||||||-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||1/10|ENST00000434641.5:c.-136+3195A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding||1/6|ENST00000462097.5:c.-230+3195A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,C|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay||1/11|ENST00000467751.5:c.-136+3195A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,C|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000472741|retained_intron||1/2|ENST00000472741.5:n.28+3195A>G|||||||||-1||SNV|HGNC|HGNC:26062||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding||1/5|ENST00000475119.5:c.-180+3195A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,C|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay||1/9|ENST00000477196.5:c.-136+3195A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000480643|protein_coding||2/5|ENST00000480643.1:c.-452+2157A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||4|||ENSP00000464657||J3QSF0.36|UPI0003F48015||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLV||,C|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||1/9|ENST00000482816.5:n.184+3195A>G|||||||||-1||SNV|HGNC|HGNC:26062||||5|||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:5,2:0.334:7:0,0:3,1:3,1:3,2,1,1 -chr1 1112892 . T C . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=5%2C5|1%2C1;DP=12;ECNT=4;GERMQ=49;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=88;POPAF=7.3;TLOD=6.43;SRC=custom;GRP=custom;CSQ=C|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay||1/10|ENST00000379325.7:c.-136+3168A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding||2/11|ENST00000379339.5:c.-136+2130A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding||1/9|ENST00000421241.7:c.-136+3168A>G|||||||||-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||1/10|ENST00000434641.5:c.-136+3168A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding||1/6|ENST00000462097.5:c.-230+3168A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,C|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay||1/11|ENST00000467751.5:c.-136+3168A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,C|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000472741|retained_intron||1/2|ENST00000472741.5:n.28+3168A>G|||||||||-1||SNV|HGNC|HGNC:26062||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding||1/5|ENST00000475119.5:c.-180+3168A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,C|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay||1/9|ENST00000477196.5:c.-136+3168A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000480643|protein_coding||2/5|ENST00000480643.1:c.-452+2130A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||4|||ENSP00000464657||J3QSF0.36|UPI0003F48015||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLV||,C|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||1/9|ENST00000482816.5:n.184+3168A>G|||||||||-1||SNV|HGNC|HGNC:26062||||5|||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:10,2:0.25:12:0,0:5,1:5,1:0|1:1112892_T_C:1112892:5,5,1,1 -chr1 1112897 . T C . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=5%2C5|1%2C1;DP=12;ECNT=4;GERMQ=49;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=83;POPAF=7.3;TLOD=6.43;SRC=custom;GRP=custom;CSQ=C|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay||1/10|ENST00000379325.7:c.-136+3163A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding||2/11|ENST00000379339.5:c.-136+2125A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding||1/9|ENST00000421241.7:c.-136+3163A>G|||||||||-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||1/10|ENST00000434641.5:c.-136+3163A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding||1/6|ENST00000462097.5:c.-230+3163A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,C|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay||1/11|ENST00000467751.5:c.-136+3163A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,C|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000472741|retained_intron||1/2|ENST00000472741.5:n.28+3163A>G|||||||||-1||SNV|HGNC|HGNC:26062||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding||1/5|ENST00000475119.5:c.-180+3163A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,C|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay||1/9|ENST00000477196.5:c.-136+3163A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000480643|protein_coding||2/5|ENST00000480643.1:c.-452+2125A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||4|||ENSP00000464657||J3QSF0.36|UPI0003F48015||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLV||,C|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||1/9|ENST00000482816.5:n.184+3163A>G|||||||||-1||SNV|HGNC|HGNC:26062||||5|||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:10,2:0.25:12:0,0:5,1:5,1:0|1:1112892_T_C:1112892:5,5,1,1 -chr1 1113318 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=6%2C4|4%2C4;DP=19;ECNT=2;GERMQ=35;MBQ=32,34;MFRL=0,0;MMQ=60,60;MPOS=84;POPAF=7.3;TLOD=27.87;SRC=custom;GRP=custom;CSQ=C|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay||1/10|ENST00000379325.7:c.-136+2742A>G|||||||rs1029046619||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding||2/11|ENST00000379339.5:c.-136+1704A>G|||||||rs1029046619||-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding||1/9|ENST00000421241.7:c.-136+2742A>G|||||||rs1029046619||-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||1/10|ENST00000434641.5:c.-136+2742A>G|||||||rs1029046619||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding||1/6|ENST00000462097.5:c.-230+2742A>G|||||||rs1029046619||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,C|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay||1/11|ENST00000467751.5:c.-136+2742A>G|||||||rs1029046619||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,C|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000472741|retained_intron||1/2|ENST00000472741.5:n.28+2742A>G|||||||rs1029046619||-1||SNV|HGNC|HGNC:26062||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding||1/5|ENST00000475119.5:c.-180+2742A>G|||||||rs1029046619||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,C|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay||1/9|ENST00000477196.5:c.-136+2742A>G|||||||rs1029046619||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000480643|protein_coding||2/5|ENST00000480643.1:c.-452+1704A>G|||||||rs1029046619||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||4|||ENSP00000464657||J3QSF0.36|UPI0003F48015||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLV||,C|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||1/9|ENST00000482816.5:n.184+2742A>G|||||||rs1029046619||-1||SNV|HGNC|HGNC:26062||||5|||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:10,8:0.5:18:0,0:5,4:5,5:0|1:1113318_T_C:1113318:6,4,4,4 -chr1 1113322 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=9%2C8|1%2C1;DP=19;ECNT=2;GERMQ=64;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=47;POPAF=7.3;TLOD=5.41;SRC=custom;GRP=custom;CSQ=C|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay||1/10|ENST00000379325.7:c.-136+2738A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding||2/11|ENST00000379339.5:c.-136+1700A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding||1/9|ENST00000421241.7:c.-136+2738A>G|||||||||-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||1/10|ENST00000434641.5:c.-136+2738A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding||1/6|ENST00000462097.5:c.-230+2738A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,C|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay||1/11|ENST00000467751.5:c.-136+2738A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,C|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000472741|retained_intron||1/2|ENST00000472741.5:n.28+2738A>G|||||||||-1||SNV|HGNC|HGNC:26062||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding||1/5|ENST00000475119.5:c.-180+2738A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,C|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay||1/9|ENST00000477196.5:c.-136+2738A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000480643|protein_coding||2/5|ENST00000480643.1:c.-452+1700A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||4|||ENSP00000464657||J3QSF0.36|UPI0003F48015||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLV||,C|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||1/9|ENST00000482816.5:n.184+2738A>G|||||||||-1||SNV|HGNC|HGNC:26062||||5|||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:17,2:0.167:19:0,0:9,1:9,1:0|1:1113318_T_C:1113318:9,8,1,1 -chr1 1113490 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C3|1%2C1;DP=7;ECNT=2;GERMQ=40;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=110;POPAF=7.3;TLOD=6.15;SRC=custom;GRP=custom;CSQ=C|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay||1/10|ENST00000379325.7:c.-136+2570A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding||2/11|ENST00000379339.5:c.-136+1532A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding||1/9|ENST00000421241.7:c.-136+2570A>G|||||||||-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||1/10|ENST00000434641.5:c.-136+2570A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding||1/6|ENST00000462097.5:c.-230+2570A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,C|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay||1/11|ENST00000467751.5:c.-136+2570A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,C|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000472741|retained_intron||1/2|ENST00000472741.5:n.28+2570A>G|||||||||-1||SNV|HGNC|HGNC:26062||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding||1/5|ENST00000475119.5:c.-180+2570A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,C|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay||1/9|ENST00000477196.5:c.-136+2570A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000480643|protein_coding||2/5|ENST00000480643.1:c.-452+1532A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||4|||ENSP00000464657||J3QSF0.36|UPI0003F48015||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLV||,C|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||1/9|ENST00000482816.5:n.184+2570A>G|||||||||-1||SNV|HGNC|HGNC:26062||||5|||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:5,2:0.333:7:1,0:2,1:3,1:2,3,1,1 -chr1 1113525 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C4|1%2C1;DP=8;ECNT=2;GERMQ=42;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=137;POPAF=7.3;TLOD=5.98;SRC=custom;GRP=custom;CSQ=C|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay||1/10|ENST00000379325.7:c.-136+2535A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding||2/11|ENST00000379339.5:c.-136+1497A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding||1/9|ENST00000421241.7:c.-136+2535A>G|||||||||-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||1/10|ENST00000434641.5:c.-136+2535A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding||1/6|ENST00000462097.5:c.-230+2535A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,C|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay||1/11|ENST00000467751.5:c.-136+2535A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,C|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000472741|retained_intron||1/2|ENST00000472741.5:n.28+2535A>G|||||||||-1||SNV|HGNC|HGNC:26062||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding||1/5|ENST00000475119.5:c.-180+2535A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,C|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay||1/9|ENST00000477196.5:c.-136+2535A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000480643|protein_coding||2/5|ENST00000480643.1:c.-452+1497A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||4|||ENSP00000464657||J3QSF0.36|UPI0003F48015||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLV||,C|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||1/9|ENST00000482816.5:n.184+2535A>G|||||||||-1||SNV|HGNC|HGNC:26062||||5|||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,2:0.286:8:1,0:2,1:4,1:2,4,1,1 -chr1 1113546 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=39;MBQ=31,34;MFRL=0,0;MMQ=60,60;MPOS=113;POPAF=7.3;TLOD=3.1;SRC=custom;GRP=custom;CSQ=G|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay||1/10|ENST00000379325.7:c.-136+2514T>C|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding||2/11|ENST00000379339.5:c.-136+1476T>C|||||||||-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding||1/9|ENST00000421241.7:c.-136+2514T>C|||||||||-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||1/10|ENST00000434641.5:c.-136+2514T>C|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding||1/6|ENST00000462097.5:c.-230+2514T>C|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,G|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay||1/11|ENST00000467751.5:c.-136+2514T>C|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,G|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000472741|retained_intron||1/2|ENST00000472741.5:n.28+2514T>C|||||||||-1||SNV|HGNC|HGNC:26062||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding||1/5|ENST00000475119.5:c.-180+2514T>C|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,G|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay||1/9|ENST00000477196.5:c.-136+2514T>C|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000480643|protein_coding||2/5|ENST00000480643.1:c.-452+1476T>C|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||4|||ENSP00000464657||J3QSF0.36|UPI0003F48015||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLV||,G|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||1/9|ENST00000482816.5:n.184+2514T>C|||||||||-1||SNV|HGNC|HGNC:26062||||5|||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,1:0.5:2:0,0:1,0:1,1:1,0,0,1 -chr1 1113733 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C2|1%2C1;DP=5;ECNT=1;GERMQ=38;MBQ=31,32;MFRL=0,0;MMQ=60,60;MPOS=53;POPAF=7.3;TLOD=6.17;SRC=custom;GRP=custom;CSQ=C|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay||1/10|ENST00000379325.7:c.-136+2327A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding||2/11|ENST00000379339.5:c.-136+1289A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding||1/9|ENST00000421241.7:c.-136+2327A>G|||||||||-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||1/10|ENST00000434641.5:c.-136+2327A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding||1/6|ENST00000462097.5:c.-230+2327A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,C|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay||1/11|ENST00000467751.5:c.-136+2327A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,C|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000472741|retained_intron||1/2|ENST00000472741.5:n.28+2327A>G|||||||||-1||SNV|HGNC|HGNC:26062||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding||1/5|ENST00000475119.5:c.-180+2327A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,C|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay||1/9|ENST00000477196.5:c.-136+2327A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000480643|protein_coding||2/5|ENST00000480643.1:c.-452+1289A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||4|||ENSP00000464657||J3QSF0.36|UPI0003F48015||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLV||,C|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||1/9|ENST00000482816.5:n.184+2327A>G|||||||||-1||SNV|HGNC|HGNC:26062||||5|||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,2:0.4:5:1,0:1,1:2,1:1,2,1,1 -chr1 1114590 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5%2C5|1%2C1;DP=12;ECNT=1;GERMQ=49;MBQ=32,32;MFRL=0,0;MMQ=60,60;MPOS=30;POPAF=7.3;TLOD=5.73;SRC=custom;GRP=custom;CSQ=C|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay||1/10|ENST00000379325.7:c.-136+1470A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding||2/11|ENST00000379339.5:c.-136+432A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding||1/9|ENST00000421241.7:c.-136+1470A>G|||||||||-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||1/10|ENST00000434641.5:c.-136+1470A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding||1/6|ENST00000462097.5:c.-230+1470A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,C|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay||1/11|ENST00000467751.5:c.-136+1470A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,C|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000472741|retained_intron||1/2|ENST00000472741.5:n.28+1470A>G|||||||||-1||SNV|HGNC|HGNC:26062||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding||1/5|ENST00000475119.5:c.-180+1470A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,C|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay||1/9|ENST00000477196.5:c.-136+1470A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000480643|protein_coding||2/5|ENST00000480643.1:c.-452+432A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||4|||ENSP00000464657||J3QSF0.36|UPI0003F48015||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLV||,C|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||1/9|ENST00000482816.5:n.184+1470A>G|||||||||-1||SNV|HGNC|HGNC:26062||||5|||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:10,2:0.25:12:0,0:4,1:5,1:5,5,1,1 -chr1 1124975 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=29;POPAF=7.3;TLOD=7.45;SRC=custom;GRP=custom;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs12567855||||SNV||||||||||||||||||||0.3357|0.4221|0.2723|0.2321|0.3658|0.3395||||||||||0.3744|0.4153|0.4419|0.3125|0.3631|0.2299|0.3237|0.5158|0.3832|0.3848|0.3452|0.5158|gnomADg_MID||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1130087 . T A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=67;POPAF=7.3;TLOD=6.85;SRC=custom;GRP=custom;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1143811 . T C . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=3;GERMQ=44;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=73;POPAF=7.3;TLOD=4.2;SRC=custom;GRP=custom;CSQ=C|non_coding_transcript_exon_variant|MODIFIER|LINC01342|ENSG00000223823|Transcript|ENST00000416774|lncRNA|3/3||ENST00000416774.1:n.1375T>C||1375|||||rs11260602||1||SNV|HGNC|HGNC:50551|YES|||1||||||||||||||0.2969|0.6029|0.1744|0.0437|0.2545|0.2751||||||||||0.3267|0.5461|0.2362|0.1849|0.1952|0.0463|0.333|0.288|0.2592|0.2678|0.2805|0.6029|AFR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,1:0,0:0,1:0|1:1143811_T_C:1143811:0,0,0,1 -chr1 1143818 . T C . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=3;GERMQ=44;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=66;POPAF=7.3;TLOD=4.2;SRC=custom;GRP=custom;CSQ=C|non_coding_transcript_exon_variant|MODIFIER|LINC01342|ENSG00000223823|Transcript|ENST00000416774|lncRNA|3/3||ENST00000416774.1:n.1382T>C||1382|||||rs11260603||1||SNV|HGNC|HGNC:50551|YES|||1||||||||||||||0.3035|0.6271|0.1744|0.0437|0.2555|0.2751||||||||||0.332|0.5648|0.2356|0.1853|0.195|0.04647|0.3334|0.288|0.2593|0.2705|0.2805|0.6271|AFR|||1|23382691&35974158||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,1:0,0:0,1:0|1:1143811_T_C:1143811:0,0,0,1 -chr1 1143881 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=3;GERMQ=44;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=3;POPAF=7.3;TLOD=3.27;SRC=custom;GRP=custom;CSQ=A|non_coding_transcript_exon_variant|MODIFIER|LINC01342|ENSG00000223823|Transcript|ENST00000416774|lncRNA|3/3||ENST00000416774.1:n.1445G>A||1445|||||rs116661896||1||SNV|HGNC|HGNC:50551|YES|||1||||||||||||||0.0389|0.0401|0.0231|0.0109|0.0288|0.0879||||||||||0.03201|0.03022|0.003289|0.01944|0.02045|0.008074|0.07116|0.02532|0.02878|0.02775|0.08833|0.08833|gnomADg_SAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 1152709 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,34;MFRL=0,0;MMQ=60,32;MPOS=24;POPAF=7.3;TLOD=7.05;SRC=custom;GRP=custom;CSQ=C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164819|open_chromatin_region||||||||||rs142163180||||SNV||||||||||||||||||||0.1623|0.3775|0.1052|0.0575|0.0656|0.1196||||||||||0.2462|0.4387|0.2279|0.1629|0.1121|0.1252|0.1971|0.3205|0.1365|0.2032|0.2215|0.4387|gnomADg_AFR|||||||||||||,C|intergenic_variant|MODIFIER|||||||||||||||rs142163180||||SNV||||||||||||||||||||0.1623|0.3775|0.1052|0.0575|0.0656|0.1196||||||||||0.2462|0.4387|0.2279|0.1629|0.1121|0.1252|0.1971|0.3205|0.1365|0.2032|0.2215|0.4387|gnomADg_AFR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1153882 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=101;POPAF=7.3;TLOD=7.55;SRC=custom;GRP=custom;CSQ=G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164820|open_chromatin_region||||||||||rs4970358||||SNV||||||||||||||||||||0.9910|0.9985|0.9827|1|0.9722|0.9969||||||||||0.9761|0.9945|0.9989|0.9795|0.9937|1|0.9375|0.9842|0.9659|0.9694|0.9961|1|EAS&gnomADg_EAS|||||||||||||,G|intergenic_variant|MODIFIER|||||||||||||||rs4970358||||SNV||||||||||||||||||||0.9910|0.9985|0.9827|1|0.9722|0.9969||||||||||0.9761|0.9945|0.9989|0.9795|0.9937|1|0.9375|0.9842|0.9659|0.9694|0.9961|1|EAS&gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1155197 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=132;POPAF=7.3;TLOD=3.38;SRC=custom;GRP=custom;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs6604972||||SNV||||||||||||||||||||0.9958|0.9985|0.9942|1|0.9851|1||||||||||0.9855|0.9966|0.9989|0.9954|0.9942|1|0.9611|1|0.9777|0.9876|0.9967|1|EAS&SAS&gnomADg_EAS&gnomADg_MID||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 1158233 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,22;MFRL=0,0;MMQ=60,60;MPOS=104;POPAF=7.3;TLOD=4.03;SRC=custom;GRP=custom;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1158233 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=81;POPAF=7.3;TLOD=7.35;SRC=custom;GRP=custom;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1158404 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C1;DP=4;ECNT=1;GERMQ=37;MBQ=32,31;MFRL=0,0;MMQ=60,60;MPOS=97;POPAF=7.3;TLOD=6.38;SRC=custom;GRP=custom;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs115569263||||SNV||||||||||||||||||||0.0387|0.0522|0.0216|0.002|0.0249|0.0849||||||||||0.03151|0.04021|0|0.01792|0.01442|0.002125|0.06417|0.02532|0.02387|0.02727|0.08794|0.08794|gnomADg_SAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.5:4:0,0:1,1:1,1:1,1,1,1 -chr1 1159105 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=49;POPAF=7.3;TLOD=3.48;SRC=custom;GRP=custom;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs4970360||||SNV||||||||||||||||||||0.5345|0.3336|0.7147|0.5486|0.6252|0.5706||||||||||0.5478|0.3721|0.7226|0.7043|0.6835|0.5331|0.5132|0.5854|0.6127|0.5889|0.5836|0.7226|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 1159358 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=107;POPAF=7.3;TLOD=7.15;SRC=custom;GRP=custom;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs4970362||||SNV||||||||||||||||||||0.6040|0.4977|0.7435|0.5506|0.6501|0.6564||||||||||0.6095|0.517|0.7242|0.7311|0.6975|0.536|0.5764|0.6234|0.6379|0.6349|0.672|0.7435|AMR||||20964851&19176549||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1159701 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=2;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=75;POPAF=7.3;TLOD=4.2;SRC=custom;GRP=custom;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs147938056||||SNV||||||||||||||||||||0.0280|0.0113|0.0216|0.002|0.0239|0.0859||||||||||0.02272|0.009475|0|0.014|0.0144|0.001924|0.06434|0.02532|0.02408|0.0191|0.08754|0.08754|gnomADg_SAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,1:0,0:0,1:0|1:1159701_C_G:1159701:0,0,0,1 -chr1 1159721 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=2;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=55;POPAF=7.3;TLOD=4.2;SRC=custom;GRP=custom;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs943512440||||SNV|||||||||||||||||||||||||||||||||||9.855e-05|7.237e-05|0|0.0001308|0.002021|0|0|0|4.409e-05|0|0|0.002021|gnomADg_ASJ||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,1:0,0:0,1:0|1:1159701_C_G:1159701:0,0,0,1 -chr1 1160239 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=1;GERMQ=52;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=92;POPAF=7.3;TLOD=13.85;SRC=custom;GRP=custom;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs4970419||||SNV||||||||||||||||||||0.6458|0.6475|0.755|0.5526|0.6521|0.6554||||||||||0.6476|0.6412|0.7252|0.7473|0.7074|0.5364|0.58|0.6551|0.6418|0.66|0.6739|0.755|AMR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 1160818 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C1;DP=4;ECNT=1;GERMQ=37;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=29;POPAF=7.3;TLOD=6.68;SRC=custom;GRP=custom;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164821|enhancer||||||||||rs9442382||||SNV||||||||||||||||||||0.5485|0.3835|0.7176|0.5496|0.6262|0.5706||||||||||0.5635|0.4197|0.7242|0.7092|0.683|0.5295|0.5151|0.6013|0.6174|0.6001|0.5843|0.7242|gnomADg_AMI|||||||||||||,T|intergenic_variant|MODIFIER|||||||||||||||rs9442382||||SNV||||||||||||||||||||0.5485|0.3835|0.7176|0.5496|0.6262|0.5706||||||||||0.5635|0.4197|0.7242|0.7092|0.683|0.5295|0.5151|0.6013|0.6174|0.6001|0.5843|0.7242|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.5:4:0,0:1,1:1,1:1,1,1,1 -chr1 1160818 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C3;DP=6;ECNT=1;GERMQ=55;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=54;POPAF=7.3;TLOD=17.98;SRC=custom;GRP=custom;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164821|enhancer||||||||||rs9442382||||SNV||||||||||||||||||||0.5485|0.3835|0.7176|0.5496|0.6262|0.5706||||||||||0.5635|0.4197|0.7242|0.7092|0.683|0.5295|0.5151|0.6013|0.6174|0.6001|0.5843|0.7242|gnomADg_AMI|||||||||||||,T|intergenic_variant|MODIFIER|||||||||||||||rs9442382||||SNV||||||||||||||||||||0.5485|0.3835|0.7176|0.5496|0.6262|0.5706||||||||||0.5635|0.4197|0.7242|0.7092|0.683|0.5295|0.5151|0.6013|0.6174|0.6001|0.5843|0.7242|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.833:5:0,0:0,2:0,4:0,0,2,3 -chr1 1161012 . A T . base_qual;clustered_events;haplotype AS_FilterStatus=base_qual;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=3;GERMQ=44;MBQ=0,13;MFRL=0,0;MMQ=60,60;MPOS=124;POPAF=7.3;TLOD=4.2;SRC=custom;GRP=custom;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,0:0,0:0,1:0|1:1161012_A_T:1161012:0,0,0,1 -chr1 1161015 . A T . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=3;GERMQ=44;MBQ=0,25;MFRL=0,0;MMQ=60,60;MPOS=127;POPAF=7.3;TLOD=4.2;SRC=custom;GRP=custom;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,1:0,0:0,1:0|1:1161012_A_T:1161012:0,0,0,1 -chr1 1161018 . A T . base_qual;clustered_events;haplotype AS_FilterStatus=base_qual;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=3;GERMQ=44;MBQ=0,12;MFRL=0,0;MMQ=60,60;MPOS=130;POPAF=7.3;TLOD=4.2;SRC=custom;GRP=custom;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,0:0,0:0,1:0|1:1161012_A_T:1161012:0,0,0,1 -chr1 1161528 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=41;POPAF=7.3;TLOD=3.58;SRC=custom;GRP=custom;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs1539636||||SNV||||||||||||||||||||0.8163|0.8154|0.8775|0.5992|0.9374|0.8732||||||||||0.8756|0.8167|0.9901|0.8894|0.8929|0.595|0.9003|0.8481|0.924|0.8606|0.8749|0.9901|gnomADg_AMI||||21686129||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 1161528 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=43;POPAF=7.3;TLOD=7.55;SRC=custom;GRP=custom;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs1539636||||SNV||||||||||||||||||||0.8163|0.8154|0.8775|0.5992|0.9374|0.8732||||||||||0.8756|0.8167|0.9901|0.8894|0.8929|0.595|0.9003|0.8481|0.924|0.8606|0.8749|0.9901|gnomADg_AMI||||21686129||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1161712 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C1;DP=4;ECNT=2;GERMQ=37;MBQ=34,32;MFRL=0,0;MMQ=60,60;MPOS=43;POPAF=7.3;TLOD=6.48;SRC=custom;GRP=custom;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs1539635||||SNV||||||||||||||||||||0.5369|0.3321|0.7147|0.5526|0.6252|0.5808||||||||||0.5479|0.3721|0.7226|0.7033|0.6838|0.5374|0.5126|0.6044|0.6127|0.588|0.5878|0.7226|gnomADg_AMI||||21686129||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:2,2:0.5:4:0,0:1,1:1,1:0|1:1161712_G_A:1161712:1,1,1,1 -chr1 1161720 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C1;DP=3;ECNT=1;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=108;POPAF=7.3;TLOD=8.04;SRC=custom;GRP=custom;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs1539634||||SNV||||||||||||||||||||0.8141|0.7995|0.879|0.5992|0.9414|0.8783||||||||||0.8728|0.7976|0.9901|0.8933|0.9011|0.5908|0.8997|0.9051|0.9278|0.8665|0.878|0.9901|gnomADg_AMI||||21686129||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.744:3:0,0:0,1:0,2:0,0,2,1 -chr1 1161720 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=2;GERMQ=50;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=34;POPAF=7.3;TLOD=12.4;SRC=custom;GRP=custom;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs1539634||||SNV||||||||||||||||||||0.8141|0.7995|0.879|0.5992|0.9414|0.8783||||||||||0.8728|0.7976|0.9901|0.8933|0.9011|0.5908|0.8997|0.9051|0.9278|0.8665|0.878|0.9901|gnomADg_AMI||||21686129||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.75:3:0,0:0,1:0,2:0|1:1161712_G_A:1161712:0,0,1,2 -chr1 1161907 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=2;GERMQ=49;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=40;POPAF=7.3;TLOD=10.65;SRC=custom;GRP=custom;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs9442384||||SNV||||||||||||||||||||0.8185|0.8162|0.8804|0.5982|0.9423|0.8773||||||||||0.8799|0.8183|0.9901|0.8975|0.9078|0.5958|0.8998|0.9335|0.9289|0.873|0.88|0.9901|gnomADg_AMI||||21686129||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,1:0,1:0,2:0,0,1,2 -chr1 1161955 . T G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=2;GERMQ=44;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=3;POPAF=7.3;TLOD=3.28;SRC=custom;GRP=custom;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs9442385||||SNV||||||||||||||||||||0.8347|0.8192|0.9035|0.6339|0.9553|0.8896||||||||||0.8783|0.8164|0.9901|0.8953|0.9012|0.5924|0.8997|0.9051|0.928|0.87|0.878|0.9901|gnomADg_AMI||||21686129||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 1161955 . T G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=2;GERMQ=47;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=87;POPAF=7.3;TLOD=6.52;SRC=custom;GRP=custom;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs9442385||||SNV||||||||||||||||||||0.8347|0.8192|0.9035|0.6339|0.9553|0.8896||||||||||0.8783|0.8164|0.9901|0.8953|0.9012|0.5924|0.8997|0.9051|0.928|0.87|0.878|0.9901|gnomADg_AMI||||21686129||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1162484 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=2;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=111;POPAF=7.3;TLOD=3.48;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER|MIR200B|ENSG00000207730|Transcript|ENST00000384997|miRNA|||||||||||4620|1||SNV|HGNC|HGNC:31579|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344515|promoter||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 1162557 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=53;POPAF=7.3;TLOD=3.48;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER|MIR200B|ENSG00000207730|Transcript|ENST00000384997|miRNA||||||||||rs1891907|4547|1||SNV|HGNC|HGNC:31579|YES|||||||||||||||||0.9996|0.9992|1|1|0.999|1||||||||||0.9976|0.9994|1|0.9996|1|1|0.9969|1|0.9956|0.9976|1|1|AMR&EAS&SAS&gnomADg_AMI&gnomADg_ASJ&gnomADg_EAS&gnomADg_MID&gnomADg_SAS|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344515|promoter||||||||||rs1891907||||SNV||||||||||||||||||||0.9996|0.9992|1|1|0.999|1||||||||||0.9976|0.9994|1|0.9996|1|1|0.9969|1|0.9956|0.9976|1|1|AMR&EAS&SAS&gnomADg_AMI&gnomADg_ASJ&gnomADg_EAS&gnomADg_MID&gnomADg_SAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 1162557 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=2;GERMQ=47;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=89;POPAF=7.3;TLOD=7.45;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER|MIR200B|ENSG00000207730|Transcript|ENST00000384997|miRNA||||||||||rs1891907|4547|1||SNV|HGNC|HGNC:31579|YES|||||||||||||||||0.9996|0.9992|1|1|0.999|1||||||||||0.9976|0.9994|1|0.9996|1|1|0.9969|1|0.9956|0.9976|1|1|AMR&EAS&SAS&gnomADg_AMI&gnomADg_ASJ&gnomADg_EAS&gnomADg_MID&gnomADg_SAS|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344515|promoter||||||||||rs1891907||||SNV||||||||||||||||||||0.9996|0.9992|1|1|0.999|1||||||||||0.9976|0.9994|1|0.9996|1|1|0.9969|1|0.9956|0.9976|1|1|AMR&EAS&SAS&gnomADg_AMI&gnomADg_ASJ&gnomADg_EAS&gnomADg_MID&gnomADg_SAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1162886 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|5%2C4;DP=11;ECNT=3;GERMQ=42;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=59;POPAF=7.3;TLOD=31.57;SRC=custom;GRP=custom;CSQ=T|upstream_gene_variant|MODIFIER|MIR200A|ENSG00000207607|Transcript|ENST00000384875|miRNA||||||||||rs147921662|4977|1||SNV|HGNC|HGNC:31578|YES|||||||||||||||||0.0262|0.0045|0.0216|0.002|0.0239|0.0859||||||||||0.02079|0.004945|0|0.01138|0.01152|0.001928|0.06175|0.02532|0.02373|0.01721|0.08706|0.08706|gnomADg_SAS|||||||||||||,T|upstream_gene_variant|MODIFIER|MIR200B|ENSG00000207730|Transcript|ENST00000384997|miRNA||||||||||rs147921662|4218|1||SNV|HGNC|HGNC:31579|YES|||||||||||||||||0.0262|0.0045|0.0216|0.002|0.0239|0.0859||||||||||0.02079|0.004945|0|0.01138|0.01152|0.001928|0.06175|0.02532|0.02373|0.01721|0.08706|0.08706|gnomADg_SAS|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344515|promoter||||||||||rs147921662||||SNV||||||||||||||||||||0.0262|0.0045|0.0216|0.002|0.0239|0.0859||||||||||0.02079|0.004945|0|0.01138|0.01152|0.001928|0.06175|0.02532|0.02373|0.01721|0.08706|0.08706|gnomADg_SAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,9:0.75:11:0,0:1,5:1,5:1,1,5,4 -chr1 1162886 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C1|2%2C1;DP=6;ECNT=1;GERMQ=37;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=96;POPAF=7.3;TLOD=9.75;SRC=custom;GRP=custom;CSQ=T|upstream_gene_variant|MODIFIER|MIR200A|ENSG00000207607|Transcript|ENST00000384875|miRNA||||||||||rs147921662|4977|1||SNV|HGNC|HGNC:31578|YES|||||||||||||||||0.0262|0.0045|0.0216|0.002|0.0239|0.0859||||||||||0.02079|0.004945|0|0.01138|0.01152|0.001928|0.06175|0.02532|0.02373|0.01721|0.08706|0.08706|gnomADg_SAS|||||||||||||,T|upstream_gene_variant|MODIFIER|MIR200B|ENSG00000207730|Transcript|ENST00000384997|miRNA||||||||||rs147921662|4218|1||SNV|HGNC|HGNC:31579|YES|||||||||||||||||0.0262|0.0045|0.0216|0.002|0.0239|0.0859||||||||||0.02079|0.004945|0|0.01138|0.01152|0.001928|0.06175|0.02532|0.02373|0.01721|0.08706|0.08706|gnomADg_SAS|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344515|promoter||||||||||rs147921662||||SNV||||||||||||||||||||0.0262|0.0045|0.0216|0.002|0.0239|0.0859||||||||||0.02079|0.004945|0|0.01138|0.01152|0.001928|0.06175|0.02532|0.02373|0.01721|0.08706|0.08706|gnomADg_SAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,3:0.5:6:0,0:2,2:2,2:2,1,2,1 -chr1 1162960 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=11%2C9|1%2C1;DP=22;ECNT=3;GERMQ=71;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=90;POPAF=7.3;TLOD=5.23;SRC=custom;GRP=custom;CSQ=T|upstream_gene_variant|MODIFIER|MIR200A|ENSG00000207607|Transcript|ENST00000384875|miRNA|||||||||||4903|1||SNV|HGNC|HGNC:31578|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|MIR200B|ENSG00000207730|Transcript|ENST00000384997|miRNA|||||||||||4144|1||SNV|HGNC|HGNC:31579|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344515|promoter||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:20,2:0.125:22:0,0:11,1:13,1:11,9,1,1 -chr1 1163041 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|21%2C20;DP=44;ECNT=3;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=48;POPAF=7.3;TLOD=146.18;SRC=custom;GRP=custom;CSQ=T|upstream_gene_variant|MODIFIER|MIR200A|ENSG00000207607|Transcript|ENST00000384875|miRNA||||||||||rs12135382|4822|1||SNV|HGNC|HGNC:31578|YES|||||||||||||||||0.4085|0.2224|0.634|0.2917|0.5765|0.4479||||||||||0.4721|0.2693|0.6615|0.6266|0.5758|0.281|0.4707|0.5411|0.5678|0.5019|0.4543|0.6615|gnomADg_AMI|||1|21686129&36501135&34594039|||||||||,T|upstream_gene_variant|MODIFIER|MIR200B|ENSG00000207730|Transcript|ENST00000384997|miRNA||||||||||rs12135382|4063|1||SNV|HGNC|HGNC:31579|YES|||||||||||||||||0.4085|0.2224|0.634|0.2917|0.5765|0.4479||||||||||0.4721|0.2693|0.6615|0.6266|0.5758|0.281|0.4707|0.5411|0.5678|0.5019|0.4543|0.6615|gnomADg_AMI|||1|21686129&36501135&34594039|||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344515|promoter||||||||||rs12135382||||SNV||||||||||||||||||||0.4085|0.2224|0.634|0.2917|0.5765|0.4479||||||||||0.4721|0.2693|0.6615|0.6266|0.5758|0.281|0.4707|0.5411|0.5678|0.5019|0.4543|0.6615|gnomADg_AMI|||1|21686129&36501135&34594039||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,41:0.961:41:0,0:0,21:0,23:0,0,21,20 -chr1 1163041 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|10%2C12;DP=23;ECNT=1;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=67;POPAF=7.3;TLOD=77.42;SRC=custom;GRP=custom;CSQ=T|upstream_gene_variant|MODIFIER|MIR200A|ENSG00000207607|Transcript|ENST00000384875|miRNA||||||||||rs12135382|4822|1||SNV|HGNC|HGNC:31578|YES|||||||||||||||||0.4085|0.2224|0.634|0.2917|0.5765|0.4479||||||||||0.4721|0.2693|0.6615|0.6266|0.5758|0.281|0.4707|0.5411|0.5678|0.5019|0.4543|0.6615|gnomADg_AMI|||1|21686129&36501135&34594039|||||||||,T|upstream_gene_variant|MODIFIER|MIR200B|ENSG00000207730|Transcript|ENST00000384997|miRNA||||||||||rs12135382|4063|1||SNV|HGNC|HGNC:31579|YES|||||||||||||||||0.4085|0.2224|0.634|0.2917|0.5765|0.4479||||||||||0.4721|0.2693|0.6615|0.6266|0.5758|0.281|0.4707|0.5411|0.5678|0.5019|0.4543|0.6615|gnomADg_AMI|||1|21686129&36501135&34594039|||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344515|promoter||||||||||rs12135382||||SNV||||||||||||||||||||0.4085|0.2224|0.634|0.2917|0.5765|0.4479||||||||||0.4721|0.2693|0.6615|0.6266|0.5758|0.281|0.4707|0.5411|0.5678|0.5019|0.4543|0.6615|gnomADg_AMI|||1|21686129&36501135&34594039||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,22:0.933:22:0,1:0,10:0,13:0,0,10,12 -chr1 1163178 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4%2C4|1%2C1;DP=11;ECNT=1;GERMQ=45;MBQ=34,32;MFRL=0,0;MMQ=60,60;MPOS=125;POPAF=7.3;TLOD=5.7;SRC=custom;GRP=custom;CSQ=T|upstream_gene_variant|MODIFIER|MIR200A|ENSG00000207607|Transcript|ENST00000384875|miRNA||||||||||rs984872064|4685|1||SNV|HGNC|HGNC:31578|YES||||||||||||||||||||||||||||||||7.229e-05|0.0002172|0|6.541e-05|0|0|0|0|1.47e-05|0|0|0.0002172|gnomADg_AFR|||||||||||||,T|upstream_gene_variant|MODIFIER|MIR200B|ENSG00000207730|Transcript|ENST00000384997|miRNA||||||||||rs984872064|3926|1||SNV|HGNC|HGNC:31579|YES||||||||||||||||||||||||||||||||7.229e-05|0.0002172|0|6.541e-05|0|0|0|0|1.47e-05|0|0|0.0002172|gnomADg_AFR|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344515|promoter||||||||||rs984872064||||SNV|||||||||||||||||||||||||||||||||||7.229e-05|0.0002172|0|6.541e-05|0|0|0|0|1.47e-05|0|0|0.0002172|gnomADg_AFR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:8,2:0.246:10:0,0:4,1:5,1:4,4,1,1 -chr1 1163334 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C0;DP=3;ECNT=1;GERMQ=50;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=16;POPAF=7.3;TLOD=10.43;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER|MIR200A|ENSG00000207607|Transcript|ENST00000384875|miRNA||||||||||rs4379629|4529|1||SNV|HGNC|HGNC:31578|YES|||||||||||||||||0.4273|0.2844|0.6513|0.2917|0.5875|0.4366||||||||||0.4953|0.3234|0.6601|0.6383|0.6012|0.2875|0.4728|0.5605|0.5813|0.5306|0.4499|0.6601|gnomADg_AMI||||21686129|||||||||,G|upstream_gene_variant|MODIFIER|MIR200B|ENSG00000207730|Transcript|ENST00000384997|miRNA||||||||||rs4379629|3770|1||SNV|HGNC|HGNC:31579|YES|||||||||||||||||0.4273|0.2844|0.6513|0.2917|0.5875|0.4366||||||||||0.4953|0.3234|0.6601|0.6383|0.6012|0.2875|0.4728|0.5605|0.5813|0.5306|0.4499|0.6601|gnomADg_AMI||||21686129|||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344515|promoter||||||||||rs4379629||||SNV||||||||||||||||||||0.4273|0.2844|0.6513|0.2917|0.5875|0.4366||||||||||0.4953|0.3234|0.6601|0.6383|0.6012|0.2875|0.4728|0.5605|0.5813|0.5306|0.4499|0.6601|gnomADg_AMI||||21686129|||||||||,G|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00525470911|||||||||||rs4379629||-1||SNV||||||||||||||||||||0.4273|0.2844|0.6513|0.2917|0.5875|0.4366||||||||||0.4953|0.3234|0.6601|0.6383|0.6012|0.2875|0.4728|0.5605|0.5813|0.5306|0.4499|0.6601|gnomADg_AMI||||21686129|ENSPFM0401|14|N|-0.008|MYBL1::MAX|||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.8:3:0,0:0,3:0,3:0,0,3,0 -chr1 1163531 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=12%2C5|1%2C1;DP=19;ECNT=1;GERMQ=64;MBQ=35,33;MFRL=0,0;MMQ=60,60;MPOS=47;POPAF=7.3;TLOD=5.2;SRC=custom;GRP=custom;CSQ=T|upstream_gene_variant|MODIFIER|MIR200A|ENSG00000207607|Transcript|ENST00000384875|miRNA|||||||||||4332|1||SNV|HGNC|HGNC:31578|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|MIR200B|ENSG00000207730|Transcript|ENST00000384997|miRNA|||||||||||3573|1||SNV|HGNC|HGNC:31579|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344515|promoter||||||||||||||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00494687516|||||||||||||1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||ENSPFM0598|26|Y|-0.120|TFAP2C::MAX||||,T|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00521395904|||||||||||||-1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||ENSPFM0566|14|Y|-0.061|TEAD4::MAX|||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:17,2:0.134:19:0,0:11,1:12,1:12,5,1,1 -chr1 1163718 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=8%2C12|1%2C1;DP=22;ECNT=1;GERMQ=71;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=131;POPAF=7.3;TLOD=5.38;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER|MIR200A|ENSG00000207607|Transcript|ENST00000384875|miRNA||||||||||rs1646689218|4145|1||SNV|HGNC|HGNC:31578|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|MIR200B|ENSG00000207730|Transcript|ENST00000384997|miRNA||||||||||rs1646689218|3386|1||SNV|HGNC|HGNC:31579|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344515|promoter||||||||||rs1646689218||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:20,2:0.118:22:4,0:8,1:14,1:8,12,1,1 -chr1 1163962 . A C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|7%2C9;DP=21;ECNT=1;GERMQ=87;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=64;POPAF=7.3;TLOD=55.5;SRC=custom;GRP=custom;CSQ=C|upstream_gene_variant|MODIFIER|MIR200A|ENSG00000207607|Transcript|ENST00000384875|miRNA||||||||||rs9660710|3901|1||SNV|HGNC|HGNC:31578|YES|||||||||||||||||0.8299|0.8298|0.8934|0.6022|0.9523|0.8937||||||||||0.8825|0.8265|0.9901|0.9004|0.9099|0.5748|0.8995|0.9494|0.9302|0.8767|0.8846|0.9901|gnomADg_AMI||||20964851&21686129&35309115&32284927&27374108|||||||||,C|upstream_gene_variant|MODIFIER|MIR200B|ENSG00000207730|Transcript|ENST00000384997|miRNA||||||||||rs9660710|3142|1||SNV|HGNC|HGNC:31579|YES|||||||||||||||||0.8299|0.8298|0.8934|0.6022|0.9523|0.8937||||||||||0.8825|0.8265|0.9901|0.9004|0.9099|0.5748|0.8995|0.9494|0.9302|0.8767|0.8846|0.9901|gnomADg_AMI||||20964851&21686129&35309115&32284927&27374108|||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344515|promoter||||||||||rs9660710||||SNV||||||||||||||||||||0.8299|0.8298|0.8934|0.6022|0.9523|0.8937||||||||||0.8825|0.8265|0.9901|0.9004|0.9099|0.5748|0.8995|0.9494|0.9302|0.8767|0.8846|0.9901|gnomADg_AMI||||20964851&21686129&35309115&32284927&27374108||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,16:0.925:16:0,3:0,7:0,10:0,0,7,9 -chr1 1163962 . A C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|7%2C5;DP=14;ECNT=2;GERMQ=76;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=56;POPAF=7.3;TLOD=44.25;SRC=custom;GRP=custom;CSQ=C|upstream_gene_variant|MODIFIER|MIR200A|ENSG00000207607|Transcript|ENST00000384875|miRNA||||||||||rs9660710|3901|1||SNV|HGNC|HGNC:31578|YES|||||||||||||||||0.8299|0.8298|0.8934|0.6022|0.9523|0.8937||||||||||0.8825|0.8265|0.9901|0.9004|0.9099|0.5748|0.8995|0.9494|0.9302|0.8767|0.8846|0.9901|gnomADg_AMI||||20964851&21686129&35309115&32284927&27374108|||||||||,C|upstream_gene_variant|MODIFIER|MIR200B|ENSG00000207730|Transcript|ENST00000384997|miRNA||||||||||rs9660710|3142|1||SNV|HGNC|HGNC:31579|YES|||||||||||||||||0.8299|0.8298|0.8934|0.6022|0.9523|0.8937||||||||||0.8825|0.8265|0.9901|0.9004|0.9099|0.5748|0.8995|0.9494|0.9302|0.8767|0.8846|0.9901|gnomADg_AMI||||20964851&21686129&35309115&32284927&27374108|||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344515|promoter||||||||||rs9660710||||SNV||||||||||||||||||||0.8299|0.8298|0.8934|0.6022|0.9523|0.8937||||||||||0.8825|0.8265|0.9901|0.9004|0.9099|0.5748|0.8995|0.9494|0.9302|0.8767|0.8846|0.9901|gnomADg_AMI||||20964851&21686129&35309115&32284927&27374108||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,12:0.897:12:0,0:0,7:0,7:0,0,7,5 -chr1 1163994 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=8%2C6|1%2C1;DP=16;ECNT=2;GERMQ=57;MBQ=33,35;MFRL=0,0;MMQ=60,60;MPOS=16;POPAF=7.3;TLOD=5.9;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER|MIR200A|ENSG00000207607|Transcript|ENST00000384875|miRNA|||||||||||3869|1||SNV|HGNC|HGNC:31578|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|MIR200B|ENSG00000207730|Transcript|ENST00000384997|miRNA|||||||||||3110|1||SNV|HGNC|HGNC:31579|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344515|promoter||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:14,2:0.182:16:0,0:8,1:8,1:8,6,1,1 -chr1 1164679 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=9%2C9|1%2C1;DP=20;ECNT=1;GERMQ=66;MBQ=34,34;MFRL=0,0;MMQ=60,60;MPOS=40;POPAF=7.3;TLOD=5.63;SRC=custom;GRP=custom;CSQ=C|upstream_gene_variant|MODIFIER|MIR429|ENSG00000198976|Transcript|ENST00000362106|miRNA|||||||||||4326|1||SNV|HGNC|HGNC:13784|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|MIR200A|ENSG00000207607|Transcript|ENST00000384875|miRNA|||||||||||3184|1||SNV|HGNC|HGNC:31578|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|MIR200B|ENSG00000207730|Transcript|ENST00000384997|miRNA|||||||||||2425|1||SNV|HGNC|HGNC:31579|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000272141|Transcript|ENST00000606993|lncRNA|||||||||||4678|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344515|promoter||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:18,2:0.154:20:1,0:9,1:10,1:9,9,1,1 -chr1 1164837 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|10%2C10;DP=22;ECNT=2;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=81;POPAF=7.3;TLOD=70.36;SRC=custom;GRP=custom;CSQ=T|upstream_gene_variant|MODIFIER|MIR429|ENSG00000198976|Transcript|ENST00000362106|miRNA||||||||||rs1891905|4168|1||SNV|HGNC|HGNC:13784|YES|||||||||||||||||0.8199|0.7935|0.8991|0.5992|0.9543|0.8885||||||||||0.8847|0.8012|0.9901|0.9138|0.9147|0.6031|0.9238|0.9652|0.9407|0.8878|0.8873|0.9901|gnomADg_AMI||||21686129|||||||||,T|upstream_gene_variant|MODIFIER|MIR200A|ENSG00000207607|Transcript|ENST00000384875|miRNA||||||||||rs1891905|3026|1||SNV|HGNC|HGNC:31578|YES|||||||||||||||||0.8199|0.7935|0.8991|0.5992|0.9543|0.8885||||||||||0.8847|0.8012|0.9901|0.9138|0.9147|0.6031|0.9238|0.9652|0.9407|0.8878|0.8873|0.9901|gnomADg_AMI||||21686129|||||||||,T|upstream_gene_variant|MODIFIER|MIR200B|ENSG00000207730|Transcript|ENST00000384997|miRNA||||||||||rs1891905|2267|1||SNV|HGNC|HGNC:31579|YES|||||||||||||||||0.8199|0.7935|0.8991|0.5992|0.9543|0.8885||||||||||0.8847|0.8012|0.9901|0.9138|0.9147|0.6031|0.9238|0.9652|0.9407|0.8878|0.8873|0.9901|gnomADg_AMI||||21686129|||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000272141|Transcript|ENST00000606993|lncRNA||||||||||rs1891905|4520|1||SNV|||YES|||||||||||||||||0.8199|0.7935|0.8991|0.5992|0.9543|0.8885||||||||||0.8847|0.8012|0.9901|0.9138|0.9147|0.6031|0.9238|0.9652|0.9407|0.8878|0.8873|0.9901|gnomADg_AMI||||21686129|||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344515|promoter||||||||||rs1891905||||SNV||||||||||||||||||||0.8199|0.7935|0.8991|0.5992|0.9543|0.8885||||||||||0.8847|0.8012|0.9901|0.9138|0.9147|0.6031|0.9238|0.9652|0.9407|0.8878|0.8873|0.9901|gnomADg_AMI||||21686129||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,20:0.93:20:0,1:0,10:0,12:0,0,10,10 -chr1 1164837 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|7%2C7;DP=14;ECNT=1;GERMQ=82;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=45;POPAF=7.3;TLOD=51.72;SRC=custom;GRP=custom;CSQ=T|upstream_gene_variant|MODIFIER|MIR429|ENSG00000198976|Transcript|ENST00000362106|miRNA||||||||||rs1891905|4168|1||SNV|HGNC|HGNC:13784|YES|||||||||||||||||0.8199|0.7935|0.8991|0.5992|0.9543|0.8885||||||||||0.8847|0.8012|0.9901|0.9138|0.9147|0.6031|0.9238|0.9652|0.9407|0.8878|0.8873|0.9901|gnomADg_AMI||||21686129|||||||||,T|upstream_gene_variant|MODIFIER|MIR200A|ENSG00000207607|Transcript|ENST00000384875|miRNA||||||||||rs1891905|3026|1||SNV|HGNC|HGNC:31578|YES|||||||||||||||||0.8199|0.7935|0.8991|0.5992|0.9543|0.8885||||||||||0.8847|0.8012|0.9901|0.9138|0.9147|0.6031|0.9238|0.9652|0.9407|0.8878|0.8873|0.9901|gnomADg_AMI||||21686129|||||||||,T|upstream_gene_variant|MODIFIER|MIR200B|ENSG00000207730|Transcript|ENST00000384997|miRNA||||||||||rs1891905|2267|1||SNV|HGNC|HGNC:31579|YES|||||||||||||||||0.8199|0.7935|0.8991|0.5992|0.9543|0.8885||||||||||0.8847|0.8012|0.9901|0.9138|0.9147|0.6031|0.9238|0.9652|0.9407|0.8878|0.8873|0.9901|gnomADg_AMI||||21686129|||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000272141|Transcript|ENST00000606993|lncRNA||||||||||rs1891905|4520|1||SNV|||YES|||||||||||||||||0.8199|0.7935|0.8991|0.5992|0.9543|0.8885||||||||||0.8847|0.8012|0.9901|0.9138|0.9147|0.6031|0.9238|0.9652|0.9407|0.8878|0.8873|0.9901|gnomADg_AMI||||21686129|||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344515|promoter||||||||||rs1891905||||SNV||||||||||||||||||||0.8199|0.7935|0.8991|0.5992|0.9543|0.8885||||||||||0.8847|0.8012|0.9901|0.9138|0.9147|0.6031|0.9238|0.9652|0.9407|0.8878|0.8873|0.9901|gnomADg_AMI||||21686129||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,14:0.9:14:0,1:0,7:0,8:0,0,7,7 -chr1 1164939 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C0|4%2C4;DP=10;ECNT=2;GERMQ=48;MBQ=29,33;MFRL=0,0;MMQ=60,60;MPOS=71;POPAF=7.3;TLOD=25.29;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER|MIR429|ENSG00000198976|Transcript|ENST00000362106|miRNA||||||||||rs1891904|4066|1||SNV|HGNC|HGNC:13784|YES|||||||||||||||||0.8021|0.8169|0.7954|0.5585|0.9523|0.8834||||||||||0.8788|0.8214|0.9901|0.8202|0.9067|0.576|0.9228|0.9304|0.9398|0.873|0.8825|0.9901|gnomADg_AMI||||21686129|||||||||,A|upstream_gene_variant|MODIFIER|MIR200A|ENSG00000207607|Transcript|ENST00000384875|miRNA||||||||||rs1891904|2924|1||SNV|HGNC|HGNC:31578|YES|||||||||||||||||0.8021|0.8169|0.7954|0.5585|0.9523|0.8834||||||||||0.8788|0.8214|0.9901|0.8202|0.9067|0.576|0.9228|0.9304|0.9398|0.873|0.8825|0.9901|gnomADg_AMI||||21686129|||||||||,A|upstream_gene_variant|MODIFIER|MIR200B|ENSG00000207730|Transcript|ENST00000384997|miRNA||||||||||rs1891904|2165|1||SNV|HGNC|HGNC:31579|YES|||||||||||||||||0.8021|0.8169|0.7954|0.5585|0.9523|0.8834||||||||||0.8788|0.8214|0.9901|0.8202|0.9067|0.576|0.9228|0.9304|0.9398|0.873|0.8825|0.9901|gnomADg_AMI||||21686129|||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000272141|Transcript|ENST00000606993|lncRNA||||||||||rs1891904|4418|1||SNV|||YES|||||||||||||||||0.8021|0.8169|0.7954|0.5585|0.9523|0.8834||||||||||0.8788|0.8214|0.9901|0.8202|0.9067|0.576|0.9228|0.9304|0.9398|0.873|0.8825|0.9901|gnomADg_AMI||||21686129|||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344515|promoter||||||||||rs1891904||||SNV||||||||||||||||||||0.8021|0.8169|0.7954|0.5585|0.9523|0.8834||||||||||0.8788|0.8214|0.9901|0.8202|0.9067|0.576|0.9228|0.9304|0.9398|0.873|0.8825|0.9901|gnomADg_AMI||||21686129||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,8:0.875:9:0,0:0,5:0,6:1,0,4,4 -chr1 1164939 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C0|4%2C6;DP=11;ECNT=1;GERMQ=54;MBQ=29,33;MFRL=0,0;MMQ=60,60;MPOS=92;POPAF=7.3;TLOD=31.16;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER|MIR429|ENSG00000198976|Transcript|ENST00000362106|miRNA||||||||||rs1891904|4066|1||SNV|HGNC|HGNC:13784|YES|||||||||||||||||0.8021|0.8169|0.7954|0.5585|0.9523|0.8834||||||||||0.8788|0.8214|0.9901|0.8202|0.9067|0.576|0.9228|0.9304|0.9398|0.873|0.8825|0.9901|gnomADg_AMI||||21686129|||||||||,A|upstream_gene_variant|MODIFIER|MIR200A|ENSG00000207607|Transcript|ENST00000384875|miRNA||||||||||rs1891904|2924|1||SNV|HGNC|HGNC:31578|YES|||||||||||||||||0.8021|0.8169|0.7954|0.5585|0.9523|0.8834||||||||||0.8788|0.8214|0.9901|0.8202|0.9067|0.576|0.9228|0.9304|0.9398|0.873|0.8825|0.9901|gnomADg_AMI||||21686129|||||||||,A|upstream_gene_variant|MODIFIER|MIR200B|ENSG00000207730|Transcript|ENST00000384997|miRNA||||||||||rs1891904|2165|1||SNV|HGNC|HGNC:31579|YES|||||||||||||||||0.8021|0.8169|0.7954|0.5585|0.9523|0.8834||||||||||0.8788|0.8214|0.9901|0.8202|0.9067|0.576|0.9228|0.9304|0.9398|0.873|0.8825|0.9901|gnomADg_AMI||||21686129|||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000272141|Transcript|ENST00000606993|lncRNA||||||||||rs1891904|4418|1||SNV|||YES|||||||||||||||||0.8021|0.8169|0.7954|0.5585|0.9523|0.8834||||||||||0.8788|0.8214|0.9901|0.8202|0.9067|0.576|0.9228|0.9304|0.9398|0.873|0.8825|0.9901|gnomADg_AMI||||21686129|||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344515|promoter||||||||||rs1891904||||SNV||||||||||||||||||||0.8021|0.8169|0.7954|0.5585|0.9523|0.8834||||||||||0.8788|0.8214|0.9901|0.8202|0.9067|0.576|0.9228|0.9304|0.9398|0.873|0.8825|0.9901|gnomADg_AMI||||21686129||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,10:0.872:11:0,1:0,5:0,6:1,0,4,6 -chr1 1165623 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|11%2C10;DP=21;ECNT=2;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=66;POPAF=7.3;TLOD=77.06;SRC=custom;GRP=custom;CSQ=T|upstream_gene_variant|MODIFIER|MIR429|ENSG00000198976|Transcript|ENST00000362106|miRNA||||||||||rs7549819|3382|1||SNV|HGNC|HGNC:13784|YES|||||||||||||||||0.7975|0.8064|0.7939|0.5536|0.9503|0.8824||||||||||0.8732|0.805|0.9901|0.817|0.9127|0.5646|0.9229|0.962|0.9388|0.8688|0.8779|0.9901|gnomADg_AMI||||30182779&34598837&27603512&31117970&36374407&37324511|||||||||,T|upstream_gene_variant|MODIFIER|MIR200A|ENSG00000207607|Transcript|ENST00000384875|miRNA||||||||||rs7549819|2240|1||SNV|HGNC|HGNC:31578|YES|||||||||||||||||0.7975|0.8064|0.7939|0.5536|0.9503|0.8824||||||||||0.8732|0.805|0.9901|0.817|0.9127|0.5646|0.9229|0.962|0.9388|0.8688|0.8779|0.9901|gnomADg_AMI||||30182779&34598837&27603512&31117970&36374407&37324511|||||||||,T|upstream_gene_variant|MODIFIER|MIR200B|ENSG00000207730|Transcript|ENST00000384997|miRNA||||||||||rs7549819|1481|1||SNV|HGNC|HGNC:31579|YES|||||||||||||||||0.7975|0.8064|0.7939|0.5536|0.9503|0.8824||||||||||0.8732|0.805|0.9901|0.817|0.9127|0.5646|0.9229|0.962|0.9388|0.8688|0.8779|0.9901|gnomADg_AMI||||30182779&34598837&27603512&31117970&36374407&37324511|||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000272141|Transcript|ENST00000606993|lncRNA||||||||||rs7549819|3734|1||SNV|||YES|||||||||||||||||0.7975|0.8064|0.7939|0.5536|0.9503|0.8824||||||||||0.8732|0.805|0.9901|0.817|0.9127|0.5646|0.9229|0.962|0.9388|0.8688|0.8779|0.9901|gnomADg_AMI||||30182779&34598837&27603512&31117970&36374407&37324511|||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344515|promoter||||||||||rs7549819||||SNV||||||||||||||||||||0.7975|0.8064|0.7939|0.5536|0.9503|0.8824||||||||||0.8732|0.805|0.9901|0.817|0.9127|0.5646|0.9229|0.962|0.9388|0.8688|0.8779|0.9901|gnomADg_AMI||||30182779&34598837&27603512&31117970&36374407&37324511||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,21:0.933:21:0,1:0,11:0,13:0,0,11,10 -chr1 1165623 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|6%2C5;DP=11;ECNT=1;GERMQ=73;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=66;POPAF=7.3;TLOD=40.44;SRC=custom;GRP=custom;CSQ=T|upstream_gene_variant|MODIFIER|MIR429|ENSG00000198976|Transcript|ENST00000362106|miRNA||||||||||rs7549819|3382|1||SNV|HGNC|HGNC:13784|YES|||||||||||||||||0.7975|0.8064|0.7939|0.5536|0.9503|0.8824||||||||||0.8732|0.805|0.9901|0.817|0.9127|0.5646|0.9229|0.962|0.9388|0.8688|0.8779|0.9901|gnomADg_AMI||||30182779&34598837&27603512&31117970&36374407&37324511|||||||||,T|upstream_gene_variant|MODIFIER|MIR200A|ENSG00000207607|Transcript|ENST00000384875|miRNA||||||||||rs7549819|2240|1||SNV|HGNC|HGNC:31578|YES|||||||||||||||||0.7975|0.8064|0.7939|0.5536|0.9503|0.8824||||||||||0.8732|0.805|0.9901|0.817|0.9127|0.5646|0.9229|0.962|0.9388|0.8688|0.8779|0.9901|gnomADg_AMI||||30182779&34598837&27603512&31117970&36374407&37324511|||||||||,T|upstream_gene_variant|MODIFIER|MIR200B|ENSG00000207730|Transcript|ENST00000384997|miRNA||||||||||rs7549819|1481|1||SNV|HGNC|HGNC:31579|YES|||||||||||||||||0.7975|0.8064|0.7939|0.5536|0.9503|0.8824||||||||||0.8732|0.805|0.9901|0.817|0.9127|0.5646|0.9229|0.962|0.9388|0.8688|0.8779|0.9901|gnomADg_AMI||||30182779&34598837&27603512&31117970&36374407&37324511|||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000272141|Transcript|ENST00000606993|lncRNA||||||||||rs7549819|3734|1||SNV|||YES|||||||||||||||||0.7975|0.8064|0.7939|0.5536|0.9503|0.8824||||||||||0.8732|0.805|0.9901|0.817|0.9127|0.5646|0.9229|0.962|0.9388|0.8688|0.8779|0.9901|gnomADg_AMI||||30182779&34598837&27603512&31117970&36374407&37324511|||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344515|promoter||||||||||rs7549819||||SNV||||||||||||||||||||0.7975|0.8064|0.7939|0.5536|0.9503|0.8824||||||||||0.8732|0.805|0.9901|0.817|0.9127|0.5646|0.9229|0.962|0.9388|0.8688|0.8779|0.9901|gnomADg_AMI||||30182779&34598837&27603512&31117970&36374407&37324511||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,11:0.889:11:0,0:0,6:0,7:0,0,6,5 -chr1 1165685 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=8%2C12|1%2C1;DP=23;ECNT=2;GERMQ=71;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=71;POPAF=7.3;TLOD=5.07;SRC=custom;GRP=custom;CSQ=C|upstream_gene_variant|MODIFIER|MIR429|ENSG00000198976|Transcript|ENST00000362106|miRNA|||||||||||3320|1||SNV|HGNC|HGNC:13784|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|MIR200A|ENSG00000207607|Transcript|ENST00000384875|miRNA|||||||||||2178|1||SNV|HGNC|HGNC:31578|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|MIR200B|ENSG00000207730|Transcript|ENST00000384997|miRNA|||||||||||1419|1||SNV|HGNC|HGNC:31579|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000272141|Transcript|ENST00000606993|lncRNA|||||||||||3672|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344515|promoter||||||||||||||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00204861527|||||||||||||1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||ENSPFM0605|6|Y|-0.050|TFAP4::MAX||||,C|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00401077600|||||||||||||1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||ENSPFM0402|8|N|-0.001|MYBL1::MAX||||,C|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00523473113|||||||||||||-1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||ENSPFM0239|17|N|0.001|GCM1::MAX|||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:20,2:0.118:22:2,0:8,1:14,1:8,12,1,1 -chr1 1165943 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5%2C5|3%2C4;DP=17;ECNT=1;GERMQ=37;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=88;POPAF=7.3;TLOD=23.39;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER|MIR429|ENSG00000198976|Transcript|ENST00000362106|miRNA|||||||||||3062|1||SNV|HGNC|HGNC:13784|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|MIR200A|ENSG00000207607|Transcript|ENST00000384875|miRNA|||||||||||1920|1||SNV|HGNC|HGNC:31578|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|MIR200B|ENSG00000207730|Transcript|ENST00000384997|miRNA|||||||||||1161|1||SNV|HGNC|HGNC:31579|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000272141|Transcript|ENST00000606993|lncRNA|||||||||||3414|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344515|promoter||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:10,7:0.5:17:0,2:5,3:5,5:5,5,3,4 -chr1 1165943 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=6%2C7|2%2C2;DP=17;ECNT=1;GERMQ=46;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=108;POPAF=7.3;TLOD=12.05;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER|MIR429|ENSG00000198976|Transcript|ENST00000362106|miRNA|||||||||||3062|1||SNV|HGNC|HGNC:13784|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|MIR200A|ENSG00000207607|Transcript|ENST00000384875|miRNA|||||||||||1920|1||SNV|HGNC|HGNC:31578|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|MIR200B|ENSG00000207730|Transcript|ENST00000384997|miRNA|||||||||||1161|1||SNV|HGNC|HGNC:31579|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000272141|Transcript|ENST00000606993|lncRNA|||||||||||3414|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344515|promoter||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:13,4:0.273:17:1,0:6,2:7,2:6,7,2,2 -chr1 1166689 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|6%2C5;DP=11;ECNT=1;GERMQ=72;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=89;POPAF=7.3;TLOD=40;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER|MIR429|ENSG00000198976|Transcript|ENST00000362106|miRNA||||||||||rs9442386|2316|1||SNV|HGNC|HGNC:13784|YES|||||||||||||||||0.9950|0.9985|0.9942|1|0.9831|0.998||||||||||0.9841|0.9963|0.9989|0.9938|0.9986|1|0.9597|1|0.9755|0.9842|0.9932|1|EAS&gnomADg_EAS&gnomADg_MID|||||||||||||,G|upstream_gene_variant|MODIFIER|MIR200A|ENSG00000207607|Transcript|ENST00000384875|miRNA||||||||||rs9442386|1174|1||SNV|HGNC|HGNC:31578|YES|||||||||||||||||0.9950|0.9985|0.9942|1|0.9831|0.998||||||||||0.9841|0.9963|0.9989|0.9938|0.9986|1|0.9597|1|0.9755|0.9842|0.9932|1|EAS&gnomADg_EAS&gnomADg_MID|||||||||||||,G|upstream_gene_variant|MODIFIER|MIR200B|ENSG00000207730|Transcript|ENST00000384997|miRNA||||||||||rs9442386|415|1||SNV|HGNC|HGNC:31579|YES|||||||||||||||||0.9950|0.9985|0.9942|1|0.9831|0.998||||||||||0.9841|0.9963|0.9989|0.9938|0.9986|1|0.9597|1|0.9755|0.9842|0.9932|1|EAS&gnomADg_EAS&gnomADg_MID|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000272141|Transcript|ENST00000606993|lncRNA||||||||||rs9442386|2668|1||SNV|||YES|||||||||||||||||0.9950|0.9985|0.9942|1|0.9831|0.998||||||||||0.9841|0.9963|0.9989|0.9938|0.9986|1|0.9597|1|0.9755|0.9842|0.9932|1|EAS&gnomADg_EAS&gnomADg_MID||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,11:0.875:11:0,0:0,6:0,6:0,0,6,5 -chr1 1166689 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C3;DP=7;ECNT=1;GERMQ=61;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=102;POPAF=7.3;TLOD=25.64;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER|MIR429|ENSG00000198976|Transcript|ENST00000362106|miRNA||||||||||rs9442386|2316|1||SNV|HGNC|HGNC:13784|YES|||||||||||||||||0.9950|0.9985|0.9942|1|0.9831|0.998||||||||||0.9841|0.9963|0.9989|0.9938|0.9986|1|0.9597|1|0.9755|0.9842|0.9932|1|EAS&gnomADg_EAS&gnomADg_MID|||||||||||||,G|upstream_gene_variant|MODIFIER|MIR200A|ENSG00000207607|Transcript|ENST00000384875|miRNA||||||||||rs9442386|1174|1||SNV|HGNC|HGNC:31578|YES|||||||||||||||||0.9950|0.9985|0.9942|1|0.9831|0.998||||||||||0.9841|0.9963|0.9989|0.9938|0.9986|1|0.9597|1|0.9755|0.9842|0.9932|1|EAS&gnomADg_EAS&gnomADg_MID|||||||||||||,G|upstream_gene_variant|MODIFIER|MIR200B|ENSG00000207730|Transcript|ENST00000384997|miRNA||||||||||rs9442386|415|1||SNV|HGNC|HGNC:31579|YES|||||||||||||||||0.9950|0.9985|0.9942|1|0.9831|0.998||||||||||0.9841|0.9963|0.9989|0.9938|0.9986|1|0.9597|1|0.9755|0.9842|0.9932|1|EAS&gnomADg_EAS&gnomADg_MID|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000272141|Transcript|ENST00000606993|lncRNA||||||||||rs9442386|2668|1||SNV|||YES|||||||||||||||||0.9950|0.9985|0.9942|1|0.9831|0.998||||||||||0.9841|0.9963|0.9989|0.9938|0.9986|1|0.9597|1|0.9755|0.9842|0.9932|1|EAS&gnomADg_EAS&gnomADg_MID||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,7:0.833:7:0,0:0,4:0,4:0,0,4,3 -chr1 1167682 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4%2C4|1%2C1;DP=10;ECNT=2;GERMQ=45;MBQ=33,31;MFRL=0,0;MMQ=60,60;MPOS=58;POPAF=7.3;TLOD=5.68;SRC=custom;GRP=custom;CSQ=T|upstream_gene_variant|MODIFIER|MIR429|ENSG00000198976|Transcript|ENST00000362106|miRNA|||||||||||1323|1||SNV|HGNC|HGNC:13784|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|MIR200A|ENSG00000207607|Transcript|ENST00000384875|miRNA|||||||||||181|1||SNV|HGNC|HGNC:31578|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|MIR200B|ENSG00000207730|Transcript|ENST00000384997|miRNA|||||||||||484|1||SNV|HGNC|HGNC:31579|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000272141|Transcript|ENST00000606993|lncRNA|||||||||||1675|1||SNV|||YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:8,2:0.286:10:0,0:4,1:4,1:4,4,1,1 -chr1 1167762 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4%2C4|1%2C1;DP=10;ECNT=2;GERMQ=45;MBQ=35,35;MFRL=0,0;MMQ=60,60;MPOS=13;POPAF=7.3;TLOD=6.48;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER|MIR429|ENSG00000198976|Transcript|ENST00000362106|miRNA|||||||||||1243|1||SNV|HGNC|HGNC:13784|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|MIR200A|ENSG00000207607|Transcript|ENST00000384875|miRNA|||||||||||101|1||SNV|HGNC|HGNC:31578|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|MIR200B|ENSG00000207730|Transcript|ENST00000384997|miRNA|||||||||||564|1||SNV|HGNC|HGNC:31579|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000272141|Transcript|ENST00000606993|lncRNA|||||||||||1595|1||SNV|||YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:8,2:0.286:10:0,0:4,1:4,1:4,4,1,1 -chr1 1168162 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=3;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=22;POPAF=7.3;TLOD=7.18;SRC=custom;GRP=custom;CSQ=C|upstream_gene_variant|MODIFIER|MIR429|ENSG00000198976|Transcript|ENST00000362106|miRNA||||||||||rs7518873|843|1||SNV|HGNC|HGNC:13784|YES|||||||||||||||||0.8001|0.8154|0.7939|0.5595|0.9553|0.8722||||||||||0.8754|0.8206|0.9901|0.8181|0.8747|0.544|0.9217|0.9423|0.9377|0.8651|0.8726|0.9901|gnomADg_AMI||||21686129|||||||||,C|downstream_gene_variant|MODIFIER|TTLL10-AS1|ENSG00000205231|Transcript|ENST00000379317|lncRNA||||||||||rs7518873|4894|-1||SNV|HGNC|HGNC:41159|YES|||2||||||||||||||0.8001|0.8154|0.7939|0.5595|0.9553|0.8722||||||||||0.8754|0.8206|0.9901|0.8181|0.8747|0.544|0.9217|0.9423|0.9377|0.8651|0.8726|0.9901|gnomADg_AMI||||21686129|||||||||,C|downstream_gene_variant|MODIFIER|MIR200A|ENSG00000207607|Transcript|ENST00000384875|miRNA||||||||||rs7518873|210|1||SNV|HGNC|HGNC:31578|YES|||||||||||||||||0.8001|0.8154|0.7939|0.5595|0.9553|0.8722||||||||||0.8754|0.8206|0.9901|0.8181|0.8747|0.544|0.9217|0.9423|0.9377|0.8651|0.8726|0.9901|gnomADg_AMI||||21686129|||||||||,C|downstream_gene_variant|MODIFIER|MIR200B|ENSG00000207730|Transcript|ENST00000384997|miRNA||||||||||rs7518873|964|1||SNV|HGNC|HGNC:31579|YES|||||||||||||||||0.8001|0.8154|0.7939|0.5595|0.9553|0.8722||||||||||0.8754|0.8206|0.9901|0.8181|0.8747|0.544|0.9217|0.9423|0.9377|0.8651|0.8726|0.9901|gnomADg_AMI||||21686129|||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000272141|Transcript|ENST00000606993|lncRNA||||||||||rs7518873|1195|1||SNV|||YES|||||||||||||||||0.8001|0.8154|0.7939|0.5595|0.9553|0.8722||||||||||0.8754|0.8206|0.9901|0.8181|0.8747|0.544|0.9217|0.9423|0.9377|0.8651|0.8726|0.9901|gnomADg_AMI||||21686129||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.684:2:0,0:0,1:0,1:0,0,1,1 -chr1 1168162 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=1;GERMQ=52;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=23;POPAF=7.3;TLOD=15.23;SRC=custom;GRP=custom;CSQ=C|upstream_gene_variant|MODIFIER|MIR429|ENSG00000198976|Transcript|ENST00000362106|miRNA||||||||||rs7518873|843|1||SNV|HGNC|HGNC:13784|YES|||||||||||||||||0.8001|0.8154|0.7939|0.5595|0.9553|0.8722||||||||||0.8754|0.8206|0.9901|0.8181|0.8747|0.544|0.9217|0.9423|0.9377|0.8651|0.8726|0.9901|gnomADg_AMI||||21686129|||||||||,C|downstream_gene_variant|MODIFIER|TTLL10-AS1|ENSG00000205231|Transcript|ENST00000379317|lncRNA||||||||||rs7518873|4894|-1||SNV|HGNC|HGNC:41159|YES|||2||||||||||||||0.8001|0.8154|0.7939|0.5595|0.9553|0.8722||||||||||0.8754|0.8206|0.9901|0.8181|0.8747|0.544|0.9217|0.9423|0.9377|0.8651|0.8726|0.9901|gnomADg_AMI||||21686129|||||||||,C|downstream_gene_variant|MODIFIER|MIR200A|ENSG00000207607|Transcript|ENST00000384875|miRNA||||||||||rs7518873|210|1||SNV|HGNC|HGNC:31578|YES|||||||||||||||||0.8001|0.8154|0.7939|0.5595|0.9553|0.8722||||||||||0.8754|0.8206|0.9901|0.8181|0.8747|0.544|0.9217|0.9423|0.9377|0.8651|0.8726|0.9901|gnomADg_AMI||||21686129|||||||||,C|downstream_gene_variant|MODIFIER|MIR200B|ENSG00000207730|Transcript|ENST00000384997|miRNA||||||||||rs7518873|964|1||SNV|HGNC|HGNC:31579|YES|||||||||||||||||0.8001|0.8154|0.7939|0.5595|0.9553|0.8722||||||||||0.8754|0.8206|0.9901|0.8181|0.8747|0.544|0.9217|0.9423|0.9377|0.8651|0.8726|0.9901|gnomADg_AMI||||21686129|||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000272141|Transcript|ENST00000606993|lncRNA||||||||||rs7518873|1195|1||SNV|||YES|||||||||||||||||0.8001|0.8154|0.7939|0.5595|0.9553|0.8722||||||||||0.8754|0.8206|0.9901|0.8181|0.8747|0.544|0.9217|0.9423|0.9377|0.8651|0.8726|0.9901|gnomADg_AMI||||21686129||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 1168578 . T G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|8%2C5;DP=13;ECNT=2;GERMQ=78;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=98;POPAF=7.3;TLOD=47.14;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER|MIR429|ENSG00000198976|Transcript|ENST00000362106|miRNA||||||||||rs7521584|427|1||SNV|HGNC|HGNC:13784|YES|||||||||||||||||0.8163|0.7859|0.8991|0.5952|0.9523|0.8865||||||||||0.8818|0.7973|0.9901|0.9089|0.907|0.6007|0.9233|0.9335|0.9387|0.8849|0.8835|0.9901|gnomADg_AMI||||31231424&29956763&30373632|||||||||,G|downstream_gene_variant|MODIFIER|TTLL10-AS1|ENSG00000205231|Transcript|ENST00000379317|lncRNA||||||||||rs7521584|4478|-1||SNV|HGNC|HGNC:41159|YES|||2||||||||||||||0.8163|0.7859|0.8991|0.5952|0.9523|0.8865||||||||||0.8818|0.7973|0.9901|0.9089|0.907|0.6007|0.9233|0.9335|0.9387|0.8849|0.8835|0.9901|gnomADg_AMI||||31231424&29956763&30373632|||||||||,G|downstream_gene_variant|MODIFIER|MIR200A|ENSG00000207607|Transcript|ENST00000384875|miRNA||||||||||rs7521584|626|1||SNV|HGNC|HGNC:31578|YES|||||||||||||||||0.8163|0.7859|0.8991|0.5952|0.9523|0.8865||||||||||0.8818|0.7973|0.9901|0.9089|0.907|0.6007|0.9233|0.9335|0.9387|0.8849|0.8835|0.9901|gnomADg_AMI||||31231424&29956763&30373632|||||||||,G|downstream_gene_variant|MODIFIER|MIR200B|ENSG00000207730|Transcript|ENST00000384997|miRNA||||||||||rs7521584|1380|1||SNV|HGNC|HGNC:31579|YES|||||||||||||||||0.8163|0.7859|0.8991|0.5952|0.9523|0.8865||||||||||0.8818|0.7973|0.9901|0.9089|0.907|0.6007|0.9233|0.9335|0.9387|0.8849|0.8835|0.9901|gnomADg_AMI||||31231424&29956763&30373632|||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000272141|Transcript|ENST00000606993|lncRNA||||||||||rs7521584|779|1||SNV|||YES|||||||||||||||||0.8163|0.7859|0.8991|0.5952|0.9523|0.8865||||||||||0.8818|0.7973|0.9901|0.9089|0.907|0.6007|0.9233|0.9335|0.9387|0.8849|0.8835|0.9901|gnomADg_AMI||||31231424&29956763&30373632||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,13:0.9:13:0,0:0,8:0,8:0,0,8,5 -chr1 1168578 . T G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=3;GERMQ=52;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=85;POPAF=7.3;TLOD=14.43;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER|MIR429|ENSG00000198976|Transcript|ENST00000362106|miRNA||||||||||rs7521584|427|1||SNV|HGNC|HGNC:13784|YES|||||||||||||||||0.8163|0.7859|0.8991|0.5952|0.9523|0.8865||||||||||0.8818|0.7973|0.9901|0.9089|0.907|0.6007|0.9233|0.9335|0.9387|0.8849|0.8835|0.9901|gnomADg_AMI||||31231424&29956763&30373632|||||||||,G|downstream_gene_variant|MODIFIER|TTLL10-AS1|ENSG00000205231|Transcript|ENST00000379317|lncRNA||||||||||rs7521584|4478|-1||SNV|HGNC|HGNC:41159|YES|||2||||||||||||||0.8163|0.7859|0.8991|0.5952|0.9523|0.8865||||||||||0.8818|0.7973|0.9901|0.9089|0.907|0.6007|0.9233|0.9335|0.9387|0.8849|0.8835|0.9901|gnomADg_AMI||||31231424&29956763&30373632|||||||||,G|downstream_gene_variant|MODIFIER|MIR200A|ENSG00000207607|Transcript|ENST00000384875|miRNA||||||||||rs7521584|626|1||SNV|HGNC|HGNC:31578|YES|||||||||||||||||0.8163|0.7859|0.8991|0.5952|0.9523|0.8865||||||||||0.8818|0.7973|0.9901|0.9089|0.907|0.6007|0.9233|0.9335|0.9387|0.8849|0.8835|0.9901|gnomADg_AMI||||31231424&29956763&30373632|||||||||,G|downstream_gene_variant|MODIFIER|MIR200B|ENSG00000207730|Transcript|ENST00000384997|miRNA||||||||||rs7521584|1380|1||SNV|HGNC|HGNC:31579|YES|||||||||||||||||0.8163|0.7859|0.8991|0.5952|0.9523|0.8865||||||||||0.8818|0.7973|0.9901|0.9089|0.907|0.6007|0.9233|0.9335|0.9387|0.8849|0.8835|0.9901|gnomADg_AMI||||31231424&29956763&30373632|||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000272141|Transcript|ENST00000606993|lncRNA||||||||||rs7521584|779|1||SNV|||YES|||||||||||||||||0.8163|0.7859|0.8991|0.5952|0.9523|0.8865||||||||||0.8818|0.7973|0.9901|0.9089|0.907|0.6007|0.9233|0.9335|0.9387|0.8849|0.8835|0.9901|gnomADg_AMI||||31231424&29956763&30373632||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 1168643 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C5|1%2C1;DP=11;ECNT=2;GERMQ=43;MBQ=35,33;MFRL=0,0;MMQ=60,60;MPOS=100;POPAF=7.3;TLOD=5.8;SRC=custom;GRP=custom;CSQ=T|upstream_gene_variant|MODIFIER|MIR429|ENSG00000198976|Transcript|ENST00000362106|miRNA|||||||||||362|1||SNV|HGNC|HGNC:13784|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|TTLL10-AS1|ENSG00000205231|Transcript|ENST00000379317|lncRNA|||||||||||4413|-1||SNV|HGNC|HGNC:41159|YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|MIR200A|ENSG00000207607|Transcript|ENST00000384875|miRNA|||||||||||691|1||SNV|HGNC|HGNC:31578|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|MIR200B|ENSG00000207730|Transcript|ENST00000384997|miRNA|||||||||||1445|1||SNV|HGNC|HGNC:31579|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000272141|Transcript|ENST00000606993|lncRNA|||||||||||714|1||SNV|||YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,2:0.246:9:0,0:2,1:5,1:2,5,1,1 -chr1 1168643 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=2%2C2|1%2C1;DP=6;ECNT=3;GERMQ=39;MBQ=35,33;MFRL=0,0;MMQ=60,60;MPOS=104;POPAF=7.3;TLOD=6.37;SRC=custom;GRP=custom;CSQ=T|upstream_gene_variant|MODIFIER|MIR429|ENSG00000198976|Transcript|ENST00000362106|miRNA|||||||||||362|1||SNV|HGNC|HGNC:13784|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|TTLL10-AS1|ENSG00000205231|Transcript|ENST00000379317|lncRNA|||||||||||4413|-1||SNV|HGNC|HGNC:41159|YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|MIR200A|ENSG00000207607|Transcript|ENST00000384875|miRNA|||||||||||691|1||SNV|HGNC|HGNC:31578|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|MIR200B|ENSG00000207730|Transcript|ENST00000384997|miRNA|||||||||||1445|1||SNV|HGNC|HGNC:31579|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000272141|Transcript|ENST00000606993|lncRNA|||||||||||714|1||SNV|||YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,2:0.4:6:0,0:2,1:2,1:2,2,1,1 -chr1 1168709 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C1;DP=4;ECNT=3;GERMQ=37;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=89;POPAF=7.3;TLOD=6.68;SRC=custom;GRP=custom;CSQ=T|upstream_gene_variant|MODIFIER|MIR429|ENSG00000198976|Transcript|ENST00000362106|miRNA|||||||||||296|1||SNV|HGNC|HGNC:13784|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|TTLL10-AS1|ENSG00000205231|Transcript|ENST00000379317|lncRNA|||||||||||4347|-1||SNV|HGNC|HGNC:41159|YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|MIR200A|ENSG00000207607|Transcript|ENST00000384875|miRNA|||||||||||757|1||SNV|HGNC|HGNC:31578|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|MIR200B|ENSG00000207730|Transcript|ENST00000384997|miRNA|||||||||||1511|1||SNV|HGNC|HGNC:31579|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000272141|Transcript|ENST00000606993|lncRNA|||||||||||648|1||SNV|||YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.5:4:0,0:1,1:1,1:1,1,1,1 -chr1 1169204 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=36;POPAF=7.3;TLOD=7.35;SRC=custom;GRP=custom;CSQ=C|downstream_gene_variant|MODIFIER|MIR429|ENSG00000198976|Transcript|ENST00000362106|miRNA||||||||||rs112695918|117|1||SNV|HGNC|HGNC:13784|YES|||||||||||||||||0.0739|0.1498|0.0216|0.0208|0.0298|0.1084||||||||||0.05916|0.1353|0.08681|0.03298|0.02421|0.01405|0.02542|0.03165|0.02699|0.04732|0.09179|0.1498|AFR||||31231424&30373632|||||||||,C|upstream_gene_variant|MODIFIER|TTLL10|ENSG00000162571|Transcript|ENST00000379289|protein_coding||||||||||rs112695918|4676|1||SNV|HGNC|HGNC:26693|YES|NM_001130045.2||2|P1|CCDS44036.1|ENSP00000368591|Q6ZVT0.143||UPI0000205ADB|Q6ZVT0-1|||||||0.0739|0.1498|0.0216|0.0208|0.0298|0.1084||||||||||0.05916|0.1353|0.08681|0.03298|0.02421|0.01405|0.02542|0.03165|0.02699|0.04732|0.09179|0.1498|AFR||||31231424&30373632|||||||MDHSCTRFIHRRGPPTRTRAGFKRGKRPRIQQRPRARVSGTIPASRLHPAPASQPGPCPAPGHCPVGPAHERPMGSSQEEGLRCQPSQPDHDADGHCGPDLEGAERASATPGPPGLLNSHRPADSDDTNAAGPSAALLEGLLLGGGKPSPHSTRPGPFFYIGGSNGATIISSYCKSKGWQRIHDSRRDDYTLKWCEVKSRDSYGSFREGEQLLYQLPNNKLLTTKIGLLSTLRGRARAMSKASKVPGGVQARLEKDAAAPALEDLPWTSPGYLRPQRVLRMEEFFPETYRLDLKHEREAFFTLFDETQIWICKPTASNQGKGIFLLRNQEEVAALQAKTRSMEDDPIHHKTPFRGPQARVVQRYIQNPLLVDGRKFDVRSYLLIACTTPYMIFFGHGYARLTLSLYDPHSSDLGGHLTNQFMQKKSPLYMLLKEHTVWSMEHLNRYISDTFWKARGLAKDWVFTTLKKRMQQIMAHCFLAAKPKLDCKLGYFDLIGCDFLIDDNFKVWLLEMNSNPALHTNCEVLKEVIPGVVIETLDLVLETFRKSLRGQKMLPLLSQRRFVLLHNGEADPRPHLGGSCSLRRWPPLPTRQAKSSGPPMPHAPDQPGARRPAPPPLVPQRPRPPGPDLDSAHDGEPQAPGTEQSGTGNRHPAQEPSPGTAKEEREEPENARP||,C|upstream_gene_variant|MODIFIER|TTLL10|ENSG00000162571|Transcript|ENST00000379290|protein_coding||||||||||rs112695918|4676|1||SNV|HGNC|HGNC:26693||||1|P1|CCDS44036.1|ENSP00000368592|Q6ZVT0.143||UPI0000205ADB|Q6ZVT0-1|||||||0.0739|0.1498|0.0216|0.0208|0.0298|0.1084||||||||||0.05916|0.1353|0.08681|0.03298|0.02421|0.01405|0.02542|0.03165|0.02699|0.04732|0.09179|0.1498|AFR||||31231424&30373632|||||||MDHSCTRFIHRRGPPTRTRAGFKRGKRPRIQQRPRARVSGTIPASRLHPAPASQPGPCPAPGHCPVGPAHERPMGSSQEEGLRCQPSQPDHDADGHCGPDLEGAERASATPGPPGLLNSHRPADSDDTNAAGPSAALLEGLLLGGGKPSPHSTRPGPFFYIGGSNGATIISSYCKSKGWQRIHDSRRDDYTLKWCEVKSRDSYGSFREGEQLLYQLPNNKLLTTKIGLLSTLRGRARAMSKASKVPGGVQARLEKDAAAPALEDLPWTSPGYLRPQRVLRMEEFFPETYRLDLKHEREAFFTLFDETQIWICKPTASNQGKGIFLLRNQEEVAALQAKTRSMEDDPIHHKTPFRGPQARVVQRYIQNPLLVDGRKFDVRSYLLIACTTPYMIFFGHGYARLTLSLYDPHSSDLGGHLTNQFMQKKSPLYMLLKEHTVWSMEHLNRYISDTFWKARGLAKDWVFTTLKKRMQQIMAHCFLAAKPKLDCKLGYFDLIGCDFLIDDNFKVWLLEMNSNPALHTNCEVLKEVIPGVVIETLDLVLETFRKSLRGQKMLPLLSQRRFVLLHNGEADPRPHLGGSCSLRRWPPLPTRQAKSSGPPMPHAPDQPGARRPAPPPLVPQRPRPPGPDLDSAHDGEPQAPGTEQSGTGNRHPAQEPSPGTAKEEREEPENARP||,C|downstream_gene_variant|MODIFIER|TTLL10-AS1|ENSG00000205231|Transcript|ENST00000379317|lncRNA||||||||||rs112695918|3852|-1||SNV|HGNC|HGNC:41159|YES|||2||||||||||||||0.0739|0.1498|0.0216|0.0208|0.0298|0.1084||||||||||0.05916|0.1353|0.08681|0.03298|0.02421|0.01405|0.02542|0.03165|0.02699|0.04732|0.09179|0.1498|AFR||||31231424&30373632|||||||||,C|downstream_gene_variant|MODIFIER|MIR200A|ENSG00000207607|Transcript|ENST00000384875|miRNA||||||||||rs112695918|1252|1||SNV|HGNC|HGNC:31578|YES|||||||||||||||||0.0739|0.1498|0.0216|0.0208|0.0298|0.1084||||||||||0.05916|0.1353|0.08681|0.03298|0.02421|0.01405|0.02542|0.03165|0.02699|0.04732|0.09179|0.1498|AFR||||31231424&30373632|||||||||,C|downstream_gene_variant|MODIFIER|MIR200B|ENSG00000207730|Transcript|ENST00000384997|miRNA||||||||||rs112695918|2006|1||SNV|HGNC|HGNC:31579|YES|||||||||||||||||0.0739|0.1498|0.0216|0.0208|0.0298|0.1084||||||||||0.05916|0.1353|0.08681|0.03298|0.02421|0.01405|0.02542|0.03165|0.02699|0.04732|0.09179|0.1498|AFR||||31231424&30373632|||||||||,C|upstream_gene_variant|MODIFIER|TTLL10|ENSG00000162571|Transcript|ENST00000506177|protein_coding_CDS_not_defined||||||||||rs112695918|4680|1||SNV|HGNC|HGNC:26693||||4||||||||||||||0.0739|0.1498|0.0216|0.0208|0.0298|0.1084||||||||||0.05916|0.1353|0.08681|0.03298|0.02421|0.01405|0.02542|0.03165|0.02699|0.04732|0.09179|0.1498|AFR||||31231424&30373632|||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000272141|Transcript|ENST00000606993|lncRNA||||||||||rs112695918|153|1||SNV|||YES|||||||||||||||||0.0739|0.1498|0.0216|0.0208|0.0298|0.1084||||||||||0.05916|0.1353|0.08681|0.03298|0.02421|0.01405|0.02542|0.03165|0.02699|0.04732|0.09179|0.1498|AFR||||31231424&30373632|||||||||,C|upstream_gene_variant|MODIFIER|TTLL10|ENSG00000162571|Transcript|ENST00000673999|protein_coding||||||||||rs112695918|4694|1|cds_end_NF|SNV|HGNC|HGNC:26693|||||||ENSP00000500959||A0A669K9N4.10|UPI001348EF10||||||||0.0739|0.1498|0.0216|0.0208|0.0298|0.1084||||||||||0.05916|0.1353|0.08681|0.03298|0.02421|0.01405|0.02542|0.03165|0.02699|0.04732|0.09179|0.1498|AFR||||31231424&30373632|||||||MDHSCTRFIHRRGPPTRTRAGFKRGKRPRIQQRPRARVSGTIPASRLHPAPASQPGPCPAPGHCPVGPAHERPMGSSQEEGLRCQPSQPDHDADGHCGPDLEGAERASATPGP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1169204 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C2|2%2C1;DP=6;ECNT=1;GERMQ=37;MBQ=33,35;MFRL=0,0;MMQ=60,60;MPOS=35;POPAF=7.3;TLOD=10.15;SRC=custom;GRP=custom;CSQ=C|downstream_gene_variant|MODIFIER|MIR429|ENSG00000198976|Transcript|ENST00000362106|miRNA||||||||||rs112695918|117|1||SNV|HGNC|HGNC:13784|YES|||||||||||||||||0.0739|0.1498|0.0216|0.0208|0.0298|0.1084||||||||||0.05916|0.1353|0.08681|0.03298|0.02421|0.01405|0.02542|0.03165|0.02699|0.04732|0.09179|0.1498|AFR||||31231424&30373632|||||||||,C|upstream_gene_variant|MODIFIER|TTLL10|ENSG00000162571|Transcript|ENST00000379289|protein_coding||||||||||rs112695918|4676|1||SNV|HGNC|HGNC:26693|YES|NM_001130045.2||2|P1|CCDS44036.1|ENSP00000368591|Q6ZVT0.143||UPI0000205ADB|Q6ZVT0-1|||||||0.0739|0.1498|0.0216|0.0208|0.0298|0.1084||||||||||0.05916|0.1353|0.08681|0.03298|0.02421|0.01405|0.02542|0.03165|0.02699|0.04732|0.09179|0.1498|AFR||||31231424&30373632|||||||MDHSCTRFIHRRGPPTRTRAGFKRGKRPRIQQRPRARVSGTIPASRLHPAPASQPGPCPAPGHCPVGPAHERPMGSSQEEGLRCQPSQPDHDADGHCGPDLEGAERASATPGPPGLLNSHRPADSDDTNAAGPSAALLEGLLLGGGKPSPHSTRPGPFFYIGGSNGATIISSYCKSKGWQRIHDSRRDDYTLKWCEVKSRDSYGSFREGEQLLYQLPNNKLLTTKIGLLSTLRGRARAMSKASKVPGGVQARLEKDAAAPALEDLPWTSPGYLRPQRVLRMEEFFPETYRLDLKHEREAFFTLFDETQIWICKPTASNQGKGIFLLRNQEEVAALQAKTRSMEDDPIHHKTPFRGPQARVVQRYIQNPLLVDGRKFDVRSYLLIACTTPYMIFFGHGYARLTLSLYDPHSSDLGGHLTNQFMQKKSPLYMLLKEHTVWSMEHLNRYISDTFWKARGLAKDWVFTTLKKRMQQIMAHCFLAAKPKLDCKLGYFDLIGCDFLIDDNFKVWLLEMNSNPALHTNCEVLKEVIPGVVIETLDLVLETFRKSLRGQKMLPLLSQRRFVLLHNGEADPRPHLGGSCSLRRWPPLPTRQAKSSGPPMPHAPDQPGARRPAPPPLVPQRPRPPGPDLDSAHDGEPQAPGTEQSGTGNRHPAQEPSPGTAKEEREEPENARP||,C|upstream_gene_variant|MODIFIER|TTLL10|ENSG00000162571|Transcript|ENST00000379290|protein_coding||||||||||rs112695918|4676|1||SNV|HGNC|HGNC:26693||||1|P1|CCDS44036.1|ENSP00000368592|Q6ZVT0.143||UPI0000205ADB|Q6ZVT0-1|||||||0.0739|0.1498|0.0216|0.0208|0.0298|0.1084||||||||||0.05916|0.1353|0.08681|0.03298|0.02421|0.01405|0.02542|0.03165|0.02699|0.04732|0.09179|0.1498|AFR||||31231424&30373632|||||||MDHSCTRFIHRRGPPTRTRAGFKRGKRPRIQQRPRARVSGTIPASRLHPAPASQPGPCPAPGHCPVGPAHERPMGSSQEEGLRCQPSQPDHDADGHCGPDLEGAERASATPGPPGLLNSHRPADSDDTNAAGPSAALLEGLLLGGGKPSPHSTRPGPFFYIGGSNGATIISSYCKSKGWQRIHDSRRDDYTLKWCEVKSRDSYGSFREGEQLLYQLPNNKLLTTKIGLLSTLRGRARAMSKASKVPGGVQARLEKDAAAPALEDLPWTSPGYLRPQRVLRMEEFFPETYRLDLKHEREAFFTLFDETQIWICKPTASNQGKGIFLLRNQEEVAALQAKTRSMEDDPIHHKTPFRGPQARVVQRYIQNPLLVDGRKFDVRSYLLIACTTPYMIFFGHGYARLTLSLYDPHSSDLGGHLTNQFMQKKSPLYMLLKEHTVWSMEHLNRYISDTFWKARGLAKDWVFTTLKKRMQQIMAHCFLAAKPKLDCKLGYFDLIGCDFLIDDNFKVWLLEMNSNPALHTNCEVLKEVIPGVVIETLDLVLETFRKSLRGQKMLPLLSQRRFVLLHNGEADPRPHLGGSCSLRRWPPLPTRQAKSSGPPMPHAPDQPGARRPAPPPLVPQRPRPPGPDLDSAHDGEPQAPGTEQSGTGNRHPAQEPSPGTAKEEREEPENARP||,C|downstream_gene_variant|MODIFIER|TTLL10-AS1|ENSG00000205231|Transcript|ENST00000379317|lncRNA||||||||||rs112695918|3852|-1||SNV|HGNC|HGNC:41159|YES|||2||||||||||||||0.0739|0.1498|0.0216|0.0208|0.0298|0.1084||||||||||0.05916|0.1353|0.08681|0.03298|0.02421|0.01405|0.02542|0.03165|0.02699|0.04732|0.09179|0.1498|AFR||||31231424&30373632|||||||||,C|downstream_gene_variant|MODIFIER|MIR200A|ENSG00000207607|Transcript|ENST00000384875|miRNA||||||||||rs112695918|1252|1||SNV|HGNC|HGNC:31578|YES|||||||||||||||||0.0739|0.1498|0.0216|0.0208|0.0298|0.1084||||||||||0.05916|0.1353|0.08681|0.03298|0.02421|0.01405|0.02542|0.03165|0.02699|0.04732|0.09179|0.1498|AFR||||31231424&30373632|||||||||,C|downstream_gene_variant|MODIFIER|MIR200B|ENSG00000207730|Transcript|ENST00000384997|miRNA||||||||||rs112695918|2006|1||SNV|HGNC|HGNC:31579|YES|||||||||||||||||0.0739|0.1498|0.0216|0.0208|0.0298|0.1084||||||||||0.05916|0.1353|0.08681|0.03298|0.02421|0.01405|0.02542|0.03165|0.02699|0.04732|0.09179|0.1498|AFR||||31231424&30373632|||||||||,C|upstream_gene_variant|MODIFIER|TTLL10|ENSG00000162571|Transcript|ENST00000506177|protein_coding_CDS_not_defined||||||||||rs112695918|4680|1||SNV|HGNC|HGNC:26693||||4||||||||||||||0.0739|0.1498|0.0216|0.0208|0.0298|0.1084||||||||||0.05916|0.1353|0.08681|0.03298|0.02421|0.01405|0.02542|0.03165|0.02699|0.04732|0.09179|0.1498|AFR||||31231424&30373632|||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000272141|Transcript|ENST00000606993|lncRNA||||||||||rs112695918|153|1||SNV|||YES|||||||||||||||||0.0739|0.1498|0.0216|0.0208|0.0298|0.1084||||||||||0.05916|0.1353|0.08681|0.03298|0.02421|0.01405|0.02542|0.03165|0.02699|0.04732|0.09179|0.1498|AFR||||31231424&30373632|||||||||,C|upstream_gene_variant|MODIFIER|TTLL10|ENSG00000162571|Transcript|ENST00000673999|protein_coding||||||||||rs112695918|4694|1|cds_end_NF|SNV|HGNC|HGNC:26693|||||||ENSP00000500959||A0A669K9N4.10|UPI001348EF10||||||||0.0739|0.1498|0.0216|0.0208|0.0298|0.1084||||||||||0.05916|0.1353|0.08681|0.03298|0.02421|0.01405|0.02542|0.03165|0.02699|0.04732|0.09179|0.1498|AFR||||31231424&30373632|||||||MDHSCTRFIHRRGPPTRTRAGFKRGKRPRIQQRPRARVSGTIPASRLHPAPASQPGPCPAPGHCPVGPAHERPMGSSQEEGLRCQPSQPDHDADGHCGPDLEGAERASATPGP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,3:0.5:6:1,0:1,2:2,2:1,2,2,1 -chr1 1169591 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C1|3%2C2;DP=6;ECNT=1;GERMQ=41;MBQ=29,31;MFRL=0,0;MMQ=60,60;MPOS=109;POPAF=7.3;TLOD=16.48;SRC=custom;GRP=custom;CSQ=A|downstream_gene_variant|MODIFIER|MIR429|ENSG00000198976|Transcript|ENST00000362106|miRNA|||||||||||504|1||SNV|HGNC|HGNC:13784|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|TTLL10|ENSG00000162571|Transcript|ENST00000379289|protein_coding|||||||||||4289|1||SNV|HGNC|HGNC:26693|YES|NM_001130045.2||2|P1|CCDS44036.1|ENSP00000368591|Q6ZVT0.143||UPI0000205ADB|Q6ZVT0-1|||||||||||||||||||||||||||||||||||||||||||||MDHSCTRFIHRRGPPTRTRAGFKRGKRPRIQQRPRARVSGTIPASRLHPAPASQPGPCPAPGHCPVGPAHERPMGSSQEEGLRCQPSQPDHDADGHCGPDLEGAERASATPGPPGLLNSHRPADSDDTNAAGPSAALLEGLLLGGGKPSPHSTRPGPFFYIGGSNGATIISSYCKSKGWQRIHDSRRDDYTLKWCEVKSRDSYGSFREGEQLLYQLPNNKLLTTKIGLLSTLRGRARAMSKASKVPGGVQARLEKDAAAPALEDLPWTSPGYLRPQRVLRMEEFFPETYRLDLKHEREAFFTLFDETQIWICKPTASNQGKGIFLLRNQEEVAALQAKTRSMEDDPIHHKTPFRGPQARVVQRYIQNPLLVDGRKFDVRSYLLIACTTPYMIFFGHGYARLTLSLYDPHSSDLGGHLTNQFMQKKSPLYMLLKEHTVWSMEHLNRYISDTFWKARGLAKDWVFTTLKKRMQQIMAHCFLAAKPKLDCKLGYFDLIGCDFLIDDNFKVWLLEMNSNPALHTNCEVLKEVIPGVVIETLDLVLETFRKSLRGQKMLPLLSQRRFVLLHNGEADPRPHLGGSCSLRRWPPLPTRQAKSSGPPMPHAPDQPGARRPAPPPLVPQRPRPPGPDLDSAHDGEPQAPGTEQSGTGNRHPAQEPSPGTAKEEREEPENARP||,A|upstream_gene_variant|MODIFIER|TTLL10|ENSG00000162571|Transcript|ENST00000379290|protein_coding|||||||||||4289|1||SNV|HGNC|HGNC:26693||||1|P1|CCDS44036.1|ENSP00000368592|Q6ZVT0.143||UPI0000205ADB|Q6ZVT0-1|||||||||||||||||||||||||||||||||||||||||||||MDHSCTRFIHRRGPPTRTRAGFKRGKRPRIQQRPRARVSGTIPASRLHPAPASQPGPCPAPGHCPVGPAHERPMGSSQEEGLRCQPSQPDHDADGHCGPDLEGAERASATPGPPGLLNSHRPADSDDTNAAGPSAALLEGLLLGGGKPSPHSTRPGPFFYIGGSNGATIISSYCKSKGWQRIHDSRRDDYTLKWCEVKSRDSYGSFREGEQLLYQLPNNKLLTTKIGLLSTLRGRARAMSKASKVPGGVQARLEKDAAAPALEDLPWTSPGYLRPQRVLRMEEFFPETYRLDLKHEREAFFTLFDETQIWICKPTASNQGKGIFLLRNQEEVAALQAKTRSMEDDPIHHKTPFRGPQARVVQRYIQNPLLVDGRKFDVRSYLLIACTTPYMIFFGHGYARLTLSLYDPHSSDLGGHLTNQFMQKKSPLYMLLKEHTVWSMEHLNRYISDTFWKARGLAKDWVFTTLKKRMQQIMAHCFLAAKPKLDCKLGYFDLIGCDFLIDDNFKVWLLEMNSNPALHTNCEVLKEVIPGVVIETLDLVLETFRKSLRGQKMLPLLSQRRFVLLHNGEADPRPHLGGSCSLRRWPPLPTRQAKSSGPPMPHAPDQPGARRPAPPPLVPQRPRPPGPDLDSAHDGEPQAPGTEQSGTGNRHPAQEPSPGTAKEEREEPENARP||,A|downstream_gene_variant|MODIFIER|TTLL10-AS1|ENSG00000205231|Transcript|ENST00000379317|lncRNA|||||||||||3465|-1||SNV|HGNC|HGNC:41159|YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|MIR200A|ENSG00000207607|Transcript|ENST00000384875|miRNA|||||||||||1639|1||SNV|HGNC|HGNC:31578|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|MIR200B|ENSG00000207730|Transcript|ENST00000384997|miRNA|||||||||||2393|1||SNV|HGNC|HGNC:31579|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|TTLL10|ENSG00000162571|Transcript|ENST00000506177|protein_coding_CDS_not_defined|||||||||||4293|1||SNV|HGNC|HGNC:26693||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000272141|Transcript|ENST00000606993|lncRNA|1/1||ENST00000606993.1:n.235C>A||235|||||||1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|TTLL10|ENSG00000162571|Transcript|ENST00000673999|protein_coding|||||||||||4307|1|cds_end_NF|SNV|HGNC|HGNC:26693|||||||ENSP00000500959||A0A669K9N4.10|UPI001348EF10||||||||||||||||||||||||||||||||||||||||||||||MDHSCTRFIHRRGPPTRTRAGFKRGKRPRIQQRPRARVSGTIPASRLHPAPASQPGPCPAPGHCPVGPAHERPMGSSQEEGLRCQPSQPDHDADGHCGPDLEGAERASATPGP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,5:0.667:6:0,0:0,3:1,3:0,1,3,2 -chr1 1169591 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=93;POPAF=7.3;TLOD=7.05;SRC=custom;GRP=custom;CSQ=A|downstream_gene_variant|MODIFIER|MIR429|ENSG00000198976|Transcript|ENST00000362106|miRNA|||||||||||504|1||SNV|HGNC|HGNC:13784|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|TTLL10|ENSG00000162571|Transcript|ENST00000379289|protein_coding|||||||||||4289|1||SNV|HGNC|HGNC:26693|YES|NM_001130045.2||2|P1|CCDS44036.1|ENSP00000368591|Q6ZVT0.143||UPI0000205ADB|Q6ZVT0-1|||||||||||||||||||||||||||||||||||||||||||||MDHSCTRFIHRRGPPTRTRAGFKRGKRPRIQQRPRARVSGTIPASRLHPAPASQPGPCPAPGHCPVGPAHERPMGSSQEEGLRCQPSQPDHDADGHCGPDLEGAERASATPGPPGLLNSHRPADSDDTNAAGPSAALLEGLLLGGGKPSPHSTRPGPFFYIGGSNGATIISSYCKSKGWQRIHDSRRDDYTLKWCEVKSRDSYGSFREGEQLLYQLPNNKLLTTKIGLLSTLRGRARAMSKASKVPGGVQARLEKDAAAPALEDLPWTSPGYLRPQRVLRMEEFFPETYRLDLKHEREAFFTLFDETQIWICKPTASNQGKGIFLLRNQEEVAALQAKTRSMEDDPIHHKTPFRGPQARVVQRYIQNPLLVDGRKFDVRSYLLIACTTPYMIFFGHGYARLTLSLYDPHSSDLGGHLTNQFMQKKSPLYMLLKEHTVWSMEHLNRYISDTFWKARGLAKDWVFTTLKKRMQQIMAHCFLAAKPKLDCKLGYFDLIGCDFLIDDNFKVWLLEMNSNPALHTNCEVLKEVIPGVVIETLDLVLETFRKSLRGQKMLPLLSQRRFVLLHNGEADPRPHLGGSCSLRRWPPLPTRQAKSSGPPMPHAPDQPGARRPAPPPLVPQRPRPPGPDLDSAHDGEPQAPGTEQSGTGNRHPAQEPSPGTAKEEREEPENARP||,A|upstream_gene_variant|MODIFIER|TTLL10|ENSG00000162571|Transcript|ENST00000379290|protein_coding|||||||||||4289|1||SNV|HGNC|HGNC:26693||||1|P1|CCDS44036.1|ENSP00000368592|Q6ZVT0.143||UPI0000205ADB|Q6ZVT0-1|||||||||||||||||||||||||||||||||||||||||||||MDHSCTRFIHRRGPPTRTRAGFKRGKRPRIQQRPRARVSGTIPASRLHPAPASQPGPCPAPGHCPVGPAHERPMGSSQEEGLRCQPSQPDHDADGHCGPDLEGAERASATPGPPGLLNSHRPADSDDTNAAGPSAALLEGLLLGGGKPSPHSTRPGPFFYIGGSNGATIISSYCKSKGWQRIHDSRRDDYTLKWCEVKSRDSYGSFREGEQLLYQLPNNKLLTTKIGLLSTLRGRARAMSKASKVPGGVQARLEKDAAAPALEDLPWTSPGYLRPQRVLRMEEFFPETYRLDLKHEREAFFTLFDETQIWICKPTASNQGKGIFLLRNQEEVAALQAKTRSMEDDPIHHKTPFRGPQARVVQRYIQNPLLVDGRKFDVRSYLLIACTTPYMIFFGHGYARLTLSLYDPHSSDLGGHLTNQFMQKKSPLYMLLKEHTVWSMEHLNRYISDTFWKARGLAKDWVFTTLKKRMQQIMAHCFLAAKPKLDCKLGYFDLIGCDFLIDDNFKVWLLEMNSNPALHTNCEVLKEVIPGVVIETLDLVLETFRKSLRGQKMLPLLSQRRFVLLHNGEADPRPHLGGSCSLRRWPPLPTRQAKSSGPPMPHAPDQPGARRPAPPPLVPQRPRPPGPDLDSAHDGEPQAPGTEQSGTGNRHPAQEPSPGTAKEEREEPENARP||,A|downstream_gene_variant|MODIFIER|TTLL10-AS1|ENSG00000205231|Transcript|ENST00000379317|lncRNA|||||||||||3465|-1||SNV|HGNC|HGNC:41159|YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|MIR200A|ENSG00000207607|Transcript|ENST00000384875|miRNA|||||||||||1639|1||SNV|HGNC|HGNC:31578|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|MIR200B|ENSG00000207730|Transcript|ENST00000384997|miRNA|||||||||||2393|1||SNV|HGNC|HGNC:31579|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|TTLL10|ENSG00000162571|Transcript|ENST00000506177|protein_coding_CDS_not_defined|||||||||||4293|1||SNV|HGNC|HGNC:26693||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000272141|Transcript|ENST00000606993|lncRNA|1/1||ENST00000606993.1:n.235C>A||235|||||||1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|TTLL10|ENSG00000162571|Transcript|ENST00000673999|protein_coding|||||||||||4307|1|cds_end_NF|SNV|HGNC|HGNC:26693|||||||ENSP00000500959||A0A669K9N4.10|UPI001348EF10||||||||||||||||||||||||||||||||||||||||||||||MDHSCTRFIHRRGPPTRTRAGFKRGKRPRIQQRPRARVSGTIPASRLHPAPASQPGPCPAPGHCPVGPAHERPMGSSQEEGLRCQPSQPDHDADGHCGPDLEGAERASATPGP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1169858 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=1;GERMQ=49;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=123;POPAF=7.3;TLOD=10.75;SRC=custom;GRP=custom;CSQ=C|downstream_gene_variant|MODIFIER|MIR429|ENSG00000198976|Transcript|ENST00000362106|miRNA||||||||||rs9442362|771|1||SNV|HGNC|HGNC:13784|YES|||||||||||||||||0.3335|0.447|0.4092|0.0754|0.3111|0.4151||||||||||0.3389|0.4054|0.4112|0.4023|0.3193|0.0586|0.2628|0.3196|0.3136|0.3284|0.398|0.447|AFR|||||||||||||,C|upstream_gene_variant|MODIFIER|TTLL10|ENSG00000162571|Transcript|ENST00000379289|protein_coding||||||||||rs9442362|4022|1||SNV|HGNC|HGNC:26693|YES|NM_001130045.2||2|P1|CCDS44036.1|ENSP00000368591|Q6ZVT0.143||UPI0000205ADB|Q6ZVT0-1|||||||0.3335|0.447|0.4092|0.0754|0.3111|0.4151||||||||||0.3389|0.4054|0.4112|0.4023|0.3193|0.0586|0.2628|0.3196|0.3136|0.3284|0.398|0.447|AFR|||||||||||MDHSCTRFIHRRGPPTRTRAGFKRGKRPRIQQRPRARVSGTIPASRLHPAPASQPGPCPAPGHCPVGPAHERPMGSSQEEGLRCQPSQPDHDADGHCGPDLEGAERASATPGPPGLLNSHRPADSDDTNAAGPSAALLEGLLLGGGKPSPHSTRPGPFFYIGGSNGATIISSYCKSKGWQRIHDSRRDDYTLKWCEVKSRDSYGSFREGEQLLYQLPNNKLLTTKIGLLSTLRGRARAMSKASKVPGGVQARLEKDAAAPALEDLPWTSPGYLRPQRVLRMEEFFPETYRLDLKHEREAFFTLFDETQIWICKPTASNQGKGIFLLRNQEEVAALQAKTRSMEDDPIHHKTPFRGPQARVVQRYIQNPLLVDGRKFDVRSYLLIACTTPYMIFFGHGYARLTLSLYDPHSSDLGGHLTNQFMQKKSPLYMLLKEHTVWSMEHLNRYISDTFWKARGLAKDWVFTTLKKRMQQIMAHCFLAAKPKLDCKLGYFDLIGCDFLIDDNFKVWLLEMNSNPALHTNCEVLKEVIPGVVIETLDLVLETFRKSLRGQKMLPLLSQRRFVLLHNGEADPRPHLGGSCSLRRWPPLPTRQAKSSGPPMPHAPDQPGARRPAPPPLVPQRPRPPGPDLDSAHDGEPQAPGTEQSGTGNRHPAQEPSPGTAKEEREEPENARP||,C|upstream_gene_variant|MODIFIER|TTLL10|ENSG00000162571|Transcript|ENST00000379290|protein_coding||||||||||rs9442362|4022|1||SNV|HGNC|HGNC:26693||||1|P1|CCDS44036.1|ENSP00000368592|Q6ZVT0.143||UPI0000205ADB|Q6ZVT0-1|||||||0.3335|0.447|0.4092|0.0754|0.3111|0.4151||||||||||0.3389|0.4054|0.4112|0.4023|0.3193|0.0586|0.2628|0.3196|0.3136|0.3284|0.398|0.447|AFR|||||||||||MDHSCTRFIHRRGPPTRTRAGFKRGKRPRIQQRPRARVSGTIPASRLHPAPASQPGPCPAPGHCPVGPAHERPMGSSQEEGLRCQPSQPDHDADGHCGPDLEGAERASATPGPPGLLNSHRPADSDDTNAAGPSAALLEGLLLGGGKPSPHSTRPGPFFYIGGSNGATIISSYCKSKGWQRIHDSRRDDYTLKWCEVKSRDSYGSFREGEQLLYQLPNNKLLTTKIGLLSTLRGRARAMSKASKVPGGVQARLEKDAAAPALEDLPWTSPGYLRPQRVLRMEEFFPETYRLDLKHEREAFFTLFDETQIWICKPTASNQGKGIFLLRNQEEVAALQAKTRSMEDDPIHHKTPFRGPQARVVQRYIQNPLLVDGRKFDVRSYLLIACTTPYMIFFGHGYARLTLSLYDPHSSDLGGHLTNQFMQKKSPLYMLLKEHTVWSMEHLNRYISDTFWKARGLAKDWVFTTLKKRMQQIMAHCFLAAKPKLDCKLGYFDLIGCDFLIDDNFKVWLLEMNSNPALHTNCEVLKEVIPGVVIETLDLVLETFRKSLRGQKMLPLLSQRRFVLLHNGEADPRPHLGGSCSLRRWPPLPTRQAKSSGPPMPHAPDQPGARRPAPPPLVPQRPRPPGPDLDSAHDGEPQAPGTEQSGTGNRHPAQEPSPGTAKEEREEPENARP||,C|downstream_gene_variant|MODIFIER|TTLL10-AS1|ENSG00000205231|Transcript|ENST00000379317|lncRNA||||||||||rs9442362|3198|-1||SNV|HGNC|HGNC:41159|YES|||2||||||||||||||0.3335|0.447|0.4092|0.0754|0.3111|0.4151||||||||||0.3389|0.4054|0.4112|0.4023|0.3193|0.0586|0.2628|0.3196|0.3136|0.3284|0.398|0.447|AFR|||||||||||||,C|downstream_gene_variant|MODIFIER|MIR200A|ENSG00000207607|Transcript|ENST00000384875|miRNA||||||||||rs9442362|1906|1||SNV|HGNC|HGNC:31578|YES|||||||||||||||||0.3335|0.447|0.4092|0.0754|0.3111|0.4151||||||||||0.3389|0.4054|0.4112|0.4023|0.3193|0.0586|0.2628|0.3196|0.3136|0.3284|0.398|0.447|AFR|||||||||||||,C|downstream_gene_variant|MODIFIER|MIR200B|ENSG00000207730|Transcript|ENST00000384997|miRNA||||||||||rs9442362|2660|1||SNV|HGNC|HGNC:31579|YES|||||||||||||||||0.3335|0.447|0.4092|0.0754|0.3111|0.4151||||||||||0.3389|0.4054|0.4112|0.4023|0.3193|0.0586|0.2628|0.3196|0.3136|0.3284|0.398|0.447|AFR|||||||||||||,C|upstream_gene_variant|MODIFIER|TTLL10|ENSG00000162571|Transcript|ENST00000506177|protein_coding_CDS_not_defined||||||||||rs9442362|4026|1||SNV|HGNC|HGNC:26693||||4||||||||||||||0.3335|0.447|0.4092|0.0754|0.3111|0.4151||||||||||0.3389|0.4054|0.4112|0.4023|0.3193|0.0586|0.2628|0.3196|0.3136|0.3284|0.398|0.447|AFR|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000272141|Transcript|ENST00000606993|lncRNA|1/1||ENST00000606993.1:n.502T>C||502|||||rs9442362||1||SNV|||YES|||||||||||||||||0.3335|0.447|0.4092|0.0754|0.3111|0.4151||||||||||0.3389|0.4054|0.4112|0.4023|0.3193|0.0586|0.2628|0.3196|0.3136|0.3284|0.398|0.447|AFR|||||||||||||,C|upstream_gene_variant|MODIFIER|TTLL10|ENSG00000162571|Transcript|ENST00000673999|protein_coding||||||||||rs9442362|4040|1|cds_end_NF|SNV|HGNC|HGNC:26693|||||||ENSP00000500959||A0A669K9N4.10|UPI001348EF10||||||||0.3335|0.447|0.4092|0.0754|0.3111|0.4151||||||||||0.3389|0.4054|0.4112|0.4023|0.3193|0.0586|0.2628|0.3196|0.3136|0.3284|0.398|0.447|AFR|||||||||||MDHSCTRFIHRRGPPTRTRAGFKRGKRPRIQQRPRARVSGTIPASRLHPAPASQPGPCPAPGHCPVGPAHERPMGSSQEEGLRCQPSQPDHDADGHCGPDLEGAERASATPGP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,1:0,1:0,2:0,0,1,2 -chr1 1169858 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=1;GERMQ=52;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=69;POPAF=7.3;TLOD=14.23;SRC=custom;GRP=custom;CSQ=C|downstream_gene_variant|MODIFIER|MIR429|ENSG00000198976|Transcript|ENST00000362106|miRNA||||||||||rs9442362|771|1||SNV|HGNC|HGNC:13784|YES|||||||||||||||||0.3335|0.447|0.4092|0.0754|0.3111|0.4151||||||||||0.3389|0.4054|0.4112|0.4023|0.3193|0.0586|0.2628|0.3196|0.3136|0.3284|0.398|0.447|AFR|||||||||||||,C|upstream_gene_variant|MODIFIER|TTLL10|ENSG00000162571|Transcript|ENST00000379289|protein_coding||||||||||rs9442362|4022|1||SNV|HGNC|HGNC:26693|YES|NM_001130045.2||2|P1|CCDS44036.1|ENSP00000368591|Q6ZVT0.143||UPI0000205ADB|Q6ZVT0-1|||||||0.3335|0.447|0.4092|0.0754|0.3111|0.4151||||||||||0.3389|0.4054|0.4112|0.4023|0.3193|0.0586|0.2628|0.3196|0.3136|0.3284|0.398|0.447|AFR|||||||||||MDHSCTRFIHRRGPPTRTRAGFKRGKRPRIQQRPRARVSGTIPASRLHPAPASQPGPCPAPGHCPVGPAHERPMGSSQEEGLRCQPSQPDHDADGHCGPDLEGAERASATPGPPGLLNSHRPADSDDTNAAGPSAALLEGLLLGGGKPSPHSTRPGPFFYIGGSNGATIISSYCKSKGWQRIHDSRRDDYTLKWCEVKSRDSYGSFREGEQLLYQLPNNKLLTTKIGLLSTLRGRARAMSKASKVPGGVQARLEKDAAAPALEDLPWTSPGYLRPQRVLRMEEFFPETYRLDLKHEREAFFTLFDETQIWICKPTASNQGKGIFLLRNQEEVAALQAKTRSMEDDPIHHKTPFRGPQARVVQRYIQNPLLVDGRKFDVRSYLLIACTTPYMIFFGHGYARLTLSLYDPHSSDLGGHLTNQFMQKKSPLYMLLKEHTVWSMEHLNRYISDTFWKARGLAKDWVFTTLKKRMQQIMAHCFLAAKPKLDCKLGYFDLIGCDFLIDDNFKVWLLEMNSNPALHTNCEVLKEVIPGVVIETLDLVLETFRKSLRGQKMLPLLSQRRFVLLHNGEADPRPHLGGSCSLRRWPPLPTRQAKSSGPPMPHAPDQPGARRPAPPPLVPQRPRPPGPDLDSAHDGEPQAPGTEQSGTGNRHPAQEPSPGTAKEEREEPENARP||,C|upstream_gene_variant|MODIFIER|TTLL10|ENSG00000162571|Transcript|ENST00000379290|protein_coding||||||||||rs9442362|4022|1||SNV|HGNC|HGNC:26693||||1|P1|CCDS44036.1|ENSP00000368592|Q6ZVT0.143||UPI0000205ADB|Q6ZVT0-1|||||||0.3335|0.447|0.4092|0.0754|0.3111|0.4151||||||||||0.3389|0.4054|0.4112|0.4023|0.3193|0.0586|0.2628|0.3196|0.3136|0.3284|0.398|0.447|AFR|||||||||||MDHSCTRFIHRRGPPTRTRAGFKRGKRPRIQQRPRARVSGTIPASRLHPAPASQPGPCPAPGHCPVGPAHERPMGSSQEEGLRCQPSQPDHDADGHCGPDLEGAERASATPGPPGLLNSHRPADSDDTNAAGPSAALLEGLLLGGGKPSPHSTRPGPFFYIGGSNGATIISSYCKSKGWQRIHDSRRDDYTLKWCEVKSRDSYGSFREGEQLLYQLPNNKLLTTKIGLLSTLRGRARAMSKASKVPGGVQARLEKDAAAPALEDLPWTSPGYLRPQRVLRMEEFFPETYRLDLKHEREAFFTLFDETQIWICKPTASNQGKGIFLLRNQEEVAALQAKTRSMEDDPIHHKTPFRGPQARVVQRYIQNPLLVDGRKFDVRSYLLIACTTPYMIFFGHGYARLTLSLYDPHSSDLGGHLTNQFMQKKSPLYMLLKEHTVWSMEHLNRYISDTFWKARGLAKDWVFTTLKKRMQQIMAHCFLAAKPKLDCKLGYFDLIGCDFLIDDNFKVWLLEMNSNPALHTNCEVLKEVIPGVVIETLDLVLETFRKSLRGQKMLPLLSQRRFVLLHNGEADPRPHLGGSCSLRRWPPLPTRQAKSSGPPMPHAPDQPGARRPAPPPLVPQRPRPPGPDLDSAHDGEPQAPGTEQSGTGNRHPAQEPSPGTAKEEREEPENARP||,C|downstream_gene_variant|MODIFIER|TTLL10-AS1|ENSG00000205231|Transcript|ENST00000379317|lncRNA||||||||||rs9442362|3198|-1||SNV|HGNC|HGNC:41159|YES|||2||||||||||||||0.3335|0.447|0.4092|0.0754|0.3111|0.4151||||||||||0.3389|0.4054|0.4112|0.4023|0.3193|0.0586|0.2628|0.3196|0.3136|0.3284|0.398|0.447|AFR|||||||||||||,C|downstream_gene_variant|MODIFIER|MIR200A|ENSG00000207607|Transcript|ENST00000384875|miRNA||||||||||rs9442362|1906|1||SNV|HGNC|HGNC:31578|YES|||||||||||||||||0.3335|0.447|0.4092|0.0754|0.3111|0.4151||||||||||0.3389|0.4054|0.4112|0.4023|0.3193|0.0586|0.2628|0.3196|0.3136|0.3284|0.398|0.447|AFR|||||||||||||,C|downstream_gene_variant|MODIFIER|MIR200B|ENSG00000207730|Transcript|ENST00000384997|miRNA||||||||||rs9442362|2660|1||SNV|HGNC|HGNC:31579|YES|||||||||||||||||0.3335|0.447|0.4092|0.0754|0.3111|0.4151||||||||||0.3389|0.4054|0.4112|0.4023|0.3193|0.0586|0.2628|0.3196|0.3136|0.3284|0.398|0.447|AFR|||||||||||||,C|upstream_gene_variant|MODIFIER|TTLL10|ENSG00000162571|Transcript|ENST00000506177|protein_coding_CDS_not_defined||||||||||rs9442362|4026|1||SNV|HGNC|HGNC:26693||||4||||||||||||||0.3335|0.447|0.4092|0.0754|0.3111|0.4151||||||||||0.3389|0.4054|0.4112|0.4023|0.3193|0.0586|0.2628|0.3196|0.3136|0.3284|0.398|0.447|AFR|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000272141|Transcript|ENST00000606993|lncRNA|1/1||ENST00000606993.1:n.502T>C||502|||||rs9442362||1||SNV|||YES|||||||||||||||||0.3335|0.447|0.4092|0.0754|0.3111|0.4151||||||||||0.3389|0.4054|0.4112|0.4023|0.3193|0.0586|0.2628|0.3196|0.3136|0.3284|0.398|0.447|AFR|||||||||||||,C|upstream_gene_variant|MODIFIER|TTLL10|ENSG00000162571|Transcript|ENST00000673999|protein_coding||||||||||rs9442362|4040|1|cds_end_NF|SNV|HGNC|HGNC:26693|||||||ENSP00000500959||A0A669K9N4.10|UPI001348EF10||||||||0.3335|0.447|0.4092|0.0754|0.3111|0.4151||||||||||0.3389|0.4054|0.4112|0.4023|0.3193|0.0586|0.2628|0.3196|0.3136|0.3284|0.398|0.447|AFR|||||||||||MDHSCTRFIHRRGPPTRTRAGFKRGKRPRIQQRPRARVSGTIPASRLHPAPASQPGPCPAPGHCPVGPAHERPMGSSQEEGLRCQPSQPDHDADGHCGPDLEGAERASATPGP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 1187120 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=2;GERMQ=44;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=63;POPAF=7.3;TLOD=4.2;SRC=custom;GRP=custom;CSQ=G|downstream_gene_variant|MODIFIER|TTLL10|ENSG00000162571|Transcript|ENST00000379288|protein_coding|||||||||||1256|1||SNV|HGNC|HGNC:26693||||1||CCDS8.1|ENSP00000368590|Q6ZVT0.143||UPI000013EF63|Q6ZVT0-3|||||||||||||||||||||||||||||||||||||||||||||MGSSQEEGLRCQPSQPDHDADGHCGPDLEGAERASATPGPPGLLNSHRPADSDDTNAAGPSAALLEGLLLGGGKPSPHSTRPGPFFYIGGSNGATIISSYCKSKGWQRIHDSRRDDYTLKWCEVKSRDSYGSFREGEQLLYQLPNNKLLTTKIGLLSTLRGRARAMSKASKVPGGVQARLEKDAAAPALEDLPWTSPGYLRPQRVLRMEEFFPETYRLDLKHEREAFFTLFDETQIWICKPTASNQGKGIFLLRNQEEVAALQAKTRSMEDDPIHHKTPFRGPQARVVQRYIQNPLLVDGRKFDVRSYLLIACTTPYMIFFGHGYARLTLSLYDPHSSDLGGHLTNQFMQKKSPLYMLLKEHTVWSMEHLNRYISDTFWKARGLAKDWVFTTLKVRPLCPPVWE||,G|intron_variant|MODIFIER|TTLL10|ENSG00000162571|Transcript|ENST00000379289|protein_coding||13/15|ENST00000379289.6:c.1401+2011A>G|||||||||1||SNV|HGNC|HGNC:26693|YES|NM_001130045.2||2|P1|CCDS44036.1|ENSP00000368591|Q6ZVT0.143||UPI0000205ADB|Q6ZVT0-1|||||||||||||||||||||||||||||||||||||||||||||MDHSCTRFIHRRGPPTRTRAGFKRGKRPRIQQRPRARVSGTIPASRLHPAPASQPGPCPAPGHCPVGPAHERPMGSSQEEGLRCQPSQPDHDADGHCGPDLEGAERASATPGPPGLLNSHRPADSDDTNAAGPSAALLEGLLLGGGKPSPHSTRPGPFFYIGGSNGATIISSYCKSKGWQRIHDSRRDDYTLKWCEVKSRDSYGSFREGEQLLYQLPNNKLLTTKIGLLSTLRGRARAMSKASKVPGGVQARLEKDAAAPALEDLPWTSPGYLRPQRVLRMEEFFPETYRLDLKHEREAFFTLFDETQIWICKPTASNQGKGIFLLRNQEEVAALQAKTRSMEDDPIHHKTPFRGPQARVVQRYIQNPLLVDGRKFDVRSYLLIACTTPYMIFFGHGYARLTLSLYDPHSSDLGGHLTNQFMQKKSPLYMLLKEHTVWSMEHLNRYISDTFWKARGLAKDWVFTTLKKRMQQIMAHCFLAAKPKLDCKLGYFDLIGCDFLIDDNFKVWLLEMNSNPALHTNCEVLKEVIPGVVIETLDLVLETFRKSLRGQKMLPLLSQRRFVLLHNGEADPRPHLGGSCSLRRWPPLPTRQAKSSGPPMPHAPDQPGARRPAPPPLVPQRPRPPGPDLDSAHDGEPQAPGTEQSGTGNRHPAQEPSPGTAKEEREEPENARP||,G|intron_variant|MODIFIER|TTLL10|ENSG00000162571|Transcript|ENST00000379290|protein_coding||13/15|ENST00000379290.6:c.1401+2011A>G|||||||||1||SNV|HGNC|HGNC:26693||||1|P1|CCDS44036.1|ENSP00000368592|Q6ZVT0.143||UPI0000205ADB|Q6ZVT0-1|||||||||||||||||||||||||||||||||||||||||||||MDHSCTRFIHRRGPPTRTRAGFKRGKRPRIQQRPRARVSGTIPASRLHPAPASQPGPCPAPGHCPVGPAHERPMGSSQEEGLRCQPSQPDHDADGHCGPDLEGAERASATPGPPGLLNSHRPADSDDTNAAGPSAALLEGLLLGGGKPSPHSTRPGPFFYIGGSNGATIISSYCKSKGWQRIHDSRRDDYTLKWCEVKSRDSYGSFREGEQLLYQLPNNKLLTTKIGLLSTLRGRARAMSKASKVPGGVQARLEKDAAAPALEDLPWTSPGYLRPQRVLRMEEFFPETYRLDLKHEREAFFTLFDETQIWICKPTASNQGKGIFLLRNQEEVAALQAKTRSMEDDPIHHKTPFRGPQARVVQRYIQNPLLVDGRKFDVRSYLLIACTTPYMIFFGHGYARLTLSLYDPHSSDLGGHLTNQFMQKKSPLYMLLKEHTVWSMEHLNRYISDTFWKARGLAKDWVFTTLKKRMQQIMAHCFLAAKPKLDCKLGYFDLIGCDFLIDDNFKVWLLEMNSNPALHTNCEVLKEVIPGVVIETLDLVLETFRKSLRGQKMLPLLSQRRFVLLHNGEADPRPHLGGSCSLRRWPPLPTRQAKSSGPPMPHAPDQPGARRPAPPPLVPQRPRPPGPDLDSAHDGEPQAPGTEQSGTGNRHPAQEPSPGTAKEEREEPENARP||,G|downstream_gene_variant|MODIFIER|TTLL10|ENSG00000162571|Transcript|ENST00000460998|retained_intron|||||||||||3193|1||SNV|HGNC|HGNC:26693||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|TTLL10|ENSG00000162571|Transcript|ENST00000486379|nonsense_mediated_decay||1/4|ENST00000486379.1:c.74+2011A>G|||||||||1|cds_start_NF|SNV|HGNC|HGNC:26693||||3|||ENSP00000464269||J3QRK8.37|UPI000268AE23||||||||||||||||||||||||||||||||||||||||||||||XNRYISDTFWKARGLAKDWVFTTLKCLTQDRSCTSLLSEFLAVNL||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344526|open_chromatin_region||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,0:0,1:0,1:0|1:1187120_A_G:1187120:0,0,1,0 -chr1 1187129 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=2;GERMQ=44;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=72;POPAF=7.3;TLOD=4.2;SRC=custom;GRP=custom;CSQ=G|downstream_gene_variant|MODIFIER|TTLL10|ENSG00000162571|Transcript|ENST00000379288|protein_coding|||||||||||1265|1||SNV|HGNC|HGNC:26693||||1||CCDS8.1|ENSP00000368590|Q6ZVT0.143||UPI000013EF63|Q6ZVT0-3|||||||||||||||||||||||||||||||||||||||||||||MGSSQEEGLRCQPSQPDHDADGHCGPDLEGAERASATPGPPGLLNSHRPADSDDTNAAGPSAALLEGLLLGGGKPSPHSTRPGPFFYIGGSNGATIISSYCKSKGWQRIHDSRRDDYTLKWCEVKSRDSYGSFREGEQLLYQLPNNKLLTTKIGLLSTLRGRARAMSKASKVPGGVQARLEKDAAAPALEDLPWTSPGYLRPQRVLRMEEFFPETYRLDLKHEREAFFTLFDETQIWICKPTASNQGKGIFLLRNQEEVAALQAKTRSMEDDPIHHKTPFRGPQARVVQRYIQNPLLVDGRKFDVRSYLLIACTTPYMIFFGHGYARLTLSLYDPHSSDLGGHLTNQFMQKKSPLYMLLKEHTVWSMEHLNRYISDTFWKARGLAKDWVFTTLKVRPLCPPVWE||,G|intron_variant|MODIFIER|TTLL10|ENSG00000162571|Transcript|ENST00000379289|protein_coding||13/15|ENST00000379289.6:c.1401+2020A>G|||||||||1||SNV|HGNC|HGNC:26693|YES|NM_001130045.2||2|P1|CCDS44036.1|ENSP00000368591|Q6ZVT0.143||UPI0000205ADB|Q6ZVT0-1|||||||||||||||||||||||||||||||||||||||||||||MDHSCTRFIHRRGPPTRTRAGFKRGKRPRIQQRPRARVSGTIPASRLHPAPASQPGPCPAPGHCPVGPAHERPMGSSQEEGLRCQPSQPDHDADGHCGPDLEGAERASATPGPPGLLNSHRPADSDDTNAAGPSAALLEGLLLGGGKPSPHSTRPGPFFYIGGSNGATIISSYCKSKGWQRIHDSRRDDYTLKWCEVKSRDSYGSFREGEQLLYQLPNNKLLTTKIGLLSTLRGRARAMSKASKVPGGVQARLEKDAAAPALEDLPWTSPGYLRPQRVLRMEEFFPETYRLDLKHEREAFFTLFDETQIWICKPTASNQGKGIFLLRNQEEVAALQAKTRSMEDDPIHHKTPFRGPQARVVQRYIQNPLLVDGRKFDVRSYLLIACTTPYMIFFGHGYARLTLSLYDPHSSDLGGHLTNQFMQKKSPLYMLLKEHTVWSMEHLNRYISDTFWKARGLAKDWVFTTLKKRMQQIMAHCFLAAKPKLDCKLGYFDLIGCDFLIDDNFKVWLLEMNSNPALHTNCEVLKEVIPGVVIETLDLVLETFRKSLRGQKMLPLLSQRRFVLLHNGEADPRPHLGGSCSLRRWPPLPTRQAKSSGPPMPHAPDQPGARRPAPPPLVPQRPRPPGPDLDSAHDGEPQAPGTEQSGTGNRHPAQEPSPGTAKEEREEPENARP||,G|intron_variant|MODIFIER|TTLL10|ENSG00000162571|Transcript|ENST00000379290|protein_coding||13/15|ENST00000379290.6:c.1401+2020A>G|||||||||1||SNV|HGNC|HGNC:26693||||1|P1|CCDS44036.1|ENSP00000368592|Q6ZVT0.143||UPI0000205ADB|Q6ZVT0-1|||||||||||||||||||||||||||||||||||||||||||||MDHSCTRFIHRRGPPTRTRAGFKRGKRPRIQQRPRARVSGTIPASRLHPAPASQPGPCPAPGHCPVGPAHERPMGSSQEEGLRCQPSQPDHDADGHCGPDLEGAERASATPGPPGLLNSHRPADSDDTNAAGPSAALLEGLLLGGGKPSPHSTRPGPFFYIGGSNGATIISSYCKSKGWQRIHDSRRDDYTLKWCEVKSRDSYGSFREGEQLLYQLPNNKLLTTKIGLLSTLRGRARAMSKASKVPGGVQARLEKDAAAPALEDLPWTSPGYLRPQRVLRMEEFFPETYRLDLKHEREAFFTLFDETQIWICKPTASNQGKGIFLLRNQEEVAALQAKTRSMEDDPIHHKTPFRGPQARVVQRYIQNPLLVDGRKFDVRSYLLIACTTPYMIFFGHGYARLTLSLYDPHSSDLGGHLTNQFMQKKSPLYMLLKEHTVWSMEHLNRYISDTFWKARGLAKDWVFTTLKKRMQQIMAHCFLAAKPKLDCKLGYFDLIGCDFLIDDNFKVWLLEMNSNPALHTNCEVLKEVIPGVVIETLDLVLETFRKSLRGQKMLPLLSQRRFVLLHNGEADPRPHLGGSCSLRRWPPLPTRQAKSSGPPMPHAPDQPGARRPAPPPLVPQRPRPPGPDLDSAHDGEPQAPGTEQSGTGNRHPAQEPSPGTAKEEREEPENARP||,G|downstream_gene_variant|MODIFIER|TTLL10|ENSG00000162571|Transcript|ENST00000460998|retained_intron|||||||||||3202|1||SNV|HGNC|HGNC:26693||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|TTLL10|ENSG00000162571|Transcript|ENST00000486379|nonsense_mediated_decay||1/4|ENST00000486379.1:c.74+2020A>G|||||||||1|cds_start_NF|SNV|HGNC|HGNC:26693||||3|||ENSP00000464269||J3QRK8.37|UPI000268AE23||||||||||||||||||||||||||||||||||||||||||||||XNRYISDTFWKARGLAKDWVFTTLKCLTQDRSCTSLLSEFLAVNL||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344526|open_chromatin_region||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,0:0,1:0,1:0|1:1187120_A_G:1187120:0,0,1,0 -chr1 1205607 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=44;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=95;POPAF=7.3;TLOD=3.28;SRC=custom;GRP=custom;CSQ=A|intron_variant|MODIFIER|TNFRSF18|ENSG00000186891|Transcript|ENST00000328596|protein_coding||1/3|ENST00000328596.10:c.188-115G>T|||||||||-1||SNV|HGNC|HGNC:11914||||1||CCDS9.1|ENSP00000328207|Q9Y5U5.184||UPI000002B5CE|Q9Y5U5-2|||||||||||||||||||||||||||||||||||||||||||||MAQHGAMGAFRALCGLALLCALSLGQRPTGGPGCGPGRLLLGTGTDARCCRVHTTRCCRDYPGEECCSEWDCMCVQPEFHCGDPCCTTCRHHPCPPGQGVQSQGKFSFGFQCIDCASGTFSGGHEGHCKPWTDCCWRCRRRPKTPEAASSPRKSGASDRQRRRGGWETCGCEPGRPPGPPTAASPSPGAPQAAGALRSALGRALLPWQQKWVQEGGSDQRPGPCSSAAAAGPCRRERETQSWPPSSLAGPDGVGS||,A|intron_variant|MODIFIER|TNFRSF18|ENSG00000186891|Transcript|ENST00000379265|protein_coding||1/4|ENST00000379265.5:c.188-115G>T|||||||||-1||SNV|HGNC|HGNC:11914||||1|P4|CCDS30552.1|ENSP00000368567|Q9Y5U5.184||UPI000015B651|Q9Y5U5-3|||||||||||||||||||||||||||||||||||||||||||||MAQHGAMGAFRALCGLALLCALSLGQRPTGGPGCGPGRLLLGTGTDARCCRVHTTRCCRDYPGEECCSEWDCMCVQPEFHCGDPCCTTCRHHPCPPGQGVQSQGKFSFGFQCIDCASGTFSGGHEGHCKPWTDCTQFGFLTVFPGNKTHNAVCVPGSPPAEPLGWLTVVLLAVAACVLLLTSAQLGLHIWQLRKTQLLLEVPPSTEDARSCQFPEEERGERSAEEKGRLGDLWV||,A|intron_variant|MODIFIER|TNFRSF18|ENSG00000186891|Transcript|ENST00000379268|protein_coding||1/4|ENST00000379268.7:c.188-115G>T|||||||||-1||SNV|HGNC|HGNC:11914|YES|NM_004195.3||1|A2|CCDS10.1|ENSP00000368570|Q9Y5U5.184||UPI0000035975|Q9Y5U5-1|||||||||||||||||||||||||||||||||||||||||||||MAQHGAMGAFRALCGLALLCALSLGQRPTGGPGCGPGRLLLGTGTDARCCRVHTTRCCRDYPGEECCSEWDCMCVQPEFHCGDPCCTTCRHHPCPPGQGVQSQGKFSFGFQCIDCASGTFSGGHEGHCKPWTDCTQFGFLTVFPGNKTHNAVCVPGSPPAEPLGWLTVVLLAVAACVLLLTSAQLGLHIWQLRSQCMWPRETQLLLEVPPSTEDARSCQFPEEERGERSAEEKGRLGDLWV||,A|5_prime_UTR_variant|MODIFIER|TNFRSF18|ENSG00000186891|Transcript|ENST00000486728|protein_coding|1/4||ENST00000486728.5:c.-144G>T||74|||||||-1||SNV|HGNC|HGNC:11914||||1|A2||ENSP00000462735||J3KT02.64|UPI000268AE24||||||||||||||||||||||||||||||||||||||||||||||MCVQPEFHCGDPCCTTCRHHPCPPGQGVQSQGKFSFGFQCIDCASGTFSGGHEGHCKPWTDCTQFGFLTVFPGNKTHNAVCVPGSPPAEPLGWLTVVLLAVAACVLLLTSAQLGLHIWQLRSQCMWPRETQLLLEVPPSTEDARSCQFPEEERGERSAEEKGRLGDLWV||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344533|promoter||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 1217614 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=28%2C29|1%2C1;DP=62;ECNT=2;GERMQ=93;MBQ=34,34;MFRL=0,0;MMQ=60,60;MPOS=9;POPAF=7.3;TLOD=4.51;SRC=custom;GRP=custom;CSQ=A|3_prime_UTR_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000263741|protein_coding|7/7||ENST00000263741.12:c.*56C>T||1396|||||||-1||SNV|HGNC|HGNC:24188||||1||CCDS12.2|ENSP00000263741||A0A5F9UJX7.15|UPI00114AF40C||||||||||||||||||||||||||||||||||||||||||||||MASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEETQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDRKKEFEELIDSNHDGIVTAEELENVPTLPLQPIGTLNSHFVRLAAELGGGKATLTCAPLARRATWTP||,A|synonymous_variant|LOW|SDF4|ENSG00000078808|Transcript|ENST00000360001|protein_coding|7/7||ENST00000360001.12:c.966C>T|ENSP00000353094.7:p.Asn322%3D|1250|966|322|N|aaC/aaT|||-1||SNV|HGNC|HGNC:24188|YES|NM_016176.6||1|P1|CCDS30553.2|ENSP00000353094||A0A5F9UP49.15|UPI0000205990||||||||||||||||||||||||||||||||||||||||||||||MASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEETQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDRKKEFEELIDSNHDGIVTAEELESYMDPMNEYNALNEAKQMIAVADENQNHHLEPEEVLKYSEFFTGSKLVDYARSVHEEF||,A|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000379236|protein_coding|||||||||||3461|-1||SNV|HGNC|HGNC:11918|YES|NM_003327.4||1|P1|CCDS11.1|ENSP00000368538|P43489.186||UPI00001370E5||1||||||||||||||||||||||||||||||||||||||||||||MCVGARRLGRGPCAALLLLGLGLSTVTGLHCVGDTYPSNDRCCHECRPGNGMVSRCSRSQNTVCRPCGPGFYNDVVSSKPCKPCTWCNLRSGSERKQLCTATQDTVCRCRAGTQPLDSYKPGVDCAPCPPGHFSPGDNQACKPWTNCTLAGKHTLQPASNSSDAICEDRDPPATQPQETQGPPARPITVQPTEAWPRTSQGPSTRPVEVPGGRAVAAILGLGLVLGLLGPLAILLALYLLRRDQRLPPDAHKPPGGGSFRTPIQEEQADAHSTLAKI||,A|downstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000403997|protein_coding|||||||||||909|-1|cds_start_NF&cds_end_NF|SNV|HGNC|HGNC:24188||||3|||ENSP00000384207||H0Y3T6.65|UPI000059CF48||||||||||||||||||||||||||||||||||||||||||||||XLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEESSTSRNFLDLRAGVCRPRYPQAAPLSAQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDR||,A|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000453580|protein_coding_CDS_not_defined|||||||||||4116|-1||SNV|HGNC|HGNC:11918||||3||||||||1||||||||||||||||||||||||||||||||||||||||||||||,A|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000465727|nonsense_mediated_decay|7/7||ENST00000465727.5:c.*354C>T||1412|||||||-1||SNV|HGNC|HGNC:24188||||2|||ENSP00000435962||G3V1E2.100|UPI000045610D||||||||||||||||||||||||||||||||||||||||||||||MVWPWVAMASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEESCAPLSTGSPGEPEGPLVPGGQPPCRPAADGGGVPVVPPPRAQPGNAQVHGEGDRPGPGPGR||,A|non_coding_transcript_exon_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000478938|retained_intron|2/2||ENST00000478938.1:n.1911C>T||1911|||||||-1||SNV|HGNC|HGNC:24188||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000494748|retained_intron|3/3||ENST00000494748.1:n.2834C>T||2834|||||||-1||SNV|HGNC|HGNC:24188||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000497869|retained_intron|||||||||||3476|-1||SNV|HGNC|HGNC:11918||||2||||||||1||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000699969|protein_coding|||||||||||3461|-1||SNV|HGNC|HGNC:11918|||||||ENSP00000514726||A0A8V8TPN6.3|UPI0020B0CB92||1||||||||||||||||||||||||||||||||||||||||||||MCVGARRLGRGPCAALLLLGLGLSTVTGLHCVGDTYPSNDRCCHECRPGNGMVSRCSRSQNTVCRPCGPGFYNDVVSSKPCKPCTWCNLRSGSERKQLCTATQDTVCRCRAGTQPLDSYKPGVGELGGCGRRLGVCIAAVCDADGPWAAGTWPHRCLLWHPQDRAPGCTLAGKHTLQPASNSSDAICEDRDPPATQPQETQGPPARPITVQPTEAWPRTSQGPSTRPVEVPGGRAVAAILGLGLVLGLLGPLAILLALYLLRRDQRLPPDAHKPPGGGSFRTPIQEEQADAHSTLAKI||,A|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000699970|non_stop_decay|||||||||||3481|-1||SNV|HGNC|HGNC:11918|||||||ENSP00000514727||A0A8V8TQV3.3|UPI0020B02740||1||||||||||||||||||||||||||||||||||||||||||||MCVGARRLGRGPCAALLLLGLGLSTVTGLHCVGDTYPSNDRCCHECRPGNGMVSRCSRSQNTVCRPCGPGFYNDVEVGVSGSSCARPHRTQSAAAGRAPSPWTATSLELTVPPALQGTSPQATTRPASPGPTAPWLGSTPCSRPAIARTQSVRTGTPQPRSPRRPRAPRPGPSLSSPLKPGPEPHRDPPPGPWRSPGAVRLPPSWAWAWCWGCWAPWPSCWPCTCSGGTRGCPPMPTSPLGEAVSGPPSKRSRPTPTPPWPRSDLGPPRWTLGPARLEPGGSAGRAGQVQAACPATLLGQLCTVLGADGCLRLSAYVCHAYLLPRGTTIKTLADG||,A|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000699971|protein_coding|||||||||||3461|-1||SNV|HGNC|HGNC:11918|||||||ENSP00000514728||A0A8V8TP52.3|UPI0020B071B7||1||||||||||||||||||||||||||||||||||||||||||||MCVGARRLGRGPCAALLLLGLGLSTVTGLHCVGDTYPSNDRCCHECRPGNGMVSRCSRSQNTVCRPCGPGFYNDVVSSKPCKPCTWCNLRSGSERKQLCTATQDTVCRCRAGTQPLDSYKPGVDCAPCPPGHFSPGDNQACKPWTNCTLAGKHTLQPASNSSDAICEDRDPPATQPQETQGPPARPITVQPTEAWPRTSQGPSTRPVEVPGGKGAWPSPAGPPTRIGEGEGGMGAPPVDPTQQTPSCRPCGCRHPGPGPGAGAAGPPGHPAGPVPAPEGPEAAPRCPQAPWGRQFPDPHPRGAGRRPLHPGQDLTWAHQGGRWAPPGWSPEGLLGEQGRCRPPAPPRSWANSAPF||,A|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000699972|retained_intron|||||||||||3461|-1||SNV|HGNC|HGNC:11918||||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000699973|nonsense_mediated_decay|||||||||||3461|-1||SNV|HGNC|HGNC:11918|||||||ENSP00000514729||A0A8V8TPH3.3|UPI0020B080BE||1||||||||||||||||||||||||||||||||||||||||||||MCVGARRLGRGPCAALLLLGLGLSTVTGLHCVGDTYPSNDRCCHECRPGNGMVSRCSRSQNTVCRPCGPGFYNDVVSSKPCKPCTWCNLRSGSERKQLCTATQDTVCRCRAGTQPLDSYKPGVGELGGCGRRLGVCIAAVCDADGPWAAGTWPHRCLLWHPQDRAPGLCPLPSRALLPRRQPGLQALDQLHLGWEAHPAAGQQ||,A|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000699974|protein_coding|||||||||||3461|-1||SNV|HGNC|HGNC:11918||||||CCDS90838.1|ENSP00000514730||A0A8V8TQH5.3|UPI000387C2CB||1||||||||||||||||||||||||||||||||||||||||||||MCVGARRLGRGPCAALLLLGLGLSTVTGLHCVGDTYPSNDRCCHECRPGNGMVSRCSRSQNTVCRPCGPGFYNDVVSSKPCKPCTWCNLRSGSERKQLCTATQDTVCRCRAGTQPLDSYKPGVDCAPCPPGHFSPGDNQACKPWTNCTLAGKHTLQPASNSSDAICEDRDPPATQPQETQGPPARPITVQPTEAWPRTSQGPSTRPVEVPGGRAVAAILGLGLVLGLLGPLAILLALYLLRRDQRLPPDAHKPPGECLMALPHCSWRVRPTHQSLLFSSPGGGSFRTPIQEEQADAHSTLAKI||,A|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000699975|protein_coding|||||||||||3461|-1||SNV|HGNC|HGNC:11918|||||||ENSP00000514731||A0A8V8TPP1.3|UPI0020B0EF97||1||||||||||||||||||||||||||||||||||||||||||||MCVGARRLGRGPCAALLLLGLGLSTVTGLHCVGDTYPSNDRCCHECRPGNGMVSRCSRSQNTVCRPCGPGFYNDVVSSKPCKPCTWCNLRSGSERKQLCTATQDTVCRCRAGTQPLDSYKPGVGRAVAAILGLGLVLGLLGPLAILLALYLLRRDQRLPPDAHKPPGGGSFRTPIQEEQADAHSTLAKI||,A|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000699976|protein_coding|||||||||||3461|-1||SNV|HGNC|HGNC:11918|||||||ENSP00000514732||A0A8V8TQV7.3|UPI0020AFDDC2||1||||||||||||||||||||||||||||||||||||||||||||MCVGARRLGRGPCAALLLLGLGLSTVTGLHCVGDTYPSNDRCCHECRPGNGMVSRCSRSQNTVCRPCGPGFYNDVVSSKPCKPCTWCNLRSGSERKQLCTATQDTVCRCRAGTQPLDSYKPGVDCAPCPPGHFSPGDNQACKPWTKPCGCRHPGPGPGAGAAGPPGHPAGPVPAPEGPEAAPRCPQAPWGRQFPDPHPRGAGRRPLHPGQDLTWAHQGGRWAPPGWSPEGLLGEQGRCRPPAPPRSWANSAPF||,A|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000699977|protein_coding|||||||||||3461|-1||SNV|HGNC|HGNC:11918|||||||ENSP00000514733||A0A8V8TP56.3|UPI0020B07D11||1||||||||||||||||||||||||||||||||||||||||||||MCVGARRLGRGPCAALLLLGLGLSTVTGLHCVGDTYPSNDRCCHECRPGNGMVSRCSRSQNTVCRPCGPGFYNDVVSSKPCKPCTWCNLRSGSERKQLCTATQDTVCRCRAGTQPLDSYKPGVDCAPCPPGHFSPGDNQACKPWTNCTLAGKHTLQPASNSSDAICEDRDPPATQPQETQGPPARPITVQPTEAWPRTSQGPSTRPVEVPGGGGSFRTPIQEEQADAHSTLAKI||,A|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000699978|non_stop_decay|||||||||||3461|-1||SNV|HGNC|HGNC:11918|||||||ENSP00000514734||A0A8V8TPH7.3|UPI0020B07990||1||||||||||||||||||||||||||||||||||||||||||||MCVGARRLGRGPCAALLLLGLGLSTVTGLHCVGDTYPSNDRCCHECRPGNGMEVGVSGSSCARPHRTQSAAAGRAPSPWTATSLELTVPPALQGTSPQATTRPASPGPTAPWLGSTPCSRPAIARTQSVRTGTPQPRSPRRPRAPRPGPSLSSPLKPGPEPHRDPPPGPWRSPGAVRLPPSWAWAWCWGCWAPWPSCWPCTCSGGTRGCPPMPTSPLGEAVSGPPSKRSRPTPTPPWPRSDLGPPRWTLGPARLEPGGSAGRAGQVQAACPATLLGQLCTVLGADGCLRLSAYVCHAYLLPRGTTIKTLAD||,A|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000699979|non_stop_decay|||||||||||3462|-1||SNV|HGNC|HGNC:11918|||||||ENSP00000514735||A0A8V8TQH9.3|UPI0020B09817||1||||||||||||||||||||||||||||||||||||||||||||MCVGARRLGRGPCAALLLLGLGLSTVTGLHCVGDTYPSNDRCCHECRPGNGMVSRCSRSQNTVCRPCGPGFYNDVVSSKPCKPCTWCNLRSGSERKQLCTATQDTVCRCRAGTQPLDSYKPGVAAPWLGSTPCSRPAIARTQSVRTGTPQPRSPRRPRAPRPGPSLSSPLKPGPEPHRDPPPGPWRSPGAVRLPPSWAWAWCWGCWAPWPSCWPCTCSGGTRGCPPMPTSPLGEAVSGPPSKRSRPTPTPPWPRSDLGPPRWTLGPARLEPGGSAGRAGQVQAACPATLLGQLCTVLGADGCLRLSAYVCHAYLLPRGTTIKTLA||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344538|promoter||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:57,2:0.052:59:7,0:28,1:35,1:28,29,1,1 -chr1 1217640 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=22%2C21|1%2C1;DP=45;ECNT=2;GERMQ=93;MBQ=34,32;MFRL=0,0;MMQ=60,60;MPOS=75;POPAF=7.3;TLOD=4.44;SRC=custom;GRP=custom;CSQ=A|3_prime_UTR_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000263741|protein_coding|7/7||ENST00000263741.12:c.*30C>T||1370|||||||-1||SNV|HGNC|HGNC:24188||||1||CCDS12.2|ENSP00000263741||A0A5F9UJX7.15|UPI00114AF40C||||||||||||||||||||||||||||||||||||||||||||||MASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEETQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDRKKEFEELIDSNHDGIVTAEELENVPTLPLQPIGTLNSHFVRLAAELGGGKATLTCAPLARRATWTP||,A|stop_gained|HIGH|SDF4|ENSG00000078808|Transcript|ENST00000360001|protein_coding|7/7||ENST00000360001.12:c.940C>T|ENSP00000353094.7:p.Gln314Ter|1224|940|314|Q/*|Cag/Tag|||-1||SNV|HGNC|HGNC:24188|YES|NM_016176.6||1|P1|CCDS30553.2|ENSP00000353094||A0A5F9UP49.15|UPI0000205990|||||||||||||||||||||||||||||||||||||||||||||NMD_escaping_variant|MASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEETQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDRKKEFEELIDSNHDGIVTAEELESYMDPMNEYNALNEAKQMIAVADENQNHHLEPEEVLKYSEFFTGSKLVDYARSVHEEF||,A|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000379236|protein_coding|||||||||||3487|-1||SNV|HGNC|HGNC:11918|YES|NM_003327.4||1|P1|CCDS11.1|ENSP00000368538|P43489.186||UPI00001370E5||1||||||||||||||||||||||||||||||||||||||||||||MCVGARRLGRGPCAALLLLGLGLSTVTGLHCVGDTYPSNDRCCHECRPGNGMVSRCSRSQNTVCRPCGPGFYNDVVSSKPCKPCTWCNLRSGSERKQLCTATQDTVCRCRAGTQPLDSYKPGVDCAPCPPGHFSPGDNQACKPWTNCTLAGKHTLQPASNSSDAICEDRDPPATQPQETQGPPARPITVQPTEAWPRTSQGPSTRPVEVPGGRAVAAILGLGLVLGLLGPLAILLALYLLRRDQRLPPDAHKPPGGGSFRTPIQEEQADAHSTLAKI||,A|downstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000403997|protein_coding|||||||||||883|-1|cds_start_NF&cds_end_NF|SNV|HGNC|HGNC:24188||||3|||ENSP00000384207||H0Y3T6.65|UPI000059CF48||||||||||||||||||||||||||||||||||||||||||||||XLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEESSTSRNFLDLRAGVCRPRYPQAAPLSAQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDR||,A|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000453580|protein_coding_CDS_not_defined|||||||||||4142|-1||SNV|HGNC|HGNC:11918||||3||||||||1||||||||||||||||||||||||||||||||||||||||||||||,A|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000465727|nonsense_mediated_decay|7/7||ENST00000465727.5:c.*328C>T||1386|||||||-1||SNV|HGNC|HGNC:24188||||2|||ENSP00000435962||G3V1E2.100|UPI000045610D||||||||||||||||||||||||||||||||||||||||||||||MVWPWVAMASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEESCAPLSTGSPGEPEGPLVPGGQPPCRPAADGGGVPVVPPPRAQPGNAQVHGEGDRPGPGPGR||,A|non_coding_transcript_exon_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000478938|retained_intron|2/2||ENST00000478938.1:n.1885C>T||1885|||||||-1||SNV|HGNC|HGNC:24188||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000494748|retained_intron|3/3||ENST00000494748.1:n.2808C>T||2808|||||||-1||SNV|HGNC|HGNC:24188||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000497869|retained_intron|||||||||||3502|-1||SNV|HGNC|HGNC:11918||||2||||||||1||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000699969|protein_coding|||||||||||3487|-1||SNV|HGNC|HGNC:11918|||||||ENSP00000514726||A0A8V8TPN6.3|UPI0020B0CB92||1||||||||||||||||||||||||||||||||||||||||||||MCVGARRLGRGPCAALLLLGLGLSTVTGLHCVGDTYPSNDRCCHECRPGNGMVSRCSRSQNTVCRPCGPGFYNDVVSSKPCKPCTWCNLRSGSERKQLCTATQDTVCRCRAGTQPLDSYKPGVGELGGCGRRLGVCIAAVCDADGPWAAGTWPHRCLLWHPQDRAPGCTLAGKHTLQPASNSSDAICEDRDPPATQPQETQGPPARPITVQPTEAWPRTSQGPSTRPVEVPGGRAVAAILGLGLVLGLLGPLAILLALYLLRRDQRLPPDAHKPPGGGSFRTPIQEEQADAHSTLAKI||,A|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000699970|non_stop_decay|||||||||||3507|-1||SNV|HGNC|HGNC:11918|||||||ENSP00000514727||A0A8V8TQV3.3|UPI0020B02740||1||||||||||||||||||||||||||||||||||||||||||||MCVGARRLGRGPCAALLLLGLGLSTVTGLHCVGDTYPSNDRCCHECRPGNGMVSRCSRSQNTVCRPCGPGFYNDVEVGVSGSSCARPHRTQSAAAGRAPSPWTATSLELTVPPALQGTSPQATTRPASPGPTAPWLGSTPCSRPAIARTQSVRTGTPQPRSPRRPRAPRPGPSLSSPLKPGPEPHRDPPPGPWRSPGAVRLPPSWAWAWCWGCWAPWPSCWPCTCSGGTRGCPPMPTSPLGEAVSGPPSKRSRPTPTPPWPRSDLGPPRWTLGPARLEPGGSAGRAGQVQAACPATLLGQLCTVLGADGCLRLSAYVCHAYLLPRGTTIKTLADG||,A|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000699971|protein_coding|||||||||||3487|-1||SNV|HGNC|HGNC:11918|||||||ENSP00000514728||A0A8V8TP52.3|UPI0020B071B7||1||||||||||||||||||||||||||||||||||||||||||||MCVGARRLGRGPCAALLLLGLGLSTVTGLHCVGDTYPSNDRCCHECRPGNGMVSRCSRSQNTVCRPCGPGFYNDVVSSKPCKPCTWCNLRSGSERKQLCTATQDTVCRCRAGTQPLDSYKPGVDCAPCPPGHFSPGDNQACKPWTNCTLAGKHTLQPASNSSDAICEDRDPPATQPQETQGPPARPITVQPTEAWPRTSQGPSTRPVEVPGGKGAWPSPAGPPTRIGEGEGGMGAPPVDPTQQTPSCRPCGCRHPGPGPGAGAAGPPGHPAGPVPAPEGPEAAPRCPQAPWGRQFPDPHPRGAGRRPLHPGQDLTWAHQGGRWAPPGWSPEGLLGEQGRCRPPAPPRSWANSAPF||,A|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000699972|retained_intron|||||||||||3487|-1||SNV|HGNC|HGNC:11918||||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000699973|nonsense_mediated_decay|||||||||||3487|-1||SNV|HGNC|HGNC:11918|||||||ENSP00000514729||A0A8V8TPH3.3|UPI0020B080BE||1||||||||||||||||||||||||||||||||||||||||||||MCVGARRLGRGPCAALLLLGLGLSTVTGLHCVGDTYPSNDRCCHECRPGNGMVSRCSRSQNTVCRPCGPGFYNDVVSSKPCKPCTWCNLRSGSERKQLCTATQDTVCRCRAGTQPLDSYKPGVGELGGCGRRLGVCIAAVCDADGPWAAGTWPHRCLLWHPQDRAPGLCPLPSRALLPRRQPGLQALDQLHLGWEAHPAAGQQ||,A|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000699974|protein_coding|||||||||||3487|-1||SNV|HGNC|HGNC:11918||||||CCDS90838.1|ENSP00000514730||A0A8V8TQH5.3|UPI000387C2CB||1||||||||||||||||||||||||||||||||||||||||||||MCVGARRLGRGPCAALLLLGLGLSTVTGLHCVGDTYPSNDRCCHECRPGNGMVSRCSRSQNTVCRPCGPGFYNDVVSSKPCKPCTWCNLRSGSERKQLCTATQDTVCRCRAGTQPLDSYKPGVDCAPCPPGHFSPGDNQACKPWTNCTLAGKHTLQPASNSSDAICEDRDPPATQPQETQGPPARPITVQPTEAWPRTSQGPSTRPVEVPGGRAVAAILGLGLVLGLLGPLAILLALYLLRRDQRLPPDAHKPPGECLMALPHCSWRVRPTHQSLLFSSPGGGSFRTPIQEEQADAHSTLAKI||,A|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000699975|protein_coding|||||||||||3487|-1||SNV|HGNC|HGNC:11918|||||||ENSP00000514731||A0A8V8TPP1.3|UPI0020B0EF97||1||||||||||||||||||||||||||||||||||||||||||||MCVGARRLGRGPCAALLLLGLGLSTVTGLHCVGDTYPSNDRCCHECRPGNGMVSRCSRSQNTVCRPCGPGFYNDVVSSKPCKPCTWCNLRSGSERKQLCTATQDTVCRCRAGTQPLDSYKPGVGRAVAAILGLGLVLGLLGPLAILLALYLLRRDQRLPPDAHKPPGGGSFRTPIQEEQADAHSTLAKI||,A|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000699976|protein_coding|||||||||||3487|-1||SNV|HGNC|HGNC:11918|||||||ENSP00000514732||A0A8V8TQV7.3|UPI0020AFDDC2||1||||||||||||||||||||||||||||||||||||||||||||MCVGARRLGRGPCAALLLLGLGLSTVTGLHCVGDTYPSNDRCCHECRPGNGMVSRCSRSQNTVCRPCGPGFYNDVVSSKPCKPCTWCNLRSGSERKQLCTATQDTVCRCRAGTQPLDSYKPGVDCAPCPPGHFSPGDNQACKPWTKPCGCRHPGPGPGAGAAGPPGHPAGPVPAPEGPEAAPRCPQAPWGRQFPDPHPRGAGRRPLHPGQDLTWAHQGGRWAPPGWSPEGLLGEQGRCRPPAPPRSWANSAPF||,A|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000699977|protein_coding|||||||||||3487|-1||SNV|HGNC|HGNC:11918|||||||ENSP00000514733||A0A8V8TP56.3|UPI0020B07D11||1||||||||||||||||||||||||||||||||||||||||||||MCVGARRLGRGPCAALLLLGLGLSTVTGLHCVGDTYPSNDRCCHECRPGNGMVSRCSRSQNTVCRPCGPGFYNDVVSSKPCKPCTWCNLRSGSERKQLCTATQDTVCRCRAGTQPLDSYKPGVDCAPCPPGHFSPGDNQACKPWTNCTLAGKHTLQPASNSSDAICEDRDPPATQPQETQGPPARPITVQPTEAWPRTSQGPSTRPVEVPGGGGSFRTPIQEEQADAHSTLAKI||,A|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000699978|non_stop_decay|||||||||||3487|-1||SNV|HGNC|HGNC:11918|||||||ENSP00000514734||A0A8V8TPH7.3|UPI0020B07990||1||||||||||||||||||||||||||||||||||||||||||||MCVGARRLGRGPCAALLLLGLGLSTVTGLHCVGDTYPSNDRCCHECRPGNGMEVGVSGSSCARPHRTQSAAAGRAPSPWTATSLELTVPPALQGTSPQATTRPASPGPTAPWLGSTPCSRPAIARTQSVRTGTPQPRSPRRPRAPRPGPSLSSPLKPGPEPHRDPPPGPWRSPGAVRLPPSWAWAWCWGCWAPWPSCWPCTCSGGTRGCPPMPTSPLGEAVSGPPSKRSRPTPTPPWPRSDLGPPRWTLGPARLEPGGSAGRAGQVQAACPATLLGQLCTVLGADGCLRLSAYVCHAYLLPRGTTIKTLAD||,A|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000699979|non_stop_decay|||||||||||3488|-1||SNV|HGNC|HGNC:11918|||||||ENSP00000514735||A0A8V8TQH9.3|UPI0020B09817||1||||||||||||||||||||||||||||||||||||||||||||MCVGARRLGRGPCAALLLLGLGLSTVTGLHCVGDTYPSNDRCCHECRPGNGMVSRCSRSQNTVCRPCGPGFYNDVVSSKPCKPCTWCNLRSGSERKQLCTATQDTVCRCRAGTQPLDSYKPGVAAPWLGSTPCSRPAIARTQSVRTGTPQPRSPRRPRAPRPGPSLSSPLKPGPEPHRDPPPGPWRSPGAVRLPPSWAWAWCWGCWAPWPSCWPCTCSGGTRGCPPMPTSPLGEAVSGPPSKRSRPTPTPPWPRSDLGPPRWTLGPARLEPGGSAGRAGQVQAACPATLLGQLCTVLGADGCLRLSAYVCHAYLLPRGTTIKTLA||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344538|promoter||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:43,2:0.067:45:3,0:22,1:27,1:22,21,1,1 -chr1 1217674 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=10%2C19|1%2C1;DP=31;ECNT=1;GERMQ=93;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=28;POPAF=7.3;TLOD=4.74;SRC=custom;GRP=custom;CSQ=A|missense_variant|MODERATE|SDF4|ENSG00000078808|Transcript|ENST00000263741|protein_coding|7/7||ENST00000263741.12:c.1022C>T|ENSP00000263741.8:p.Pro341Leu|1336|1022|341|P/L|cCa/cTa|||-1||SNV|HGNC|HGNC:24188||||1||CCDS12.2|ENSP00000263741||A0A5F9UJX7.15|UPI00114AF40C|||deleterious_low_confidence(0)|possibly_damaging(0.856)||||||||||||||||||||||||||||||||||||||||||MASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEETQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDRKKEFEELIDSNHDGIVTAEELENVPTLPLQPIGTLNSHFVRLAAELGGGKATLTCAPLARRATWTP||,A|synonymous_variant|LOW|SDF4|ENSG00000078808|Transcript|ENST00000360001|protein_coding|7/7||ENST00000360001.12:c.906C>T|ENSP00000353094.7:p.Pro302%3D|1190|906|302|P|ccC/ccT|||-1||SNV|HGNC|HGNC:24188|YES|NM_016176.6||1|P1|CCDS30553.2|ENSP00000353094||A0A5F9UP49.15|UPI0000205990||||||||||||||||||||||||||||||||||||||||||||||MASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEETQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDRKKEFEELIDSNHDGIVTAEELESYMDPMNEYNALNEAKQMIAVADENQNHHLEPEEVLKYSEFFTGSKLVDYARSVHEEF||,A|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000379236|protein_coding|||||||||||3521|-1||SNV|HGNC|HGNC:11918|YES|NM_003327.4||1|P1|CCDS11.1|ENSP00000368538|P43489.186||UPI00001370E5||1||||||||||||||||||||||||||||||||||||||||||||MCVGARRLGRGPCAALLLLGLGLSTVTGLHCVGDTYPSNDRCCHECRPGNGMVSRCSRSQNTVCRPCGPGFYNDVVSSKPCKPCTWCNLRSGSERKQLCTATQDTVCRCRAGTQPLDSYKPGVDCAPCPPGHFSPGDNQACKPWTNCTLAGKHTLQPASNSSDAICEDRDPPATQPQETQGPPARPITVQPTEAWPRTSQGPSTRPVEVPGGRAVAAILGLGLVLGLLGPLAILLALYLLRRDQRLPPDAHKPPGGGSFRTPIQEEQADAHSTLAKI||,A|downstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000403997|protein_coding|||||||||||849|-1|cds_start_NF&cds_end_NF|SNV|HGNC|HGNC:24188||||3|||ENSP00000384207||H0Y3T6.65|UPI000059CF48||||||||||||||||||||||||||||||||||||||||||||||XLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEESSTSRNFLDLRAGVCRPRYPQAAPLSAQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDR||,A|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000453580|protein_coding_CDS_not_defined|||||||||||4176|-1||SNV|HGNC|HGNC:11918||||3||||||||1||||||||||||||||||||||||||||||||||||||||||||||,A|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000465727|nonsense_mediated_decay|7/7||ENST00000465727.5:c.*294C>T||1352|||||||-1||SNV|HGNC|HGNC:24188||||2|||ENSP00000435962||G3V1E2.100|UPI000045610D||||||||||||||||||||||||||||||||||||||||||||||MVWPWVAMASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEESCAPLSTGSPGEPEGPLVPGGQPPCRPAADGGGVPVVPPPRAQPGNAQVHGEGDRPGPGPGR||,A|non_coding_transcript_exon_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000478938|retained_intron|2/2||ENST00000478938.1:n.1851C>T||1851|||||||-1||SNV|HGNC|HGNC:24188||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000494748|retained_intron|3/3||ENST00000494748.1:n.2774C>T||2774|||||||-1||SNV|HGNC|HGNC:24188||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000497869|retained_intron|||||||||||3536|-1||SNV|HGNC|HGNC:11918||||2||||||||1||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000699969|protein_coding|||||||||||3521|-1||SNV|HGNC|HGNC:11918|||||||ENSP00000514726||A0A8V8TPN6.3|UPI0020B0CB92||1||||||||||||||||||||||||||||||||||||||||||||MCVGARRLGRGPCAALLLLGLGLSTVTGLHCVGDTYPSNDRCCHECRPGNGMVSRCSRSQNTVCRPCGPGFYNDVVSSKPCKPCTWCNLRSGSERKQLCTATQDTVCRCRAGTQPLDSYKPGVGELGGCGRRLGVCIAAVCDADGPWAAGTWPHRCLLWHPQDRAPGCTLAGKHTLQPASNSSDAICEDRDPPATQPQETQGPPARPITVQPTEAWPRTSQGPSTRPVEVPGGRAVAAILGLGLVLGLLGPLAILLALYLLRRDQRLPPDAHKPPGGGSFRTPIQEEQADAHSTLAKI||,A|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000699970|non_stop_decay|||||||||||3541|-1||SNV|HGNC|HGNC:11918|||||||ENSP00000514727||A0A8V8TQV3.3|UPI0020B02740||1||||||||||||||||||||||||||||||||||||||||||||MCVGARRLGRGPCAALLLLGLGLSTVTGLHCVGDTYPSNDRCCHECRPGNGMVSRCSRSQNTVCRPCGPGFYNDVEVGVSGSSCARPHRTQSAAAGRAPSPWTATSLELTVPPALQGTSPQATTRPASPGPTAPWLGSTPCSRPAIARTQSVRTGTPQPRSPRRPRAPRPGPSLSSPLKPGPEPHRDPPPGPWRSPGAVRLPPSWAWAWCWGCWAPWPSCWPCTCSGGTRGCPPMPTSPLGEAVSGPPSKRSRPTPTPPWPRSDLGPPRWTLGPARLEPGGSAGRAGQVQAACPATLLGQLCTVLGADGCLRLSAYVCHAYLLPRGTTIKTLADG||,A|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000699971|protein_coding|||||||||||3521|-1||SNV|HGNC|HGNC:11918|||||||ENSP00000514728||A0A8V8TP52.3|UPI0020B071B7||1||||||||||||||||||||||||||||||||||||||||||||MCVGARRLGRGPCAALLLLGLGLSTVTGLHCVGDTYPSNDRCCHECRPGNGMVSRCSRSQNTVCRPCGPGFYNDVVSSKPCKPCTWCNLRSGSERKQLCTATQDTVCRCRAGTQPLDSYKPGVDCAPCPPGHFSPGDNQACKPWTNCTLAGKHTLQPASNSSDAICEDRDPPATQPQETQGPPARPITVQPTEAWPRTSQGPSTRPVEVPGGKGAWPSPAGPPTRIGEGEGGMGAPPVDPTQQTPSCRPCGCRHPGPGPGAGAAGPPGHPAGPVPAPEGPEAAPRCPQAPWGRQFPDPHPRGAGRRPLHPGQDLTWAHQGGRWAPPGWSPEGLLGEQGRCRPPAPPRSWANSAPF||,A|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000699972|retained_intron|||||||||||3521|-1||SNV|HGNC|HGNC:11918||||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000699973|nonsense_mediated_decay|||||||||||3521|-1||SNV|HGNC|HGNC:11918|||||||ENSP00000514729||A0A8V8TPH3.3|UPI0020B080BE||1||||||||||||||||||||||||||||||||||||||||||||MCVGARRLGRGPCAALLLLGLGLSTVTGLHCVGDTYPSNDRCCHECRPGNGMVSRCSRSQNTVCRPCGPGFYNDVVSSKPCKPCTWCNLRSGSERKQLCTATQDTVCRCRAGTQPLDSYKPGVGELGGCGRRLGVCIAAVCDADGPWAAGTWPHRCLLWHPQDRAPGLCPLPSRALLPRRQPGLQALDQLHLGWEAHPAAGQQ||,A|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000699974|protein_coding|||||||||||3521|-1||SNV|HGNC|HGNC:11918||||||CCDS90838.1|ENSP00000514730||A0A8V8TQH5.3|UPI000387C2CB||1||||||||||||||||||||||||||||||||||||||||||||MCVGARRLGRGPCAALLLLGLGLSTVTGLHCVGDTYPSNDRCCHECRPGNGMVSRCSRSQNTVCRPCGPGFYNDVVSSKPCKPCTWCNLRSGSERKQLCTATQDTVCRCRAGTQPLDSYKPGVDCAPCPPGHFSPGDNQACKPWTNCTLAGKHTLQPASNSSDAICEDRDPPATQPQETQGPPARPITVQPTEAWPRTSQGPSTRPVEVPGGRAVAAILGLGLVLGLLGPLAILLALYLLRRDQRLPPDAHKPPGECLMALPHCSWRVRPTHQSLLFSSPGGGSFRTPIQEEQADAHSTLAKI||,A|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000699975|protein_coding|||||||||||3521|-1||SNV|HGNC|HGNC:11918|||||||ENSP00000514731||A0A8V8TPP1.3|UPI0020B0EF97||1||||||||||||||||||||||||||||||||||||||||||||MCVGARRLGRGPCAALLLLGLGLSTVTGLHCVGDTYPSNDRCCHECRPGNGMVSRCSRSQNTVCRPCGPGFYNDVVSSKPCKPCTWCNLRSGSERKQLCTATQDTVCRCRAGTQPLDSYKPGVGRAVAAILGLGLVLGLLGPLAILLALYLLRRDQRLPPDAHKPPGGGSFRTPIQEEQADAHSTLAKI||,A|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000699976|protein_coding|||||||||||3521|-1||SNV|HGNC|HGNC:11918|||||||ENSP00000514732||A0A8V8TQV7.3|UPI0020AFDDC2||1||||||||||||||||||||||||||||||||||||||||||||MCVGARRLGRGPCAALLLLGLGLSTVTGLHCVGDTYPSNDRCCHECRPGNGMVSRCSRSQNTVCRPCGPGFYNDVVSSKPCKPCTWCNLRSGSERKQLCTATQDTVCRCRAGTQPLDSYKPGVDCAPCPPGHFSPGDNQACKPWTKPCGCRHPGPGPGAGAAGPPGHPAGPVPAPEGPEAAPRCPQAPWGRQFPDPHPRGAGRRPLHPGQDLTWAHQGGRWAPPGWSPEGLLGEQGRCRPPAPPRSWANSAPF||,A|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000699977|protein_coding|||||||||||3521|-1||SNV|HGNC|HGNC:11918|||||||ENSP00000514733||A0A8V8TP56.3|UPI0020B07D11||1||||||||||||||||||||||||||||||||||||||||||||MCVGARRLGRGPCAALLLLGLGLSTVTGLHCVGDTYPSNDRCCHECRPGNGMVSRCSRSQNTVCRPCGPGFYNDVVSSKPCKPCTWCNLRSGSERKQLCTATQDTVCRCRAGTQPLDSYKPGVDCAPCPPGHFSPGDNQACKPWTNCTLAGKHTLQPASNSSDAICEDRDPPATQPQETQGPPARPITVQPTEAWPRTSQGPSTRPVEVPGGGGSFRTPIQEEQADAHSTLAKI||,A|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000699978|non_stop_decay|||||||||||3521|-1||SNV|HGNC|HGNC:11918|||||||ENSP00000514734||A0A8V8TPH7.3|UPI0020B07990||1||||||||||||||||||||||||||||||||||||||||||||MCVGARRLGRGPCAALLLLGLGLSTVTGLHCVGDTYPSNDRCCHECRPGNGMEVGVSGSSCARPHRTQSAAAGRAPSPWTATSLELTVPPALQGTSPQATTRPASPGPTAPWLGSTPCSRPAIARTQSVRTGTPQPRSPRRPRAPRPGPSLSSPLKPGPEPHRDPPPGPWRSPGAVRLPPSWAWAWCWGCWAPWPSCWPCTCSGGTRGCPPMPTSPLGEAVSGPPSKRSRPTPTPPWPRSDLGPPRWTLGPARLEPGGSAGRAGQVQAACPATLLGQLCTVLGADGCLRLSAYVCHAYLLPRGTTIKTLAD||,A|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000699979|non_stop_decay|||||||||||3522|-1||SNV|HGNC|HGNC:11918|||||||ENSP00000514735||A0A8V8TQH9.3|UPI0020B09817||1||||||||||||||||||||||||||||||||||||||||||||MCVGARRLGRGPCAALLLLGLGLSTVTGLHCVGDTYPSNDRCCHECRPGNGMVSRCSRSQNTVCRPCGPGFYNDVVSSKPCKPCTWCNLRSGSERKQLCTATQDTVCRCRAGTQPLDSYKPGVAAPWLGSTPCSRPAIARTQSVRTGTPQPRSPRRPRAPRPGPSLSSPLKPGPEPHRDPPPGPWRSPGAVRLPPSWAWAWCWGCWAPWPSCWPCTCSGGTRGCPPMPTSPLGEAVSGPPSKRSRPTPTPPWPRSDLGPPRWTLGPARLEPGGSAGRAGQVQAACPATLLGQLCTVLGADGCLRLSAYVCHAYLLPRGTTIKTLA||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344538|promoter||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:29,2:0.074:31:7,0:10,1:24,1:10,19,1,1 -chr1 1218486 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=21%2C18|1%2C1;DP=46;ECNT=1;GERMQ=93;MBQ=33,30;MFRL=0,0;MMQ=60,60;MPOS=113;POPAF=7.3;TLOD=3.93;SRC=custom;GRP=custom;CSQ=C|missense_variant|MODERATE|SDF4|ENSG00000078808|Transcript|ENST00000263741|protein_coding|6/7||ENST00000263741.12:c.863A>G|ENSP00000263741.8:p.Asp288Gly|1177|863|288|D/G|gAc/gGc|rs1570474323||-1||SNV|HGNC|HGNC:24188||||1||CCDS12.2|ENSP00000263741||A0A5F9UJX7.15|UPI00114AF40C|||deleterious(0)|probably_damaging(0.92)||||||||||||||||||||||||||||||||||||||||||MASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEETQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDRKKEFEELIDSNHDGIVTAEELENVPTLPLQPIGTLNSHFVRLAAELGGGKATLTCAPLARRATWTP||,C|missense_variant|MODERATE|SDF4|ENSG00000078808|Transcript|ENST00000360001|protein_coding|6/7||ENST00000360001.12:c.863A>G|ENSP00000353094.7:p.Asp288Gly|1147|863|288|D/G|gAc/gGc|rs1570474323||-1||SNV|HGNC|HGNC:24188|YES|NM_016176.6||1|P1|CCDS30553.2|ENSP00000353094||A0A5F9UP49.15|UPI0000205990|||deleterious(0)|probably_damaging(0.974)||||||||||||||||||||||||||||||||||||||||||MASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEETQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDRKKEFEELIDSNHDGIVTAEELESYMDPMNEYNALNEAKQMIAVADENQNHHLEPEEVLKYSEFFTGSKLVDYARSVHEEF||,C|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000379236|protein_coding||||||||||rs1570474323|4333|-1||SNV|HGNC|HGNC:11918|YES|NM_003327.4||1|P1|CCDS11.1|ENSP00000368538|P43489.186||UPI00001370E5||1||||||||||||||||||||||||||||||||||||||||||||MCVGARRLGRGPCAALLLLGLGLSTVTGLHCVGDTYPSNDRCCHECRPGNGMVSRCSRSQNTVCRPCGPGFYNDVVSSKPCKPCTWCNLRSGSERKQLCTATQDTVCRCRAGTQPLDSYKPGVDCAPCPPGHFSPGDNQACKPWTNCTLAGKHTLQPASNSSDAICEDRDPPATQPQETQGPPARPITVQPTEAWPRTSQGPSTRPVEVPGGRAVAAILGLGLVLGLLGPLAILLALYLLRRDQRLPPDAHKPPGGGSFRTPIQEEQADAHSTLAKI||,C|downstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000403997|protein_coding||||||||||rs1570474323|37|-1|cds_start_NF&cds_end_NF|SNV|HGNC|HGNC:24188||||3|||ENSP00000384207||H0Y3T6.65|UPI000059CF48||||||||||||||||||||||||||||||||||||||||||||||XLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEESSTSRNFLDLRAGVCRPRYPQAAPLSAQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDR||,C|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000453580|protein_coding_CDS_not_defined||||||||||rs1570474323|4988|-1||SNV|HGNC|HGNC:11918||||3||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000465727|nonsense_mediated_decay|6/7||ENST00000465727.5:c.*135A>G||1193|||||rs1570474323||-1||SNV|HGNC|HGNC:24188||||2|||ENSP00000435962||G3V1E2.100|UPI000045610D||||||||||||||||||||||||||||||||||||||||||||||MVWPWVAMASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEESCAPLSTGSPGEPEGPLVPGGQPPCRPAADGGGVPVVPPPRAQPGNAQVHGEGDRPGPGPGR||,C|non_coding_transcript_exon_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000478938|retained_intron|1/2||ENST00000478938.1:n.1808A>G||1808|||||rs1570474323||-1||SNV|HGNC|HGNC:24188||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000494748|retained_intron|2/3||ENST00000494748.1:n.2731A>G||2731|||||rs1570474323||-1||SNV|HGNC|HGNC:24188||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000497869|retained_intron||||||||||rs1570474323|4348|-1||SNV|HGNC|HGNC:11918||||2||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000699969|protein_coding||||||||||rs1570474323|4333|-1||SNV|HGNC|HGNC:11918|||||||ENSP00000514726||A0A8V8TPN6.3|UPI0020B0CB92||1||||||||||||||||||||||||||||||||||||||||||||MCVGARRLGRGPCAALLLLGLGLSTVTGLHCVGDTYPSNDRCCHECRPGNGMVSRCSRSQNTVCRPCGPGFYNDVVSSKPCKPCTWCNLRSGSERKQLCTATQDTVCRCRAGTQPLDSYKPGVGELGGCGRRLGVCIAAVCDADGPWAAGTWPHRCLLWHPQDRAPGCTLAGKHTLQPASNSSDAICEDRDPPATQPQETQGPPARPITVQPTEAWPRTSQGPSTRPVEVPGGRAVAAILGLGLVLGLLGPLAILLALYLLRRDQRLPPDAHKPPGGGSFRTPIQEEQADAHSTLAKI||,C|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000699970|non_stop_decay||||||||||rs1570474323|4353|-1||SNV|HGNC|HGNC:11918|||||||ENSP00000514727||A0A8V8TQV3.3|UPI0020B02740||1||||||||||||||||||||||||||||||||||||||||||||MCVGARRLGRGPCAALLLLGLGLSTVTGLHCVGDTYPSNDRCCHECRPGNGMVSRCSRSQNTVCRPCGPGFYNDVEVGVSGSSCARPHRTQSAAAGRAPSPWTATSLELTVPPALQGTSPQATTRPASPGPTAPWLGSTPCSRPAIARTQSVRTGTPQPRSPRRPRAPRPGPSLSSPLKPGPEPHRDPPPGPWRSPGAVRLPPSWAWAWCWGCWAPWPSCWPCTCSGGTRGCPPMPTSPLGEAVSGPPSKRSRPTPTPPWPRSDLGPPRWTLGPARLEPGGSAGRAGQVQAACPATLLGQLCTVLGADGCLRLSAYVCHAYLLPRGTTIKTLADG||,C|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000699971|protein_coding||||||||||rs1570474323|4333|-1||SNV|HGNC|HGNC:11918|||||||ENSP00000514728||A0A8V8TP52.3|UPI0020B071B7||1||||||||||||||||||||||||||||||||||||||||||||MCVGARRLGRGPCAALLLLGLGLSTVTGLHCVGDTYPSNDRCCHECRPGNGMVSRCSRSQNTVCRPCGPGFYNDVVSSKPCKPCTWCNLRSGSERKQLCTATQDTVCRCRAGTQPLDSYKPGVDCAPCPPGHFSPGDNQACKPWTNCTLAGKHTLQPASNSSDAICEDRDPPATQPQETQGPPARPITVQPTEAWPRTSQGPSTRPVEVPGGKGAWPSPAGPPTRIGEGEGGMGAPPVDPTQQTPSCRPCGCRHPGPGPGAGAAGPPGHPAGPVPAPEGPEAAPRCPQAPWGRQFPDPHPRGAGRRPLHPGQDLTWAHQGGRWAPPGWSPEGLLGEQGRCRPPAPPRSWANSAPF||,C|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000699972|retained_intron||||||||||rs1570474323|4333|-1||SNV|HGNC|HGNC:11918||||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000699973|nonsense_mediated_decay||||||||||rs1570474323|4333|-1||SNV|HGNC|HGNC:11918|||||||ENSP00000514729||A0A8V8TPH3.3|UPI0020B080BE||1||||||||||||||||||||||||||||||||||||||||||||MCVGARRLGRGPCAALLLLGLGLSTVTGLHCVGDTYPSNDRCCHECRPGNGMVSRCSRSQNTVCRPCGPGFYNDVVSSKPCKPCTWCNLRSGSERKQLCTATQDTVCRCRAGTQPLDSYKPGVGELGGCGRRLGVCIAAVCDADGPWAAGTWPHRCLLWHPQDRAPGLCPLPSRALLPRRQPGLQALDQLHLGWEAHPAAGQQ||,C|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000699974|protein_coding||||||||||rs1570474323|4333|-1||SNV|HGNC|HGNC:11918||||||CCDS90838.1|ENSP00000514730||A0A8V8TQH5.3|UPI000387C2CB||1||||||||||||||||||||||||||||||||||||||||||||MCVGARRLGRGPCAALLLLGLGLSTVTGLHCVGDTYPSNDRCCHECRPGNGMVSRCSRSQNTVCRPCGPGFYNDVVSSKPCKPCTWCNLRSGSERKQLCTATQDTVCRCRAGTQPLDSYKPGVDCAPCPPGHFSPGDNQACKPWTNCTLAGKHTLQPASNSSDAICEDRDPPATQPQETQGPPARPITVQPTEAWPRTSQGPSTRPVEVPGGRAVAAILGLGLVLGLLGPLAILLALYLLRRDQRLPPDAHKPPGECLMALPHCSWRVRPTHQSLLFSSPGGGSFRTPIQEEQADAHSTLAKI||,C|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000699975|protein_coding||||||||||rs1570474323|4333|-1||SNV|HGNC|HGNC:11918|||||||ENSP00000514731||A0A8V8TPP1.3|UPI0020B0EF97||1||||||||||||||||||||||||||||||||||||||||||||MCVGARRLGRGPCAALLLLGLGLSTVTGLHCVGDTYPSNDRCCHECRPGNGMVSRCSRSQNTVCRPCGPGFYNDVVSSKPCKPCTWCNLRSGSERKQLCTATQDTVCRCRAGTQPLDSYKPGVGRAVAAILGLGLVLGLLGPLAILLALYLLRRDQRLPPDAHKPPGGGSFRTPIQEEQADAHSTLAKI||,C|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000699976|protein_coding||||||||||rs1570474323|4333|-1||SNV|HGNC|HGNC:11918|||||||ENSP00000514732||A0A8V8TQV7.3|UPI0020AFDDC2||1||||||||||||||||||||||||||||||||||||||||||||MCVGARRLGRGPCAALLLLGLGLSTVTGLHCVGDTYPSNDRCCHECRPGNGMVSRCSRSQNTVCRPCGPGFYNDVVSSKPCKPCTWCNLRSGSERKQLCTATQDTVCRCRAGTQPLDSYKPGVDCAPCPPGHFSPGDNQACKPWTKPCGCRHPGPGPGAGAAGPPGHPAGPVPAPEGPEAAPRCPQAPWGRQFPDPHPRGAGRRPLHPGQDLTWAHQGGRWAPPGWSPEGLLGEQGRCRPPAPPRSWANSAPF||,C|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000699977|protein_coding||||||||||rs1570474323|4333|-1||SNV|HGNC|HGNC:11918|||||||ENSP00000514733||A0A8V8TP56.3|UPI0020B07D11||1||||||||||||||||||||||||||||||||||||||||||||MCVGARRLGRGPCAALLLLGLGLSTVTGLHCVGDTYPSNDRCCHECRPGNGMVSRCSRSQNTVCRPCGPGFYNDVVSSKPCKPCTWCNLRSGSERKQLCTATQDTVCRCRAGTQPLDSYKPGVDCAPCPPGHFSPGDNQACKPWTNCTLAGKHTLQPASNSSDAICEDRDPPATQPQETQGPPARPITVQPTEAWPRTSQGPSTRPVEVPGGGGSFRTPIQEEQADAHSTLAKI||,C|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000699978|non_stop_decay||||||||||rs1570474323|4333|-1||SNV|HGNC|HGNC:11918|||||||ENSP00000514734||A0A8V8TPH7.3|UPI0020B07990||1||||||||||||||||||||||||||||||||||||||||||||MCVGARRLGRGPCAALLLLGLGLSTVTGLHCVGDTYPSNDRCCHECRPGNGMEVGVSGSSCARPHRTQSAAAGRAPSPWTATSLELTVPPALQGTSPQATTRPASPGPTAPWLGSTPCSRPAIARTQSVRTGTPQPRSPRRPRAPRPGPSLSSPLKPGPEPHRDPPPGPWRSPGAVRLPPSWAWAWCWGCWAPWPSCWPCTCSGGTRGCPPMPTSPLGEAVSGPPSKRSRPTPTPPWPRSDLGPPRWTLGPARLEPGGSAGRAGQVQAACPATLLGQLCTVLGADGCLRLSAYVCHAYLLPRGTTIKTLAD||,C|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000699979|non_stop_decay||||||||||rs1570474323|4334|-1||SNV|HGNC|HGNC:11918|||||||ENSP00000514735||A0A8V8TQH9.3|UPI0020B09817||1||||||||||||||||||||||||||||||||||||||||||||MCVGARRLGRGPCAALLLLGLGLSTVTGLHCVGDTYPSNDRCCHECRPGNGMVSRCSRSQNTVCRPCGPGFYNDVVSSKPCKPCTWCNLRSGSERKQLCTATQDTVCRCRAGTQPLDSYKPGVAAPWLGSTPCSRPAIARTQSVRTGTPQPRSPRRPRAPRPGPSLSSPLKPGPEPHRDPPPGPWRSPGAVRLPPSWAWAWCWGCWAPWPSCWPCTCSGGTRGCPPMPTSPLGEAVSGPPSKRSRPTPTPPWPRSDLGPPRWTLGPARLEPGGSAGRAGQVQAACPATLLGQLCTVLGADGCLRLSAYVCHAYLLPRGTTIKTLA|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:39,2:0.066:41:6,0:20,1:27,1:21,18,1,1 -chr1 1218523 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=28%2C29|1%2C1;DP=61;ECNT=1;GERMQ=93;MBQ=32,34;MFRL=0,0;MMQ=60,60;MPOS=79;POPAF=7.3;TLOD=4.6;SRC=custom;GRP=custom;CSQ=C|missense_variant|MODERATE|SDF4|ENSG00000078808|Transcript|ENST00000263741|protein_coding|6/7||ENST00000263741.12:c.826A>G|ENSP00000263741.8:p.Lys276Glu|1140|826|276|K/E|Aaa/Gaa|||-1||SNV|HGNC|HGNC:24188||||1||CCDS12.2|ENSP00000263741||A0A5F9UJX7.15|UPI00114AF40C|||deleterious(0)|possibly_damaging(0.568)||||||||||||||||||||||||||||||||||||||||||MASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEETQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDRKKEFEELIDSNHDGIVTAEELENVPTLPLQPIGTLNSHFVRLAAELGGGKATLTCAPLARRATWTP||,C|missense_variant|MODERATE|SDF4|ENSG00000078808|Transcript|ENST00000360001|protein_coding|6/7||ENST00000360001.12:c.826A>G|ENSP00000353094.7:p.Lys276Glu|1110|826|276|K/E|Aaa/Gaa|||-1||SNV|HGNC|HGNC:24188|YES|NM_016176.6||1|P1|CCDS30553.2|ENSP00000353094||A0A5F9UP49.15|UPI0000205990|||deleterious(0)|benign(0.272)||||||||||||||||||||||||||||||||||||||||||MASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEETQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDRKKEFEELIDSNHDGIVTAEELESYMDPMNEYNALNEAKQMIAVADENQNHHLEPEEVLKYSEFFTGSKLVDYARSVHEEF||,C|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000379236|protein_coding|||||||||||4370|-1||SNV|HGNC|HGNC:11918|YES|NM_003327.4||1|P1|CCDS11.1|ENSP00000368538|P43489.186||UPI00001370E5||1||||||||||||||||||||||||||||||||||||||||||||MCVGARRLGRGPCAALLLLGLGLSTVTGLHCVGDTYPSNDRCCHECRPGNGMVSRCSRSQNTVCRPCGPGFYNDVVSSKPCKPCTWCNLRSGSERKQLCTATQDTVCRCRAGTQPLDSYKPGVDCAPCPPGHFSPGDNQACKPWTNCTLAGKHTLQPASNSSDAICEDRDPPATQPQETQGPPARPITVQPTEAWPRTSQGPSTRPVEVPGGRAVAAILGLGLVLGLLGPLAILLALYLLRRDQRLPPDAHKPPGGGSFRTPIQEEQADAHSTLAKI||,C|incomplete_terminal_codon_variant&coding_sequence_variant|LOW|SDF4|ENSG00000078808|Transcript|ENST00000403997|protein_coding|5/5||ENST00000403997.2:c.730A>G|ENSP00000384207.2:p.Ter244%3D|728|730|244|X|A/G|||-1|cds_start_NF&cds_end_NF|SNV|HGNC|HGNC:24188||||3|||ENSP00000384207||H0Y3T6.65|UPI000059CF48||||||||||||||||||||||||||||||||||||||||||||||XLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEESSTSRNFLDLRAGVCRPRYPQAAPLSAQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDR||,C|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000465727|nonsense_mediated_decay|6/7||ENST00000465727.5:c.*98A>G||1156|||||||-1||SNV|HGNC|HGNC:24188||||2|||ENSP00000435962||G3V1E2.100|UPI000045610D||||||||||||||||||||||||||||||||||||||||||||||MVWPWVAMASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEESCAPLSTGSPGEPEGPLVPGGQPPCRPAADGGGVPVVPPPRAQPGNAQVHGEGDRPGPGPGR||,C|non_coding_transcript_exon_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000478938|retained_intron|1/2||ENST00000478938.1:n.1771A>G||1771|||||||-1||SNV|HGNC|HGNC:24188||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000494748|retained_intron|2/3||ENST00000494748.1:n.2694A>G||2694|||||||-1||SNV|HGNC|HGNC:24188||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000497869|retained_intron|||||||||||4385|-1||SNV|HGNC|HGNC:11918||||2||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000699969|protein_coding|||||||||||4370|-1||SNV|HGNC|HGNC:11918|||||||ENSP00000514726||A0A8V8TPN6.3|UPI0020B0CB92||1||||||||||||||||||||||||||||||||||||||||||||MCVGARRLGRGPCAALLLLGLGLSTVTGLHCVGDTYPSNDRCCHECRPGNGMVSRCSRSQNTVCRPCGPGFYNDVVSSKPCKPCTWCNLRSGSERKQLCTATQDTVCRCRAGTQPLDSYKPGVGELGGCGRRLGVCIAAVCDADGPWAAGTWPHRCLLWHPQDRAPGCTLAGKHTLQPASNSSDAICEDRDPPATQPQETQGPPARPITVQPTEAWPRTSQGPSTRPVEVPGGRAVAAILGLGLVLGLLGPLAILLALYLLRRDQRLPPDAHKPPGGGSFRTPIQEEQADAHSTLAKI||,C|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000699970|non_stop_decay|||||||||||4390|-1||SNV|HGNC|HGNC:11918|||||||ENSP00000514727||A0A8V8TQV3.3|UPI0020B02740||1||||||||||||||||||||||||||||||||||||||||||||MCVGARRLGRGPCAALLLLGLGLSTVTGLHCVGDTYPSNDRCCHECRPGNGMVSRCSRSQNTVCRPCGPGFYNDVEVGVSGSSCARPHRTQSAAAGRAPSPWTATSLELTVPPALQGTSPQATTRPASPGPTAPWLGSTPCSRPAIARTQSVRTGTPQPRSPRRPRAPRPGPSLSSPLKPGPEPHRDPPPGPWRSPGAVRLPPSWAWAWCWGCWAPWPSCWPCTCSGGTRGCPPMPTSPLGEAVSGPPSKRSRPTPTPPWPRSDLGPPRWTLGPARLEPGGSAGRAGQVQAACPATLLGQLCTVLGADGCLRLSAYVCHAYLLPRGTTIKTLADG||,C|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000699971|protein_coding|||||||||||4370|-1||SNV|HGNC|HGNC:11918|||||||ENSP00000514728||A0A8V8TP52.3|UPI0020B071B7||1||||||||||||||||||||||||||||||||||||||||||||MCVGARRLGRGPCAALLLLGLGLSTVTGLHCVGDTYPSNDRCCHECRPGNGMVSRCSRSQNTVCRPCGPGFYNDVVSSKPCKPCTWCNLRSGSERKQLCTATQDTVCRCRAGTQPLDSYKPGVDCAPCPPGHFSPGDNQACKPWTNCTLAGKHTLQPASNSSDAICEDRDPPATQPQETQGPPARPITVQPTEAWPRTSQGPSTRPVEVPGGKGAWPSPAGPPTRIGEGEGGMGAPPVDPTQQTPSCRPCGCRHPGPGPGAGAAGPPGHPAGPVPAPEGPEAAPRCPQAPWGRQFPDPHPRGAGRRPLHPGQDLTWAHQGGRWAPPGWSPEGLLGEQGRCRPPAPPRSWANSAPF||,C|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000699972|retained_intron|||||||||||4370|-1||SNV|HGNC|HGNC:11918||||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000699973|nonsense_mediated_decay|||||||||||4370|-1||SNV|HGNC|HGNC:11918|||||||ENSP00000514729||A0A8V8TPH3.3|UPI0020B080BE||1||||||||||||||||||||||||||||||||||||||||||||MCVGARRLGRGPCAALLLLGLGLSTVTGLHCVGDTYPSNDRCCHECRPGNGMVSRCSRSQNTVCRPCGPGFYNDVVSSKPCKPCTWCNLRSGSERKQLCTATQDTVCRCRAGTQPLDSYKPGVGELGGCGRRLGVCIAAVCDADGPWAAGTWPHRCLLWHPQDRAPGLCPLPSRALLPRRQPGLQALDQLHLGWEAHPAAGQQ||,C|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000699974|protein_coding|||||||||||4370|-1||SNV|HGNC|HGNC:11918||||||CCDS90838.1|ENSP00000514730||A0A8V8TQH5.3|UPI000387C2CB||1||||||||||||||||||||||||||||||||||||||||||||MCVGARRLGRGPCAALLLLGLGLSTVTGLHCVGDTYPSNDRCCHECRPGNGMVSRCSRSQNTVCRPCGPGFYNDVVSSKPCKPCTWCNLRSGSERKQLCTATQDTVCRCRAGTQPLDSYKPGVDCAPCPPGHFSPGDNQACKPWTNCTLAGKHTLQPASNSSDAICEDRDPPATQPQETQGPPARPITVQPTEAWPRTSQGPSTRPVEVPGGRAVAAILGLGLVLGLLGPLAILLALYLLRRDQRLPPDAHKPPGECLMALPHCSWRVRPTHQSLLFSSPGGGSFRTPIQEEQADAHSTLAKI||,C|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000699975|protein_coding|||||||||||4370|-1||SNV|HGNC|HGNC:11918|||||||ENSP00000514731||A0A8V8TPP1.3|UPI0020B0EF97||1||||||||||||||||||||||||||||||||||||||||||||MCVGARRLGRGPCAALLLLGLGLSTVTGLHCVGDTYPSNDRCCHECRPGNGMVSRCSRSQNTVCRPCGPGFYNDVVSSKPCKPCTWCNLRSGSERKQLCTATQDTVCRCRAGTQPLDSYKPGVGRAVAAILGLGLVLGLLGPLAILLALYLLRRDQRLPPDAHKPPGGGSFRTPIQEEQADAHSTLAKI||,C|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000699976|protein_coding|||||||||||4370|-1||SNV|HGNC|HGNC:11918|||||||ENSP00000514732||A0A8V8TQV7.3|UPI0020AFDDC2||1||||||||||||||||||||||||||||||||||||||||||||MCVGARRLGRGPCAALLLLGLGLSTVTGLHCVGDTYPSNDRCCHECRPGNGMVSRCSRSQNTVCRPCGPGFYNDVVSSKPCKPCTWCNLRSGSERKQLCTATQDTVCRCRAGTQPLDSYKPGVDCAPCPPGHFSPGDNQACKPWTKPCGCRHPGPGPGAGAAGPPGHPAGPVPAPEGPEAAPRCPQAPWGRQFPDPHPRGAGRRPLHPGQDLTWAHQGGRWAPPGWSPEGLLGEQGRCRPPAPPRSWANSAPF||,C|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000699977|protein_coding|||||||||||4370|-1||SNV|HGNC|HGNC:11918|||||||ENSP00000514733||A0A8V8TP56.3|UPI0020B07D11||1||||||||||||||||||||||||||||||||||||||||||||MCVGARRLGRGPCAALLLLGLGLSTVTGLHCVGDTYPSNDRCCHECRPGNGMVSRCSRSQNTVCRPCGPGFYNDVVSSKPCKPCTWCNLRSGSERKQLCTATQDTVCRCRAGTQPLDSYKPGVDCAPCPPGHFSPGDNQACKPWTNCTLAGKHTLQPASNSSDAICEDRDPPATQPQETQGPPARPITVQPTEAWPRTSQGPSTRPVEVPGGGGSFRTPIQEEQADAHSTLAKI||,C|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000699978|non_stop_decay|||||||||||4370|-1||SNV|HGNC|HGNC:11918|||||||ENSP00000514734||A0A8V8TPH7.3|UPI0020B07990||1||||||||||||||||||||||||||||||||||||||||||||MCVGARRLGRGPCAALLLLGLGLSTVTGLHCVGDTYPSNDRCCHECRPGNGMEVGVSGSSCARPHRTQSAAAGRAPSPWTATSLELTVPPALQGTSPQATTRPASPGPTAPWLGSTPCSRPAIARTQSVRTGTPQPRSPRRPRAPRPGPSLSSPLKPGPEPHRDPPPGPWRSPGAVRLPPSWAWAWCWGCWAPWPSCWPCTCSGGTRGCPPMPTSPLGEAVSGPPSKRSRPTPTPPWPRSDLGPPRWTLGPARLEPGGSAGRAGQVQAACPATLLGQLCTVLGADGCLRLSAYVCHAYLLPRGTTIKTLAD||,C|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000699979|non_stop_decay|||||||||||4371|-1||SNV|HGNC|HGNC:11918|||||||ENSP00000514735||A0A8V8TQH9.3|UPI0020B09817||1||||||||||||||||||||||||||||||||||||||||||||MCVGARRLGRGPCAALLLLGLGLSTVTGLHCVGDTYPSNDRCCHECRPGNGMVSRCSRSQNTVCRPCGPGFYNDVVSSKPCKPCTWCNLRSGSERKQLCTATQDTVCRCRAGTQPLDSYKPGVAAPWLGSTPCSRPAIARTQSVRTGTPQPRSPRRPRAPRPGPSLSSPLKPGPEPHRDPPPGPWRSPGAVRLPPSWAWAWCWGCWAPWPSCWPCTCSGGTRGCPPMPTSPLGEAVSGPPSKRSRPTPTPPWPRSDLGPPRWTLGPARLEPGGSAGRAGQVQAACPATLLGQLCTVLGADGCLRLSAYVCHAYLLPRGTTIKTLA|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:57,2:0.057:59:4,0:28,1:32,1:28,29,1,1 -chr1 1220203 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=10%2C12|1%2C1;DP=24;ECNT=1;GERMQ=76;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=21;POPAF=7.3;TLOD=5.43;SRC=custom;GRP=custom;CSQ=C|intron_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000263741|protein_coding||4/6|ENST00000263741.12:c.557-1276A>G|||||||rs990127210||-1||SNV|HGNC|HGNC:24188||||1||CCDS12.2|ENSP00000263741||A0A5F9UJX7.15|UPI00114AF40C|||||||||||||||||||||||1.314e-05|0|0|0|0|0|0|0|1.47e-05|0|0.0002072|0.0002072|gnomADg_SAS|||||||||||MASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEETQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDRKKEFEELIDSNHDGIVTAEELENVPTLPLQPIGTLNSHFVRLAAELGGGKATLTCAPLARRATWTP||,C|intron_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000360001|protein_coding||4/6|ENST00000360001.12:c.557-1276A>G|||||||rs990127210||-1||SNV|HGNC|HGNC:24188|YES|NM_016176.6||1|P1|CCDS30553.2|ENSP00000353094||A0A5F9UP49.15|UPI0000205990|||||||||||||||||||||||1.314e-05|0|0|0|0|0|0|0|1.47e-05|0|0.0002072|0.0002072|gnomADg_SAS|||||||||||MASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEETQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDRKKEFEELIDSNHDGIVTAEELESYMDPMNEYNALNEAKQMIAVADENQNHHLEPEEVLKYSEFFTGSKLVDYARSVHEEF||,C|intron_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000403997|protein_coding||3/4|ENST00000403997.2:c.381-1198A>G|||||||rs990127210||-1|cds_start_NF&cds_end_NF|SNV|HGNC|HGNC:24188||||3|||ENSP00000384207||H0Y3T6.65|UPI000059CF48|||||||||||||||||||||||1.314e-05|0|0|0|0|0|0|0|1.47e-05|0|0.0002072|0.0002072|gnomADg_SAS|||||||||||XLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEESSTSRNFLDLRAGVCRPRYPQAAPLSAQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDR||,C|intron_variant&NMD_transcript_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000465727|nonsense_mediated_decay||4/6|ENST00000465727.5:c.578-1260A>G|||||||rs990127210||-1||SNV|HGNC|HGNC:24188||||2|||ENSP00000435962||G3V1E2.100|UPI000045610D|||||||||||||||||||||||1.314e-05|0|0|0|0|0|0|0|1.47e-05|0|0.0002072|0.0002072|gnomADg_SAS|||||||||||MVWPWVAMASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEESCAPLSTGSPGEPEGPLVPGGQPPCRPAADGGGVPVVPPPRAQPGNAQVHGEGDRPGPGPGR||,C|non_coding_transcript_exon_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000478938|retained_intron|1/2||ENST00000478938.1:n.91A>G||91|||||rs990127210||-1||SNV|HGNC|HGNC:24188||||2|||||||||||||||||||||||||||||1.314e-05|0|0|0|0|0|0|0|1.47e-05|0|0.0002072|0.0002072|gnomADg_SAS|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000494748|retained_intron|1/3||ENST00000494748.1:n.1149A>G||1149|||||rs990127210||-1||SNV|HGNC|HGNC:24188||||2|||||||||||||||||||||||||||||1.314e-05|0|0|0|0|0|0|0|1.47e-05|0|0.0002072|0.0002072|gnomADg_SAS|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918420|enhancer||||||||||rs990127210||||SNV|||||||||||||||||||||||||||||||||||1.314e-05|0|0|0|0|0|0|0|1.47e-05|0|0.0002072|0.0002072|gnomADg_SAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:22,2:0.125:24:3,0:8,1:13,1:10,12,1,1 -chr1 1221034 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C4|1%2C1;DP=8;ECNT=1;GERMQ=42;MBQ=34,34;MFRL=0,0;MMQ=60,60;MPOS=75;POPAF=7.3;TLOD=6.18;SRC=custom;GRP=custom;CSQ=T|intron_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000263741|protein_coding||4/6|ENST00000263741.12:c.557-2107G>A|||||||rs923613541||-1||SNV|HGNC|HGNC:24188||||1||CCDS12.2|ENSP00000263741||A0A5F9UJX7.15|UPI00114AF40C|||||||||||||||||||||||6.569e-06|0|0|0|0|0|9.413e-05|0|0|0|0|9.413e-05|gnomADg_FIN|||||||||||MASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEETQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDRKKEFEELIDSNHDGIVTAEELENVPTLPLQPIGTLNSHFVRLAAELGGGKATLTCAPLARRATWTP||,T|intron_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000360001|protein_coding||4/6|ENST00000360001.12:c.557-2107G>A|||||||rs923613541||-1||SNV|HGNC|HGNC:24188|YES|NM_016176.6||1|P1|CCDS30553.2|ENSP00000353094||A0A5F9UP49.15|UPI0000205990|||||||||||||||||||||||6.569e-06|0|0|0|0|0|9.413e-05|0|0|0|0|9.413e-05|gnomADg_FIN|||||||||||MASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEETQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDRKKEFEELIDSNHDGIVTAEELESYMDPMNEYNALNEAKQMIAVADENQNHHLEPEEVLKYSEFFTGSKLVDYARSVHEEF||,T|intron_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000403997|protein_coding||3/4|ENST00000403997.2:c.381-2029G>A|||||||rs923613541||-1|cds_start_NF&cds_end_NF|SNV|HGNC|HGNC:24188||||3|||ENSP00000384207||H0Y3T6.65|UPI000059CF48|||||||||||||||||||||||6.569e-06|0|0|0|0|0|9.413e-05|0|0|0|0|9.413e-05|gnomADg_FIN|||||||||||XLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEESSTSRNFLDLRAGVCRPRYPQAAPLSAQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDR||,T|intron_variant&NMD_transcript_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000465727|nonsense_mediated_decay||4/6|ENST00000465727.5:c.578-2091G>A|||||||rs923613541||-1||SNV|HGNC|HGNC:24188||||2|||ENSP00000435962||G3V1E2.100|UPI000045610D|||||||||||||||||||||||6.569e-06|0|0|0|0|0|9.413e-05|0|0|0|0|9.413e-05|gnomADg_FIN|||||||||||MVWPWVAMASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEESCAPLSTGSPGEPEGPLVPGGQPPCRPAADGGGVPVVPPPRAQPGNAQVHGEGDRPGPGPGR||,T|upstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000478938|retained_intron||||||||||rs923613541|741|-1||SNV|HGNC|HGNC:24188||||2|||||||||||||||||||||||||||||6.569e-06|0|0|0|0|0|9.413e-05|0|0|0|0|9.413e-05|gnomADg_FIN|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000494748|retained_intron|1/3||ENST00000494748.1:n.318G>A||318|||||rs923613541||-1||SNV|HGNC|HGNC:24188||||2|||||||||||||||||||||||||||||6.569e-06|0|0|0|0|0|9.413e-05|0|0|0|0|9.413e-05|gnomADg_FIN||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,2:0.286:8:1,0:2,1:4,1:2,4,1,1 -chr1 1221498 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C2|2%2C2;DP=6;ECNT=1;GERMQ=36;MBQ=32,35;MFRL=0,0;MMQ=60,60;MPOS=91;POPAF=7.3;TLOD=13.93;SRC=custom;GRP=custom;CSQ=C|intron_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000263741|protein_coding||4/6|ENST00000263741.12:c.556+1746A>G|||||||||-1||SNV|HGNC|HGNC:24188||||1||CCDS12.2|ENSP00000263741||A0A5F9UJX7.15|UPI00114AF40C||||||||||||||||||||||||||||||||||||||||||||||MASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEETQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDRKKEFEELIDSNHDGIVTAEELENVPTLPLQPIGTLNSHFVRLAAELGGGKATLTCAPLARRATWTP||,C|intron_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000360001|protein_coding||4/6|ENST00000360001.12:c.556+1746A>G|||||||||-1||SNV|HGNC|HGNC:24188|YES|NM_016176.6||1|P1|CCDS30553.2|ENSP00000353094||A0A5F9UP49.15|UPI0000205990||||||||||||||||||||||||||||||||||||||||||||||MASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEETQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDRKKEFEELIDSNHDGIVTAEELESYMDPMNEYNALNEAKQMIAVADENQNHHLEPEEVLKYSEFFTGSKLVDYARSVHEEF||,C|intron_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000403997|protein_coding||3/4|ENST00000403997.2:c.380+1746A>G|||||||||-1|cds_start_NF&cds_end_NF|SNV|HGNC|HGNC:24188||||3|||ENSP00000384207||H0Y3T6.65|UPI000059CF48||||||||||||||||||||||||||||||||||||||||||||||XLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEESSTSRNFLDLRAGVCRPRYPQAAPLSAQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDR||,C|intron_variant&NMD_transcript_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000465727|nonsense_mediated_decay||4/6|ENST00000465727.5:c.577+1746A>G|||||||||-1||SNV|HGNC|HGNC:24188||||2|||ENSP00000435962||G3V1E2.100|UPI000045610D||||||||||||||||||||||||||||||||||||||||||||||MVWPWVAMASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEESCAPLSTGSPGEPEGPLVPGGQPPCRPAADGGGVPVVPPPRAQPGNAQVHGEGDRPGPGPGR||,C|upstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000478938|retained_intron|||||||||||1205|-1||SNV|HGNC|HGNC:24188||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000494748|retained_intron|||||||||||147|-1||SNV|HGNC|HGNC:24188||||2|||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,4:0.5:6:1,0:0,2:2,2:0,2,2,2 -chr1 1221498 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C2|2%2C2;DP=8;ECNT=2;GERMQ=36;MBQ=32,32;MFRL=0,0;MMQ=60,60;MPOS=83;POPAF=7.3;TLOD=15.38;SRC=custom;GRP=custom;CSQ=C|intron_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000263741|protein_coding||4/6|ENST00000263741.12:c.556+1746A>G|||||||||-1||SNV|HGNC|HGNC:24188||||1||CCDS12.2|ENSP00000263741||A0A5F9UJX7.15|UPI00114AF40C||||||||||||||||||||||||||||||||||||||||||||||MASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEETQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDRKKEFEELIDSNHDGIVTAEELENVPTLPLQPIGTLNSHFVRLAAELGGGKATLTCAPLARRATWTP||,C|intron_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000360001|protein_coding||4/6|ENST00000360001.12:c.556+1746A>G|||||||||-1||SNV|HGNC|HGNC:24188|YES|NM_016176.6||1|P1|CCDS30553.2|ENSP00000353094||A0A5F9UP49.15|UPI0000205990||||||||||||||||||||||||||||||||||||||||||||||MASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEETQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDRKKEFEELIDSNHDGIVTAEELESYMDPMNEYNALNEAKQMIAVADENQNHHLEPEEVLKYSEFFTGSKLVDYARSVHEEF||,C|intron_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000403997|protein_coding||3/4|ENST00000403997.2:c.380+1746A>G|||||||||-1|cds_start_NF&cds_end_NF|SNV|HGNC|HGNC:24188||||3|||ENSP00000384207||H0Y3T6.65|UPI000059CF48||||||||||||||||||||||||||||||||||||||||||||||XLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEESSTSRNFLDLRAGVCRPRYPQAAPLSAQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDR||,C|intron_variant&NMD_transcript_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000465727|nonsense_mediated_decay||4/6|ENST00000465727.5:c.577+1746A>G|||||||||-1||SNV|HGNC|HGNC:24188||||2|||ENSP00000435962||G3V1E2.100|UPI000045610D||||||||||||||||||||||||||||||||||||||||||||||MVWPWVAMASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEESCAPLSTGSPGEPEGPLVPGGQPPCRPAADGGGVPVVPPPRAQPGNAQVHGEGDRPGPGPGR||,C|upstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000478938|retained_intron|||||||||||1205|-1||SNV|HGNC|HGNC:24188||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000494748|retained_intron|||||||||||147|-1||SNV|HGNC|HGNC:24188||||2|||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:4,4:0.5:8:0,0:2,2:2,2:0|1:1221498_T_C:1221498:2,2,2,2 -chr1 1221502 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C3|1%2C1;DP=8;ECNT=2;GERMQ=41;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=32;POPAF=7.3;TLOD=5.95;SRC=custom;GRP=custom;CSQ=C|intron_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000263741|protein_coding||4/6|ENST00000263741.12:c.556+1742A>G|||||||||-1||SNV|HGNC|HGNC:24188||||1||CCDS12.2|ENSP00000263741||A0A5F9UJX7.15|UPI00114AF40C||||||||||||||||||||||||||||||||||||||||||||||MASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEETQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDRKKEFEELIDSNHDGIVTAEELENVPTLPLQPIGTLNSHFVRLAAELGGGKATLTCAPLARRATWTP||,C|intron_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000360001|protein_coding||4/6|ENST00000360001.12:c.556+1742A>G|||||||||-1||SNV|HGNC|HGNC:24188|YES|NM_016176.6||1|P1|CCDS30553.2|ENSP00000353094||A0A5F9UP49.15|UPI0000205990||||||||||||||||||||||||||||||||||||||||||||||MASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEETQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDRKKEFEELIDSNHDGIVTAEELESYMDPMNEYNALNEAKQMIAVADENQNHHLEPEEVLKYSEFFTGSKLVDYARSVHEEF||,C|intron_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000403997|protein_coding||3/4|ENST00000403997.2:c.380+1742A>G|||||||||-1|cds_start_NF&cds_end_NF|SNV|HGNC|HGNC:24188||||3|||ENSP00000384207||H0Y3T6.65|UPI000059CF48||||||||||||||||||||||||||||||||||||||||||||||XLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEESSTSRNFLDLRAGVCRPRYPQAAPLSAQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDR||,C|intron_variant&NMD_transcript_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000465727|nonsense_mediated_decay||4/6|ENST00000465727.5:c.577+1742A>G|||||||||-1||SNV|HGNC|HGNC:24188||||2|||ENSP00000435962||G3V1E2.100|UPI000045610D||||||||||||||||||||||||||||||||||||||||||||||MVWPWVAMASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEESCAPLSTGSPGEPEGPLVPGGQPPCRPAADGGGVPVVPPPRAQPGNAQVHGEGDRPGPGPGR||,C|upstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000478938|retained_intron|||||||||||1209|-1||SNV|HGNC|HGNC:24188||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000494748|retained_intron|||||||||||151|-1||SNV|HGNC|HGNC:24188||||2|||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:6,2:0.333:8:0,0:3,1:3,1:0|1:1221498_T_C:1221498:3,3,1,1 -chr1 1222080 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5%2C6|3%2C3;DP=17;ECNT=1;GERMQ=39;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=30;POPAF=7.3;TLOD=18.64;SRC=custom;GRP=custom;CSQ=C|intron_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000263741|protein_coding||4/6|ENST00000263741.12:c.556+1164A>G|||||||||-1||SNV|HGNC|HGNC:24188||||1||CCDS12.2|ENSP00000263741||A0A5F9UJX7.15|UPI00114AF40C||||||||||||||||||||||||||||||||||||||||||||||MASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEETQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDRKKEFEELIDSNHDGIVTAEELENVPTLPLQPIGTLNSHFVRLAAELGGGKATLTCAPLARRATWTP||,C|intron_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000360001|protein_coding||4/6|ENST00000360001.12:c.556+1164A>G|||||||||-1||SNV|HGNC|HGNC:24188|YES|NM_016176.6||1|P1|CCDS30553.2|ENSP00000353094||A0A5F9UP49.15|UPI0000205990||||||||||||||||||||||||||||||||||||||||||||||MASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEETQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDRKKEFEELIDSNHDGIVTAEELESYMDPMNEYNALNEAKQMIAVADENQNHHLEPEEVLKYSEFFTGSKLVDYARSVHEEF||,C|intron_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000403997|protein_coding||3/4|ENST00000403997.2:c.380+1164A>G|||||||||-1|cds_start_NF&cds_end_NF|SNV|HGNC|HGNC:24188||||3|||ENSP00000384207||H0Y3T6.65|UPI000059CF48||||||||||||||||||||||||||||||||||||||||||||||XLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEESSTSRNFLDLRAGVCRPRYPQAAPLSAQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDR||,C|intron_variant&NMD_transcript_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000465727|nonsense_mediated_decay||4/6|ENST00000465727.5:c.577+1164A>G|||||||||-1||SNV|HGNC|HGNC:24188||||2|||ENSP00000435962||G3V1E2.100|UPI000045610D||||||||||||||||||||||||||||||||||||||||||||||MVWPWVAMASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEESCAPLSTGSPGEPEGPLVPGGQPPCRPAADGGGVPVVPPPRAQPGNAQVHGEGDRPGPGPGR||,C|upstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000478938|retained_intron|||||||||||1787|-1||SNV|HGNC|HGNC:24188||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000494748|retained_intron|||||||||||729|-1||SNV|HGNC|HGNC:24188||||2|||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:11,6:0.364:17:1,0:5,3:6,3:5,6,3,3 -chr1 1222864 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C2|1%2C1;DP=6;ECNT=1;GERMQ=39;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=40;POPAF=7.3;TLOD=6.37;SRC=custom;GRP=custom;CSQ=A|intron_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000263741|protein_coding||4/6|ENST00000263741.12:c.556+380C>T|||||||||-1||SNV|HGNC|HGNC:24188||||1||CCDS12.2|ENSP00000263741||A0A5F9UJX7.15|UPI00114AF40C||||||||||||||||||||||||||||||||||||||||||||||MASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEETQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDRKKEFEELIDSNHDGIVTAEELENVPTLPLQPIGTLNSHFVRLAAELGGGKATLTCAPLARRATWTP||,A|intron_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000360001|protein_coding||4/6|ENST00000360001.12:c.556+380C>T|||||||||-1||SNV|HGNC|HGNC:24188|YES|NM_016176.6||1|P1|CCDS30553.2|ENSP00000353094||A0A5F9UP49.15|UPI0000205990||||||||||||||||||||||||||||||||||||||||||||||MASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEETQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDRKKEFEELIDSNHDGIVTAEELESYMDPMNEYNALNEAKQMIAVADENQNHHLEPEEVLKYSEFFTGSKLVDYARSVHEEF||,A|intron_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000403997|protein_coding||3/4|ENST00000403997.2:c.380+380C>T|||||||||-1|cds_start_NF&cds_end_NF|SNV|HGNC|HGNC:24188||||3|||ENSP00000384207||H0Y3T6.65|UPI000059CF48||||||||||||||||||||||||||||||||||||||||||||||XLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEESSTSRNFLDLRAGVCRPRYPQAAPLSAQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDR||,A|downstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000459994|protein_coding_CDS_not_defined|||||||||||4408|-1||SNV|HGNC|HGNC:24188||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000465727|nonsense_mediated_decay||4/6|ENST00000465727.5:c.577+380C>T|||||||||-1||SNV|HGNC|HGNC:24188||||2|||ENSP00000435962||G3V1E2.100|UPI000045610D||||||||||||||||||||||||||||||||||||||||||||||MVWPWVAMASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEESCAPLSTGSPGEPEGPLVPGGQPPCRPAADGGGVPVVPPPRAQPGNAQVHGEGDRPGPGPGR||,A|upstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000478938|retained_intron|||||||||||2571|-1||SNV|HGNC|HGNC:24188||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000494748|retained_intron|||||||||||1513|-1||SNV|HGNC|HGNC:24188||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164823|enhancer||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,2:0.4:6:0,0:2,1:2,1:2,2,1,1 -chr1 1223251 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|6%2C8;DP=26;ECNT=1;GERMQ=53;MBQ=31,33;MFRL=0,0;MMQ=60,60;MPOS=70;POPAF=7.3;TLOD=48.36;SRC=custom;GRP=custom;CSQ=G|synonymous_variant|LOW|SDF4|ENSG00000078808|Transcript|ENST00000263741|protein_coding|4/7||ENST00000263741.12:c.549T>C|ENSP00000263741.8:p.Asp183%3D|863|549|183|D|gaT/gaC|rs6603781&COSV55420653||-1||SNV|HGNC|HGNC:24188||||1||CCDS12.2|ENSP00000263741||A0A5F9UJX7.15|UPI00114AF40C||||||||0.9533|0.9985|0.9294|1|0.8608|0.956|0.9144|0.9834|0.9508|0.8568|0.9998|0.8519|0.8879|0.9053|0.9485|0.9188|0.9801|0.8333|0.9182|0.856|0.9998|0.8502|0.8829|0.8887|0.903|0.9535|1|EAS||0&1|0&1||||||||MASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEETQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDRKKEFEELIDSNHDGIVTAEELENVPTLPLQPIGTLNSHFVRLAAELGGGKATLTCAPLARRATWTP||,G|synonymous_variant|LOW|SDF4|ENSG00000078808|Transcript|ENST00000360001|protein_coding|4/7||ENST00000360001.12:c.549T>C|ENSP00000353094.7:p.Asp183%3D|833|549|183|D|gaT/gaC|rs6603781&COSV55420653||-1||SNV|HGNC|HGNC:24188|YES|NM_016176.6||1|P1|CCDS30553.2|ENSP00000353094||A0A5F9UP49.15|UPI0000205990||||||||0.9533|0.9985|0.9294|1|0.8608|0.956|0.9144|0.9834|0.9508|0.8568|0.9998|0.8519|0.8879|0.9053|0.9485|0.9188|0.9801|0.8333|0.9182|0.856|0.9998|0.8502|0.8829|0.8887|0.903|0.9535|1|EAS||0&1|0&1||||||||MASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEETQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDRKKEFEELIDSNHDGIVTAEELESYMDPMNEYNALNEAKQMIAVADENQNHHLEPEEVLKYSEFFTGSKLVDYARSVHEEF||,G|synonymous_variant|LOW|SDF4|ENSG00000078808|Transcript|ENST00000403997|protein_coding|3/5||ENST00000403997.2:c.375T>C|ENSP00000384207.2:p.Asp125%3D|373|375|125|D|gaT/gaC|rs6603781&COSV55420653||-1|cds_start_NF&cds_end_NF|SNV|HGNC|HGNC:24188||||3|||ENSP00000384207||H0Y3T6.65|UPI000059CF48||||||||0.9533|0.9985|0.9294|1|0.8608|0.956|0.9144|0.9834|0.9508|0.8568|0.9998|0.8519|0.8879|0.9053|0.9485|0.9188|0.9801|0.8333|0.9182|0.856|0.9998|0.8502|0.8829|0.8887|0.903|0.9535|1|EAS||0&1|0&1||||||||XLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEESSTSRNFLDLRAGVCRPRYPQAAPLSAQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDR||,G|downstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000459994|protein_coding_CDS_not_defined||||||||||rs6603781&COSV55420653|4021|-1||SNV|HGNC|HGNC:24188||||5||||||||||||||0.9533|0.9985|0.9294|1|0.8608|0.956|0.9144|0.9834|0.9508|0.8568|0.9998|0.8519|0.8879|0.9053|0.9485|0.9188|0.9801|0.8333|0.9182|0.856|0.9998|0.8502|0.8829|0.8887|0.903|0.9535|1|EAS||0&1|0&1||||||||||,G|synonymous_variant&NMD_transcript_variant|LOW|SDF4|ENSG00000078808|Transcript|ENST00000465727|nonsense_mediated_decay|4/7||ENST00000465727.5:c.570T>C|ENSP00000435962.1:p.Asp190%3D|863|570|190|D|gaT/gaC|rs6603781&COSV55420653||-1||SNV|HGNC|HGNC:24188||||2|||ENSP00000435962||G3V1E2.100|UPI000045610D||||||||0.9533|0.9985|0.9294|1|0.8608|0.956|0.9144|0.9834|0.9508|0.8568|0.9998|0.8519|0.8879|0.9053|0.9485|0.9188|0.9801|0.8333|0.9182|0.856|0.9998|0.8502|0.8829|0.8887|0.903|0.9535|1|EAS||0&1|0&1||||||||MVWPWVAMASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEESCAPLSTGSPGEPEGPLVPGGQPPCRPAADGGGVPVVPPPRAQPGNAQVHGEGDRPGPGPGR||,G|upstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000478938|retained_intron||||||||||rs6603781&COSV55420653|2958|-1||SNV|HGNC|HGNC:24188||||2||||||||||||||0.9533|0.9985|0.9294|1|0.8608|0.956|0.9144|0.9834|0.9508|0.8568|0.9998|0.8519|0.8879|0.9053|0.9485|0.9188|0.9801|0.8333|0.9182|0.856|0.9998|0.8502|0.8829|0.8887|0.903|0.9535|1|EAS||0&1|0&1||||||||||,G|upstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000494748|retained_intron||||||||||rs6603781&COSV55420653|1900|-1||SNV|HGNC|HGNC:24188||||2||||||||||||||0.9533|0.9985|0.9294|1|0.8608|0.956|0.9144|0.9834|0.9508|0.8568|0.9998|0.8519|0.8879|0.9053|0.9485|0.9188|0.9801|0.8333|0.9182|0.856|0.9998|0.8502|0.8829|0.8887|0.903|0.9535|1|EAS||0&1|0&1|||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,14:0.842:16:0,3:1,6:1,9:1,1,6,8 -chr1 1223251 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|6%2C10;DP=27;ECNT=1;GERMQ=88;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=79;POPAF=7.3;TLOD=59.3;SRC=custom;GRP=custom;CSQ=G|synonymous_variant|LOW|SDF4|ENSG00000078808|Transcript|ENST00000263741|protein_coding|4/7||ENST00000263741.12:c.549T>C|ENSP00000263741.8:p.Asp183%3D|863|549|183|D|gaT/gaC|rs6603781&COSV55420653||-1||SNV|HGNC|HGNC:24188||||1||CCDS12.2|ENSP00000263741||A0A5F9UJX7.15|UPI00114AF40C||||||||0.9533|0.9985|0.9294|1|0.8608|0.956|0.9144|0.9834|0.9508|0.8568|0.9998|0.8519|0.8879|0.9053|0.9485|0.9188|0.9801|0.8333|0.9182|0.856|0.9998|0.8502|0.8829|0.8887|0.903|0.9535|1|EAS||0&1|0&1||||||||MASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEETQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDRKKEFEELIDSNHDGIVTAEELENVPTLPLQPIGTLNSHFVRLAAELGGGKATLTCAPLARRATWTP||,G|synonymous_variant|LOW|SDF4|ENSG00000078808|Transcript|ENST00000360001|protein_coding|4/7||ENST00000360001.12:c.549T>C|ENSP00000353094.7:p.Asp183%3D|833|549|183|D|gaT/gaC|rs6603781&COSV55420653||-1||SNV|HGNC|HGNC:24188|YES|NM_016176.6||1|P1|CCDS30553.2|ENSP00000353094||A0A5F9UP49.15|UPI0000205990||||||||0.9533|0.9985|0.9294|1|0.8608|0.956|0.9144|0.9834|0.9508|0.8568|0.9998|0.8519|0.8879|0.9053|0.9485|0.9188|0.9801|0.8333|0.9182|0.856|0.9998|0.8502|0.8829|0.8887|0.903|0.9535|1|EAS||0&1|0&1||||||||MASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEETQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDRKKEFEELIDSNHDGIVTAEELESYMDPMNEYNALNEAKQMIAVADENQNHHLEPEEVLKYSEFFTGSKLVDYARSVHEEF||,G|synonymous_variant|LOW|SDF4|ENSG00000078808|Transcript|ENST00000403997|protein_coding|3/5||ENST00000403997.2:c.375T>C|ENSP00000384207.2:p.Asp125%3D|373|375|125|D|gaT/gaC|rs6603781&COSV55420653||-1|cds_start_NF&cds_end_NF|SNV|HGNC|HGNC:24188||||3|||ENSP00000384207||H0Y3T6.65|UPI000059CF48||||||||0.9533|0.9985|0.9294|1|0.8608|0.956|0.9144|0.9834|0.9508|0.8568|0.9998|0.8519|0.8879|0.9053|0.9485|0.9188|0.9801|0.8333|0.9182|0.856|0.9998|0.8502|0.8829|0.8887|0.903|0.9535|1|EAS||0&1|0&1||||||||XLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEESSTSRNFLDLRAGVCRPRYPQAAPLSAQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDR||,G|downstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000459994|protein_coding_CDS_not_defined||||||||||rs6603781&COSV55420653|4021|-1||SNV|HGNC|HGNC:24188||||5||||||||||||||0.9533|0.9985|0.9294|1|0.8608|0.956|0.9144|0.9834|0.9508|0.8568|0.9998|0.8519|0.8879|0.9053|0.9485|0.9188|0.9801|0.8333|0.9182|0.856|0.9998|0.8502|0.8829|0.8887|0.903|0.9535|1|EAS||0&1|0&1||||||||||,G|synonymous_variant&NMD_transcript_variant|LOW|SDF4|ENSG00000078808|Transcript|ENST00000465727|nonsense_mediated_decay|4/7||ENST00000465727.5:c.570T>C|ENSP00000435962.1:p.Asp190%3D|863|570|190|D|gaT/gaC|rs6603781&COSV55420653||-1||SNV|HGNC|HGNC:24188||||2|||ENSP00000435962||G3V1E2.100|UPI000045610D||||||||0.9533|0.9985|0.9294|1|0.8608|0.956|0.9144|0.9834|0.9508|0.8568|0.9998|0.8519|0.8879|0.9053|0.9485|0.9188|0.9801|0.8333|0.9182|0.856|0.9998|0.8502|0.8829|0.8887|0.903|0.9535|1|EAS||0&1|0&1||||||||MVWPWVAMASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEESCAPLSTGSPGEPEGPLVPGGQPPCRPAADGGGVPVVPPPRAQPGNAQVHGEGDRPGPGPGR||,G|upstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000478938|retained_intron||||||||||rs6603781&COSV55420653|2958|-1||SNV|HGNC|HGNC:24188||||2||||||||||||||0.9533|0.9985|0.9294|1|0.8608|0.956|0.9144|0.9834|0.9508|0.8568|0.9998|0.8519|0.8879|0.9053|0.9485|0.9188|0.9801|0.8333|0.9182|0.856|0.9998|0.8502|0.8829|0.8887|0.903|0.9535|1|EAS||0&1|0&1||||||||||,G|upstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000494748|retained_intron||||||||||rs6603781&COSV55420653|1900|-1||SNV|HGNC|HGNC:24188||||2||||||||||||||0.9533|0.9985|0.9294|1|0.8608|0.956|0.9144|0.9834|0.9508|0.8568|0.9998|0.8519|0.8879|0.9053|0.9485|0.9188|0.9801|0.8333|0.9182|0.856|0.9998|0.8502|0.8829|0.8887|0.903|0.9535|1|EAS||0&1|0&1|||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,16:0.928:16:0,4:0,6:0,10:0,0,6,10 -chr1 1223932 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=14%2C9|1%2C1;DP=25;ECNT=1;GERMQ=78;MBQ=33,31;MFRL=0,0;MMQ=60,60;MPOS=48;POPAF=7.3;TLOD=4.67;SRC=custom;GRP=custom;CSQ=T|synonymous_variant|LOW|SDF4|ENSG00000078808|Transcript|ENST00000263741|protein_coding|3/7||ENST00000263741.12:c.342G>A|ENSP00000263741.8:p.Lys114%3D|656|342|114|K|aaG/aaA|||-1||SNV|HGNC|HGNC:24188||||1||CCDS12.2|ENSP00000263741||A0A5F9UJX7.15|UPI00114AF40C||||||||||||||||||||||||||||||||||||||||||||||MASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEETQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDRKKEFEELIDSNHDGIVTAEELENVPTLPLQPIGTLNSHFVRLAAELGGGKATLTCAPLARRATWTP||,T|synonymous_variant|LOW|SDF4|ENSG00000078808|Transcript|ENST00000360001|protein_coding|3/7||ENST00000360001.12:c.342G>A|ENSP00000353094.7:p.Lys114%3D|626|342|114|K|aaG/aaA|||-1||SNV|HGNC|HGNC:24188|YES|NM_016176.6||1|P1|CCDS30553.2|ENSP00000353094||A0A5F9UP49.15|UPI0000205990||||||||||||||||||||||||||||||||||||||||||||||MASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEETQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDRKKEFEELIDSNHDGIVTAEELESYMDPMNEYNALNEAKQMIAVADENQNHHLEPEEVLKYSEFFTGSKLVDYARSVHEEF||,T|synonymous_variant|LOW|SDF4|ENSG00000078808|Transcript|ENST00000403997|protein_coding|2/5||ENST00000403997.2:c.168G>A|ENSP00000384207.2:p.Lys56%3D|166|168|56|K|aaG/aaA|||-1|cds_start_NF&cds_end_NF|SNV|HGNC|HGNC:24188||||3|||ENSP00000384207||H0Y3T6.65|UPI000059CF48||||||||||||||||||||||||||||||||||||||||||||||XLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEESSTSRNFLDLRAGVCRPRYPQAAPLSAQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDR||,T|downstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000459994|protein_coding_CDS_not_defined|||||||||||3340|-1||SNV|HGNC|HGNC:24188||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|synonymous_variant&NMD_transcript_variant|LOW|SDF4|ENSG00000078808|Transcript|ENST00000465727|nonsense_mediated_decay|3/7||ENST00000465727.5:c.363G>A|ENSP00000435962.1:p.Lys121%3D|656|363|121|K|aaG/aaA|||-1||SNV|HGNC|HGNC:24188||||2|||ENSP00000435962||G3V1E2.100|UPI000045610D||||||||||||||||||||||||||||||||||||||||||||||MVWPWVAMASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEESCAPLSTGSPGEPEGPLVPGGQPPCRPAADGGGVPVVPPPRAQPGNAQVHGEGDRPGPGPGR||,T|upstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000478938|retained_intron|||||||||||3639|-1||SNV|HGNC|HGNC:24188||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000494748|retained_intron|||||||||||2581|-1||SNV|HGNC|HGNC:24188||||2|||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:23,2:0.105:25:2,0:14,1:16,1:14,9,1,1 -chr1 1224137 . T C . position AS_FilterStatus=position;AS_SB_TABLE=0%2C0|2%2C1;DP=3;ECNT=1;GERMQ=49;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=0;POPAF=7.3;TLOD=10.5;SRC=custom;GRP=custom;CSQ=C|intron_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000263741|protein_coding||2/6|ENST00000263741.12:c.306-169A>G|||||||rs6702268||-1||SNV|HGNC|HGNC:24188||||1||CCDS12.2|ENSP00000263741||A0A5F9UJX7.15|UPI00114AF40C||||||||0.9740|1|0.9539|1|0.9185|0.9836||||||||||0.9528|0.987|0.8542|0.9465|0.8857|1|0.966|0.9209|0.9308|0.9368|0.9847|1|AFR&EAS&gnomADg_EAS|||||||||||MASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEETQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDRKKEFEELIDSNHDGIVTAEELENVPTLPLQPIGTLNSHFVRLAAELGGGKATLTCAPLARRATWTP||,C|intron_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000360001|protein_coding||2/6|ENST00000360001.12:c.306-169A>G|||||||rs6702268||-1||SNV|HGNC|HGNC:24188|YES|NM_016176.6||1|P1|CCDS30553.2|ENSP00000353094||A0A5F9UP49.15|UPI0000205990||||||||0.9740|1|0.9539|1|0.9185|0.9836||||||||||0.9528|0.987|0.8542|0.9465|0.8857|1|0.966|0.9209|0.9308|0.9368|0.9847|1|AFR&EAS&gnomADg_EAS|||||||||||MASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEETQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDRKKEFEELIDSNHDGIVTAEELESYMDPMNEYNALNEAKQMIAVADENQNHHLEPEEVLKYSEFFTGSKLVDYARSVHEEF||,C|intron_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000403997|protein_coding||1/4|ENST00000403997.2:c.130-169A>G|||||||rs6702268||-1|cds_start_NF&cds_end_NF|SNV|HGNC|HGNC:24188||||3|||ENSP00000384207||H0Y3T6.65|UPI000059CF48||||||||0.9740|1|0.9539|1|0.9185|0.9836||||||||||0.9528|0.987|0.8542|0.9465|0.8857|1|0.966|0.9209|0.9308|0.9368|0.9847|1|AFR&EAS&gnomADg_EAS|||||||||||XLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEESSTSRNFLDLRAGVCRPRYPQAAPLSAQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDR||,C|downstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000459994|protein_coding_CDS_not_defined||||||||||rs6702268|3135|-1||SNV|HGNC|HGNC:24188||||5||||||||||||||0.9740|1|0.9539|1|0.9185|0.9836||||||||||0.9528|0.987|0.8542|0.9465|0.8857|1|0.966|0.9209|0.9308|0.9368|0.9847|1|AFR&EAS&gnomADg_EAS|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000465727|nonsense_mediated_decay||2/6|ENST00000465727.5:c.327-169A>G|||||||rs6702268||-1||SNV|HGNC|HGNC:24188||||2|||ENSP00000435962||G3V1E2.100|UPI000045610D||||||||0.9740|1|0.9539|1|0.9185|0.9836||||||||||0.9528|0.987|0.8542|0.9465|0.8857|1|0.966|0.9209|0.9308|0.9368|0.9847|1|AFR&EAS&gnomADg_EAS|||||||||||MVWPWVAMASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEESCAPLSTGSPGEPEGPLVPGGQPPCRPAADGGGVPVVPPPRAQPGNAQVHGEGDRPGPGPGR||,C|upstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000478938|retained_intron||||||||||rs6702268|3844|-1||SNV|HGNC|HGNC:24188||||2||||||||||||||0.9740|1|0.9539|1|0.9185|0.9836||||||||||0.9528|0.987|0.8542|0.9465|0.8857|1|0.966|0.9209|0.9308|0.9368|0.9847|1|AFR&EAS&gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000494748|retained_intron||||||||||rs6702268|2786|-1||SNV|HGNC|HGNC:24188||||2||||||||||||||0.9740|1|0.9539|1|0.9185|0.9836||||||||||0.9528|0.987|0.8542|0.9465|0.8857|1|0.966|0.9209|0.9308|0.9368|0.9847|1|AFR&EAS&gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,0:0,2:0,2:0,0,2,1 -chr1 1224318 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,30;MFRL=0,0;MMQ=60,60;MPOS=150;POPAF=7.3;TLOD=3.18;SRC=custom;GRP=custom;CSQ=T|intron_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000263741|protein_coding||2/6|ENST00000263741.12:c.306-350G>A|||||||||-1||SNV|HGNC|HGNC:24188||||1||CCDS12.2|ENSP00000263741||A0A5F9UJX7.15|UPI00114AF40C||||||||||||||||||||||||||||||||||||||||||||||MASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEETQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDRKKEFEELIDSNHDGIVTAEELENVPTLPLQPIGTLNSHFVRLAAELGGGKATLTCAPLARRATWTP||,T|intron_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000360001|protein_coding||2/6|ENST00000360001.12:c.306-350G>A|||||||||-1||SNV|HGNC|HGNC:24188|YES|NM_016176.6||1|P1|CCDS30553.2|ENSP00000353094||A0A5F9UP49.15|UPI0000205990||||||||||||||||||||||||||||||||||||||||||||||MASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEETQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDRKKEFEELIDSNHDGIVTAEELESYMDPMNEYNALNEAKQMIAVADENQNHHLEPEEVLKYSEFFTGSKLVDYARSVHEEF||,T|intron_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000403997|protein_coding||1/4|ENST00000403997.2:c.130-350G>A|||||||||-1|cds_start_NF&cds_end_NF|SNV|HGNC|HGNC:24188||||3|||ENSP00000384207||H0Y3T6.65|UPI000059CF48||||||||||||||||||||||||||||||||||||||||||||||XLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEESSTSRNFLDLRAGVCRPRYPQAAPLSAQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDR||,T|downstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000459994|protein_coding_CDS_not_defined|||||||||||2954|-1||SNV|HGNC|HGNC:24188||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000465727|nonsense_mediated_decay||2/6|ENST00000465727.5:c.327-350G>A|||||||||-1||SNV|HGNC|HGNC:24188||||2|||ENSP00000435962||G3V1E2.100|UPI000045610D||||||||||||||||||||||||||||||||||||||||||||||MVWPWVAMASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEESCAPLSTGSPGEPEGPLVPGGQPPCRPAADGGGVPVVPPPRAQPGNAQVHGEGDRPGPGPGR||,T|upstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000478938|retained_intron|||||||||||4025|-1||SNV|HGNC|HGNC:24188||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000494748|retained_intron|||||||||||2967|-1||SNV|HGNC|HGNC:24188||||2|||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 1224418 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=50;POPAF=7.3;TLOD=3.48;SRC=custom;GRP=custom;CSQ=C|intron_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000263741|protein_coding||2/6|ENST00000263741.12:c.306-450A>G|||||||rs1371307050||-1||SNV|HGNC|HGNC:24188||||1||CCDS12.2|ENSP00000263741||A0A5F9UJX7.15|UPI00114AF40C|||||||||||||||||||||||1.314e-05|0|0|0|0|0|0|0|2.939e-05|0|0|2.939e-05|gnomADg_NFE|||||||||||MASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEETQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDRKKEFEELIDSNHDGIVTAEELENVPTLPLQPIGTLNSHFVRLAAELGGGKATLTCAPLARRATWTP||,C|intron_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000360001|protein_coding||2/6|ENST00000360001.12:c.306-450A>G|||||||rs1371307050||-1||SNV|HGNC|HGNC:24188|YES|NM_016176.6||1|P1|CCDS30553.2|ENSP00000353094||A0A5F9UP49.15|UPI0000205990|||||||||||||||||||||||1.314e-05|0|0|0|0|0|0|0|2.939e-05|0|0|2.939e-05|gnomADg_NFE|||||||||||MASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEETQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDRKKEFEELIDSNHDGIVTAEELESYMDPMNEYNALNEAKQMIAVADENQNHHLEPEEVLKYSEFFTGSKLVDYARSVHEEF||,C|intron_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000403997|protein_coding||1/4|ENST00000403997.2:c.130-450A>G|||||||rs1371307050||-1|cds_start_NF&cds_end_NF|SNV|HGNC|HGNC:24188||||3|||ENSP00000384207||H0Y3T6.65|UPI000059CF48|||||||||||||||||||||||1.314e-05|0|0|0|0|0|0|0|2.939e-05|0|0|2.939e-05|gnomADg_NFE|||||||||||XLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEESSTSRNFLDLRAGVCRPRYPQAAPLSAQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDR||,C|downstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000459994|protein_coding_CDS_not_defined||||||||||rs1371307050|2854|-1||SNV|HGNC|HGNC:24188||||5|||||||||||||||||||||||||||||1.314e-05|0|0|0|0|0|0|0|2.939e-05|0|0|2.939e-05|gnomADg_NFE|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000465727|nonsense_mediated_decay||2/6|ENST00000465727.5:c.327-450A>G|||||||rs1371307050||-1||SNV|HGNC|HGNC:24188||||2|||ENSP00000435962||G3V1E2.100|UPI000045610D|||||||||||||||||||||||1.314e-05|0|0|0|0|0|0|0|2.939e-05|0|0|2.939e-05|gnomADg_NFE|||||||||||MVWPWVAMASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEESCAPLSTGSPGEPEGPLVPGGQPPCRPAADGGGVPVVPPPRAQPGNAQVHGEGDRPGPGPGR||,C|upstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000478938|retained_intron||||||||||rs1371307050|4125|-1||SNV|HGNC|HGNC:24188||||2|||||||||||||||||||||||||||||1.314e-05|0|0|0|0|0|0|0|2.939e-05|0|0|2.939e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000494748|retained_intron||||||||||rs1371307050|3067|-1||SNV|HGNC|HGNC:24188||||2|||||||||||||||||||||||||||||1.314e-05|0|0|0|0|0|0|0|2.939e-05|0|0|2.939e-05|gnomADg_NFE||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 1225963 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=11;POPAF=7.3;TLOD=3.58;SRC=custom;GRP=custom;CSQ=G|intron_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000263741|protein_coding||2/6|ENST00000263741.12:c.306-1995T>C|||||||||-1||SNV|HGNC|HGNC:24188||||1||CCDS12.2|ENSP00000263741||A0A5F9UJX7.15|UPI00114AF40C||||||||||||||||||||||||||||||||||||||||||||||MASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEETQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDRKKEFEELIDSNHDGIVTAEELENVPTLPLQPIGTLNSHFVRLAAELGGGKATLTCAPLARRATWTP||,G|intron_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000360001|protein_coding||2/6|ENST00000360001.12:c.306-1995T>C|||||||||-1||SNV|HGNC|HGNC:24188|YES|NM_016176.6||1|P1|CCDS30553.2|ENSP00000353094||A0A5F9UP49.15|UPI0000205990||||||||||||||||||||||||||||||||||||||||||||||MASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEETQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDRKKEFEELIDSNHDGIVTAEELESYMDPMNEYNALNEAKQMIAVADENQNHHLEPEEVLKYSEFFTGSKLVDYARSVHEEF||,G|intron_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000403997|protein_coding||1/4|ENST00000403997.2:c.130-1995T>C|||||||||-1|cds_start_NF&cds_end_NF|SNV|HGNC|HGNC:24188||||3|||ENSP00000384207||H0Y3T6.65|UPI000059CF48||||||||||||||||||||||||||||||||||||||||||||||XLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEESSTSRNFLDLRAGVCRPRYPQAAPLSAQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDR||,G|downstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000459994|protein_coding_CDS_not_defined|||||||||||1309|-1||SNV|HGNC|HGNC:24188||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000465727|nonsense_mediated_decay||2/6|ENST00000465727.5:c.327-1995T>C|||||||||-1||SNV|HGNC|HGNC:24188||||2|||ENSP00000435962||G3V1E2.100|UPI000045610D||||||||||||||||||||||||||||||||||||||||||||||MVWPWVAMASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEESCAPLSTGSPGEPEGPLVPGGQPPCRPAADGGGVPVVPPPRAQPGNAQVHGEGDRPGPGPGR||,G|upstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000494748|retained_intron|||||||||||4612|-1||SNV|HGNC|HGNC:24188||||2|||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 1226907 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C1;DP=4;ECNT=2;GERMQ=37;MBQ=32,31;MFRL=0,0;MMQ=60,60;MPOS=61;POPAF=7.3;TLOD=6.38;SRC=custom;GRP=custom;CSQ=C|intron_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000263741|protein_coding||2/6|ENST00000263741.12:c.305+1561A>G|||||||||-1||SNV|HGNC|HGNC:24188||||1||CCDS12.2|ENSP00000263741||A0A5F9UJX7.15|UPI00114AF40C||||||||||||||||||||||||||||||||||||||||||||||MASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEETQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDRKKEFEELIDSNHDGIVTAEELENVPTLPLQPIGTLNSHFVRLAAELGGGKATLTCAPLARRATWTP||,C|intron_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000360001|protein_coding||2/6|ENST00000360001.12:c.305+1561A>G|||||||||-1||SNV|HGNC|HGNC:24188|YES|NM_016176.6||1|P1|CCDS30553.2|ENSP00000353094||A0A5F9UP49.15|UPI0000205990||||||||||||||||||||||||||||||||||||||||||||||MASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEETQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDRKKEFEELIDSNHDGIVTAEELESYMDPMNEYNALNEAKQMIAVADENQNHHLEPEEVLKYSEFFTGSKLVDYARSVHEEF||,C|intron_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000403997|protein_coding||1/4|ENST00000403997.2:c.129+1561A>G|||||||||-1|cds_start_NF&cds_end_NF|SNV|HGNC|HGNC:24188||||3|||ENSP00000384207||H0Y3T6.65|UPI000059CF48||||||||||||||||||||||||||||||||||||||||||||||XLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEESSTSRNFLDLRAGVCRPRYPQAAPLSAQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDR||,C|downstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000459994|protein_coding_CDS_not_defined|||||||||||365|-1||SNV|HGNC|HGNC:24188||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000465727|nonsense_mediated_decay||2/6|ENST00000465727.5:c.326+1561A>G|||||||||-1||SNV|HGNC|HGNC:24188||||2|||ENSP00000435962||G3V1E2.100|UPI000045610D||||||||||||||||||||||||||||||||||||||||||||||MVWPWVAMASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEESCAPLSTGSPGEPEGPLVPGGQPPCRPAADGGGVPVVPPPRAQPGNAQVHGEGDRPGPGPGR|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.5:4:0,0:1,1:1,1:1,1,1,1 -chr1 1226946 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=1;GERMQ=52;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=46;POPAF=7.3;TLOD=14.43;SRC=custom;GRP=custom;CSQ=G|intron_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000263741|protein_coding||2/6|ENST00000263741.12:c.305+1522T>C|||||||rs4970423||-1||SNV|HGNC|HGNC:24188||||1||CCDS12.2|ENSP00000263741||A0A5F9UJX7.15|UPI00114AF40C||||||||0.9970|1|0.9928|1|0.9901|1||||||||||0.995|0.9984|1|0.9912|0.9842|0.9998|0.998|1|0.9931|0.9904|1|1|AFR&EAS&SAS&gnomADg_AMI&gnomADg_MID&gnomADg_SAS|||||||||||MASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEETQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDRKKEFEELIDSNHDGIVTAEELENVPTLPLQPIGTLNSHFVRLAAELGGGKATLTCAPLARRATWTP||,G|intron_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000360001|protein_coding||2/6|ENST00000360001.12:c.305+1522T>C|||||||rs4970423||-1||SNV|HGNC|HGNC:24188|YES|NM_016176.6||1|P1|CCDS30553.2|ENSP00000353094||A0A5F9UP49.15|UPI0000205990||||||||0.9970|1|0.9928|1|0.9901|1||||||||||0.995|0.9984|1|0.9912|0.9842|0.9998|0.998|1|0.9931|0.9904|1|1|AFR&EAS&SAS&gnomADg_AMI&gnomADg_MID&gnomADg_SAS|||||||||||MASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEETQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDRKKEFEELIDSNHDGIVTAEELESYMDPMNEYNALNEAKQMIAVADENQNHHLEPEEVLKYSEFFTGSKLVDYARSVHEEF||,G|intron_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000403997|protein_coding||1/4|ENST00000403997.2:c.129+1522T>C|||||||rs4970423||-1|cds_start_NF&cds_end_NF|SNV|HGNC|HGNC:24188||||3|||ENSP00000384207||H0Y3T6.65|UPI000059CF48||||||||0.9970|1|0.9928|1|0.9901|1||||||||||0.995|0.9984|1|0.9912|0.9842|0.9998|0.998|1|0.9931|0.9904|1|1|AFR&EAS&SAS&gnomADg_AMI&gnomADg_MID&gnomADg_SAS|||||||||||XLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEESSTSRNFLDLRAGVCRPRYPQAAPLSAQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDR||,G|downstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000459994|protein_coding_CDS_not_defined||||||||||rs4970423|326|-1||SNV|HGNC|HGNC:24188||||5||||||||||||||0.9970|1|0.9928|1|0.9901|1||||||||||0.995|0.9984|1|0.9912|0.9842|0.9998|0.998|1|0.9931|0.9904|1|1|AFR&EAS&SAS&gnomADg_AMI&gnomADg_MID&gnomADg_SAS|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000465727|nonsense_mediated_decay||2/6|ENST00000465727.5:c.326+1522T>C|||||||rs4970423||-1||SNV|HGNC|HGNC:24188||||2|||ENSP00000435962||G3V1E2.100|UPI000045610D||||||||0.9970|1|0.9928|1|0.9901|1||||||||||0.995|0.9984|1|0.9912|0.9842|0.9998|0.998|1|0.9931|0.9904|1|1|AFR&EAS&SAS&gnomADg_AMI&gnomADg_MID&gnomADg_SAS|||||||||||MVWPWVAMASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEESCAPLSTGSPGEPEGPLVPGGQPPCRPAADGGGVPVVPPPRAQPGNAQVHGEGDRPGPGPGR|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 1226946 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=2;GERMQ=47;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=22;POPAF=7.3;TLOD=7.25;SRC=custom;GRP=custom;CSQ=G|intron_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000263741|protein_coding||2/6|ENST00000263741.12:c.305+1522T>C|||||||rs4970423||-1||SNV|HGNC|HGNC:24188||||1||CCDS12.2|ENSP00000263741||A0A5F9UJX7.15|UPI00114AF40C||||||||0.9970|1|0.9928|1|0.9901|1||||||||||0.995|0.9984|1|0.9912|0.9842|0.9998|0.998|1|0.9931|0.9904|1|1|AFR&EAS&SAS&gnomADg_AMI&gnomADg_MID&gnomADg_SAS|||||||||||MASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEETQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDRKKEFEELIDSNHDGIVTAEELENVPTLPLQPIGTLNSHFVRLAAELGGGKATLTCAPLARRATWTP||,G|intron_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000360001|protein_coding||2/6|ENST00000360001.12:c.305+1522T>C|||||||rs4970423||-1||SNV|HGNC|HGNC:24188|YES|NM_016176.6||1|P1|CCDS30553.2|ENSP00000353094||A0A5F9UP49.15|UPI0000205990||||||||0.9970|1|0.9928|1|0.9901|1||||||||||0.995|0.9984|1|0.9912|0.9842|0.9998|0.998|1|0.9931|0.9904|1|1|AFR&EAS&SAS&gnomADg_AMI&gnomADg_MID&gnomADg_SAS|||||||||||MASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEETQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDRKKEFEELIDSNHDGIVTAEELESYMDPMNEYNALNEAKQMIAVADENQNHHLEPEEVLKYSEFFTGSKLVDYARSVHEEF||,G|intron_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000403997|protein_coding||1/4|ENST00000403997.2:c.129+1522T>C|||||||rs4970423||-1|cds_start_NF&cds_end_NF|SNV|HGNC|HGNC:24188||||3|||ENSP00000384207||H0Y3T6.65|UPI000059CF48||||||||0.9970|1|0.9928|1|0.9901|1||||||||||0.995|0.9984|1|0.9912|0.9842|0.9998|0.998|1|0.9931|0.9904|1|1|AFR&EAS&SAS&gnomADg_AMI&gnomADg_MID&gnomADg_SAS|||||||||||XLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEESSTSRNFLDLRAGVCRPRYPQAAPLSAQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDR||,G|downstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000459994|protein_coding_CDS_not_defined||||||||||rs4970423|326|-1||SNV|HGNC|HGNC:24188||||5||||||||||||||0.9970|1|0.9928|1|0.9901|1||||||||||0.995|0.9984|1|0.9912|0.9842|0.9998|0.998|1|0.9931|0.9904|1|1|AFR&EAS&SAS&gnomADg_AMI&gnomADg_MID&gnomADg_SAS|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000465727|nonsense_mediated_decay||2/6|ENST00000465727.5:c.326+1522T>C|||||||rs4970423||-1||SNV|HGNC|HGNC:24188||||2|||ENSP00000435962||G3V1E2.100|UPI000045610D||||||||0.9970|1|0.9928|1|0.9901|1||||||||||0.995|0.9984|1|0.9912|0.9842|0.9998|0.998|1|0.9931|0.9904|1|1|AFR&EAS&SAS&gnomADg_AMI&gnomADg_MID&gnomADg_SAS|||||||||||MVWPWVAMASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEESCAPLSTGSPGEPEGPLVPGGQPPCRPAADGGGVPVVPPPRAQPGNAQVHGEGDRPGPGPGR|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1227938 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C1|1%2C1;DP=3;ECNT=1;GERMQ=38;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=71;POPAF=7.3;TLOD=6.58;SRC=custom;GRP=custom;CSQ=G|intron_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000263741|protein_coding||2/6|ENST00000263741.12:c.305+530T>C|||||||||-1||SNV|HGNC|HGNC:24188||||1||CCDS12.2|ENSP00000263741||A0A5F9UJX7.15|UPI00114AF40C||||||||||||||||||||||||||||||||||||||||||||||MASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEETQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDRKKEFEELIDSNHDGIVTAEELENVPTLPLQPIGTLNSHFVRLAAELGGGKATLTCAPLARRATWTP||,G|intron_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000360001|protein_coding||2/6|ENST00000360001.12:c.305+530T>C|||||||||-1||SNV|HGNC|HGNC:24188|YES|NM_016176.6||1|P1|CCDS30553.2|ENSP00000353094||A0A5F9UP49.15|UPI0000205990||||||||||||||||||||||||||||||||||||||||||||||MASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEETQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDRKKEFEELIDSNHDGIVTAEELESYMDPMNEYNALNEAKQMIAVADENQNHHLEPEEVLKYSEFFTGSKLVDYARSVHEEF||,G|upstream_gene_variant|MODIFIER|B3GALT6|ENSG00000176022|Transcript|ENST00000379198|protein_coding|||||||||||4299|1||SNV|HGNC|HGNC:17978|YES|NM_080605.4|||P1|CCDS13.1|ENSP00000368496|Q96L58.168||UPI0000141885||1||||||||||||||||||||||||||||||||||||||||||||MKLLRRAWRRRAALGLGTLALCGAALLYLARCAAEPGDPRAMSGRSPPPPAPARAAAFLAVLVASAPRAAERRSVIRSTWLARRGAPGDVWARFAVGTAGLGAEERRALEREQARHGDLLLLPALRDAYENLTAKVLAMLAWLDEHVAFEFVLKADDDSFARLDALLAELRAREPARRRRLYWGFFSGRGRVKPGGRWREAAWQLCDYYLPYALGGGYVLSADLVHYLRLSRDYLRAWHSEDVSLGAWLAPVDVQREHDPRFDTEYRSRGCSNQYLVTHKQSLEDMLEKHATLAREGRLCKREVQLRLSYVYDWSAPPSQCCQRREGIP||,G|intron_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000403997|protein_coding||1/4|ENST00000403997.2:c.129+530T>C|||||||||-1|cds_start_NF&cds_end_NF|SNV|HGNC|HGNC:24188||||3|||ENSP00000384207||H0Y3T6.65|UPI000059CF48||||||||||||||||||||||||||||||||||||||||||||||XLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEESSTSRNFLDLRAGVCRPRYPQAAPLSAQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDR||,G|intron_variant&non_coding_transcript_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000459994|protein_coding_CDS_not_defined||2/2|ENST00000459994.2:n.556+530T>C|||||||||-1||SNV|HGNC|HGNC:24188||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000465727|nonsense_mediated_decay||2/6|ENST00000465727.5:c.326+530T>C|||||||||-1||SNV|HGNC|HGNC:24188||||2|||ENSP00000435962||G3V1E2.100|UPI000045610D||||||||||||||||||||||||||||||||||||||||||||||MVWPWVAMASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEESCAPLSTGSPGEPEGPLVPGGQPPCRPAADGGGVPVVPPPRAQPGNAQVHGEGDRPGPGPGR||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918422|enhancer||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,2:0.5:3:1,0:0,1:1,1:0,1,1,1 -chr1 1232278 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=6%2C6|1%2C1;DP=14;ECNT=1;GERMQ=53;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=6;POPAF=7.3;TLOD=5.51;SRC=custom;GRP=custom;CSQ=T|upstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000263741|protein_coding||||||||||rs989834881|247|-1||SNV|HGNC|HGNC:24188||||1||CCDS12.2|ENSP00000263741||A0A5F9UJX7.15|UPI00114AF40C|||||||||||||||||||||||2.068e-05|7.533e-05|0|0|0|0|0|0|0|0|0|7.533e-05|gnomADg_AFR|||||||||||MASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEETQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDRKKEFEELIDSNHDGIVTAEELENVPTLPLQPIGTLNSHFVRLAAELGGGKATLTCAPLARRATWTP||,T|upstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000360001|protein_coding||||||||||rs989834881|277|-1||SNV|HGNC|HGNC:24188|YES|NM_016176.6||1|P1|CCDS30553.2|ENSP00000353094||A0A5F9UP49.15|UPI0000205990|||||||||||||||||||||||2.068e-05|7.533e-05|0|0|0|0|0|0|0|0|0|7.533e-05|gnomADg_AFR|||||||||||MASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEETQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDRKKEFEELIDSNHDGIVTAEELESYMDPMNEYNALNEAKQMIAVADENQNHHLEPEEVLKYSEFFTGSKLVDYARSVHEEF||,T|5_prime_UTR_variant|MODIFIER|B3GALT6|ENSG00000176022|Transcript|ENST00000379198|protein_coding|1/1||ENST00000379198.5:c.-1C>T||42|||||rs989834881||1||SNV|HGNC|HGNC:17978|YES|NM_080605.4|||P1|CCDS13.1|ENSP00000368496|Q96L58.168||UPI0000141885||1|||||||||||||||||||||2.068e-05|7.533e-05|0|0|0|0|0|0|0|0|0|7.533e-05|gnomADg_AFR|||||||||||MKLLRRAWRRRAALGLGTLALCGAALLYLARCAAEPGDPRAMSGRSPPPPAPARAAAFLAVLVASAPRAAERRSVIRSTWLARRGAPGDVWARFAVGTAGLGAEERRALEREQARHGDLLLLPALRDAYENLTAKVLAMLAWLDEHVAFEFVLKADDDSFARLDALLAELRAREPARRRRLYWGFFSGRGRVKPGGRWREAAWQLCDYYLPYALGGGYVLSADLVHYLRLSRDYLRAWHSEDVSLGAWLAPVDVQREHDPRFDTEYRSRGCSNQYLVTHKQSLEDMLEKHATLAREGRLCKREVQLRLSYVYDWSAPPSQCCQRREGIP||,T|upstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000403997|protein_coding||||||||||rs989834881|3682|-1|cds_start_NF&cds_end_NF|SNV|HGNC|HGNC:24188||||3|||ENSP00000384207||H0Y3T6.65|UPI000059CF48|||||||||||||||||||||||2.068e-05|7.533e-05|0|0|0|0|0|0|0|0|0|7.533e-05|gnomADg_AFR|||||||||||XLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEESSTSRNFLDLRAGVCRPRYPQAAPLSAQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDR||,T|upstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000459994|protein_coding_CDS_not_defined||||||||||rs989834881|310|-1||SNV|HGNC|HGNC:24188||||5|||||||||||||||||||||||||||||2.068e-05|7.533e-05|0|0|0|0|0|0|0|0|0|7.533e-05|gnomADg_AFR|||||||||||||,T|upstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000465727|nonsense_mediated_decay||||||||||rs989834881|247|-1||SNV|HGNC|HGNC:24188||||2|||ENSP00000435962||G3V1E2.100|UPI000045610D|||||||||||||||||||||||2.068e-05|7.533e-05|0|0|0|0|0|0|0|0|0|7.533e-05|gnomADg_AFR|||||||||||MVWPWVAMASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEESCAPLSTGSPGEPEGPLVPGGQPPCRPAADGGGVPVVPPPRAQPGNAQVHGEGDRPGPGPGR||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000159|promoter||||||||||rs989834881||||SNV|||||||||||||||||||||||||||||||||||2.068e-05|7.533e-05|0|0|0|0|0|0|0|0|0|7.533e-05|gnomADg_AFR|||||||||||||,T|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00110387954|||||||||||rs989834881||1||SNV|||||||||||||||||||||||||||||||||||2.068e-05|7.533e-05|0|0|0|0|0|0|0|0|0|7.533e-05|gnomADg_AFR|||||ENSPFM0073|12|N|-0.006|E2F1::NHLH1|||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:12,2:0.222:14:0,0:6,1:6,1:6,6,1,1 -chr1 1232436 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=14%2C13|1%2C1;DP=29;ECNT=1;GERMQ=88;MBQ=32,31;MFRL=0,0;MMQ=60,60;MPOS=125;POPAF=7.3;TLOD=4.66;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000263741|protein_coding|||||||||||405|-1||SNV|HGNC|HGNC:24188||||1||CCDS12.2|ENSP00000263741||A0A5F9UJX7.15|UPI00114AF40C||||||||||||||||||||||||||||||||||||||||||||||MASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEETQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDRKKEFEELIDSNHDGIVTAEELENVPTLPLQPIGTLNSHFVRLAAELGGGKATLTCAPLARRATWTP||,G|upstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000360001|protein_coding|||||||||||435|-1||SNV|HGNC|HGNC:24188|YES|NM_016176.6||1|P1|CCDS30553.2|ENSP00000353094||A0A5F9UP49.15|UPI0000205990||||||||||||||||||||||||||||||||||||||||||||||MASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEETQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDRKKEFEELIDSNHDGIVTAEELESYMDPMNEYNALNEAKQMIAVADENQNHHLEPEEVLKYSEFFTGSKLVDYARSVHEEF||,G|missense_variant|MODERATE|B3GALT6|ENSG00000176022|Transcript|ENST00000379198|protein_coding|1/1||ENST00000379198.5:c.158C>G|ENSP00000368496.2:p.Ala53Gly|200|158|53|A/G|gCg/gGg|||1||SNV|HGNC|HGNC:17978|YES|NM_080605.4|||P1|CCDS13.1|ENSP00000368496|Q96L58.168||UPI0000141885||1|tolerated(0.35)|benign(0.374)||||||||||||||||||||||||||||||||||||||||||MKLLRRAWRRRAALGLGTLALCGAALLYLARCAAEPGDPRAMSGRSPPPPAPARAAAFLAVLVASAPRAAERRSVIRSTWLARRGAPGDVWARFAVGTAGLGAEERRALEREQARHGDLLLLPALRDAYENLTAKVLAMLAWLDEHVAFEFVLKADDDSFARLDALLAELRAREPARRRRLYWGFFSGRGRVKPGGRWREAAWQLCDYYLPYALGGGYVLSADLVHYLRLSRDYLRAWHSEDVSLGAWLAPVDVQREHDPRFDTEYRSRGCSNQYLVTHKQSLEDMLEKHATLAREGRLCKREVQLRLSYVYDWSAPPSQCCQRREGIP||,G|upstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000403997|protein_coding|||||||||||3840|-1|cds_start_NF&cds_end_NF|SNV|HGNC|HGNC:24188||||3|||ENSP00000384207||H0Y3T6.65|UPI000059CF48||||||||||||||||||||||||||||||||||||||||||||||XLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEESSTSRNFLDLRAGVCRPRYPQAAPLSAQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDR||,G|upstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000459994|protein_coding_CDS_not_defined|||||||||||468|-1||SNV|HGNC|HGNC:24188||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000465727|nonsense_mediated_decay|||||||||||405|-1||SNV|HGNC|HGNC:24188||||2|||ENSP00000435962||G3V1E2.100|UPI000045610D||||||||||||||||||||||||||||||||||||||||||||||MVWPWVAMASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEESCAPLSTGSPGEPEGPLVPGGQPPCRPAADGGGVPVVPPPRAQPGNAQVHGEGDRPGPGPGR||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000159|promoter||||||||||||||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00110681242|||||||||||||-1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||ENSPFM0068|6|N|-0.007|E2F1::ELK1|||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:27,2:0.111:29:0,0:14,1:15,1:14,13,1,1 -chr1 1232533 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=24%2C22|1%2C1;DP=50;ECNT=1;GERMQ=93;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=16;POPAF=7.3;TLOD=4.73;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000263741|protein_coding||||||||||rs1372150716|502|-1||SNV|HGNC|HGNC:24188||||1||CCDS12.2|ENSP00000263741||A0A5F9UJX7.15|UPI00114AF40C|||||||||||||||||||||||6.755e-06|2.443e-05|0|0|0|0|0|0|0|0|0|2.443e-05|gnomADg_AFR|||1||||||||MASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEETQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDRKKEFEELIDSNHDGIVTAEELENVPTLPLQPIGTLNSHFVRLAAELGGGKATLTCAPLARRATWTP||,A|upstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000360001|protein_coding||||||||||rs1372150716|532|-1||SNV|HGNC|HGNC:24188|YES|NM_016176.6||1|P1|CCDS30553.2|ENSP00000353094||A0A5F9UP49.15|UPI0000205990|||||||||||||||||||||||6.755e-06|2.443e-05|0|0|0|0|0|0|0|0|0|2.443e-05|gnomADg_AFR|||1||||||||MASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEETQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDRKKEFEELIDSNHDGIVTAEELESYMDPMNEYNALNEAKQMIAVADENQNHHLEPEEVLKYSEFFTGSKLVDYARSVHEEF||,A|synonymous_variant|LOW|B3GALT6|ENSG00000176022|Transcript|ENST00000379198|protein_coding|1/1||ENST00000379198.5:c.255G>A|ENSP00000368496.2:p.Gly85%3D|297|255|85|G|ggG/ggA|rs1372150716||1||SNV|HGNC|HGNC:17978|YES|NM_080605.4|||P1|CCDS13.1|ENSP00000368496|Q96L58.168||UPI0000141885||1|||||||||||||||||||||6.755e-06|2.443e-05|0|0|0|0|0|0|0|0|0|2.443e-05|gnomADg_AFR|||1||||||||MKLLRRAWRRRAALGLGTLALCGAALLYLARCAAEPGDPRAMSGRSPPPPAPARAAAFLAVLVASAPRAAERRSVIRSTWLARRGAPGDVWARFAVGTAGLGAEERRALEREQARHGDLLLLPALRDAYENLTAKVLAMLAWLDEHVAFEFVLKADDDSFARLDALLAELRAREPARRRRLYWGFFSGRGRVKPGGRWREAAWQLCDYYLPYALGGGYVLSADLVHYLRLSRDYLRAWHSEDVSLGAWLAPVDVQREHDPRFDTEYRSRGCSNQYLVTHKQSLEDMLEKHATLAREGRLCKREVQLRLSYVYDWSAPPSQCCQRREGIP||,A|upstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000403997|protein_coding||||||||||rs1372150716|3937|-1|cds_start_NF&cds_end_NF|SNV|HGNC|HGNC:24188||||3|||ENSP00000384207||H0Y3T6.65|UPI000059CF48|||||||||||||||||||||||6.755e-06|2.443e-05|0|0|0|0|0|0|0|0|0|2.443e-05|gnomADg_AFR|||1||||||||XLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEESSTSRNFLDLRAGVCRPRYPQAAPLSAQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDR||,A|upstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000459994|protein_coding_CDS_not_defined||||||||||rs1372150716|565|-1||SNV|HGNC|HGNC:24188||||5|||||||||||||||||||||||||||||6.755e-06|2.443e-05|0|0|0|0|0|0|0|0|0|2.443e-05|gnomADg_AFR|||1||||||||||,A|upstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000465727|nonsense_mediated_decay||||||||||rs1372150716|502|-1||SNV|HGNC|HGNC:24188||||2|||ENSP00000435962||G3V1E2.100|UPI000045610D|||||||||||||||||||||||6.755e-06|2.443e-05|0|0|0|0|0|0|0|0|0|2.443e-05|gnomADg_AFR|||1||||||||MVWPWVAMASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEESCAPLSTGSPGEPEGPLVPGGQPPCRPAADGGGVPVVPPPRAQPGNAQVHGEGDRPGPGPGR||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000159|promoter||||||||||rs1372150716||||SNV|||||||||||||||||||||||||||||||||||6.755e-06|2.443e-05|0|0|0|0|0|0|0|0|0|2.443e-05|gnomADg_AFR|||1|||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:46,2:0.074:48:0,0:23,1:24,1:24,22,1,1 -chr1 1234657 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=104%2C106|2%2C2;DP=222;ECNT=1;GERMQ=93;MBQ=33,30;MFRL=0,0;MMQ=60,60;MPOS=134;POPAF=7.3;TLOD=7.74;SRC=custom;GRP=custom;CSQ=C|upstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000263741|protein_coding|||||||||||2626|-1||SNV|HGNC|HGNC:24188||||1||CCDS12.2|ENSP00000263741||A0A5F9UJX7.15|UPI00114AF40C||||||||||||||||||||||||||||||||||||||||||||||MASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEETQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDRKKEFEELIDSNHDGIVTAEELENVPTLPLQPIGTLNSHFVRLAAELGGGKATLTCAPLARRATWTP||,C|upstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000360001|protein_coding|||||||||||2656|-1||SNV|HGNC|HGNC:24188|YES|NM_016176.6||1|P1|CCDS30553.2|ENSP00000353094||A0A5F9UP49.15|UPI0000205990||||||||||||||||||||||||||||||||||||||||||||||MASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEETQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDRKKEFEELIDSNHDGIVTAEELESYMDPMNEYNALNEAKQMIAVADENQNHHLEPEEVLKYSEFFTGSKLVDYARSVHEEF||,C|3_prime_UTR_variant|MODIFIER|B3GALT6|ENSG00000176022|Transcript|ENST00000379198|protein_coding|1/1||ENST00000379198.5:c.*1389T>C||2421|||||||1||SNV|HGNC|HGNC:17978|YES|NM_080605.4|||P1|CCDS13.1|ENSP00000368496|Q96L58.168||UPI0000141885||1||||||||||||||||||||||||||||||||||||||||||||MKLLRRAWRRRAALGLGTLALCGAALLYLARCAAEPGDPRAMSGRSPPPPAPARAAAFLAVLVASAPRAAERRSVIRSTWLARRGAPGDVWARFAVGTAGLGAEERRALEREQARHGDLLLLPALRDAYENLTAKVLAMLAWLDEHVAFEFVLKADDDSFARLDALLAELRAREPARRRRLYWGFFSGRGRVKPGGRWREAAWQLCDYYLPYALGGGYVLSADLVHYLRLSRDYLRAWHSEDVSLGAWLAPVDVQREHDPRFDTEYRSRGCSNQYLVTHKQSLEDMLEKHATLAREGRLCKREVQLRLSYVYDWSAPPSQCCQRREGIP||,C|upstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000459994|protein_coding_CDS_not_defined|||||||||||2689|-1||SNV|HGNC|HGNC:24188||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000465727|nonsense_mediated_decay|||||||||||2626|-1||SNV|HGNC|HGNC:24188||||2|||ENSP00000435962||G3V1E2.100|UPI000045610D||||||||||||||||||||||||||||||||||||||||||||||MVWPWVAMASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEESCAPLSTGSPGEPEGPLVPGGQPPCRPAADGGGVPVVPPPRAQPGNAQVHGEGDRPGPGPGR|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:210,4:0.022:214:20,0:103,2:130,2:104,106,2,2 -chr1 1240436 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4%2C4|2%2C2;DP=12;ECNT=1;GERMQ=39;MBQ=31,33;MFRL=0,0;MMQ=60,60;MPOS=63;POPAF=7.3;TLOD=12.59;SRC=custom;GRP=custom;CSQ=T|downstream_gene_variant|MODIFIER|C1QTNF12|ENSG00000184163|Transcript|ENST00000330388|protein_coding|||||||||||2017|-1||SNV|HGNC|HGNC:32308|YES|NM_001014980.3||1|P1|CCDS30554.1|ENSP00000329137|Q5T7M4.114||UPI00001D7E7A||||||||||||||||||||||||||||||||||||||||||||||MRRWAWAAVVVLLGPQLVLLGGVGARREAQRTQQPGQRADPPNATASASSREGLPEAPKPSQASGPEFSDAHMTWLNFVRRPDDGALRKRCGSRDKKPRDLFGPPGPPGAEVTAETLLHEFQELLKEATERRFSGLLDPLLPQGAGLRLVGEAFHCRLQGPRRVDKRTLVELHGFQAPAAQGAFLRGSGLSLASGRFTAPVSGIFQFSASLHVDHSELQGKARLRARDVVCVLICIESLCQRHTCLEAVSGLESNSRVFTLQVQGLLQLQAGQYASVFVDNGSGAVLTIQAGSSFSGLLLGT||,T|downstream_gene_variant|MODIFIER|C1QTNF12|ENSG00000184163|Transcript|ENST00000462849|retained_intron|||||||||||2010|-1||SNV|HGNC|HGNC:32308||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|C1QTNF12|ENSG00000184163|Transcript|ENST00000468365|retained_intron|||||||||||2830|-1||SNV|HGNC|HGNC:32308||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|C1QTNF12|ENSG00000184163|Transcript|ENST00000478606|retained_intron|||||||||||2013|-1||SNV|HGNC|HGNC:32308||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|C1QTNF12|ENSG00000184163|Transcript|ENST00000486627|retained_intron|||||||||||3545|-1||SNV|HGNC|HGNC:32308||||3|||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:8,4:0.375:12:0,0:3,2:4,2:4,4,2,2 -chr1 1243675 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=75;POPAF=7.3;TLOD=7.25;SRC=custom;GRP=custom;CSQ=A|intron_variant|MODIFIER|C1QTNF12|ENSG00000184163|Transcript|ENST00000330388|protein_coding||4/7|ENST00000330388.2:c.532-123C>T|||||||rs1008127790||-1||SNV|HGNC|HGNC:32308|YES|NM_001014980.3||1|P1|CCDS30554.1|ENSP00000329137|Q5T7M4.114||UPI00001D7E7A|||||||||||||||||||||||6.579e-06|2.42e-05|0|0|0|0|0|0|0|0|0|2.42e-05|gnomADg_AFR|||||||||||MRRWAWAAVVVLLGPQLVLLGGVGARREAQRTQQPGQRADPPNATASASSREGLPEAPKPSQASGPEFSDAHMTWLNFVRRPDDGALRKRCGSRDKKPRDLFGPPGPPGAEVTAETLLHEFQELLKEATERRFSGLLDPLLPQGAGLRLVGEAFHCRLQGPRRVDKRTLVELHGFQAPAAQGAFLRGSGLSLASGRFTAPVSGIFQFSASLHVDHSELQGKARLRARDVVCVLICIESLCQRHTCLEAVSGLESNSRVFTLQVQGLLQLQAGQYASVFVDNGSGAVLTIQAGSSFSGLLLGT||,A|upstream_gene_variant|MODIFIER|C1QTNF12|ENSG00000184163|Transcript|ENST00000462849|retained_intron||||||||||rs1008127790|212|-1||SNV|HGNC|HGNC:32308||||2|||||||||||||||||||||||||||||6.579e-06|2.42e-05|0|0|0|0|0|0|0|0|0|2.42e-05|gnomADg_AFR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|C1QTNF12|ENSG00000184163|Transcript|ENST00000468365|retained_intron||2/2|ENST00000468365.1:n.361-123C>T|||||||rs1008127790||-1||SNV|HGNC|HGNC:32308||||3|||||||||||||||||||||||||||||6.579e-06|2.42e-05|0|0|0|0|0|0|0|0|0|2.42e-05|gnomADg_AFR|||||||||||||,A|upstream_gene_variant|MODIFIER|C1QTNF12|ENSG00000184163|Transcript|ENST00000478606|retained_intron||||||||||rs1008127790|517|-1||SNV|HGNC|HGNC:32308||||2|||||||||||||||||||||||||||||6.579e-06|2.42e-05|0|0|0|0|0|0|0|0|0|2.42e-05|gnomADg_AFR|||||||||||||,A|downstream_gene_variant|MODIFIER|C1QTNF12|ENSG00000184163|Transcript|ENST00000486627|retained_intron||||||||||rs1008127790|306|-1||SNV|HGNC|HGNC:32308||||3|||||||||||||||||||||||||||||6.579e-06|2.42e-05|0|0|0|0|0|0|0|0|0|2.42e-05|gnomADg_AFR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1249858 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=141;POPAF=7.3;TLOD=3.68;SRC=custom;GRP=custom;CSQ=C|upstream_gene_variant|MODIFIER|C1QTNF12|ENSG00000184163|Transcript|ENST00000330388|protein_coding|||||||||||3136|-1||SNV|HGNC|HGNC:32308|YES|NM_001014980.3||1|P1|CCDS30554.1|ENSP00000329137|Q5T7M4.114||UPI00001D7E7A||||||||||||||||||||||||||||||||||||||||||||||MRRWAWAAVVVLLGPQLVLLGGVGARREAQRTQQPGQRADPPNATASASSREGLPEAPKPSQASGPEFSDAHMTWLNFVRRPDDGALRKRCGSRDKKPRDLFGPPGPPGAEVTAETLLHEFQELLKEATERRFSGLLDPLLPQGAGLRLVGEAFHCRLQGPRRVDKRTLVELHGFQAPAAQGAFLRGSGLSLASGRFTAPVSGIFQFSASLHVDHSELQGKARLRARDVVCVLICIESLCQRHTCLEAVSGLESNSRVFTLQVQGLLQLQAGQYASVFVDNGSGAVLTIQAGSSFSGLLLGT||,C|downstream_gene_variant|MODIFIER|UBE2J2|ENSG00000160087|Transcript|ENST00000347370|protein_coding|||||||||||4056|-1||SNV|HGNC|HGNC:19268||||3||CCDS16.1|ENSP00000344857||A6NGS0.132|UPI00001D69FA||||||||||||||||||||||||||||||||||||||||||||||MTPYEGGYYHGKLIFPREFPFKPPSIYMITPNGRFKCNTRLCLSITDFHPDTWNPAWSVSTILTGLLSFMVEKGPTLGSIETSDFTKRQLAVQSLAFNLKDKVFCELFPEVVEEIKQKQKAQDELSSRPQTLPLPDVVPDGETHLVQNGIQLLNGHAPGAVPNLAGLQQANRHHGLLGGALANLFVIVGFAAFAYTVKYVLRSIAQE||,C|downstream_gene_variant|MODIFIER|UBE2J2|ENSG00000160087|Transcript|ENST00000349431|protein_coding|||||||||||4054|-1||SNV|HGNC|HGNC:19268|YES|NM_058167.3||1|P1|CCDS14.1|ENSP00000305826|Q8N2K1.173|A0A024R075.58|UPI0000149EE7|Q8N2K1-1|||||||||||||||||||||||||||||||||||||||||||||MSSTSSKRAPTTATQRLKQDYLRIKKDPVPYICAEPLPSNILEWHYVVRGPEMTPYEGGYYHGKLIFPREFPFKPPSIYMITPNGRFKCNTRLCLSITDFHPDTWNPAWSVSTILTGLLSFMVEKGPTLGSIETSDFTKRQLAVQSLAFNLKDKVFCELFPEVVEEIKQKQKAQDELSSRPQTLPLPDVVPDGETHLVQNGIQLLNGHAPGAVPNLAGLQQANRHHGLLGGALANLFVIVGFAAFAYTVKYVLRSIAQE||,C|downstream_gene_variant|MODIFIER|UBE2J2|ENSG00000160087|Transcript|ENST00000450390|nonsense_mediated_decay|||||||||||4051|-1||SNV|HGNC|HGNC:19268||||5|||ENSP00000407565||D6REN4.90|UPI0001D3BBF2||||||||||||||||||||||||||||||||||||||||||||||MSSTSSKRAPTTATQRLKQDYLRIKKDPVPYICAEPLPSNILE||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000260179|Transcript|ENST00000565563|lncRNA|1/1||ENST00000565563.1:n.1477A>G||1477|||||||-1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344552|CTCF_binding_site||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 1250019 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=16;POPAF=7.3;TLOD=3.58;SRC=custom;GRP=custom;CSQ=C|upstream_gene_variant|MODIFIER|C1QTNF12|ENSG00000184163|Transcript|ENST00000330388|protein_coding|||||||||||3297|-1||SNV|HGNC|HGNC:32308|YES|NM_001014980.3||1|P1|CCDS30554.1|ENSP00000329137|Q5T7M4.114||UPI00001D7E7A||||||||||||||||||||||||||||||||||||||||||||||MRRWAWAAVVVLLGPQLVLLGGVGARREAQRTQQPGQRADPPNATASASSREGLPEAPKPSQASGPEFSDAHMTWLNFVRRPDDGALRKRCGSRDKKPRDLFGPPGPPGAEVTAETLLHEFQELLKEATERRFSGLLDPLLPQGAGLRLVGEAFHCRLQGPRRVDKRTLVELHGFQAPAAQGAFLRGSGLSLASGRFTAPVSGIFQFSASLHVDHSELQGKARLRARDVVCVLICIESLCQRHTCLEAVSGLESNSRVFTLQVQGLLQLQAGQYASVFVDNGSGAVLTIQAGSSFSGLLLGT||,C|downstream_gene_variant|MODIFIER|UBE2J2|ENSG00000160087|Transcript|ENST00000347370|protein_coding|||||||||||3895|-1||SNV|HGNC|HGNC:19268||||3||CCDS16.1|ENSP00000344857||A6NGS0.132|UPI00001D69FA||||||||||||||||||||||||||||||||||||||||||||||MTPYEGGYYHGKLIFPREFPFKPPSIYMITPNGRFKCNTRLCLSITDFHPDTWNPAWSVSTILTGLLSFMVEKGPTLGSIETSDFTKRQLAVQSLAFNLKDKVFCELFPEVVEEIKQKQKAQDELSSRPQTLPLPDVVPDGETHLVQNGIQLLNGHAPGAVPNLAGLQQANRHHGLLGGALANLFVIVGFAAFAYTVKYVLRSIAQE||,C|downstream_gene_variant|MODIFIER|UBE2J2|ENSG00000160087|Transcript|ENST00000349431|protein_coding|||||||||||3893|-1||SNV|HGNC|HGNC:19268|YES|NM_058167.3||1|P1|CCDS14.1|ENSP00000305826|Q8N2K1.173|A0A024R075.58|UPI0000149EE7|Q8N2K1-1|||||||||||||||||||||||||||||||||||||||||||||MSSTSSKRAPTTATQRLKQDYLRIKKDPVPYICAEPLPSNILEWHYVVRGPEMTPYEGGYYHGKLIFPREFPFKPPSIYMITPNGRFKCNTRLCLSITDFHPDTWNPAWSVSTILTGLLSFMVEKGPTLGSIETSDFTKRQLAVQSLAFNLKDKVFCELFPEVVEEIKQKQKAQDELSSRPQTLPLPDVVPDGETHLVQNGIQLLNGHAPGAVPNLAGLQQANRHHGLLGGALANLFVIVGFAAFAYTVKYVLRSIAQE||,C|downstream_gene_variant|MODIFIER|UBE2J2|ENSG00000160087|Transcript|ENST00000400929|protein_coding|||||||||||4966|-1||SNV|HGNC|HGNC:19268||||3||CCDS16.1|ENSP00000383718||A6NGS0.132|UPI00001D69FA||||||||||||||||||||||||||||||||||||||||||||||MTPYEGGYYHGKLIFPREFPFKPPSIYMITPNGRFKCNTRLCLSITDFHPDTWNPAWSVSTILTGLLSFMVEKGPTLGSIETSDFTKRQLAVQSLAFNLKDKVFCELFPEVVEEIKQKQKAQDELSSRPQTLPLPDVVPDGETHLVQNGIQLLNGHAPGAVPNLAGLQQANRHHGLLGGALANLFVIVGFAAFAYTVKYVLRSIAQE||,C|downstream_gene_variant|MODIFIER|UBE2J2|ENSG00000160087|Transcript|ENST00000450390|nonsense_mediated_decay|||||||||||3890|-1||SNV|HGNC|HGNC:19268||||5|||ENSP00000407565||D6REN4.90|UPI0001D3BBF2||||||||||||||||||||||||||||||||||||||||||||||MSSTSSKRAPTTATQRLKQDYLRIKKDPVPYICAEPLPSNILE||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000260179|Transcript|ENST00000565563|lncRNA|1/1||ENST00000565563.1:n.1316A>G||1316|||||||-1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344552|CTCF_binding_site||||||||||||||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918427|promoter||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 1254620 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=31%2C38|1%2C1;DP=75;ECNT=1;GERMQ=93;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=101;POPAF=7.3;TLOD=4.4;SRC=custom;GRP=custom;CSQ=C|3_prime_UTR_variant|MODIFIER|UBE2J2|ENSG00000160087|Transcript|ENST00000347370|protein_coding|7/7||ENST00000347370.6:c.*583A>G||1681|||||||-1||SNV|HGNC|HGNC:19268||||3||CCDS16.1|ENSP00000344857||A6NGS0.132|UPI00001D69FA||||||||||||||||||||||||||||||||||||||||||||||MTPYEGGYYHGKLIFPREFPFKPPSIYMITPNGRFKCNTRLCLSITDFHPDTWNPAWSVSTILTGLLSFMVEKGPTLGSIETSDFTKRQLAVQSLAFNLKDKVFCELFPEVVEEIKQKQKAQDELSSRPQTLPLPDVVPDGETHLVQNGIQLLNGHAPGAVPNLAGLQQANRHHGLLGGALANLFVIVGFAAFAYTVKYVLRSIAQE||,C|3_prime_UTR_variant|MODIFIER|UBE2J2|ENSG00000160087|Transcript|ENST00000349431|protein_coding|7/7||ENST00000349431.11:c.*583A>G||1552|||||||-1||SNV|HGNC|HGNC:19268|YES|NM_058167.3||1|P1|CCDS14.1|ENSP00000305826|Q8N2K1.173|A0A024R075.58|UPI0000149EE7|Q8N2K1-1|||||||||||||||||||||||||||||||||||||||||||||MSSTSSKRAPTTATQRLKQDYLRIKKDPVPYICAEPLPSNILEWHYVVRGPEMTPYEGGYYHGKLIFPREFPFKPPSIYMITPNGRFKCNTRLCLSITDFHPDTWNPAWSVSTILTGLLSFMVEKGPTLGSIETSDFTKRQLAVQSLAFNLKDKVFCELFPEVVEEIKQKQKAQDELSSRPQTLPLPDVVPDGETHLVQNGIQLLNGHAPGAVPNLAGLQQANRHHGLLGGALANLFVIVGFAAFAYTVKYVLRSIAQE||,C|downstream_gene_variant|MODIFIER|UBE2J2|ENSG00000160087|Transcript|ENST00000360466|protein_coding|||||||||||544|-1||SNV|HGNC|HGNC:19268||||2|P1|CCDS14.1|ENSP00000353653|Q8N2K1.173|A0A024R075.58|UPI0000149EE7|Q8N2K1-1|||||||||||||||||||||||||||||||||||||||||||||MSSTSSKRAPTTATQRLKQDYLRIKKDPVPYICAEPLPSNILEWHYVVRGPEMTPYEGGYYHGKLIFPREFPFKPPSIYMITPNGRFKCNTRLCLSITDFHPDTWNPAWSVSTILTGLLSFMVEKGPTLGSIETSDFTKRQLAVQSLAFNLKDKVFCELFPEVVEEIKQKQKAQDELSSRPQTLPLPDVVPDGETHLVQNGIQLLNGHAPGAVPNLAGLQQANRHHGLLGGALANLFVIVGFAAFAYTVKYVLRSIAQE||,C|downstream_gene_variant|MODIFIER|UBE2J2|ENSG00000160087|Transcript|ENST00000400929|protein_coding|||||||||||365|-1||SNV|HGNC|HGNC:19268||||3||CCDS16.1|ENSP00000383718||A6NGS0.132|UPI00001D69FA||||||||||||||||||||||||||||||||||||||||||||||MTPYEGGYYHGKLIFPREFPFKPPSIYMITPNGRFKCNTRLCLSITDFHPDTWNPAWSVSTILTGLLSFMVEKGPTLGSIETSDFTKRQLAVQSLAFNLKDKVFCELFPEVVEEIKQKQKAQDELSSRPQTLPLPDVVPDGETHLVQNGIQLLNGHAPGAVPNLAGLQQANRHHGLLGGALANLFVIVGFAAFAYTVKYVLRSIAQE||,C|downstream_gene_variant|MODIFIER|UBE2J2|ENSG00000160087|Transcript|ENST00000400930|protein_coding|||||||||||558|-1||SNV|HGNC|HGNC:19268||||5||CCDS15.1|ENSP00000383719|Q8N2K1.173||UPI00001D69F8|Q8N2K1-3|||||||||||||||||||||||||||||||||||||||||||||MSSTSSKRAPTTATQRLKQDYLRIKKDPVPYICAEPLPSNILEWFKRFSWLSLLSSWDYRHYVVRGPEMTPYEGGYYHGKLIFPREFPFKPPSIYMITPNGRFKCNTRLCLSITDFHPDTWNPAWSVSTILTGLLSFMVEKGPTLGSIETSDFTKRQLAVQSLAFNLKDKVFCELFPEVVEEIKQKQKAQDELSSRPQTLPLPDVVPDGETHLVQNGIQLLNGHAPGAVPNLAGLQQANRHHGLLGGALANLFVIVGFAAFAYTVKYVLRSIAQE||,C|downstream_gene_variant|MODIFIER|UBE2J2|ENSG00000160087|Transcript|ENST00000422076|protein_coding|||||||||||2607|-1|cds_end_NF|SNV|HGNC|HGNC:19268||||5|||ENSP00000401898||B1AMF1.93|UPI0000E59261||||||||||||||||||||||||||||||||||||||||||||||MSSTSSKRAPTTATQRLKQDYLRIKKDPVPYICAEPLPSNILEWFKRFSWLSLLSSWDYRHYVVRGPEMTPYEGGYYHGKLIFPREFPFKPPSIYMITPNG||,C|downstream_gene_variant|MODIFIER|UBE2J2|ENSG00000160087|Transcript|ENST00000435198|protein_coding|||||||||||775|-1|cds_end_NF|SNV|HGNC|HGNC:19268||||3|||ENSP00000393301||B1AMF0.94|UPI0000470BCD||||||||||||||||||||||||||||||||||||||||||||||MSSTSSKRAPTTATQRLKQDYLRIKKDPVPYICAEPLPSNILEWHYVVRGPEMTPYEGGYYHGKLIFPREFPFKPPSIYMITPNGRFKCNTRLCLSITDFHPDTWNPAWSVSTILTGLLSFMVEKGPTLGSIETSDFTKRQLAVQSLAFNLKDKVFCELFPEVVEEIKQKQKAQDELSSRPQTLPLPDVVPDGETH||,C|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|UBE2J2|ENSG00000160087|Transcript|ENST00000450390|nonsense_mediated_decay|8/8||ENST00000450390.6:c.*1424A>G||1744|||||||-1||SNV|HGNC|HGNC:19268||||5|||ENSP00000407565||D6REN4.90|UPI0001D3BBF2||||||||||||||||||||||||||||||||||||||||||||||MSSTSSKRAPTTATQRLKQDYLRIKKDPVPYICAEPLPSNILE||,C|downstream_gene_variant|MODIFIER|UBE2J2|ENSG00000160087|Transcript|ENST00000464036|nonsense_mediated_decay|||||||||||428|-1||SNV|HGNC|HGNC:19268||||3|||ENSP00000423880||D6RC43.69|UPI00001D69F9||||||||||||||||||||||||||||||||||||||||||||||MSSTSSKRAPTTATQRLKQDYLRIKKDPVPYICAEPLPSNILEWHYVVRGPEMTPYEGIPVLDHLQLGQPECGSTSVGWALHHRVIAHDQRWGCQQAVVAIIMEN||,C|downstream_gene_variant|MODIFIER|UBE2J2|ENSG00000160087|Transcript|ENST00000466752|nonsense_mediated_decay|||||||||||2372|-1||SNV|HGNC|HGNC:19268||||3|||ENSP00000422103||D6R9H0.90|UPI00002059A6||||||||||||||||||||||||||||||||||||||||||||||MSSTSSKRAPTTATQRLKQDYLRIKKDPVPYICAEPLPSNILEW||,C|downstream_gene_variant|MODIFIER|UBE2J2|ENSG00000160087|Transcript|ENST00000467339|protein_coding_CDS_not_defined|||||||||||644|-1||SNV|HGNC|HGNC:19268||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|UBE2J2|ENSG00000160087|Transcript|ENST00000471154|retained_intron|||||||||||2502|-1||SNV|HGNC|HGNC:19268||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|UBE2J2|ENSG00000160087|Transcript|ENST00000473215|nonsense_mediated_decay|||||||||||648|-1||SNV|HGNC|HGNC:19268||||3|||ENSP00000427024||D6R9H0.90|UPI00002059A6||||||||||||||||||||||||||||||||||||||||||||||MSSTSSKRAPTTATQRLKQDYLRIKKDPVPYICAEPLPSNILEW||,C|downstream_gene_variant|MODIFIER|UBE2J2|ENSG00000160087|Transcript|ENST00000477894|nonsense_mediated_decay|||||||||||2429|-1||SNV|HGNC|HGNC:19268||||5|||ENSP00000423480||D6RA15.67|UPI0001D3BBF4||||||||||||||||||||||||||||||||||||||||||||||MSSTSSKRAPTTATQRLKQDYLRIKKDPVPYICAEPLPSNILEWHYVVRGPEMTPYEGIPVLDHLQLGQPECGSTSVGWALHHRVIAHDQRWGCQQAVVR||,C|downstream_gene_variant|MODIFIER|UBE2J2|ENSG00000160087|Transcript|ENST00000491779|protein_coding_CDS_not_defined|||||||||||1429|-1||SNV|HGNC|HGNC:19268||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|UBE2J2|ENSG00000160087|Transcript|ENST00000502382|protein_coding|||||||||||2650|-1|cds_end_NF|SNV|HGNC|HGNC:19268||||4|||ENSP00000424342||D6RB84.69|UPI0001D3BBF5||||||||||||||||||||||||||||||||||||||||||||||MSSTSSKRAPTTATQRLKQDYLRIKKDPVPYICAEPLPSNILEWHYVVRGPEMTPYEGGYYHGKLIFPREF||,C|downstream_gene_variant|MODIFIER|UBE2J2|ENSG00000160087|Transcript|ENST00000503294|nonsense_mediated_decay|||||||||||2391|-1||SNV|HGNC|HGNC:19268||||4|||ENSP00000425543||D6R9H0.90|UPI00002059A6||||||||||||||||||||||||||||||||||||||||||||||MSSTSSKRAPTTATQRLKQDYLRIKKDPVPYICAEPLPSNILEW||,C|downstream_gene_variant|MODIFIER|UBE2J2|ENSG00000160087|Transcript|ENST00000509720|protein_coding|||||||||||819|-1|cds_end_NF|SNV|HGNC|HGNC:19268||||3|||ENSP00000425419||D6RD90.70|UPI0002841248||||||||||||||||||||||||||||||||||||||||||||||MVEKGPTLGSIETSDFTKRQLAVQSLAFNLKDKVFCELFPEVVEEIKQKQKAQDELSSRP||,C|upstream_gene_variant|MODIFIER||ENSG00000260179|Transcript|ENST00000565563|lncRNA|||||||||||3286|-1||SNV|||YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:69,2:0.041:71:9,0:28,1:46,1:31,38,1,1 -chr2 130229486 . G A . clustered_events;haplotype;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|4%2C4;DP=8;ECNT=3;GERMQ=59;MBQ=0,32;MFRL=0,0;MMQ=60,26;MPOS=5;POPAF=7.3;TLOD=35.3;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA|||||||||||1869|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.108G>A||108|||||||1||SNV|HGNC|HGNC:52285|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000123074|promoter||||||||||||||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00097459372|||||||||||||1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||ENSPFM0120|1|N|0.010|ERF::MAX&FLI1::MAX||||,A|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00189266042|||||||||||||1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||ENSPFM0260|3|N|-0.019|GCM2::MAX||||,A|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00000036076|||||||||||||1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||ENSPFM0216|10|N|-0.018|GCM1::ELF1||||,A|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00189228097|||||||||||||-1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||ENSPFM0365|14|Y|-0.033|MAX&TFAP4::MAX&CLOCK::BHLHA15|||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,8:0.833:8:0,0:0,4:0,4:0|1:130229486_G_A:130229486:0,0,4,4 -chr2 130229486 . G A . clustered_events;haplotype;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=3;GERMQ=43;MBQ=0,31;MFRL=0,0;MMQ=60,36;MPOS=1;POPAF=7.3;TLOD=8.7;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA|||||||||||1869|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.108G>A||108|||||||1||SNV|HGNC|HGNC:52285|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000123074|promoter||||||||||||||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00097459372|||||||||||||1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||ENSPFM0120|1|N|0.010|ERF::MAX&FLI1::MAX||||,A|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00189266042|||||||||||||1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||ENSPFM0260|3|N|-0.019|GCM2::MAX||||,A|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00000036076|||||||||||||1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||ENSPFM0216|10|N|-0.018|GCM1::ELF1||||,A|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00189228097|||||||||||||-1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||ENSPFM0365|14|Y|-0.033|MAX&TFAP4::MAX&CLOCK::BHLHA15|||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,2:0.667:2:0,0:0,1:0,1:0|1:130229486_G_A:130229486:0,0,1,1 -chr2 130229492 . G A . clustered_events;haplotype;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|4%2C7;DP=12;ECNT=3;GERMQ=67;MBQ=0,32;MFRL=0,0;MMQ=60,21;MPOS=9;POPAF=7.3;TLOD=42.42;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA|||||||||||1863|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.114G>A||114|||||||1||SNV|HGNC|HGNC:52285|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000123074|promoter||||||||||||||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00097459372|||||||||||||1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||ENSPFM0120|7|Y|0.068|ERF::MAX&FLI1::MAX||||,A|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00189266042|||||||||||||1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||ENSPFM0260|9|N|0.009|GCM2::MAX||||,A|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00189228097|||||||||||||-1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||ENSPFM0365|8|N|0.004|MAX&TFAP4::MAX&CLOCK::BHLHA15|||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,11:0.893:11:0,3:0,4:0,7:0|1:130229486_G_A:130229486:0,0,4,7 -chr2 130229492 . G A . clustered_events;haplotype;strand_bias;weak_evidence AS_FilterStatus=weak_evidence,strand_bias;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=3;GERMQ=45;MBQ=0,33;MFRL=0,0;MMQ=60,36;MPOS=7;POPAF=7.3;TLOD=10.99;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA|||||||||||1863|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.114G>A||114|||||||1||SNV|HGNC|HGNC:52285|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000123074|promoter||||||||||||||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00097459372|||||||||||||1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||ENSPFM0120|7|Y|0.068|ERF::MAX&FLI1::MAX||||,A|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00189266042|||||||||||||1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||ENSPFM0260|9|N|0.009|GCM2::MAX||||,A|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00189228097|||||||||||||-1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||ENSPFM0365|8|N|0.004|MAX&TFAP4::MAX&CLOCK::BHLHA15|||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.75:3:0,1:0,1:0,2:0|1:130229486_G_A:130229486:0,0,1,2 -chr2 130229520 . G A . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|6%2C11;DP=17;ECNT=3;GERMQ=85;MBQ=0,34;MFRL=0,0;MMQ=60,21;MPOS=28;POPAF=7.3;TLOD=45.76;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA||||||||||rs878912606|1835|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.142G>A||142|||||rs878912606||1||SNV|HGNC|HGNC:52285|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000123074|promoter||||||||||rs878912606||||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00523539902|||||||||||rs878912606||1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||ENSPFM0506|12|N|-0.027|TEAD4::SPIB&TEAD4::ELF1&TEAD4::ELK1|||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,17:0.923:17:0,4:0,6:0,11:0,0,6,11 -chr2 130229520 . G A . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|4%2C3;DP=7;ECNT=3;GERMQ=57;MBQ=0,33;MFRL=0,0;MMQ=60,20;MPOS=25;POPAF=7.3;TLOD=19.17;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA||||||||||rs878912606|1835|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.142G>A||142|||||rs878912606||1||SNV|HGNC|HGNC:52285|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000123074|promoter||||||||||rs878912606||||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00523539902|||||||||||rs878912606||1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||ENSPFM0506|12|N|-0.027|TEAD4::SPIB&TEAD4::ELF1&TEAD4::ELK1|||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,7:0.875:7:0,2:0,4:0,6:0,0,4,3 -chr2 130229579 . T C . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|10%2C13;DP=25;ECNT=3;GERMQ=93;MBQ=0,34;MFRL=0,0;MMQ=60,20;MPOS=96;POPAF=7.3;TLOD=58.28;SRC=custom;GRP=custom;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA||||||||||rs878955194|1776|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.201T>C||201|||||rs878955194||1||SNV|HGNC|HGNC:52285|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000123074|promoter||||||||||rs878955194||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,23:0.939:23:0,4:0,10:0,14:0,0,10,13 -chr2 130229579 . T C . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|5%2C4;DP=11;ECNT=3;GERMQ=63;MBQ=0,34;MFRL=0,0;MMQ=60,20;MPOS=89;POPAF=7.3;TLOD=21.99;SRC=custom;GRP=custom;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA||||||||||rs878955194|1776|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.201T>C||201|||||rs878955194||1||SNV|HGNC|HGNC:52285|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000123074|promoter||||||||||rs878955194||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,9:0.903:9:0,3:0,5:0,8:0,0,5,4 -chr2 130229607 . G C . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|2%2C7;DP=18;ECNT=3;GERMQ=62;MBQ=0,35;MFRL=0,0;MMQ=60,20;MPOS=115;POPAF=7.3;TLOD=21.45;SRC=custom;GRP=custom;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA||||||||||rs13407565|1748|1||SNV|||YES||||||||||||||||||||||||||||||||0.03621|0.1146|0|0.02514|0.01894|0.002769|9.901e-05|0.04082|0.001789|0.03775|0.001605|0.1146|gnomADg_AFR|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.229G>C||229|||||rs13407565||1||SNV|HGNC|HGNC:52285|YES||||||||||||||||||||||||||||||||0.03621|0.1146|0|0.02514|0.01894|0.002769|9.901e-05|0.04082|0.001789|0.03775|0.001605|0.1146|gnomADg_AFR|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000123074|promoter||||||||||rs13407565||||SNV|||||||||||||||||||||||||||||||||||0.03621|0.1146|0|0.02514|0.01894|0.002769|9.901e-05|0.04082|0.001789|0.03775|0.001605|0.1146|gnomADg_AFR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,9:0.906:9:0,3:0,2:0,7:0,0,2,7 -chr2 130229607 . G C . clustered_events;map_qual;weak_evidence AS_FilterStatus=weak_evidence,map_qual;AS_SB_TABLE=0%2C0|3%2C2;DP=9;ECNT=3;GERMQ=51;MBQ=0,34;MFRL=0,0;MMQ=60,20;MPOS=111;POPAF=7.3;TLOD=11.61;SRC=custom;GRP=custom;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA||||||||||rs13407565|1748|1||SNV|||YES||||||||||||||||||||||||||||||||0.03621|0.1146|0|0.02514|0.01894|0.002769|9.901e-05|0.04082|0.001789|0.03775|0.001605|0.1146|gnomADg_AFR|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.229G>C||229|||||rs13407565||1||SNV|HGNC|HGNC:52285|YES||||||||||||||||||||||||||||||||0.03621|0.1146|0|0.02514|0.01894|0.002769|9.901e-05|0.04082|0.001789|0.03775|0.001605|0.1146|gnomADg_AFR|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000123074|promoter||||||||||rs13407565||||SNV|||||||||||||||||||||||||||||||||||0.03621|0.1146|0|0.02514|0.01894|0.002769|9.901e-05|0.04082|0.001789|0.03775|0.001605|0.1146|gnomADg_AFR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.873:5:0,1:0,3:0,5:0,0,3,2 -chr2 130229647 . A T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C6;DP=11;ECNT=3;GERMQ=65;MBQ=0,33;MFRL=0,0;MMQ=60,52;MPOS=10;POPAF=7.3;TLOD=33.32;SRC=custom;GRP=custom;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA||||||||||rs1298905591|1708|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.269A>T||269|||||rs1298905591||1||SNV|HGNC|HGNC:52285|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000123074|promoter||||||||||rs1298905591||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,10:0.88:10:0,2:0,4:0,6:0,0,4,6 -chr2 130229647 . A T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|7%2C7;DP=19;ECNT=3;GERMQ=78;MBQ=0,33;MFRL=0,0;MMQ=60,44;MPOS=9;POPAF=7.3;TLOD=46.52;SRC=custom;GRP=custom;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA||||||||||rs1298905591|1708|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.269A>T||269|||||rs1298905591||1||SNV|HGNC|HGNC:52285|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000123074|promoter||||||||||rs1298905591||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,14:0.932:14:0,4:0,7:0,11:0,0,7,7 -chr2 130229689 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|6%2C8;DP=14;ECNT=8;GERMQ=76;MBQ=0,33;MFRL=0,0;MMQ=60,50;MPOS=50;POPAF=7.3;TLOD=50.62;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA||||||||||rs1238831323|1666|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.311A>G||311|||||rs1238831323||1||SNV|HGNC|HGNC:52285|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000123074|promoter||||||||||rs1238831323||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,14:0.9:14:0,2:0,6:0,8:0,0,6,8 -chr2 130229689 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|11%2C10;DP=21;ECNT=8;GERMQ=93;MBQ=0,34;MFRL=0,0;MMQ=60,43;MPOS=46;POPAF=7.3;TLOD=73.07;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA||||||||||rs1238831323|1666|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.311A>G||311|||||rs1238831323||1||SNV|HGNC|HGNC:52285|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000123074|promoter||||||||||rs1238831323||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,21:0.944:21:0,5:0,11:0,16:0,0,11,10 -chr2 130229709 . T G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|6%2C8;DP=14;ECNT=8;GERMQ=76;MBQ=0,33;MFRL=0,0;MMQ=60,50;MPOS=70;POPAF=7.3;TLOD=49.72;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA||||||||||rs113034866|1646|1||SNV|||YES||||||||||||||||||||||||||||||||0|0|0|0|0|0|0|0|0|0|0|0|gnomADg_AFR&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.331T>G||331|||||rs113034866||1||SNV|HGNC|HGNC:52285|YES||||||||||||||||||||||||||||||||0|0|0|0|0|0|0|0|0|0|0|0|gnomADg_AFR&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000123074|promoter||||||||||rs113034866||||SNV|||||||||||||||||||||||||||||||||||0|0|0|0|0|0|0|0|0|0|0|0|gnomADg_AFR&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,14:0.9:14:0,2:0,6:0,8:0,0,6,8 -chr2 130229709 . T G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|11%2C10;DP=21;ECNT=8;GERMQ=93;MBQ=0,34;MFRL=0,0;MMQ=60,43;MPOS=66;POPAF=7.3;TLOD=73.07;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA||||||||||rs113034866|1646|1||SNV|||YES||||||||||||||||||||||||||||||||0|0|0|0|0|0|0|0|0|0|0|0|gnomADg_AFR&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.331T>G||331|||||rs113034866||1||SNV|HGNC|HGNC:52285|YES||||||||||||||||||||||||||||||||0|0|0|0|0|0|0|0|0|0|0|0|gnomADg_AFR&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000123074|promoter||||||||||rs113034866||||SNV|||||||||||||||||||||||||||||||||||0|0|0|0|0|0|0|0|0|0|0|0|gnomADg_AFR&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,21:0.944:21:0,5:0,11:0,16:0,0,11,10 -chr2 130229735 . T G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|6%2C8;DP=14;ECNT=8;GERMQ=76;MBQ=0,33;MFRL=0,0;MMQ=60,50;MPOS=96;POPAF=7.3;TLOD=38.77;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA||||||||||rs962351221|1620|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.357T>G||357|||||rs962351221||1||SNV|HGNC|HGNC:52285|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000123074|promoter||||||||||rs962351221||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,14:0.9:14:0,2:0,6:0,8:0,0,6,8 -chr2 130229735 . T G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|11%2C10;DP=21;ECNT=8;GERMQ=93;MBQ=0,34;MFRL=0,0;MMQ=60,43;MPOS=92;POPAF=7.3;TLOD=73.07;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA||||||||||rs962351221|1620|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.357T>G||357|||||rs962351221||1||SNV|HGNC|HGNC:52285|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000123074|promoter||||||||||rs962351221||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,21:0.944:21:0,5:0,11:0,16:0,0,11,10 -chr2 130229747 . A G . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|7%2C10;DP=17;ECNT=8;GERMQ=85;MBQ=0,32;MFRL=0,0;MMQ=60,49;MPOS=105;POPAF=7.3;TLOD=75.46;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA||||||||||rs111986150|1608|1||SNV|||YES||||||||||||||||||||||||||||||||0|0|0|0|0|0|0|0|0|0|0|0|gnomADg_AFR&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.369A>G||369|||||rs111986150||1||SNV|HGNC|HGNC:52285|YES||||||||||||||||||||||||||||||||0|0|0|0|0|0|0|0|0|0|0|0|gnomADg_AFR&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000123074|promoter||||||||||rs111986150||||SNV|||||||||||||||||||||||||||||||||||0|0|0|0|0|0|0|0|0|0|0|0|gnomADg_AFR&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,17:0.917:17:0,3:0,7:0,10:0|1:130229747_A_G:130229747:0,0,7,10 -chr2 130229747 . A G . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|12%2C10;DP=22;ECNT=8;GERMQ=93;MBQ=0,32;MFRL=0,0;MMQ=60,39;MPOS=104;POPAF=7.3;TLOD=97.74;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA||||||||||rs111986150|1608|1||SNV|||YES||||||||||||||||||||||||||||||||0|0|0|0|0|0|0|0|0|0|0|0|gnomADg_AFR&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.369A>G||369|||||rs111986150||1||SNV|HGNC|HGNC:52285|YES||||||||||||||||||||||||||||||||0|0|0|0|0|0|0|0|0|0|0|0|gnomADg_AFR&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000123074|promoter||||||||||rs111986150||||SNV|||||||||||||||||||||||||||||||||||0|0|0|0|0|0|0|0|0|0|0|0|gnomADg_AFR&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,22:0.947:22:0,5:0,12:0,17:0|1:130229747_A_G:130229747:0,0,12,10 -chr2 130229753 . G A . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|8%2C11;DP=19;ECNT=8;GERMQ=91;MBQ=0,33;MFRL=0,0;MMQ=60,49;MPOS=111;POPAF=7.3;TLOD=82.34;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA||||||||||rs1169948624|1602|1||SNV|||YES||||||||||||||||||||||||||||||||6.57e-06|0|0|6.54e-05|0|0|0|0|0|0|0|6.54e-05|gnomADg_AMR|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.375G>A||375|||||rs1169948624||1||SNV|HGNC|HGNC:52285|YES||||||||||||||||||||||||||||||||6.57e-06|0|0|6.54e-05|0|0|0|0|0|0|0|6.54e-05|gnomADg_AMR|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000123074|promoter||||||||||rs1169948624||||SNV|||||||||||||||||||||||||||||||||||6.57e-06|0|0|6.54e-05|0|0|0|0|0|0|0|6.54e-05|gnomADg_AMR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,19:0.929:19:0,3:0,6:0,12:0|1:130229747_A_G:130229747:0,0,8,11 -chr2 130229753 . G A . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|13%2C11;DP=24;ECNT=8;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,40;MPOS=110;POPAF=7.3;TLOD=104.51;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA||||||||||rs1169948624|1602|1||SNV|||YES||||||||||||||||||||||||||||||||6.57e-06|0|0|6.54e-05|0|0|0|0|0|0|0|6.54e-05|gnomADg_AMR|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.375G>A||375|||||rs1169948624||1||SNV|HGNC|HGNC:52285|YES||||||||||||||||||||||||||||||||6.57e-06|0|0|6.54e-05|0|0|0|0|0|0|0|6.54e-05|gnomADg_AMR|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000123074|promoter||||||||||rs1169948624||||SNV|||||||||||||||||||||||||||||||||||6.57e-06|0|0|6.54e-05|0|0|0|0|0|0|0|6.54e-05|gnomADg_AMR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,24:0.952:24:0,5:0,12:0,19:0|1:130229747_A_G:130229747:0,0,13,11 -chr2 130229756 . G A . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|8%2C11;DP=19;ECNT=8;GERMQ=91;MBQ=0,33;MFRL=0,0;MMQ=60,49;MPOS=111;POPAF=7.3;TLOD=82.34;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA||||||||||rs1476551202|1599|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.378G>A||378|||||rs1476551202||1||SNV|HGNC|HGNC:52285|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000123074|promoter||||||||||rs1476551202||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,19:0.929:19:0,4:0,8:0,12:0|1:130229747_A_G:130229747:0,0,8,11 -chr2 130229756 . G A . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|14%2C12;DP=26;ECNT=8;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,36;MPOS=109;POPAF=7.3;TLOD=111.22;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA||||||||||rs1476551202|1599|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.378G>A||378|||||rs1476551202||1||SNV|HGNC|HGNC:52285|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000123074|promoter||||||||||rs1476551202||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,26:0.955:26:0,6:0,14:0,20:0|1:130229747_A_G:130229747:0,0,14,12 -chr2 130229803 . G C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|7%2C9;DP=18;ECNT=8;GERMQ=82;MBQ=0,34;MFRL=0,0;MMQ=60,41;MPOS=27;POPAF=7.3;TLOD=57.79;SRC=custom;GRP=custom;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA||||||||||rs1259265109|1552|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.425G>C||425|||||rs1259265109||1||SNV|HGNC|HGNC:52285|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000123074|promoter||||||||||rs1259265109||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,16:0.935:16:0,6:0,7:0,13:0,0,7,9 -chr2 130229803 . G C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|8%2C9;DP=17;ECNT=8;GERMQ=87;MBQ=0,33;MFRL=0,0;MMQ=60,34;MPOS=40;POPAF=7.3;TLOD=60.39;SRC=custom;GRP=custom;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA||||||||||rs1259265109|1552|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.425G>C||425|||||rs1259265109||1||SNV|HGNC|HGNC:52285|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000123074|promoter||||||||||rs1259265109||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,17:0.923:17:0,1:0,8:0,11:0,0,8,9 -chr2 130229817 . C G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|11%2C11;DP=22;ECNT=8;GERMQ=93;MBQ=0,32;MFRL=0,0;MMQ=60,40;MPOS=30;POPAF=7.3;TLOD=78.38;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA||||||||||rs943569739|1538|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.439C>G||439|||||rs943569739||1||SNV|HGNC|HGNC:52285|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000123074|promoter||||||||||rs943569739||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,22:0.947:22:0,6:0,11:0,17:0,0,11,11 -chr2 130229817 . C G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C1|10%2C11;DP=22;ECNT=8;GERMQ=81;MBQ=34,32;MFRL=0,0;MMQ=34,36;MPOS=17;POPAF=7.3;TLOD=73.65;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA||||||||||rs943569739|1538|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.439C>G||439|||||rs943569739||1||SNV|HGNC|HGNC:52285|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000123074|promoter||||||||||rs943569739||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,21:0.867:22:0,1:0,10:1,12:0,1,10,11 -chr2 130229920 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|12%2C11;DP=27;ECNT=1;GERMQ=93;MBQ=0,32;MFRL=0,0;MMQ=60,40;MPOS=99;POPAF=7.3;TLOD=79.42;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA||||||||||rs962631108|1435|1||SNV|||YES||||||||||||||||||||||||||||||||0.0001051|0|0|0.0009817|0|0|0|0|1.47e-05|0|0|0.0009817|gnomADg_AMR|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.542A>G||542|||||rs962631108||1||SNV|HGNC|HGNC:52285|YES||||||||||||||||||||||||||||||||0.0001051|0|0|0.0009817|0|0|0|0|1.47e-05|0|0|0.0009817|gnomADg_AMR|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000123074|promoter||||||||||rs962631108||||SNV|||||||||||||||||||||||||||||||||||0.0001051|0|0|0.0009817|0|0|0|0|1.47e-05|0|0|0.0009817|gnomADg_AMR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,23:0.945:23:0,3:0,12:0,15:0,0,12,11 -chr2 130229920 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|15%2C13;DP=28;ECNT=2;GERMQ=93;MBQ=0,32;MFRL=0,0;MMQ=60,36;MPOS=103;POPAF=7.3;TLOD=99.17;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA||||||||||rs962631108|1435|1||SNV|||YES||||||||||||||||||||||||||||||||0.0001051|0|0|0.0009817|0|0|0|0|1.47e-05|0|0|0.0009817|gnomADg_AMR|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.542A>G||542|||||rs962631108||1||SNV|HGNC|HGNC:52285|YES||||||||||||||||||||||||||||||||0.0001051|0|0|0.0009817|0|0|0|0|1.47e-05|0|0|0.0009817|gnomADg_AMR|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000123074|promoter||||||||||rs962631108||||SNV|||||||||||||||||||||||||||||||||||0.0001051|0|0|0.0009817|0|0|0|0|1.47e-05|0|0|0.0009817|gnomADg_AMR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,28:0.95:28:0,3:0,15:0,18:0,0,15,13 -chr2 130230633 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C5;DP=8;ECNT=5;GERMQ=59;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=17;POPAF=7.3;TLOD=26.65;SRC=custom;GRP=custom;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA||||||||||rs1263612383|722|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.1255T>C||1255|||||rs1263612383||1||SNV|HGNC|HGNC:52285|YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.874:8:0,2:0,3:0,6:0,0,3,5 -chr2 130230633 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C3;DP=7;ECNT=4;GERMQ=57;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=16;POPAF=7.3;TLOD=26.18;SRC=custom;GRP=custom;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA||||||||||rs1263612383|722|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.1255T>C||1255|||||rs1263612383||1||SNV|HGNC|HGNC:52285|YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,7:0.857:7:0,1:0,4:0,5:0,0,4,3 -chr2 130230668 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|7%2C8;DP=15;ECNT=5;GERMQ=79;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=40;POPAF=7.3;TLOD=53.27;SRC=custom;GRP=custom;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA||||||||||rs1191311078|687|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.1290T>C||1290|||||rs1191311078||1||SNV|HGNC|HGNC:52285|YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,15:0.923:15:0,4:0,7:0,11:0,0,7,8 -chr2 130230668 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|6%2C6;DP=12;ECNT=4;GERMQ=72;MBQ=0,34;MFRL=0,0;MMQ=60,41;MPOS=39;POPAF=7.3;TLOD=42.91;SRC=custom;GRP=custom;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA||||||||||rs1191311078|687|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.1290T>C||1290|||||rs1191311078||1||SNV|HGNC|HGNC:52285|YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,12:0.9:12:0,2:0,6:0,8:0,0,6,6 -chr2 130230679 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|7%2C8;DP=15;ECNT=5;GERMQ=79;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=51;POPAF=7.3;TLOD=46.42;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA||||||||||rs1182874889|676|1||SNV|||YES||||||||||||||||||||||||||||||||6.569e-06|0|0|0|0|0|0|0|1.47e-05|0|0|1.47e-05|gnomADg_NFE|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.1301G>A||1301|||||rs1182874889||1||SNV|HGNC|HGNC:52285|YES||||||||||||||||||||||||||||||||6.569e-06|0|0|0|0|0|0|0|1.47e-05|0|0|1.47e-05|gnomADg_NFE||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,15:0.922:15:0,2:0,7:0,11:0,0,7,8 -chr2 130230679 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|6%2C6;DP=12;ECNT=4;GERMQ=72;MBQ=0,33;MFRL=0,0;MMQ=60,41;MPOS=50;POPAF=7.3;TLOD=42.41;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA||||||||||rs1182874889|676|1||SNV|||YES||||||||||||||||||||||||||||||||6.569e-06|0|0|0|0|0|0|0|1.47e-05|0|0|1.47e-05|gnomADg_NFE|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.1301G>A||1301|||||rs1182874889||1||SNV|HGNC|HGNC:52285|YES||||||||||||||||||||||||||||||||6.569e-06|0|0|0|0|0|0|0|1.47e-05|0|0|1.47e-05|gnomADg_NFE||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,12:0.9:12:0,2:0,6:0,8:0,0,6,6 -chr2 130230727 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|7%2C8;DP=15;ECNT=5;GERMQ=79;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=99;POPAF=7.3;TLOD=52.87;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA||||||||||rs878861272|628|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.1349A>G||1349|||||rs878861272||1||SNV|HGNC|HGNC:52285|YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,15:0.923:15:0,4:0,7:0,11:0,0,7,8 -chr2 130230727 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|6%2C6;DP=12;ECNT=4;GERMQ=72;MBQ=0,32;MFRL=0,0;MMQ=60,41;MPOS=98;POPAF=7.3;TLOD=42.06;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA||||||||||rs878861272|628|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.1349A>G||1349|||||rs878861272||1||SNV|HGNC|HGNC:52285|YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,12:0.9:12:0,2:0,6:0,8:0,0,6,6 -chr2 130230790 . A G . clustered_events;map_qual;strand_bias;weak_evidence AS_FilterStatus=weak_evidence,map_qual,strand_bias;AS_SB_TABLE=0%2C0|2%2C1;DP=7;ECNT=5;GERMQ=44;MBQ=0,31;MFRL=0,0;MMQ=60,29;MPOS=142;POPAF=7.3;TLOD=8.82;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA||||||||||rs1302849085|565|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.1412A>G||1412|||||rs1302849085||1||SNV|HGNC|HGNC:52285|YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.825:3:0,0:0,2:0,3:0,0,2,1 -chr2 130230924 . A G . map_qual;weak_evidence AS_FilterStatus=weak_evidence,map_qual;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=2;GERMQ=41;MBQ=0,33;MFRL=0,0;MMQ=60,21;MPOS=32;POPAF=7.3;TLOD=4.85;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA||||||||||rs879197494|431|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.1546A>G||1546|||||rs879197494||1||SNV|HGNC|HGNC:52285|YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr2 130230924 . A G . map_qual;strand_bias;weak_evidence AS_FilterStatus=weak_evidence,map_qual,strand_bias;AS_SB_TABLE=0%2C0|3%2C0;DP=3;ECNT=2;GERMQ=45;MBQ=0,32;MFRL=0,0;MMQ=60,21;MPOS=37;POPAF=7.3;TLOD=8.02;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA||||||||||rs879197494|431|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.1546A>G||1546|||||rs879197494||1||SNV|HGNC|HGNC:52285|YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.8:3:0,0:0,3:0,3:0,0,3,0 -chr2 130231008 . C T . map_qual;weak_evidence AS_FilterStatus=weak_evidence,map_qual;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=2;GERMQ=41;MBQ=0,33;MFRL=0,0;MMQ=60,21;MPOS=116;POPAF=7.3;TLOD=4.85;SRC=custom;GRP=custom;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA||||||||||rs1486947001|347|1||SNV|||YES||||||||||||||||||||||||||||||||4.598e-05|4.822e-05|0|6.541e-05|0|0.0003849|0|0|1.47e-05|0.000478|0|0.000478|gnomADg_OTH|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.1630C>T||1630|||||rs1486947001||1||SNV|HGNC|HGNC:52285|YES||||||||||||||||||||||||||||||||4.598e-05|4.822e-05|0|6.541e-05|0|0.0003849|0|0|1.47e-05|0.000478|0|0.000478|gnomADg_OTH||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr2 130231008 . C T . map_qual;strand_bias;weak_evidence AS_FilterStatus=weak_evidence,map_qual,strand_bias;AS_SB_TABLE=0%2C0|3%2C0;DP=3;ECNT=2;GERMQ=45;MBQ=0,25;MFRL=0,0;MMQ=60,21;MPOS=121;POPAF=7.3;TLOD=5.81;SRC=custom;GRP=custom;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA||||||||||rs1486947001|347|1||SNV|||YES||||||||||||||||||||||||||||||||4.598e-05|4.822e-05|0|6.541e-05|0|0.0003849|0|0|1.47e-05|0.000478|0|0.000478|gnomADg_OTH|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.1630C>T||1630|||||rs1486947001||1||SNV|HGNC|HGNC:52285|YES||||||||||||||||||||||||||||||||4.598e-05|4.822e-05|0|6.541e-05|0|0.0003849|0|0|1.47e-05|0.000478|0|0.000478|gnomADg_OTH||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.796:3:0,0:0,2:0,3:0,0,3,0 -chr2 130231176 . C G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C5;DP=10;ECNT=6;GERMQ=59;MBQ=0,32;MFRL=0,0;MMQ=60,33;MPOS=6;POPAF=7.3;TLOD=26.98;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA|||||||||||179|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.1798C>G||1798|||||||1||SNV|HGNC|HGNC:52285|YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.864:8:0,2:0,3:0,5:0,0,3,5 -chr2 130231176 . C G . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|2%2C3;DP=5;ECNT=5;GERMQ=51;MBQ=0,33;MFRL=0,0;MMQ=60,29;MPOS=15;POPAF=7.3;TLOD=14.57;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA|||||||||||179|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.1798C>G||1798|||||||1||SNV|HGNC|HGNC:52285|YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.8:5:0,1:0,2:0,3:0,0,2,3 -chr2 130231189 . T G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|5%2C7;DP=13;ECNT=6;GERMQ=70;MBQ=0,32;MFRL=0,0;MMQ=60,37;MPOS=15;POPAF=7.3;TLOD=41.57;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA|||||||||||166|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.1811T>G||1811|||||||1||SNV|HGNC|HGNC:52285|YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,12:0.893:12:0,2:0,5:0,7:0,0,5,7 -chr2 130231189 . T G . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|2%2C3;DP=8;ECNT=5;GERMQ=51;MBQ=0,32;MFRL=0,0;MMQ=60,29;MPOS=28;POPAF=7.3;TLOD=14.8;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA|||||||||||166|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.1811T>G||1811|||||||1||SNV|HGNC|HGNC:52285|YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.819:5:0,1:0,2:0,3:0,0,2,3 -chr2 130231202 . C A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|6%2C10;DP=16;ECNT=6;GERMQ=82;MBQ=0,32;MFRL=0,0;MMQ=60,37;MPOS=26;POPAF=7.3;TLOD=56.65;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA|||||||||||153|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.1824C>A||1824|||||||1||SNV|HGNC|HGNC:52285|YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,16:0.917:16:0,4:0,6:0,10:0,0,6,10 -chr2 130231202 . C A . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|3%2C5;DP=8;ECNT=5;GERMQ=60;MBQ=0,32;MFRL=0,0;MMQ=60,25;MPOS=32;POPAF=7.3;TLOD=23.27;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA|||||||||||153|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.1824C>A||1824|||||||1||SNV|HGNC|HGNC:52285|YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.857:8:0,1:0,3:0,5:0,0,3,5 -chr2 130231206 . C T . clustered_events;map_qual;strand_bias;weak_evidence AS_FilterStatus=weak_evidence,map_qual,strand_bias;AS_SB_TABLE=5%2C8|1%2C2;DP=16;ECNT=6;GERMQ=34;MBQ=33,31;MFRL=0,0;MMQ=40,29;MPOS=31;POPAF=7.3;TLOD=7.54;SRC=custom;GRP=custom;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA||||||||||rs1691058392|149|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.1828C>T||1828|||||rs1691058392||1||SNV|HGNC|HGNC:52285|YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:13,3:0.25:16:3,1:4,1:8,2:5,8,1,2 -chr2 130231240 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|6%2C10;DP=16;ECNT=6;GERMQ=82;MBQ=0,33;MFRL=0,0;MMQ=60,37;MPOS=64;POPAF=7.3;TLOD=54.65;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA||||||||||rs1817095|115|1||SNV|||YES||||||||||||||||||||||||||||||||1.315e-05|2.415e-05|0|6.551e-05|0|0|0|0|0|0|0|6.551e-05|gnomADg_AMR|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.1862A>G||1862|||||rs1817095||1||SNV|HGNC|HGNC:52285|YES||||||||||||||||||||||||||||||||1.315e-05|2.415e-05|0|6.551e-05|0|0|0|0|0|0|0|6.551e-05|gnomADg_AMR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,16:0.917:16:0,4:0,6:0,10:0,0,6,10 -chr2 130231240 . A G . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|4%2C5;DP=9;ECNT=5;GERMQ=63;MBQ=0,34;MFRL=0,0;MMQ=60,21;MPOS=70;POPAF=7.3;TLOD=26.23;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA||||||||||rs1817095|115|1||SNV|||YES||||||||||||||||||||||||||||||||1.315e-05|2.415e-05|0|6.551e-05|0|0|0|0|0|0|0|6.551e-05|gnomADg_AMR|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.1862A>G||1862|||||rs1817095||1||SNV|HGNC|HGNC:52285|YES||||||||||||||||||||||||||||||||1.315e-05|2.415e-05|0|6.551e-05|0|0|0|0|0|0|0|6.551e-05|gnomADg_AMR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,9:0.875:9:0,2:0,4:0,6:0,0,4,5 -chr2 130231320 . G A . clustered_events;strand_bias;weak_evidence AS_FilterStatus=weak_evidence,strand_bias;AS_SB_TABLE=0%2C0|1%2C3;DP=7;ECNT=6;GERMQ=47;MBQ=0,32;MFRL=0,0;MMQ=60,40;MPOS=125;POPAF=7.3;TLOD=11.62;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA||||||||||rs879193673|35|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.1942G>A||1942|||||rs879193673||1||SNV|HGNC|HGNC:52285|YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.819:4:0,2:0,1:0,3:0,0,1,3 -chr2 130231320 . G A . clustered_events;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=0%2C0|0%2C0;DP=4;ECNT=5;GERMQ=43;MBQ=0,34;MFRL=0,0;MMQ=60,40;MPOS=113;POPAF=7.3;TLOD=5.72;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA||||||||||rs879193673|35|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.1942G>A||1942|||||rs879193673||1||SNV|HGNC|HGNC:52285|YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.764:2:0,1:0,1:0,2:0,0,1,1 -chr2 131442793 . T C . clustered_events;haplotype;strand_bias AS_FilterStatus=strand_bias;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=6;GERMQ=44;MBQ=0,34;MFRL=0,0;MMQ=60,49;MPOS=78;POPAF=7.3;TLOD=13.02;SRC=custom;GRP=custom;CSQ=C|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.1795A>G||1795|||||||-1||SNV|HGNC|HGNC:52286|YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.75:3:0,1:0,1:0,2:0|1:131442793_T_C:131442793:0,0,1,2 -chr2 131442793 . T C . clustered_events;haplotype;map_qual;strand_bias AS_FilterStatus=map_qual,strand_bias;AS_SB_TABLE=0%2C0|2%2C1;DP=3;ECNT=6;GERMQ=45;MBQ=0,33;MFRL=0,0;MMQ=60,23;MPOS=63;POPAF=7.3;TLOD=13.02;SRC=custom;GRP=custom;CSQ=C|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.1795A>G||1795|||||||-1||SNV|HGNC|HGNC:52286|YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.75:3:0,0:0,2:0,2:0|1:131442793_T_C:131442793:0,0,2,1 -chr2 131442797 . C G . clustered_events;haplotype;strand_bias AS_FilterStatus=strand_bias;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=6;GERMQ=44;MBQ=0,34;MFRL=0,0;MMQ=60,49;MPOS=74;POPAF=7.3;TLOD=13.02;SRC=custom;GRP=custom;CSQ=G|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.1791G>C||1791|||||||-1||SNV|HGNC|HGNC:52286|YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.75:3:0,1:0,1:0,2:0|1:131442793_T_C:131442793:0,0,1,2 -chr2 131442797 . C G . clustered_events;haplotype;map_qual;strand_bias AS_FilterStatus=map_qual,strand_bias;AS_SB_TABLE=0%2C0|2%2C1;DP=3;ECNT=6;GERMQ=45;MBQ=0,32;MFRL=0,0;MMQ=60,23;MPOS=59;POPAF=7.3;TLOD=13.02;SRC=custom;GRP=custom;CSQ=G|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.1791G>C||1791|||||||-1||SNV|HGNC|HGNC:52286|YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.75:3:0,0:0,2:0,2:0|1:131442793_T_C:131442793:0,0,2,1 -chr2 131442810 . C T . clustered_events;haplotype;strand_bias AS_FilterStatus=strand_bias;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=6;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,49;MPOS=61;POPAF=7.3;TLOD=13.02;SRC=custom;GRP=custom;CSQ=T|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.1778G>A||1778|||||rs537639562||-1||SNV|HGNC|HGNC:52286|YES|||||||||||||||||0.0004|0|0|0|0.002|0|0.0009507|0|0.000117|0.0006011|0|0.001927|0.001595|0.0009924|3.298e-05|0.001275|9.653e-05|0|0.0001962|0.001729|0|0.001224|0|0.002454|0.0004785|0|0.002454|gnomADg_NFE||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.75:3:0,1:0,1:0,2:0|1:131442793_T_C:131442793:0,0,1,2 -chr2 131442810 . C T . clustered_events;haplotype;map_qual;strand_bias AS_FilterStatus=map_qual,strand_bias;AS_SB_TABLE=0%2C0|2%2C1;DP=3;ECNT=6;GERMQ=45;MBQ=0,33;MFRL=0,0;MMQ=60,23;MPOS=46;POPAF=7.3;TLOD=13.02;SRC=custom;GRP=custom;CSQ=T|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.1778G>A||1778|||||rs537639562||-1||SNV|HGNC|HGNC:52286|YES|||||||||||||||||0.0004|0|0|0|0.002|0|0.0009507|0|0.000117|0.0006011|0|0.001927|0.001595|0.0009924|3.298e-05|0.001275|9.653e-05|0|0.0001962|0.001729|0|0.001224|0|0.002454|0.0004785|0|0.002454|gnomADg_NFE||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.75:3:0,0:0,2:0,2:0|1:131442793_T_C:131442793:0,0,2,1 -chr2 131442829 . C T . clustered_events;haplotype;strand_bias AS_FilterStatus=strand_bias;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=6;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,49;MPOS=42;POPAF=7.3;TLOD=13.02;SRC=custom;GRP=custom;CSQ=T|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.1759G>A||1759|||||||-1||SNV|HGNC|HGNC:52286|YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.75:3:0,1:0,1:0,2:0|1:131442793_T_C:131442793:0,0,1,2 -chr2 131442829 . C T . clustered_events;haplotype;map_qual;strand_bias AS_FilterStatus=map_qual,strand_bias;AS_SB_TABLE=0%2C0|2%2C1;DP=3;ECNT=6;GERMQ=45;MBQ=0,33;MFRL=0,0;MMQ=60,23;MPOS=27;POPAF=7.3;TLOD=13.02;SRC=custom;GRP=custom;CSQ=T|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.1759G>A||1759|||||||-1||SNV|HGNC|HGNC:52286|YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.75:3:0,0:0,2:0,2:0|1:131442793_T_C:131442793:0,0,2,1 -chr2 131442842 . T C . clustered_events;haplotype;strand_bias AS_FilterStatus=strand_bias;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=6;GERMQ=44;MBQ=0,34;MFRL=0,0;MMQ=60,49;MPOS=29;POPAF=7.3;TLOD=13.02;SRC=custom;GRP=custom;CSQ=C|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.1746A>G||1746|||||rs1462792595||-1||SNV|HGNC|HGNC:52286|YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.75:3:0,1:0,1:0,2:0|1:131442793_T_C:131442793:0,0,1,2 -chr2 131442842 . T C . clustered_events;haplotype;map_qual;strand_bias AS_FilterStatus=map_qual,strand_bias;AS_SB_TABLE=0%2C0|2%2C1;DP=3;ECNT=6;GERMQ=45;MBQ=0,33;MFRL=0,0;MMQ=60,23;MPOS=14;POPAF=7.3;TLOD=13.02;SRC=custom;GRP=custom;CSQ=C|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.1746A>G||1746|||||rs1462792595||-1||SNV|HGNC|HGNC:52286|YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.75:3:0,0:0,2:0,2:0|1:131442793_T_C:131442793:0,0,2,1 -chr2 131442846 . A G . clustered_events;haplotype;strand_bias AS_FilterStatus=strand_bias;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=6;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,49;MPOS=25;POPAF=7.3;TLOD=13.02;SRC=custom;GRP=custom;CSQ=G|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.1742T>C||1742|||||rs1195529134||-1||SNV|HGNC|HGNC:52286|YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.75:3:0,1:0,1:0,2:0|1:131442793_T_C:131442793:0,0,1,2 -chr2 131442846 . A G . clustered_events;haplotype;map_qual;strand_bias AS_FilterStatus=map_qual,strand_bias;AS_SB_TABLE=0%2C0|2%2C1;DP=3;ECNT=6;GERMQ=45;MBQ=0,32;MFRL=0,0;MMQ=60,23;MPOS=10;POPAF=7.3;TLOD=13.02;SRC=custom;GRP=custom;CSQ=G|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.1742T>C||1742|||||rs1195529134||-1||SNV|HGNC|HGNC:52286|YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.75:3:0,0:0,2:0,2:0|1:131442793_T_C:131442793:0,0,2,1 -chr2 131443009 . A G . clustered_events;map_qual;strand_bias;weak_evidence AS_FilterStatus=weak_evidence,map_qual,strand_bias;AS_SB_TABLE=0%2C0|3%2C1;DP=5;ECNT=9;GERMQ=47;MBQ=0,32;MFRL=0,0;MMQ=60,28;MPOS=125;POPAF=7.3;TLOD=12.41;SRC=custom;GRP=custom;CSQ=G|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.1579T>C||1579|||||rs528066176||-1||SNV|HGNC|HGNC:52286|YES|||||||||||||||||0.0010|0.0038|0|0|0|0|0.0002785|0.003818|5.785e-05|0|0|0|8.798e-06|0.000163|0.0001307|0.001058|0.003813|0|0.0001309|0|0|0|0|0|0.0004776|0|0.003818|gnomADe_AFR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.833:4:0,1:0,3:0,4:0,0,3,1 -chr2 131443009 . A G . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|3%2C3;DP=7;ECNT=9;GERMQ=54;MBQ=0,33;MFRL=0,0;MMQ=60,28;MPOS=128;POPAF=7.3;TLOD=18.28;SRC=custom;GRP=custom;CSQ=G|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.1579T>C||1579|||||rs528066176||-1||SNV|HGNC|HGNC:52286|YES|||||||||||||||||0.0010|0.0038|0|0|0|0|0.0002785|0.003818|5.785e-05|0|0|0|8.798e-06|0.000163|0.0001307|0.001058|0.003813|0|0.0001309|0|0|0|0|0|0.0004776|0|0.003818|gnomADe_AFR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.857:6:0,2:0,3:0,5:0,0,3,3 -chr2 131443024 . A G . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|3%2C3;DP=9;ECNT=9;GERMQ=53;MBQ=0,34;MFRL=0,0;MMQ=60,28;MPOS=110;POPAF=7.3;TLOD=19.15;SRC=custom;GRP=custom;CSQ=G|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.1564T>C||1564|||||rs775264264||-1||SNV|HGNC|HGNC:52286|YES|||||||||||||||||||||||1.194e-05|0|0|0|0|0|0|0|9.801e-05|6.571e-06|0|0|0|0|0|0|0|1.47e-05|0|0|9.801e-05|gnomADe_SAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.864:6:0,2:0,3:0,5:0,0,3,3 -chr2 131443024 . A G . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|3%2C4;DP=8;ECNT=9;GERMQ=57;MBQ=0,32;MFRL=0,0;MMQ=60,28;MPOS=114;POPAF=7.3;TLOD=21.83;SRC=custom;GRP=custom;CSQ=G|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.1564T>C||1564|||||rs775264264||-1||SNV|HGNC|HGNC:52286|YES|||||||||||||||||||||||1.194e-05|0|0|0|0|0|0|0|9.801e-05|6.571e-06|0|0|0|0|0|0|0|1.47e-05|0|0|9.801e-05|gnomADe_SAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,7:0.863:7:0,2:0,3:0,5:0,0,3,4 -chr2 131443048 . G A . clustered_events;strand_bias;weak_evidence AS_FilterStatus=weak_evidence,strand_bias;AS_SB_TABLE=2%2C5|1%2C1;DP=9;ECNT=9;GERMQ=27;MBQ=33,33;MFRL=0,0;MMQ=29,38;MPOS=106;POPAF=7.3;TLOD=5.33;SRC=custom;GRP=custom;CSQ=A|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.1540C>T||1540|||||rs1281084689||-1||SNV|HGNC|HGNC:52286|YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,2:0.25:9:3,0:2,1:5,1:2,5,1,1 -chr2 131443048 . G A . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=1%2C2|3%2C4;DP=10;ECNT=9;GERMQ=28;MBQ=34,33;MFRL=0,0;MMQ=26,28;MPOS=106;POPAF=7.3;TLOD=21.69;SRC=custom;GRP=custom;CSQ=A|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.1540C>T||1540|||||rs1281084689||-1||SNV|HGNC|HGNC:52286|YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,7:0.556:10:2,1:1,3:3,4:1,2,3,4 -chr2 131443052 . G T . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|3%2C6;DP=9;ECNT=9;GERMQ=62;MBQ=0,33;MFRL=0,0;MMQ=60,29;MPOS=105;POPAF=7.3;TLOD=32.74;SRC=custom;GRP=custom;CSQ=T|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.1536C>A||1536|||||rs1010317821||-1||SNV|HGNC|HGNC:52286|YES|||||||||||||||||||||||3.982e-06|0|0|0|0|0|8.808e-06|0|0||||||||||||8.808e-06|gnomADe_NFE||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,9:0.875:9:0,3:0,3:0,6:0,0,3,6 -chr2 131443052 . G T . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|4%2C6;DP=10;ECNT=9;GERMQ=66;MBQ=0,33;MFRL=0,0;MMQ=60,28;MPOS=97;POPAF=7.3;TLOD=39.72;SRC=custom;GRP=custom;CSQ=T|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.1536C>A||1536|||||rs1010317821||-1||SNV|HGNC|HGNC:52286|YES|||||||||||||||||||||||3.982e-06|0|0|0|0|0|8.808e-06|0|0||||||||||||8.808e-06|gnomADe_NFE||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,10:0.889:10:0,3:0,4:0,7:0,0,4,6 -chr2 131443065 . A C . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|3%2C6;DP=9;ECNT=9;GERMQ=62;MBQ=0,32;MFRL=0,0;MMQ=60,29;MPOS=92;POPAF=7.3;TLOD=30.67;SRC=custom;GRP=custom;CSQ=C|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.1523T>G||1523|||||rs766966247||-1||SNV|HGNC|HGNC:52286|YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,9:0.875:9:0,3:0,3:0,6:0,0,3,6 -chr2 131443065 . A C . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|4%2C6;DP=10;ECNT=9;GERMQ=66;MBQ=0,32;MFRL=0,0;MMQ=60,28;MPOS=84;POPAF=7.3;TLOD=32.36;SRC=custom;GRP=custom;CSQ=C|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.1523T>G||1523|||||rs766966247||-1||SNV|HGNC|HGNC:52286|YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,10:0.889:10:0,3:0,4:0,7:0,0,4,6 -chr2 131443078 . G C . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|3%2C6;DP=9;ECNT=9;GERMQ=62;MBQ=0,35;MFRL=0,0;MMQ=60,29;MPOS=79;POPAF=7.3;TLOD=31.1;SRC=custom;GRP=custom;CSQ=C|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.1510C>G||1510|||||rs1410372071||-1||SNV|HGNC|HGNC:52286|YES||||||||||||||||||||||||||||||||6.571e-06|0|0|0|0|0|0|0|1.47e-05|0|0|1.47e-05|gnomADg_NFE||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,9:0.875:9:0,3:0,3:0,6:0,0,3,6 -chr2 131443078 . G C . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|4%2C6;DP=10;ECNT=9;GERMQ=66;MBQ=0,34;MFRL=0,0;MMQ=60,28;MPOS=71;POPAF=7.3;TLOD=32.26;SRC=custom;GRP=custom;CSQ=C|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.1510C>G||1510|||||rs1410372071||-1||SNV|HGNC|HGNC:52286|YES||||||||||||||||||||||||||||||||6.571e-06|0|0|0|0|0|0|0|1.47e-05|0|0|1.47e-05|gnomADg_NFE||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,10:0.889:10:0,3:0,4:0,7:0,0,4,6 -chr2 131443100 . G C . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|3%2C6;DP=9;ECNT=9;GERMQ=62;MBQ=0,34;MFRL=0,0;MMQ=60,29;MPOS=57;POPAF=7.3;TLOD=31.07;SRC=custom;GRP=custom;CSQ=C|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.1488C>G||1488|||||rs1160164612||-1||SNV|HGNC|HGNC:52286|YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,9:0.875:9:0,3:0,3:0,6:0,0,3,6 -chr2 131443100 . G C . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|4%2C6;DP=10;ECNT=9;GERMQ=66;MBQ=0,34;MFRL=0,0;MMQ=60,28;MPOS=49;POPAF=7.3;TLOD=32.66;SRC=custom;GRP=custom;CSQ=C|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.1488C>G||1488|||||rs1160164612||-1||SNV|HGNC|HGNC:52286|YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,10:0.889:10:0,3:0,4:0,7:0,0,4,6 -chr2 131443144 . G A . clustered_events;haplotype;strand_bias AS_FilterStatus=strand_bias;AS_SB_TABLE=0%2C0|0%2C5;DP=5;ECNT=9;GERMQ=50;MBQ=0,32;MFRL=0,0;MMQ=60,32;MPOS=28;POPAF=7.3;TLOD=21.72;SRC=custom;GRP=custom;CSQ=A|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.1444C>T||1444|||||rs1469464006||-1||SNV|HGNC|HGNC:52286|YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,5:0.857:5:0,2:0,0:0,5:0|1:131443144_G_A:131443144:0,0,0,5 -chr2 131443144 . G A . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C3;DP=6;ECNT=9;GERMQ=51;MBQ=0,33;MFRL=0,0;MMQ=60,31;MPOS=33;POPAF=7.3;TLOD=21.86;SRC=custom;GRP=custom;CSQ=A|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.1444C>T||1444|||||rs1469464006||-1||SNV|HGNC|HGNC:52286|YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,5:0.811:5:0,1:0,2:0,3:0|1:131443144_G_A:131443144:0,0,2,3 -chr2 131443146 . T G . clustered_events;haplotype;strand_bias AS_FilterStatus=strand_bias;AS_SB_TABLE=0%2C0|0%2C5;DP=5;ECNT=9;GERMQ=50;MBQ=0,35;MFRL=0,0;MMQ=60,32;MPOS=26;POPAF=7.3;TLOD=21.72;SRC=custom;GRP=custom;CSQ=G|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.1442A>C||1442|||||rs1171422307||-1||SNV|HGNC|HGNC:52286|YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,5:0.857:5:0,2:0,0:0,5:0|1:131443144_G_A:131443144:0,0,0,5 -chr2 131443146 . T G . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C3;DP=6;ECNT=9;GERMQ=51;MBQ=0,35;MFRL=0,0;MMQ=60,31;MPOS=31;POPAF=7.3;TLOD=21.86;SRC=custom;GRP=custom;CSQ=G|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.1442A>C||1442|||||rs1171422307||-1||SNV|HGNC|HGNC:52286|YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,5:0.811:5:0,1:0,2:0,3:0|1:131443144_G_A:131443144:0,0,2,3 -chr2 131443797 . C G . clustered_events;haplotype;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=4;GERMQ=41;MBQ=0,33;MFRL=0,0;MMQ=60,47;MPOS=132;POPAF=7.3;TLOD=8.7;SRC=custom;GRP=custom;CSQ=G|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.791G>C||791|||||rs113583952||-1||SNV|HGNC|HGNC:52286|YES|||||||||||||||||||||||1.593e-05|6.19e-05|2.894e-05|0|0|0|8.802e-06|0|3.266e-05|1.317e-05|2.422e-05|0|0|0|0|0|0|1.47e-05|0|0|6.19e-05|gnomADe_AFR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,2:0.667:2:0,0:0,1:0,1:0|1:131443797_C_G:131443797:0,0,1,1 -chr2 131443797 . C G . clustered_events;haplotype;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=4;GERMQ=43;MBQ=0,33;MFRL=0,0;MMQ=60,58;MPOS=137;POPAF=7.3;TLOD=8.7;SRC=custom;GRP=custom;CSQ=G|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.791G>C||791|||||rs113583952||-1||SNV|HGNC|HGNC:52286|YES|||||||||||||||||||||||1.593e-05|6.19e-05|2.894e-05|0|0|0|8.802e-06|0|3.266e-05|1.317e-05|2.422e-05|0|0|0|0|0|0|1.47e-05|0|0|6.19e-05|gnomADe_AFR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,2:0.667:2:0,0:0,1:0,1:0|1:131443797_C_G:131443797:0,0,1,1 -chr2 131443801 . G A . clustered_events;haplotype;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=4;GERMQ=41;MBQ=0,33;MFRL=0,0;MMQ=60,47;MPOS=128;POPAF=7.3;TLOD=8.7;SRC=custom;GRP=custom;CSQ=A|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.787C>T||787|||||rs1704553871||-1||SNV|HGNC|HGNC:52286|YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,2:0.667:2:0,0:0,1:0,1:0|1:131443797_C_G:131443797:0,0,1,1 -chr2 131443801 . G A . clustered_events;haplotype;strand_bias;weak_evidence AS_FilterStatus=weak_evidence,strand_bias;AS_SB_TABLE=0%2C0|2%2C1;DP=3;ECNT=4;GERMQ=45;MBQ=0,23;MFRL=0,0;MMQ=60,58;MPOS=133;POPAF=7.3;TLOD=12.1;SRC=custom;GRP=custom;CSQ=A|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.787C>T||787|||||rs1704553871||-1||SNV|HGNC|HGNC:52286|YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.75:3:0,0:0,0:0,2:0|1:131443797_C_G:131443797:0,0,2,1 -chr2 131443807 . G A . clustered_events;haplotype;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=0%2C0|0%2C0;DP=4;ECNT=4;GERMQ=41;MBQ=0,33;MFRL=0,0;MMQ=60,47;MPOS=122;POPAF=7.3;TLOD=8.63;SRC=custom;GRP=custom;CSQ=A|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.781C>T||781|||||rs750463315||-1||SNV|HGNC|HGNC:52286|YES|||||||||||||||||||||||4.377e-05|0|0.0002893|0|0|0|8.799e-06|0|0|7.89e-05|2.414e-05|0|0.0005895|0|0|0|0|2.94e-05|0|0|0.0005895|gnomADg_AMR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,2:0.684:2:0,0:0,1:0,1:0|1:131443797_C_G:131443797:0,0,1,1 -chr2 131443807 . G A . clustered_events;haplotype;strand_bias;weak_evidence AS_FilterStatus=weak_evidence,strand_bias;AS_SB_TABLE=0%2C0|2%2C1;DP=3;ECNT=4;GERMQ=45;MBQ=0,31;MFRL=0,0;MMQ=60,58;MPOS=127;POPAF=7.3;TLOD=12.1;SRC=custom;GRP=custom;CSQ=A|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.781C>T||781|||||rs750463315||-1||SNV|HGNC|HGNC:52286|YES|||||||||||||||||||||||4.377e-05|0|0.0002893|0|0|0|8.799e-06|0|0|7.89e-05|2.414e-05|0|0.0005895|0|0|0|0|2.94e-05|0|0|0.0005895|gnomADg_AMR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.75:3:0,0:0,2:0,2:0|1:131443797_C_G:131443797:0,0,2,1 -chr2 131443869 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C3;DP=7;ECNT=4;GERMQ=56;MBQ=0,32;MFRL=0,0;MMQ=60,47;MPOS=60;POPAF=7.3;TLOD=21.83;SRC=custom;GRP=custom;CSQ=G|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.719T>C||719|||||rs1220853160||-1||SNV|HGNC|HGNC:52286|YES||||||||||||||||||||||||||||||||6.575e-06|0|0|0|0|0|0|0|1.47e-05|0|0|1.47e-05|gnomADg_NFE||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,7:0.833:7:0,0:0,4:0,4:0,0,4,3 -chr2 131443869 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C2;DP=6;ECNT=4;GERMQ=54;MBQ=0,32;MFRL=0,0;MMQ=60,40;MPOS=92;POPAF=7.3;TLOD=17.75;SRC=custom;GRP=custom;CSQ=G|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.719T>C||719|||||rs1220853160||-1||SNV|HGNC|HGNC:52286|YES||||||||||||||||||||||||||||||||6.575e-06|0|0|0|0|0|0|0|1.47e-05|0|0|1.47e-05|gnomADg_NFE||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.833:6:0,0:0,4:0,4:0,0,4,2 -chr2 131443961 . G A . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|9%2C6;DP=15;ECNT=4;GERMQ=79;MBQ=0,33;MFRL=0,0;MMQ=60,34;MPOS=76;POPAF=7.3;TLOD=66.5;SRC=custom;GRP=custom;CSQ=A|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.627C>T||627|||||rs1354528412||-1||SNV|HGNC|HGNC:52286|YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,15:0.909:15:0,0:0,9:0,9:0|1:131443961_G_A:131443961:0,0,9,6 -chr2 131443961 . G A . clustered_events;haplotype;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|4%2C3;DP=7;ECNT=6;GERMQ=57;MBQ=0,33;MFRL=0,0;MMQ=60,25;MPOS=104;POPAF=7.3;TLOD=30.8;SRC=custom;GRP=custom;CSQ=A|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.627C>T||627|||||rs1354528412||-1||SNV|HGNC|HGNC:52286|YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,7:0.833:7:0,0:0,4:0,4:0|1:131443961_G_A:131443961:0,0,4,3 -chr2 131443973 . T A . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|9%2C6;DP=15;ECNT=4;GERMQ=79;MBQ=0,33;MFRL=0,0;MMQ=60,34;MPOS=64;POPAF=7.3;TLOD=66.5;SRC=custom;GRP=custom;CSQ=A|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.615A>T||615|||||rs781246544||-1||SNV|HGNC|HGNC:52286|YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,15:0.909:15:0,0:0,9:0,9:0|1:131443961_G_A:131443961:0,0,9,6 -chr2 131443973 . T A . clustered_events;haplotype;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|4%2C3;DP=7;ECNT=6;GERMQ=57;MBQ=0,33;MFRL=0,0;MMQ=60,25;MPOS=92;POPAF=7.3;TLOD=30.8;SRC=custom;GRP=custom;CSQ=A|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.615A>T||615|||||rs781246544||-1||SNV|HGNC|HGNC:52286|YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,7:0.833:7:0,0:0,4:0,4:0|1:131443961_G_A:131443961:0,0,4,3 -chr2 131444000 . A G . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|7%2C5;DP=12;ECNT=4;GERMQ=70;MBQ=0,34;MFRL=0,0;MMQ=60,38;MPOS=51;POPAF=7.3;TLOD=53.1;SRC=custom;GRP=custom;CSQ=G|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.588T>C||588|||||rs113464159||-1||SNV|HGNC|HGNC:52286|YES|||||||||||||||||0.0351|0.121|0.0159|0|0.005|0|0.003535|0.04637|0.00193|0.002241|0|0|0.0006525|0.002476|6.539e-05|0.0002459|0.000876|0|6.591e-05|0|0|0|0|0|0.0004812|0|0.121|AFR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,12:0.889:12:0,0:0,7:0,7:0|1:131444000_A_G:131444000:0,0,7,5 -chr2 131444000 . A G . clustered_events;haplotype;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=6;GERMQ=48;MBQ=0,33;MFRL=0,0;MMQ=60,28;MPOS=72;POPAF=7.3;TLOD=17.52;SRC=custom;GRP=custom;CSQ=G|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.588T>C||588|||||rs113464159||-1||SNV|HGNC|HGNC:52286|YES|||||||||||||||||0.0351|0.121|0.0159|0|0.005|0|0.003535|0.04637|0.00193|0.002241|0|0|0.0006525|0.002476|6.539e-05|0.0002459|0.000876|0|6.591e-05|0|0|0|0|0|0.0004812|0|0.121|AFR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,4:0.75:4:0,0:0,2:0,2:0|1:131444000_A_G:131444000:0,0,2,2 -chr2 131444009 . A G . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|7%2C5;DP=12;ECNT=4;GERMQ=70;MBQ=0,34;MFRL=0,0;MMQ=60,38;MPOS=42;POPAF=7.3;TLOD=53.1;SRC=custom;GRP=custom;CSQ=G|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.579T>C||579|||||rs1806886||-1||SNV|HGNC|HGNC:52286|YES|||||||||||||||||0.4139|0.2958|0.5346|0.7589|0.2366|0.3149|0.3312|0.2259|0.6252|0.3169|0.7544|0.2718|0.2084|0.3059|0.3055|0.2577|0.1924|0.2363|0.4581|0.3132|0.7527|0.2776|0.3089|0.2027|0.2989|0.317|0.7589|EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,12:0.889:12:0,0:0,6:0,7:0|1:131444000_A_G:131444000:0,0,7,5 -chr2 131444009 . A G . clustered_events;haplotype;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=6;GERMQ=48;MBQ=0,35;MFRL=0,0;MMQ=60,28;MPOS=63;POPAF=7.3;TLOD=17.52;SRC=custom;GRP=custom;CSQ=G|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.579T>C||579|||||rs1806886||-1||SNV|HGNC|HGNC:52286|YES|||||||||||||||||0.4139|0.2958|0.5346|0.7589|0.2366|0.3149|0.3312|0.2259|0.6252|0.3169|0.7544|0.2718|0.2084|0.3059|0.3055|0.2577|0.1924|0.2363|0.4581|0.3132|0.7527|0.2776|0.3089|0.2027|0.2989|0.317|0.7589|EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,4:0.75:4:0,0:0,2:0,2:0|1:131444000_A_G:131444000:0,0,2,2 -chr2 131444045 . T C . clustered_events;haplotype;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=6;GERMQ=48;MBQ=0,34;MFRL=0,0;MMQ=60,28;MPOS=27;POPAF=7.3;TLOD=17.52;SRC=custom;GRP=custom;CSQ=C|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.543A>G||543|||||rs111251004||-1||SNV|HGNC|HGNC:52286|YES|||||||||||||||||||||||0.001096|0.01483|0.0006402|0.0006025|0|0|0.0001678|0.0009885|0|0.0001325|0.0004453|0|0.0001315|0|0|0|0|0|0|0|0.01483|gnomADe_AFR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,4:0.75:4:0,0:0,2:0,2:0|1:131444045_T_C:131444045:0,0,2,2 -chr2 131444062 . A G . clustered_events;haplotype;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=6;GERMQ=48;MBQ=0,32;MFRL=0,0;MMQ=60,28;MPOS=10;POPAF=7.3;TLOD=17.52;SRC=custom;GRP=custom;CSQ=G|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.526T>C||526|||||||-1||SNV|HGNC|HGNC:52286|YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,4:0.75:4:0,0:0,2:0,2:0|1:131444045_T_C:131444045:0,0,2,2 -chr2 131444195 . G A . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C4;DP=7;ECNT=7;GERMQ=57;MBQ=0,33;MFRL=0,0;MMQ=60,36;MPOS=127;POPAF=7.3;TLOD=29.13;SRC=custom;GRP=custom;CSQ=A|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.393C>T||393|||||rs2105250762||-1||SNV|HGNC|HGNC:52286|YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,7:0.875:7:0,3:0,3:0,6:0|1:131444195_G_A:131444195:0,0,3,4 -chr2 131444205 . G A . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C4;DP=8;ECNT=7;GERMQ=57;MBQ=0,33;MFRL=0,0;MMQ=60,36;MPOS=118;POPAF=7.3;TLOD=29.11;SRC=custom;GRP=custom;CSQ=A|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.383C>T||383|||||rs111435137||-1||SNV|HGNC|HGNC:52286|YES|||||||||||||||||0.0587|0.1483|0.0461|0.004|0.0338|0.0286|0.03337|0.1432|0.02131|0.02396|0.002995|0.007403|0.03435|0.03178|0.02539|0.06134|0.1428|0.002198|0.03555|0.02307|0.004057|0.00801|0.006329|0.03633|0.04367|0.0261|0.1483|AFR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,7:0.88:7:0,3:0,3:0,6:0|1:131444195_G_A:131444195:0,0,3,4 -chr2 131444240 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C4;DP=8;ECNT=7;GERMQ=60;MBQ=0,33;MFRL=0,0;MMQ=60,36;MPOS=84;POPAF=7.3;TLOD=28.31;SRC=custom;GRP=custom;CSQ=G|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.348T>C||348|||||rs2105250792||-1||SNV|HGNC|HGNC:52286|YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.889:8:0,3:0,4:0,7:0,0,4,4 -chr2 131444261 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C4;DP=8;ECNT=7;GERMQ=60;MBQ=0,33;MFRL=0,0;MMQ=60,36;MPOS=63;POPAF=7.3;TLOD=28.41;SRC=custom;GRP=custom;CSQ=A|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.327C>T||327|||||rs1333184464||-1||SNV|HGNC|HGNC:52286|YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.889:8:0,3:0,4:0,7:0,0,4,4 -chr2 131444289 . C G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C4;DP=8;ECNT=7;GERMQ=60;MBQ=0,33;MFRL=0,0;MMQ=60,36;MPOS=35;POPAF=7.3;TLOD=26.91;SRC=custom;GRP=custom;CSQ=G|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.299G>C||299|||||rs1806887||-1||SNV|HGNC|HGNC:52286|YES|||||||||||||||||0.3876|0.2035|0.5259|0.7589|0.2326|0.3149|0.3254|0.1847|0.6198|0.3099|0.7528|0.2692|0.2061|0.3017|0.3047|0.2548|0.1857|0.2341|0.4555|0.3116|0.7518|0.2765|0.307|0.2025|0.2959|0.3173|0.7589|EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.889:8:0,3:0,4:0,7:0,0,4,4 -chr2 131444331 . T C . clustered_events;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=7;GERMQ=43;MBQ=0,33;MFRL=0,0;MMQ=60,43;MPOS=19;POPAF=7.3;TLOD=6.28;SRC=custom;GRP=custom;CSQ=C|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.257A>G||257|||||||-1||SNV|HGNC|HGNC:52286|YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.75:2:0,0:0,1:0,2:0,0,1,1 -chr2 131444492 . C T . clustered_events;haplotype;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=5;GERMQ=40;MBQ=0,33;MFRL=0,0;MMQ=60,49;MPOS=99;POPAF=7.3;TLOD=4.2;SRC=custom;GRP=custom;CSQ=T|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.96G>A||96|||||||-1||SNV|HGNC|HGNC:52286|YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,0:0,1:0,1:0|1:131444492_C_T:131444492:0,0,1,0 -chr2 131444495 . C T . clustered_events;haplotype;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=5;GERMQ=40;MBQ=0,33;MFRL=0,0;MMQ=60,49;MPOS=96;POPAF=7.3;TLOD=4.2;SRC=custom;GRP=custom;CSQ=T|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.93G>A||93|||||||-1||SNV|HGNC|HGNC:52286|YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,0:0,1:0,1:0|1:131444492_C_T:131444492:0,0,1,0 -chr2 131444513 . A C . clustered_events;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=5;GERMQ=40;MBQ=0,34;MFRL=0,0;MMQ=60,49;MPOS=78;POPAF=7.3;TLOD=3.58;SRC=custom;GRP=custom;CSQ=C|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.75T>G||75|||||||-1||SNV|HGNC|HGNC:52286|YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr2 131444551 . T G . clustered_events;haplotype;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=5;GERMQ=40;MBQ=0,34;MFRL=0,0;MMQ=60,49;MPOS=40;POPAF=7.3;TLOD=4.2;SRC=custom;GRP=custom;CSQ=G|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.37A>C||37|||||rs1326773416||-1||SNV|HGNC|HGNC:52286|YES||||||||||||||||||||||||||||||||1.326e-05|0|0|0|0|0|0|0|1.472e-05|0|0.0002114|0.0002114|gnomADg_SAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,0:0,1:0,1:0|1:131444551_T_G:131444551:0,0,1,0 -chr2 131444559 . T C . clustered_events;haplotype;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=5;GERMQ=40;MBQ=0,31;MFRL=0,0;MMQ=60,49;MPOS=32;POPAF=7.3;TLOD=4.2;SRC=custom;GRP=custom;CSQ=C|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.29A>G||29|||||||-1||SNV|HGNC|HGNC:52286|YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,0:0,1:0,1:0|1:131444551_T_G:131444551:0,0,1,0 -chr8 213370 . C G . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=3;GERMQ=1;MBQ=0,35;MFRL=0,0;MMQ=60,22;MPOS=73;POPAF=7.3;TLOD=5.05;SRC=custom;GRP=custom;CSQ=G|non_coding_transcript_exon_variant|MODIFIER|RPL23AP53|ENSG00000223508|Transcript|ENST00000521854|transcribed_processed_pseudogene|1/1||ENST00000521854.1:n.338G>C||338|||||rs7844253||-1||SNV|HGNC|HGNC:35921|YES|||||||||||||||||0.9597|0.9584|0.9712|0.999|0.9175|0.956||||||||||0.9361|0.9497|0.9468|0.9651|0.9482|0.9992|0.869|0.9295|0.9249|0.9485|0.9572|0.9992|gnomADg_EAS|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000292979|Transcript|ENST00000606975|lncRNA|3/3||ENST00000606975.1:n.552G>C||552|||||rs7844253||-1||SNV|||YES|||2||||||||||||||0.9597|0.9584|0.9712|0.999|0.9175|0.956||||||||||0.9361|0.9497|0.9468|0.9651|0.9482|0.9992|0.869|0.9295|0.9249|0.9485|0.9572|0.9992|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr8 213370 . C G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=3;GERMQ=1;MBQ=0,35;MFRL=0,0;MMQ=60,34;MPOS=71;POPAF=7.3;TLOD=13.7;SRC=custom;GRP=custom;CSQ=G|non_coding_transcript_exon_variant|MODIFIER|RPL23AP53|ENSG00000223508|Transcript|ENST00000521854|transcribed_processed_pseudogene|1/1||ENST00000521854.1:n.338G>C||338|||||rs7844253||-1||SNV|HGNC|HGNC:35921|YES|||||||||||||||||0.9597|0.9584|0.9712|0.999|0.9175|0.956||||||||||0.9361|0.9497|0.9468|0.9651|0.9482|0.9992|0.869|0.9295|0.9249|0.9485|0.9572|0.9992|gnomADg_EAS|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000292979|Transcript|ENST00000606975|lncRNA|3/3||ENST00000606975.1:n.552G>C||552|||||rs7844253||-1||SNV|||YES|||2||||||||||||||0.9597|0.9584|0.9712|0.999|0.9175|0.956||||||||||0.9361|0.9497|0.9468|0.9651|0.9482|0.9992|0.869|0.9295|0.9249|0.9485|0.9572|0.9992|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr8 213387 . C T . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=3;GERMQ=1;MBQ=0,33;MFRL=0,0;MMQ=60,22;MPOS=56;POPAF=7.3;TLOD=5.05;SRC=custom;GRP=custom;CSQ=T|non_coding_transcript_exon_variant|MODIFIER|RPL23AP53|ENSG00000223508|Transcript|ENST00000521854|transcribed_processed_pseudogene|1/1||ENST00000521854.1:n.321G>A||321|||||rs3008286||-1||SNV|HGNC|HGNC:35921|YES|||||||||||||||||0.6653|0.4697|0.7392|0.8006|0.6909|0.7117||||||||||0.7164|0.6326|0.7975|0.7853|0.7937|0.8533|0.6992|0.6655|0.7266|0.7306|0.7869|0.8533|gnomADg_EAS|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000292979|Transcript|ENST00000606975|lncRNA|3/3||ENST00000606975.1:n.535G>A||535|||||rs3008286||-1||SNV|||YES|||2||||||||||||||0.6653|0.4697|0.7392|0.8006|0.6909|0.7117||||||||||0.7164|0.6326|0.7975|0.7853|0.7937|0.8533|0.6992|0.6655|0.7266|0.7306|0.7869|0.8533|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr8 213387 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=3;GERMQ=1;MBQ=0,33;MFRL=0,0;MMQ=60,34;MPOS=54;POPAF=7.3;TLOD=13.7;SRC=custom;GRP=custom;CSQ=T|non_coding_transcript_exon_variant|MODIFIER|RPL23AP53|ENSG00000223508|Transcript|ENST00000521854|transcribed_processed_pseudogene|1/1||ENST00000521854.1:n.321G>A||321|||||rs3008286||-1||SNV|HGNC|HGNC:35921|YES|||||||||||||||||0.6653|0.4697|0.7392|0.8006|0.6909|0.7117||||||||||0.7164|0.6326|0.7975|0.7853|0.7937|0.8533|0.6992|0.6655|0.7266|0.7306|0.7869|0.8533|gnomADg_EAS|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000292979|Transcript|ENST00000606975|lncRNA|3/3||ENST00000606975.1:n.535G>A||535|||||rs3008286||-1||SNV|||YES|||2||||||||||||||0.6653|0.4697|0.7392|0.8006|0.6909|0.7117||||||||||0.7164|0.6326|0.7975|0.7853|0.7937|0.8533|0.6992|0.6655|0.7266|0.7306|0.7869|0.8533|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr8 213438 . C T . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=3;GERMQ=1;MBQ=0,32;MFRL=0,0;MMQ=60,22;MPOS=5;POPAF=7.3;TLOD=5.05;SRC=custom;GRP=custom;CSQ=T|non_coding_transcript_exon_variant|MODIFIER|RPL23AP53|ENSG00000223508|Transcript|ENST00000521854|transcribed_processed_pseudogene|1/1||ENST00000521854.1:n.270G>A||270|||||rs7844396||-1||SNV|HGNC|HGNC:35921|YES|||||||||||||||||0.9597|0.9584|0.9712|0.999|0.9175|0.956||||||||||0.936|0.9504|0.9443|0.9646|0.9473|0.9992|0.8703|0.9295|0.9243|0.9503|0.9583|0.9992|gnomADg_EAS|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000292979|Transcript|ENST00000606975|lncRNA|3/3||ENST00000606975.1:n.484G>A||484|||||rs7844396||-1||SNV|||YES|||2||||||||||||||0.9597|0.9584|0.9712|0.999|0.9175|0.956||||||||||0.936|0.9504|0.9443|0.9646|0.9473|0.9992|0.8703|0.9295|0.9243|0.9503|0.9583|0.9992|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr8 213438 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=3;GERMQ=1;MBQ=0,31;MFRL=0,0;MMQ=60,34;MPOS=3;POPAF=7.3;TLOD=10.57;SRC=custom;GRP=custom;CSQ=T|non_coding_transcript_exon_variant|MODIFIER|RPL23AP53|ENSG00000223508|Transcript|ENST00000521854|transcribed_processed_pseudogene|1/1||ENST00000521854.1:n.270G>A||270|||||rs7844396||-1||SNV|HGNC|HGNC:35921|YES|||||||||||||||||0.9597|0.9584|0.9712|0.999|0.9175|0.956||||||||||0.936|0.9504|0.9443|0.9646|0.9473|0.9992|0.8703|0.9295|0.9243|0.9503|0.9583|0.9992|gnomADg_EAS|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000292979|Transcript|ENST00000606975|lncRNA|3/3||ENST00000606975.1:n.484G>A||484|||||rs7844396||-1||SNV|||YES|||2||||||||||||||0.9597|0.9584|0.9712|0.999|0.9175|0.956||||||||||0.936|0.9504|0.9443|0.9646|0.9473|0.9992|0.8703|0.9295|0.9243|0.9503|0.9583|0.9992|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chrMT 6640 . T C . map_qual;weak_evidence AS_FilterStatus=weak_evidence,map_qual;AS_SB_TABLE=1%2C1|1%2C1;DP=4;ECNT=1;GERMQ=40;MBQ=23,33;MFRL=0,0;MMQ=30,27;MPOS=13;POPAF=7.3;TLOD=5.57;SRC=custom;GRP=custom;CSQ=C|upstream_gene_variant|MODIFIER|MT-ND3|ENSG00000198840|Transcript|ENST00000361227|protein_coding|||||||||||3419|1||SNV|HGNC|HGNC:7458|YES||||P1||ENSP00000355206|P03897.181|Q7GXZ5.214|UPI0000000AA6||1||||||||||||||||||||||||||||||||||||||||||||MNFALILMINTLLALLLMIITFWLPQLNGYMEKSTPYECGFDPMSPARVPFSMKFFLVAITFLLFDLEIALLLPLPWALQTTNLPLMVMSSLLLIIILALSLAYEWLQKGLDWTE||,C|upstream_gene_variant|MODIFIER|MT-ND4L|ENSG00000212907|Transcript|ENST00000361335|protein_coding|||||||||||3830|1||SNV|HGNC|HGNC:7460|YES||||P1||ENSP00000354728|P03901.186|Q7GXZ4.219|UPI0000000AA7||1||||||||||||||||||||||||||||||||||||||||||||MPLIYMNIMLAFTISLLGMLVYRSHLMSSLLCLEGMMLSLFIMATLMTLNTHSLLANIVPIAMLVFAACEAAVGLALLVSISNTYGLDYVHNLNLLQC||,C|upstream_gene_variant|MODIFIER|MT-ND4|ENSG00000198886|Transcript|ENST00000361381|protein_coding|||||||||||4120|1||SNV|HGNC|HGNC:7459|YES||||P1||ENSP00000354961|P03905.203|H9EC08.93|UPI0000000AA8||1||||||||||||||||||||||||||||||||||||||||||||MLKLIVPTIMLLPLTWLSKKHMIWINTTTHSLIISIIPLLFFNQINNNLFSCSPTFSSDPLTTPLLMLTTWLLPLTIMASQRHLSSEPLSRKKLYLSMLISLQISLIMTFTATELIMFYIFFETTLIPTLAIITRWGNQPERLNAGTYFLFYTLVGSLPLLIALIYTHNTLGSLNILLLTLTAQELSNSWANNLMWLAYTMAFMVKMPLYGLHLWLPKAHVEAPIAGSMVLAAVLLKLGGYGMMRLTLILNPLTKHMAYPFLVLSLWGMIMTSSICLRQTDLKSLIAYSSISHMALVVTAILIQTPWSFTGAVILMIAHGLTSSLLFCLANSNYERTHSRIMILSQGLQTLLPLMAFWWLLASLANLALPPTINLLGELSVLVTTFSWSNITLLLTGLNMLVTALYSLYMFTTTQWGSLTHHINNMKPSFTRENTLMFMHLSPILLLSLNPDIITGFSS||,C|downstream_gene_variant|MODIFIER|MT-ND1|ENSG00000198888|Transcript|ENST00000361390|protein_coding|||||||||||2378|1||SNV|HGNC|HGNC:7455|YES||||P1||ENSP00000354687|P03886.210|U5Z754.85|UPI0000000AA1||1||||||||||||||||||||||||||||||||||||||||||||MPMANLLLLIVPILIAMAFLMLTERKILGYMQLRKGPNVVGPYGLLQPFADAMKLFTKEPLKPATSTITLYITAPTLALTIALLLWTPLPMPNPLVNLNLGLLFILATSSLAVYSILWSGWASNSNYALIGALRAVAQTISYEVTLAIILLSTLLMSGSFNLSTLITTQEHLWLLLPSWPLAMMWFISTLAETNRTPFDLAEGESELVSGFNIEYAAGPFALFFMAEYTNIIMMNTLTTTIFLGTTYDALSPELYTTYFVTKTLLLTSLFLWIRTAYPRFRYDQLMHLLWKNFLPLTLALLMWYVSMPITISSIPPQT||,C|downstream_gene_variant|MODIFIER|MT-ND2|ENSG00000198763|Transcript|ENST00000361453|protein_coding|||||||||||1129|1||SNV|HGNC|HGNC:7456|YES||||P1||ENSP00000355046|P03891.205|Q7GXY9.217|UPI0000000AA2||1||||||||||||||||||||||||||||||||||||||||||||INPLAQPVIYSTIFAGTLITALSSHWFFTWVGLEMNMLAFIPVLTKKMNPRSTEAAIKYFLTQATASMILLMAILFNNMLSGQWTMTNTTNQYSSLMIMMAMAMKLGMAPFHFWVPEVTQGTPLTSGLLLLTWQKLAPISIMYQISPSLNVSLLLTLSILSIMAGSWGGLNQTQLRKILAYSSITHMGWMMAVLPYNPNMTILNLTIYIILTTTAFLLLNLNSSTTTLLLSRTWNKLTWLTPLIPSTLLSLGGLPPLTGFLPKWAIIEEFTKNNSLIIPTIMATITLLNLYFYLRLIYSTSITLLPMSNNVKMKWQFEHTKPTPFLPTLIALTTLLLPISPFMLMIL||,C|missense_variant|MODERATE|MT-CO1|ENSG00000198804|Transcript|ENST00000361624|protein_coding|1/1||ENST00000361624.2:c.737T>C|ENSP00000354499.2:p.Leu246Pro|737|737|246|L/P|cTt/cCt|||1||SNV|HGNC|HGNC:7419|YES||||P1||ENSP00000354499|P00395.219|U5YWV7.85|UPI0000000AA3||1|deleterious_low_confidence(0)|probably_damaging(1)|PDB-ENSP_mappings:5z62.A&Pfam:PF00115&Prints:PR01165&PROSITE_patterns:PS00077&PANTHER:PTHR10422&Transmembrane_helices:TMhelix&Gene3D:1.20.210.10&Superfamily:SSF81442&CDD:cd01663&PROSITE_profiles:PS50855|||||||||||||||||||||||||||||||||||||||||MFADRWLFSTNHKDIGTLYLLFGAWAGVLGTALSLLIRAELGQPGNLLGNDHIYNVIVTAHAFVMIFFMVMPIMIGGFGNWLVPLMIGAPDMAFPRMNNMSFWLLPPSLLLLLASAMVEAGAGTGWTVYPPLAGNYSHPGASVDLTIFSLHLAGVSSILGAINFITTIINMKPPAMTQYQTPLFVWSVLITAVLLLLSLPVLAAGITMLLTDRNLNTTFFDPAGGGDPILYQHLFWFFGHPEVYILILPGFGMISHIVTYYSGKKEPFGYMGMVWAMMSIGFLGFIVWAHHMFTVGMDVDTRAYFTSATMIIAIPTGVKVFSWLATLHGSNMKWSAAVLWALGFIFLFTVGGLTGIVLANSSLDIVLHDTYYVVAHFHYVLSMGAVFAIMGGFIHWFPLFSGYTLDQTYAKIHFTIMFIGVNLTFFPQHFLGLSGMPRRYSDYPDAYTTWNILSSVGSFISLTAVMLMIFMIWEAFASKRKVLMVEEPSMNLEWLYGCPPPYHTFEEPVYMKS||,C|upstream_gene_variant|MODIFIER|MT-CO2|ENSG00000198712|Transcript|ENST00000361739|protein_coding|||||||||||946|1||SNV|HGNC|HGNC:7421|YES||||P1||ENSP00000354876|P00403.224|U5Z487.85|UPI0000000AA4||1||||||||||||||||||||||||||||||||||||||||||||MAHAAQVGLQDATSPIMEELITFHDHALMIIFLICFLVLYALFLTLTTKLTNTNISDAQEMETVWTILPAIILVLIALPSLRILYMTDEVNDPSLTIKSIGHQWYWTYEYTDYGGLIFNSYMLPPLFLEPGDLRLLDVDNRVVLPIEAPIRMMITSQDVLHSWAVPTLGLKTDAIPGRLNQTTFTATRPGVYYGQCSEICGANHSFMPIVLELIPLKIFEMGPVFTL||,C|upstream_gene_variant|MODIFIER|MT-ATP8|ENSG00000228253|Transcript|ENST00000361851|protein_coding|||||||||||1726|1||SNV|HGNC|HGNC:7415|YES||||P1||ENSP00000355265|P03928.197|U5YV54.84|UPI0000000AA5||1||||||||||||||||||||||||||||||||||||||||||||MPQLNTTVWPTMITPMLLTLFLITQLKMLNTNYHLPPSPKPMKMKNYNKPWEPKWTKICSLHSLPPQS||,C|upstream_gene_variant|MODIFIER|MT-ATP6|ENSG00000198899|Transcript|ENST00000361899|protein_coding|||||||||||1887|1||SNV|HGNC|HGNC:7414|YES||||P1||ENSP00000354632|P00846.213|Q0ZFE3.155|UPI0000001709||1||||||||||||||||||||||||||||||||||||||||||||MNENLFASFIAPTILGLPAAVLIILFPPLLIPTSKYLINNRLITTQQWLIKLTSKQMMTMHNTKGRTWSLMLVSLIIFIATTNLLGLLPHSFTPTTQLSMNLAMAIPLWAGTVIMGFRSKIKNALAHFLPQGTPTPLIPMLVIIETISLLIQPMALAVRLTANITAGHLLMHLIGSATLAMSTINLPSTLIIFTILILLTILEIAVALIQAYVFTLLVSLYLHDNT||,C|upstream_gene_variant|MODIFIER|MT-CO3|ENSG00000198938|Transcript|ENST00000362079|protein_coding|||||||||||2567|1||SNV|HGNC|HGNC:7422|YES||||P1||ENSP00000354982|P00414.205|Q7GIM7.204|UPI0000000369||1||||||||||||||||||||||||||||||||||||||||||||MTHQSHAYHMVKPSPWPLTGALSALLMTSGLAMWFHFHSMTLLMLGLLTNTLTMYQWWRDVTRESTYQGHHTPPVQKGLRYGMILFITSEVFFFAGFFWAFYHSSLAPTPQLGGHWPPTGITPLNPLEVPLLNTSVLLASGVSITWAHHSLMENNRNQMIQALLITILLGLYFTLLQASEYFESPFTISDGIYGSTFFVATGFHGLHVIIGSTFLTICFIRQLMFHFTSKHHFGFEAAAWYWHFVDVVWLFLYVSIYWWGS||,C|downstream_gene_variant|MODIFIER|MT-TL1|ENSG00000209082|Transcript|ENST00000386347|Mt_tRNA|||||||||||3336|1||SNV|HGNC|HGNC:7490|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|MT-TV|ENSG00000210077|Transcript|ENST00000387342|Mt_tRNA|||||||||||4970|1||SNV|HGNC|HGNC:7500|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|MT-RNR2|ENSG00000210082|Transcript|ENST00000387347|Mt_rRNA|||||||||||3411|1||SNV|HGNC|HGNC:7471|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|MT-TI|ENSG00000210100|Transcript|ENST00000387365|Mt_tRNA|||||||||||2309|1||SNV|HGNC|HGNC:7488|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|MT-TQ|ENSG00000210107|Transcript|ENST00000387372|Mt_tRNA|||||||||||2240|-1||SNV|HGNC|HGNC:7495|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|MT-TM|ENSG00000210112|Transcript|ENST00000387377|Mt_tRNA|||||||||||2171|1||SNV|HGNC|HGNC:7492|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|MT-TW|ENSG00000210117|Transcript|ENST00000387382|Mt_tRNA|||||||||||1061|1||SNV|HGNC|HGNC:7501|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|MT-TA|ENSG00000210127|Transcript|ENST00000387392|Mt_tRNA|||||||||||985|-1||SNV|HGNC|HGNC:7475|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|MT-TN|ENSG00000210135|Transcript|ENST00000387400|Mt_tRNA|||||||||||911|-1||SNV|HGNC|HGNC:7493|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|MT-TC|ENSG00000210140|Transcript|ENST00000387405|Mt_tRNA|||||||||||814|-1||SNV|HGNC|HGNC:7477|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|MT-TY|ENSG00000210144|Transcript|ENST00000387409|Mt_tRNA|||||||||||749|-1||SNV|HGNC|HGNC:7502|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|MT-TS1|ENSG00000210151|Transcript|ENST00000387416|Mt_tRNA|||||||||||806|-1||SNV|HGNC|HGNC:7497|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|MT-TD|ENSG00000210154|Transcript|ENST00000387419|Mt_tRNA|||||||||||878|1||SNV|HGNC|HGNC:7478|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|MT-TK|ENSG00000210156|Transcript|ENST00000387421|Mt_tRNA|||||||||||1655|1||SNV|HGNC|HGNC:7489|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|MT-TG|ENSG00000210164|Transcript|ENST00000387429|Mt_tRNA|||||||||||3351|1||SNV|HGNC|HGNC:7486|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|MT-TR|ENSG00000210174|Transcript|ENST00000387439|Mt_tRNA|||||||||||3765|1||SNV|HGNC|HGNC:7496|YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.5:4:0,0:1,1:1,1:1,1,1,1 -chrMT 9634 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C3|1%2C1;DP=12;ECNT=1;GERMQ=47;MBQ=30,32;MFRL=0,0;MMQ=40,38;MPOS=4;POPAF=7.3;TLOD=5.99;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER|MT-ND3|ENSG00000198840|Transcript|ENST00000361227|protein_coding|||||||||||425|1||SNV|HGNC|HGNC:7458|YES||||P1||ENSP00000355206|P03897.181|Q7GXZ5.214|UPI0000000AA6||1||||||||||||||||||||||||||||||||||||||||||||MNFALILMINTLLALLLMIITFWLPQLNGYMEKSTPYECGFDPMSPARVPFSMKFFLVAITFLLFDLEIALLLPLPWALQTTNLPLMVMSSLLLIIILALSLAYEWLQKGLDWTE||,A|upstream_gene_variant|MODIFIER|MT-ND4L|ENSG00000212907|Transcript|ENST00000361335|protein_coding|||||||||||836|1||SNV|HGNC|HGNC:7460|YES||||P1||ENSP00000354728|P03901.186|Q7GXZ4.219|UPI0000000AA7||1||||||||||||||||||||||||||||||||||||||||||||MPLIYMNIMLAFTISLLGMLVYRSHLMSSLLCLEGMMLSLFIMATLMTLNTHSLLANIVPIAMLVFAACEAAVGLALLVSISNTYGLDYVHNLNLLQC||,A|upstream_gene_variant|MODIFIER|MT-ND4|ENSG00000198886|Transcript|ENST00000361381|protein_coding|||||||||||1126|1||SNV|HGNC|HGNC:7459|YES||||P1||ENSP00000354961|P03905.203|H9EC08.93|UPI0000000AA8||1||||||||||||||||||||||||||||||||||||||||||||MLKLIVPTIMLLPLTWLSKKHMIWINTTTHSLIISIIPLLFFNQINNNLFSCSPTFSSDPLTTPLLMLTTWLLPLTIMASQRHLSSEPLSRKKLYLSMLISLQISLIMTFTATELIMFYIFFETTLIPTLAIITRWGNQPERLNAGTYFLFYTLVGSLPLLIALIYTHNTLGSLNILLLTLTAQELSNSWANNLMWLAYTMAFMVKMPLYGLHLWLPKAHVEAPIAGSMVLAAVLLKLGGYGMMRLTLILNPLTKHMAYPFLVLSLWGMIMTSSICLRQTDLKSLIAYSSISHMALVVTAILIQTPWSFTGAVILMIAHGLTSSLLFCLANSNYERTHSRIMILSQGLQTLLPLMAFWWLLASLANLALPPTINLLGELSVLVTTFSWSNITLLLTGLNMLVTALYSLYMFTTTQWGSLTHHINNMKPSFTRENTLMFMHLSPILLLSLNPDIITGFSS||,A|downstream_gene_variant|MODIFIER|MT-ND2|ENSG00000198763|Transcript|ENST00000361453|protein_coding|||||||||||4123|1||SNV|HGNC|HGNC:7456|YES||||P1||ENSP00000355046|P03891.205|Q7GXY9.217|UPI0000000AA2||1||||||||||||||||||||||||||||||||||||||||||||INPLAQPVIYSTIFAGTLITALSSHWFFTWVGLEMNMLAFIPVLTKKMNPRSTEAAIKYFLTQATASMILLMAILFNNMLSGQWTMTNTTNQYSSLMIMMAMAMKLGMAPFHFWVPEVTQGTPLTSGLLLLTWQKLAPISIMYQISPSLNVSLLLTLSILSIMAGSWGGLNQTQLRKILAYSSITHMGWMMAVLPYNPNMTILNLTIYIILTTTAFLLLNLNSSTTTLLLSRTWNKLTWLTPLIPSTLLSLGGLPPLTGFLPKWAIIEEFTKNNSLIIPTIMATITLLNLYFYLRLIYSTSITLLPMSNNVKMKWQFEHTKPTPFLPTLIALTTLLLPISPFMLMIL||,A|upstream_gene_variant|MODIFIER|MT-ND5|ENSG00000198786|Transcript|ENST00000361567|protein_coding|||||||||||2703|1||SNV|HGNC|HGNC:7461|YES||||P1||ENSP00000354813|P03915.211|U5ZC31.85|UPI0000000A9D||1||||||||||||||||||||||||||||||||||||||||||||MTMHTTMTTLTLTSLIPPILTTLVNPNKKNSYPHYVKSIVASTFIISLFPTTMFMCLDQEVIISNWHWATTQTTQLSLSFKLDYFSMMFIPVALFVTWSIMEFSLWYMNSDPNINQFFKYLLIFLITMLILVTANNLFQLFIGWEGVGIMSFLLISWWYARADANTAAIQAILYNRIGDIGFILALAWFILHSNSWDPQQMALLNANPSLTPLLGLLLAAAGKSAQLGLHPWLPSAMEGPTPVSALLHSSTMVVAGIFLLIRFHPLAENSPLIQTLTLCLGAITTLFAAVCALTQNDIKKIVAFSTSSQLGLMMVTIGINQPHLAFLHICTHAFFKAMLFMCSGSIIHNLNNEQDIRKMGGLLKTMPLTSTSLTIGSLALAGMPFLTGFYSKDHIIETANMSYTNAWALSITLIATSLTSAYSTRMILLTLTGQPRFPTLTNINENNPTLLNPIKRLAAGSLFAGFLITNNISPASPFQTTIPLYLKLTALAVTFLGLLTALDLNYLTNKLKMKSPLCTFYFSNMLGFYPSITHRTIPYLGLLTSQNLPLLLLDLTWLEKLLPKTISQHQISTSIITSTQKGMIKLYFLSFFFPLILTLLLIT||,A|downstream_gene_variant|MODIFIER|MT-CO1|ENSG00000198804|Transcript|ENST00000361624|protein_coding|||||||||||2189|1||SNV|HGNC|HGNC:7419|YES||||P1||ENSP00000354499|P00395.219|U5YWV7.85|UPI0000000AA3||1||||||||||||||||||||||||||||||||||||||||||||MFADRWLFSTNHKDIGTLYLLFGAWAGVLGTALSLLIRAELGQPGNLLGNDHIYNVIVTAHAFVMIFFMVMPIMIGGFGNWLVPLMIGAPDMAFPRMNNMSFWLLPPSLLLLLASAMVEAGAGTGWTVYPPLAGNYSHPGASVDLTIFSLHLAGVSSILGAINFITTIINMKPPAMTQYQTPLFVWSVLITAVLLLLSLPVLAAGITMLLTDRNLNTTFFDPAGGGDPILYQHLFWFFGHPEVYILILPGFGMISHIVTYYSGKKEPFGYMGMVWAMMSIGFLGFIVWAHHMFTVGMDVDTRAYFTSATMIIAIPTGVKVFSWLATLHGSNMKWSAAVLWALGFIFLFTVGGLTGIVLANSSLDIVLHDTYYVVAHFHYVLSMGAVFAIMGGFIHWFPLFSGYTLDQTYAKIHFTIMFIGVNLTFFPQHFLGLSGMPRRYSDYPDAYTTWNILSSVGSFISLTAVMLMIFMIWEAFASKRKVLMVEEPSMNLEWLYGCPPPYHTFEEPVYMKS||,A|downstream_gene_variant|MODIFIER|MT-ND6|ENSG00000198695|Transcript|ENST00000361681|protein_coding|||||||||||4515|-1||SNV|HGNC|HGNC:7462|YES||||P1||ENSP00000354665|P03923.201|U5Z977.85|UPI0000000AA9||1||||||||||||||||||||||||||||||||||||||||||||MMYALFLLSVGLVMGFVGFSSKPSPIYGGLVLIVSGVVGCVIILNFGGGYMGLMVFLIYLGGMMVVFGYTTAMAIEEYPEAWGSGVEVLVSVLVGLAMEVGLVLWVKEYDGVVVVVNFNSVGSWMIYEGEGSGLIREDPIGAGALYDYGRWLVVVTGWTLFVGVYIVIEIARGN||,A|downstream_gene_variant|MODIFIER|MT-CO2|ENSG00000198712|Transcript|ENST00000361739|protein_coding|||||||||||1365|1||SNV|HGNC|HGNC:7421|YES||||P1||ENSP00000354876|P00403.224|U5Z487.85|UPI0000000AA4||1||||||||||||||||||||||||||||||||||||||||||||MAHAAQVGLQDATSPIMEELITFHDHALMIIFLICFLVLYALFLTLTTKLTNTNISDAQEMETVWTILPAIILVLIALPSLRILYMTDEVNDPSLTIKSIGHQWYWTYEYTDYGGLIFNSYMLPPLFLEPGDLRLLDVDNRVVLPIEAPIRMMITSQDVLHSWAVPTLGLKTDAIPGRLNQTTFTATRPGVYYGQCSEICGANHSFMPIVLELIPLKIFEMGPVFTL||,A|downstream_gene_variant|MODIFIER|MT-ATP8|ENSG00000228253|Transcript|ENST00000361851|protein_coding|||||||||||1062|1||SNV|HGNC|HGNC:7415|YES||||P1||ENSP00000355265|P03928.197|U5YV54.84|UPI0000000AA5||1||||||||||||||||||||||||||||||||||||||||||||MPQLNTTVWPTMITPMLLTLFLITQLKMLNTNYHLPPSPKPMKMKNYNKPWEPKWTKICSLHSLPPQS||,A|downstream_gene_variant|MODIFIER|MT-ATP6|ENSG00000198899|Transcript|ENST00000361899|protein_coding|||||||||||427|1||SNV|HGNC|HGNC:7414|YES||||P1||ENSP00000354632|P00846.213|Q0ZFE3.155|UPI0000001709||1||||||||||||||||||||||||||||||||||||||||||||MNENLFASFIAPTILGLPAAVLIILFPPLLIPTSKYLINNRLITTQQWLIKLTSKQMMTMHNTKGRTWSLMLVSLIIFIATTNLLGLLPHSFTPTTQLSMNLAMAIPLWAGTVIMGFRSKIKNALAHFLPQGTPTPLIPMLVIIETISLLIQPMALAVRLTANITAGHLLMHLIGSATLAMSTINLPSTLIIFTILILLTILEIAVALIQAYVFTLLVSLYLHDNT||,A|stop_gained|HIGH|MT-CO3|ENSG00000198938|Transcript|ENST00000362079|protein_coding|1/1||ENST00000362079.2:c.428C>A|ENSP00000354982.2:p.Ser143Ter|428|428|143|S/*|tCa/tAa|||1||SNV|HGNC|HGNC:7422|YES||||P1||ENSP00000354982|P00414.205|Q7GIM7.204|UPI0000000369||1|||Gene3D:1.20.120.80&PDB-ENSP_mappings:5z62.C&Pfam:PF00510&PROSITE_profiles:PS50253&PANTHER:PTHR11403&Superfamily:SSF81452&CDD:cd01665||||||||||||||||||||||||||||||||||||||||NMD_escaping_variant|MTHQSHAYHMVKPSPWPLTGALSALLMTSGLAMWFHFHSMTLLMLGLLTNTLTMYQWWRDVTRESTYQGHHTPPVQKGLRYGMILFITSEVFFFAGFFWAFYHSSLAPTPQLGGHWPPTGITPLNPLEVPLLNTSVLLASGVSITWAHHSLMENNRNQMIQALLITILLGLYFTLLQASEYFESPFTISDGIYGSTFFVATGFHGLHVIIGSTFLTICFIRQLMFHFTSKHHFGFEAAAWYWHFVDVVWLFLYVSIYWWGS||,A|downstream_gene_variant|MODIFIER|MT-TW|ENSG00000210117|Transcript|ENST00000387382|Mt_tRNA|||||||||||4055|1||SNV|HGNC|HGNC:7501|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|MT-TA|ENSG00000210127|Transcript|ENST00000387392|Mt_tRNA|||||||||||3979|-1||SNV|HGNC|HGNC:7475|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|MT-TN|ENSG00000210135|Transcript|ENST00000387400|Mt_tRNA|||||||||||3905|-1||SNV|HGNC|HGNC:7493|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|MT-TC|ENSG00000210140|Transcript|ENST00000387405|Mt_tRNA|||||||||||3808|-1||SNV|HGNC|HGNC:7477|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|MT-TY|ENSG00000210144|Transcript|ENST00000387409|Mt_tRNA|||||||||||3743|-1||SNV|HGNC|HGNC:7502|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|MT-TS1|ENSG00000210151|Transcript|ENST00000387416|Mt_tRNA|||||||||||2120|-1||SNV|HGNC|HGNC:7497|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|MT-TD|ENSG00000210154|Transcript|ENST00000387419|Mt_tRNA|||||||||||2049|1||SNV|HGNC|HGNC:7478|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|MT-TK|ENSG00000210156|Transcript|ENST00000387421|Mt_tRNA|||||||||||1270|1||SNV|HGNC|HGNC:7489|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|MT-TG|ENSG00000210164|Transcript|ENST00000387429|Mt_tRNA|||||||||||357|1||SNV|HGNC|HGNC:7486|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|MT-TR|ENSG00000210174|Transcript|ENST00000387439|Mt_tRNA|||||||||||771|1||SNV|HGNC|HGNC:7496|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|MT-TH|ENSG00000210176|Transcript|ENST00000387441|Mt_tRNA|||||||||||2504|1||SNV|HGNC|HGNC:7487|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|MT-TS2|ENSG00000210184|Transcript|ENST00000387449|Mt_tRNA|||||||||||2573|1||SNV|HGNC|HGNC:7498|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|MT-TL2|ENSG00000210191|Transcript|ENST00000387456|Mt_tRNA|||||||||||2632|1||SNV|HGNC|HGNC:7491|YES|||||||||||1|||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,2:0.326:8:0,0:3,1:3,1:3,3,1,1 -chrMT 9732 . C T . clustered_events;strand_bias;weak_evidence AS_FilterStatus=weak_evidence,strand_bias;AS_SB_TABLE=18%2C18|1%2C1;DP=38;ECNT=6;GERMQ=93;MBQ=34,33;MFRL=0,0;MMQ=42,46;MPOS=89;POPAF=7.3;TLOD=4.97;SRC=custom;GRP=custom;CSQ=T|upstream_gene_variant|MODIFIER|MT-ND3|ENSG00000198840|Transcript|ENST00000361227|protein_coding||||||||||rs1603222466|327|1||SNV|HGNC|HGNC:7458|YES||||P1||ENSP00000355206|P03897.181|Q7GXZ5.214|UPI0000000AA6||1||||||||||||||||||||||||||||||||||||||||||||MNFALILMINTLLALLLMIITFWLPQLNGYMEKSTPYECGFDPMSPARVPFSMKFFLVAITFLLFDLEIALLLPLPWALQTTNLPLMVMSSLLLIIILALSLAYEWLQKGLDWTE||,T|upstream_gene_variant|MODIFIER|MT-ND4L|ENSG00000212907|Transcript|ENST00000361335|protein_coding||||||||||rs1603222466|738|1||SNV|HGNC|HGNC:7460|YES||||P1||ENSP00000354728|P03901.186|Q7GXZ4.219|UPI0000000AA7||1||||||||||||||||||||||||||||||||||||||||||||MPLIYMNIMLAFTISLLGMLVYRSHLMSSLLCLEGMMLSLFIMATLMTLNTHSLLANIVPIAMLVFAACEAAVGLALLVSISNTYGLDYVHNLNLLQC||,T|upstream_gene_variant|MODIFIER|MT-ND4|ENSG00000198886|Transcript|ENST00000361381|protein_coding||||||||||rs1603222466|1028|1||SNV|HGNC|HGNC:7459|YES||||P1||ENSP00000354961|P03905.203|H9EC08.93|UPI0000000AA8||1||||||||||||||||||||||||||||||||||||||||||||MLKLIVPTIMLLPLTWLSKKHMIWINTTTHSLIISIIPLLFFNQINNNLFSCSPTFSSDPLTTPLLMLTTWLLPLTIMASQRHLSSEPLSRKKLYLSMLISLQISLIMTFTATELIMFYIFFETTLIPTLAIITRWGNQPERLNAGTYFLFYTLVGSLPLLIALIYTHNTLGSLNILLLTLTAQELSNSWANNLMWLAYTMAFMVKMPLYGLHLWLPKAHVEAPIAGSMVLAAVLLKLGGYGMMRLTLILNPLTKHMAYPFLVLSLWGMIMTSSICLRQTDLKSLIAYSSISHMALVVTAILIQTPWSFTGAVILMIAHGLTSSLLFCLANSNYERTHSRIMILSQGLQTLLPLMAFWWLLASLANLALPPTINLLGELSVLVTTFSWSNITLLLTGLNMLVTALYSLYMFTTTQWGSLTHHINNMKPSFTRENTLMFMHLSPILLLSLNPDIITGFSS||,T|downstream_gene_variant|MODIFIER|MT-ND2|ENSG00000198763|Transcript|ENST00000361453|protein_coding||||||||||rs1603222466|4221|1||SNV|HGNC|HGNC:7456|YES||||P1||ENSP00000355046|P03891.205|Q7GXY9.217|UPI0000000AA2||1||||||||||||||||||||||||||||||||||||||||||||INPLAQPVIYSTIFAGTLITALSSHWFFTWVGLEMNMLAFIPVLTKKMNPRSTEAAIKYFLTQATASMILLMAILFNNMLSGQWTMTNTTNQYSSLMIMMAMAMKLGMAPFHFWVPEVTQGTPLTSGLLLLTWQKLAPISIMYQISPSLNVSLLLTLSILSIMAGSWGGLNQTQLRKILAYSSITHMGWMMAVLPYNPNMTILNLTIYIILTTTAFLLLNLNSSTTTLLLSRTWNKLTWLTPLIPSTLLSLGGLPPLTGFLPKWAIIEEFTKNNSLIIPTIMATITLLNLYFYLRLIYSTSITLLPMSNNVKMKWQFEHTKPTPFLPTLIALTTLLLPISPFMLMIL||,T|upstream_gene_variant|MODIFIER|MT-ND5|ENSG00000198786|Transcript|ENST00000361567|protein_coding||||||||||rs1603222466|2605|1||SNV|HGNC|HGNC:7461|YES||||P1||ENSP00000354813|P03915.211|U5ZC31.85|UPI0000000A9D||1||||||||||||||||||||||||||||||||||||||||||||MTMHTTMTTLTLTSLIPPILTTLVNPNKKNSYPHYVKSIVASTFIISLFPTTMFMCLDQEVIISNWHWATTQTTQLSLSFKLDYFSMMFIPVALFVTWSIMEFSLWYMNSDPNINQFFKYLLIFLITMLILVTANNLFQLFIGWEGVGIMSFLLISWWYARADANTAAIQAILYNRIGDIGFILALAWFILHSNSWDPQQMALLNANPSLTPLLGLLLAAAGKSAQLGLHPWLPSAMEGPTPVSALLHSSTMVVAGIFLLIRFHPLAENSPLIQTLTLCLGAITTLFAAVCALTQNDIKKIVAFSTSSQLGLMMVTIGINQPHLAFLHICTHAFFKAMLFMCSGSIIHNLNNEQDIRKMGGLLKTMPLTSTSLTIGSLALAGMPFLTGFYSKDHIIETANMSYTNAWALSITLIATSLTSAYSTRMILLTLTGQPRFPTLTNINENNPTLLNPIKRLAAGSLFAGFLITNNISPASPFQTTIPLYLKLTALAVTFLGLLTALDLNYLTNKLKMKSPLCTFYFSNMLGFYPSITHRTIPYLGLLTSQNLPLLLLDLTWLEKLLPKTISQHQISTSIITSTQKGMIKLYFLSFFFPLILTLLLIT||,T|downstream_gene_variant|MODIFIER|MT-CO1|ENSG00000198804|Transcript|ENST00000361624|protein_coding||||||||||rs1603222466|2287|1||SNV|HGNC|HGNC:7419|YES||||P1||ENSP00000354499|P00395.219|U5YWV7.85|UPI0000000AA3||1||||||||||||||||||||||||||||||||||||||||||||MFADRWLFSTNHKDIGTLYLLFGAWAGVLGTALSLLIRAELGQPGNLLGNDHIYNVIVTAHAFVMIFFMVMPIMIGGFGNWLVPLMIGAPDMAFPRMNNMSFWLLPPSLLLLLASAMVEAGAGTGWTVYPPLAGNYSHPGASVDLTIFSLHLAGVSSILGAINFITTIINMKPPAMTQYQTPLFVWSVLITAVLLLLSLPVLAAGITMLLTDRNLNTTFFDPAGGGDPILYQHLFWFFGHPEVYILILPGFGMISHIVTYYSGKKEPFGYMGMVWAMMSIGFLGFIVWAHHMFTVGMDVDTRAYFTSATMIIAIPTGVKVFSWLATLHGSNMKWSAAVLWALGFIFLFTVGGLTGIVLANSSLDIVLHDTYYVVAHFHYVLSMGAVFAIMGGFIHWFPLFSGYTLDQTYAKIHFTIMFIGVNLTFFPQHFLGLSGMPRRYSDYPDAYTTWNILSSVGSFISLTAVMLMIFMIWEAFASKRKVLMVEEPSMNLEWLYGCPPPYHTFEEPVYMKS||,T|downstream_gene_variant|MODIFIER|MT-ND6|ENSG00000198695|Transcript|ENST00000361681|protein_coding||||||||||rs1603222466|4417|-1||SNV|HGNC|HGNC:7462|YES||||P1||ENSP00000354665|P03923.201|U5Z977.85|UPI0000000AA9||1||||||||||||||||||||||||||||||||||||||||||||MMYALFLLSVGLVMGFVGFSSKPSPIYGGLVLIVSGVVGCVIILNFGGGYMGLMVFLIYLGGMMVVFGYTTAMAIEEYPEAWGSGVEVLVSVLVGLAMEVGLVLWVKEYDGVVVVVNFNSVGSWMIYEGEGSGLIREDPIGAGALYDYGRWLVVVTGWTLFVGVYIVIEIARGN||,T|downstream_gene_variant|MODIFIER|MT-CO2|ENSG00000198712|Transcript|ENST00000361739|protein_coding||||||||||rs1603222466|1463|1||SNV|HGNC|HGNC:7421|YES||||P1||ENSP00000354876|P00403.224|U5Z487.85|UPI0000000AA4||1||||||||||||||||||||||||||||||||||||||||||||MAHAAQVGLQDATSPIMEELITFHDHALMIIFLICFLVLYALFLTLTTKLTNTNISDAQEMETVWTILPAIILVLIALPSLRILYMTDEVNDPSLTIKSIGHQWYWTYEYTDYGGLIFNSYMLPPLFLEPGDLRLLDVDNRVVLPIEAPIRMMITSQDVLHSWAVPTLGLKTDAIPGRLNQTTFTATRPGVYYGQCSEICGANHSFMPIVLELIPLKIFEMGPVFTL||,T|downstream_gene_variant|MODIFIER|MT-ATP8|ENSG00000228253|Transcript|ENST00000361851|protein_coding||||||||||rs1603222466|1160|1||SNV|HGNC|HGNC:7415|YES||||P1||ENSP00000355265|P03928.197|U5YV54.84|UPI0000000AA5||1||||||||||||||||||||||||||||||||||||||||||||MPQLNTTVWPTMITPMLLTLFLITQLKMLNTNYHLPPSPKPMKMKNYNKPWEPKWTKICSLHSLPPQS||,T|downstream_gene_variant|MODIFIER|MT-ATP6|ENSG00000198899|Transcript|ENST00000361899|protein_coding||||||||||rs1603222466|525|1||SNV|HGNC|HGNC:7414|YES||||P1||ENSP00000354632|P00846.213|Q0ZFE3.155|UPI0000001709||1||||||||||||||||||||||||||||||||||||||||||||MNENLFASFIAPTILGLPAAVLIILFPPLLIPTSKYLINNRLITTQQWLIKLTSKQMMTMHNTKGRTWSLMLVSLIIFIATTNLLGLLPHSFTPTTQLSMNLAMAIPLWAGTVIMGFRSKIKNALAHFLPQGTPTPLIPMLVIIETISLLIQPMALAVRLTANITAGHLLMHLIGSATLAMSTINLPSTLIIFTILILLTILEIAVALIQAYVFTLLVSLYLHDNT||,T|synonymous_variant|LOW|MT-CO3|ENSG00000198938|Transcript|ENST00000362079|protein_coding|1/1||ENST00000362079.2:c.526C>T|ENSP00000354982.2:p.Leu176%3D|526|526|176|L|Cta/Tta|rs1603222466||1||SNV|HGNC|HGNC:7422|YES||||P1||ENSP00000354982|P00414.205|Q7GIM7.204|UPI0000000369||1|||Gene3D:1.20.120.80&PDB-ENSP_mappings:5z62.C&Pfam:PF00510&PROSITE_profiles:PS50253&PANTHER:PTHR11403&Superfamily:SSF81452&Transmembrane_helices:TMhelix&CDD:cd01665|||||||||||||||||||||||||||||||||||||||||MTHQSHAYHMVKPSPWPLTGALSALLMTSGLAMWFHFHSMTLLMLGLLTNTLTMYQWWRDVTRESTYQGHHTPPVQKGLRYGMILFITSEVFFFAGFFWAFYHSSLAPTPQLGGHWPPTGITPLNPLEVPLLNTSVLLASGVSITWAHHSLMENNRNQMIQALLITILLGLYFTLLQASEYFESPFTISDGIYGSTFFVATGFHGLHVIIGSTFLTICFIRQLMFHFTSKHHFGFEAAAWYWHFVDVVWLFLYVSIYWWGS||,T|downstream_gene_variant|MODIFIER|MT-TW|ENSG00000210117|Transcript|ENST00000387382|Mt_tRNA||||||||||rs1603222466|4153|1||SNV|HGNC|HGNC:7501|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|MT-TA|ENSG00000210127|Transcript|ENST00000387392|Mt_tRNA||||||||||rs1603222466|4077|-1||SNV|HGNC|HGNC:7475|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|MT-TN|ENSG00000210135|Transcript|ENST00000387400|Mt_tRNA||||||||||rs1603222466|4003|-1||SNV|HGNC|HGNC:7493|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|MT-TC|ENSG00000210140|Transcript|ENST00000387405|Mt_tRNA||||||||||rs1603222466|3906|-1||SNV|HGNC|HGNC:7477|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|MT-TY|ENSG00000210144|Transcript|ENST00000387409|Mt_tRNA||||||||||rs1603222466|3841|-1||SNV|HGNC|HGNC:7502|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|MT-TS1|ENSG00000210151|Transcript|ENST00000387416|Mt_tRNA||||||||||rs1603222466|2218|-1||SNV|HGNC|HGNC:7497|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|MT-TD|ENSG00000210154|Transcript|ENST00000387419|Mt_tRNA||||||||||rs1603222466|2147|1||SNV|HGNC|HGNC:7478|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|MT-TK|ENSG00000210156|Transcript|ENST00000387421|Mt_tRNA||||||||||rs1603222466|1368|1||SNV|HGNC|HGNC:7489|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|MT-TG|ENSG00000210164|Transcript|ENST00000387429|Mt_tRNA||||||||||rs1603222466|259|1||SNV|HGNC|HGNC:7486|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|MT-TR|ENSG00000210174|Transcript|ENST00000387439|Mt_tRNA||||||||||rs1603222466|673|1||SNV|HGNC|HGNC:7496|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|MT-TH|ENSG00000210176|Transcript|ENST00000387441|Mt_tRNA||||||||||rs1603222466|2406|1||SNV|HGNC|HGNC:7487|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|MT-TS2|ENSG00000210184|Transcript|ENST00000387449|Mt_tRNA||||||||||rs1603222466|2475|1||SNV|HGNC|HGNC:7498|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|MT-TL2|ENSG00000210191|Transcript|ENST00000387456|Mt_tRNA||||||||||rs1603222466|2534|1||SNV|HGNC|HGNC:7491|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|MT-TE|ENSG00000210194|Transcript|ENST00000387459|Mt_tRNA||||||||||rs1603222466|4942|-1||SNV|HGNC|HGNC:7479|YES|||||||||||1|||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:36,2:0.095:38:0,0:18,1:18,1:18,18,1,1 -chrMT 9756 . T C . clustered_events;strand_bias;weak_evidence AS_FilterStatus=weak_evidence,strand_bias;AS_SB_TABLE=18%2C18|1%2C1;DP=38;ECNT=6;GERMQ=93;MBQ=33,32;MFRL=0,0;MMQ=42,36;MPOS=20;POPAF=7.3;TLOD=4.67;SRC=custom;GRP=custom;CSQ=C|upstream_gene_variant|MODIFIER|MT-ND3|ENSG00000198840|Transcript|ENST00000361227|protein_coding|||||||||||303|1||SNV|HGNC|HGNC:7458|YES||||P1||ENSP00000355206|P03897.181|Q7GXZ5.214|UPI0000000AA6||1||||||||||||||||||||||||||||||||||||||||||||MNFALILMINTLLALLLMIITFWLPQLNGYMEKSTPYECGFDPMSPARVPFSMKFFLVAITFLLFDLEIALLLPLPWALQTTNLPLMVMSSLLLIIILALSLAYEWLQKGLDWTE||,C|upstream_gene_variant|MODIFIER|MT-ND4L|ENSG00000212907|Transcript|ENST00000361335|protein_coding|||||||||||714|1||SNV|HGNC|HGNC:7460|YES||||P1||ENSP00000354728|P03901.186|Q7GXZ4.219|UPI0000000AA7||1||||||||||||||||||||||||||||||||||||||||||||MPLIYMNIMLAFTISLLGMLVYRSHLMSSLLCLEGMMLSLFIMATLMTLNTHSLLANIVPIAMLVFAACEAAVGLALLVSISNTYGLDYVHNLNLLQC||,C|upstream_gene_variant|MODIFIER|MT-ND4|ENSG00000198886|Transcript|ENST00000361381|protein_coding|||||||||||1004|1||SNV|HGNC|HGNC:7459|YES||||P1||ENSP00000354961|P03905.203|H9EC08.93|UPI0000000AA8||1||||||||||||||||||||||||||||||||||||||||||||MLKLIVPTIMLLPLTWLSKKHMIWINTTTHSLIISIIPLLFFNQINNNLFSCSPTFSSDPLTTPLLMLTTWLLPLTIMASQRHLSSEPLSRKKLYLSMLISLQISLIMTFTATELIMFYIFFETTLIPTLAIITRWGNQPERLNAGTYFLFYTLVGSLPLLIALIYTHNTLGSLNILLLTLTAQELSNSWANNLMWLAYTMAFMVKMPLYGLHLWLPKAHVEAPIAGSMVLAAVLLKLGGYGMMRLTLILNPLTKHMAYPFLVLSLWGMIMTSSICLRQTDLKSLIAYSSISHMALVVTAILIQTPWSFTGAVILMIAHGLTSSLLFCLANSNYERTHSRIMILSQGLQTLLPLMAFWWLLASLANLALPPTINLLGELSVLVTTFSWSNITLLLTGLNMLVTALYSLYMFTTTQWGSLTHHINNMKPSFTRENTLMFMHLSPILLLSLNPDIITGFSS||,C|downstream_gene_variant|MODIFIER|MT-ND2|ENSG00000198763|Transcript|ENST00000361453|protein_coding|||||||||||4245|1||SNV|HGNC|HGNC:7456|YES||||P1||ENSP00000355046|P03891.205|Q7GXY9.217|UPI0000000AA2||1||||||||||||||||||||||||||||||||||||||||||||INPLAQPVIYSTIFAGTLITALSSHWFFTWVGLEMNMLAFIPVLTKKMNPRSTEAAIKYFLTQATASMILLMAILFNNMLSGQWTMTNTTNQYSSLMIMMAMAMKLGMAPFHFWVPEVTQGTPLTSGLLLLTWQKLAPISIMYQISPSLNVSLLLTLSILSIMAGSWGGLNQTQLRKILAYSSITHMGWMMAVLPYNPNMTILNLTIYIILTTTAFLLLNLNSSTTTLLLSRTWNKLTWLTPLIPSTLLSLGGLPPLTGFLPKWAIIEEFTKNNSLIIPTIMATITLLNLYFYLRLIYSTSITLLPMSNNVKMKWQFEHTKPTPFLPTLIALTTLLLPISPFMLMIL||,C|upstream_gene_variant|MODIFIER|MT-ND5|ENSG00000198786|Transcript|ENST00000361567|protein_coding|||||||||||2581|1||SNV|HGNC|HGNC:7461|YES||||P1||ENSP00000354813|P03915.211|U5ZC31.85|UPI0000000A9D||1||||||||||||||||||||||||||||||||||||||||||||MTMHTTMTTLTLTSLIPPILTTLVNPNKKNSYPHYVKSIVASTFIISLFPTTMFMCLDQEVIISNWHWATTQTTQLSLSFKLDYFSMMFIPVALFVTWSIMEFSLWYMNSDPNINQFFKYLLIFLITMLILVTANNLFQLFIGWEGVGIMSFLLISWWYARADANTAAIQAILYNRIGDIGFILALAWFILHSNSWDPQQMALLNANPSLTPLLGLLLAAAGKSAQLGLHPWLPSAMEGPTPVSALLHSSTMVVAGIFLLIRFHPLAENSPLIQTLTLCLGAITTLFAAVCALTQNDIKKIVAFSTSSQLGLMMVTIGINQPHLAFLHICTHAFFKAMLFMCSGSIIHNLNNEQDIRKMGGLLKTMPLTSTSLTIGSLALAGMPFLTGFYSKDHIIETANMSYTNAWALSITLIATSLTSAYSTRMILLTLTGQPRFPTLTNINENNPTLLNPIKRLAAGSLFAGFLITNNISPASPFQTTIPLYLKLTALAVTFLGLLTALDLNYLTNKLKMKSPLCTFYFSNMLGFYPSITHRTIPYLGLLTSQNLPLLLLDLTWLEKLLPKTISQHQISTSIITSTQKGMIKLYFLSFFFPLILTLLLIT||,C|downstream_gene_variant|MODIFIER|MT-CO1|ENSG00000198804|Transcript|ENST00000361624|protein_coding|||||||||||2311|1||SNV|HGNC|HGNC:7419|YES||||P1||ENSP00000354499|P00395.219|U5YWV7.85|UPI0000000AA3||1||||||||||||||||||||||||||||||||||||||||||||MFADRWLFSTNHKDIGTLYLLFGAWAGVLGTALSLLIRAELGQPGNLLGNDHIYNVIVTAHAFVMIFFMVMPIMIGGFGNWLVPLMIGAPDMAFPRMNNMSFWLLPPSLLLLLASAMVEAGAGTGWTVYPPLAGNYSHPGASVDLTIFSLHLAGVSSILGAINFITTIINMKPPAMTQYQTPLFVWSVLITAVLLLLSLPVLAAGITMLLTDRNLNTTFFDPAGGGDPILYQHLFWFFGHPEVYILILPGFGMISHIVTYYSGKKEPFGYMGMVWAMMSIGFLGFIVWAHHMFTVGMDVDTRAYFTSATMIIAIPTGVKVFSWLATLHGSNMKWSAAVLWALGFIFLFTVGGLTGIVLANSSLDIVLHDTYYVVAHFHYVLSMGAVFAIMGGFIHWFPLFSGYTLDQTYAKIHFTIMFIGVNLTFFPQHFLGLSGMPRRYSDYPDAYTTWNILSSVGSFISLTAVMLMIFMIWEAFASKRKVLMVEEPSMNLEWLYGCPPPYHTFEEPVYMKS||,C|downstream_gene_variant|MODIFIER|MT-ND6|ENSG00000198695|Transcript|ENST00000361681|protein_coding|||||||||||4393|-1||SNV|HGNC|HGNC:7462|YES||||P1||ENSP00000354665|P03923.201|U5Z977.85|UPI0000000AA9||1||||||||||||||||||||||||||||||||||||||||||||MMYALFLLSVGLVMGFVGFSSKPSPIYGGLVLIVSGVVGCVIILNFGGGYMGLMVFLIYLGGMMVVFGYTTAMAIEEYPEAWGSGVEVLVSVLVGLAMEVGLVLWVKEYDGVVVVVNFNSVGSWMIYEGEGSGLIREDPIGAGALYDYGRWLVVVTGWTLFVGVYIVIEIARGN||,C|downstream_gene_variant|MODIFIER|MT-CO2|ENSG00000198712|Transcript|ENST00000361739|protein_coding|||||||||||1487|1||SNV|HGNC|HGNC:7421|YES||||P1||ENSP00000354876|P00403.224|U5Z487.85|UPI0000000AA4||1||||||||||||||||||||||||||||||||||||||||||||MAHAAQVGLQDATSPIMEELITFHDHALMIIFLICFLVLYALFLTLTTKLTNTNISDAQEMETVWTILPAIILVLIALPSLRILYMTDEVNDPSLTIKSIGHQWYWTYEYTDYGGLIFNSYMLPPLFLEPGDLRLLDVDNRVVLPIEAPIRMMITSQDVLHSWAVPTLGLKTDAIPGRLNQTTFTATRPGVYYGQCSEICGANHSFMPIVLELIPLKIFEMGPVFTL||,C|upstream_gene_variant|MODIFIER|MT-CYB|ENSG00000198727|Transcript|ENST00000361789|protein_coding|||||||||||4991|1||SNV|HGNC|HGNC:7427|YES||||P1||ENSP00000354554|P00156.226|Q0ZFD6.150|UPI0000DA7DCA||1||||||||||||||||||||||||||||||||||||||||||||MTPMRKTNPLMKLINHSFIDLPTPSNISAWWNFGSLLGACLILQITTGLFLAMHYSPDASTAFSSIAHITRDVNYGWIIRYLHANGASMFFICLFLHIGRGLYYGSFLYSETWNIGIILLLATMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTDLVQWIWGGYSVDSPTLTRFFTFHFILPFIIAALATLHLLFLHETGSNNPLGITSHSDKITFHPYYTIKDALGLLLFLLSLMTLTLFSPDLLGDPDNYTLANPLNTPPHIKPEWYFLFAYTILRSVPNKLGGVLALLLSILILAMIPILHMSKQQSMMFRPLSQSLYWLLAADLLILTWIGGQPVSYPFTIIGQVASVLYFTTILILMPTISLIENKMLKWA||,C|downstream_gene_variant|MODIFIER|MT-ATP8|ENSG00000228253|Transcript|ENST00000361851|protein_coding|||||||||||1184|1||SNV|HGNC|HGNC:7415|YES||||P1||ENSP00000355265|P03928.197|U5YV54.84|UPI0000000AA5||1||||||||||||||||||||||||||||||||||||||||||||MPQLNTTVWPTMITPMLLTLFLITQLKMLNTNYHLPPSPKPMKMKNYNKPWEPKWTKICSLHSLPPQS||,C|downstream_gene_variant|MODIFIER|MT-ATP6|ENSG00000198899|Transcript|ENST00000361899|protein_coding|||||||||||549|1||SNV|HGNC|HGNC:7414|YES||||P1||ENSP00000354632|P00846.213|Q0ZFE3.155|UPI0000001709||1||||||||||||||||||||||||||||||||||||||||||||MNENLFASFIAPTILGLPAAVLIILFPPLLIPTSKYLINNRLITTQQWLIKLTSKQMMTMHNTKGRTWSLMLVSLIIFIATTNLLGLLPHSFTPTTQLSMNLAMAIPLWAGTVIMGFRSKIKNALAHFLPQGTPTPLIPMLVIIETISLLIQPMALAVRLTANITAGHLLMHLIGSATLAMSTINLPSTLIIFTILILLTILEIAVALIQAYVFTLLVSLYLHDNT||,C|missense_variant|MODERATE|MT-CO3|ENSG00000198938|Transcript|ENST00000362079|protein_coding|1/1||ENST00000362079.2:c.550T>C|ENSP00000354982.2:p.Ser184Pro|550|550|184|S/P|Tct/Cct|||1||SNV|HGNC|HGNC:7422|YES||||P1||ENSP00000354982|P00414.205|Q7GIM7.204|UPI0000000369||1|deleterious_low_confidence(0)|benign(0.108)|Gene3D:1.20.120.80&PDB-ENSP_mappings:5z62.C&Pfam:PF00510&PROSITE_profiles:PS50253&PANTHER:PTHR11403&Superfamily:SSF81452&CDD:cd01665|||||||||||||||||||||||||||||||||||||||||MTHQSHAYHMVKPSPWPLTGALSALLMTSGLAMWFHFHSMTLLMLGLLTNTLTMYQWWRDVTRESTYQGHHTPPVQKGLRYGMILFITSEVFFFAGFFWAFYHSSLAPTPQLGGHWPPTGITPLNPLEVPLLNTSVLLASGVSITWAHHSLMENNRNQMIQALLITILLGLYFTLLQASEYFESPFTISDGIYGSTFFVATGFHGLHVIIGSTFLTICFIRQLMFHFTSKHHFGFEAAAWYWHFVDVVWLFLYVSIYWWGS||,C|downstream_gene_variant|MODIFIER|MT-TW|ENSG00000210117|Transcript|ENST00000387382|Mt_tRNA|||||||||||4177|1||SNV|HGNC|HGNC:7501|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|MT-TA|ENSG00000210127|Transcript|ENST00000387392|Mt_tRNA|||||||||||4101|-1||SNV|HGNC|HGNC:7475|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|MT-TN|ENSG00000210135|Transcript|ENST00000387400|Mt_tRNA|||||||||||4027|-1||SNV|HGNC|HGNC:7493|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|MT-TC|ENSG00000210140|Transcript|ENST00000387405|Mt_tRNA|||||||||||3930|-1||SNV|HGNC|HGNC:7477|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|MT-TY|ENSG00000210144|Transcript|ENST00000387409|Mt_tRNA|||||||||||3865|-1||SNV|HGNC|HGNC:7502|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|MT-TS1|ENSG00000210151|Transcript|ENST00000387416|Mt_tRNA|||||||||||2242|-1||SNV|HGNC|HGNC:7497|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|MT-TD|ENSG00000210154|Transcript|ENST00000387419|Mt_tRNA|||||||||||2171|1||SNV|HGNC|HGNC:7478|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|MT-TK|ENSG00000210156|Transcript|ENST00000387421|Mt_tRNA|||||||||||1392|1||SNV|HGNC|HGNC:7489|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|MT-TG|ENSG00000210164|Transcript|ENST00000387429|Mt_tRNA|||||||||||235|1||SNV|HGNC|HGNC:7486|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|MT-TR|ENSG00000210174|Transcript|ENST00000387439|Mt_tRNA|||||||||||649|1||SNV|HGNC|HGNC:7496|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|MT-TH|ENSG00000210176|Transcript|ENST00000387441|Mt_tRNA|||||||||||2382|1||SNV|HGNC|HGNC:7487|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|MT-TS2|ENSG00000210184|Transcript|ENST00000387449|Mt_tRNA|||||||||||2451|1||SNV|HGNC|HGNC:7498|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|MT-TL2|ENSG00000210191|Transcript|ENST00000387456|Mt_tRNA|||||||||||2510|1||SNV|HGNC|HGNC:7491|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|MT-TE|ENSG00000210194|Transcript|ENST00000387459|Mt_tRNA|||||||||||4918|-1||SNV|HGNC|HGNC:7479|YES|||||||||||1|||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:36,2:0.095:38:0,0:18,1:18,1:18,18,1,1 -chrMT 9765 . A G . clustered_events;strand_bias;weak_evidence AS_FilterStatus=weak_evidence,strand_bias;AS_SB_TABLE=18%2C18|1%2C1;DP=38;ECNT=6;GERMQ=93;MBQ=33,34;MFRL=0,0;MMQ=42,30;MPOS=129;POPAF=7.3;TLOD=4.37;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER|MT-ND3|ENSG00000198840|Transcript|ENST00000361227|protein_coding||||||||||rs1603222489|294|1||SNV|HGNC|HGNC:7458|YES||||P1||ENSP00000355206|P03897.181|Q7GXZ5.214|UPI0000000AA6||1||||||||||||||||||||||||||||||||||uncertain_significance||1||||||||MNFALILMINTLLALLLMIITFWLPQLNGYMEKSTPYECGFDPMSPARVPFSMKFFLVAITFLLFDLEIALLLPLPWALQTTNLPLMVMSSLLLIIILALSLAYEWLQKGLDWTE||,G|upstream_gene_variant|MODIFIER|MT-ND4L|ENSG00000212907|Transcript|ENST00000361335|protein_coding||||||||||rs1603222489|705|1||SNV|HGNC|HGNC:7460|YES||||P1||ENSP00000354728|P03901.186|Q7GXZ4.219|UPI0000000AA7||1||||||||||||||||||||||||||||||||||uncertain_significance||1||||||||MPLIYMNIMLAFTISLLGMLVYRSHLMSSLLCLEGMMLSLFIMATLMTLNTHSLLANIVPIAMLVFAACEAAVGLALLVSISNTYGLDYVHNLNLLQC||,G|upstream_gene_variant|MODIFIER|MT-ND4|ENSG00000198886|Transcript|ENST00000361381|protein_coding||||||||||rs1603222489|995|1||SNV|HGNC|HGNC:7459|YES||||P1||ENSP00000354961|P03905.203|H9EC08.93|UPI0000000AA8||1||||||||||||||||||||||||||||||||||uncertain_significance||1||||||||MLKLIVPTIMLLPLTWLSKKHMIWINTTTHSLIISIIPLLFFNQINNNLFSCSPTFSSDPLTTPLLMLTTWLLPLTIMASQRHLSSEPLSRKKLYLSMLISLQISLIMTFTATELIMFYIFFETTLIPTLAIITRWGNQPERLNAGTYFLFYTLVGSLPLLIALIYTHNTLGSLNILLLTLTAQELSNSWANNLMWLAYTMAFMVKMPLYGLHLWLPKAHVEAPIAGSMVLAAVLLKLGGYGMMRLTLILNPLTKHMAYPFLVLSLWGMIMTSSICLRQTDLKSLIAYSSISHMALVVTAILIQTPWSFTGAVILMIAHGLTSSLLFCLANSNYERTHSRIMILSQGLQTLLPLMAFWWLLASLANLALPPTINLLGELSVLVTTFSWSNITLLLTGLNMLVTALYSLYMFTTTQWGSLTHHINNMKPSFTRENTLMFMHLSPILLLSLNPDIITGFSS||,G|downstream_gene_variant|MODIFIER|MT-ND2|ENSG00000198763|Transcript|ENST00000361453|protein_coding||||||||||rs1603222489|4254|1||SNV|HGNC|HGNC:7456|YES||||P1||ENSP00000355046|P03891.205|Q7GXY9.217|UPI0000000AA2||1||||||||||||||||||||||||||||||||||uncertain_significance||1||||||||INPLAQPVIYSTIFAGTLITALSSHWFFTWVGLEMNMLAFIPVLTKKMNPRSTEAAIKYFLTQATASMILLMAILFNNMLSGQWTMTNTTNQYSSLMIMMAMAMKLGMAPFHFWVPEVTQGTPLTSGLLLLTWQKLAPISIMYQISPSLNVSLLLTLSILSIMAGSWGGLNQTQLRKILAYSSITHMGWMMAVLPYNPNMTILNLTIYIILTTTAFLLLNLNSSTTTLLLSRTWNKLTWLTPLIPSTLLSLGGLPPLTGFLPKWAIIEEFTKNNSLIIPTIMATITLLNLYFYLRLIYSTSITLLPMSNNVKMKWQFEHTKPTPFLPTLIALTTLLLPISPFMLMIL||,G|upstream_gene_variant|MODIFIER|MT-ND5|ENSG00000198786|Transcript|ENST00000361567|protein_coding||||||||||rs1603222489|2572|1||SNV|HGNC|HGNC:7461|YES||||P1||ENSP00000354813|P03915.211|U5ZC31.85|UPI0000000A9D||1||||||||||||||||||||||||||||||||||uncertain_significance||1||||||||MTMHTTMTTLTLTSLIPPILTTLVNPNKKNSYPHYVKSIVASTFIISLFPTTMFMCLDQEVIISNWHWATTQTTQLSLSFKLDYFSMMFIPVALFVTWSIMEFSLWYMNSDPNINQFFKYLLIFLITMLILVTANNLFQLFIGWEGVGIMSFLLISWWYARADANTAAIQAILYNRIGDIGFILALAWFILHSNSWDPQQMALLNANPSLTPLLGLLLAAAGKSAQLGLHPWLPSAMEGPTPVSALLHSSTMVVAGIFLLIRFHPLAENSPLIQTLTLCLGAITTLFAAVCALTQNDIKKIVAFSTSSQLGLMMVTIGINQPHLAFLHICTHAFFKAMLFMCSGSIIHNLNNEQDIRKMGGLLKTMPLTSTSLTIGSLALAGMPFLTGFYSKDHIIETANMSYTNAWALSITLIATSLTSAYSTRMILLTLTGQPRFPTLTNINENNPTLLNPIKRLAAGSLFAGFLITNNISPASPFQTTIPLYLKLTALAVTFLGLLTALDLNYLTNKLKMKSPLCTFYFSNMLGFYPSITHRTIPYLGLLTSQNLPLLLLDLTWLEKLLPKTISQHQISTSIITSTQKGMIKLYFLSFFFPLILTLLLIT||,G|downstream_gene_variant|MODIFIER|MT-CO1|ENSG00000198804|Transcript|ENST00000361624|protein_coding||||||||||rs1603222489|2320|1||SNV|HGNC|HGNC:7419|YES||||P1||ENSP00000354499|P00395.219|U5YWV7.85|UPI0000000AA3||1||||||||||||||||||||||||||||||||||uncertain_significance||1||||||||MFADRWLFSTNHKDIGTLYLLFGAWAGVLGTALSLLIRAELGQPGNLLGNDHIYNVIVTAHAFVMIFFMVMPIMIGGFGNWLVPLMIGAPDMAFPRMNNMSFWLLPPSLLLLLASAMVEAGAGTGWTVYPPLAGNYSHPGASVDLTIFSLHLAGVSSILGAINFITTIINMKPPAMTQYQTPLFVWSVLITAVLLLLSLPVLAAGITMLLTDRNLNTTFFDPAGGGDPILYQHLFWFFGHPEVYILILPGFGMISHIVTYYSGKKEPFGYMGMVWAMMSIGFLGFIVWAHHMFTVGMDVDTRAYFTSATMIIAIPTGVKVFSWLATLHGSNMKWSAAVLWALGFIFLFTVGGLTGIVLANSSLDIVLHDTYYVVAHFHYVLSMGAVFAIMGGFIHWFPLFSGYTLDQTYAKIHFTIMFIGVNLTFFPQHFLGLSGMPRRYSDYPDAYTTWNILSSVGSFISLTAVMLMIFMIWEAFASKRKVLMVEEPSMNLEWLYGCPPPYHTFEEPVYMKS||,G|downstream_gene_variant|MODIFIER|MT-ND6|ENSG00000198695|Transcript|ENST00000361681|protein_coding||||||||||rs1603222489|4384|-1||SNV|HGNC|HGNC:7462|YES||||P1||ENSP00000354665|P03923.201|U5Z977.85|UPI0000000AA9||1||||||||||||||||||||||||||||||||||uncertain_significance||1||||||||MMYALFLLSVGLVMGFVGFSSKPSPIYGGLVLIVSGVVGCVIILNFGGGYMGLMVFLIYLGGMMVVFGYTTAMAIEEYPEAWGSGVEVLVSVLVGLAMEVGLVLWVKEYDGVVVVVNFNSVGSWMIYEGEGSGLIREDPIGAGALYDYGRWLVVVTGWTLFVGVYIVIEIARGN||,G|downstream_gene_variant|MODIFIER|MT-CO2|ENSG00000198712|Transcript|ENST00000361739|protein_coding||||||||||rs1603222489|1496|1||SNV|HGNC|HGNC:7421|YES||||P1||ENSP00000354876|P00403.224|U5Z487.85|UPI0000000AA4||1||||||||||||||||||||||||||||||||||uncertain_significance||1||||||||MAHAAQVGLQDATSPIMEELITFHDHALMIIFLICFLVLYALFLTLTTKLTNTNISDAQEMETVWTILPAIILVLIALPSLRILYMTDEVNDPSLTIKSIGHQWYWTYEYTDYGGLIFNSYMLPPLFLEPGDLRLLDVDNRVVLPIEAPIRMMITSQDVLHSWAVPTLGLKTDAIPGRLNQTTFTATRPGVYYGQCSEICGANHSFMPIVLELIPLKIFEMGPVFTL||,G|upstream_gene_variant|MODIFIER|MT-CYB|ENSG00000198727|Transcript|ENST00000361789|protein_coding||||||||||rs1603222489|4982|1||SNV|HGNC|HGNC:7427|YES||||P1||ENSP00000354554|P00156.226|Q0ZFD6.150|UPI0000DA7DCA||1||||||||||||||||||||||||||||||||||uncertain_significance||1||||||||MTPMRKTNPLMKLINHSFIDLPTPSNISAWWNFGSLLGACLILQITTGLFLAMHYSPDASTAFSSIAHITRDVNYGWIIRYLHANGASMFFICLFLHIGRGLYYGSFLYSETWNIGIILLLATMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTDLVQWIWGGYSVDSPTLTRFFTFHFILPFIIAALATLHLLFLHETGSNNPLGITSHSDKITFHPYYTIKDALGLLLFLLSLMTLTLFSPDLLGDPDNYTLANPLNTPPHIKPEWYFLFAYTILRSVPNKLGGVLALLLSILILAMIPILHMSKQQSMMFRPLSQSLYWLLAADLLILTWIGGQPVSYPFTIIGQVASVLYFTTILILMPTISLIENKMLKWA||,G|downstream_gene_variant|MODIFIER|MT-ATP8|ENSG00000228253|Transcript|ENST00000361851|protein_coding||||||||||rs1603222489|1193|1||SNV|HGNC|HGNC:7415|YES||||P1||ENSP00000355265|P03928.197|U5YV54.84|UPI0000000AA5||1||||||||||||||||||||||||||||||||||uncertain_significance||1||||||||MPQLNTTVWPTMITPMLLTLFLITQLKMLNTNYHLPPSPKPMKMKNYNKPWEPKWTKICSLHSLPPQS||,G|downstream_gene_variant|MODIFIER|MT-ATP6|ENSG00000198899|Transcript|ENST00000361899|protein_coding||||||||||rs1603222489|558|1||SNV|HGNC|HGNC:7414|YES||||P1||ENSP00000354632|P00846.213|Q0ZFE3.155|UPI0000001709||1||||||||||||||||||||||||||||||||||uncertain_significance||1||||||||MNENLFASFIAPTILGLPAAVLIILFPPLLIPTSKYLINNRLITTQQWLIKLTSKQMMTMHNTKGRTWSLMLVSLIIFIATTNLLGLLPHSFTPTTQLSMNLAMAIPLWAGTVIMGFRSKIKNALAHFLPQGTPTPLIPMLVIIETISLLIQPMALAVRLTANITAGHLLMHLIGSATLAMSTINLPSTLIIFTILILLTILEIAVALIQAYVFTLLVSLYLHDNT||,G|missense_variant|MODERATE|MT-CO3|ENSG00000198938|Transcript|ENST00000362079|protein_coding|1/1||ENST00000362079.2:c.559A>G|ENSP00000354982.2:p.Thr187Ala|559|559|187|T/A|Acc/Gcc|rs1603222489||1||SNV|HGNC|HGNC:7422|YES||||P1||ENSP00000354982|P00414.205|Q7GIM7.204|UPI0000000369||1|deleterious_low_confidence(0.04)|benign(0.005)|Gene3D:1.20.120.80&PDB-ENSP_mappings:5z62.C&Pfam:PF00510&PROSITE_profiles:PS50253&PANTHER:PTHR11403&Superfamily:SSF81452&CDD:cd01665|||||||||||||||||||||||||||||||uncertain_significance||1||||||||MTHQSHAYHMVKPSPWPLTGALSALLMTSGLAMWFHFHSMTLLMLGLLTNTLTMYQWWRDVTRESTYQGHHTPPVQKGLRYGMILFITSEVFFFAGFFWAFYHSSLAPTPQLGGHWPPTGITPLNPLEVPLLNTSVLLASGVSITWAHHSLMENNRNQMIQALLITILLGLYFTLLQASEYFESPFTISDGIYGSTFFVATGFHGLHVIIGSTFLTICFIRQLMFHFTSKHHFGFEAAAWYWHFVDVVWLFLYVSIYWWGS||,G|downstream_gene_variant|MODIFIER|MT-TW|ENSG00000210117|Transcript|ENST00000387382|Mt_tRNA||||||||||rs1603222489|4186|1||SNV|HGNC|HGNC:7501|YES|||||||||||1||||||||||||||||||||||||||||||||||uncertain_significance||1||||||||||,G|upstream_gene_variant|MODIFIER|MT-TA|ENSG00000210127|Transcript|ENST00000387392|Mt_tRNA||||||||||rs1603222489|4110|-1||SNV|HGNC|HGNC:7475|YES|||||||||||||||||||||||||||||||||||||||||||||uncertain_significance||1||||||||||,G|upstream_gene_variant|MODIFIER|MT-TN|ENSG00000210135|Transcript|ENST00000387400|Mt_tRNA||||||||||rs1603222489|4036|-1||SNV|HGNC|HGNC:7493|YES|||||||||||1||||||||||||||||||||||||||||||||||uncertain_significance||1||||||||||,G|upstream_gene_variant|MODIFIER|MT-TC|ENSG00000210140|Transcript|ENST00000387405|Mt_tRNA||||||||||rs1603222489|3939|-1||SNV|HGNC|HGNC:7477|YES|||||||||||||||||||||||||||||||||||||||||||||uncertain_significance||1||||||||||,G|upstream_gene_variant|MODIFIER|MT-TY|ENSG00000210144|Transcript|ENST00000387409|Mt_tRNA||||||||||rs1603222489|3874|-1||SNV|HGNC|HGNC:7502|YES|||||||||||||||||||||||||||||||||||||||||||||uncertain_significance||1||||||||||,G|upstream_gene_variant|MODIFIER|MT-TS1|ENSG00000210151|Transcript|ENST00000387416|Mt_tRNA||||||||||rs1603222489|2251|-1||SNV|HGNC|HGNC:7497|YES|||||||||||1||||||||||||||||||||||||||||||||||uncertain_significance||1||||||||||,G|downstream_gene_variant|MODIFIER|MT-TD|ENSG00000210154|Transcript|ENST00000387419|Mt_tRNA||||||||||rs1603222489|2180|1||SNV|HGNC|HGNC:7478|YES|||||||||||||||||||||||||||||||||||||||||||||uncertain_significance||1||||||||||,G|downstream_gene_variant|MODIFIER|MT-TK|ENSG00000210156|Transcript|ENST00000387421|Mt_tRNA||||||||||rs1603222489|1401|1||SNV|HGNC|HGNC:7489|YES|||||||||||1||||||||||||||||||||||||||||||||||uncertain_significance||1||||||||||,G|upstream_gene_variant|MODIFIER|MT-TG|ENSG00000210164|Transcript|ENST00000387429|Mt_tRNA||||||||||rs1603222489|226|1||SNV|HGNC|HGNC:7486|YES|||||||||||1||||||||||||||||||||||||||||||||||uncertain_significance||1||||||||||,G|upstream_gene_variant|MODIFIER|MT-TR|ENSG00000210174|Transcript|ENST00000387439|Mt_tRNA||||||||||rs1603222489|640|1||SNV|HGNC|HGNC:7496|YES|||||||||||||||||||||||||||||||||||||||||||||uncertain_significance||1||||||||||,G|upstream_gene_variant|MODIFIER|MT-TH|ENSG00000210176|Transcript|ENST00000387441|Mt_tRNA||||||||||rs1603222489|2373|1||SNV|HGNC|HGNC:7487|YES|||||||||||1||||||||||||||||||||||||||||||||||uncertain_significance||1||||||||||,G|upstream_gene_variant|MODIFIER|MT-TS2|ENSG00000210184|Transcript|ENST00000387449|Mt_tRNA||||||||||rs1603222489|2442|1||SNV|HGNC|HGNC:7498|YES|||||||||||1||||||||||||||||||||||||||||||||||uncertain_significance||1||||||||||,G|upstream_gene_variant|MODIFIER|MT-TL2|ENSG00000210191|Transcript|ENST00000387456|Mt_tRNA||||||||||rs1603222489|2501|1||SNV|HGNC|HGNC:7491|YES|||||||||||1||||||||||||||||||||||||||||||||||uncertain_significance||1||||||||||,G|downstream_gene_variant|MODIFIER|MT-TE|ENSG00000210194|Transcript|ENST00000387459|Mt_tRNA||||||||||rs1603222489|4909|-1||SNV|HGNC|HGNC:7479|YES|||||||||||1||||||||||||||||||||||||||||||||||uncertain_significance||1|||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:36,2:0.095:38:0,0:18,1:18,1:18,18,1,1 -chrMT 9766 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=17%2C14|1%2C1;DP=33;ECNT=4;GERMQ=39;MBQ=34,33;MFRL=0,0;MMQ=41,36;MPOS=131;POPAF=7.3;TLOD=4.92;SRC=custom;GRP=custom;CSQ=T|upstream_gene_variant|MODIFIER|MT-ND3|ENSG00000198840|Transcript|ENST00000361227|protein_coding|||||||||||293|1||SNV|HGNC|HGNC:7458|YES||||P1||ENSP00000355206|P03897.181|Q7GXZ5.214|UPI0000000AA6||1||||||||||||||||||||||||||||||||||||||||||||MNFALILMINTLLALLLMIITFWLPQLNGYMEKSTPYECGFDPMSPARVPFSMKFFLVAITFLLFDLEIALLLPLPWALQTTNLPLMVMSSLLLIIILALSLAYEWLQKGLDWTE||,T|upstream_gene_variant|MODIFIER|MT-ND4L|ENSG00000212907|Transcript|ENST00000361335|protein_coding|||||||||||704|1||SNV|HGNC|HGNC:7460|YES||||P1||ENSP00000354728|P03901.186|Q7GXZ4.219|UPI0000000AA7||1||||||||||||||||||||||||||||||||||||||||||||MPLIYMNIMLAFTISLLGMLVYRSHLMSSLLCLEGMMLSLFIMATLMTLNTHSLLANIVPIAMLVFAACEAAVGLALLVSISNTYGLDYVHNLNLLQC||,T|upstream_gene_variant|MODIFIER|MT-ND4|ENSG00000198886|Transcript|ENST00000361381|protein_coding|||||||||||994|1||SNV|HGNC|HGNC:7459|YES||||P1||ENSP00000354961|P03905.203|H9EC08.93|UPI0000000AA8||1||||||||||||||||||||||||||||||||||||||||||||MLKLIVPTIMLLPLTWLSKKHMIWINTTTHSLIISIIPLLFFNQINNNLFSCSPTFSSDPLTTPLLMLTTWLLPLTIMASQRHLSSEPLSRKKLYLSMLISLQISLIMTFTATELIMFYIFFETTLIPTLAIITRWGNQPERLNAGTYFLFYTLVGSLPLLIALIYTHNTLGSLNILLLTLTAQELSNSWANNLMWLAYTMAFMVKMPLYGLHLWLPKAHVEAPIAGSMVLAAVLLKLGGYGMMRLTLILNPLTKHMAYPFLVLSLWGMIMTSSICLRQTDLKSLIAYSSISHMALVVTAILIQTPWSFTGAVILMIAHGLTSSLLFCLANSNYERTHSRIMILSQGLQTLLPLMAFWWLLASLANLALPPTINLLGELSVLVTTFSWSNITLLLTGLNMLVTALYSLYMFTTTQWGSLTHHINNMKPSFTRENTLMFMHLSPILLLSLNPDIITGFSS||,T|downstream_gene_variant|MODIFIER|MT-ND2|ENSG00000198763|Transcript|ENST00000361453|protein_coding|||||||||||4255|1||SNV|HGNC|HGNC:7456|YES||||P1||ENSP00000355046|P03891.205|Q7GXY9.217|UPI0000000AA2||1||||||||||||||||||||||||||||||||||||||||||||INPLAQPVIYSTIFAGTLITALSSHWFFTWVGLEMNMLAFIPVLTKKMNPRSTEAAIKYFLTQATASMILLMAILFNNMLSGQWTMTNTTNQYSSLMIMMAMAMKLGMAPFHFWVPEVTQGTPLTSGLLLLTWQKLAPISIMYQISPSLNVSLLLTLSILSIMAGSWGGLNQTQLRKILAYSSITHMGWMMAVLPYNPNMTILNLTIYIILTTTAFLLLNLNSSTTTLLLSRTWNKLTWLTPLIPSTLLSLGGLPPLTGFLPKWAIIEEFTKNNSLIIPTIMATITLLNLYFYLRLIYSTSITLLPMSNNVKMKWQFEHTKPTPFLPTLIALTTLLLPISPFMLMIL||,T|upstream_gene_variant|MODIFIER|MT-ND5|ENSG00000198786|Transcript|ENST00000361567|protein_coding|||||||||||2571|1||SNV|HGNC|HGNC:7461|YES||||P1||ENSP00000354813|P03915.211|U5ZC31.85|UPI0000000A9D||1||||||||||||||||||||||||||||||||||||||||||||MTMHTTMTTLTLTSLIPPILTTLVNPNKKNSYPHYVKSIVASTFIISLFPTTMFMCLDQEVIISNWHWATTQTTQLSLSFKLDYFSMMFIPVALFVTWSIMEFSLWYMNSDPNINQFFKYLLIFLITMLILVTANNLFQLFIGWEGVGIMSFLLISWWYARADANTAAIQAILYNRIGDIGFILALAWFILHSNSWDPQQMALLNANPSLTPLLGLLLAAAGKSAQLGLHPWLPSAMEGPTPVSALLHSSTMVVAGIFLLIRFHPLAENSPLIQTLTLCLGAITTLFAAVCALTQNDIKKIVAFSTSSQLGLMMVTIGINQPHLAFLHICTHAFFKAMLFMCSGSIIHNLNNEQDIRKMGGLLKTMPLTSTSLTIGSLALAGMPFLTGFYSKDHIIETANMSYTNAWALSITLIATSLTSAYSTRMILLTLTGQPRFPTLTNINENNPTLLNPIKRLAAGSLFAGFLITNNISPASPFQTTIPLYLKLTALAVTFLGLLTALDLNYLTNKLKMKSPLCTFYFSNMLGFYPSITHRTIPYLGLLTSQNLPLLLLDLTWLEKLLPKTISQHQISTSIITSTQKGMIKLYFLSFFFPLILTLLLIT||,T|downstream_gene_variant|MODIFIER|MT-CO1|ENSG00000198804|Transcript|ENST00000361624|protein_coding|||||||||||2321|1||SNV|HGNC|HGNC:7419|YES||||P1||ENSP00000354499|P00395.219|U5YWV7.85|UPI0000000AA3||1||||||||||||||||||||||||||||||||||||||||||||MFADRWLFSTNHKDIGTLYLLFGAWAGVLGTALSLLIRAELGQPGNLLGNDHIYNVIVTAHAFVMIFFMVMPIMIGGFGNWLVPLMIGAPDMAFPRMNNMSFWLLPPSLLLLLASAMVEAGAGTGWTVYPPLAGNYSHPGASVDLTIFSLHLAGVSSILGAINFITTIINMKPPAMTQYQTPLFVWSVLITAVLLLLSLPVLAAGITMLLTDRNLNTTFFDPAGGGDPILYQHLFWFFGHPEVYILILPGFGMISHIVTYYSGKKEPFGYMGMVWAMMSIGFLGFIVWAHHMFTVGMDVDTRAYFTSATMIIAIPTGVKVFSWLATLHGSNMKWSAAVLWALGFIFLFTVGGLTGIVLANSSLDIVLHDTYYVVAHFHYVLSMGAVFAIMGGFIHWFPLFSGYTLDQTYAKIHFTIMFIGVNLTFFPQHFLGLSGMPRRYSDYPDAYTTWNILSSVGSFISLTAVMLMIFMIWEAFASKRKVLMVEEPSMNLEWLYGCPPPYHTFEEPVYMKS||,T|downstream_gene_variant|MODIFIER|MT-ND6|ENSG00000198695|Transcript|ENST00000361681|protein_coding|||||||||||4383|-1||SNV|HGNC|HGNC:7462|YES||||P1||ENSP00000354665|P03923.201|U5Z977.85|UPI0000000AA9||1||||||||||||||||||||||||||||||||||||||||||||MMYALFLLSVGLVMGFVGFSSKPSPIYGGLVLIVSGVVGCVIILNFGGGYMGLMVFLIYLGGMMVVFGYTTAMAIEEYPEAWGSGVEVLVSVLVGLAMEVGLVLWVKEYDGVVVVVNFNSVGSWMIYEGEGSGLIREDPIGAGALYDYGRWLVVVTGWTLFVGVYIVIEIARGN||,T|downstream_gene_variant|MODIFIER|MT-CO2|ENSG00000198712|Transcript|ENST00000361739|protein_coding|||||||||||1497|1||SNV|HGNC|HGNC:7421|YES||||P1||ENSP00000354876|P00403.224|U5Z487.85|UPI0000000AA4||1||||||||||||||||||||||||||||||||||||||||||||MAHAAQVGLQDATSPIMEELITFHDHALMIIFLICFLVLYALFLTLTTKLTNTNISDAQEMETVWTILPAIILVLIALPSLRILYMTDEVNDPSLTIKSIGHQWYWTYEYTDYGGLIFNSYMLPPLFLEPGDLRLLDVDNRVVLPIEAPIRMMITSQDVLHSWAVPTLGLKTDAIPGRLNQTTFTATRPGVYYGQCSEICGANHSFMPIVLELIPLKIFEMGPVFTL||,T|upstream_gene_variant|MODIFIER|MT-CYB|ENSG00000198727|Transcript|ENST00000361789|protein_coding|||||||||||4981|1||SNV|HGNC|HGNC:7427|YES||||P1||ENSP00000354554|P00156.226|Q0ZFD6.150|UPI0000DA7DCA||1||||||||||||||||||||||||||||||||||||||||||||MTPMRKTNPLMKLINHSFIDLPTPSNISAWWNFGSLLGACLILQITTGLFLAMHYSPDASTAFSSIAHITRDVNYGWIIRYLHANGASMFFICLFLHIGRGLYYGSFLYSETWNIGIILLLATMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTDLVQWIWGGYSVDSPTLTRFFTFHFILPFIIAALATLHLLFLHETGSNNPLGITSHSDKITFHPYYTIKDALGLLLFLLSLMTLTLFSPDLLGDPDNYTLANPLNTPPHIKPEWYFLFAYTILRSVPNKLGGVLALLLSILILAMIPILHMSKQQSMMFRPLSQSLYWLLAADLLILTWIGGQPVSYPFTIIGQVASVLYFTTILILMPTISLIENKMLKWA||,T|downstream_gene_variant|MODIFIER|MT-ATP8|ENSG00000228253|Transcript|ENST00000361851|protein_coding|||||||||||1194|1||SNV|HGNC|HGNC:7415|YES||||P1||ENSP00000355265|P03928.197|U5YV54.84|UPI0000000AA5||1||||||||||||||||||||||||||||||||||||||||||||MPQLNTTVWPTMITPMLLTLFLITQLKMLNTNYHLPPSPKPMKMKNYNKPWEPKWTKICSLHSLPPQS||,T|downstream_gene_variant|MODIFIER|MT-ATP6|ENSG00000198899|Transcript|ENST00000361899|protein_coding|||||||||||559|1||SNV|HGNC|HGNC:7414|YES||||P1||ENSP00000354632|P00846.213|Q0ZFE3.155|UPI0000001709||1||||||||||||||||||||||||||||||||||||||||||||MNENLFASFIAPTILGLPAAVLIILFPPLLIPTSKYLINNRLITTQQWLIKLTSKQMMTMHNTKGRTWSLMLVSLIIFIATTNLLGLLPHSFTPTTQLSMNLAMAIPLWAGTVIMGFRSKIKNALAHFLPQGTPTPLIPMLVIIETISLLIQPMALAVRLTANITAGHLLMHLIGSATLAMSTINLPSTLIIFTILILLTILEIAVALIQAYVFTLLVSLYLHDNT||,T|missense_variant|MODERATE|MT-CO3|ENSG00000198938|Transcript|ENST00000362079|protein_coding|1/1||ENST00000362079.2:c.560C>T|ENSP00000354982.2:p.Thr187Ile|560|560|187|T/I|aCc/aTc|||1||SNV|HGNC|HGNC:7422|YES||||P1||ENSP00000354982|P00414.205|Q7GIM7.204|UPI0000000369||1|deleterious_low_confidence(0)|benign(0.201)|Gene3D:1.20.120.80&PDB-ENSP_mappings:5z62.C&Pfam:PF00510&PROSITE_profiles:PS50253&PANTHER:PTHR11403&Superfamily:SSF81452&CDD:cd01665|||||||||||||||||||||||||||||||||||||||||MTHQSHAYHMVKPSPWPLTGALSALLMTSGLAMWFHFHSMTLLMLGLLTNTLTMYQWWRDVTRESTYQGHHTPPVQKGLRYGMILFITSEVFFFAGFFWAFYHSSLAPTPQLGGHWPPTGITPLNPLEVPLLNTSVLLASGVSITWAHHSLMENNRNQMIQALLITILLGLYFTLLQASEYFESPFTISDGIYGSTFFVATGFHGLHVIIGSTFLTICFIRQLMFHFTSKHHFGFEAAAWYWHFVDVVWLFLYVSIYWWGS||,T|downstream_gene_variant|MODIFIER|MT-TW|ENSG00000210117|Transcript|ENST00000387382|Mt_tRNA|||||||||||4187|1||SNV|HGNC|HGNC:7501|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|MT-TA|ENSG00000210127|Transcript|ENST00000387392|Mt_tRNA|||||||||||4111|-1||SNV|HGNC|HGNC:7475|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|MT-TN|ENSG00000210135|Transcript|ENST00000387400|Mt_tRNA|||||||||||4037|-1||SNV|HGNC|HGNC:7493|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|MT-TC|ENSG00000210140|Transcript|ENST00000387405|Mt_tRNA|||||||||||3940|-1||SNV|HGNC|HGNC:7477|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|MT-TY|ENSG00000210144|Transcript|ENST00000387409|Mt_tRNA|||||||||||3875|-1||SNV|HGNC|HGNC:7502|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|MT-TS1|ENSG00000210151|Transcript|ENST00000387416|Mt_tRNA|||||||||||2252|-1||SNV|HGNC|HGNC:7497|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|MT-TD|ENSG00000210154|Transcript|ENST00000387419|Mt_tRNA|||||||||||2181|1||SNV|HGNC|HGNC:7478|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|MT-TK|ENSG00000210156|Transcript|ENST00000387421|Mt_tRNA|||||||||||1402|1||SNV|HGNC|HGNC:7489|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|MT-TG|ENSG00000210164|Transcript|ENST00000387429|Mt_tRNA|||||||||||225|1||SNV|HGNC|HGNC:7486|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|MT-TR|ENSG00000210174|Transcript|ENST00000387439|Mt_tRNA|||||||||||639|1||SNV|HGNC|HGNC:7496|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|MT-TH|ENSG00000210176|Transcript|ENST00000387441|Mt_tRNA|||||||||||2372|1||SNV|HGNC|HGNC:7487|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|MT-TS2|ENSG00000210184|Transcript|ENST00000387449|Mt_tRNA|||||||||||2441|1||SNV|HGNC|HGNC:7498|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|MT-TL2|ENSG00000210191|Transcript|ENST00000387456|Mt_tRNA|||||||||||2500|1||SNV|HGNC|HGNC:7491|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|MT-TE|ENSG00000210194|Transcript|ENST00000387459|Mt_tRNA|||||||||||4908|-1||SNV|HGNC|HGNC:7479|YES|||||||||||1|||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:31,2:0.1:33:0,0:16,1:17,1:17,14,1,1 -chrMT 9771 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=16%2C13|1%2C1;DP=33;ECNT=4;GERMQ=34;MBQ=33,32;MFRL=0,0;MMQ=41,38;MPOS=121;POPAF=7.3;TLOD=4.86;SRC=custom;GRP=custom;CSQ=C|upstream_gene_variant|MODIFIER|MT-ND3|ENSG00000198840|Transcript|ENST00000361227|protein_coding||||||||||rs2124595726|288|1||SNV|HGNC|HGNC:7458|YES||||P1||ENSP00000355206|P03897.181|Q7GXZ5.214|UPI0000000AA6||1||||||||||||||||||||||||||||||||||||||||||||MNFALILMINTLLALLLMIITFWLPQLNGYMEKSTPYECGFDPMSPARVPFSMKFFLVAITFLLFDLEIALLLPLPWALQTTNLPLMVMSSLLLIIILALSLAYEWLQKGLDWTE||,C|upstream_gene_variant|MODIFIER|MT-ND4L|ENSG00000212907|Transcript|ENST00000361335|protein_coding||||||||||rs2124595726|699|1||SNV|HGNC|HGNC:7460|YES||||P1||ENSP00000354728|P03901.186|Q7GXZ4.219|UPI0000000AA7||1||||||||||||||||||||||||||||||||||||||||||||MPLIYMNIMLAFTISLLGMLVYRSHLMSSLLCLEGMMLSLFIMATLMTLNTHSLLANIVPIAMLVFAACEAAVGLALLVSISNTYGLDYVHNLNLLQC||,C|upstream_gene_variant|MODIFIER|MT-ND4|ENSG00000198886|Transcript|ENST00000361381|protein_coding||||||||||rs2124595726|989|1||SNV|HGNC|HGNC:7459|YES||||P1||ENSP00000354961|P03905.203|H9EC08.93|UPI0000000AA8||1||||||||||||||||||||||||||||||||||||||||||||MLKLIVPTIMLLPLTWLSKKHMIWINTTTHSLIISIIPLLFFNQINNNLFSCSPTFSSDPLTTPLLMLTTWLLPLTIMASQRHLSSEPLSRKKLYLSMLISLQISLIMTFTATELIMFYIFFETTLIPTLAIITRWGNQPERLNAGTYFLFYTLVGSLPLLIALIYTHNTLGSLNILLLTLTAQELSNSWANNLMWLAYTMAFMVKMPLYGLHLWLPKAHVEAPIAGSMVLAAVLLKLGGYGMMRLTLILNPLTKHMAYPFLVLSLWGMIMTSSICLRQTDLKSLIAYSSISHMALVVTAILIQTPWSFTGAVILMIAHGLTSSLLFCLANSNYERTHSRIMILSQGLQTLLPLMAFWWLLASLANLALPPTINLLGELSVLVTTFSWSNITLLLTGLNMLVTALYSLYMFTTTQWGSLTHHINNMKPSFTRENTLMFMHLSPILLLSLNPDIITGFSS||,C|downstream_gene_variant|MODIFIER|MT-ND2|ENSG00000198763|Transcript|ENST00000361453|protein_coding||||||||||rs2124595726|4260|1||SNV|HGNC|HGNC:7456|YES||||P1||ENSP00000355046|P03891.205|Q7GXY9.217|UPI0000000AA2||1||||||||||||||||||||||||||||||||||||||||||||INPLAQPVIYSTIFAGTLITALSSHWFFTWVGLEMNMLAFIPVLTKKMNPRSTEAAIKYFLTQATASMILLMAILFNNMLSGQWTMTNTTNQYSSLMIMMAMAMKLGMAPFHFWVPEVTQGTPLTSGLLLLTWQKLAPISIMYQISPSLNVSLLLTLSILSIMAGSWGGLNQTQLRKILAYSSITHMGWMMAVLPYNPNMTILNLTIYIILTTTAFLLLNLNSSTTTLLLSRTWNKLTWLTPLIPSTLLSLGGLPPLTGFLPKWAIIEEFTKNNSLIIPTIMATITLLNLYFYLRLIYSTSITLLPMSNNVKMKWQFEHTKPTPFLPTLIALTTLLLPISPFMLMIL||,C|upstream_gene_variant|MODIFIER|MT-ND5|ENSG00000198786|Transcript|ENST00000361567|protein_coding||||||||||rs2124595726|2566|1||SNV|HGNC|HGNC:7461|YES||||P1||ENSP00000354813|P03915.211|U5ZC31.85|UPI0000000A9D||1||||||||||||||||||||||||||||||||||||||||||||MTMHTTMTTLTLTSLIPPILTTLVNPNKKNSYPHYVKSIVASTFIISLFPTTMFMCLDQEVIISNWHWATTQTTQLSLSFKLDYFSMMFIPVALFVTWSIMEFSLWYMNSDPNINQFFKYLLIFLITMLILVTANNLFQLFIGWEGVGIMSFLLISWWYARADANTAAIQAILYNRIGDIGFILALAWFILHSNSWDPQQMALLNANPSLTPLLGLLLAAAGKSAQLGLHPWLPSAMEGPTPVSALLHSSTMVVAGIFLLIRFHPLAENSPLIQTLTLCLGAITTLFAAVCALTQNDIKKIVAFSTSSQLGLMMVTIGINQPHLAFLHICTHAFFKAMLFMCSGSIIHNLNNEQDIRKMGGLLKTMPLTSTSLTIGSLALAGMPFLTGFYSKDHIIETANMSYTNAWALSITLIATSLTSAYSTRMILLTLTGQPRFPTLTNINENNPTLLNPIKRLAAGSLFAGFLITNNISPASPFQTTIPLYLKLTALAVTFLGLLTALDLNYLTNKLKMKSPLCTFYFSNMLGFYPSITHRTIPYLGLLTSQNLPLLLLDLTWLEKLLPKTISQHQISTSIITSTQKGMIKLYFLSFFFPLILTLLLIT||,C|downstream_gene_variant|MODIFIER|MT-CO1|ENSG00000198804|Transcript|ENST00000361624|protein_coding||||||||||rs2124595726|2326|1||SNV|HGNC|HGNC:7419|YES||||P1||ENSP00000354499|P00395.219|U5YWV7.85|UPI0000000AA3||1||||||||||||||||||||||||||||||||||||||||||||MFADRWLFSTNHKDIGTLYLLFGAWAGVLGTALSLLIRAELGQPGNLLGNDHIYNVIVTAHAFVMIFFMVMPIMIGGFGNWLVPLMIGAPDMAFPRMNNMSFWLLPPSLLLLLASAMVEAGAGTGWTVYPPLAGNYSHPGASVDLTIFSLHLAGVSSILGAINFITTIINMKPPAMTQYQTPLFVWSVLITAVLLLLSLPVLAAGITMLLTDRNLNTTFFDPAGGGDPILYQHLFWFFGHPEVYILILPGFGMISHIVTYYSGKKEPFGYMGMVWAMMSIGFLGFIVWAHHMFTVGMDVDTRAYFTSATMIIAIPTGVKVFSWLATLHGSNMKWSAAVLWALGFIFLFTVGGLTGIVLANSSLDIVLHDTYYVVAHFHYVLSMGAVFAIMGGFIHWFPLFSGYTLDQTYAKIHFTIMFIGVNLTFFPQHFLGLSGMPRRYSDYPDAYTTWNILSSVGSFISLTAVMLMIFMIWEAFASKRKVLMVEEPSMNLEWLYGCPPPYHTFEEPVYMKS||,C|downstream_gene_variant|MODIFIER|MT-ND6|ENSG00000198695|Transcript|ENST00000361681|protein_coding||||||||||rs2124595726|4378|-1||SNV|HGNC|HGNC:7462|YES||||P1||ENSP00000354665|P03923.201|U5Z977.85|UPI0000000AA9||1||||||||||||||||||||||||||||||||||||||||||||MMYALFLLSVGLVMGFVGFSSKPSPIYGGLVLIVSGVVGCVIILNFGGGYMGLMVFLIYLGGMMVVFGYTTAMAIEEYPEAWGSGVEVLVSVLVGLAMEVGLVLWVKEYDGVVVVVNFNSVGSWMIYEGEGSGLIREDPIGAGALYDYGRWLVVVTGWTLFVGVYIVIEIARGN||,C|downstream_gene_variant|MODIFIER|MT-CO2|ENSG00000198712|Transcript|ENST00000361739|protein_coding||||||||||rs2124595726|1502|1||SNV|HGNC|HGNC:7421|YES||||P1||ENSP00000354876|P00403.224|U5Z487.85|UPI0000000AA4||1||||||||||||||||||||||||||||||||||||||||||||MAHAAQVGLQDATSPIMEELITFHDHALMIIFLICFLVLYALFLTLTTKLTNTNISDAQEMETVWTILPAIILVLIALPSLRILYMTDEVNDPSLTIKSIGHQWYWTYEYTDYGGLIFNSYMLPPLFLEPGDLRLLDVDNRVVLPIEAPIRMMITSQDVLHSWAVPTLGLKTDAIPGRLNQTTFTATRPGVYYGQCSEICGANHSFMPIVLELIPLKIFEMGPVFTL||,C|upstream_gene_variant|MODIFIER|MT-CYB|ENSG00000198727|Transcript|ENST00000361789|protein_coding||||||||||rs2124595726|4976|1||SNV|HGNC|HGNC:7427|YES||||P1||ENSP00000354554|P00156.226|Q0ZFD6.150|UPI0000DA7DCA||1||||||||||||||||||||||||||||||||||||||||||||MTPMRKTNPLMKLINHSFIDLPTPSNISAWWNFGSLLGACLILQITTGLFLAMHYSPDASTAFSSIAHITRDVNYGWIIRYLHANGASMFFICLFLHIGRGLYYGSFLYSETWNIGIILLLATMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTDLVQWIWGGYSVDSPTLTRFFTFHFILPFIIAALATLHLLFLHETGSNNPLGITSHSDKITFHPYYTIKDALGLLLFLLSLMTLTLFSPDLLGDPDNYTLANPLNTPPHIKPEWYFLFAYTILRSVPNKLGGVLALLLSILILAMIPILHMSKQQSMMFRPLSQSLYWLLAADLLILTWIGGQPVSYPFTIIGQVASVLYFTTILILMPTISLIENKMLKWA||,C|downstream_gene_variant|MODIFIER|MT-ATP8|ENSG00000228253|Transcript|ENST00000361851|protein_coding||||||||||rs2124595726|1199|1||SNV|HGNC|HGNC:7415|YES||||P1||ENSP00000355265|P03928.197|U5YV54.84|UPI0000000AA5||1||||||||||||||||||||||||||||||||||||||||||||MPQLNTTVWPTMITPMLLTLFLITQLKMLNTNYHLPPSPKPMKMKNYNKPWEPKWTKICSLHSLPPQS||,C|downstream_gene_variant|MODIFIER|MT-ATP6|ENSG00000198899|Transcript|ENST00000361899|protein_coding||||||||||rs2124595726|564|1||SNV|HGNC|HGNC:7414|YES||||P1||ENSP00000354632|P00846.213|Q0ZFE3.155|UPI0000001709||1||||||||||||||||||||||||||||||||||||||||||||MNENLFASFIAPTILGLPAAVLIILFPPLLIPTSKYLINNRLITTQQWLIKLTSKQMMTMHNTKGRTWSLMLVSLIIFIATTNLLGLLPHSFTPTTQLSMNLAMAIPLWAGTVIMGFRSKIKNALAHFLPQGTPTPLIPMLVIIETISLLIQPMALAVRLTANITAGHLLMHLIGSATLAMSTINLPSTLIIFTILILLTILEIAVALIQAYVFTLLVSLYLHDNT||,C|missense_variant|MODERATE|MT-CO3|ENSG00000198938|Transcript|ENST00000362079|protein_coding|1/1||ENST00000362079.2:c.565T>C|ENSP00000354982.2:p.Ser189Pro|565|565|189|S/P|Tcc/Ccc|rs2124595726||1||SNV|HGNC|HGNC:7422|YES||||P1||ENSP00000354982|P00414.205|Q7GIM7.204|UPI0000000369||1|deleterious_low_confidence(0)|probably_damaging(0.971)|Gene3D:1.20.120.80&PDB-ENSP_mappings:5z62.C&Pfam:PF00510&PROSITE_profiles:PS50253&PANTHER:PTHR11403&Superfamily:SSF81452&CDD:cd01665|||||||||||||||||||||||||||||||||||||||||MTHQSHAYHMVKPSPWPLTGALSALLMTSGLAMWFHFHSMTLLMLGLLTNTLTMYQWWRDVTRESTYQGHHTPPVQKGLRYGMILFITSEVFFFAGFFWAFYHSSLAPTPQLGGHWPPTGITPLNPLEVPLLNTSVLLASGVSITWAHHSLMENNRNQMIQALLITILLGLYFTLLQASEYFESPFTISDGIYGSTFFVATGFHGLHVIIGSTFLTICFIRQLMFHFTSKHHFGFEAAAWYWHFVDVVWLFLYVSIYWWGS||,C|downstream_gene_variant|MODIFIER|MT-TW|ENSG00000210117|Transcript|ENST00000387382|Mt_tRNA||||||||||rs2124595726|4192|1||SNV|HGNC|HGNC:7501|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|MT-TA|ENSG00000210127|Transcript|ENST00000387392|Mt_tRNA||||||||||rs2124595726|4116|-1||SNV|HGNC|HGNC:7475|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|MT-TN|ENSG00000210135|Transcript|ENST00000387400|Mt_tRNA||||||||||rs2124595726|4042|-1||SNV|HGNC|HGNC:7493|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|MT-TC|ENSG00000210140|Transcript|ENST00000387405|Mt_tRNA||||||||||rs2124595726|3945|-1||SNV|HGNC|HGNC:7477|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|MT-TY|ENSG00000210144|Transcript|ENST00000387409|Mt_tRNA||||||||||rs2124595726|3880|-1||SNV|HGNC|HGNC:7502|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|MT-TS1|ENSG00000210151|Transcript|ENST00000387416|Mt_tRNA||||||||||rs2124595726|2257|-1||SNV|HGNC|HGNC:7497|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|MT-TD|ENSG00000210154|Transcript|ENST00000387419|Mt_tRNA||||||||||rs2124595726|2186|1||SNV|HGNC|HGNC:7478|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|MT-TK|ENSG00000210156|Transcript|ENST00000387421|Mt_tRNA||||||||||rs2124595726|1407|1||SNV|HGNC|HGNC:7489|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|MT-TG|ENSG00000210164|Transcript|ENST00000387429|Mt_tRNA||||||||||rs2124595726|220|1||SNV|HGNC|HGNC:7486|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|MT-TR|ENSG00000210174|Transcript|ENST00000387439|Mt_tRNA||||||||||rs2124595726|634|1||SNV|HGNC|HGNC:7496|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|MT-TH|ENSG00000210176|Transcript|ENST00000387441|Mt_tRNA||||||||||rs2124595726|2367|1||SNV|HGNC|HGNC:7487|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|MT-TS2|ENSG00000210184|Transcript|ENST00000387449|Mt_tRNA||||||||||rs2124595726|2436|1||SNV|HGNC|HGNC:7498|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|MT-TL2|ENSG00000210191|Transcript|ENST00000387456|Mt_tRNA||||||||||rs2124595726|2495|1||SNV|HGNC|HGNC:7491|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|MT-TE|ENSG00000210194|Transcript|ENST00000387459|Mt_tRNA||||||||||rs2124595726|4903|-1||SNV|HGNC|HGNC:7479|YES|||||||||||1|||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:29,2:0.104:31:0,0:16,1:16,1:16,13,1,1 -chrMT 9771 . T C . clustered_events;strand_bias;weak_evidence AS_FilterStatus=weak_evidence,strand_bias;AS_SB_TABLE=18%2C18|1%2C1;DP=38;ECNT=6;GERMQ=93;MBQ=33,34;MFRL=0,0;MMQ=42,40;MPOS=101;POPAF=7.3;TLOD=5.07;SRC=custom;GRP=custom;CSQ=C|upstream_gene_variant|MODIFIER|MT-ND3|ENSG00000198840|Transcript|ENST00000361227|protein_coding||||||||||rs2124595726|288|1||SNV|HGNC|HGNC:7458|YES||||P1||ENSP00000355206|P03897.181|Q7GXZ5.214|UPI0000000AA6||1||||||||||||||||||||||||||||||||||||||||||||MNFALILMINTLLALLLMIITFWLPQLNGYMEKSTPYECGFDPMSPARVPFSMKFFLVAITFLLFDLEIALLLPLPWALQTTNLPLMVMSSLLLIIILALSLAYEWLQKGLDWTE||,C|upstream_gene_variant|MODIFIER|MT-ND4L|ENSG00000212907|Transcript|ENST00000361335|protein_coding||||||||||rs2124595726|699|1||SNV|HGNC|HGNC:7460|YES||||P1||ENSP00000354728|P03901.186|Q7GXZ4.219|UPI0000000AA7||1||||||||||||||||||||||||||||||||||||||||||||MPLIYMNIMLAFTISLLGMLVYRSHLMSSLLCLEGMMLSLFIMATLMTLNTHSLLANIVPIAMLVFAACEAAVGLALLVSISNTYGLDYVHNLNLLQC||,C|upstream_gene_variant|MODIFIER|MT-ND4|ENSG00000198886|Transcript|ENST00000361381|protein_coding||||||||||rs2124595726|989|1||SNV|HGNC|HGNC:7459|YES||||P1||ENSP00000354961|P03905.203|H9EC08.93|UPI0000000AA8||1||||||||||||||||||||||||||||||||||||||||||||MLKLIVPTIMLLPLTWLSKKHMIWINTTTHSLIISIIPLLFFNQINNNLFSCSPTFSSDPLTTPLLMLTTWLLPLTIMASQRHLSSEPLSRKKLYLSMLISLQISLIMTFTATELIMFYIFFETTLIPTLAIITRWGNQPERLNAGTYFLFYTLVGSLPLLIALIYTHNTLGSLNILLLTLTAQELSNSWANNLMWLAYTMAFMVKMPLYGLHLWLPKAHVEAPIAGSMVLAAVLLKLGGYGMMRLTLILNPLTKHMAYPFLVLSLWGMIMTSSICLRQTDLKSLIAYSSISHMALVVTAILIQTPWSFTGAVILMIAHGLTSSLLFCLANSNYERTHSRIMILSQGLQTLLPLMAFWWLLASLANLALPPTINLLGELSVLVTTFSWSNITLLLTGLNMLVTALYSLYMFTTTQWGSLTHHINNMKPSFTRENTLMFMHLSPILLLSLNPDIITGFSS||,C|downstream_gene_variant|MODIFIER|MT-ND2|ENSG00000198763|Transcript|ENST00000361453|protein_coding||||||||||rs2124595726|4260|1||SNV|HGNC|HGNC:7456|YES||||P1||ENSP00000355046|P03891.205|Q7GXY9.217|UPI0000000AA2||1||||||||||||||||||||||||||||||||||||||||||||INPLAQPVIYSTIFAGTLITALSSHWFFTWVGLEMNMLAFIPVLTKKMNPRSTEAAIKYFLTQATASMILLMAILFNNMLSGQWTMTNTTNQYSSLMIMMAMAMKLGMAPFHFWVPEVTQGTPLTSGLLLLTWQKLAPISIMYQISPSLNVSLLLTLSILSIMAGSWGGLNQTQLRKILAYSSITHMGWMMAVLPYNPNMTILNLTIYIILTTTAFLLLNLNSSTTTLLLSRTWNKLTWLTPLIPSTLLSLGGLPPLTGFLPKWAIIEEFTKNNSLIIPTIMATITLLNLYFYLRLIYSTSITLLPMSNNVKMKWQFEHTKPTPFLPTLIALTTLLLPISPFMLMIL||,C|upstream_gene_variant|MODIFIER|MT-ND5|ENSG00000198786|Transcript|ENST00000361567|protein_coding||||||||||rs2124595726|2566|1||SNV|HGNC|HGNC:7461|YES||||P1||ENSP00000354813|P03915.211|U5ZC31.85|UPI0000000A9D||1||||||||||||||||||||||||||||||||||||||||||||MTMHTTMTTLTLTSLIPPILTTLVNPNKKNSYPHYVKSIVASTFIISLFPTTMFMCLDQEVIISNWHWATTQTTQLSLSFKLDYFSMMFIPVALFVTWSIMEFSLWYMNSDPNINQFFKYLLIFLITMLILVTANNLFQLFIGWEGVGIMSFLLISWWYARADANTAAIQAILYNRIGDIGFILALAWFILHSNSWDPQQMALLNANPSLTPLLGLLLAAAGKSAQLGLHPWLPSAMEGPTPVSALLHSSTMVVAGIFLLIRFHPLAENSPLIQTLTLCLGAITTLFAAVCALTQNDIKKIVAFSTSSQLGLMMVTIGINQPHLAFLHICTHAFFKAMLFMCSGSIIHNLNNEQDIRKMGGLLKTMPLTSTSLTIGSLALAGMPFLTGFYSKDHIIETANMSYTNAWALSITLIATSLTSAYSTRMILLTLTGQPRFPTLTNINENNPTLLNPIKRLAAGSLFAGFLITNNISPASPFQTTIPLYLKLTALAVTFLGLLTALDLNYLTNKLKMKSPLCTFYFSNMLGFYPSITHRTIPYLGLLTSQNLPLLLLDLTWLEKLLPKTISQHQISTSIITSTQKGMIKLYFLSFFFPLILTLLLIT||,C|downstream_gene_variant|MODIFIER|MT-CO1|ENSG00000198804|Transcript|ENST00000361624|protein_coding||||||||||rs2124595726|2326|1||SNV|HGNC|HGNC:7419|YES||||P1||ENSP00000354499|P00395.219|U5YWV7.85|UPI0000000AA3||1||||||||||||||||||||||||||||||||||||||||||||MFADRWLFSTNHKDIGTLYLLFGAWAGVLGTALSLLIRAELGQPGNLLGNDHIYNVIVTAHAFVMIFFMVMPIMIGGFGNWLVPLMIGAPDMAFPRMNNMSFWLLPPSLLLLLASAMVEAGAGTGWTVYPPLAGNYSHPGASVDLTIFSLHLAGVSSILGAINFITTIINMKPPAMTQYQTPLFVWSVLITAVLLLLSLPVLAAGITMLLTDRNLNTTFFDPAGGGDPILYQHLFWFFGHPEVYILILPGFGMISHIVTYYSGKKEPFGYMGMVWAMMSIGFLGFIVWAHHMFTVGMDVDTRAYFTSATMIIAIPTGVKVFSWLATLHGSNMKWSAAVLWALGFIFLFTVGGLTGIVLANSSLDIVLHDTYYVVAHFHYVLSMGAVFAIMGGFIHWFPLFSGYTLDQTYAKIHFTIMFIGVNLTFFPQHFLGLSGMPRRYSDYPDAYTTWNILSSVGSFISLTAVMLMIFMIWEAFASKRKVLMVEEPSMNLEWLYGCPPPYHTFEEPVYMKS||,C|downstream_gene_variant|MODIFIER|MT-ND6|ENSG00000198695|Transcript|ENST00000361681|protein_coding||||||||||rs2124595726|4378|-1||SNV|HGNC|HGNC:7462|YES||||P1||ENSP00000354665|P03923.201|U5Z977.85|UPI0000000AA9||1||||||||||||||||||||||||||||||||||||||||||||MMYALFLLSVGLVMGFVGFSSKPSPIYGGLVLIVSGVVGCVIILNFGGGYMGLMVFLIYLGGMMVVFGYTTAMAIEEYPEAWGSGVEVLVSVLVGLAMEVGLVLWVKEYDGVVVVVNFNSVGSWMIYEGEGSGLIREDPIGAGALYDYGRWLVVVTGWTLFVGVYIVIEIARGN||,C|downstream_gene_variant|MODIFIER|MT-CO2|ENSG00000198712|Transcript|ENST00000361739|protein_coding||||||||||rs2124595726|1502|1||SNV|HGNC|HGNC:7421|YES||||P1||ENSP00000354876|P00403.224|U5Z487.85|UPI0000000AA4||1||||||||||||||||||||||||||||||||||||||||||||MAHAAQVGLQDATSPIMEELITFHDHALMIIFLICFLVLYALFLTLTTKLTNTNISDAQEMETVWTILPAIILVLIALPSLRILYMTDEVNDPSLTIKSIGHQWYWTYEYTDYGGLIFNSYMLPPLFLEPGDLRLLDVDNRVVLPIEAPIRMMITSQDVLHSWAVPTLGLKTDAIPGRLNQTTFTATRPGVYYGQCSEICGANHSFMPIVLELIPLKIFEMGPVFTL||,C|upstream_gene_variant|MODIFIER|MT-CYB|ENSG00000198727|Transcript|ENST00000361789|protein_coding||||||||||rs2124595726|4976|1||SNV|HGNC|HGNC:7427|YES||||P1||ENSP00000354554|P00156.226|Q0ZFD6.150|UPI0000DA7DCA||1||||||||||||||||||||||||||||||||||||||||||||MTPMRKTNPLMKLINHSFIDLPTPSNISAWWNFGSLLGACLILQITTGLFLAMHYSPDASTAFSSIAHITRDVNYGWIIRYLHANGASMFFICLFLHIGRGLYYGSFLYSETWNIGIILLLATMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTDLVQWIWGGYSVDSPTLTRFFTFHFILPFIIAALATLHLLFLHETGSNNPLGITSHSDKITFHPYYTIKDALGLLLFLLSLMTLTLFSPDLLGDPDNYTLANPLNTPPHIKPEWYFLFAYTILRSVPNKLGGVLALLLSILILAMIPILHMSKQQSMMFRPLSQSLYWLLAADLLILTWIGGQPVSYPFTIIGQVASVLYFTTILILMPTISLIENKMLKWA||,C|downstream_gene_variant|MODIFIER|MT-ATP8|ENSG00000228253|Transcript|ENST00000361851|protein_coding||||||||||rs2124595726|1199|1||SNV|HGNC|HGNC:7415|YES||||P1||ENSP00000355265|P03928.197|U5YV54.84|UPI0000000AA5||1||||||||||||||||||||||||||||||||||||||||||||MPQLNTTVWPTMITPMLLTLFLITQLKMLNTNYHLPPSPKPMKMKNYNKPWEPKWTKICSLHSLPPQS||,C|downstream_gene_variant|MODIFIER|MT-ATP6|ENSG00000198899|Transcript|ENST00000361899|protein_coding||||||||||rs2124595726|564|1||SNV|HGNC|HGNC:7414|YES||||P1||ENSP00000354632|P00846.213|Q0ZFE3.155|UPI0000001709||1||||||||||||||||||||||||||||||||||||||||||||MNENLFASFIAPTILGLPAAVLIILFPPLLIPTSKYLINNRLITTQQWLIKLTSKQMMTMHNTKGRTWSLMLVSLIIFIATTNLLGLLPHSFTPTTQLSMNLAMAIPLWAGTVIMGFRSKIKNALAHFLPQGTPTPLIPMLVIIETISLLIQPMALAVRLTANITAGHLLMHLIGSATLAMSTINLPSTLIIFTILILLTILEIAVALIQAYVFTLLVSLYLHDNT||,C|missense_variant|MODERATE|MT-CO3|ENSG00000198938|Transcript|ENST00000362079|protein_coding|1/1||ENST00000362079.2:c.565T>C|ENSP00000354982.2:p.Ser189Pro|565|565|189|S/P|Tcc/Ccc|rs2124595726||1||SNV|HGNC|HGNC:7422|YES||||P1||ENSP00000354982|P00414.205|Q7GIM7.204|UPI0000000369||1|deleterious_low_confidence(0)|probably_damaging(0.971)|Gene3D:1.20.120.80&PDB-ENSP_mappings:5z62.C&Pfam:PF00510&PROSITE_profiles:PS50253&PANTHER:PTHR11403&Superfamily:SSF81452&CDD:cd01665|||||||||||||||||||||||||||||||||||||||||MTHQSHAYHMVKPSPWPLTGALSALLMTSGLAMWFHFHSMTLLMLGLLTNTLTMYQWWRDVTRESTYQGHHTPPVQKGLRYGMILFITSEVFFFAGFFWAFYHSSLAPTPQLGGHWPPTGITPLNPLEVPLLNTSVLLASGVSITWAHHSLMENNRNQMIQALLITILLGLYFTLLQASEYFESPFTISDGIYGSTFFVATGFHGLHVIIGSTFLTICFIRQLMFHFTSKHHFGFEAAAWYWHFVDVVWLFLYVSIYWWGS||,C|downstream_gene_variant|MODIFIER|MT-TW|ENSG00000210117|Transcript|ENST00000387382|Mt_tRNA||||||||||rs2124595726|4192|1||SNV|HGNC|HGNC:7501|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|MT-TA|ENSG00000210127|Transcript|ENST00000387392|Mt_tRNA||||||||||rs2124595726|4116|-1||SNV|HGNC|HGNC:7475|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|MT-TN|ENSG00000210135|Transcript|ENST00000387400|Mt_tRNA||||||||||rs2124595726|4042|-1||SNV|HGNC|HGNC:7493|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|MT-TC|ENSG00000210140|Transcript|ENST00000387405|Mt_tRNA||||||||||rs2124595726|3945|-1||SNV|HGNC|HGNC:7477|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|MT-TY|ENSG00000210144|Transcript|ENST00000387409|Mt_tRNA||||||||||rs2124595726|3880|-1||SNV|HGNC|HGNC:7502|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|MT-TS1|ENSG00000210151|Transcript|ENST00000387416|Mt_tRNA||||||||||rs2124595726|2257|-1||SNV|HGNC|HGNC:7497|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|MT-TD|ENSG00000210154|Transcript|ENST00000387419|Mt_tRNA||||||||||rs2124595726|2186|1||SNV|HGNC|HGNC:7478|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|MT-TK|ENSG00000210156|Transcript|ENST00000387421|Mt_tRNA||||||||||rs2124595726|1407|1||SNV|HGNC|HGNC:7489|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|MT-TG|ENSG00000210164|Transcript|ENST00000387429|Mt_tRNA||||||||||rs2124595726|220|1||SNV|HGNC|HGNC:7486|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|MT-TR|ENSG00000210174|Transcript|ENST00000387439|Mt_tRNA||||||||||rs2124595726|634|1||SNV|HGNC|HGNC:7496|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|MT-TH|ENSG00000210176|Transcript|ENST00000387441|Mt_tRNA||||||||||rs2124595726|2367|1||SNV|HGNC|HGNC:7487|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|MT-TS2|ENSG00000210184|Transcript|ENST00000387449|Mt_tRNA||||||||||rs2124595726|2436|1||SNV|HGNC|HGNC:7498|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|MT-TL2|ENSG00000210191|Transcript|ENST00000387456|Mt_tRNA||||||||||rs2124595726|2495|1||SNV|HGNC|HGNC:7491|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|MT-TE|ENSG00000210194|Transcript|ENST00000387459|Mt_tRNA||||||||||rs2124595726|4903|-1||SNV|HGNC|HGNC:7479|YES|||||||||||1|||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:36,2:0.095:38:0,0:18,1:18,1:18,18,1,1 -chrMT 9773 . C T . clustered_events;strand_bias;weak_evidence AS_FilterStatus=weak_evidence,strand_bias;AS_SB_TABLE=18%2C18|1%2C1;DP=38;ECNT=6;GERMQ=93;MBQ=32,33;MFRL=0,0;MMQ=42,60;MPOS=125;POPAF=7.3;TLOD=4.97;SRC=custom;GRP=custom;CSQ=T|upstream_gene_variant|MODIFIER|MT-ND3|ENSG00000198840|Transcript|ENST00000361227|protein_coding||||||||||rs1603222495|286|1||SNV|HGNC|HGNC:7458|YES||||P1||ENSP00000355206|P03897.181|Q7GXZ5.214|UPI0000000AA6||1||||||||||||||||||||||||||||||||||||||||||||MNFALILMINTLLALLLMIITFWLPQLNGYMEKSTPYECGFDPMSPARVPFSMKFFLVAITFLLFDLEIALLLPLPWALQTTNLPLMVMSSLLLIIILALSLAYEWLQKGLDWTE||,T|upstream_gene_variant|MODIFIER|MT-ND4L|ENSG00000212907|Transcript|ENST00000361335|protein_coding||||||||||rs1603222495|697|1||SNV|HGNC|HGNC:7460|YES||||P1||ENSP00000354728|P03901.186|Q7GXZ4.219|UPI0000000AA7||1||||||||||||||||||||||||||||||||||||||||||||MPLIYMNIMLAFTISLLGMLVYRSHLMSSLLCLEGMMLSLFIMATLMTLNTHSLLANIVPIAMLVFAACEAAVGLALLVSISNTYGLDYVHNLNLLQC||,T|upstream_gene_variant|MODIFIER|MT-ND4|ENSG00000198886|Transcript|ENST00000361381|protein_coding||||||||||rs1603222495|987|1||SNV|HGNC|HGNC:7459|YES||||P1||ENSP00000354961|P03905.203|H9EC08.93|UPI0000000AA8||1||||||||||||||||||||||||||||||||||||||||||||MLKLIVPTIMLLPLTWLSKKHMIWINTTTHSLIISIIPLLFFNQINNNLFSCSPTFSSDPLTTPLLMLTTWLLPLTIMASQRHLSSEPLSRKKLYLSMLISLQISLIMTFTATELIMFYIFFETTLIPTLAIITRWGNQPERLNAGTYFLFYTLVGSLPLLIALIYTHNTLGSLNILLLTLTAQELSNSWANNLMWLAYTMAFMVKMPLYGLHLWLPKAHVEAPIAGSMVLAAVLLKLGGYGMMRLTLILNPLTKHMAYPFLVLSLWGMIMTSSICLRQTDLKSLIAYSSISHMALVVTAILIQTPWSFTGAVILMIAHGLTSSLLFCLANSNYERTHSRIMILSQGLQTLLPLMAFWWLLASLANLALPPTINLLGELSVLVTTFSWSNITLLLTGLNMLVTALYSLYMFTTTQWGSLTHHINNMKPSFTRENTLMFMHLSPILLLSLNPDIITGFSS||,T|downstream_gene_variant|MODIFIER|MT-ND2|ENSG00000198763|Transcript|ENST00000361453|protein_coding||||||||||rs1603222495|4262|1||SNV|HGNC|HGNC:7456|YES||||P1||ENSP00000355046|P03891.205|Q7GXY9.217|UPI0000000AA2||1||||||||||||||||||||||||||||||||||||||||||||INPLAQPVIYSTIFAGTLITALSSHWFFTWVGLEMNMLAFIPVLTKKMNPRSTEAAIKYFLTQATASMILLMAILFNNMLSGQWTMTNTTNQYSSLMIMMAMAMKLGMAPFHFWVPEVTQGTPLTSGLLLLTWQKLAPISIMYQISPSLNVSLLLTLSILSIMAGSWGGLNQTQLRKILAYSSITHMGWMMAVLPYNPNMTILNLTIYIILTTTAFLLLNLNSSTTTLLLSRTWNKLTWLTPLIPSTLLSLGGLPPLTGFLPKWAIIEEFTKNNSLIIPTIMATITLLNLYFYLRLIYSTSITLLPMSNNVKMKWQFEHTKPTPFLPTLIALTTLLLPISPFMLMIL||,T|upstream_gene_variant|MODIFIER|MT-ND5|ENSG00000198786|Transcript|ENST00000361567|protein_coding||||||||||rs1603222495|2564|1||SNV|HGNC|HGNC:7461|YES||||P1||ENSP00000354813|P03915.211|U5ZC31.85|UPI0000000A9D||1||||||||||||||||||||||||||||||||||||||||||||MTMHTTMTTLTLTSLIPPILTTLVNPNKKNSYPHYVKSIVASTFIISLFPTTMFMCLDQEVIISNWHWATTQTTQLSLSFKLDYFSMMFIPVALFVTWSIMEFSLWYMNSDPNINQFFKYLLIFLITMLILVTANNLFQLFIGWEGVGIMSFLLISWWYARADANTAAIQAILYNRIGDIGFILALAWFILHSNSWDPQQMALLNANPSLTPLLGLLLAAAGKSAQLGLHPWLPSAMEGPTPVSALLHSSTMVVAGIFLLIRFHPLAENSPLIQTLTLCLGAITTLFAAVCALTQNDIKKIVAFSTSSQLGLMMVTIGINQPHLAFLHICTHAFFKAMLFMCSGSIIHNLNNEQDIRKMGGLLKTMPLTSTSLTIGSLALAGMPFLTGFYSKDHIIETANMSYTNAWALSITLIATSLTSAYSTRMILLTLTGQPRFPTLTNINENNPTLLNPIKRLAAGSLFAGFLITNNISPASPFQTTIPLYLKLTALAVTFLGLLTALDLNYLTNKLKMKSPLCTFYFSNMLGFYPSITHRTIPYLGLLTSQNLPLLLLDLTWLEKLLPKTISQHQISTSIITSTQKGMIKLYFLSFFFPLILTLLLIT||,T|downstream_gene_variant|MODIFIER|MT-CO1|ENSG00000198804|Transcript|ENST00000361624|protein_coding||||||||||rs1603222495|2328|1||SNV|HGNC|HGNC:7419|YES||||P1||ENSP00000354499|P00395.219|U5YWV7.85|UPI0000000AA3||1||||||||||||||||||||||||||||||||||||||||||||MFADRWLFSTNHKDIGTLYLLFGAWAGVLGTALSLLIRAELGQPGNLLGNDHIYNVIVTAHAFVMIFFMVMPIMIGGFGNWLVPLMIGAPDMAFPRMNNMSFWLLPPSLLLLLASAMVEAGAGTGWTVYPPLAGNYSHPGASVDLTIFSLHLAGVSSILGAINFITTIINMKPPAMTQYQTPLFVWSVLITAVLLLLSLPVLAAGITMLLTDRNLNTTFFDPAGGGDPILYQHLFWFFGHPEVYILILPGFGMISHIVTYYSGKKEPFGYMGMVWAMMSIGFLGFIVWAHHMFTVGMDVDTRAYFTSATMIIAIPTGVKVFSWLATLHGSNMKWSAAVLWALGFIFLFTVGGLTGIVLANSSLDIVLHDTYYVVAHFHYVLSMGAVFAIMGGFIHWFPLFSGYTLDQTYAKIHFTIMFIGVNLTFFPQHFLGLSGMPRRYSDYPDAYTTWNILSSVGSFISLTAVMLMIFMIWEAFASKRKVLMVEEPSMNLEWLYGCPPPYHTFEEPVYMKS||,T|downstream_gene_variant|MODIFIER|MT-ND6|ENSG00000198695|Transcript|ENST00000361681|protein_coding||||||||||rs1603222495|4376|-1||SNV|HGNC|HGNC:7462|YES||||P1||ENSP00000354665|P03923.201|U5Z977.85|UPI0000000AA9||1||||||||||||||||||||||||||||||||||||||||||||MMYALFLLSVGLVMGFVGFSSKPSPIYGGLVLIVSGVVGCVIILNFGGGYMGLMVFLIYLGGMMVVFGYTTAMAIEEYPEAWGSGVEVLVSVLVGLAMEVGLVLWVKEYDGVVVVVNFNSVGSWMIYEGEGSGLIREDPIGAGALYDYGRWLVVVTGWTLFVGVYIVIEIARGN||,T|downstream_gene_variant|MODIFIER|MT-CO2|ENSG00000198712|Transcript|ENST00000361739|protein_coding||||||||||rs1603222495|1504|1||SNV|HGNC|HGNC:7421|YES||||P1||ENSP00000354876|P00403.224|U5Z487.85|UPI0000000AA4||1||||||||||||||||||||||||||||||||||||||||||||MAHAAQVGLQDATSPIMEELITFHDHALMIIFLICFLVLYALFLTLTTKLTNTNISDAQEMETVWTILPAIILVLIALPSLRILYMTDEVNDPSLTIKSIGHQWYWTYEYTDYGGLIFNSYMLPPLFLEPGDLRLLDVDNRVVLPIEAPIRMMITSQDVLHSWAVPTLGLKTDAIPGRLNQTTFTATRPGVYYGQCSEICGANHSFMPIVLELIPLKIFEMGPVFTL||,T|upstream_gene_variant|MODIFIER|MT-CYB|ENSG00000198727|Transcript|ENST00000361789|protein_coding||||||||||rs1603222495|4974|1||SNV|HGNC|HGNC:7427|YES||||P1||ENSP00000354554|P00156.226|Q0ZFD6.150|UPI0000DA7DCA||1||||||||||||||||||||||||||||||||||||||||||||MTPMRKTNPLMKLINHSFIDLPTPSNISAWWNFGSLLGACLILQITTGLFLAMHYSPDASTAFSSIAHITRDVNYGWIIRYLHANGASMFFICLFLHIGRGLYYGSFLYSETWNIGIILLLATMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTDLVQWIWGGYSVDSPTLTRFFTFHFILPFIIAALATLHLLFLHETGSNNPLGITSHSDKITFHPYYTIKDALGLLLFLLSLMTLTLFSPDLLGDPDNYTLANPLNTPPHIKPEWYFLFAYTILRSVPNKLGGVLALLLSILILAMIPILHMSKQQSMMFRPLSQSLYWLLAADLLILTWIGGQPVSYPFTIIGQVASVLYFTTILILMPTISLIENKMLKWA||,T|downstream_gene_variant|MODIFIER|MT-ATP8|ENSG00000228253|Transcript|ENST00000361851|protein_coding||||||||||rs1603222495|1201|1||SNV|HGNC|HGNC:7415|YES||||P1||ENSP00000355265|P03928.197|U5YV54.84|UPI0000000AA5||1||||||||||||||||||||||||||||||||||||||||||||MPQLNTTVWPTMITPMLLTLFLITQLKMLNTNYHLPPSPKPMKMKNYNKPWEPKWTKICSLHSLPPQS||,T|downstream_gene_variant|MODIFIER|MT-ATP6|ENSG00000198899|Transcript|ENST00000361899|protein_coding||||||||||rs1603222495|566|1||SNV|HGNC|HGNC:7414|YES||||P1||ENSP00000354632|P00846.213|Q0ZFE3.155|UPI0000001709||1||||||||||||||||||||||||||||||||||||||||||||MNENLFASFIAPTILGLPAAVLIILFPPLLIPTSKYLINNRLITTQQWLIKLTSKQMMTMHNTKGRTWSLMLVSLIIFIATTNLLGLLPHSFTPTTQLSMNLAMAIPLWAGTVIMGFRSKIKNALAHFLPQGTPTPLIPMLVIIETISLLIQPMALAVRLTANITAGHLLMHLIGSATLAMSTINLPSTLIIFTILILLTILEIAVALIQAYVFTLLVSLYLHDNT||,T|synonymous_variant|LOW|MT-CO3|ENSG00000198938|Transcript|ENST00000362079|protein_coding|1/1||ENST00000362079.2:c.567C>T|ENSP00000354982.2:p.Ser189%3D|567|567|189|S|tcC/tcT|rs1603222495||1||SNV|HGNC|HGNC:7422|YES||||P1||ENSP00000354982|P00414.205|Q7GIM7.204|UPI0000000369||1|||Gene3D:1.20.120.80&PDB-ENSP_mappings:5z62.C&Pfam:PF00510&PROSITE_profiles:PS50253&PANTHER:PTHR11403&Superfamily:SSF81452&CDD:cd01665|||||||||||||||||||||||||||||||||||||||||MTHQSHAYHMVKPSPWPLTGALSALLMTSGLAMWFHFHSMTLLMLGLLTNTLTMYQWWRDVTRESTYQGHHTPPVQKGLRYGMILFITSEVFFFAGFFWAFYHSSLAPTPQLGGHWPPTGITPLNPLEVPLLNTSVLLASGVSITWAHHSLMENNRNQMIQALLITILLGLYFTLLQASEYFESPFTISDGIYGSTFFVATGFHGLHVIIGSTFLTICFIRQLMFHFTSKHHFGFEAAAWYWHFVDVVWLFLYVSIYWWGS||,T|downstream_gene_variant|MODIFIER|MT-TW|ENSG00000210117|Transcript|ENST00000387382|Mt_tRNA||||||||||rs1603222495|4194|1||SNV|HGNC|HGNC:7501|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|MT-TA|ENSG00000210127|Transcript|ENST00000387392|Mt_tRNA||||||||||rs1603222495|4118|-1||SNV|HGNC|HGNC:7475|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|MT-TN|ENSG00000210135|Transcript|ENST00000387400|Mt_tRNA||||||||||rs1603222495|4044|-1||SNV|HGNC|HGNC:7493|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|MT-TC|ENSG00000210140|Transcript|ENST00000387405|Mt_tRNA||||||||||rs1603222495|3947|-1||SNV|HGNC|HGNC:7477|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|MT-TY|ENSG00000210144|Transcript|ENST00000387409|Mt_tRNA||||||||||rs1603222495|3882|-1||SNV|HGNC|HGNC:7502|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|MT-TS1|ENSG00000210151|Transcript|ENST00000387416|Mt_tRNA||||||||||rs1603222495|2259|-1||SNV|HGNC|HGNC:7497|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|MT-TD|ENSG00000210154|Transcript|ENST00000387419|Mt_tRNA||||||||||rs1603222495|2188|1||SNV|HGNC|HGNC:7478|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|MT-TK|ENSG00000210156|Transcript|ENST00000387421|Mt_tRNA||||||||||rs1603222495|1409|1||SNV|HGNC|HGNC:7489|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|MT-TG|ENSG00000210164|Transcript|ENST00000387429|Mt_tRNA||||||||||rs1603222495|218|1||SNV|HGNC|HGNC:7486|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|MT-TR|ENSG00000210174|Transcript|ENST00000387439|Mt_tRNA||||||||||rs1603222495|632|1||SNV|HGNC|HGNC:7496|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|MT-TH|ENSG00000210176|Transcript|ENST00000387441|Mt_tRNA||||||||||rs1603222495|2365|1||SNV|HGNC|HGNC:7487|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|MT-TS2|ENSG00000210184|Transcript|ENST00000387449|Mt_tRNA||||||||||rs1603222495|2434|1||SNV|HGNC|HGNC:7498|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|MT-TL2|ENSG00000210191|Transcript|ENST00000387456|Mt_tRNA||||||||||rs1603222495|2493|1||SNV|HGNC|HGNC:7491|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|MT-TE|ENSG00000210194|Transcript|ENST00000387459|Mt_tRNA||||||||||rs1603222495|4901|-1||SNV|HGNC|HGNC:7479|YES|||||||||||1|||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:36,2:0.095:38:0,0:18,1:18,1:18,18,1,1 -chrMT 9774 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=9%2C7|6%2C6;DP=31;ECNT=4;GERMQ=1;MBQ=32,33;MFRL=0,0;MMQ=42,41;MPOS=137;POPAF=7.3;TLOD=39.89;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER|MT-ND3|ENSG00000198840|Transcript|ENST00000361227|protein_coding||||||||||COSV106107947|285|1||SNV|HGNC|HGNC:7458|YES||||P1||ENSP00000355206|P03897.181|Q7GXZ5.214|UPI0000000AA6||1|||||||||||||||||||||||||||||||||||1|1||||||||MNFALILMINTLLALLLMIITFWLPQLNGYMEKSTPYECGFDPMSPARVPFSMKFFLVAITFLLFDLEIALLLPLPWALQTTNLPLMVMSSLLLIIILALSLAYEWLQKGLDWTE||,A|upstream_gene_variant|MODIFIER|MT-ND4L|ENSG00000212907|Transcript|ENST00000361335|protein_coding||||||||||COSV106107947|696|1||SNV|HGNC|HGNC:7460|YES||||P1||ENSP00000354728|P03901.186|Q7GXZ4.219|UPI0000000AA7||1|||||||||||||||||||||||||||||||||||1|1||||||||MPLIYMNIMLAFTISLLGMLVYRSHLMSSLLCLEGMMLSLFIMATLMTLNTHSLLANIVPIAMLVFAACEAAVGLALLVSISNTYGLDYVHNLNLLQC||,A|upstream_gene_variant|MODIFIER|MT-ND4|ENSG00000198886|Transcript|ENST00000361381|protein_coding||||||||||COSV106107947|986|1||SNV|HGNC|HGNC:7459|YES||||P1||ENSP00000354961|P03905.203|H9EC08.93|UPI0000000AA8||1|||||||||||||||||||||||||||||||||||1|1||||||||MLKLIVPTIMLLPLTWLSKKHMIWINTTTHSLIISIIPLLFFNQINNNLFSCSPTFSSDPLTTPLLMLTTWLLPLTIMASQRHLSSEPLSRKKLYLSMLISLQISLIMTFTATELIMFYIFFETTLIPTLAIITRWGNQPERLNAGTYFLFYTLVGSLPLLIALIYTHNTLGSLNILLLTLTAQELSNSWANNLMWLAYTMAFMVKMPLYGLHLWLPKAHVEAPIAGSMVLAAVLLKLGGYGMMRLTLILNPLTKHMAYPFLVLSLWGMIMTSSICLRQTDLKSLIAYSSISHMALVVTAILIQTPWSFTGAVILMIAHGLTSSLLFCLANSNYERTHSRIMILSQGLQTLLPLMAFWWLLASLANLALPPTINLLGELSVLVTTFSWSNITLLLTGLNMLVTALYSLYMFTTTQWGSLTHHINNMKPSFTRENTLMFMHLSPILLLSLNPDIITGFSS||,A|downstream_gene_variant|MODIFIER|MT-ND2|ENSG00000198763|Transcript|ENST00000361453|protein_coding||||||||||COSV106107947|4263|1||SNV|HGNC|HGNC:7456|YES||||P1||ENSP00000355046|P03891.205|Q7GXY9.217|UPI0000000AA2||1|||||||||||||||||||||||||||||||||||1|1||||||||INPLAQPVIYSTIFAGTLITALSSHWFFTWVGLEMNMLAFIPVLTKKMNPRSTEAAIKYFLTQATASMILLMAILFNNMLSGQWTMTNTTNQYSSLMIMMAMAMKLGMAPFHFWVPEVTQGTPLTSGLLLLTWQKLAPISIMYQISPSLNVSLLLTLSILSIMAGSWGGLNQTQLRKILAYSSITHMGWMMAVLPYNPNMTILNLTIYIILTTTAFLLLNLNSSTTTLLLSRTWNKLTWLTPLIPSTLLSLGGLPPLTGFLPKWAIIEEFTKNNSLIIPTIMATITLLNLYFYLRLIYSTSITLLPMSNNVKMKWQFEHTKPTPFLPTLIALTTLLLPISPFMLMIL||,A|upstream_gene_variant|MODIFIER|MT-ND5|ENSG00000198786|Transcript|ENST00000361567|protein_coding||||||||||COSV106107947|2563|1||SNV|HGNC|HGNC:7461|YES||||P1||ENSP00000354813|P03915.211|U5ZC31.85|UPI0000000A9D||1|||||||||||||||||||||||||||||||||||1|1||||||||MTMHTTMTTLTLTSLIPPILTTLVNPNKKNSYPHYVKSIVASTFIISLFPTTMFMCLDQEVIISNWHWATTQTTQLSLSFKLDYFSMMFIPVALFVTWSIMEFSLWYMNSDPNINQFFKYLLIFLITMLILVTANNLFQLFIGWEGVGIMSFLLISWWYARADANTAAIQAILYNRIGDIGFILALAWFILHSNSWDPQQMALLNANPSLTPLLGLLLAAAGKSAQLGLHPWLPSAMEGPTPVSALLHSSTMVVAGIFLLIRFHPLAENSPLIQTLTLCLGAITTLFAAVCALTQNDIKKIVAFSTSSQLGLMMVTIGINQPHLAFLHICTHAFFKAMLFMCSGSIIHNLNNEQDIRKMGGLLKTMPLTSTSLTIGSLALAGMPFLTGFYSKDHIIETANMSYTNAWALSITLIATSLTSAYSTRMILLTLTGQPRFPTLTNINENNPTLLNPIKRLAAGSLFAGFLITNNISPASPFQTTIPLYLKLTALAVTFLGLLTALDLNYLTNKLKMKSPLCTFYFSNMLGFYPSITHRTIPYLGLLTSQNLPLLLLDLTWLEKLLPKTISQHQISTSIITSTQKGMIKLYFLSFFFPLILTLLLIT||,A|downstream_gene_variant|MODIFIER|MT-CO1|ENSG00000198804|Transcript|ENST00000361624|protein_coding||||||||||COSV106107947|2329|1||SNV|HGNC|HGNC:7419|YES||||P1||ENSP00000354499|P00395.219|U5YWV7.85|UPI0000000AA3||1|||||||||||||||||||||||||||||||||||1|1||||||||MFADRWLFSTNHKDIGTLYLLFGAWAGVLGTALSLLIRAELGQPGNLLGNDHIYNVIVTAHAFVMIFFMVMPIMIGGFGNWLVPLMIGAPDMAFPRMNNMSFWLLPPSLLLLLASAMVEAGAGTGWTVYPPLAGNYSHPGASVDLTIFSLHLAGVSSILGAINFITTIINMKPPAMTQYQTPLFVWSVLITAVLLLLSLPVLAAGITMLLTDRNLNTTFFDPAGGGDPILYQHLFWFFGHPEVYILILPGFGMISHIVTYYSGKKEPFGYMGMVWAMMSIGFLGFIVWAHHMFTVGMDVDTRAYFTSATMIIAIPTGVKVFSWLATLHGSNMKWSAAVLWALGFIFLFTVGGLTGIVLANSSLDIVLHDTYYVVAHFHYVLSMGAVFAIMGGFIHWFPLFSGYTLDQTYAKIHFTIMFIGVNLTFFPQHFLGLSGMPRRYSDYPDAYTTWNILSSVGSFISLTAVMLMIFMIWEAFASKRKVLMVEEPSMNLEWLYGCPPPYHTFEEPVYMKS||,A|downstream_gene_variant|MODIFIER|MT-ND6|ENSG00000198695|Transcript|ENST00000361681|protein_coding||||||||||COSV106107947|4375|-1||SNV|HGNC|HGNC:7462|YES||||P1||ENSP00000354665|P03923.201|U5Z977.85|UPI0000000AA9||1|||||||||||||||||||||||||||||||||||1|1||||||||MMYALFLLSVGLVMGFVGFSSKPSPIYGGLVLIVSGVVGCVIILNFGGGYMGLMVFLIYLGGMMVVFGYTTAMAIEEYPEAWGSGVEVLVSVLVGLAMEVGLVLWVKEYDGVVVVVNFNSVGSWMIYEGEGSGLIREDPIGAGALYDYGRWLVVVTGWTLFVGVYIVIEIARGN||,A|downstream_gene_variant|MODIFIER|MT-CO2|ENSG00000198712|Transcript|ENST00000361739|protein_coding||||||||||COSV106107947|1505|1||SNV|HGNC|HGNC:7421|YES||||P1||ENSP00000354876|P00403.224|U5Z487.85|UPI0000000AA4||1|||||||||||||||||||||||||||||||||||1|1||||||||MAHAAQVGLQDATSPIMEELITFHDHALMIIFLICFLVLYALFLTLTTKLTNTNISDAQEMETVWTILPAIILVLIALPSLRILYMTDEVNDPSLTIKSIGHQWYWTYEYTDYGGLIFNSYMLPPLFLEPGDLRLLDVDNRVVLPIEAPIRMMITSQDVLHSWAVPTLGLKTDAIPGRLNQTTFTATRPGVYYGQCSEICGANHSFMPIVLELIPLKIFEMGPVFTL||,A|upstream_gene_variant|MODIFIER|MT-CYB|ENSG00000198727|Transcript|ENST00000361789|protein_coding||||||||||COSV106107947|4973|1||SNV|HGNC|HGNC:7427|YES||||P1||ENSP00000354554|P00156.226|Q0ZFD6.150|UPI0000DA7DCA||1|||||||||||||||||||||||||||||||||||1|1||||||||MTPMRKTNPLMKLINHSFIDLPTPSNISAWWNFGSLLGACLILQITTGLFLAMHYSPDASTAFSSIAHITRDVNYGWIIRYLHANGASMFFICLFLHIGRGLYYGSFLYSETWNIGIILLLATMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTDLVQWIWGGYSVDSPTLTRFFTFHFILPFIIAALATLHLLFLHETGSNNPLGITSHSDKITFHPYYTIKDALGLLLFLLSLMTLTLFSPDLLGDPDNYTLANPLNTPPHIKPEWYFLFAYTILRSVPNKLGGVLALLLSILILAMIPILHMSKQQSMMFRPLSQSLYWLLAADLLILTWIGGQPVSYPFTIIGQVASVLYFTTILILMPTISLIENKMLKWA||,A|downstream_gene_variant|MODIFIER|MT-ATP8|ENSG00000228253|Transcript|ENST00000361851|protein_coding||||||||||COSV106107947|1202|1||SNV|HGNC|HGNC:7415|YES||||P1||ENSP00000355265|P03928.197|U5YV54.84|UPI0000000AA5||1|||||||||||||||||||||||||||||||||||1|1||||||||MPQLNTTVWPTMITPMLLTLFLITQLKMLNTNYHLPPSPKPMKMKNYNKPWEPKWTKICSLHSLPPQS||,A|downstream_gene_variant|MODIFIER|MT-ATP6|ENSG00000198899|Transcript|ENST00000361899|protein_coding||||||||||COSV106107947|567|1||SNV|HGNC|HGNC:7414|YES||||P1||ENSP00000354632|P00846.213|Q0ZFE3.155|UPI0000001709||1|||||||||||||||||||||||||||||||||||1|1||||||||MNENLFASFIAPTILGLPAAVLIILFPPLLIPTSKYLINNRLITTQQWLIKLTSKQMMTMHNTKGRTWSLMLVSLIIFIATTNLLGLLPHSFTPTTQLSMNLAMAIPLWAGTVIMGFRSKIKNALAHFLPQGTPTPLIPMLVIIETISLLIQPMALAVRLTANITAGHLLMHLIGSATLAMSTINLPSTLIIFTILILLTILEIAVALIQAYVFTLLVSLYLHDNT||,A|missense_variant|MODERATE|MT-CO3|ENSG00000198938|Transcript|ENST00000362079|protein_coding|1/1||ENST00000362079.2:c.568G>A|ENSP00000354982.2:p.Asp190Asn|568|568|190|D/N|Gac/Aac|COSV106107947||1||SNV|HGNC|HGNC:7422|YES||||P1||ENSP00000354982|P00414.205|Q7GIM7.204|UPI0000000369||1|deleterious_low_confidence(0)|probably_damaging(0.986)|Gene3D:1.20.120.80&PDB-ENSP_mappings:5z62.C&Pfam:PF00510&PROSITE_profiles:PS50253&PANTHER:PTHR11403&Superfamily:SSF81452&CDD:cd01665||||||||||||||||||||||||||||||||1|1||||||||MTHQSHAYHMVKPSPWPLTGALSALLMTSGLAMWFHFHSMTLLMLGLLTNTLTMYQWWRDVTRESTYQGHHTPPVQKGLRYGMILFITSEVFFFAGFFWAFYHSSLAPTPQLGGHWPPTGITPLNPLEVPLLNTSVLLASGVSITWAHHSLMENNRNQMIQALLITILLGLYFTLLQASEYFESPFTISDGIYGSTFFVATGFHGLHVIIGSTFLTICFIRQLMFHFTSKHHFGFEAAAWYWHFVDVVWLFLYVSIYWWGS||,A|downstream_gene_variant|MODIFIER|MT-TW|ENSG00000210117|Transcript|ENST00000387382|Mt_tRNA||||||||||COSV106107947|4195|1||SNV|HGNC|HGNC:7501|YES|||||||||||1|||||||||||||||||||||||||||||||||||1|1||||||||||,A|upstream_gene_variant|MODIFIER|MT-TA|ENSG00000210127|Transcript|ENST00000387392|Mt_tRNA||||||||||COSV106107947|4119|-1||SNV|HGNC|HGNC:7475|YES||||||||||||||||||||||||||||||||||||||||||||||1|1||||||||||,A|upstream_gene_variant|MODIFIER|MT-TN|ENSG00000210135|Transcript|ENST00000387400|Mt_tRNA||||||||||COSV106107947|4045|-1||SNV|HGNC|HGNC:7493|YES|||||||||||1|||||||||||||||||||||||||||||||||||1|1||||||||||,A|upstream_gene_variant|MODIFIER|MT-TC|ENSG00000210140|Transcript|ENST00000387405|Mt_tRNA||||||||||COSV106107947|3948|-1||SNV|HGNC|HGNC:7477|YES||||||||||||||||||||||||||||||||||||||||||||||1|1||||||||||,A|upstream_gene_variant|MODIFIER|MT-TY|ENSG00000210144|Transcript|ENST00000387409|Mt_tRNA||||||||||COSV106107947|3883|-1||SNV|HGNC|HGNC:7502|YES||||||||||||||||||||||||||||||||||||||||||||||1|1||||||||||,A|upstream_gene_variant|MODIFIER|MT-TS1|ENSG00000210151|Transcript|ENST00000387416|Mt_tRNA||||||||||COSV106107947|2260|-1||SNV|HGNC|HGNC:7497|YES|||||||||||1|||||||||||||||||||||||||||||||||||1|1||||||||||,A|downstream_gene_variant|MODIFIER|MT-TD|ENSG00000210154|Transcript|ENST00000387419|Mt_tRNA||||||||||COSV106107947|2189|1||SNV|HGNC|HGNC:7478|YES||||||||||||||||||||||||||||||||||||||||||||||1|1||||||||||,A|downstream_gene_variant|MODIFIER|MT-TK|ENSG00000210156|Transcript|ENST00000387421|Mt_tRNA||||||||||COSV106107947|1410|1||SNV|HGNC|HGNC:7489|YES|||||||||||1|||||||||||||||||||||||||||||||||||1|1||||||||||,A|upstream_gene_variant|MODIFIER|MT-TG|ENSG00000210164|Transcript|ENST00000387429|Mt_tRNA||||||||||COSV106107947|217|1||SNV|HGNC|HGNC:7486|YES|||||||||||1|||||||||||||||||||||||||||||||||||1|1||||||||||,A|upstream_gene_variant|MODIFIER|MT-TR|ENSG00000210174|Transcript|ENST00000387439|Mt_tRNA||||||||||COSV106107947|631|1||SNV|HGNC|HGNC:7496|YES||||||||||||||||||||||||||||||||||||||||||||||1|1||||||||||,A|upstream_gene_variant|MODIFIER|MT-TH|ENSG00000210176|Transcript|ENST00000387441|Mt_tRNA||||||||||COSV106107947|2364|1||SNV|HGNC|HGNC:7487|YES|||||||||||1|||||||||||||||||||||||||||||||||||1|1||||||||||,A|upstream_gene_variant|MODIFIER|MT-TS2|ENSG00000210184|Transcript|ENST00000387449|Mt_tRNA||||||||||COSV106107947|2433|1||SNV|HGNC|HGNC:7498|YES|||||||||||1|||||||||||||||||||||||||||||||||||1|1||||||||||,A|upstream_gene_variant|MODIFIER|MT-TL2|ENSG00000210191|Transcript|ENST00000387456|Mt_tRNA||||||||||COSV106107947|2492|1||SNV|HGNC|HGNC:7491|YES|||||||||||1|||||||||||||||||||||||||||||||||||1|1||||||||||,A|downstream_gene_variant|MODIFIER|MT-TE|ENSG00000210194|Transcript|ENST00000387459|Mt_tRNA||||||||||COSV106107947|4900|-1||SNV|HGNC|HGNC:7479|YES|||||||||||1|||||||||||||||||||||||||||||||||||1|1|||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:16,12:0.411:28:0,0:9,6:9,6:9,7,6,6 -chrMT 9774 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=12%2C12|2%2C2;DP=38;ECNT=6;GERMQ=73;MBQ=31,33;MFRL=0,0;MMQ=44,41;MPOS=140;POPAF=7.3;TLOD=11.01;SRC=custom;GRP=custom;CSQ=A|upstream_gene_variant|MODIFIER|MT-ND3|ENSG00000198840|Transcript|ENST00000361227|protein_coding||||||||||COSV106107947|285|1||SNV|HGNC|HGNC:7458|YES||||P1||ENSP00000355206|P03897.181|Q7GXZ5.214|UPI0000000AA6||1|||||||||||||||||||||||||||||||||||1|1||||||||MNFALILMINTLLALLLMIITFWLPQLNGYMEKSTPYECGFDPMSPARVPFSMKFFLVAITFLLFDLEIALLLPLPWALQTTNLPLMVMSSLLLIIILALSLAYEWLQKGLDWTE||,A|upstream_gene_variant|MODIFIER|MT-ND4L|ENSG00000212907|Transcript|ENST00000361335|protein_coding||||||||||COSV106107947|696|1||SNV|HGNC|HGNC:7460|YES||||P1||ENSP00000354728|P03901.186|Q7GXZ4.219|UPI0000000AA7||1|||||||||||||||||||||||||||||||||||1|1||||||||MPLIYMNIMLAFTISLLGMLVYRSHLMSSLLCLEGMMLSLFIMATLMTLNTHSLLANIVPIAMLVFAACEAAVGLALLVSISNTYGLDYVHNLNLLQC||,A|upstream_gene_variant|MODIFIER|MT-ND4|ENSG00000198886|Transcript|ENST00000361381|protein_coding||||||||||COSV106107947|986|1||SNV|HGNC|HGNC:7459|YES||||P1||ENSP00000354961|P03905.203|H9EC08.93|UPI0000000AA8||1|||||||||||||||||||||||||||||||||||1|1||||||||MLKLIVPTIMLLPLTWLSKKHMIWINTTTHSLIISIIPLLFFNQINNNLFSCSPTFSSDPLTTPLLMLTTWLLPLTIMASQRHLSSEPLSRKKLYLSMLISLQISLIMTFTATELIMFYIFFETTLIPTLAIITRWGNQPERLNAGTYFLFYTLVGSLPLLIALIYTHNTLGSLNILLLTLTAQELSNSWANNLMWLAYTMAFMVKMPLYGLHLWLPKAHVEAPIAGSMVLAAVLLKLGGYGMMRLTLILNPLTKHMAYPFLVLSLWGMIMTSSICLRQTDLKSLIAYSSISHMALVVTAILIQTPWSFTGAVILMIAHGLTSSLLFCLANSNYERTHSRIMILSQGLQTLLPLMAFWWLLASLANLALPPTINLLGELSVLVTTFSWSNITLLLTGLNMLVTALYSLYMFTTTQWGSLTHHINNMKPSFTRENTLMFMHLSPILLLSLNPDIITGFSS||,A|downstream_gene_variant|MODIFIER|MT-ND2|ENSG00000198763|Transcript|ENST00000361453|protein_coding||||||||||COSV106107947|4263|1||SNV|HGNC|HGNC:7456|YES||||P1||ENSP00000355046|P03891.205|Q7GXY9.217|UPI0000000AA2||1|||||||||||||||||||||||||||||||||||1|1||||||||INPLAQPVIYSTIFAGTLITALSSHWFFTWVGLEMNMLAFIPVLTKKMNPRSTEAAIKYFLTQATASMILLMAILFNNMLSGQWTMTNTTNQYSSLMIMMAMAMKLGMAPFHFWVPEVTQGTPLTSGLLLLTWQKLAPISIMYQISPSLNVSLLLTLSILSIMAGSWGGLNQTQLRKILAYSSITHMGWMMAVLPYNPNMTILNLTIYIILTTTAFLLLNLNSSTTTLLLSRTWNKLTWLTPLIPSTLLSLGGLPPLTGFLPKWAIIEEFTKNNSLIIPTIMATITLLNLYFYLRLIYSTSITLLPMSNNVKMKWQFEHTKPTPFLPTLIALTTLLLPISPFMLMIL||,A|upstream_gene_variant|MODIFIER|MT-ND5|ENSG00000198786|Transcript|ENST00000361567|protein_coding||||||||||COSV106107947|2563|1||SNV|HGNC|HGNC:7461|YES||||P1||ENSP00000354813|P03915.211|U5ZC31.85|UPI0000000A9D||1|||||||||||||||||||||||||||||||||||1|1||||||||MTMHTTMTTLTLTSLIPPILTTLVNPNKKNSYPHYVKSIVASTFIISLFPTTMFMCLDQEVIISNWHWATTQTTQLSLSFKLDYFSMMFIPVALFVTWSIMEFSLWYMNSDPNINQFFKYLLIFLITMLILVTANNLFQLFIGWEGVGIMSFLLISWWYARADANTAAIQAILYNRIGDIGFILALAWFILHSNSWDPQQMALLNANPSLTPLLGLLLAAAGKSAQLGLHPWLPSAMEGPTPVSALLHSSTMVVAGIFLLIRFHPLAENSPLIQTLTLCLGAITTLFAAVCALTQNDIKKIVAFSTSSQLGLMMVTIGINQPHLAFLHICTHAFFKAMLFMCSGSIIHNLNNEQDIRKMGGLLKTMPLTSTSLTIGSLALAGMPFLTGFYSKDHIIETANMSYTNAWALSITLIATSLTSAYSTRMILLTLTGQPRFPTLTNINENNPTLLNPIKRLAAGSLFAGFLITNNISPASPFQTTIPLYLKLTALAVTFLGLLTALDLNYLTNKLKMKSPLCTFYFSNMLGFYPSITHRTIPYLGLLTSQNLPLLLLDLTWLEKLLPKTISQHQISTSIITSTQKGMIKLYFLSFFFPLILTLLLIT||,A|downstream_gene_variant|MODIFIER|MT-CO1|ENSG00000198804|Transcript|ENST00000361624|protein_coding||||||||||COSV106107947|2329|1||SNV|HGNC|HGNC:7419|YES||||P1||ENSP00000354499|P00395.219|U5YWV7.85|UPI0000000AA3||1|||||||||||||||||||||||||||||||||||1|1||||||||MFADRWLFSTNHKDIGTLYLLFGAWAGVLGTALSLLIRAELGQPGNLLGNDHIYNVIVTAHAFVMIFFMVMPIMIGGFGNWLVPLMIGAPDMAFPRMNNMSFWLLPPSLLLLLASAMVEAGAGTGWTVYPPLAGNYSHPGASVDLTIFSLHLAGVSSILGAINFITTIINMKPPAMTQYQTPLFVWSVLITAVLLLLSLPVLAAGITMLLTDRNLNTTFFDPAGGGDPILYQHLFWFFGHPEVYILILPGFGMISHIVTYYSGKKEPFGYMGMVWAMMSIGFLGFIVWAHHMFTVGMDVDTRAYFTSATMIIAIPTGVKVFSWLATLHGSNMKWSAAVLWALGFIFLFTVGGLTGIVLANSSLDIVLHDTYYVVAHFHYVLSMGAVFAIMGGFIHWFPLFSGYTLDQTYAKIHFTIMFIGVNLTFFPQHFLGLSGMPRRYSDYPDAYTTWNILSSVGSFISLTAVMLMIFMIWEAFASKRKVLMVEEPSMNLEWLYGCPPPYHTFEEPVYMKS||,A|downstream_gene_variant|MODIFIER|MT-ND6|ENSG00000198695|Transcript|ENST00000361681|protein_coding||||||||||COSV106107947|4375|-1||SNV|HGNC|HGNC:7462|YES||||P1||ENSP00000354665|P03923.201|U5Z977.85|UPI0000000AA9||1|||||||||||||||||||||||||||||||||||1|1||||||||MMYALFLLSVGLVMGFVGFSSKPSPIYGGLVLIVSGVVGCVIILNFGGGYMGLMVFLIYLGGMMVVFGYTTAMAIEEYPEAWGSGVEVLVSVLVGLAMEVGLVLWVKEYDGVVVVVNFNSVGSWMIYEGEGSGLIREDPIGAGALYDYGRWLVVVTGWTLFVGVYIVIEIARGN||,A|downstream_gene_variant|MODIFIER|MT-CO2|ENSG00000198712|Transcript|ENST00000361739|protein_coding||||||||||COSV106107947|1505|1||SNV|HGNC|HGNC:7421|YES||||P1||ENSP00000354876|P00403.224|U5Z487.85|UPI0000000AA4||1|||||||||||||||||||||||||||||||||||1|1||||||||MAHAAQVGLQDATSPIMEELITFHDHALMIIFLICFLVLYALFLTLTTKLTNTNISDAQEMETVWTILPAIILVLIALPSLRILYMTDEVNDPSLTIKSIGHQWYWTYEYTDYGGLIFNSYMLPPLFLEPGDLRLLDVDNRVVLPIEAPIRMMITSQDVLHSWAVPTLGLKTDAIPGRLNQTTFTATRPGVYYGQCSEICGANHSFMPIVLELIPLKIFEMGPVFTL||,A|upstream_gene_variant|MODIFIER|MT-CYB|ENSG00000198727|Transcript|ENST00000361789|protein_coding||||||||||COSV106107947|4973|1||SNV|HGNC|HGNC:7427|YES||||P1||ENSP00000354554|P00156.226|Q0ZFD6.150|UPI0000DA7DCA||1|||||||||||||||||||||||||||||||||||1|1||||||||MTPMRKTNPLMKLINHSFIDLPTPSNISAWWNFGSLLGACLILQITTGLFLAMHYSPDASTAFSSIAHITRDVNYGWIIRYLHANGASMFFICLFLHIGRGLYYGSFLYSETWNIGIILLLATMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTDLVQWIWGGYSVDSPTLTRFFTFHFILPFIIAALATLHLLFLHETGSNNPLGITSHSDKITFHPYYTIKDALGLLLFLLSLMTLTLFSPDLLGDPDNYTLANPLNTPPHIKPEWYFLFAYTILRSVPNKLGGVLALLLSILILAMIPILHMSKQQSMMFRPLSQSLYWLLAADLLILTWIGGQPVSYPFTIIGQVASVLYFTTILILMPTISLIENKMLKWA||,A|downstream_gene_variant|MODIFIER|MT-ATP8|ENSG00000228253|Transcript|ENST00000361851|protein_coding||||||||||COSV106107947|1202|1||SNV|HGNC|HGNC:7415|YES||||P1||ENSP00000355265|P03928.197|U5YV54.84|UPI0000000AA5||1|||||||||||||||||||||||||||||||||||1|1||||||||MPQLNTTVWPTMITPMLLTLFLITQLKMLNTNYHLPPSPKPMKMKNYNKPWEPKWTKICSLHSLPPQS||,A|downstream_gene_variant|MODIFIER|MT-ATP6|ENSG00000198899|Transcript|ENST00000361899|protein_coding||||||||||COSV106107947|567|1||SNV|HGNC|HGNC:7414|YES||||P1||ENSP00000354632|P00846.213|Q0ZFE3.155|UPI0000001709||1|||||||||||||||||||||||||||||||||||1|1||||||||MNENLFASFIAPTILGLPAAVLIILFPPLLIPTSKYLINNRLITTQQWLIKLTSKQMMTMHNTKGRTWSLMLVSLIIFIATTNLLGLLPHSFTPTTQLSMNLAMAIPLWAGTVIMGFRSKIKNALAHFLPQGTPTPLIPMLVIIETISLLIQPMALAVRLTANITAGHLLMHLIGSATLAMSTINLPSTLIIFTILILLTILEIAVALIQAYVFTLLVSLYLHDNT||,A|missense_variant|MODERATE|MT-CO3|ENSG00000198938|Transcript|ENST00000362079|protein_coding|1/1||ENST00000362079.2:c.568G>A|ENSP00000354982.2:p.Asp190Asn|568|568|190|D/N|Gac/Aac|COSV106107947||1||SNV|HGNC|HGNC:7422|YES||||P1||ENSP00000354982|P00414.205|Q7GIM7.204|UPI0000000369||1|deleterious_low_confidence(0)|probably_damaging(0.986)|Gene3D:1.20.120.80&PDB-ENSP_mappings:5z62.C&Pfam:PF00510&PROSITE_profiles:PS50253&PANTHER:PTHR11403&Superfamily:SSF81452&CDD:cd01665||||||||||||||||||||||||||||||||1|1||||||||MTHQSHAYHMVKPSPWPLTGALSALLMTSGLAMWFHFHSMTLLMLGLLTNTLTMYQWWRDVTRESTYQGHHTPPVQKGLRYGMILFITSEVFFFAGFFWAFYHSSLAPTPQLGGHWPPTGITPLNPLEVPLLNTSVLLASGVSITWAHHSLMENNRNQMIQALLITILLGLYFTLLQASEYFESPFTISDGIYGSTFFVATGFHGLHVIIGSTFLTICFIRQLMFHFTSKHHFGFEAAAWYWHFVDVVWLFLYVSIYWWGS||,A|downstream_gene_variant|MODIFIER|MT-TW|ENSG00000210117|Transcript|ENST00000387382|Mt_tRNA||||||||||COSV106107947|4195|1||SNV|HGNC|HGNC:7501|YES|||||||||||1|||||||||||||||||||||||||||||||||||1|1||||||||||,A|upstream_gene_variant|MODIFIER|MT-TA|ENSG00000210127|Transcript|ENST00000387392|Mt_tRNA||||||||||COSV106107947|4119|-1||SNV|HGNC|HGNC:7475|YES||||||||||||||||||||||||||||||||||||||||||||||1|1||||||||||,A|upstream_gene_variant|MODIFIER|MT-TN|ENSG00000210135|Transcript|ENST00000387400|Mt_tRNA||||||||||COSV106107947|4045|-1||SNV|HGNC|HGNC:7493|YES|||||||||||1|||||||||||||||||||||||||||||||||||1|1||||||||||,A|upstream_gene_variant|MODIFIER|MT-TC|ENSG00000210140|Transcript|ENST00000387405|Mt_tRNA||||||||||COSV106107947|3948|-1||SNV|HGNC|HGNC:7477|YES||||||||||||||||||||||||||||||||||||||||||||||1|1||||||||||,A|upstream_gene_variant|MODIFIER|MT-TY|ENSG00000210144|Transcript|ENST00000387409|Mt_tRNA||||||||||COSV106107947|3883|-1||SNV|HGNC|HGNC:7502|YES||||||||||||||||||||||||||||||||||||||||||||||1|1||||||||||,A|upstream_gene_variant|MODIFIER|MT-TS1|ENSG00000210151|Transcript|ENST00000387416|Mt_tRNA||||||||||COSV106107947|2260|-1||SNV|HGNC|HGNC:7497|YES|||||||||||1|||||||||||||||||||||||||||||||||||1|1||||||||||,A|downstream_gene_variant|MODIFIER|MT-TD|ENSG00000210154|Transcript|ENST00000387419|Mt_tRNA||||||||||COSV106107947|2189|1||SNV|HGNC|HGNC:7478|YES||||||||||||||||||||||||||||||||||||||||||||||1|1||||||||||,A|downstream_gene_variant|MODIFIER|MT-TK|ENSG00000210156|Transcript|ENST00000387421|Mt_tRNA||||||||||COSV106107947|1410|1||SNV|HGNC|HGNC:7489|YES|||||||||||1|||||||||||||||||||||||||||||||||||1|1||||||||||,A|upstream_gene_variant|MODIFIER|MT-TG|ENSG00000210164|Transcript|ENST00000387429|Mt_tRNA||||||||||COSV106107947|217|1||SNV|HGNC|HGNC:7486|YES|||||||||||1|||||||||||||||||||||||||||||||||||1|1||||||||||,A|upstream_gene_variant|MODIFIER|MT-TR|ENSG00000210174|Transcript|ENST00000387439|Mt_tRNA||||||||||COSV106107947|631|1||SNV|HGNC|HGNC:7496|YES||||||||||||||||||||||||||||||||||||||||||||||1|1||||||||||,A|upstream_gene_variant|MODIFIER|MT-TH|ENSG00000210176|Transcript|ENST00000387441|Mt_tRNA||||||||||COSV106107947|2364|1||SNV|HGNC|HGNC:7487|YES|||||||||||1|||||||||||||||||||||||||||||||||||1|1||||||||||,A|upstream_gene_variant|MODIFIER|MT-TS2|ENSG00000210184|Transcript|ENST00000387449|Mt_tRNA||||||||||COSV106107947|2433|1||SNV|HGNC|HGNC:7498|YES|||||||||||1|||||||||||||||||||||||||||||||||||1|1||||||||||,A|upstream_gene_variant|MODIFIER|MT-TL2|ENSG00000210191|Transcript|ENST00000387456|Mt_tRNA||||||||||COSV106107947|2492|1||SNV|HGNC|HGNC:7491|YES|||||||||||1|||||||||||||||||||||||||||||||||||1|1||||||||||,A|downstream_gene_variant|MODIFIER|MT-TE|ENSG00000210194|Transcript|ENST00000387459|Mt_tRNA||||||||||COSV106107947|4900|-1||SNV|HGNC|HGNC:7479|YES|||||||||||1|||||||||||||||||||||||||||||||||||1|1|||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:24,4:0.183:28:0,0:11,2:12,2:12,12,2,2 -chrMT 9780 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C1|1%2C1;DP=15;ECNT=4;GERMQ=1;MBQ=31,21;MFRL=0,0;MMQ=33,54;MPOS=141;POPAF=7.3;TLOD=3.34;SRC=custom;GRP=custom;CSQ=G|upstream_gene_variant|MODIFIER|MT-ND3|ENSG00000198840|Transcript|ENST00000361227|protein_coding||||||||||rs1603222496|279|1||SNV|HGNC|HGNC:7458|YES||||P1||ENSP00000355206|P03897.181|Q7GXZ5.214|UPI0000000AA6||1||||||||||||||||||||||||||||||||||||||||||||MNFALILMINTLLALLLMIITFWLPQLNGYMEKSTPYECGFDPMSPARVPFSMKFFLVAITFLLFDLEIALLLPLPWALQTTNLPLMVMSSLLLIIILALSLAYEWLQKGLDWTE||,G|upstream_gene_variant|MODIFIER|MT-ND4L|ENSG00000212907|Transcript|ENST00000361335|protein_coding||||||||||rs1603222496|690|1||SNV|HGNC|HGNC:7460|YES||||P1||ENSP00000354728|P03901.186|Q7GXZ4.219|UPI0000000AA7||1||||||||||||||||||||||||||||||||||||||||||||MPLIYMNIMLAFTISLLGMLVYRSHLMSSLLCLEGMMLSLFIMATLMTLNTHSLLANIVPIAMLVFAACEAAVGLALLVSISNTYGLDYVHNLNLLQC||,G|upstream_gene_variant|MODIFIER|MT-ND4|ENSG00000198886|Transcript|ENST00000361381|protein_coding||||||||||rs1603222496|980|1||SNV|HGNC|HGNC:7459|YES||||P1||ENSP00000354961|P03905.203|H9EC08.93|UPI0000000AA8||1||||||||||||||||||||||||||||||||||||||||||||MLKLIVPTIMLLPLTWLSKKHMIWINTTTHSLIISIIPLLFFNQINNNLFSCSPTFSSDPLTTPLLMLTTWLLPLTIMASQRHLSSEPLSRKKLYLSMLISLQISLIMTFTATELIMFYIFFETTLIPTLAIITRWGNQPERLNAGTYFLFYTLVGSLPLLIALIYTHNTLGSLNILLLTLTAQELSNSWANNLMWLAYTMAFMVKMPLYGLHLWLPKAHVEAPIAGSMVLAAVLLKLGGYGMMRLTLILNPLTKHMAYPFLVLSLWGMIMTSSICLRQTDLKSLIAYSSISHMALVVTAILIQTPWSFTGAVILMIAHGLTSSLLFCLANSNYERTHSRIMILSQGLQTLLPLMAFWWLLASLANLALPPTINLLGELSVLVTTFSWSNITLLLTGLNMLVTALYSLYMFTTTQWGSLTHHINNMKPSFTRENTLMFMHLSPILLLSLNPDIITGFSS||,G|downstream_gene_variant|MODIFIER|MT-ND2|ENSG00000198763|Transcript|ENST00000361453|protein_coding||||||||||rs1603222496|4269|1||SNV|HGNC|HGNC:7456|YES||||P1||ENSP00000355046|P03891.205|Q7GXY9.217|UPI0000000AA2||1||||||||||||||||||||||||||||||||||||||||||||INPLAQPVIYSTIFAGTLITALSSHWFFTWVGLEMNMLAFIPVLTKKMNPRSTEAAIKYFLTQATASMILLMAILFNNMLSGQWTMTNTTNQYSSLMIMMAMAMKLGMAPFHFWVPEVTQGTPLTSGLLLLTWQKLAPISIMYQISPSLNVSLLLTLSILSIMAGSWGGLNQTQLRKILAYSSITHMGWMMAVLPYNPNMTILNLTIYIILTTTAFLLLNLNSSTTTLLLSRTWNKLTWLTPLIPSTLLSLGGLPPLTGFLPKWAIIEEFTKNNSLIIPTIMATITLLNLYFYLRLIYSTSITLLPMSNNVKMKWQFEHTKPTPFLPTLIALTTLLLPISPFMLMIL||,G|upstream_gene_variant|MODIFIER|MT-ND5|ENSG00000198786|Transcript|ENST00000361567|protein_coding||||||||||rs1603222496|2557|1||SNV|HGNC|HGNC:7461|YES||||P1||ENSP00000354813|P03915.211|U5ZC31.85|UPI0000000A9D||1||||||||||||||||||||||||||||||||||||||||||||MTMHTTMTTLTLTSLIPPILTTLVNPNKKNSYPHYVKSIVASTFIISLFPTTMFMCLDQEVIISNWHWATTQTTQLSLSFKLDYFSMMFIPVALFVTWSIMEFSLWYMNSDPNINQFFKYLLIFLITMLILVTANNLFQLFIGWEGVGIMSFLLISWWYARADANTAAIQAILYNRIGDIGFILALAWFILHSNSWDPQQMALLNANPSLTPLLGLLLAAAGKSAQLGLHPWLPSAMEGPTPVSALLHSSTMVVAGIFLLIRFHPLAENSPLIQTLTLCLGAITTLFAAVCALTQNDIKKIVAFSTSSQLGLMMVTIGINQPHLAFLHICTHAFFKAMLFMCSGSIIHNLNNEQDIRKMGGLLKTMPLTSTSLTIGSLALAGMPFLTGFYSKDHIIETANMSYTNAWALSITLIATSLTSAYSTRMILLTLTGQPRFPTLTNINENNPTLLNPIKRLAAGSLFAGFLITNNISPASPFQTTIPLYLKLTALAVTFLGLLTALDLNYLTNKLKMKSPLCTFYFSNMLGFYPSITHRTIPYLGLLTSQNLPLLLLDLTWLEKLLPKTISQHQISTSIITSTQKGMIKLYFLSFFFPLILTLLLIT||,G|downstream_gene_variant|MODIFIER|MT-CO1|ENSG00000198804|Transcript|ENST00000361624|protein_coding||||||||||rs1603222496|2335|1||SNV|HGNC|HGNC:7419|YES||||P1||ENSP00000354499|P00395.219|U5YWV7.85|UPI0000000AA3||1||||||||||||||||||||||||||||||||||||||||||||MFADRWLFSTNHKDIGTLYLLFGAWAGVLGTALSLLIRAELGQPGNLLGNDHIYNVIVTAHAFVMIFFMVMPIMIGGFGNWLVPLMIGAPDMAFPRMNNMSFWLLPPSLLLLLASAMVEAGAGTGWTVYPPLAGNYSHPGASVDLTIFSLHLAGVSSILGAINFITTIINMKPPAMTQYQTPLFVWSVLITAVLLLLSLPVLAAGITMLLTDRNLNTTFFDPAGGGDPILYQHLFWFFGHPEVYILILPGFGMISHIVTYYSGKKEPFGYMGMVWAMMSIGFLGFIVWAHHMFTVGMDVDTRAYFTSATMIIAIPTGVKVFSWLATLHGSNMKWSAAVLWALGFIFLFTVGGLTGIVLANSSLDIVLHDTYYVVAHFHYVLSMGAVFAIMGGFIHWFPLFSGYTLDQTYAKIHFTIMFIGVNLTFFPQHFLGLSGMPRRYSDYPDAYTTWNILSSVGSFISLTAVMLMIFMIWEAFASKRKVLMVEEPSMNLEWLYGCPPPYHTFEEPVYMKS||,G|downstream_gene_variant|MODIFIER|MT-ND6|ENSG00000198695|Transcript|ENST00000361681|protein_coding||||||||||rs1603222496|4369|-1||SNV|HGNC|HGNC:7462|YES||||P1||ENSP00000354665|P03923.201|U5Z977.85|UPI0000000AA9||1||||||||||||||||||||||||||||||||||||||||||||MMYALFLLSVGLVMGFVGFSSKPSPIYGGLVLIVSGVVGCVIILNFGGGYMGLMVFLIYLGGMMVVFGYTTAMAIEEYPEAWGSGVEVLVSVLVGLAMEVGLVLWVKEYDGVVVVVNFNSVGSWMIYEGEGSGLIREDPIGAGALYDYGRWLVVVTGWTLFVGVYIVIEIARGN||,G|downstream_gene_variant|MODIFIER|MT-CO2|ENSG00000198712|Transcript|ENST00000361739|protein_coding||||||||||rs1603222496|1511|1||SNV|HGNC|HGNC:7421|YES||||P1||ENSP00000354876|P00403.224|U5Z487.85|UPI0000000AA4||1||||||||||||||||||||||||||||||||||||||||||||MAHAAQVGLQDATSPIMEELITFHDHALMIIFLICFLVLYALFLTLTTKLTNTNISDAQEMETVWTILPAIILVLIALPSLRILYMTDEVNDPSLTIKSIGHQWYWTYEYTDYGGLIFNSYMLPPLFLEPGDLRLLDVDNRVVLPIEAPIRMMITSQDVLHSWAVPTLGLKTDAIPGRLNQTTFTATRPGVYYGQCSEICGANHSFMPIVLELIPLKIFEMGPVFTL||,G|upstream_gene_variant|MODIFIER|MT-CYB|ENSG00000198727|Transcript|ENST00000361789|protein_coding||||||||||rs1603222496|4967|1||SNV|HGNC|HGNC:7427|YES||||P1||ENSP00000354554|P00156.226|Q0ZFD6.150|UPI0000DA7DCA||1||||||||||||||||||||||||||||||||||||||||||||MTPMRKTNPLMKLINHSFIDLPTPSNISAWWNFGSLLGACLILQITTGLFLAMHYSPDASTAFSSIAHITRDVNYGWIIRYLHANGASMFFICLFLHIGRGLYYGSFLYSETWNIGIILLLATMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTDLVQWIWGGYSVDSPTLTRFFTFHFILPFIIAALATLHLLFLHETGSNNPLGITSHSDKITFHPYYTIKDALGLLLFLLSLMTLTLFSPDLLGDPDNYTLANPLNTPPHIKPEWYFLFAYTILRSVPNKLGGVLALLLSILILAMIPILHMSKQQSMMFRPLSQSLYWLLAADLLILTWIGGQPVSYPFTIIGQVASVLYFTTILILMPTISLIENKMLKWA||,G|downstream_gene_variant|MODIFIER|MT-ATP8|ENSG00000228253|Transcript|ENST00000361851|protein_coding||||||||||rs1603222496|1208|1||SNV|HGNC|HGNC:7415|YES||||P1||ENSP00000355265|P03928.197|U5YV54.84|UPI0000000AA5||1||||||||||||||||||||||||||||||||||||||||||||MPQLNTTVWPTMITPMLLTLFLITQLKMLNTNYHLPPSPKPMKMKNYNKPWEPKWTKICSLHSLPPQS||,G|downstream_gene_variant|MODIFIER|MT-ATP6|ENSG00000198899|Transcript|ENST00000361899|protein_coding||||||||||rs1603222496|573|1||SNV|HGNC|HGNC:7414|YES||||P1||ENSP00000354632|P00846.213|Q0ZFE3.155|UPI0000001709||1||||||||||||||||||||||||||||||||||||||||||||MNENLFASFIAPTILGLPAAVLIILFPPLLIPTSKYLINNRLITTQQWLIKLTSKQMMTMHNTKGRTWSLMLVSLIIFIATTNLLGLLPHSFTPTTQLSMNLAMAIPLWAGTVIMGFRSKIKNALAHFLPQGTPTPLIPMLVIIETISLLIQPMALAVRLTANITAGHLLMHLIGSATLAMSTINLPSTLIIFTILILLTILEIAVALIQAYVFTLLVSLYLHDNT||,G|missense_variant|MODERATE|MT-CO3|ENSG00000198938|Transcript|ENST00000362079|protein_coding|1/1||ENST00000362079.2:c.574A>G|ENSP00000354982.2:p.Ile192Val|574|574|192|I/V|Atc/Gtc|rs1603222496||1||SNV|HGNC|HGNC:7422|YES||||P1||ENSP00000354982|P00414.205|Q7GIM7.204|UPI0000000369||1|tolerated_low_confidence(1)|possibly_damaging(0.839)|Gene3D:1.20.120.80&PDB-ENSP_mappings:5z62.C&Pfam:PF00510&PROSITE_profiles:PS50253&PANTHER:PTHR11403&Superfamily:SSF81452&CDD:cd01665|||||||||||||||||||||||||||||||||||||||||MTHQSHAYHMVKPSPWPLTGALSALLMTSGLAMWFHFHSMTLLMLGLLTNTLTMYQWWRDVTRESTYQGHHTPPVQKGLRYGMILFITSEVFFFAGFFWAFYHSSLAPTPQLGGHWPPTGITPLNPLEVPLLNTSVLLASGVSITWAHHSLMENNRNQMIQALLITILLGLYFTLLQASEYFESPFTISDGIYGSTFFVATGFHGLHVIIGSTFLTICFIRQLMFHFTSKHHFGFEAAAWYWHFVDVVWLFLYVSIYWWGS||,G|downstream_gene_variant|MODIFIER|MT-TW|ENSG00000210117|Transcript|ENST00000387382|Mt_tRNA||||||||||rs1603222496|4201|1||SNV|HGNC|HGNC:7501|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|MT-TA|ENSG00000210127|Transcript|ENST00000387392|Mt_tRNA||||||||||rs1603222496|4125|-1||SNV|HGNC|HGNC:7475|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|MT-TN|ENSG00000210135|Transcript|ENST00000387400|Mt_tRNA||||||||||rs1603222496|4051|-1||SNV|HGNC|HGNC:7493|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|MT-TC|ENSG00000210140|Transcript|ENST00000387405|Mt_tRNA||||||||||rs1603222496|3954|-1||SNV|HGNC|HGNC:7477|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|MT-TY|ENSG00000210144|Transcript|ENST00000387409|Mt_tRNA||||||||||rs1603222496|3889|-1||SNV|HGNC|HGNC:7502|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|MT-TS1|ENSG00000210151|Transcript|ENST00000387416|Mt_tRNA||||||||||rs1603222496|2266|-1||SNV|HGNC|HGNC:7497|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|MT-TD|ENSG00000210154|Transcript|ENST00000387419|Mt_tRNA||||||||||rs1603222496|2195|1||SNV|HGNC|HGNC:7478|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|MT-TK|ENSG00000210156|Transcript|ENST00000387421|Mt_tRNA||||||||||rs1603222496|1416|1||SNV|HGNC|HGNC:7489|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|MT-TG|ENSG00000210164|Transcript|ENST00000387429|Mt_tRNA||||||||||rs1603222496|211|1||SNV|HGNC|HGNC:7486|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|MT-TR|ENSG00000210174|Transcript|ENST00000387439|Mt_tRNA||||||||||rs1603222496|625|1||SNV|HGNC|HGNC:7496|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|MT-TH|ENSG00000210176|Transcript|ENST00000387441|Mt_tRNA||||||||||rs1603222496|2358|1||SNV|HGNC|HGNC:7487|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|MT-TS2|ENSG00000210184|Transcript|ENST00000387449|Mt_tRNA||||||||||rs1603222496|2427|1||SNV|HGNC|HGNC:7498|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|MT-TL2|ENSG00000210191|Transcript|ENST00000387456|Mt_tRNA||||||||||rs1603222496|2486|1||SNV|HGNC|HGNC:7491|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|MT-TE|ENSG00000210194|Transcript|ENST00000387459|Mt_tRNA||||||||||rs1603222496|4894|-1||SNV|HGNC|HGNC:7479|YES|||||||||||1|||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,2:0.5:3:0,0:0,0:1,1:0,1,1,1 diff --git a/.tests/integration/custom-test/results/custom-test/custom/custom.variants_augmented.vcf b/.tests/integration/custom-test/results/custom-test/custom/custom.variants_augmented.vcf deleted file mode 100644 index 2f9b25f..0000000 --- a/.tests/integration/custom-test/results/custom-test/custom/custom.variants_augmented.vcf +++ /dev/null @@ -1,1041 +0,0 @@ -##fileformat=VCFv4.2 -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##GATKCommandLine= -##GATKCommandLine= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= 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results/indel-test/rnaseq/indel/mutect2/s001_variants/chr14_flt.vcf.gz results/indel-test/rnaseq/indel/mutect2/s001_variants/chr5_flt.vcf.gz results/indel-test/rnaseq/indel/mutect2/s001_variants/chr2_flt.vcf.gz results/indel-test/rnaseq/indel/mutect2/s001_variants/chr22_flt.vcf.gz results/indel-test/rnaseq/indel/mutect2/s001_variants/chr19_flt.vcf.gz results/indel-test/rnaseq/indel/mutect2/s001_variants/chr20_flt.vcf.gz results/indel-test/rnaseq/indel/mutect2/s001_variants/chr17_flt.vcf.gz results/indel-test/rnaseq/indel/mutect2/s001_variants/chr18_flt.vcf.gz results/indel-test/rnaseq/indel/mutect2/s001_variants/chr16_flt.vcf.gz results/indel-test/rnaseq/indel/mutect2/s001_variants/chr7_flt.vcf.gz results/indel-test/rnaseq/indel/mutect2/s001_variants/chr4_flt.vcf.gz results/indel-test/rnaseq/indel/mutect2/s001_variants/chrX_flt.vcf.gz results/indel-test/rnaseq/indel/mutect2/s001_variants/chr1_flt.vcf.gz results/indel-test/rnaseq/indel/mutect2/s001_variants/chrY_flt.vcf.gz results/indel-test/rnaseq/indel/mutect2/s001_variants/chr15_flt.vcf.gz; Date=Fri May 17 17:54:12 2024 -##bcftools_concatVersion=1.9+htslib-1.9 -##bcftools_viewCommand=view -O z -o results/indel-test/rnaseq/indel/mutect2/s001_variants/chr21_flt.vcf.gz; Date=Fri May 17 17:31:38 2024 -##bcftools_viewVersion=1.9+htslib-1.9 -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##filtering_status=These calls have been filtered by FilterMutectCalls to label false positives with a list of failed filters and true positives with PASS. -##reference=file:///projects/b1171/sej9799/ScanNeo2_test/ScanNeo2/resources/refs/genome.fasta -##source=FilterMutectCalls -##source=SelectVariants -##tumor_sample=unknown -##INFO= -##INFO= -##bcftools_viewCommand=view -O z -o results/indel-test/rnaseq/indel/mutect2/s001_somatic.snvs.vcf.gz; Date=Fri May 17 17:54:16 2024 -##INFO= -##INFO= -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT unknown -chr1 187102 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=5;ECNT=1;GERMQ=52;MBQ=0,34;MFRL=0,0;MMQ=60,33;MPOS=11;POPAF=7.3;TLOD=14.08;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.764:4:0,0:0,2:0,2:0,0,2,2 -chr1 190768 . G A . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,22;MPOS=92;POPAF=7.3;TLOD=5.05;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 733895 . G T . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,21;MFRL=0,0;MMQ=60,25;MPOS=37;POPAF=7.3;TLOD=3.63;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 778051 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=1%2C2|1%2C1;DP=5;ECNT=3;GERMQ=38;MBQ=31,33;MFRL=0,0;MMQ=60,56;MPOS=55;POPAF=7.3;TLOD=6.38;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,2:0.4:5:0,0:1,1:2,1:1,2,1,1 -chr1 778906 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|2%2C1;DP=5;ECNT=2;GERMQ=37;MBQ=35,32;MFRL=0,0;MMQ=38,32;MPOS=45;POPAF=7.3;TLOD=9.25;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,3:0.6:5:0,0:1,2:1,2:1,1,2,1 -chr1 778906 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C0|1%2C1;DP=3;ECNT=1;GERMQ=38;MBQ=34,34;MFRL=0,0;MMQ=32,33;MPOS=88;POPAF=7.3;TLOD=6.78;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,2:0.5:3:0,0:1,1:1,1:1,0,1,1 -chr1 778984 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C0|1%2C1;DP=3;ECNT=2;GERMQ=38;MBQ=35,32;MFRL=0,0;MMQ=30,32;MPOS=123;POPAF=7.3;TLOD=6.37;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,2:0.5:3:0,0:1,1:1,1:1,0,1,1 -chr1 779196 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4%2C5|1%2C1;DP=11;ECNT=1;GERMQ=47;MBQ=33,33;MFRL=0,0;MMQ=53,60;MPOS=59;POPAF=7.3;TLOD=5.83;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:9,2:0.25:11:1,0:3,1:5,1:4,5,1,1 -chr1 779380 . G T . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C1|2%2C2;DP=5;ECNT=1;GERMQ=40;MBQ=34,33;MFRL=0,0;MMQ=36,26;MPOS=76;POPAF=7.3;TLOD=11.42;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,4:0.6:5:1,0:0,2:1,2:0,1,2,2 -chr1 779968 . T G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|5%2C6;DP=13;ECNT=1;GERMQ=72;MBQ=0,34;MFRL=0,0;MMQ=60,50;MPOS=65;POPAF=7.3;TLOD=39.07;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,11:0.88:11:0,1:0,5:0,6:0,0,5,6 -chr1 779968 . T G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C8;DP=12;ECNT=1;GERMQ=76;MBQ=0,34;MFRL=0,0;MMQ=60,39;MPOS=81;POPAF=7.3;TLOD=43.17;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,12:0.9:12:0,3:0,4:0,8:0,0,4,8 -chr1 780634 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,29;MFRL=0,0;MMQ=60,32;MPOS=16;POPAF=7.3;TLOD=3.08;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 781047 . C T . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=2%2C2|1%2C1;DP=6;ECNT=1;GERMQ=39;MBQ=34,34;MFRL=0,0;MMQ=22,24;MPOS=82;POPAF=7.3;TLOD=4.67;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,2:0.4:6:0,0:2,1:2,1:2,2,1,1 -chr1 783175 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C1;DP=3;ECNT=1;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,32;MPOS=13;POPAF=7.3;TLOD=10.65;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,0:0,2:0,2:0,0,2,1 -chr1 783175 . T C . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|3%2C2;DP=5;ECNT=1;GERMQ=55;MBQ=0,34;MFRL=0,0;MMQ=60,27;MPOS=34;POPAF=7.3;TLOD=14.88;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.8:5:0,0:0,3:0,3:0,0,3,2 -chr1 794299 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,34;MPOS=52;POPAF=7.3;TLOD=7.35;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 797585 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=2;GERMQ=46;MBQ=0,32;MFRL=0,0;MMQ=60,31;MPOS=21;POPAF=7.3;TLOD=6.85;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 797585 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C0|1%2C2;DP=4;ECNT=2;GERMQ=39;MBQ=34,34;MFRL=0,0;MMQ=22,31;MPOS=35;POPAF=7.3;TLOD=8.75;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,3:0.601:4:0,1:1,1:1,2:1,0,1,2 -chr1 797609 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=2;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,31;MPOS=7;POPAF=7.3;TLOD=3.28;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,0:0,1:0,0,0,1 -chr1 797609 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=2;GERMQ=47;MBQ=0,34;MFRL=0,0;MMQ=60,32;MPOS=31;POPAF=7.3;TLOD=5.95;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 806366 . A G . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,34;MFRL=0,0;MMQ=60,21;MPOS=79;POPAF=7.3;TLOD=4.85;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 809378 . C A . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=1%2C2|1%2C1;DP=5;ECNT=1;GERMQ=38;MBQ=34,33;MFRL=0,0;MMQ=22,21;MPOS=67;POPAF=7.3;TLOD=4.07;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,2:0.4:5:1,0:1,1:2,1:1,2,1,1 -chr1 817186 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|6%2C5;DP=12;ECNT=4;GERMQ=72;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=45;POPAF=7.3;TLOD=33.35;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,11:0.889:11:0,1:0,5:0,7:0,0,6,5 -chr1 817186 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|11%2C11;DP=23;ECNT=2;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,38;MPOS=79;POPAF=7.3;TLOD=77.24;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,22:0.933:22:0,2:0,11:0,13:0,0,11,11 -chr1 817257 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=3%2C1|2%2C4;DP=10;ECNT=4;GERMQ=35;MBQ=31,34;MFRL=0,0;MMQ=45,60;MPOS=77;POPAF=7.3;TLOD=20.61;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,6:0.556:10:0,0:3,2:3,4:3,1,2,4 -chr1 817257 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=5%2C2|7%2C11;DP=27;ECNT=3;GERMQ=42;MBQ=32,34;MFRL=0,0;MMQ=60,60;MPOS=57;POPAF=7.3;TLOD=60.22;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,18:0.632:25:1,4:5,7:6,11:5,2,7,11 -chr1 817285 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=13%2C12|1%2C1;DP=28;ECNT=3;GERMQ=83;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=42;POPAF=7.3;TLOD=5.17;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:25,2:0.118:27:1,0:13,1:14,1:13,12,1,1 -chr1 817341 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|9%2C10;DP=19;ECNT=3;GERMQ=93;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=63;POPAF=7.3;TLOD=62.54;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,19:0.917:19:0,0:0,6:0,10:0,0,9,10 -chr1 817889 . C G . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,33;MFRL=0,0;MMQ=60,21;MPOS=132;POPAF=7.3;TLOD=4.85;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 818094 . C G . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|2%2C1;DP=3;ECNT=1;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,28;MPOS=26;POPAF=7.3;TLOD=9.35;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,0:0,2:0,2:0,0,2,1 -chr1 818094 . C G . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|3%2C3;DP=6;ECNT=1;GERMQ=58;MBQ=0,34;MFRL=0,0;MMQ=60,28;MPOS=105;POPAF=7.3;TLOD=19.06;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.833:6:0,1:0,3:0,4:0,0,3,3 -chr1 818802 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C2;DP=6;ECNT=2;GERMQ=58;MBQ=0,32;MFRL=0,0;MMQ=60,41;MPOS=94;POPAF=7.3;TLOD=26.3;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,6:0.833:6:0,0:0,4:0,4:0|1:818802_A_G:818802:0,0,4,2 -chr1 818802 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=2;GERMQ=44;MBQ=0,31;MFRL=0,0;MMQ=60,41;MPOS=58;POPAF=7.3;TLOD=4.2;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,1:0,0:0,1:0|1:818802_A_G:818802:0,0,0,1 -chr1 818812 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C2;DP=6;ECNT=2;GERMQ=58;MBQ=0,32;MFRL=0,0;MMQ=60,41;MPOS=85;POPAF=7.3;TLOD=26.3;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,6:0.833:6:0,0:0,4:0,4:0|1:818802_A_G:818802:0,0,4,2 -chr1 818812 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=2;GERMQ=44;MBQ=0,35;MFRL=0,0;MMQ=60,41;MPOS=68;POPAF=7.3;TLOD=4.13;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.684:1:0,1:0,0:0,1:0|1:818802_A_G:818802:0,0,0,1 -chr1 818954 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=1;GERMQ=49;MBQ=0,32;MFRL=0,0;MMQ=60,41;MPOS=53;POPAF=7.3;TLOD=10.35;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.8:3:0,2:0,1:0,3:0,0,1,2 -chr1 818954 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=6;ECNT=1;GERMQ=52;MBQ=0,32;MFRL=0,0;MMQ=60,31;MPOS=96;POPAF=7.3;TLOD=10.49;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.764:4:0,0:0,2:0,2:0,0,2,2 -chr1 819123 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C3;DP=6;ECNT=1;GERMQ=58;MBQ=0,33;MFRL=0,0;MMQ=60,54;MPOS=85;POPAF=7.3;TLOD=21.26;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.833:6:0,1:0,3:0,4:0,0,3,3 -chr1 819123 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C3;DP=5;ECNT=2;GERMQ=55;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=27;POPAF=7.3;TLOD=18.28;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.8:5:0,1:0,2:0,3:0,0,2,3 -chr1 819142 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C1;DP=4;ECNT=2;GERMQ=37;MBQ=34,29;MFRL=0,0;MMQ=60,51;MPOS=46;POPAF=7.3;TLOD=5.97;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.5:4:0,0:1,1:1,1:1,1,1,1 -chr1 819584 . C T . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,32;MFRL=0,0;MMQ=60,21;MPOS=29;POPAF=7.3;TLOD=4.85;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 820395 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=111;POPAF=7.3;TLOD=7.35;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 821000 . T A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,29;MFRL=0,0;MMQ=60,60;MPOS=83;POPAF=7.3;TLOD=3.08;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 821224 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C3;DP=5;ECNT=1;GERMQ=55;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=24;POPAF=7.3;TLOD=17.3;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.8:5:0,1:0,2:0,3:0,0,2,3 -chr1 822260 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=47;POPAF=7.3;TLOD=3.48;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 822354 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,28;MFRL=0,0;MMQ=60,60;MPOS=101;POPAF=7.3;TLOD=6.25;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 822469 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=125;POPAF=7.3;TLOD=7.05;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 822556 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=38;POPAF=7.3;TLOD=7.25;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 822764 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=122;POPAF=7.3;TLOD=7.15;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 822907 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=2;GERMQ=47;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=128;POPAF=7.3;TLOD=7.45;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 822944 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=107;POPAF=7.3;TLOD=7.45;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 822944 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=2;GERMQ=47;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=91;POPAF=7.3;TLOD=7.45;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 823246 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=102;POPAF=7.3;TLOD=7.02;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 823246 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C1;DP=3;ECNT=1;GERMQ=50;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=44;POPAF=7.3;TLOD=10.75;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,0:0,2:0,2:0,0,2,1 -chr1 825532 . C T . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,33;MFRL=0,0;MMQ=60,21;MPOS=60;POPAF=7.3;TLOD=4.85;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 825767 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=1;GERMQ=52;MBQ=0,34;MFRL=0,0;MMQ=60,45;MPOS=126;POPAF=7.3;TLOD=14.63;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 825767 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=1;GERMQ=52;MBQ=0,34;MFRL=0,0;MMQ=60,40;MPOS=77;POPAF=7.3;TLOD=12.45;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.8:4:0,1:0,2:0,3:0,0,2,2 -chr1 826352 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,31;MFRL=0,0;MMQ=60,44;MPOS=11;POPAF=7.3;TLOD=3.28;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 826893 . G A . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,33;MFRL=0,0;MMQ=60,22;MPOS=41;POPAF=7.3;TLOD=5.05;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 827209 . G C . clustered_events;haplotype;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=3;GERMQ=47;MBQ=0,33;MFRL=0,0;MMQ=60,20;MPOS=22;POPAF=7.3;TLOD=8.7;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,2:0.667:2:0,0:0,1:0,1:0|1:827209_G_C:827209:0,0,1,1 -chr1 827212 . C G . clustered_events;haplotype;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=3;GERMQ=47;MBQ=0,33;MFRL=0,0;MMQ=60,20;MPOS=19;POPAF=7.3;TLOD=8.7;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,2:0.667:2:0,0:0,1:0,1:0|1:827209_G_C:827209:0,0,1,1 -chr1 827221 . T C . clustered_events;haplotype;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=3;GERMQ=47;MBQ=0,31;MFRL=0,0;MMQ=60,20;MPOS=10;POPAF=7.3;TLOD=8.7;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,2:0.667:2:0,0:0,1:0,1:0|1:827209_G_C:827209:0,0,1,1 -chr1 837375 . A C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,38;MPOS=93;POPAF=7.3;TLOD=7.25;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 838563 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,29;MFRL=0,0;MMQ=60,50;MPOS=78;POPAF=7.3;TLOD=3.08;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,0:0,1:0,0,0,1 -chr1 839356 . A C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,31;MFRL=0,0;MMQ=60,37;MPOS=121;POPAF=7.3;TLOD=6.68;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.75:2:0,2:0,0:0,2:0,0,0,2 -chr1 839405 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,25;MFRL=0,0;MMQ=60,46;MPOS=45;POPAF=7.3;TLOD=4.43;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 839494 . A C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=2;GERMQ=47;MBQ=0,33;MFRL=0,0;MMQ=60,46;MPOS=134;POPAF=7.3;TLOD=8.7;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,2:0.667:2:0,0:0,1:0,1:0|1:839494_A_C:839494:0,0,1,1 -chr1 839503 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=2;GERMQ=47;MBQ=0,32;MFRL=0,0;MMQ=60,46;MPOS=143;POPAF=7.3;TLOD=8.7;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,2:0.667:2:0,0:0,1:0,1:0|1:839494_A_C:839494:0,0,1,1 -chr1 841462 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=19%2C19|1%2C1;DP=40;ECNT=1;GERMQ=93;MBQ=33,31;MFRL=0,0;MMQ=54,35;MPOS=38;POPAF=7.3;TLOD=4.35;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:38,2:0.083:40:2,0:19,1:21,1:19,19,1,1 -chr1 841742 . A T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|10%2C12;DP=26;ECNT=1;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,31;MPOS=70;POPAF=7.3;TLOD=72.93;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,22:0.93:22:0,0:0,10:0,12:0,0,10,12 -chr1 841742 . A T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|9%2C14;DP=25;ECNT=1;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,31;MPOS=69;POPAF=7.3;TLOD=73.02;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,23:0.939:23:0,5:0,9:0,14:0,0,9,14 -chr1 842714 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=18%2C13|1%2C1;DP=35;ECNT=1;GERMQ=93;MBQ=33,30;MFRL=0,0;MMQ=60,60;MPOS=51;POPAF=7.3;TLOD=4.29;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:31,2:0.09:33:1,0:18,1:19,1:18,13,1,1 -chr1 843189 . A G . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|11%2C13;DP=25;ECNT=1;GERMQ=93;MBQ=0,32;MFRL=0,0;MMQ=60,25;MPOS=95;POPAF=7.3;TLOD=73.31;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,24:0.941:24:0,4:0,11:0,15:0,0,11,13 -chr1 843189 . A G . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|10%2C10;DP=21;ECNT=1;GERMQ=93;MBQ=0,32;MFRL=0,0;MMQ=60,27;MPOS=43;POPAF=7.3;TLOD=60.62;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,20:0.937:20:0,3:0,10:0,14:0,0,10,10 -chr1 843390 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C2|1%2C1;DP=6;ECNT=1;GERMQ=39;MBQ=34,32;MFRL=0,0;MMQ=23,42;MPOS=99;POPAF=7.3;TLOD=6.05;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,2:0.334:6:0,0:2,1:3,1:2,2,1,1 -chr1 844097 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=12%2C9|1%2C1;DP=26;ECNT=1;GERMQ=74;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=47;POPAF=7.3;TLOD=5.37;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:21,2:0.13:23:0,0:12,1:12,1:12,9,1,1 -chr1 844394 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=6%2C6|1%2C1;DP=14;ECNT=1;GERMQ=53;MBQ=34,31;MFRL=0,0;MMQ=60,60;MPOS=46;POPAF=7.3;TLOD=5.41;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:12,2:0.222:14:0,0:6,1:6,1:6,6,1,1 -chr1 844647 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|5%2C3;DP=8;ECNT=1;GERMQ=63;MBQ=0,33;MFRL=0,0;MMQ=60,48;MPOS=31;POPAF=7.3;TLOD=29.04;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.857:8:0,0:0,5:0,5:0,0,5,3 -chr1 844647 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C1;DP=3;ECNT=1;GERMQ=50;MBQ=0,33;MFRL=0,0;MMQ=60,55;MPOS=90;POPAF=7.3;TLOD=10.95;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,0:0,2:0,2:0,0,2,1 -chr1 845405 . T A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C4;DP=8;ECNT=1;GERMQ=63;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=109;POPAF=7.3;TLOD=28.22;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.833:8:0,0:0,4:0,4:0,0,4,4 -chr1 846240 . A G . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=2%2C4|1%2C1;DP=8;ECNT=1;GERMQ=42;MBQ=32,31;MFRL=0,0;MMQ=22,21;MPOS=138;POPAF=7.3;TLOD=3.67;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,2:0.286:8:2,0:2,1:4,1:2,4,1,1 -chr1 847821 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,31;MPOS=126;POPAF=7.3;TLOD=3.28;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 849670 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C2;DP=5;ECNT=1;GERMQ=55;MBQ=0,33;MFRL=0,0;MMQ=60,44;MPOS=63;POPAF=7.3;TLOD=17.55;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.8:5:0,0:0,3:0,3:0,0,3,2 -chr1 849670 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,34;MFRL=0,0;MMQ=60,54;MPOS=90;POPAF=7.3;TLOD=7.35;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 850142 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=25;POPAF=7.3;TLOD=3.48;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 851882 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=1;GERMQ=52;MBQ=0,32;MFRL=0,0;MMQ=60,44;MPOS=26;POPAF=7.3;TLOD=13.4;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 851882 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,34;MFRL=0,0;MMQ=60,47;MPOS=9;POPAF=7.3;TLOD=7.35;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 852019 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|12%2C9;DP=24;ECNT=1;GERMQ=71;MBQ=31,33;MFRL=0,0;MMQ=60,44;MPOS=83;POPAF=7.3;TLOD=73.51;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,21:0.896:23:0,4:1,12:1,16:1,1,12,9 -chr1 852019 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|10%2C9;DP=19;ECNT=1;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,42;MPOS=76;POPAF=7.3;TLOD=64.17;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,19:0.923:19:0,1:0,10:0,11:0,0,10,9 -chr1 852305 . G T . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,32;MFRL=0,0;MMQ=60,21;MPOS=66;POPAF=7.3;TLOD=4.85;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 853565 . G C . haplotype;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|0%2C0;DP=3;ECNT=2;GERMQ=46;MBQ=0,32;MFRL=0,0;MMQ=60,25;MPOS=128;POPAF=7.3;TLOD=8.47;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,2:0.764:2:0,0:0,1:0,2:0|1:853565_G_C:853565:0,0,1,1 -chr1 853565 . G C . haplotype;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=1%2C1|3%2C2;DP=8;ECNT=2;GERMQ=38;MBQ=31,33;MFRL=0,0;MMQ=21,28;MPOS=122;POPAF=7.3;TLOD=19.24;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:2,5:0.671:7:0,0:1,3:1,3:0|1:853565_G_C:853565:1,1,3,2 -chr1 853572 . G A . haplotype;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=2;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,25;MPOS=135;POPAF=7.3;TLOD=8.52;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,2:0.75:2:0,0:0,1:0,2:0|1:853565_G_C:853565:0,0,1,1 -chr1 853572 . G A . haplotype;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C1|3%2C2;DP=6;ECNT=2;GERMQ=42;MBQ=34,33;MFRL=0,0;MMQ=20,28;MPOS=126;POPAF=7.3;TLOD=19.27;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:1,5:0.666:6:0,0:0,2:1,3:0|1:853565_G_C:853565:0,1,3,2 -chr1 855637 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=11%2C7|1%2C1;DP=20;ECNT=1;GERMQ=66;MBQ=34,33;MFRL=0,0;MMQ=42,40;MPOS=8;POPAF=7.3;TLOD=5.23;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:18,2:0.125:20:1,0:11,1:13,1:11,7,1,1 -chr1 855732 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=12%2C13|1%2C1;DP=27;ECNT=1;GERMQ=83;MBQ=33,33;MFRL=0,0;MMQ=40,42;MPOS=130;POPAF=7.3;TLOD=5.17;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:25,2:0.118:27:1,0:12,1:14,1:12,13,1,1 -chr1 855801 . A G . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=4%2C10|1%2C1;DP=20;ECNT=1;GERMQ=57;MBQ=32,33;MFRL=0,0;MMQ=32,24;MPOS=104;POPAF=7.3;TLOD=3.54;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:14,2:0.141:16:4,0:4,1:11,1:4,10,1,1 -chr1 856029 . T C . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=9%2C5|1%2C1;DP=16;ECNT=1;GERMQ=57;MBQ=32,31;MFRL=0,0;MMQ=22,22;MPOS=130;POPAF=7.3;TLOD=3.31;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:14,2:0.167:16:0,0:9,1:9,1:9,5,1,1 -chr1 856666 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=19%2C15|1%2C1;DP=36;ECNT=3;GERMQ=93;MBQ=33,33;MFRL=0,0;MMQ=40,48;MPOS=26;POPAF=7.3;TLOD=4.89;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:34,2:0.087:36:0,0:18,1:20,1:19,15,1,1 -chr1 856691 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=20%2C15|1%2C1;DP=37;ECNT=3;GERMQ=93;MBQ=33,33;MFRL=0,0;MMQ=43,52;MPOS=79;POPAF=7.3;TLOD=4.81;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:35,2:0.08:37:0,0:20,1:22,1:20,15,1,1 -chr1 856716 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=18%2C13|1%2C1;DP=34;ECNT=3;GERMQ=93;MBQ=33,34;MFRL=0,0;MMQ=46,54;MPOS=89;POPAF=7.3;TLOD=5.01;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:31,2:0.08:33:0,0:18,1:22,1:18,13,1,1 -chr1 856883 . A G . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|4%2C5;DP=11;ECNT=1;GERMQ=66;MBQ=0,35;MFRL=0,0;MMQ=60,21;MPOS=102;POPAF=7.3;TLOD=22.37;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,9:0.906:9:0,4:0,4:0,8:0,0,4,5 -chr1 856883 . A G . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|8%2C7;DP=16;ECNT=1;GERMQ=85;MBQ=0,32;MFRL=0,0;MMQ=60,21;MPOS=93;POPAF=7.3;TLOD=38.61;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,15:0.909:15:0,0:0,8:0,9:0,0,8,7 -chr1 857100 . C T . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|9%2C7;DP=16;ECNT=1;GERMQ=87;MBQ=0,32;MFRL=0,0;MMQ=60,21;MPOS=69;POPAF=7.3;TLOD=40.02;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,16:0.917:16:0,1:0,8:0,10:0,0,9,7 -chr1 857100 . C T . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|12%2C11;DP=23;ECNT=1;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,21;MPOS=97;POPAF=7.3;TLOD=59.53;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,23:0.937:23:0,2:0,12:0,14:0,0,12,11 -chr1 857234 . T C . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=7%2C10|1%2C1;DP=19;ECNT=1;GERMQ=64;MBQ=33,34;MFRL=0,0;MMQ=24,23;MPOS=40;POPAF=7.3;TLOD=3.43;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:17,2:0.154:19:3,0:7,1:10,1:7,10,1,1 -chr1 859348 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C2|1%2C1;DP=5;ECNT=1;GERMQ=38;MBQ=33,24;MFRL=0,0;MMQ=43,36;MPOS=113;POPAF=7.3;TLOD=3.75;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,2:0.4:5:1,0:1,0:2,1:1,2,1,1 -chr1 897018 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,35;MFRL=0,0;MMQ=60,45;MPOS=106;POPAF=7.3;TLOD=7.05;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 901763 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C1;DP=4;ECNT=1;GERMQ=37;MBQ=34,34;MFRL=0,0;MMQ=60,60;MPOS=43;POPAF=7.3;TLOD=6.88;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.5:4:0,0:1,1:1,1:1,1,1,1 -chr1 902641 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=73;POPAF=7.3;TLOD=7.02;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 903007 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=2;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=51;POPAF=7.3;TLOD=7.45;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 903011 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=135;POPAF=7.3;TLOD=3.28;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 904947 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C2|2%2C2;DP=9;ECNT=1;GERMQ=37;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=116;POPAF=7.3;TLOD=13.03;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:5,4:0.429:9:0,0:3,2:3,2:3,2,2,2 -chr1 905705 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C4|2%2C3;DP=13;ECNT=1;GERMQ=37;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=89;POPAF=7.3;TLOD=16.64;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,5:0.444:12:1,0:3,2:4,3:3,4,2,3 -chr1 905705 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C2|1%2C2;DP=8;ECNT=1;GERMQ=38;MBQ=32,34;MFRL=0,0;MMQ=60,60;MPOS=119;POPAF=7.3;TLOD=9.48;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:5,3:0.5:8:0,1:3,1:3,3:3,2,1,2 -chr1 906122 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=9%2C11|1%2C1;DP=22;ECNT=1;GERMQ=71;MBQ=31,33;MFRL=0,0;MMQ=60,60;MPOS=109;POPAF=7.3;TLOD=5.36;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:20,2:0.143:22:2,0:8,1:11,1:9,11,1,1 -chr1 906535 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=11%2C11|1%2C1;DP=24;ECNT=2;GERMQ=76;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=125;POPAF=7.3;TLOD=5.14;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:22,2:0.126:24:1,0:10,1:13,1:11,11,1,1 -chr1 906633 . T G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C3|2%2C2;DP=12;ECNT=2;GERMQ=37;MBQ=31,34;MFRL=0,0;MMQ=60,60;MPOS=78;POPAF=7.3;TLOD=12.47;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,4:0.427:10:0,0:3,2:3,2:3,3,2,2 -chr1 906982 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|8%2C8;DP=17;ECNT=2;GERMQ=87;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=40;POPAF=7.3;TLOD=64.21;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,16:0.909:16:0,0:0,8:0,9:0|1:906982_C_T:906982:0,0,8,8 -chr1 906982 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|10%2C8;DP=19;ECNT=2;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=45;POPAF=7.3;TLOD=74.34;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,18:0.919:18:0,0:0,10:0,10:0|1:906982_C_T:906982:0,0,10,8 -chr1 907022 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C4|5%2C4;DP=16;ECNT=2;GERMQ=35;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=89;POPAF=7.3;TLOD=29.02;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:7,9:0.583:16:0,0:3,5:4,6:0|1:906982_C_T:906982:3,4,5,4 -chr1 907022 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5%2C7|3%2C4;DP=19;ECNT=2;GERMQ=38;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=72;POPAF=7.3;TLOD=21.74;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:12,7:0.385:19:0,0:5,3:7,4:0|1:906982_C_T:906982:5,7,3,4 -chr1 907445 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=91;POPAF=7.3;TLOD=7.35;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 907445 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=126;POPAF=7.3;TLOD=3.48;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,0:0,1:0,0,0,1 -chr1 908025 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C2|3%2C2;DP=9;ECNT=1;GERMQ=36;MBQ=31,32;MFRL=0,0;MMQ=60,60;MPOS=64;POPAF=7.3;TLOD=16.71;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,5:0.571:9:0,0:2,3:2,3:2,2,3,2 -chr1 908025 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=7%2C7|2%2C4;DP=21;ECNT=1;GERMQ=42;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=65;POPAF=7.3;TLOD=19.08;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:14,6:0.361:20:0,0:6,2:8,4:7,7,2,4 -chr1 908285 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C5|1%2C1;DP=9;ECNT=1;GERMQ=43;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=24;POPAF=7.3;TLOD=5.7;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,2:0.25:9:2,0:2,1:5,1:2,5,1,1 -chr1 909894 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|2%2C2;DP=6;ECNT=2;GERMQ=36;MBQ=34,31;MFRL=0,0;MMQ=60,60;MPOS=83;POPAF=7.3;TLOD=13.23;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:2,4:0.6:6:0,0:1,2:1,2:0|1:909894_G_T:909894:1,1,2,2 -chr1 909903 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C3;DP=6;ECNT=2;GERMQ=58;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=88;POPAF=7.3;TLOD=24.95;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,6:0.8:6:0,0:0,3:0,3:0|1:909894_G_T:909894:0,0,3,3 -chr1 910255 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|3%2C2;DP=7;ECNT=1;GERMQ=37;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=20;POPAF=7.3;TLOD=16.78;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,5:0.667:7:0,0:1,3:1,3:1,1,3,2 -chr1 910462 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4%2C5|1%2C1;DP=12;ECNT=1;GERMQ=47;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=128;POPAF=7.3;TLOD=5.71;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:9,2:0.222:11:1,0:4,1:6,1:4,5,1,1 -chr1 910558 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=6%2C5|3%2C3;DP=17;ECNT=1;GERMQ=39;MBQ=35,33;MFRL=0,0;MMQ=60,60;MPOS=60;POPAF=7.3;TLOD=16.9;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:11,6:0.498:17:0,1:5,3:5,5:6,5,3,3 -chr1 910558 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|2%2C3;DP=7;ECNT=1;GERMQ=38;MBQ=35,33;MFRL=0,0;MMQ=60,60;MPOS=120;POPAF=7.3;TLOD=17.04;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,5:0.667:7:0,1:1,2:1,3:1,1,2,3 -chr1 910698 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C2|1%2C2;DP=7;ECNT=1;GERMQ=37;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=93;POPAF=7.3;TLOD=9.55;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,3:0.571:7:0,1:2,1:2,3:2,2,1,2 -chr1 910698 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5%2C4|1%2C2;DP=12;ECNT=1;GERMQ=43;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=126;POPAF=7.3;TLOD=9.11;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:9,3:0.333:12:0,1:5,1:5,2:5,4,1,2 -chr1 910958 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|7%2C4;DP=11;ECNT=5;GERMQ=72;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=58;POPAF=7.3;TLOD=42.05;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,11:0.889:11:0,0:0,7:0,7:0,0,7,4 -chr1 910958 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C5;DP=10;ECNT=2;GERMQ=67;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=86;POPAF=7.3;TLOD=30.12;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,9:0.864:9:0,1:0,4:0,5:0,0,4,5 -chr1 911018 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=4%2C3|6%2C5;DP=18;ECNT=5;GERMQ=35;MBQ=35,31;MFRL=0,0;MMQ=60,60;MPOS=24;POPAF=7.3;TLOD=33.25;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,11:0.583:18:1,0:3,6:4,6:4,3,6,5 -chr1 911018 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C3|3%2C4;DP=13;ECNT=2;GERMQ=35;MBQ=35,33;MFRL=0,0;MMQ=60,60;MPOS=52;POPAF=7.3;TLOD=22.79;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,7:0.555:13:0,0:3,3:3,4:3,3,3,4 -chr1 911033 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=9%2C8|1%2C1;DP=19;ECNT=5;GERMQ=64;MBQ=34,32;MFRL=0,0;MMQ=60,60;MPOS=140;POPAF=7.3;TLOD=5.31;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:17,2:0.167:19:1,0:8,1:9,1:9,8,1,1 -chr1 911109 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|8%2C10;DP=19;ECNT=5;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=90;POPAF=7.3;TLOD=66.49;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,18:0.925:18:0,1:0,7:0,11:0,0,8,10 -chr1 911109 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|6%2C6;DP=13;ECNT=1;GERMQ=76;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=31;POPAF=7.3;TLOD=45.32;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,12:0.889:12:0,0:0,6:0,7:0,0,6,6 -chr1 911219 . T G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5%2C5|1%2C1;DP=12;ECNT=2;GERMQ=49;MBQ=33,30;MFRL=0,0;MMQ=60,60;MPOS=25;POPAF=7.3;TLOD=5.33;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:10,2:0.25:12:0,0:5,1:5,1:0|1:911219_T_G:911219:5,5,1,1 -chr1 911428 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=1%2C0|3%2C3;DP=7;ECNT=3;GERMQ=44;MBQ=35,33;MFRL=0,0;MMQ=60,60;MPOS=73;POPAF=7.3;TLOD=21.36;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,6:0.667:7:0,0:1,3:1,3:1,0,3,3 -chr1 911484 . G C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C1;DP=4;ECNT=3;GERMQ=37;MBQ=34,34;MFRL=0,0;MMQ=60,60;MPOS=87;POPAF=7.3;TLOD=6.88;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.5:4:0,0:1,1:1,1:1,1,1,1 -chr1 911523 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C1;DP=4;ECNT=3;GERMQ=37;MBQ=32,32;MFRL=0,0;MMQ=60,60;MPOS=78;POPAF=7.3;TLOD=6.58;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.5:4:0,0:1,1:1,1:1,1,1,1 -chr1 911848 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4%2C4|1%2C1;DP=10;ECNT=2;GERMQ=45;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=38;POPAF=7.3;TLOD=6.18;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:8,2:0.286:10:0,0:4,1:4,1:4,4,1,1 -chr1 911848 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=2;GERMQ=47;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=79;POPAF=7.3;TLOD=7.25;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 911870 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|7%2C7;DP=14;ECNT=2;GERMQ=81;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=63;POPAF=7.3;TLOD=50.17;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,14:0.889:14:0,0:0,7:0,7:0,0,7,7 -chr1 911870 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C3;DP=6;ECNT=2;GERMQ=58;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=14;POPAF=7.3;TLOD=21.86;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.8:6:0,0:0,3:0,3:0,0,3,3 -chr1 912111 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C2|1%2C1;DP=7;ECNT=1;GERMQ=39;MBQ=34,32;MFRL=0,0;MMQ=60,60;MPOS=9;POPAF=7.3;TLOD=6.23;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,2:0.396:6:0,0:2,1:2,1:2,2,1,1 -chr1 912111 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C0|2%2C2;DP=7;ECNT=1;GERMQ=37;MBQ=31,33;MFRL=0,0;MMQ=60,60;MPOS=65;POPAF=7.3;TLOD=13.19;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,4:0.5:6:0,0:2,2:2,2:2,0,2,2 -chr1 912710 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C2;DP=6;ECNT=1;GERMQ=37;MBQ=32,34;MFRL=0,0;MMQ=60,60;MPOS=4;POPAF=7.3;TLOD=10.25;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,3:0.6:5:0,0:1,1:1,2:1,1,1,2 -chr1 913065 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=3%2C3|2%2C3;DP=11;ECNT=3;GERMQ=36;MBQ=32,31;MFRL=0,0;MMQ=60,60;MPOS=23;POPAF=7.3;TLOD=13.01;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,5:0.444:11:2,1:2,2:4,3:3,3,2,3 -chr1 913065 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=2;GERMQ=50;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=137;POPAF=7.3;TLOD=10.35;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,1:0,1:0,2:0,0,1,2 -chr1 913076 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=3%2C3|3%2C4;DP=13;ECNT=3;GERMQ=35;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=31;POPAF=7.3;TLOD=23.19;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,7:0.556:13:1,1:2,3:3,4:3,3,3,4 -chr1 913076 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C1;DP=4;ECNT=2;GERMQ=50;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=8;POPAF=7.3;TLOD=10.59;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.811:3:0,1:0,2:0,3:0,0,2,1 -chr1 913086 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=5%2C6|1%2C1;DP=13;ECNT=3;GERMQ=51;MBQ=35,32;MFRL=0,0;MMQ=60,60;MPOS=34;POPAF=7.3;TLOD=5.51;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:11,2:0.222:13:1,1:5,0:6,1:5,6,1,1 -chr1 913337 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=6%2C7|1%2C1;DP=16;ECNT=3;GERMQ=55;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=78;POPAF=7.3;TLOD=5.47;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:13,2:0.197:15:0,0:6,1:7,1:6,7,1,1 -chr1 913358 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=4%2C3|3%2C3;DP=14;ECNT=3;GERMQ=36;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=70;POPAF=7.3;TLOD=19.36;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,6:0.4:13:0,0:4,3:5,3:4,3,3,3 -chr1 913358 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C4|2%2C1;DP=11;ECNT=2;GERMQ=40;MBQ=32,28;MFRL=0,0;MMQ=60,60;MPOS=10;POPAF=7.3;TLOD=8.31;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,3:0.375:10:0,0:3,2:4,2:3,4,2,1 -chr1 914618 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C5;DP=10;ECNT=1;GERMQ=66;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=96;POPAF=7.3;TLOD=33.21;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,9:0.857:9:0,1:0,3:0,5:0,0,4,5 -chr1 914618 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C3;DP=6;ECNT=1;GERMQ=58;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=77;POPAF=7.3;TLOD=21.93;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.833:6:0,1:0,3:0,4:0,0,3,3 -chr1 914991 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=19;POPAF=7.3;TLOD=3.38;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 915810 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C3|6%2C4;DP=16;ECNT=2;GERMQ=35;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=78;POPAF=7.3;TLOD=48.47;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:6,10:0.636:16:0,0:3,6:3,6:0|1:915810_G_A:915810:3,3,6,4 -chr1 915810 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5%2C5|1%2C1;DP=12;ECNT=2;GERMQ=48;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=37;POPAF=7.3;TLOD=7.38;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:10,2:0.25:12:0,0:5,1:5,1:0|1:915810_G_A:915810:5,5,1,1 -chr1 915824 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C3|7%2C7;DP=20;ECNT=2;GERMQ=39;MBQ=35,35;MFRL=0,0;MMQ=60,60;MPOS=82;POPAF=7.3;TLOD=55.04;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:6,14:0.667:20:0,0:3,7:3,7:0|1:915810_G_A:915810:3,3,7,7 -chr1 915824 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5%2C5|1%2C1;DP=12;ECNT=2;GERMQ=48;MBQ=34,35;MFRL=0,0;MMQ=60,60;MPOS=51;POPAF=7.3;TLOD=7.38;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:10,2:0.25:12:0,0:5,1:5,1:0|1:915810_G_A:915810:5,5,1,1 -chr1 916119 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C1;DP=5;ECNT=1;GERMQ=55;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=32;POPAF=7.3;TLOD=17.69;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.833:5:0,0:0,4:0,4:0,0,4,1 -chr1 916119 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C3;DP=7;ECNT=1;GERMQ=58;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=43;POPAF=7.3;TLOD=20.9;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.841:6:0,1:0,3:0,4:0,0,3,3 -chr1 916254 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=6%2C8|1%2C1;DP=16;ECNT=1;GERMQ=57;MBQ=33,31;MFRL=0,0;MMQ=60,60;MPOS=131;POPAF=7.3;TLOD=5.2;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:14,2:0.182:16:2,0:6,1:8,1:6,8,1,1 -chr1 916377 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=1;GERMQ=52;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=28;POPAF=7.3;TLOD=14.71;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.8:4:0,1:0,2:0,3:0,0,2,2 -chr1 916377 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=1;GERMQ=50;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=92;POPAF=7.3;TLOD=10.73;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,1:0,1:0,2:0,0,1,2 -chr1 916657 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=2%2C2|6%2C7;DP=18;ECNT=3;GERMQ=42;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=87;POPAF=7.3;TLOD=45.17;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,13:0.692:17:1,1:2,6:3,8:2,2,6,7 -chr1 916683 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=3%2C3|4%2C5;DP=16;ECNT=3;GERMQ=35;MBQ=32,32;MFRL=0,0;MMQ=60,60;MPOS=90;POPAF=7.3;TLOD=30.17;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,9:0.546:15:1,1:3,4:4,5:3,3,4,5 -chr1 916753 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|5%2C7;DP=12;ECNT=3;GERMQ=75;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=78;POPAF=7.3;TLOD=43.87;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,12:0.9:12:0,1:0,5:0,8:0,0,5,7 -chr1 916753 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=1;GERMQ=52;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=57;POPAF=7.3;TLOD=14.4;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 917166 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=11%2C8|1%2C1;DP=21;ECNT=1;GERMQ=69;MBQ=34,31;MFRL=0,0;MMQ=60,60;MPOS=122;POPAF=7.3;TLOD=4.86;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:19,2:0.143:21:0,0:11,1:11,1:11,8,1,1 -chr1 917284 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C3|2%2C3;DP=11;ECNT=2;GERMQ=36;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=65;POPAF=7.3;TLOD=15.64;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,5:0.444:11:1,1:3,2:4,3:3,3,2,3 -chr1 917284 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4%2C5|4%2C2;DP=15;ECNT=2;GERMQ=37;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=116;POPAF=7.3;TLOD=18.96;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:9,6:0.455:15:1,0:4,4:5,4:4,5,4,2 -chr1 917378 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=8%2C6|4%2C1;DP=19;ECNT=2;GERMQ=45;MBQ=34,35;MFRL=0,0;MMQ=60,60;MPOS=73;POPAF=7.3;TLOD=15.48;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:14,5:0.333:19:1,0:8,4:9,4:8,6,4,1 -chr1 917378 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=6%2C5|5%2C4;DP=20;ECNT=2;GERMQ=35;MBQ=34,32;MFRL=0,0;MMQ=60,60;MPOS=34;POPAF=7.3;TLOD=27.09;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:11,9:0.5:20:0,1:5,4:6,6:6,5,5,4 -chr1 917495 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4%2C4|7%2C8;DP=23;ECNT=1;GERMQ=37;MBQ=34,32;MFRL=0,0;MMQ=60,60;MPOS=26;POPAF=7.3;TLOD=45.76;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:8,15:0.6:23:1,1:4,6:5,8:4,4,7,8 -chr1 917495 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5%2C3|9%2C9;DP=26;ECNT=2;GERMQ=40;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=69;POPAF=7.3;TLOD=60.86;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:8,18:0.647:26:0,1:5,9:5,10:5,3,9,9 -chr1 917584 . T G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|8%2C5;DP=13;ECNT=1;GERMQ=78;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=97;POPAF=7.3;TLOD=47.3;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,13:0.909:13:0,1:0,8:0,9:0,0,8,5 -chr1 917584 . T G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|8%2C11;DP=20;ECNT=2;GERMQ=93;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=61;POPAF=7.3;TLOD=66.67;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,19:0.935:19:0,2:0,7:0,13:0,0,8,11 -chr1 917859 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C4|3%2C3;DP=13;ECNT=1;GERMQ=36;MBQ=32,31;MFRL=0,0;MMQ=60,60;MPOS=68;POPAF=7.3;TLOD=15.85;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,6:0.4:13:2,0:3,3:5,3:3,4,3,3 -chr1 917859 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C2|1%2C1;DP=6;ECNT=1;GERMQ=39;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=57;POPAF=7.3;TLOD=6.08;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,2:0.5:6:0,1:2,1:2,2:2,2,1,1 -chr1 918443 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C0|2%2C2;DP=7;ECNT=1;GERMQ=36;MBQ=31,33;MFRL=0,0;MMQ=60,60;MPOS=96;POPAF=7.3;TLOD=13.13;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,4:0.571:6:0,0:2,2:2,3:2,0,2,2 -chr1 918443 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|4%2C4;DP=12;ECNT=1;GERMQ=41;MBQ=34,30;MFRL=0,0;MMQ=60,60;MPOS=59;POPAF=7.3;TLOD=24.25;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,8:0.718:10:0,0:1,4:1,4:1,1,4,4 -chr1 918574 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C2|2%2C3;DP=8;ECNT=1;GERMQ=36;MBQ=35,32;MFRL=0,0;MMQ=60,60;MPOS=20;POPAF=7.3;TLOD=16.2;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,5:0.571:8:1,1:1,2:2,3:1,2,2,3 -chr1 918574 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C2|2%2C2;DP=9;ECNT=1;GERMQ=37;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=78;POPAF=7.3;TLOD=13.33;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:5,4:0.429:9:0,0:3,2:3,2:3,2,2,2 -chr1 918792 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=3%2C4|1%2C1;DP=9;ECNT=3;GERMQ=43;MBQ=34,29;MFRL=0,0;MMQ=60,60;MPOS=90;POPAF=7.3;TLOD=5.18;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,2:0.286:9:1,0:3,1:4,1:3,4,1,1 -chr1 918870 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C2|2%2C2;DP=8;ECNT=2;GERMQ=36;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=80;POPAF=7.3;TLOD=13.53;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:4,4:0.429:8:0,0:2,2:3,2:0|1:918870_A_G:918870:2,2,2,2 -chr1 918870 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=2%2C1|2%2C2;DP=7;ECNT=3;GERMQ=36;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=109;POPAF=7.3;TLOD=13.33;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,4:0.571:7:0,0:2,2:2,3:2,1,2,2 -chr1 918888 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C2|1%2C1;DP=9;ECNT=2;GERMQ=40;MBQ=32,32;MFRL=0,0;MMQ=60,60;MPOS=81;POPAF=7.3;TLOD=5.92;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 1|0:5,2:0.329:7:0,0:3,1:3,1:1|0:918870_A_G:918870:3,2,1,1 -chr1 918934 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=6%2C4|1%2C1;DP=12;ECNT=3;GERMQ=48;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=47;POPAF=7.3;TLOD=5.81;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:10,2:0.222:12:0,0:6,1:6,1:6,4,1,1 -chr1 919297 . A T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C4|1%2C1;DP=9;ECNT=1;GERMQ=43;MBQ=32,31;MFRL=0,0;MMQ=60,60;MPOS=113;POPAF=7.3;TLOD=5.87;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,2:0.286:9:0,0:3,1:4,1:3,4,1,1 -chr1 919397 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|6%2C6;DP=14;ECNT=1;GERMQ=48;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=75;POPAF=7.3;TLOD=43.57;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,12:0.778:14:0,0:1,6:1,6:1,1,6,6 -chr1 919397 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C2|1%2C2;DP=8;ECNT=1;GERMQ=38;MBQ=33,35;MFRL=0,0;MMQ=60,60;MPOS=15;POPAF=7.3;TLOD=9.65;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:5,3:0.429:8:0,1:3,1:3,2:3,2,1,2 -chr1 919598 . A C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5%2C6|4%2C4;DP=19;ECNT=1;GERMQ=36;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=52;POPAF=7.3;TLOD=26.45;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:11,8:0.417:19:1,0:5,4:6,4:5,6,4,4 -chr1 919598 . A C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C3|2%2C2;DP=10;ECNT=1;GERMQ=37;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=89;POPAF=7.3;TLOD=13.33;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,4:0.429:10:0,0:3,2:3,2:3,3,2,2 -chr1 919695 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C3|1%2C2;DP=8;ECNT=1;GERMQ=37;MBQ=35,34;MFRL=0,0;MMQ=60,60;MPOS=84;POPAF=7.3;TLOD=9.51;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,3:0.429:7:1,1:1,1:3,2:1,3,1,2 -chr1 919695 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C0|1%2C2;DP=5;ECNT=2;GERMQ=37;MBQ=30,34;MFRL=0,0;MMQ=60,60;MPOS=115;POPAF=7.3;TLOD=9.75;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,3:0.5:5:0,1:2,1:2,2:2,0,1,2 -chr1 919708 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C2|1%2C1;DP=8;ECNT=2;GERMQ=40;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=140;POPAF=7.3;TLOD=6.15;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:5,2:0.282:7:1,0:3,1:4,1:3,2,1,1 -chr1 920274 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=10%2C9|1%2C1;DP=21;ECNT=1;GERMQ=68;MBQ=32,31;MFRL=0,0;MMQ=60,60;MPOS=70;POPAF=7.3;TLOD=4.89;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:19,2:0.133:21:2,0:10,1:12,1:10,9,1,1 -chr1 920331 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=11%2C8|1%2C1;DP=22;ECNT=1;GERMQ=69;MBQ=35,30;MFRL=0,0;MMQ=60,60;MPOS=59;POPAF=7.3;TLOD=4.75;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:19,2:0.141:21:0,0:11,1:11,1:11,8,1,1 -chr1 920719 . T G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5%2C6|3%2C4;DP=18;ECNT=2;GERMQ=37;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=55;POPAF=7.3;TLOD=28.14;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:11,7:0.417:18:1,1:5,3:6,4:0|1:920719_T_G:920719:5,6,3,4 -chr1 920719 . T G . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=6%2C7|5%2C4;DP=22;ECNT=3;GERMQ=36;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=69;POPAF=7.3;TLOD=36.49;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:13,9:0.429:22:1,0:6,5:7,5:0|1:920719_T_G:920719:6,7,5,4 -chr1 920728 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5%2C6|3%2C4;DP=18;ECNT=2;GERMQ=37;MBQ=32,32;MFRL=0,0;MMQ=60,60;MPOS=61;POPAF=7.3;TLOD=28.14;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:11,7:0.417:18:1,1:5,3:6,4:0|1:920719_T_G:920719:5,6,3,4 -chr1 920728 . A G . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=6%2C7|5%2C4;DP=22;ECNT=3;GERMQ=36;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=75;POPAF=7.3;TLOD=36.49;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:13,9:0.429:22:1,0:6,5:7,5:0|1:920719_T_G:920719:6,7,5,4 -chr1 920791 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=5%2C6|1%2C1;DP=13;ECNT=3;GERMQ=50;MBQ=35,32;MFRL=0,0;MMQ=60,60;MPOS=43;POPAF=7.3;TLOD=5.5;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:11,2:0.2:13:0,0:5,1:7,1:5,6,1,1 -chr1 921096 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C2|2%2C1;DP=7;ECNT=2;GERMQ=37;MBQ=31,31;MFRL=0,0;MMQ=60,60;MPOS=58;POPAF=7.3;TLOD=7.0;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,3:0.5:7:0,0:2,2:2,2:2,2,2,1 -chr1 921096 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C3|3%2C3;DP=12;ECNT=2;GERMQ=35;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=26;POPAF=7.3;TLOD=19.91;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,6:0.556:12:0,0:3,3:3,4:3,3,3,3 -chr1 922226 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C2|1%2C1;DP=7;ECNT=1;GERMQ=40;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=80;POPAF=7.3;TLOD=6.25;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:5,2:0.333:7:0,0:3,1:3,1:3,2,1,1 -chr1 922226 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|2%2C2;DP=7;ECNT=1;GERMQ=37;MBQ=34,34;MFRL=0,0;MMQ=60,60;MPOS=17;POPAF=7.3;TLOD=14.09;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,4:0.604:6:0,0:1,2:1,2:1,1,2,2 -chr1 922348 . T G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C0|5%2C5;DP=11;ECNT=1;GERMQ=53;MBQ=31,34;MFRL=0,0;MMQ=60,60;MPOS=76;POPAF=7.3;TLOD=37.44;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,10:0.778:11:0,1:1,5:1,6:1,0,5,5 -chr1 922348 . T G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C3;DP=6;ECNT=1;GERMQ=55;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=30;POPAF=7.3;TLOD=18.44;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.811:5:0,1:0,2:0,3:0,0,2,3 -chr1 922660 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C1;DP=3;ECNT=2;GERMQ=49;MBQ=0,29;MFRL=0,0;MMQ=60,60;MPOS=57;POPAF=7.3;TLOD=10.15;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,0:0,2:0,2:0,0,2,1 -chr1 922660 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=2;GERMQ=52;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=63;POPAF=7.3;TLOD=14.83;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 922671 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C1;DP=3;ECNT=2;GERMQ=49;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=46;POPAF=7.3;TLOD=10.65;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,0:0,2:0,2:0,0,2,1 -chr1 922671 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=2;GERMQ=52;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=77;POPAF=7.3;TLOD=14.21;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.8:4:0,0:0,2:0,3:0,0,2,2 -chr1 923421 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=41;POPAF=7.3;TLOD=3.48;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 924024 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C3;DP=7;ECNT=1;GERMQ=60;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=90;POPAF=7.3;TLOD=25.34;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,7:0.833:7:0,0:0,4:0,4:0,0,4,3 -chr1 924305 . G A . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=3%2C2|1%2C2;DP=10;ECNT=4;GERMQ=38;MBQ=35,32;MFRL=0,0;MMQ=60,60;MPOS=112;POPAF=7.3;TLOD=11.69;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:5,3:0.427:8:0,1:3,1:3,2:0|1:924305_G_A:924305:3,2,1,2 -chr1 924310 . C G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C5;DP=9;ECNT=4;GERMQ=66;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=60;POPAF=7.3;TLOD=35.98;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,9:0.857:9:0,1:0,4:0,5:0,0,4,5 -chr1 924310 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C1;DP=4;ECNT=2;GERMQ=50;MBQ=0,29;MFRL=0,0;MMQ=60,60;MPOS=13;POPAF=7.3;TLOD=9.75;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,0:0,2:0,2:0,0,2,1 -chr1 924314 . C A . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=3%2C3|1%2C2;DP=12;ECNT=4;GERMQ=39;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=121;POPAF=7.3;TLOD=11.66;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:6,3:0.426:9:0,1:3,1:3,2:0|1:924305_G_A:924305:3,3,1,2 -chr1 924321 . C G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|8%2C7;DP=15;ECNT=4;GERMQ=84;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=12;POPAF=7.3;TLOD=58.21;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,15:0.909:15:0,1:0,7:0,9:0,0,8,7 -chr1 924321 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=6;ECNT=2;GERMQ=52;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=23;POPAF=7.3;TLOD=14.98;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.764:4:0,0:0,2:0,2:0,0,2,2 -chr1 924492 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=9%2C9|1%2C1;DP=20;ECNT=2;GERMQ=66;MBQ=33,35;MFRL=0,0;MMQ=60,60;MPOS=95;POPAF=7.3;TLOD=5.73;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:18,2:0.154:20:0,0:8,1:10,1:9,9,1,1 -chr1 924533 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|11%2C14;DP=25;ECNT=1;GERMQ=93;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=85;POPAF=7.3;TLOD=91.24;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,25:0.937:25:0,2:0,11:0,14:0,0,11,14 -chr1 924533 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|6%2C6;DP=14;ECNT=2;GERMQ=76;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=100;POPAF=7.3;TLOD=44.35;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,12:0.903:12:0,0:0,6:0,8:0,0,6,6 -chr1 924705 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4%2C3|1%2C1;DP=9;ECNT=1;GERMQ=43;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=19;POPAF=7.3;TLOD=6.08;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,2:0.286:9:0,0:4,1:4,1:4,3,1,1 -chr1 925036 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C2;DP=6;ECNT=2;GERMQ=37;MBQ=31,33;MFRL=0,0;MMQ=60,60;MPOS=53;POPAF=7.3;TLOD=10.25;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,3:0.6:5:0,0:1,1:1,2:1,1,1,2 -chr1 925036 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=3;GERMQ=50;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=51;POPAF=7.3;TLOD=10.65;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,1:0,1:0,2:0,0,1,2 -chr1 925081 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=2;GERMQ=49;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=98;POPAF=7.3;TLOD=10.15;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,0:0,1:0,2:0,0,1,2 -chr1 925081 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=3;GERMQ=50;MBQ=0,29;MFRL=0,0;MMQ=60,60;MPOS=96;POPAF=7.3;TLOD=9.95;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,1:0,1:0,2:0,0,1,2 -chr1 925141 . C A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=3;GERMQ=47;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=132;POPAF=7.3;TLOD=6.78;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.75:2:0,0:0,1:0,2:0,0,1,1 -chr1 925455 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C0;DP=3;ECNT=2;GERMQ=39;MBQ=31,34;MFRL=0,0;MMQ=60,60;MPOS=130;POPAF=7.3;TLOD=3.1;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:2,1:0.5:3:0,0:1,1:1,1:0|1:925455_T_C:925455:1,1,1,0 -chr1 925474 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C1;DP=4;ECNT=2;GERMQ=50;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=62;POPAF=7.3;TLOD=11.68;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.75:3:0,0:0,2:0,2:0|1:925455_T_C:925455:0,0,2,1 -chr1 925628 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=1;GERMQ=52;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=100;POPAF=7.3;TLOD=15.23;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 926250 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C0|3%2C3;DP=7;ECNT=1;GERMQ=43;MBQ=28,33;MFRL=0,0;MMQ=60,60;MPOS=53;POPAF=7.3;TLOD=20.96;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,6:0.667:7:0,0:1,3:1,3:1,0,3,3 -chr1 926250 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C1;DP=4;ECNT=1;GERMQ=37;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=62;POPAF=7.3;TLOD=6.78;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.5:4:0,0:1,1:1,1:1,1,1,1 -chr1 926428 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C5;DP=10;ECNT=1;GERMQ=63;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=81;POPAF=7.3;TLOD=29.28;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.864:8:0,0:0,3:0,5:0,0,3,5 -chr1 926428 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=44;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=25;POPAF=7.3;TLOD=3.31;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.684:1:0,0:0,1:0,1:0,0,1,0 -chr1 926713 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C1;DP=3;ECNT=2;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=81;POPAF=7.3;TLOD=10.95;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,0:0,2:0,2:0,0,2,1 -chr1 926713 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C3;DP=5;ECNT=2;GERMQ=55;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=109;POPAF=7.3;TLOD=18.15;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.8:5:0,0:0,2:0,3:0,0,2,3 -chr1 926744 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=4;ECNT=2;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=57;POPAF=7.3;TLOD=7.08;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.684:2:0,0:0,1:0,1:0,0,1,1 -chr1 926744 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=2;GERMQ=50;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=80;POPAF=7.3;TLOD=10.12;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,0:0,1:0,2:0,0,1,2 -chr1 927003 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=2;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=57;POPAF=7.3;TLOD=13.02;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.75:3:0,1:0,1:0,2:0|1:927003_C_T:927003:0,0,1,2 -chr1 927009 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=2;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=63;POPAF=7.3;TLOD=13.02;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.75:3:0,1:0,1:0,2:0|1:927003_C_T:927003:0,0,1,2 -chr1 927376 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5%2C5|1%2C1;DP=12;ECNT=1;GERMQ=48;MBQ=32,34;MFRL=0,0;MMQ=60,60;MPOS=71;POPAF=7.3;TLOD=5.68;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:10,2:0.222:12:0,0:5,1:6,1:5,5,1,1 -chr1 927443 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C4|1%2C1;DP=9;ECNT=2;GERMQ=43;MBQ=35,33;MFRL=0,0;MMQ=60,60;MPOS=57;POPAF=7.3;TLOD=5.98;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,2:0.286:9:0,0:3,1:4,1:3,4,1,1 -chr1 927486 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C4|2%2C2;DP=14;ECNT=2;GERMQ=37;MBQ=32,32;MFRL=0,0;MMQ=60,60;MPOS=70;POPAF=7.3;TLOD=12.43;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,4:0.372:10:0,0:2,2:4,2:2,4,2,2 -chr1 927744 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|6%2C5;DP=11;ECNT=1;GERMQ=72;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=67;POPAF=7.3;TLOD=40.47;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,11:0.875:11:0,0:0,6:0,6:0,0,6,5 -chr1 927744 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=94;POPAF=7.3;TLOD=7.08;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.75:2:0,2:0,0:0,2:0,0,0,2 -chr1 928176 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=2;GERMQ=44;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=132;POPAF=7.3;TLOD=4.2;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,1:0,0:0,1:0|1:928176_G_A:928176:0,0,0,1 -chr1 928176 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=2;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=115;POPAF=7.3;TLOD=4.2;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,1:0,0:0,1:0|1:928176_G_A:928176:0,0,0,1 -chr1 928182 . A C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=2;GERMQ=44;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=138;POPAF=7.3;TLOD=4.2;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,1:0,0:0,1:0|1:928176_G_A:928176:0,0,0,1 -chr1 928182 . A C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=2;GERMQ=44;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=121;POPAF=7.3;TLOD=4.2;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,1:0,0:0,1:0|1:928176_G_A:928176:0,0,0,1 -chr1 928622 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=1;GERMQ=49;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=61;POPAF=7.3;TLOD=10.45;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,1:0,1:0,2:0,0,1,2 -chr1 929346 . T A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=4;ECNT=3;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=107;POPAF=7.3;TLOD=10.73;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.8:3:0,1:0,1:0,3:0,0,1,2 -chr1 929346 . T A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=3;GERMQ=52;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=55;POPAF=7.3;TLOD=14.83;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 929375 . A G . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=3;GERMQ=49;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=39;POPAF=7.3;TLOD=13.02;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.75:3:0,1:0,1:0,2:0|1:929375_A_G:929375:0,0,1,2 -chr1 929375 . A G . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=3;GERMQ=52;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=84;POPAF=7.3;TLOD=17.52;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,4:0.75:4:0,0:0,2:0,2:0|1:929375_A_G:929375:0,0,2,2 -chr1 929377 . G A . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=3;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=41;POPAF=7.3;TLOD=13.02;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.75:3:0,1:0,1:0,2:0|1:929375_A_G:929375:0,0,1,2 -chr1 929377 . G A . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=3;GERMQ=52;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=86;POPAF=7.3;TLOD=17.52;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,4:0.75:4:0,0:0,2:0,2:0|1:929375_A_G:929375:0,0,2,2 -chr1 929558 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C3;DP=6;ECNT=1;GERMQ=58;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=48;POPAF=7.3;TLOD=20.76;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.8:6:0,0:0,3:0,3:0,0,3,3 -chr1 929839 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=38;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=140;POPAF=7.3;TLOD=3.15;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,1:0.5:2:0,0:1,1:1,1:1,0,1,0 -chr1 930939 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=57;POPAF=7.3;TLOD=7.25;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 931513 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=1%2C0|1%2C1;DP=3;ECNT=3;GERMQ=38;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=84;POPAF=7.3;TLOD=6.58;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,2:0.5:3:0,0:1,1:1,1:1,0,1,1 -chr1 931540 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=3;GERMQ=52;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=114;POPAF=7.3;TLOD=14.23;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 931558 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=2%2C1|2%2C1;DP=6;ECNT=3;GERMQ=37;MBQ=32,32;MFRL=0,0;MMQ=60,60;MPOS=99;POPAF=7.3;TLOD=9.35;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,3:0.5:6:0,0:2,2:2,2:2,1,2,1 -chr1 932204 . A T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=2;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=28;POPAF=7.3;TLOD=3.48;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 932204 . A T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=3;ECNT=4;GERMQ=47;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=54;POPAF=7.3;TLOD=7.18;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.684:2:0,0:0,1:0,1:0,0,1,1 -chr1 932227 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=4;GERMQ=47;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=31;POPAF=7.3;TLOD=7.05;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 932255 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|2%2C1;DP=5;ECNT=2;GERMQ=37;MBQ=33,31;MFRL=0,0;MMQ=60,60;MPOS=101;POPAF=7.3;TLOD=9.65;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,3:0.6:5:0,0:1,2:1,2:1,1,2,1 -chr1 932255 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=4;GERMQ=52;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=14;POPAF=7.3;TLOD=14.39;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 932338 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=4;GERMQ=47;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=107;POPAF=7.3;TLOD=7.25;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 932512 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C1|1%2C1;DP=3;ECNT=1;GERMQ=38;MBQ=31,33;MFRL=0,0;MMQ=60,60;MPOS=104;POPAF=7.3;TLOD=6.45;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,2:0.5:3:1,0:0,1:1,1:0,1,1,1 -chr1 932512 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C1;DP=4;ECNT=1;GERMQ=37;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=5;POPAF=7.3;TLOD=6.68;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.5:4:0,0:1,1:1,1:1,1,1,1 -chr1 933411 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=1;GERMQ=50;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=82;POPAF=7.3;TLOD=10.85;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,1:0,1:0,2:0,0,1,2 -chr1 933511 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=2;GERMQ=46;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=73;POPAF=7.3;TLOD=7.55;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 933511 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=97;POPAF=7.3;TLOD=7.55;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 933923 . C T . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=4;GERMQ=47;MBQ=0,30;MFRL=0,0;MMQ=60,60;MPOS=90;POPAF=7.3;TLOD=8.7;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,2:0.667:2:0,0:0,1:0,1:0|1:933923_C_T:933923:0,0,1,1 -chr1 933943 . T C . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=4;GERMQ=47;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=110;POPAF=7.3;TLOD=8.7;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,2:0.667:2:0,0:0,1:0,1:0|1:933923_C_T:933923:0,0,1,1 -chr1 933989 . G T . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=4;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=134;POPAF=7.3;TLOD=8.7;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,0:0,0:0,1:0|1:933923_C_T:933923:0,0,0,1 -chr1 933993 . G C . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=4;GERMQ=44;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=138;POPAF=7.3;TLOD=8.7;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,0:0,0:0,1:0|1:933923_C_T:933923:0,0,0,1 -chr1 935062 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=30;POPAF=7.3;TLOD=7.35;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 936972 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=1;GERMQ=52;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=98;POPAF=7.3;TLOD=14.73;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 938222 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=3;POPAF=7.3;TLOD=7.05;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 938650 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=147;POPAF=7.3;TLOD=3.28;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 939038 . A C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=19;POPAF=7.3;TLOD=7.15;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 939038 . A C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C4;DP=6;ECNT=1;GERMQ=58;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=70;POPAF=7.3;TLOD=21.58;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.857:6:0,3:0,2:0,5:0,0,2,4 -chr1 939864 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C2|1%2C1;DP=6;ECNT=1;GERMQ=39;MBQ=35,31;MFRL=0,0;MMQ=60,60;MPOS=49;POPAF=7.3;TLOD=5.97;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,2:0.4:6:0,0:2,1:2,1:2,2,1,1 -chr1 940263 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=44;POPAF=7.3;TLOD=7.25;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 941119 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=21;POPAF=7.3;TLOD=7.31;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 941387 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C1;DP=4;ECNT=1;GERMQ=37;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=41;POPAF=7.3;TLOD=6.78;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.5:4:0,0:1,1:1,1:1,1,1,1 -chr1 941767 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4%2C4|2%2C2;DP=12;ECNT=1;GERMQ=39;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=77;POPAF=7.3;TLOD=12.66;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:8,4:0.375:12:0,0:4,2:4,2:4,4,2,2 -chr1 941767 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=78;POPAF=7.3;TLOD=7.25;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 942335 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=43;POPAF=7.3;TLOD=7.15;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 942335 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=24;POPAF=7.3;TLOD=7.25;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 942451 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C1;DP=5;ECNT=1;GERMQ=55;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=45;POPAF=7.3;TLOD=18.09;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.833:5:0,0:0,4:0,4:0,0,4,1 -chr1 942451 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=3;ECNT=1;GERMQ=47;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=115;POPAF=7.3;TLOD=6.83;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.764:2:0,2:0,0:0,2:0,0,0,2 -chr1 943946 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=25%2C21|1%2C1;DP=48;ECNT=1;GERMQ=93;MBQ=34,32;MFRL=0,0;MMQ=60,60;MPOS=117;POPAF=7.3;TLOD=4.44;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:46,2:0.067:48:2,0:25,1:27,1:25,21,1,1 -chr1 944296 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|55%2C48;DP=106;ECNT=3;GERMQ=93;MBQ=29,32;MFRL=0,0;MMQ=60,60;MPOS=89;POPAF=7.3;TLOD=367.81;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,103:0.984:105:0,0:0,55:0,60:1,1,55,48 -chr1 944296 . G A . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|51%2C45;DP=98;ECNT=4;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=99;POPAF=7.3;TLOD=428.91;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,96:0.982:96:0,0:0,50:0,53:0|1:944296_G_A:944296:0,0,51,45 -chr1 944307 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|55%2C51;DP=107;ECNT=3;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=85;POPAF=7.3;TLOD=398.76;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,106:0.984:106:0,0:0,55:0,62:0,0,55,51 -chr1 944307 . T C . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|51%2C45;DP=99;ECNT=4;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=95;POPAF=7.3;TLOD=428.92;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,96:0.982:96:0,0:0,50:0,53:0|1:944296_G_A:944296:0,0,51,45 -chr1 944559 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=35%2C37|1%2C1;DP=74;ECNT=1;GERMQ=93;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=99;POPAF=7.3;TLOD=4.12;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:72,2:0.042:74:8,0:35,1:45,1:35,37,1,1 -chr1 944573 . T A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=34%2C39|1%2C1;DP=82;ECNT=1;GERMQ=93;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=112;POPAF=7.3;TLOD=4.03;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:73,2:0.043:75:9,0:34,1:43,1:34,39,1,1 -chr1 944722 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=26%2C29|1%2C1;DP=59;ECNT=1;GERMQ=93;MBQ=33,34;MFRL=0,0;MMQ=59,60;MPOS=22;POPAF=7.3;TLOD=4.74;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:55,2:0.06:57:3,0:26,1:30,1:26,29,1,1 -chr1 944858 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=1;GERMQ=52;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=67;POPAF=7.3;TLOD=14.83;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 945827 . A T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5%2C3|1%2C1;DP=10;ECNT=1;GERMQ=45;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=45;POPAF=7.3;TLOD=5.83;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:8,2:0.25:10:0,0:5,1:5,1:5,3,1,1 -chr1 946247 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C2|1%2C1;DP=6;ECNT=1;GERMQ=39;MBQ=34,33;MFRL=0,0;MMQ=60,39;MPOS=45;POPAF=7.3;TLOD=6.15;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,2:0.333:6:1,0:2,1:3,1:2,2,1,1 -chr1 946538 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C2|1%2C1;DP=6;ECNT=1;GERMQ=39;MBQ=33,34;MFRL=0,0;MMQ=60,31;MPOS=10;POPAF=7.3;TLOD=4.87;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,2:0.5:6:0,1:2,1:2,2:2,2,1,1 -chr1 946538 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C2|1%2C2;DP=5;ECNT=1;GERMQ=37;MBQ=33,33;MFRL=0,0;MMQ=31,60;MPOS=103;POPAF=7.3;TLOD=8.25;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,3:0.5:5:2,1:0,1:2,2:0,2,1,2 -chr1 947371 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C1|1%2C1;DP=6;ECNT=2;GERMQ=39;MBQ=32,34;MFRL=0,0;MMQ=60,60;MPOS=37;POPAF=7.3;TLOD=6.35;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,2:0.333:6:0,0:3,1:3,1:3,1,1,1 -chr1 947423 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|5%2C3;DP=9;ECNT=2;GERMQ=63;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=97;POPAF=7.3;TLOD=29.94;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.857:8:0,0:0,5:0,5:0,0,5,3 -chr1 947423 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=2;GERMQ=52;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=87;POPAF=7.3;TLOD=15.03;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 947437 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C1;DP=4;ECNT=2;GERMQ=37;MBQ=24,32;MFRL=0,0;MMQ=60,60;MPOS=109;POPAF=7.3;TLOD=6.3;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.414:4:0,0:0,1:2,1:1,1,1,1 -chr1 948245 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=59;POPAF=7.3;TLOD=3.48;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 948245 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=108;POPAF=7.3;TLOD=3.58;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,0:0,1:0,0,0,1 -chr1 948711 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C2;DP=5;ECNT=1;GERMQ=55;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=109;POPAF=7.3;TLOD=18.88;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.8:5:0,0:0,3:0,3:0,0,3,2 -chr1 948711 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=89;POPAF=7.3;TLOD=7.12;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 949435 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=1;GERMQ=52;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=46;POPAF=7.3;TLOD=14.43;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 949435 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=68;POPAF=7.3;TLOD=7.15;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 949628 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C2|1%2C1;DP=6;ECNT=1;GERMQ=39;MBQ=33,31;MFRL=0,0;MMQ=60,60;MPOS=78;POPAF=7.3;TLOD=5.97;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,2:0.4:6:0,0:2,1:2,1:2,2,1,1 -chr1 950319 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=128;POPAF=7.3;TLOD=7.25;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 951408 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=2;GERMQ=44;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=97;POPAF=7.3;TLOD=3.28;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 951437 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=2;GERMQ=47;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=95;POPAF=7.3;TLOD=7.08;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.75:2:0,0:0,2:0,2:0,0,2,0 -chr1 951610 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=44;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=9;POPAF=7.3;TLOD=3.21;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.684:1:0,1:0,0:0,1:0,0,0,1 -chr1 952421 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=8;ECNT=1;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,42;MPOS=142;POPAF=7.3;TLOD=10.9;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.787:3:0,1:0,1:0,2:0,0,1,2 -chr1 952421 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|5%2C1;DP=16;ECNT=2;GERMQ=58;MBQ=0,34;MFRL=0,0;MMQ=60,34;MPOS=134;POPAF=7.3;TLOD=20.78;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.897:6:0,1:0,5:0,6:0,0,5,1 -chr1 952450 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=18%2C15|1%2C1;DP=35;ECNT=2;GERMQ=93;MBQ=32,34;MFRL=0,0;MMQ=51,60;MPOS=122;POPAF=7.3;TLOD=5.13;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:33,2:0.091:35:1,0:17,1:19,1:18,15,1,1 -chr1 952567 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=13%2C15|1%2C1;DP=31;ECNT=1;GERMQ=91;MBQ=32,30;MFRL=0,0;MMQ=48,53;MPOS=12;POPAF=7.3;TLOD=4.46;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:28,2:0.104:30:3,0:13,1:16,1:13,15,1,1 -chr1 953259 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C4;DP=6;ECNT=2;GERMQ=58;MBQ=0,33;MFRL=0,0;MMQ=60,54;MPOS=114;POPAF=7.3;TLOD=17.66;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.855:6:0,2:0,2:0,5:0,0,2,4 -chr1 953259 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=2;GERMQ=44;MBQ=0,34;MFRL=0,0;MMQ=60,32;MPOS=137;POPAF=7.3;TLOD=3.38;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 953279 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C4;DP=5;ECNT=2;GERMQ=55;MBQ=0,34;MFRL=0,0;MMQ=60,48;MPOS=108;POPAF=7.3;TLOD=17.3;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.857:5:0,3:0,1:0,5:0,0,1,4 -chr1 953279 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=2;GERMQ=44;MBQ=0,34;MFRL=0,0;MMQ=60,32;MPOS=117;POPAF=7.3;TLOD=3.38;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 954258 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|5%2C6;DP=12;ECNT=2;GERMQ=72;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=40;POPAF=7.3;TLOD=40.72;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,11:0.893:11:0,1:0,5:0,7:0,0,5,6 -chr1 954258 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|8%2C8;DP=16;ECNT=2;GERMQ=88;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=57;POPAF=7.3;TLOD=61.48;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,16:0.9:16:0,0:0,8:0,8:0,0,8,8 -chr1 954333 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|9%2C7;DP=17;ECNT=2;GERMQ=87;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=88;POPAF=7.3;TLOD=56.99;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,16:0.917:16:0,0:0,9:0,10:0,0,9,7 -chr1 954333 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C5;DP=10;ECNT=2;GERMQ=67;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=44;POPAF=7.3;TLOD=32.99;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,9:0.864:9:0,0:0,4:0,5:0,0,4,5 -chr1 954574 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=1;GERMQ=52;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=94;POPAF=7.3;TLOD=15.23;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 954724 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|6%2C7;DP=15;ECNT=1;GERMQ=52;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=114;POPAF=7.3;TLOD=45.61;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,13:0.8:15:0,0:1,6:1,7:1,1,6,7 -chr1 955384 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=6%2C7|1%2C1;DP=17;ECNT=1;GERMQ=55;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=73;POPAF=7.3;TLOD=5.6;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:13,2:0.182:15:0,0:6,1:8,1:6,7,1,1 -chr1 955641 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C4;DP=9;ECNT=2;GERMQ=63;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=36;POPAF=7.3;TLOD=25.25;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.841:8:0,0:0,4:0,4:0,0,4,4 -chr1 955641 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C3;DP=7;ECNT=2;GERMQ=61;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=54;POPAF=7.3;TLOD=26.06;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,7:0.857:7:0,0:0,4:0,5:0,0,4,3 -chr1 955679 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|2%2C1;DP=5;ECNT=2;GERMQ=37;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=28;POPAF=7.3;TLOD=9.92;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,3:0.6:5:0,0:1,2:1,2:1,1,2,1 -chr1 955679 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C0|2%2C2;DP=5;ECNT=2;GERMQ=40;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=57;POPAF=7.3;TLOD=13.63;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,4:0.6:5:0,0:1,2:1,2:1,0,2,2 -chr1 956565 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C2|2%2C2;DP=6;ECNT=1;GERMQ=36;MBQ=31,33;MFRL=0,0;MMQ=60,60;MPOS=38;POPAF=7.3;TLOD=13.13;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,4:0.572:6:1,1:0,2:2,3:0,2,2,2 -chr1 956565 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C4|2%2C5;DP=13;ECNT=1;GERMQ=35;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=57;POPAF=7.3;TLOD=23.44;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,7:0.545:13:2,1:2,2:4,5:2,4,2,5 -chr1 957133 . T A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=11%2C11|1%2C1;DP=27;ECNT=1;GERMQ=76;MBQ=33,31;MFRL=0,0;MMQ=42,60;MPOS=138;POPAF=7.3;TLOD=4.37;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:22,2:0.086:24:8,0:11,1:20,1:11,11,1,1 -chr1 957365 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|6%2C6;DP=12;ECNT=1;GERMQ=75;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=82;POPAF=7.3;TLOD=42.72;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,12:0.889:12:0,1:0,6:0,7:0,0,6,6 -chr1 957365 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C1;DP=4;ECNT=1;GERMQ=50;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=55;POPAF=7.3;TLOD=10.85;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,0:0,2:0,2:0,0,2,1 -chr1 957900 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|5%2C6;DP=13;ECNT=1;GERMQ=72;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=64;POPAF=7.3;TLOD=39.58;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,11:0.88:11:0,0:0,5:0,6:0,0,5,6 -chr1 957900 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|5%2C4;DP=12;ECNT=1;GERMQ=67;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=78;POPAF=7.3;TLOD=32.39;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,9:0.864:9:0,0:0,5:0,5:0,0,5,4 -chr1 958962 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=8%2C19|1%2C1;DP=29;ECNT=1;GERMQ=88;MBQ=34,34;MFRL=0,0;MMQ=60,60;MPOS=132;POPAF=7.3;TLOD=5.05;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:27,2:0.083:29:12,0:8,1:21,1:8,19,1,1 -chr1 959193 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=1;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=14;POPAF=7.3;TLOD=10.63;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,0:0,1:0,2:0,0,1,2 -chr1 959193 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=1;GERMQ=50;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=21;POPAF=7.3;TLOD=10.75;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,0:0,1:0,2:0,0,1,2 -chr1 959982 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C1|1%2C1;DP=3;ECNT=1;GERMQ=38;MBQ=33,20;MFRL=0,0;MMQ=60,60;MPOS=100;POPAF=7.3;TLOD=3.55;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,2:0.5:3:1,0:0,0:1,1:0,1,1,1 -chr1 960681 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5%2C6|1%2C1;DP=15;ECNT=1;GERMQ=50;MBQ=34,34;MFRL=0,0;MMQ=60,60;MPOS=118;POPAF=7.3;TLOD=5.88;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:11,2:0.219:13:1,0:5,1:6,1:5,6,1,1 -chr1 960891 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=1;GERMQ=49;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=98;POPAF=7.3;TLOD=10.55;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,1:0,1:0,2:0,0,1,2 -chr1 960891 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=62;POPAF=7.3;TLOD=7.25;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 961096 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C4;DP=8;ECNT=1;GERMQ=60;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=87;POPAF=7.3;TLOD=24.13;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,7:0.864:7:0,1:0,3:0,5:0,0,3,4 -chr1 961096 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=5;ECNT=1;GERMQ=52;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=67;POPAF=7.3;TLOD=14.58;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.764:4:0,0:0,2:0,2:0,0,2,2 -chr1 961945 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|11%2C14;DP=26;ECNT=2;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=81;POPAF=7.3;TLOD=95.02;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,25:0.941:25:0,3:0,11:0,15:0,0,11,14 -chr1 961945 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|6%2C5;DP=11;ECNT=1;GERMQ=73;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=59;POPAF=7.3;TLOD=40.5;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,11:0.875:11:0,0:0,6:0,6:0,0,6,5 -chr1 962001 . T A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5%2C7|1%2C1;DP=14;ECNT=2;GERMQ=53;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=134;POPAF=7.3;TLOD=5.5;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:12,2:0.2:14:0,0:5,1:7,1:5,7,1,1 -chr1 962184 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|5%2C3;DP=10;ECNT=1;GERMQ=63;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=27;POPAF=7.3;TLOD=29.35;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.864:8:0,0:0,5:0,5:0,0,5,3 -chr1 962184 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C2;DP=6;ECNT=1;GERMQ=58;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=7;POPAF=7.3;TLOD=21.59;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.833:6:0,0:0,4:0,4:0,0,4,2 -chr1 962943 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=81;POPAF=7.3;TLOD=7.35;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 963171 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=6%2C7|1%2C1;DP=17;ECNT=2;GERMQ=55;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=72;POPAF=7.3;TLOD=5.37;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:13,2:0.197:15:1,0:6,1:7,1:6,7,1,1 -chr1 963247 . T G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C3|1%2C1;DP=7;ECNT=2;GERMQ=39;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=119;POPAF=7.3;TLOD=6.37;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,2:0.4:6:0,0:1,1:2,1:1,3,1,1 -chr1 964218 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C1|1%2C1;DP=5;ECNT=1;GERMQ=38;MBQ=35,30;MFRL=0,0;MMQ=60,60;MPOS=90;POPAF=7.3;TLOD=5.45;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,2:0.4:5:0,0:2,1:2,1:2,1,1,1 -chr1 965125 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=7%2C6|9%2C8;DP=30;ECNT=1;GERMQ=34;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=72;POPAF=7.3;TLOD=58.41;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:13,17:0.6:30:0,2:7,9:7,11:7,6,9,8 -chr1 965125 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=6%2C7|4%2C4;DP=22;ECNT=1;GERMQ=38;MBQ=35,33;MFRL=0,0;MMQ=60,60;MPOS=59;POPAF=7.3;TLOD=26.09;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:13,8:0.428:21:1,0:5,4:7,5:6,7,4,4 -chr1 965350 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|11%2C11;DP=23;ECNT=2;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=72;POPAF=7.3;TLOD=92.19;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,22:0.937:22:0,0:0,11:0,14:0|1:965337_CTTAT_C:965337:0,0,11,11 -chr1 965350 . G A . haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|6%2C10;DP=20;ECNT=2;GERMQ=88;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=58;POPAF=7.3;TLOD=59.25;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,16:0.922:16:0,1:0,6:0,10:0|1:965337_CTTAT_C:965337:0,0,6,10 -chr1 965592 . T G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|10%2C11;DP=24;ECNT=4;GERMQ=93;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=22;POPAF=7.3;TLOD=80.81;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,21:0.927:21:0,1:0,10:0,11:0,0,10,11 -chr1 965592 . T G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|12%2C14;DP=26;ECNT=3;GERMQ=93;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=39;POPAF=7.3;TLOD=96.95;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,26:0.937:26:0,1:0,12:0,14:0,0,12,14 -chr1 965615 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=10%2C11|1%2C1;DP=23;ECNT=4;GERMQ=74;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=119;POPAF=7.3;TLOD=5.36;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:21,2:0.143:23:1,0:10,1:11,1:10,11,1,1 -chr1 965643 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|10%2C11;DP=21;ECNT=4;GERMQ=93;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=72;POPAF=7.3;TLOD=78.84;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,21:0.923:21:0,1:0,10:0,11:0,0,10,11 -chr1 965643 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|11%2C13;DP=26;ECNT=3;GERMQ=93;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=64;POPAF=7.3;TLOD=89.59;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,24:0.935:24:0,0:0,11:0,13:0,0,11,13 -chr1 966179 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=4;ECNT=3;GERMQ=46;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=17;POPAF=7.3;TLOD=3.21;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.684:2:0,0:0,1:0,1:0,0,1,1 -chr1 966179 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C4;DP=7;ECNT=3;GERMQ=61;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=73;POPAF=7.3;TLOD=25.26;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,7:0.857:7:0,2:0,3:0,5:0,0,3,4 -chr1 966227 . C G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=3;GERMQ=52;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=69;POPAF=7.3;TLOD=14.43;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 966227 . C G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C4;DP=7;ECNT=3;GERMQ=61;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=66;POPAF=7.3;TLOD=25.84;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,7:0.833:7:0,1:0,3:0,4:0,0,3,4 -chr1 966272 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=3;GERMQ=52;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=24;POPAF=7.3;TLOD=14.83;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 966272 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C3;DP=5;ECNT=3;GERMQ=55;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=74;POPAF=7.3;TLOD=18.78;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.8:5:0,1:0,2:0,3:0,0,2,3 -chr1 966665 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=2;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=113;POPAF=7.3;TLOD=7.45;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 966770 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C1;DP=4;ECNT=2;GERMQ=37;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=124;POPAF=7.3;TLOD=6.66;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.5:4:0,0:1,1:1,1:1,1,1,1 -chr1 967384 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C1;DP=4;ECNT=2;GERMQ=52;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=53;POPAF=7.3;TLOD=17.4;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,4:0.8:4:0,0:0,3:0,3:0|1:967376_AC_A:967376:0,0,3,1 -chr1 967617 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=74;POPAF=7.3;TLOD=7.15;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 967865 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C0|1%2C1;DP=3;ECNT=2;GERMQ=38;MBQ=34,34;MFRL=0,0;MMQ=60,60;MPOS=56;POPAF=7.3;TLOD=6.98;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,2:0.5:3:0,0:1,1:1,1:1,0,1,1 -chr1 967941 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=2;GERMQ=52;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=120;POPAF=7.3;TLOD=14.2;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 968841 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C1;DP=4;ECNT=1;GERMQ=37;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=113;POPAF=7.3;TLOD=6.68;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.5:4:0,0:1,1:1,1:1,1,1,1 -chr1 969648 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=103;POPAF=7.3;TLOD=7.35;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 970005 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C0|1%2C1;DP=4;ECNT=1;GERMQ=37;MBQ=34,29;MFRL=0,0;MMQ=41,60;MPOS=43;POPAF=7.3;TLOD=5.57;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.4:4:0,0:2,1:2,1:2,0,1,1 -chr1 970874 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C1|1%2C1;DP=3;ECNT=1;GERMQ=38;MBQ=32,29;MFRL=0,0;MMQ=60,60;MPOS=90;POPAF=7.3;TLOD=5.97;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,2:0.5:3:1,0:0,1:1,1:0,1,1,1 -chr1 971513 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C0|1%2C1;DP=3;ECNT=1;GERMQ=38;MBQ=32,30;MFRL=0,0;MMQ=60,60;MPOS=3;POPAF=7.3;TLOD=6.18;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,2:0.5:3:0,0:1,1:1,1:1,0,1,1 -chr1 973443 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C4;DP=6;ECNT=1;GERMQ=58;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=100;POPAF=7.3;TLOD=18.74;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.833:6:0,2:0,1:0,4:0,0,2,4 -chr1 973841 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=52;POPAF=7.3;TLOD=3.58;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 973929 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C1;DP=4;ECNT=1;GERMQ=37;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=115;POPAF=7.3;TLOD=6.98;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.5:4:0,0:1,1:1,1:1,1,1,1 -chr1 974388 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=110;POPAF=7.3;TLOD=7.05;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 975139 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=67;POPAF=7.3;TLOD=3.25;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 975447 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=4%2C2|1%2C2;DP=9;ECNT=3;GERMQ=39;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=136;POPAF=7.3;TLOD=6.28;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,3:0.286:9:0,0:4,1:4,1:4,2,1,2 -chr1 975523 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=3%2C3|3%2C2;DP=11;ECNT=3;GERMQ=36;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=18;POPAF=7.3;TLOD=16.54;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,5:0.5:11:0,0:3,3:3,3:3,3,3,2 -chr1 976215 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5%2C7|3%2C3;DP=20;ECNT=1;GERMQ=40;MBQ=32,34;MFRL=0,0;MMQ=60,60;MPOS=65;POPAF=7.3;TLOD=19.72;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:12,6:0.332:18:1,0:5,3:7,3:5,7,3,3 -chr1 976215 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=9%2C8|2%2C3;DP=22;ECNT=1;GERMQ=50;MBQ=33,35;MFRL=0,0;MMQ=60,60;MPOS=69;POPAF=7.3;TLOD=15.83;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:17,5:0.286:22:0,0:9,2:9,3:9,8,2,3 -chr1 976485 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=27;POPAF=7.3;TLOD=7.25;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 995371 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=48;POPAF=7.3;TLOD=7.45;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 997238 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=94;POPAF=7.3;TLOD=6.98;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.75:2:0,0:0,2:0,2:0,0,2,0 -chr1 997987 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,28;MFRL=0,0;MMQ=60,60;MPOS=94;POPAF=7.3;TLOD=6.25;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 998410 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=138;POPAF=7.3;TLOD=3.48;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 998981 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=35%2C17|1%2C1;DP=54;ECNT=3;GERMQ=93;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=131;POPAF=7.3;TLOD=4.51;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:52,2:0.052:54:2,0:28,1:36,1:35,17,1,1 -chr1 998982 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=39%2C19|1%2C1;DP=71;ECNT=3;GERMQ=93;MBQ=33,31;MFRL=0,0;MMQ=60,60;MPOS=125;POPAF=7.3;TLOD=3.89;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:58,2:0.045:60:2,0:31,1:40,1:39,19,1,1 -chr1 999005 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=33%2C28|28%2C18;DP=108;ECNT=2;GERMQ=36;MBQ=34,32;MFRL=0,0;MMQ=60,60;MPOS=124;POPAF=7.3;TLOD=151.05;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:61,46:0.46:107:0,0:33,28:33,28:33,28,28,18 -chr1 999005 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=35%2C24|36%2C23;DP=119;ECNT=3;GERMQ=31;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=108;POPAF=7.3;TLOD=201.72;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:59,59:0.514:118:0,3:34,34:35,37:35,24,36,23 -chr1 999409 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=27%2C40|1%2C1;DP=69;ECNT=1;GERMQ=93;MBQ=32,34;MFRL=0,0;MMQ=60,60;MPOS=5;POPAF=7.3;TLOD=4.28;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:67,2:0.04:69:18,0:27,1:47,1:27,40,1,1 -chr1 999577 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=25%2C28|1%2C1;DP=55;ECNT=1;GERMQ=93;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=84;POPAF=7.3;TLOD=4.24;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:53,2:0.048:55:13,0:25,1:39,1:25,28,1,1 -chr1 999842 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4%2C5|18%2C20;DP=52;ECNT=1;GERMQ=69;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=39;POPAF=7.3;TLOD=126.5;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:9,38:0.818:47:0,2:3,17:5,24:4,5,18,20 -chr1 999842 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=6%2C5|29%2C33;DP=78;ECNT=1;GERMQ=93;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=44;POPAF=7.3;TLOD=213.25;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:11,62:0.834:73:0,5:6,29:6,34:6,5,29,33 -chr1 1000079 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|40%2C48;DP=90;ECNT=4;GERMQ=93;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=19;POPAF=7.3;TLOD=338.09;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,88:0.981:88:0,8:0,40:0,49:0,0,40,48 -chr1 1000079 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|22%2C33;DP=58;ECNT=2;GERMQ=93;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=23;POPAF=7.3;TLOD=204.87;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,55:0.972:55:0,8:0,21:0,33:0,0,22,33 -chr1 1000112 . G T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|9%2C10;DP=29;ECNT=4;GERMQ=93;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=42;POPAF=7.3;TLOD=64.39;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,19:0.929:19:0,0:0,8:0,10:0,0,9,10 -chr1 1000112 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|6%2C8;DP=19;ECNT=2;GERMQ=82;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=21;POPAF=7.3;TLOD=49.21;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,14:0.92:14:0,1:0,6:0,9:0,0,6,8 -chr1 1000134 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=8%2C8|1%2C1;DP=18;ECNT=4;GERMQ=62;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=112;POPAF=7.3;TLOD=5.51;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:16,2:0.167:18:0,0:8,1:9,1:8,8,1,1 -chr1 1000207 . C G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=14%2C11|1%2C1;DP=29;ECNT=4;GERMQ=83;MBQ=33,29;MFRL=0,0;MMQ=60,60;MPOS=73;POPAF=7.3;TLOD=4.36;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:25,2:0.116:27:0,0:14,1:14,1:14,11,1,1 -chr1 1000335 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=7%2C7|8%2C6;DP=29;ECNT=1;GERMQ=34;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=31;POPAF=7.3;TLOD=45.17;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:14,14:0.5:28:2,1:7,8:9,9:7,7,8,6 -chr1 1000335 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=6%2C5|8%2C11;DP=30;ECNT=2;GERMQ=37;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=60;POPAF=7.3;TLOD=64.0;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:11,19:0.6:30:1,3:6,7:7,11:0|1:1000335_C_T:1000335:6,5,8,11 -chr1 1000346 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=13%2C14|1%2C1;DP=31;ECNT=2;GERMQ=88;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=9;POPAF=7.3;TLOD=4.91;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:27,2:0.099:29:3,0:13,1:17,1:0|1:1000335_C_T:1000335:13,14,1,1 -chr1 1000453 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|19%2C14;DP=37;ECNT=1;GERMQ=93;MBQ=22,32;MFRL=0,0;MMQ=60,60;MPOS=72;POPAF=7.3;TLOD=117.94;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,33:0.918:35:0,2:1,19:1,21:1,1,19,14 -chr1 1000453 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|19%2C19;DP=39;ECNT=2;GERMQ=93;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=70;POPAF=7.3;TLOD=141.22;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,38:0.96:38:0,4:0,19:0,23:0|1:1000453_C_G:1000453:0,0,19,19 -chr1 1000469 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=19%2C20|1%2C1;DP=43;ECNT=2;GERMQ=93;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=55;POPAF=7.3;TLOD=4.73;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:39,2:0.073:41:3,0:19,1:24,1:0|1:1000453_C_G:1000453:19,20,1,1 -chr1 1000731 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=10%2C14|13%2C14;DP=51;ECNT=3;GERMQ=32;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=86;POPAF=7.3;TLOD=86.76;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:24,27:0.5:51:4,1:10,12:14,14:10,14,13,14 -chr1 1000731 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=5%2C5|8%2C12;DP=30;ECNT=3;GERMQ=39;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=71;POPAF=7.3;TLOD=67.27;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:10,20:0.65:30:0,3:5,8:6,12:5,5,8,12 -chr1 1000814 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|14%2C20;DP=34;ECNT=3;GERMQ=93;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=11;POPAF=7.3;TLOD=127.94;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,34:0.957:34:0,1:0,14:0,21:0,0,14,20 -chr1 1000814 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|9%2C10;DP=20;ECNT=3;GERMQ=93;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=42;POPAF=7.3;TLOD=70.74;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,19:0.925:19:0,0:0,9:0,11:0,0,9,10 -chr1 1000830 . C A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|7%2C9;DP=18;ECNT=3;GERMQ=87;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=25;POPAF=7.3;TLOD=57.77;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,16:0.919:16:0,0:0,7:0,10:0,0,7,9 -chr1 1000830 . C A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|5%2C7;DP=14;ECNT=3;GERMQ=76;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=68;POPAF=7.3;TLOD=44.07;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,12:0.9:12:0,0:0,5:0,8:0,0,5,7 -chr1 1001107 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=61;POPAF=7.3;TLOD=7.35;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1001107 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=3;ECNT=1;GERMQ=47;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=4;POPAF=7.3;TLOD=7.08;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.684:2:0,0:0,1:0,1:0,0,1,1 -chr1 1002308 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=20;POPAF=7.3;TLOD=7.65;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1004625 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=89;POPAF=7.3;TLOD=7.55;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1008088 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=39;POPAF=7.3;TLOD=7.15;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1009083 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C1;DP=4;ECNT=1;GERMQ=37;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=30;POPAF=7.3;TLOD=6.65;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.5:4:0,0:1,1:1,1:1,1,1,1 -chr1 1009168 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C1;DP=4;ECNT=2;GERMQ=37;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=100;POPAF=7.3;TLOD=6.98;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.5:4:0,0:1,1:1,1:1,1,1,1 -chr1 1009184 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=2;GERMQ=47;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=84;POPAF=7.3;TLOD=7.35;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1011654 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C1;DP=3;ECNT=1;GERMQ=50;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=51;POPAF=7.3;TLOD=10.45;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,0:0,2:0,2:0,0,2,1 -chr1 1012158 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C3;DP=5;ECNT=1;GERMQ=55;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=53;POPAF=7.3;TLOD=17.15;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.8:5:0,1:0,2:0,3:0,0,2,3 -chr1 1013312 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C1;DP=4;ECNT=1;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=59;POPAF=7.3;TLOD=10.65;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,0:0,2:0,2:0,0,2,1 -chr1 1013312 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=56;POPAF=7.3;TLOD=7.25;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1013490 . C G . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C1;DP=4;ECNT=3;GERMQ=52;MBQ=0,30;MFRL=0,0;MMQ=60,60;MPOS=77;POPAF=7.3;TLOD=17.4;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,4:0.8:4:0,0:0,3:0,3:0|1:1013466_T_TA:1013466:0,0,3,1 -chr1 1013490 . C G . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=3;ECNT=5;GERMQ=47;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=120;POPAF=7.3;TLOD=8.0;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,2:0.683:2:0,0:0,1:0,1:0|1:1013466_T_TA:1013466:0,0,1,1 -chr1 1013541 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|46%2C3;DP=52;ECNT=3;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=28;POPAF=7.3;TLOD=179.34;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,49:0.98:49:0,0:0,46:0,47:0,0,46,3 -chr1 1013541 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|47%2C2;DP=51;ECNT=5;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=29;POPAF=7.3;TLOD=180.17;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,49:0.98:49:0,0:0,47:0,47:0,0,47,2 -chr1 1013568 . A C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=54%2C1|1%2C1;DP=57;ECNT=5;GERMQ=93;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=51;POPAF=7.3;TLOD=4.27;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:55,2:0.035:57:0,0:54,1:54,1:54,1,1,1 -chr1 1013617 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=5%2C4|1%2C1;DP=11;ECNT=5;GERMQ=47;MBQ=35,34;MFRL=0,0;MMQ=60,60;MPOS=63;POPAF=7.3;TLOD=5.91;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:9,2:0.222:11:0,0:5,1:6,1:5,4,1,1 -chr1 1013855 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C6;DP=12;ECNT=1;GERMQ=69;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=77;POPAF=7.3;TLOD=35.6;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,10:0.88:10:0,1:0,4:0,6:0,0,4,6 -chr1 1013855 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=5;POPAF=7.3;TLOD=3.48;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 1014228 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=122%2C149|32%2C42;DP=366;ECNT=2;GERMQ=93;MBQ=34,32;MFRL=0,0;MMQ=60,60;MPOS=72;POPAF=7.3;TLOD=216.65;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:271,74:0.243:345:30,16:122,32:161,51:122,149,32,42 -chr1 1014228 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=115%2C134|45%2C53;DP=353;ECNT=2;GERMQ=93;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=70;POPAF=7.3;TLOD=306.97;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:249,98:0.279:347:26,11:114,44:149,57:115,134,45,53 -chr1 1014274 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|145%2C150;DP=303;ECNT=2;GERMQ=93;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=94;POPAF=7.3;TLOD=1139.03;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,295:0.995:295:0,11:0,143:0,180:0,0,145,150 -chr1 1014274 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|148%2C154;DP=308;ECNT=2;GERMQ=93;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=91;POPAF=7.3;TLOD=1164.53;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,302:0.995:302:0,10:0,145:0,180:0,0,148,154 -chr1 1014545 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C1;DP=4;ECNT=1;GERMQ=52;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=111;POPAF=7.3;TLOD=13.91;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.8:4:0,0:0,3:0,3:0,0,3,1 -chr1 1014545 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=118;POPAF=7.3;TLOD=3.48;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 1016858 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C1;DP=4;ECNT=2;GERMQ=37;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=20;POPAF=7.3;TLOD=8.22;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:2,2:0.5:4:0,0:1,1:1,1:0|1:1016858_A_G:1016858:1,1,1,1 -chr1 1016876 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C1;DP=4;ECNT=2;GERMQ=37;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=38;POPAF=7.3;TLOD=8.22;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:2,2:0.5:4:0,0:1,1:1,1:0|1:1016858_A_G:1016858:1,1,1,1 -chr1 1016965 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C1;DP=4;ECNT=1;GERMQ=37;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=6;POPAF=7.3;TLOD=6.68;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.5:4:0,0:1,1:1,1:1,1,1,1 -chr1 1019636 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=50;POPAF=7.3;TLOD=7.45;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1019636 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C3;DP=6;ECNT=2;GERMQ=58;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=67;POPAF=7.3;TLOD=22.66;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.8:6:0,0:0,3:0,3:0,0,3,3 -chr1 1019689 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C1;DP=4;ECNT=2;GERMQ=37;MBQ=34,34;MFRL=0,0;MMQ=60,60;MPOS=126;POPAF=7.3;TLOD=6.98;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.5:4:0,0:1,1:1,1:1,1,1,1 -chr1 1019833 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=115;POPAF=7.3;TLOD=7.48;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.75:2:0,1:0,0:0,2:0,0,0,2 -chr1 1019833 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=136;POPAF=7.3;TLOD=7.12;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1020217 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|19%2C17;DP=36;ECNT=1;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=42;POPAF=7.3;TLOD=131.67;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,36:0.952:36:0,0:0,19:0,19:0,0,19,17 -chr1 1020217 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|9%2C3;DP=12;ECNT=1;GERMQ=76;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=44;POPAF=7.3;TLOD=40.82;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,12:0.909:12:0,0:0,9:0,9:0,0,9,3 -chr1 1020697 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=2;GERMQ=47;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=86;POPAF=7.3;TLOD=8.7;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,2:0.667:2:0,0:0,1:0,1:0|1:1020681_A_AG:1020681:0,0,1,1 -chr1 1021740 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C4;DP=6;ECNT=1;GERMQ=58;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=97;POPAF=7.3;TLOD=22.18;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.857:6:0,1:0,2:0,5:0,0,2,4 -chr1 1021740 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=66;POPAF=7.3;TLOD=7.45;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1022382 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=19%2C23|1%2C1;DP=48;ECNT=1;GERMQ=93;MBQ=33,30;MFRL=0,0;MMQ=60,60;MPOS=101;POPAF=7.3;TLOD=3.96;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:42,2:0.068:44:6,0:18,1:26,1:19,23,1,1 -chr1 1022388 . A T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=15%2C20|1%2C1;DP=37;ECNT=1;GERMQ=93;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=136;POPAF=7.3;TLOD=4.79;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:35,2:0.087:37:4,0:15,1:20,1:15,20,1,1 -chr1 1023351 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=94;POPAF=7.3;TLOD=7.15;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1023525 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=126;POPAF=7.3;TLOD=3.58;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 1023525 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=2;GERMQ=47;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=10;POPAF=7.3;TLOD=6.75;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1023573 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=2;GERMQ=47;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=58;POPAF=7.3;TLOD=7.25;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1024462 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=135;POPAF=7.3;TLOD=7.25;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1026830 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=37;POPAF=7.3;TLOD=7.15;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1026830 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=131;POPAF=7.3;TLOD=7.25;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1031917 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=64;POPAF=7.3;TLOD=7.35;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1034279 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=67;POPAF=7.3;TLOD=7.25;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1035987 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C1;DP=3;ECNT=1;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=8;POPAF=7.3;TLOD=10.75;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,0:0,2:0,2:0,0,2,1 -chr1 1035987 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=1;GERMQ=52;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=50;POPAF=7.3;TLOD=14.53;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 1036754 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=3;ECNT=1;GERMQ=46;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=47;POPAF=7.3;TLOD=6.78;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.75:2:0,0:0,2:0,2:0,0,2,0 -chr1 1036754 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C5;DP=9;ECNT=1;GERMQ=67;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=68;POPAF=7.3;TLOD=32.55;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,9:0.875:9:0,1:0,4:0,6:0,0,4,5 -chr1 1037505 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C5|1%2C1;DP=9;ECNT=1;GERMQ=43;MBQ=32,34;MFRL=0,0;MMQ=60,60;MPOS=64;POPAF=7.3;TLOD=6.13;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,2:0.25:9:2,0:2,1:5,1:2,5,1,1 -chr1 1037956 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C3;DP=6;ECNT=3;GERMQ=58;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=60;POPAF=7.3;TLOD=22.26;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.8:6:0,0:0,3:0,3:0,0,3,3 -chr1 1037956 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C3;DP=9;ECNT=3;GERMQ=58;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=36;POPAF=7.3;TLOD=21.38;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.819:6:0,0:0,3:0,3:0,0,3,3 -chr1 1037997 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C3;DP=7;ECNT=3;GERMQ=60;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=84;POPAF=7.3;TLOD=25.44;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,7:0.833:7:0,0:0,4:0,4:0,0,4,3 -chr1 1037997 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=3;GERMQ=52;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=53;POPAF=7.3;TLOD=14.63;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 1038078 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C2;DP=5;ECNT=3;GERMQ=55;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=15;POPAF=7.3;TLOD=18.58;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.8:5:0,0:0,3:0,3:0,0,3,2 -chr1 1038078 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=3;GERMQ=44;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=142;POPAF=7.3;TLOD=3.58;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,0:0,1:0,0,0,1 -chr1 1038288 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C1;DP=5;ECNT=1;GERMQ=55;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=52;POPAF=7.3;TLOD=17.21;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.833:5:0,0:0,4:0,4:0,0,4,1 -chr1 1038288 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C2;DP=6;ECNT=1;GERMQ=58;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=56;POPAF=7.3;TLOD=21.76;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.833:6:0,0:0,4:0,4:0,0,4,2 -chr1 1038762 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=4%2C5|1%2C1;DP=11;ECNT=6;GERMQ=47;MBQ=33,31;MFRL=0,0;MMQ=60,60;MPOS=137;POPAF=7.3;TLOD=5.43;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:9,2:0.25:11:1,0:4,1:5,1:4,5,1,1 -chr1 1038765 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=3%2C2|1%2C1;DP=7;ECNT=7;GERMQ=40;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=62;POPAF=7.3;TLOD=6.25;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:5,2:0.333:7:0,0:3,1:3,1:3,2,1,1 -chr1 1038775 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=3%2C2|1%2C1;DP=7;ECNT=7;GERMQ=40;MBQ=34,31;MFRL=0,0;MMQ=60,60;MPOS=86;POPAF=7.3;TLOD=5.85;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:5,2:0.333:7:0,0:3,1:3,1:3,2,1,1 -chr1 1038800 . G T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C4;DP=9;ECNT=6;GERMQ=63;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=53;POPAF=7.3;TLOD=28.38;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.841:8:0,0:0,4:0,4:0,0,4,4 -chr1 1038800 . G T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C3;DP=6;ECNT=7;GERMQ=58;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=101;POPAF=7.3;TLOD=21.76;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.833:6:0,0:0,3:0,4:0,0,3,3 -chr1 1038819 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C4;DP=8;ECNT=6;GERMQ=63;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=72;POPAF=7.3;TLOD=28.42;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.833:8:0,0:0,4:0,4:0,0,4,4 -chr1 1038819 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C3;DP=6;ECNT=7;GERMQ=58;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=120;POPAF=7.3;TLOD=21.96;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.833:6:0,0:0,3:0,4:0,0,3,3 -chr1 1038845 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C3;DP=6;ECNT=6;GERMQ=58;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=87;POPAF=7.3;TLOD=22.53;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.8:6:0,0:0,3:0,3:0,0,3,3 -chr1 1038845 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=4;ECNT=7;GERMQ=47;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=50;POPAF=7.3;TLOD=7.38;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.684:2:0,0:0,1:0,1:0,0,1,1 -chr1 1038916 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=6;GERMQ=46;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=76;POPAF=7.3;TLOD=7.12;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1038916 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=7;GERMQ=44;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=75;POPAF=7.3;TLOD=3.58;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,0:0,1:0,0,0,1 -chr1 1039114 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C3;DP=5;ECNT=2;GERMQ=55;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=69;POPAF=7.3;TLOD=17.78;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.8:5:0,1:0,2:0,3:0,0,2,3 -chr1 1039114 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=1;GERMQ=50;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=103;POPAF=7.3;TLOD=10.85;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,1:0,1:0,2:0,0,1,2 -chr1 1039190 . T G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=2;GERMQ=44;MBQ=0,29;MFRL=0,0;MMQ=60,60;MPOS=145;POPAF=7.3;TLOD=3.01;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.684:1:0,0:0,0:0,1:0,0,0,1 -chr1 1039282 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C0;DP=4;ECNT=1;GERMQ=50;MBQ=0,29;MFRL=0,0;MMQ=60,60;MPOS=1;POPAF=7.3;TLOD=9.83;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.8:3:0,0:0,3:0,3:0,0,3,0 -chr1 1039514 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=40;POPAF=7.3;TLOD=7.15;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1039514 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=121;POPAF=7.3;TLOD=3.28;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 1039753 . T A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=1;GERMQ=49;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=113;POPAF=7.3;TLOD=8.4;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,0:0,1:0,2:0,0,1,2 -chr1 1039753 . T A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=1;GERMQ=50;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=124;POPAF=7.3;TLOD=10.35;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,1:0,1:0,2:0,0,1,2 -chr1 1040322 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=101;POPAF=7.3;TLOD=7.45;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1040322 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=44;MBQ=0,29;MFRL=0,0;MMQ=60,60;MPOS=73;POPAF=7.3;TLOD=3.01;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.684:1:0,1:0,0:0,1:0,0,0,1 -chr1 1041492 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C0|4%2C2;DP=8;ECNT=1;GERMQ=44;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=31;POPAF=7.3;TLOD=20.35;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,6:0.718:7:0,0:1,4:1,4:1,0,4,2 -chr1 1041586 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=12%2C13|1%2C1;DP=27;ECNT=1;GERMQ=83;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=99;POPAF=7.3;TLOD=5.02;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:25,2:0.111:27:2,0:12,1:15,1:12,13,1,1 -chr1 1041950 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=36;POPAF=7.3;TLOD=6.85;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1042190 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=85;POPAF=7.3;TLOD=7.25;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1042190 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=77;POPAF=7.3;TLOD=7.02;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1042400 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,29;MFRL=0,0;MMQ=60,60;MPOS=20;POPAF=7.3;TLOD=3.08;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 1042400 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C2;DP=5;ECNT=2;GERMQ=55;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=24;POPAF=7.3;TLOD=18.28;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.8:5:0,0:0,3:0,3:0,0,3,2 -chr1 1042478 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4%2C3|1%2C1;DP=9;ECNT=2;GERMQ=43;MBQ=34,32;MFRL=0,0;MMQ=60,60;MPOS=124;POPAF=7.3;TLOD=5.88;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,2:0.286:9:0,0:4,1:4,1:4,3,1,1 -chr1 1043295 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=7%2C7|1%2C1;DP=16;ECNT=1;GERMQ=57;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=70;POPAF=7.3;TLOD=5.42;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:14,2:0.168:16:2,0:6,1:9,1:7,7,1,1 -chr1 1043611 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=11%2C9|1%2C1;DP=22;ECNT=1;GERMQ=71;MBQ=35,31;MFRL=0,0;MMQ=60,60;MPOS=35;POPAF=7.3;TLOD=4.96;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:20,2:0.143:22:0,0:11,1:11,1:11,9,1,1 -chr1 1044368 . A T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,23;MFRL=0,0;MMQ=60,60;MPOS=12;POPAF=7.3;TLOD=4.03;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,0:0,1:0,0,1,1 -chr1 1044368 . A T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C4;DP=4;ECNT=1;GERMQ=52;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=122;POPAF=7.3;TLOD=14.21;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.833:4:0,4:0,0:0,4:0,0,0,4 -chr1 1045080 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=43;POPAF=7.3;TLOD=3.48;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 1045080 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=3;ECNT=1;GERMQ=47;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=83;POPAF=7.3;TLOD=6.78;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.684:2:0,0:0,1:0,1:0,0,1,1 -chr1 1045686 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=1%2C2|1%2C1;DP=5;ECNT=3;GERMQ=38;MBQ=35,29;MFRL=0,0;MMQ=60,60;MPOS=25;POPAF=7.3;TLOD=5.45;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,2:0.4:5:1,0:1,1:2,1:1,2,1,1 -chr1 1045707 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=17;POPAF=7.3;TLOD=7.35;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1045707 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C3;DP=5;ECNT=3;GERMQ=55;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=26;POPAF=7.3;TLOD=18.15;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.8:5:0,0:0,2:0,3:0,0,2,3 -chr1 1045784 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=5%2C4|1%2C1;DP=11;ECNT=3;GERMQ=47;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=34;POPAF=7.3;TLOD=5.93;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:9,2:0.25:11:0,0:5,1:5,1:5,4,1,1 -chr1 1046488 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=10%2C14|1%2C1;DP=26;ECNT=2;GERMQ=81;MBQ=32,31;MFRL=0,0;MMQ=60,60;MPOS=64;POPAF=7.3;TLOD=4.77;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:24,2:0.118:26:3,0:10,1:14,1:10,14,1,1 -chr1 1046551 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C4;DP=12;ECNT=2;GERMQ=60;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=127;POPAF=7.3;TLOD=24.93;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,7:0.876:7:0,0:0,3:0,5:0,0,3,4 -chr1 1046551 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C5;DP=10;ECNT=1;GERMQ=64;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=98;POPAF=7.3;TLOD=29.77;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.897:8:0,4:0,3:0,7:0,0,3,5 -chr1 1047064 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|5%2C6;DP=11;ECNT=3;GERMQ=72;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=86;POPAF=7.3;TLOD=40.34;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,11:0.888:11:0,1:0,5:0,7:0,0,5,6 -chr1 1047064 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C3;DP=7;ECNT=3;GERMQ=61;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=51;POPAF=7.3;TLOD=25.74;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,7:0.833:7:0,0:0,4:0,4:0,0,4,3 -chr1 1047082 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C4;DP=10;ECNT=3;GERMQ=58;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=104;POPAF=7.3;TLOD=18.91;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.867:6:0,1:0,2:0,5:0,0,2,4 -chr1 1047082 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|5%2C4;DP=10;ECNT=3;GERMQ=67;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=69;POPAF=7.3;TLOD=29.89;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,9:0.857:9:0,0:0,5:0,5:0,0,5,4 -chr1 1047133 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=3;GERMQ=52;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=52;POPAF=7.3;TLOD=14.61;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.8:4:0,1:0,2:0,3:0,0,2,2 -chr1 1047133 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C4;DP=9;ECNT=3;GERMQ=61;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=57;POPAF=7.3;TLOD=25.91;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,7:0.841:7:0,0:0,3:0,4:0,0,3,4 -chr1 1047233 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C3|1%2C1;DP=8;ECNT=1;GERMQ=42;MBQ=32,34;MFRL=0,0;MMQ=60,60;MPOS=57;POPAF=7.3;TLOD=6.18;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,2:0.286:8:0,0:3,1:4,1:3,3,1,1 -chr1 1047614 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=25;POPAF=7.3;TLOD=7.45;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1047823 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C3|1%2C1;DP=8;ECNT=1;GERMQ=41;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=47;POPAF=7.3;TLOD=6.45;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,2:0.333:8:0,0:3,1:3,1:3,3,1,1 -chr1 1048086 . G C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=14%2C9|1%2C1;DP=25;ECNT=4;GERMQ=78;MBQ=34,34;MFRL=0,0;MMQ=60,60;MPOS=63;POPAF=7.3;TLOD=5.27;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:23,2:0.118:25:0,0:14,1:14,1:14,9,1,1 -chr1 1048090 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=14%2C9|1%2C1;DP=25;ECNT=4;GERMQ=78;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=68;POPAF=7.3;TLOD=4.97;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:23,2:0.118:25:0,0:14,1:14,1:14,9,1,1 -chr1 1048096 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=22%2C16|1%2C1;DP=43;ECNT=1;GERMQ=93;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=47;POPAF=7.3;TLOD=4.7;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:38,2:0.079:40:0,0:22,1:22,1:22,16,1,1 -chr1 1048129 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=10%2C12|1%2C1;DP=24;ECNT=4;GERMQ=76;MBQ=31,34;MFRL=0,0;MMQ=60,60;MPOS=46;POPAF=7.3;TLOD=5.34;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:22,2:0.126:24:0,0:10,1:13,1:10,12,1,1 -chr1 1048331 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5%2C8|1%2C1;DP=16;ECNT=2;GERMQ=55;MBQ=34,34;MFRL=0,0;MMQ=60,60;MPOS=135;POPAF=7.3;TLOD=5.68;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:13,2:0.179:15:2,0:5,1:8,1:5,8,1,1 -chr1 1048342 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5%2C8|1%2C1;DP=15;ECNT=2;GERMQ=55;MBQ=34,29;MFRL=0,0;MMQ=60,60;MPOS=118;POPAF=7.3;TLOD=4.61;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:13,2:0.167:15:2,0:5,1:9,1:5,8,1,1 -chr1 1048912 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=7%2C7|1%2C1;DP=16;ECNT=1;GERMQ=57;MBQ=35,33;MFRL=0,0;MMQ=60,60;MPOS=53;POPAF=7.3;TLOD=5.41;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:14,2:0.167:16:2,0:7,1:9,1:7,7,1,1 -chr1 1049616 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=6%2C4|1%2C1;DP=12;ECNT=1;GERMQ=48;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=56;POPAF=7.3;TLOD=5.51;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:10,2:0.222:12:0,0:6,1:6,1:6,4,1,1 -chr1 1051063 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=94;POPAF=7.3;TLOD=7.25;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1051820 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=44;POPAF=7.3;TLOD=3.48;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 1054866 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=6%2C4|1%2C1;DP=12;ECNT=1;GERMQ=49;MBQ=35,33;MFRL=0,0;MMQ=60,60;MPOS=55;POPAF=7.3;TLOD=5.81;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:10,2:0.222:12:0,0:6,1:6,1:6,4,1,1 -chr1 1054929 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=7%2C4|1%2C1;DP=15;ECNT=3;GERMQ=50;MBQ=33,26;MFRL=0,0;MMQ=60,60;MPOS=70;POPAF=7.3;TLOD=4.29;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:11,2:0.2:13:0,0:7,1:7,1:7,4,1,1 -chr1 1055000 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|15%2C16;DP=33;ECNT=3;GERMQ=93;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=60;POPAF=7.3;TLOD=113.32;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,31:0.948:31:0,1:0,15:0,17:0,0,15,16 -chr1 1055000 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|13%2C11;DP=25;ECNT=3;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=55;POPAF=7.3;TLOD=81.75;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,24:0.943:24:0,0:0,12:0,15:0,0,13,11 -chr1 1055037 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|13%2C13;DP=30;ECNT=3;GERMQ=93;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=88;POPAF=7.3;TLOD=92.44;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,26:0.944:26:0,1:0,12:0,15:0,0,13,13 -chr1 1055037 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|18%2C13;DP=33;ECNT=3;GERMQ=93;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=55;POPAF=7.3;TLOD=106.28;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,31:0.955:31:0,0:0,17:0,20:0,0,18,13 -chr1 1055137 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|19%2C14;DP=34;ECNT=3;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=54;POPAF=7.3;TLOD=114.95;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,33:0.955:33:0,0:0,18:0,20:0,0,19,14 -chr1 1055137 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|15%2C16;DP=31;ECNT=1;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=70;POPAF=7.3;TLOD=113.38;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,31:0.952:31:0,3:0,15:0,19:0,0,15,16 -chr1 1055225 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=14%2C16|1%2C1;DP=33;ECNT=1;GERMQ=93;MBQ=34,31;MFRL=0,0;MMQ=60,60;MPOS=28;POPAF=7.3;TLOD=4.3;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:30,2:0.079:32:5,0:14,1:22,1:14,16,1,1 -chr1 1055393 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|13%2C17;DP=31;ECNT=2;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=79;POPAF=7.3;TLOD=102.54;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,30:0.951:30:0,5:0,10:0,18:0,0,13,17 -chr1 1055393 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|21%2C21;DP=45;ECNT=3;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=73;POPAF=7.3;TLOD=157.24;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,42:0.964:42:0,4:0,21:0,25:0,0,21,21 -chr1 1055408 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=19%2C19|1%2C1;DP=40;ECNT=3;GERMQ=93;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=95;POPAF=7.3;TLOD=4.98;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:38,2:0.077:40:3,0:19,1:23,1:19,19,1,1 -chr1 1055426 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|12%2C12;DP=28;ECNT=2;GERMQ=93;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=103;POPAF=7.3;TLOD=85.82;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,24:0.943:24:0,2:0,12:0,14:0,0,12,12 -chr1 1055426 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|20%2C19;DP=40;ECNT=3;GERMQ=93;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=99;POPAF=7.3;TLOD=140.91;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,39:0.962:39:0,3:0,20:0,24:0,0,20,19 -chr1 1055598 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=24%2C25|1%2C1;DP=52;ECNT=4;GERMQ=93;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=50;POPAF=7.3;TLOD=4.61;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:49,2:0.065:51:4,0:24,1:28,1:24,25,1,1 -chr1 1055604 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|29%2C32;DP=65;ECNT=1;GERMQ=93;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=73;POPAF=7.3;TLOD=216.66;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,61:0.974:61:0,3:0,29:0,36:0,0,29,32 -chr1 1055604 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|24%2C25;DP=49;ECNT=4;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=67;POPAF=7.3;TLOD=179.04;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,49:0.966:49:0,3:0,23:0,27:0,0,24,25 -chr1 1055699 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=18%2C18|1%2C1;DP=42;ECNT=4;GERMQ=93;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=5;POPAF=7.3;TLOD=4.59;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:36,2:0.078:38:1,0:17,1:22,1:18,18,1,1 -chr1 1055959 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=17%2C27|1%2C1;DP=47;ECNT=1;GERMQ=93;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=32;POPAF=7.3;TLOD=4.51;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:44,2:0.065:46:10,0:17,1:28,1:17,27,1,1 -chr1 1063015 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C1;DP=4;ECNT=2;GERMQ=37;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=54;POPAF=7.3;TLOD=6.98;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.5:4:0,0:1,1:1,1:1,1,1,1 -chr1 1063121 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|3%2C0;DP=5;ECNT=1;GERMQ=37;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=33;POPAF=7.3;TLOD=9.83;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,3:0.667:5:0,0:1,3:1,3:1,1,3,0 -chr1 1063121 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|0%2C1;DP=3;ECNT=2;GERMQ=39;MBQ=34,34;MFRL=0,0;MMQ=60,60;MPOS=125;POPAF=7.3;TLOD=3.1;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,1:0.5:3:0,0:1,0:1,1:1,1,0,1 -chr1 1064564 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,30;MFRL=0,0;MMQ=60,60;MPOS=145;POPAF=7.3;TLOD=6.48;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.75:2:0,2:0,0:0,2:0,0,0,2 -chr1 1065797 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=53%2C37|4%2C2;DP=97;ECNT=1;GERMQ=93;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=69;POPAF=7.3;TLOD=15.3;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:90,6:0.085:96:0,0:51,4:53,4:53,37,4,2 -chr1 1065797 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=41%2C31|1%2C1;DP=75;ECNT=1;GERMQ=93;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=52;POPAF=7.3;TLOD=4.18;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:72,2:0.044:74:0,0:41,1:42,1:41,31,1,1 -chr1 1065963 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=15%2C18|1%2C1;DP=37;ECNT=1;GERMQ=93;MBQ=32,32;MFRL=0,0;MMQ=60,60;MPOS=6;POPAF=7.3;TLOD=4.6;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:33,2:0.079:35:6,0:15,1:22,1:15,18,1,1 -chr1 1066087 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=19%2C15|1%2C1;DP=36;ECNT=4;GERMQ=93;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=102;POPAF=7.3;TLOD=4.74;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:34,2:0.083:36:1,0:19,1:21,1:19,15,1,1 -chr1 1066088 . A C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=19%2C15|1%2C1;DP=36;ECNT=4;GERMQ=93;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=96;POPAF=7.3;TLOD=4.41;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:34,2:0.083:36:1,0:19,1:21,1:19,15,1,1 -chr1 1066174 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=16%2C18|1%2C1;DP=37;ECNT=4;GERMQ=93;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=25;POPAF=7.3;TLOD=4.89;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:34,2:0.087:36:0,0:16,1:20,1:16,18,1,1 -chr1 1066230 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=16%2C20|1%2C1;DP=38;ECNT=4;GERMQ=93;MBQ=33,30;MFRL=0,0;MMQ=60,56;MPOS=62;POPAF=7.3;TLOD=4.25;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:36,2:0.083:38:0,0:16,1:21,1:16,20,1,1 -chr1 1066726 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5%2C6|1%2C1;DP=13;ECNT=1;GERMQ=51;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=76;POPAF=7.3;TLOD=5.71;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:11,2:0.222:13:1,0:5,1:6,1:5,6,1,1 -chr1 1066769 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4%2C6|1%2C1;DP=12;ECNT=1;GERMQ=48;MBQ=33,30;MFRL=0,0;MMQ=60,60;MPOS=10;POPAF=7.3;TLOD=5.15;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:10,2:0.222:12:2,0:3,1:6,1:4,6,1,1 -chr1 1067007 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=15%2C16|2%2C2;DP=36;ECNT=3;GERMQ=85;MBQ=32,31;MFRL=0,0;MMQ=60,60;MPOS=14;POPAF=7.3;TLOD=10.87;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:31,4:0.143:35:1,0:14,2:17,2:15,16,2,2 -chr1 1067007 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=13%2C15|4%2C2;DP=34;ECNT=1;GERMQ=67;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=69;POPAF=7.3;TLOD=17.95;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:28,6:0.227:34:2,0:13,4:16,4:13,15,4,2 -chr1 1067159 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=11%2C9|2%2C1;DP=24;ECNT=3;GERMQ=65;MBQ=34,32;MFRL=0,0;MMQ=60,60;MPOS=79;POPAF=7.3;TLOD=7.99;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:20,3:0.2:23:0,0:11,2:11,2:11,9,2,1 -chr1 1067159 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=6%2C6|2%2C4;DP=18;ECNT=2;GERMQ=40;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=93;POPAF=7.3;TLOD=19.06;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:12,6:0.385:18:1,2:6,2:7,4:6,6,2,4 -chr1 1067173 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=10%2C10|1%2C1;DP=23;ECNT=3;GERMQ=71;MBQ=32,34;MFRL=0,0;MMQ=60,60;MPOS=37;POPAF=7.3;TLOD=5.39;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:20,2:0.133:22:0,0:9,1:12,1:10,10,1,1 -chr1 1067193 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=8%2C9|1%2C1;DP=19;ECNT=2;GERMQ=64;MBQ=35,32;MFRL=0,0;MMQ=60,60;MPOS=14;POPAF=7.3;TLOD=5.31;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:17,2:0.167:19:1,0:8,1:9,1:8,9,1,1 -chr1 1067708 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=7%2C7|3%2C2;DP=20;ECNT=1;GERMQ=45;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=129;POPAF=7.3;TLOD=15.27;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:14,5:0.307:19:1,0:7,3:8,3:7,7,3,2 -chr1 1068165 . G T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=4%2C3|1%2C1;DP=9;ECNT=3;GERMQ=43;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=94;POPAF=7.3;TLOD=5.83;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,2:0.25:9:1,0:4,1:5,1:4,3,1,1 -chr1 1068198 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=7%2C8|1%2C1;DP=18;ECNT=3;GERMQ=59;MBQ=33,31;MFRL=0,0;MMQ=60,60;MPOS=98;POPAF=7.3;TLOD=5.18;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:15,2:0.179:17:1,0:7,1:8,1:7,8,1,1 -chr1 1068240 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C3|1%2C1;DP=8;ECNT=1;GERMQ=41;MBQ=34,34;MFRL=0,0;MMQ=60,60;MPOS=86;POPAF=7.3;TLOD=6.35;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,2:0.333:8:0,0:3,1:3,1:3,3,1,1 -chr1 1068249 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=7%2C7|2%2C2;DP=18;ECNT=3;GERMQ=48;MBQ=34,32;MFRL=0,0;MMQ=60,60;MPOS=55;POPAF=7.3;TLOD=12.05;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:14,4:0.273:18:0,0:7,2:7,2:7,7,2,2 -chr1 1068581 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=20%2C28|1%2C1;DP=51;ECNT=4;GERMQ=93;MBQ=33,34;MFRL=0,0;MMQ=60,54;MPOS=106;POPAF=7.3;TLOD=4.76;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:48,2:0.061:50:10,0:19,1:30,1:20,28,1,1 -chr1 1068591 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=28%2C29|2%2C2;DP=63;ECNT=5;GERMQ=93;MBQ=32,35;MFRL=0,0;MMQ=60,60;MPOS=114;POPAF=7.3;TLOD=11.26;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:57,4:0.075:61:8,0:27,2:36,2:28,29,2,2 -chr1 1068604 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=30%2C33|1%2C1;DP=67;ECNT=5;GERMQ=93;MBQ=32,34;MFRL=0,0;MMQ=60,53;MPOS=86;POPAF=7.3;TLOD=4.47;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:63,2:0.049:65:7,0:30,1:37,1:30,33,1,1 -chr1 1068628 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=28%2C36|1%2C2;DP=69;ECNT=5;GERMQ=93;MBQ=33,32;MFRL=0,0;MMQ=60,59;MPOS=116;POPAF=7.3;TLOD=6.45;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:64,3:0.073:67:4,0:27,1:37,2:28,36,1,2 -chr1 1068628 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=20%2C29|1%2C2;DP=52;ECNT=4;GERMQ=93;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=80;POPAF=7.3;TLOD=8.08;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:49,3:0.091:52:6,1:19,1:29,2:20,29,1,2 -chr1 1068664 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=26%2C35|3%2C4;DP=68;ECNT=5;GERMQ=93;MBQ=32,33;MFRL=0,0;MMQ=60,59;MPOS=50;POPAF=7.3;TLOD=20.02;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:61,7:0.122:68:4,0:25,3:35,4:26,35,3,4 -chr1 1068664 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=22%2C27|1%2C2;DP=52;ECNT=4;GERMQ=93;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=44;POPAF=7.3;TLOD=7.5;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:49,3:0.094:52:3,1:21,1:28,2:22,27,1,2 -chr1 1068727 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=4%2C15|1%2C2;DP=25;ECNT=5;GERMQ=63;MBQ=32,34;MFRL=0,0;MMQ=60,59;MPOS=17;POPAF=7.3;TLOD=8.12;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:19,3:0.156:22:0,0:4,1:15,2:4,15,1,2 -chr1 1068905 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=11%2C11|1%2C1;DP=26;ECNT=2;GERMQ=76;MBQ=35,31;MFRL=0,0;MMQ=60,60;MPOS=107;POPAF=7.3;TLOD=4.95;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:22,2:0.141:24:0,0:9,1:11,1:11,11,1,1 -chr1 1068951 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|5%2C7;DP=12;ECNT=2;GERMQ=75;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=61;POPAF=7.3;TLOD=41.4;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,12:0.888:12:0,0:0,5:0,7:0,0,5,7 -chr1 1068951 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C6;DP=10;ECNT=2;GERMQ=70;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=77;POPAF=7.3;TLOD=36.3;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,10:0.875:10:0,0:0,4:0,6:0,0,4,6 -chr1 1069274 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=95;POPAF=7.3;TLOD=7.35;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1069588 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=3;GERMQ=39;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=33;POPAF=7.3;TLOD=3.1;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,1:0.5:2:0,0:1,1:1,1:1,0,1,0 -chr1 1069669 . C T . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=1%2C0|1%2C1;DP=3;ECNT=3;GERMQ=38;MBQ=34,32;MFRL=0,0;MMQ=60,60;MPOS=82;POPAF=7.3;TLOD=8.22;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:1,2:0.5:3:0,0:1,1:1,1:0|1:1069669_C_T:1069669:1,0,1,1 -chr1 1069672 . A G . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=1%2C0|1%2C1;DP=3;ECNT=3;GERMQ=38;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=85;POPAF=7.3;TLOD=8.22;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:1,2:0.5:3:0,0:1,1:1,1:0|1:1069669_C_T:1069669:1,0,1,1 -chr1 1069761 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C1|1%2C1;DP=5;ECNT=1;GERMQ=38;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=141;POPAF=7.3;TLOD=3.82;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,2:0.4:5:0,0:2,1:2,1:2,1,1,1 -chr1 1071168 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5%2C6|1%2C1;DP=13;ECNT=1;GERMQ=50;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=110;POPAF=7.3;TLOD=5.71;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:11,2:0.222:13:1,0:5,1:6,1:5,6,1,1 -chr1 1071610 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=9%2C10|10%2C9;DP=39;ECNT=1;GERMQ=33;MBQ=32,32;MFRL=0,0;MMQ=60,60;MPOS=101;POPAF=7.3;TLOD=62.27;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:19,19:0.538:38:1,2:9,10:11,13:9,10,10,9 -chr1 1071610 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C4|3%2C3;DP=16;ECNT=2;GERMQ=36;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=93;POPAF=7.3;TLOD=18.3;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,6:0.461:13:1,0:3,3:6,5:3,4,3,3 -chr1 1071692 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=9%2C8|1%2C1;DP=19;ECNT=2;GERMQ=64;MBQ=33,31;MFRL=0,0;MMQ=60,60;MPOS=74;POPAF=7.3;TLOD=5.03;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:17,2:0.154:19:0,0:9,1:10,1:9,8,1,1 -chr1 1071823 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=2%2C4|2%2C2;DP=10;ECNT=4;GERMQ=37;MBQ=31,34;MFRL=0,0;MMQ=60,60;MPOS=16;POPAF=7.3;TLOD=13.09;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,4:0.375:10:0,0:2,2:4,2:2,4,2,2 -chr1 1071823 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C2|4%2C1;DP=10;ECNT=2;GERMQ=36;MBQ=25,34;MFRL=0,0;MMQ=60,60;MPOS=80;POPAF=7.3;TLOD=17.04;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,5:0.625:8:1,0:0,4:2,4:1,2,4,1 -chr1 1071842 . G T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=2%2C2|1%2C1;DP=6;ECNT=4;GERMQ=39;MBQ=31,33;MFRL=0,0;MMQ=60,60;MPOS=21;POPAF=7.3;TLOD=6.15;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,2:0.333:6:0,0:2,1:3,1:2,2,1,1 -chr1 1071842 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C2|5%2C3;DP=11;ECNT=2;GERMQ=41;MBQ=34,27;MFRL=0,0;MMQ=60,60;MPOS=88;POPAF=7.3;TLOD=19.94;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,8:0.667:10:1,0:0,4:2,5:0,2,5,3 -chr1 1072067 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=6%2C7|1%2C1;DP=16;ECNT=1;GERMQ=55;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=15;POPAF=7.3;TLOD=5.5;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:13,2:0.182:15:1,0:6,1:8,1:6,7,1,1 -chr1 1072692 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C1;DP=4;ECNT=1;GERMQ=37;MBQ=35,31;MFRL=0,0;MMQ=60,60;MPOS=135;POPAF=7.3;TLOD=6.35;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.5:4:0,0:1,1:1,1:1,1,1,1 -chr1 1073473 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=95;POPAF=7.3;TLOD=7.25;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1073949 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=97;POPAF=7.3;TLOD=3.48;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 1074098 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C1|2%2C3;DP=11;ECNT=1;GERMQ=36;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=74;POPAF=7.3;TLOD=17.05;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,5:0.574:8:0,1:2,2:2,3:2,1,2,3 -chr1 1074098 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|3%2C5;DP=10;ECNT=2;GERMQ=41;MBQ=32,34;MFRL=0,0;MMQ=60,60;MPOS=79;POPAF=7.3;TLOD=29.84;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,8:0.75:10:0,2:1,3:1,5:1,1,3,5 -chr1 1074109 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4%2C5|1%2C1;DP=11;ECNT=2;GERMQ=47;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=79;POPAF=7.3;TLOD=5.82;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:9,2:0.225:11:2,0:3,1:6,1:4,5,1,1 -chr1 1074738 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=21;POPAF=7.3;TLOD=3.38;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 1074879 . G A . haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=2;GERMQ=44;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=34;POPAF=7.3;TLOD=4.2;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,1:0,0:0,1:0|1:1074879_G_A:1074879:0,0,0,1 -chr1 1074893 . A C . base_qual;haplotype AS_FilterStatus=base_qual;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=2;GERMQ=44;MBQ=0,13;MFRL=0,0;MMQ=60,60;MPOS=48;POPAF=7.3;TLOD=4.2;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,0:0,0:0,1:0|1:1074879_G_A:1074879:0,0,0,1 -chr1 1080336 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=122;POPAF=7.3;TLOD=3.48;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 1080437 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=3;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=35;POPAF=7.3;TLOD=7.08;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.684:2:0,0:0,1:0,1:0,0,1,1 -chr1 1081649 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=108;POPAF=7.3;TLOD=7.02;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1081961 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=6%2C6|7%2C3;DP=22;ECNT=1;GERMQ=35;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=86;POPAF=7.3;TLOD=28.93;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:12,10:0.5:22:1,0:6,7:7,7:6,6,7,3 -chr1 1081961 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=6%2C5|3%2C2;DP=17;ECNT=1;GERMQ=41;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=47;POPAF=7.3;TLOD=16.66;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:11,5:0.363:16:0,0:6,3:6,3:6,5,3,2 -chr1 1082207 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=6%2C10|4%2C4;DP=26;ECNT=1;GERMQ=41;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=32;POPAF=7.3;TLOD=25.52;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:16,8:0.352:24:4,1:6,4:10,5:6,10,4,4 -chr1 1082207 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C2|6%2C6;DP=16;ECNT=1;GERMQ=41;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=55;POPAF=7.3;TLOD=40.26;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,12:0.583:16:2,0:2,6:4,6:2,2,6,6 -chr1 1082587 . A C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=16%2C13|1%2C1;DP=31;ECNT=2;GERMQ=93;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=51;POPAF=7.3;TLOD=4.97;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:29,2:0.095:31:2,0:15,1:18,1:16,13,1,1 -chr1 1082609 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=17%2C16|1%2C1;DP=35;ECNT=1;GERMQ=93;MBQ=32,34;MFRL=0,0;MMQ=60,60;MPOS=68;POPAF=7.3;TLOD=4.99;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:33,2:0.087:35:3,0:17,1:20,1:17,16,1,1 -chr1 1083362 . T G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,29;MFRL=0,0;MMQ=60,60;MPOS=140;POPAF=7.3;TLOD=3.08;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 1085966 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C2|2%2C2;DP=8;ECNT=1;GERMQ=36;MBQ=34,34;MFRL=0,0;MMQ=60,60;MPOS=46;POPAF=7.3;TLOD=13.83;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,4:0.5:8:0,0:2,2:2,2:2,2,2,2 -chr1 1085966 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=36;POPAF=7.3;TLOD=6.75;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1087930 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=69;POPAF=7.3;TLOD=3.38;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 1090943 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C2|1%2C1;DP=6;ECNT=1;GERMQ=38;MBQ=25,34;MFRL=0,0;MMQ=60,60;MPOS=75;POPAF=7.3;TLOD=6.67;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,2:0.4:5:0,0:1,1:2,1:1,2,1,1 -chr1 1091327 . C A . haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=2;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=24;POPAF=7.3;TLOD=4.2;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,1:0,0:0,1:0|1:1091327_C_A:1091327:0,0,0,1 -chr1 1091331 . G T . base_qual;haplotype AS_FilterStatus=base_qual;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=2;GERMQ=44;MBQ=0,13;MFRL=0,0;MMQ=60,60;MPOS=20;POPAF=7.3;TLOD=4.2;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,0:0,0:0,1:0|1:1091327_C_A:1091327:0,0,0,1 -chr1 1091421 . T A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=104;POPAF=7.3;TLOD=7.15;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1092440 . C T . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=3;GERMQ=44;MBQ=0,29;MFRL=0,0;MMQ=60,60;MPOS=72;POPAF=7.3;TLOD=8.7;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,0:0,1:0,1:0|1:1092440_C_T:1092440:0,0,1,0 -chr1 1092548 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=3;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=45;POPAF=7.3;TLOD=3.48;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,0:0,1:0,0,0,1 -chr1 1094128 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C1|1%2C1;DP=5;ECNT=2;GERMQ=38;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=133;POPAF=7.3;TLOD=6.47;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,2:0.4:5:0,0:2,1:2,1:2,1,1,1 -chr1 1094198 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C2;DP=5;ECNT=1;GERMQ=55;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=100;POPAF=7.3;TLOD=17.48;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.8:5:0,0:0,3:0,3:0,0,3,2 -chr1 1094198 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|2%2C2;DP=6;ECNT=2;GERMQ=37;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=63;POPAF=7.3;TLOD=13.63;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,4:0.6:6:0,0:1,2:1,2:1,1,2,2 -chr1 1095185 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4%2C3|1%2C1;DP=9;ECNT=2;GERMQ=43;MBQ=31,32;MFRL=0,0;MMQ=60,60;MPOS=9;POPAF=7.3;TLOD=5.78;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,2:0.286:9:0,0:4,1:4,1:4,3,1,1 -chr1 1096160 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C2;DP=6;ECNT=1;GERMQ=58;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=60;POPAF=7.3;TLOD=22.56;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.833:6:0,0:0,4:0,4:0,0,4,2 -chr1 1096160 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=2;GERMQ=52;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=100;POPAF=7.3;TLOD=14.73;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 1096230 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C1;DP=4;ECNT=2;GERMQ=37;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=73;POPAF=7.3;TLOD=6.78;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.5:4:0,0:1,1:1,1:1,1,1,1 -chr1 1096440 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=132;POPAF=7.3;TLOD=3.58;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 1096593 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C1;DP=4;ECNT=1;GERMQ=37;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=65;POPAF=7.3;TLOD=6.78;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.5:4:0,0:1,1:1,1:1,1,1,1 -chr1 1096804 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=96;POPAF=7.3;TLOD=7.15;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1096804 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=2;GERMQ=47;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=64;POPAF=7.3;TLOD=7.05;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1096853 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=2;GERMQ=47;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=15;POPAF=7.3;TLOD=7.15;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1096900 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=15;POPAF=7.3;TLOD=3.58;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 1098619 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=37;POPAF=7.3;TLOD=6.95;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1100859 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C0|1%2C1;DP=3;ECNT=1;GERMQ=38;MBQ=31,33;MFRL=0,0;MMQ=60,60;MPOS=37;POPAF=7.3;TLOD=6.78;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,2:0.5:3:0,0:1,1:1,1:1,0,1,1 -chr1 1101667 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=69;POPAF=7.3;TLOD=3.48;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 1107234 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C1;DP=4;ECNT=1;GERMQ=37;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=58;POPAF=7.3;TLOD=6.78;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.5:4:0,0:1,1:1,1:1,1,1,1 -chr1 1110480 . A T . base_qual;clustered_events;haplotype AS_FilterStatus=base_qual;AS_SB_TABLE=1%2C2|1%2C0;DP=4;ECNT=3;GERMQ=40;MBQ=34,14;MFRL=0,0;MMQ=60,60;MPOS=128;POPAF=7.3;TLOD=3.42;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:3,1:0.4:4:1,0:1,0:2,1:0|1:1110470_AA_CG:1110470:1,2,1,0 -chr1 1110490 . T A . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=1%2C2|1%2C0;DP=5;ECNT=3;GERMQ=40;MBQ=33,24;MFRL=0,0;MMQ=60,60;MPOS=118;POPAF=7.3;TLOD=3.38;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:3,1:0.396:4:1,0:1,1:2,1:0|1:1110470_AA_CG:1110470:1,2,1,0 -chr1 1110673 . T C . base_qual AS_FilterStatus=base_qual;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,19;MFRL=0,0;MMQ=60,60;MPOS=8;POPAF=7.3;TLOD=3.53;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1112230 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C1;DP=4;ECNT=1;GERMQ=37;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=16;POPAF=7.3;TLOD=6.78;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.5:4:0,0:1,1:1,1:1,1,1,1 -chr1 1112351 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=2;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=39;POPAF=7.3;TLOD=10.75;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,0:0,1:0,2:0,0,1,2 -chr1 1112351 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C0|1%2C1;DP=3;ECNT=1;GERMQ=38;MBQ=31,33;MFRL=0,0;MMQ=60,60;MPOS=45;POPAF=7.3;TLOD=6.78;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,2:0.5:3:0,0:1,1:1,1:1,0,1,1 -chr1 1112385 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=2;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=7;POPAF=7.3;TLOD=7.15;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1112865 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=3%2C2|1%2C1;DP=8;ECNT=4;GERMQ=40;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=115;POPAF=7.3;TLOD=6.02;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:5,2:0.334:7:0,0:3,1:3,1:3,2,1,1 -chr1 1112892 . T C . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=5%2C5|1%2C1;DP=12;ECNT=4;GERMQ=49;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=88;POPAF=7.3;TLOD=6.43;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:10,2:0.25:12:0,0:5,1:5,1:0|1:1112892_T_C:1112892:5,5,1,1 -chr1 1112897 . T C . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=5%2C5|1%2C1;DP=12;ECNT=4;GERMQ=49;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=83;POPAF=7.3;TLOD=6.43;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:10,2:0.25:12:0,0:5,1:5,1:0|1:1112892_T_C:1112892:5,5,1,1 -chr1 1113318 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=6%2C4|4%2C4;DP=19;ECNT=2;GERMQ=35;MBQ=32,34;MFRL=0,0;MMQ=60,60;MPOS=84;POPAF=7.3;TLOD=27.87;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:10,8:0.5:18:0,0:5,4:5,5:0|1:1113318_T_C:1113318:6,4,4,4 -chr1 1113322 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=9%2C8|1%2C1;DP=19;ECNT=2;GERMQ=64;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=47;POPAF=7.3;TLOD=5.41;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:17,2:0.167:19:0,0:9,1:9,1:0|1:1113318_T_C:1113318:9,8,1,1 -chr1 1113490 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C3|1%2C1;DP=7;ECNT=2;GERMQ=40;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=110;POPAF=7.3;TLOD=6.15;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:5,2:0.333:7:1,0:2,1:3,1:2,3,1,1 -chr1 1113525 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C4|1%2C1;DP=8;ECNT=2;GERMQ=42;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=137;POPAF=7.3;TLOD=5.98;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,2:0.286:8:1,0:2,1:4,1:2,4,1,1 -chr1 1113546 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=39;MBQ=31,34;MFRL=0,0;MMQ=60,60;MPOS=113;POPAF=7.3;TLOD=3.1;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,1:0.5:2:0,0:1,0:1,1:1,0,0,1 -chr1 1113733 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C2|1%2C1;DP=5;ECNT=1;GERMQ=38;MBQ=31,32;MFRL=0,0;MMQ=60,60;MPOS=53;POPAF=7.3;TLOD=6.17;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,2:0.4:5:1,0:1,1:2,1:1,2,1,1 -chr1 1114590 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5%2C5|1%2C1;DP=12;ECNT=1;GERMQ=49;MBQ=32,32;MFRL=0,0;MMQ=60,60;MPOS=30;POPAF=7.3;TLOD=5.73;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:10,2:0.25:12:0,0:4,1:5,1:5,5,1,1 -chr1 1124975 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=29;POPAF=7.3;TLOD=7.45;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1130087 . T A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=67;POPAF=7.3;TLOD=6.85;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1143811 . T C . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=3;GERMQ=44;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=73;POPAF=7.3;TLOD=4.2;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,1:0,0:0,1:0|1:1143811_T_C:1143811:0,0,0,1 -chr1 1143818 . T C . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=3;GERMQ=44;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=66;POPAF=7.3;TLOD=4.2;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,1:0,0:0,1:0|1:1143811_T_C:1143811:0,0,0,1 -chr1 1143881 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=3;GERMQ=44;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=3;POPAF=7.3;TLOD=3.27;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 1152709 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,34;MFRL=0,0;MMQ=60,32;MPOS=24;POPAF=7.3;TLOD=7.05;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1153882 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=101;POPAF=7.3;TLOD=7.55;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1155197 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=132;POPAF=7.3;TLOD=3.38;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 1158233 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,22;MFRL=0,0;MMQ=60,60;MPOS=104;POPAF=7.3;TLOD=4.03;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1158233 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=81;POPAF=7.3;TLOD=7.35;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1158404 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C1;DP=4;ECNT=1;GERMQ=37;MBQ=32,31;MFRL=0,0;MMQ=60,60;MPOS=97;POPAF=7.3;TLOD=6.38;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.5:4:0,0:1,1:1,1:1,1,1,1 -chr1 1159105 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=49;POPAF=7.3;TLOD=3.48;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 1159358 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=107;POPAF=7.3;TLOD=7.15;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1159701 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=2;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=75;POPAF=7.3;TLOD=4.2;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,1:0,0:0,1:0|1:1159701_C_G:1159701:0,0,0,1 -chr1 1159721 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=2;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=55;POPAF=7.3;TLOD=4.2;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,1:0,0:0,1:0|1:1159701_C_G:1159701:0,0,0,1 -chr1 1160239 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=1;GERMQ=52;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=92;POPAF=7.3;TLOD=13.85;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 1160818 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C1;DP=4;ECNT=1;GERMQ=37;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=29;POPAF=7.3;TLOD=6.68;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.5:4:0,0:1,1:1,1:1,1,1,1 -chr1 1160818 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C3;DP=6;ECNT=1;GERMQ=55;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=54;POPAF=7.3;TLOD=17.98;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.833:5:0,0:0,2:0,4:0,0,2,3 -chr1 1161012 . A T . base_qual;clustered_events;haplotype AS_FilterStatus=base_qual;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=3;GERMQ=44;MBQ=0,13;MFRL=0,0;MMQ=60,60;MPOS=124;POPAF=7.3;TLOD=4.2;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,0:0,0:0,1:0|1:1161012_A_T:1161012:0,0,0,1 -chr1 1161015 . A T . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=3;GERMQ=44;MBQ=0,25;MFRL=0,0;MMQ=60,60;MPOS=127;POPAF=7.3;TLOD=4.2;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,1:0,0:0,1:0|1:1161012_A_T:1161012:0,0,0,1 -chr1 1161018 . A T . base_qual;clustered_events;haplotype AS_FilterStatus=base_qual;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=3;GERMQ=44;MBQ=0,12;MFRL=0,0;MMQ=60,60;MPOS=130;POPAF=7.3;TLOD=4.2;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,0:0,0:0,1:0|1:1161012_A_T:1161012:0,0,0,1 -chr1 1161528 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=41;POPAF=7.3;TLOD=3.58;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 1161528 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=43;POPAF=7.3;TLOD=7.55;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1161712 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C1;DP=4;ECNT=2;GERMQ=37;MBQ=34,32;MFRL=0,0;MMQ=60,60;MPOS=43;POPAF=7.3;TLOD=6.48;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:2,2:0.5:4:0,0:1,1:1,1:0|1:1161712_G_A:1161712:1,1,1,1 -chr1 1161720 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C1;DP=3;ECNT=1;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=108;POPAF=7.3;TLOD=8.04;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.744:3:0,0:0,1:0,2:0,0,2,1 -chr1 1161720 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=2;GERMQ=50;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=34;POPAF=7.3;TLOD=12.4;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.75:3:0,0:0,1:0,2:0|1:1161712_G_A:1161712:0,0,1,2 -chr1 1161907 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=2;GERMQ=49;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=40;POPAF=7.3;TLOD=10.65;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,1:0,1:0,2:0,0,1,2 -chr1 1161955 . T G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=2;GERMQ=44;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=3;POPAF=7.3;TLOD=3.28;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 1161955 . T G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=2;GERMQ=47;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=87;POPAF=7.3;TLOD=6.52;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1162484 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=2;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=111;POPAF=7.3;TLOD=3.48;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 1162557 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=53;POPAF=7.3;TLOD=3.48;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 1162557 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=2;GERMQ=47;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=89;POPAF=7.3;TLOD=7.45;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1162886 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|5%2C4;DP=11;ECNT=3;GERMQ=42;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=59;POPAF=7.3;TLOD=31.57;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,9:0.75:11:0,0:1,5:1,5:1,1,5,4 -chr1 1162886 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C1|2%2C1;DP=6;ECNT=1;GERMQ=37;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=96;POPAF=7.3;TLOD=9.75;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,3:0.5:6:0,0:2,2:2,2:2,1,2,1 -chr1 1162960 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=11%2C9|1%2C1;DP=22;ECNT=3;GERMQ=71;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=90;POPAF=7.3;TLOD=5.23;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:20,2:0.125:22:0,0:11,1:13,1:11,9,1,1 -chr1 1163041 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|21%2C20;DP=44;ECNT=3;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=48;POPAF=7.3;TLOD=146.18;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,41:0.961:41:0,0:0,21:0,23:0,0,21,20 -chr1 1163041 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|10%2C12;DP=23;ECNT=1;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=67;POPAF=7.3;TLOD=77.42;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,22:0.933:22:0,1:0,10:0,13:0,0,10,12 -chr1 1163178 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4%2C4|1%2C1;DP=11;ECNT=1;GERMQ=45;MBQ=34,32;MFRL=0,0;MMQ=60,60;MPOS=125;POPAF=7.3;TLOD=5.7;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:8,2:0.246:10:0,0:4,1:5,1:4,4,1,1 -chr1 1163334 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C0;DP=3;ECNT=1;GERMQ=50;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=16;POPAF=7.3;TLOD=10.43;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.8:3:0,0:0,3:0,3:0,0,3,0 -chr1 1163531 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=12%2C5|1%2C1;DP=19;ECNT=1;GERMQ=64;MBQ=35,33;MFRL=0,0;MMQ=60,60;MPOS=47;POPAF=7.3;TLOD=5.2;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:17,2:0.134:19:0,0:11,1:12,1:12,5,1,1 -chr1 1163718 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=8%2C12|1%2C1;DP=22;ECNT=1;GERMQ=71;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=131;POPAF=7.3;TLOD=5.38;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:20,2:0.118:22:4,0:8,1:14,1:8,12,1,1 -chr1 1163962 . A C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|7%2C9;DP=21;ECNT=1;GERMQ=87;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=64;POPAF=7.3;TLOD=55.5;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,16:0.925:16:0,3:0,7:0,10:0,0,7,9 -chr1 1163962 . A C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|7%2C5;DP=14;ECNT=2;GERMQ=76;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=56;POPAF=7.3;TLOD=44.25;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,12:0.897:12:0,0:0,7:0,7:0,0,7,5 -chr1 1163994 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=8%2C6|1%2C1;DP=16;ECNT=2;GERMQ=57;MBQ=33,35;MFRL=0,0;MMQ=60,60;MPOS=16;POPAF=7.3;TLOD=5.9;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:14,2:0.182:16:0,0:8,1:8,1:8,6,1,1 -chr1 1164679 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=9%2C9|1%2C1;DP=20;ECNT=1;GERMQ=66;MBQ=34,34;MFRL=0,0;MMQ=60,60;MPOS=40;POPAF=7.3;TLOD=5.63;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:18,2:0.154:20:1,0:9,1:10,1:9,9,1,1 -chr1 1164837 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|10%2C10;DP=22;ECNT=2;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=81;POPAF=7.3;TLOD=70.36;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,20:0.93:20:0,1:0,10:0,12:0,0,10,10 -chr1 1164837 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|7%2C7;DP=14;ECNT=1;GERMQ=82;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=45;POPAF=7.3;TLOD=51.72;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,14:0.9:14:0,1:0,7:0,8:0,0,7,7 -chr1 1164939 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C0|4%2C4;DP=10;ECNT=2;GERMQ=48;MBQ=29,33;MFRL=0,0;MMQ=60,60;MPOS=71;POPAF=7.3;TLOD=25.29;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,8:0.875:9:0,0:0,5:0,6:1,0,4,4 -chr1 1164939 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C0|4%2C6;DP=11;ECNT=1;GERMQ=54;MBQ=29,33;MFRL=0,0;MMQ=60,60;MPOS=92;POPAF=7.3;TLOD=31.16;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,10:0.872:11:0,1:0,5:0,6:1,0,4,6 -chr1 1165623 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|11%2C10;DP=21;ECNT=2;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=66;POPAF=7.3;TLOD=77.06;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,21:0.933:21:0,1:0,11:0,13:0,0,11,10 -chr1 1165623 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|6%2C5;DP=11;ECNT=1;GERMQ=73;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=66;POPAF=7.3;TLOD=40.44;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,11:0.889:11:0,0:0,6:0,7:0,0,6,5 -chr1 1165685 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=8%2C12|1%2C1;DP=23;ECNT=2;GERMQ=71;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=71;POPAF=7.3;TLOD=5.07;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:20,2:0.118:22:2,0:8,1:14,1:8,12,1,1 -chr1 1165943 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5%2C5|3%2C4;DP=17;ECNT=1;GERMQ=37;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=88;POPAF=7.3;TLOD=23.39;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:10,7:0.5:17:0,2:5,3:5,5:5,5,3,4 -chr1 1165943 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=6%2C7|2%2C2;DP=17;ECNT=1;GERMQ=46;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=108;POPAF=7.3;TLOD=12.05;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:13,4:0.273:17:1,0:6,2:7,2:6,7,2,2 -chr1 1166689 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|6%2C5;DP=11;ECNT=1;GERMQ=72;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=89;POPAF=7.3;TLOD=40.0;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,11:0.875:11:0,0:0,6:0,6:0,0,6,5 -chr1 1166689 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C3;DP=7;ECNT=1;GERMQ=61;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=102;POPAF=7.3;TLOD=25.64;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,7:0.833:7:0,0:0,4:0,4:0,0,4,3 -chr1 1167682 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4%2C4|1%2C1;DP=10;ECNT=2;GERMQ=45;MBQ=33,31;MFRL=0,0;MMQ=60,60;MPOS=58;POPAF=7.3;TLOD=5.68;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:8,2:0.286:10:0,0:4,1:4,1:4,4,1,1 -chr1 1167762 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4%2C4|1%2C1;DP=10;ECNT=2;GERMQ=45;MBQ=35,35;MFRL=0,0;MMQ=60,60;MPOS=13;POPAF=7.3;TLOD=6.48;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:8,2:0.286:10:0,0:4,1:4,1:4,4,1,1 -chr1 1168162 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=3;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=22;POPAF=7.3;TLOD=7.18;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.684:2:0,0:0,1:0,1:0,0,1,1 -chr1 1168162 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=1;GERMQ=52;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=23;POPAF=7.3;TLOD=15.23;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 1168578 . T G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|8%2C5;DP=13;ECNT=2;GERMQ=78;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=98;POPAF=7.3;TLOD=47.14;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,13:0.9:13:0,0:0,8:0,8:0,0,8,5 -chr1 1168578 . T G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=3;GERMQ=52;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=85;POPAF=7.3;TLOD=14.43;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 1168643 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C5|1%2C1;DP=11;ECNT=2;GERMQ=43;MBQ=35,33;MFRL=0,0;MMQ=60,60;MPOS=100;POPAF=7.3;TLOD=5.8;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,2:0.246:9:0,0:2,1:5,1:2,5,1,1 -chr1 1168643 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=2%2C2|1%2C1;DP=6;ECNT=3;GERMQ=39;MBQ=35,33;MFRL=0,0;MMQ=60,60;MPOS=104;POPAF=7.3;TLOD=6.37;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,2:0.4:6:0,0:2,1:2,1:2,2,1,1 -chr1 1168709 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C1;DP=4;ECNT=3;GERMQ=37;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=89;POPAF=7.3;TLOD=6.68;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.5:4:0,0:1,1:1,1:1,1,1,1 -chr1 1169204 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=36;POPAF=7.3;TLOD=7.35;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1169204 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C2|2%2C1;DP=6;ECNT=1;GERMQ=37;MBQ=33,35;MFRL=0,0;MMQ=60,60;MPOS=35;POPAF=7.3;TLOD=10.15;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,3:0.5:6:1,0:1,2:2,2:1,2,2,1 -chr1 1169591 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C1|3%2C2;DP=6;ECNT=1;GERMQ=41;MBQ=29,31;MFRL=0,0;MMQ=60,60;MPOS=109;POPAF=7.3;TLOD=16.48;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,5:0.667:6:0,0:0,3:1,3:0,1,3,2 -chr1 1169591 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=93;POPAF=7.3;TLOD=7.05;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1169858 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=1;GERMQ=49;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=123;POPAF=7.3;TLOD=10.75;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,1:0,1:0,2:0,0,1,2 -chr1 1169858 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=1;GERMQ=52;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=69;POPAF=7.3;TLOD=14.23;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 1187120 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=2;GERMQ=44;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=63;POPAF=7.3;TLOD=4.2;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,0:0,1:0,1:0|1:1187120_A_G:1187120:0,0,1,0 -chr1 1187129 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=2;GERMQ=44;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=72;POPAF=7.3;TLOD=4.2;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,0:0,1:0,1:0|1:1187120_A_G:1187120:0,0,1,0 -chr1 1205607 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=44;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=95;POPAF=7.3;TLOD=3.28;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 1217614 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=28%2C29|1%2C1;DP=62;ECNT=2;GERMQ=93;MBQ=34,34;MFRL=0,0;MMQ=60,60;MPOS=9;POPAF=7.3;TLOD=4.51;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:57,2:0.052:59:7,0:28,1:35,1:28,29,1,1 -chr1 1217640 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=22%2C21|1%2C1;DP=45;ECNT=2;GERMQ=93;MBQ=34,32;MFRL=0,0;MMQ=60,60;MPOS=75;POPAF=7.3;TLOD=4.44;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:43,2:0.067:45:3,0:22,1:27,1:22,21,1,1 -chr1 1217674 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=10%2C19|1%2C1;DP=31;ECNT=1;GERMQ=93;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=28;POPAF=7.3;TLOD=4.74;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:29,2:0.074:31:7,0:10,1:24,1:10,19,1,1 -chr1 1218486 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=21%2C18|1%2C1;DP=46;ECNT=1;GERMQ=93;MBQ=33,30;MFRL=0,0;MMQ=60,60;MPOS=113;POPAF=7.3;TLOD=3.93;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:39,2:0.066:41:6,0:20,1:27,1:21,18,1,1 -chr1 1218523 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=28%2C29|1%2C1;DP=61;ECNT=1;GERMQ=93;MBQ=32,34;MFRL=0,0;MMQ=60,60;MPOS=79;POPAF=7.3;TLOD=4.6;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:57,2:0.057:59:4,0:28,1:32,1:28,29,1,1 -chr1 1220203 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=10%2C12|1%2C1;DP=24;ECNT=1;GERMQ=76;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=21;POPAF=7.3;TLOD=5.43;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:22,2:0.125:24:3,0:8,1:13,1:10,12,1,1 -chr1 1221034 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C4|1%2C1;DP=8;ECNT=1;GERMQ=42;MBQ=34,34;MFRL=0,0;MMQ=60,60;MPOS=75;POPAF=7.3;TLOD=6.18;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,2:0.286:8:1,0:2,1:4,1:2,4,1,1 -chr1 1221498 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C2|2%2C2;DP=6;ECNT=1;GERMQ=36;MBQ=32,35;MFRL=0,0;MMQ=60,60;MPOS=91;POPAF=7.3;TLOD=13.93;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,4:0.5:6:1,0:0,2:2,2:0,2,2,2 -chr1 1221498 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C2|2%2C2;DP=8;ECNT=2;GERMQ=36;MBQ=32,32;MFRL=0,0;MMQ=60,60;MPOS=83;POPAF=7.3;TLOD=15.38;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:4,4:0.5:8:0,0:2,2:2,2:0|1:1221498_T_C:1221498:2,2,2,2 -chr1 1221502 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C3|1%2C1;DP=8;ECNT=2;GERMQ=41;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=32;POPAF=7.3;TLOD=5.95;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:6,2:0.333:8:0,0:3,1:3,1:0|1:1221498_T_C:1221498:3,3,1,1 -chr1 1222080 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5%2C6|3%2C3;DP=17;ECNT=1;GERMQ=39;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=30;POPAF=7.3;TLOD=18.64;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:11,6:0.364:17:1,0:5,3:6,3:5,6,3,3 -chr1 1222864 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C2|1%2C1;DP=6;ECNT=1;GERMQ=39;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=40;POPAF=7.3;TLOD=6.37;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,2:0.4:6:0,0:2,1:2,1:2,2,1,1 -chr1 1223251 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|6%2C8;DP=26;ECNT=1;GERMQ=53;MBQ=31,33;MFRL=0,0;MMQ=60,60;MPOS=70;POPAF=7.3;TLOD=48.36;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,14:0.842:16:0,3:1,6:1,9:1,1,6,8 -chr1 1223251 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|6%2C10;DP=27;ECNT=1;GERMQ=88;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=79;POPAF=7.3;TLOD=59.3;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,16:0.928:16:0,4:0,6:0,10:0,0,6,10 -chr1 1223932 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=14%2C9|1%2C1;DP=25;ECNT=1;GERMQ=78;MBQ=33,31;MFRL=0,0;MMQ=60,60;MPOS=48;POPAF=7.3;TLOD=4.67;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:23,2:0.105:25:2,0:14,1:16,1:14,9,1,1 -chr1 1224137 . T C . position AS_FilterStatus=position;AS_SB_TABLE=0%2C0|2%2C1;DP=3;ECNT=1;GERMQ=49;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=0;POPAF=7.3;TLOD=10.5;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,0:0,2:0,2:0,0,2,1 -chr1 1224318 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,30;MFRL=0,0;MMQ=60,60;MPOS=150;POPAF=7.3;TLOD=3.18;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 1224418 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=50;POPAF=7.3;TLOD=3.48;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 1225963 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=11;POPAF=7.3;TLOD=3.58;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 1226907 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C1;DP=4;ECNT=2;GERMQ=37;MBQ=32,31;MFRL=0,0;MMQ=60,60;MPOS=61;POPAF=7.3;TLOD=6.38;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.5:4:0,0:1,1:1,1:1,1,1,1 -chr1 1226946 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=1;GERMQ=52;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=46;POPAF=7.3;TLOD=14.43;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 1226946 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=2;GERMQ=47;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=22;POPAF=7.3;TLOD=7.25;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1227938 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C1|1%2C1;DP=3;ECNT=1;GERMQ=38;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=71;POPAF=7.3;TLOD=6.58;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,2:0.5:3:1,0:0,1:1,1:0,1,1,1 -chr1 1232278 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=6%2C6|1%2C1;DP=14;ECNT=1;GERMQ=53;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=6;POPAF=7.3;TLOD=5.51;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:12,2:0.222:14:0,0:6,1:6,1:6,6,1,1 -chr1 1232436 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=14%2C13|1%2C1;DP=29;ECNT=1;GERMQ=88;MBQ=32,31;MFRL=0,0;MMQ=60,60;MPOS=125;POPAF=7.3;TLOD=4.66;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:27,2:0.111:29:0,0:14,1:15,1:14,13,1,1 -chr1 1232533 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=24%2C22|1%2C1;DP=50;ECNT=1;GERMQ=93;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=16;POPAF=7.3;TLOD=4.73;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:46,2:0.074:48:0,0:23,1:24,1:24,22,1,1 -chr1 1234657 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=104%2C106|2%2C2;DP=222;ECNT=1;GERMQ=93;MBQ=33,30;MFRL=0,0;MMQ=60,60;MPOS=134;POPAF=7.3;TLOD=7.74;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:210,4:0.022:214:20,0:103,2:130,2:104,106,2,2 -chr1 1240436 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4%2C4|2%2C2;DP=12;ECNT=1;GERMQ=39;MBQ=31,33;MFRL=0,0;MMQ=60,60;MPOS=63;POPAF=7.3;TLOD=12.59;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:8,4:0.375:12:0,0:3,2:4,2:4,4,2,2 -chr1 1243675 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=47;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=75;POPAF=7.3;TLOD=7.25;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1249858 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=141;POPAF=7.3;TLOD=3.68;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 1250019 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=16;POPAF=7.3;TLOD=3.58;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 1254620 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=31%2C38|1%2C1;DP=75;ECNT=1;GERMQ=93;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=101;POPAF=7.3;TLOD=4.4;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:69,2:0.041:71:9,0:28,1:46,1:31,38,1,1 -chr2 130229486 . G A . clustered_events;haplotype;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|4%2C4;DP=8;ECNT=3;GERMQ=59;MBQ=0,32;MFRL=0,0;MMQ=60,26;MPOS=5;POPAF=7.3;TLOD=35.3;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,8:0.833:8:0,0:0,4:0,4:0|1:130229486_G_A:130229486:0,0,4,4 -chr2 130229486 . G A . clustered_events;haplotype;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=3;GERMQ=43;MBQ=0,31;MFRL=0,0;MMQ=60,36;MPOS=1;POPAF=7.3;TLOD=8.7;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,2:0.667:2:0,0:0,1:0,1:0|1:130229486_G_A:130229486:0,0,1,1 -chr2 130229492 . G A . clustered_events;haplotype;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|4%2C7;DP=12;ECNT=3;GERMQ=67;MBQ=0,32;MFRL=0,0;MMQ=60,21;MPOS=9;POPAF=7.3;TLOD=42.42;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,11:0.893:11:0,3:0,4:0,7:0|1:130229486_G_A:130229486:0,0,4,7 -chr2 130229492 . G A . clustered_events;haplotype;strand_bias;weak_evidence AS_FilterStatus=weak_evidence,strand_bias;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=3;GERMQ=45;MBQ=0,33;MFRL=0,0;MMQ=60,36;MPOS=7;POPAF=7.3;TLOD=10.99;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.75:3:0,1:0,1:0,2:0|1:130229486_G_A:130229486:0,0,1,2 -chr2 130229520 . G A . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|6%2C11;DP=17;ECNT=3;GERMQ=85;MBQ=0,34;MFRL=0,0;MMQ=60,21;MPOS=28;POPAF=7.3;TLOD=45.76;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,17:0.923:17:0,4:0,6:0,11:0,0,6,11 -chr2 130229520 . G A . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|4%2C3;DP=7;ECNT=3;GERMQ=57;MBQ=0,33;MFRL=0,0;MMQ=60,20;MPOS=25;POPAF=7.3;TLOD=19.17;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,7:0.875:7:0,2:0,4:0,6:0,0,4,3 -chr2 130229579 . T C . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|10%2C13;DP=25;ECNT=3;GERMQ=93;MBQ=0,34;MFRL=0,0;MMQ=60,20;MPOS=96;POPAF=7.3;TLOD=58.28;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,23:0.939:23:0,4:0,10:0,14:0,0,10,13 -chr2 130229579 . T C . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|5%2C4;DP=11;ECNT=3;GERMQ=63;MBQ=0,34;MFRL=0,0;MMQ=60,20;MPOS=89;POPAF=7.3;TLOD=21.99;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,9:0.903:9:0,3:0,5:0,8:0,0,5,4 -chr2 130229607 . G C . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|2%2C7;DP=18;ECNT=3;GERMQ=62;MBQ=0,35;MFRL=0,0;MMQ=60,20;MPOS=115;POPAF=7.3;TLOD=21.45;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,9:0.906:9:0,3:0,2:0,7:0,0,2,7 -chr2 130229607 . G C . clustered_events;map_qual;weak_evidence AS_FilterStatus=weak_evidence,map_qual;AS_SB_TABLE=0%2C0|3%2C2;DP=9;ECNT=3;GERMQ=51;MBQ=0,34;MFRL=0,0;MMQ=60,20;MPOS=111;POPAF=7.3;TLOD=11.61;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.873:5:0,1:0,3:0,5:0,0,3,2 -chr2 130229647 . A T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C6;DP=11;ECNT=3;GERMQ=65;MBQ=0,33;MFRL=0,0;MMQ=60,52;MPOS=10;POPAF=7.3;TLOD=33.32;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,10:0.88:10:0,2:0,4:0,6:0,0,4,6 -chr2 130229647 . A T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|7%2C7;DP=19;ECNT=3;GERMQ=78;MBQ=0,33;MFRL=0,0;MMQ=60,44;MPOS=9;POPAF=7.3;TLOD=46.52;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,14:0.932:14:0,4:0,7:0,11:0,0,7,7 -chr2 130229689 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|6%2C8;DP=14;ECNT=8;GERMQ=76;MBQ=0,33;MFRL=0,0;MMQ=60,50;MPOS=50;POPAF=7.3;TLOD=50.62;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,14:0.9:14:0,2:0,6:0,8:0,0,6,8 -chr2 130229689 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|11%2C10;DP=21;ECNT=8;GERMQ=93;MBQ=0,34;MFRL=0,0;MMQ=60,43;MPOS=46;POPAF=7.3;TLOD=73.07;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,21:0.944:21:0,5:0,11:0,16:0,0,11,10 -chr2 130229709 . T G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|6%2C8;DP=14;ECNT=8;GERMQ=76;MBQ=0,33;MFRL=0,0;MMQ=60,50;MPOS=70;POPAF=7.3;TLOD=49.72;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,14:0.9:14:0,2:0,6:0,8:0,0,6,8 -chr2 130229709 . T G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|11%2C10;DP=21;ECNT=8;GERMQ=93;MBQ=0,34;MFRL=0,0;MMQ=60,43;MPOS=66;POPAF=7.3;TLOD=73.07;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,21:0.944:21:0,5:0,11:0,16:0,0,11,10 -chr2 130229735 . T G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|6%2C8;DP=14;ECNT=8;GERMQ=76;MBQ=0,33;MFRL=0,0;MMQ=60,50;MPOS=96;POPAF=7.3;TLOD=38.77;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,14:0.9:14:0,2:0,6:0,8:0,0,6,8 -chr2 130229735 . T G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|11%2C10;DP=21;ECNT=8;GERMQ=93;MBQ=0,34;MFRL=0,0;MMQ=60,43;MPOS=92;POPAF=7.3;TLOD=73.07;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,21:0.944:21:0,5:0,11:0,16:0,0,11,10 -chr2 130229747 . A G . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|7%2C10;DP=17;ECNT=8;GERMQ=85;MBQ=0,32;MFRL=0,0;MMQ=60,49;MPOS=105;POPAF=7.3;TLOD=75.46;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,17:0.917:17:0,3:0,7:0,10:0|1:130229747_A_G:130229747:0,0,7,10 -chr2 130229747 . A G . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|12%2C10;DP=22;ECNT=8;GERMQ=93;MBQ=0,32;MFRL=0,0;MMQ=60,39;MPOS=104;POPAF=7.3;TLOD=97.74;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,22:0.947:22:0,5:0,12:0,17:0|1:130229747_A_G:130229747:0,0,12,10 -chr2 130229753 . G A . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|8%2C11;DP=19;ECNT=8;GERMQ=91;MBQ=0,33;MFRL=0,0;MMQ=60,49;MPOS=111;POPAF=7.3;TLOD=82.34;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,19:0.929:19:0,3:0,6:0,12:0|1:130229747_A_G:130229747:0,0,8,11 -chr2 130229753 . G A . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|13%2C11;DP=24;ECNT=8;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,40;MPOS=110;POPAF=7.3;TLOD=104.51;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,24:0.952:24:0,5:0,12:0,19:0|1:130229747_A_G:130229747:0,0,13,11 -chr2 130229756 . G A . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|8%2C11;DP=19;ECNT=8;GERMQ=91;MBQ=0,33;MFRL=0,0;MMQ=60,49;MPOS=111;POPAF=7.3;TLOD=82.34;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,19:0.929:19:0,4:0,8:0,12:0|1:130229747_A_G:130229747:0,0,8,11 -chr2 130229756 . G A . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|14%2C12;DP=26;ECNT=8;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,36;MPOS=109;POPAF=7.3;TLOD=111.22;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,26:0.955:26:0,6:0,14:0,20:0|1:130229747_A_G:130229747:0,0,14,12 -chr2 130229803 . G C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|7%2C9;DP=18;ECNT=8;GERMQ=82;MBQ=0,34;MFRL=0,0;MMQ=60,41;MPOS=27;POPAF=7.3;TLOD=57.79;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,16:0.935:16:0,6:0,7:0,13:0,0,7,9 -chr2 130229803 . G C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|8%2C9;DP=17;ECNT=8;GERMQ=87;MBQ=0,33;MFRL=0,0;MMQ=60,34;MPOS=40;POPAF=7.3;TLOD=60.39;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,17:0.923:17:0,1:0,8:0,11:0,0,8,9 -chr2 130229817 . C G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|11%2C11;DP=22;ECNT=8;GERMQ=93;MBQ=0,32;MFRL=0,0;MMQ=60,40;MPOS=30;POPAF=7.3;TLOD=78.38;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,22:0.947:22:0,6:0,11:0,17:0,0,11,11 -chr2 130229817 . C G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C1|10%2C11;DP=22;ECNT=8;GERMQ=81;MBQ=34,32;MFRL=0,0;MMQ=34,36;MPOS=17;POPAF=7.3;TLOD=73.65;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,21:0.867:22:0,1:0,10:1,12:0,1,10,11 -chr2 130229920 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|12%2C11;DP=27;ECNT=1;GERMQ=93;MBQ=0,32;MFRL=0,0;MMQ=60,40;MPOS=99;POPAF=7.3;TLOD=79.42;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,23:0.945:23:0,3:0,12:0,15:0,0,12,11 -chr2 130229920 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|15%2C13;DP=28;ECNT=2;GERMQ=93;MBQ=0,32;MFRL=0,0;MMQ=60,36;MPOS=103;POPAF=7.3;TLOD=99.17;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,28:0.95:28:0,3:0,15:0,18:0,0,15,13 -chr2 130230633 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C5;DP=8;ECNT=5;GERMQ=59;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=17;POPAF=7.3;TLOD=26.65;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.874:8:0,2:0,3:0,6:0,0,3,5 -chr2 130230633 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C3;DP=7;ECNT=4;GERMQ=57;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=16;POPAF=7.3;TLOD=26.18;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,7:0.857:7:0,1:0,4:0,5:0,0,4,3 -chr2 130230668 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|7%2C8;DP=15;ECNT=5;GERMQ=79;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=40;POPAF=7.3;TLOD=53.27;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,15:0.923:15:0,4:0,7:0,11:0,0,7,8 -chr2 130230668 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|6%2C6;DP=12;ECNT=4;GERMQ=72;MBQ=0,34;MFRL=0,0;MMQ=60,41;MPOS=39;POPAF=7.3;TLOD=42.91;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,12:0.9:12:0,2:0,6:0,8:0,0,6,6 -chr2 130230679 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|7%2C8;DP=15;ECNT=5;GERMQ=79;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=51;POPAF=7.3;TLOD=46.42;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,15:0.922:15:0,2:0,7:0,11:0,0,7,8 -chr2 130230679 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|6%2C6;DP=12;ECNT=4;GERMQ=72;MBQ=0,33;MFRL=0,0;MMQ=60,41;MPOS=50;POPAF=7.3;TLOD=42.41;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,12:0.9:12:0,2:0,6:0,8:0,0,6,6 -chr2 130230727 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|7%2C8;DP=15;ECNT=5;GERMQ=79;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=99;POPAF=7.3;TLOD=52.87;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,15:0.923:15:0,4:0,7:0,11:0,0,7,8 -chr2 130230727 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|6%2C6;DP=12;ECNT=4;GERMQ=72;MBQ=0,32;MFRL=0,0;MMQ=60,41;MPOS=98;POPAF=7.3;TLOD=42.06;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,12:0.9:12:0,2:0,6:0,8:0,0,6,6 -chr2 130230790 . A G . clustered_events;map_qual;strand_bias;weak_evidence AS_FilterStatus=weak_evidence,map_qual,strand_bias;AS_SB_TABLE=0%2C0|2%2C1;DP=7;ECNT=5;GERMQ=44;MBQ=0,31;MFRL=0,0;MMQ=60,29;MPOS=142;POPAF=7.3;TLOD=8.82;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.825:3:0,0:0,2:0,3:0,0,2,1 -chr2 130230924 . A G . map_qual;weak_evidence AS_FilterStatus=weak_evidence,map_qual;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=2;GERMQ=41;MBQ=0,33;MFRL=0,0;MMQ=60,21;MPOS=32;POPAF=7.3;TLOD=4.85;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr2 130230924 . A G . map_qual;strand_bias;weak_evidence AS_FilterStatus=weak_evidence,map_qual,strand_bias;AS_SB_TABLE=0%2C0|3%2C0;DP=3;ECNT=2;GERMQ=45;MBQ=0,32;MFRL=0,0;MMQ=60,21;MPOS=37;POPAF=7.3;TLOD=8.02;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.8:3:0,0:0,3:0,3:0,0,3,0 -chr2 130231008 . C T . map_qual;weak_evidence AS_FilterStatus=weak_evidence,map_qual;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=2;GERMQ=41;MBQ=0,33;MFRL=0,0;MMQ=60,21;MPOS=116;POPAF=7.3;TLOD=4.85;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr2 130231008 . C T . map_qual;strand_bias;weak_evidence AS_FilterStatus=weak_evidence,map_qual,strand_bias;AS_SB_TABLE=0%2C0|3%2C0;DP=3;ECNT=2;GERMQ=45;MBQ=0,25;MFRL=0,0;MMQ=60,21;MPOS=121;POPAF=7.3;TLOD=5.81;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.796:3:0,0:0,2:0,3:0,0,3,0 -chr2 130231176 . C G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C5;DP=10;ECNT=6;GERMQ=59;MBQ=0,32;MFRL=0,0;MMQ=60,33;MPOS=6;POPAF=7.3;TLOD=26.98;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.864:8:0,2:0,3:0,5:0,0,3,5 -chr2 130231176 . C G . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|2%2C3;DP=5;ECNT=5;GERMQ=51;MBQ=0,33;MFRL=0,0;MMQ=60,29;MPOS=15;POPAF=7.3;TLOD=14.57;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.8:5:0,1:0,2:0,3:0,0,2,3 -chr2 130231189 . T G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|5%2C7;DP=13;ECNT=6;GERMQ=70;MBQ=0,32;MFRL=0,0;MMQ=60,37;MPOS=15;POPAF=7.3;TLOD=41.57;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,12:0.893:12:0,2:0,5:0,7:0,0,5,7 -chr2 130231189 . T G . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|2%2C3;DP=8;ECNT=5;GERMQ=51;MBQ=0,32;MFRL=0,0;MMQ=60,29;MPOS=28;POPAF=7.3;TLOD=14.8;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.819:5:0,1:0,2:0,3:0,0,2,3 -chr2 130231202 . C A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|6%2C10;DP=16;ECNT=6;GERMQ=82;MBQ=0,32;MFRL=0,0;MMQ=60,37;MPOS=26;POPAF=7.3;TLOD=56.65;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,16:0.917:16:0,4:0,6:0,10:0,0,6,10 -chr2 130231202 . C A . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|3%2C5;DP=8;ECNT=5;GERMQ=60;MBQ=0,32;MFRL=0,0;MMQ=60,25;MPOS=32;POPAF=7.3;TLOD=23.27;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.857:8:0,1:0,3:0,5:0,0,3,5 -chr2 130231206 . C T . clustered_events;map_qual;strand_bias;weak_evidence AS_FilterStatus=weak_evidence,map_qual,strand_bias;AS_SB_TABLE=5%2C8|1%2C2;DP=16;ECNT=6;GERMQ=34;MBQ=33,31;MFRL=0,0;MMQ=40,29;MPOS=31;POPAF=7.3;TLOD=7.54;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:13,3:0.25:16:3,1:4,1:8,2:5,8,1,2 -chr2 130231240 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|6%2C10;DP=16;ECNT=6;GERMQ=82;MBQ=0,33;MFRL=0,0;MMQ=60,37;MPOS=64;POPAF=7.3;TLOD=54.65;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,16:0.917:16:0,4:0,6:0,10:0,0,6,10 -chr2 130231240 . A G . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|4%2C5;DP=9;ECNT=5;GERMQ=63;MBQ=0,34;MFRL=0,0;MMQ=60,21;MPOS=70;POPAF=7.3;TLOD=26.23;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,9:0.875:9:0,2:0,4:0,6:0,0,4,5 -chr2 130231320 . G A . clustered_events;strand_bias;weak_evidence AS_FilterStatus=weak_evidence,strand_bias;AS_SB_TABLE=0%2C0|1%2C3;DP=7;ECNT=6;GERMQ=47;MBQ=0,32;MFRL=0,0;MMQ=60,40;MPOS=125;POPAF=7.3;TLOD=11.62;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.819:4:0,2:0,1:0,3:0,0,1,3 -chr2 130231320 . G A . clustered_events;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=0%2C0|0%2C0;DP=4;ECNT=5;GERMQ=43;MBQ=0,34;MFRL=0,0;MMQ=60,40;MPOS=113;POPAF=7.3;TLOD=5.72;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.764:2:0,1:0,1:0,2:0,0,1,1 -chr2 131442793 . T C . clustered_events;haplotype;strand_bias AS_FilterStatus=strand_bias;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=6;GERMQ=44;MBQ=0,34;MFRL=0,0;MMQ=60,49;MPOS=78;POPAF=7.3;TLOD=13.02;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.75:3:0,1:0,1:0,2:0|1:131442793_T_C:131442793:0,0,1,2 -chr2 131442793 . T C . clustered_events;haplotype;map_qual;strand_bias AS_FilterStatus=map_qual,strand_bias;AS_SB_TABLE=0%2C0|2%2C1;DP=3;ECNT=6;GERMQ=45;MBQ=0,33;MFRL=0,0;MMQ=60,23;MPOS=63;POPAF=7.3;TLOD=13.02;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.75:3:0,0:0,2:0,2:0|1:131442793_T_C:131442793:0,0,2,1 -chr2 131442797 . C G . clustered_events;haplotype;strand_bias AS_FilterStatus=strand_bias;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=6;GERMQ=44;MBQ=0,34;MFRL=0,0;MMQ=60,49;MPOS=74;POPAF=7.3;TLOD=13.02;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.75:3:0,1:0,1:0,2:0|1:131442793_T_C:131442793:0,0,1,2 -chr2 131442797 . C G . clustered_events;haplotype;map_qual;strand_bias AS_FilterStatus=map_qual,strand_bias;AS_SB_TABLE=0%2C0|2%2C1;DP=3;ECNT=6;GERMQ=45;MBQ=0,32;MFRL=0,0;MMQ=60,23;MPOS=59;POPAF=7.3;TLOD=13.02;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.75:3:0,0:0,2:0,2:0|1:131442793_T_C:131442793:0,0,2,1 -chr2 131442810 . C T . clustered_events;haplotype;strand_bias AS_FilterStatus=strand_bias;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=6;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,49;MPOS=61;POPAF=7.3;TLOD=13.02;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.75:3:0,1:0,1:0,2:0|1:131442793_T_C:131442793:0,0,1,2 -chr2 131442810 . C T . clustered_events;haplotype;map_qual;strand_bias AS_FilterStatus=map_qual,strand_bias;AS_SB_TABLE=0%2C0|2%2C1;DP=3;ECNT=6;GERMQ=45;MBQ=0,33;MFRL=0,0;MMQ=60,23;MPOS=46;POPAF=7.3;TLOD=13.02;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.75:3:0,0:0,2:0,2:0|1:131442793_T_C:131442793:0,0,2,1 -chr2 131442829 . C T . clustered_events;haplotype;strand_bias AS_FilterStatus=strand_bias;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=6;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,49;MPOS=42;POPAF=7.3;TLOD=13.02;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.75:3:0,1:0,1:0,2:0|1:131442793_T_C:131442793:0,0,1,2 -chr2 131442829 . C T . clustered_events;haplotype;map_qual;strand_bias AS_FilterStatus=map_qual,strand_bias;AS_SB_TABLE=0%2C0|2%2C1;DP=3;ECNT=6;GERMQ=45;MBQ=0,33;MFRL=0,0;MMQ=60,23;MPOS=27;POPAF=7.3;TLOD=13.02;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.75:3:0,0:0,2:0,2:0|1:131442793_T_C:131442793:0,0,2,1 -chr2 131442842 . T C . clustered_events;haplotype;strand_bias AS_FilterStatus=strand_bias;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=6;GERMQ=44;MBQ=0,34;MFRL=0,0;MMQ=60,49;MPOS=29;POPAF=7.3;TLOD=13.02;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.75:3:0,1:0,1:0,2:0|1:131442793_T_C:131442793:0,0,1,2 -chr2 131442842 . T C . clustered_events;haplotype;map_qual;strand_bias AS_FilterStatus=map_qual,strand_bias;AS_SB_TABLE=0%2C0|2%2C1;DP=3;ECNT=6;GERMQ=45;MBQ=0,33;MFRL=0,0;MMQ=60,23;MPOS=14;POPAF=7.3;TLOD=13.02;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.75:3:0,0:0,2:0,2:0|1:131442793_T_C:131442793:0,0,2,1 -chr2 131442846 . A G . clustered_events;haplotype;strand_bias AS_FilterStatus=strand_bias;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=6;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,49;MPOS=25;POPAF=7.3;TLOD=13.02;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.75:3:0,1:0,1:0,2:0|1:131442793_T_C:131442793:0,0,1,2 -chr2 131442846 . A G . clustered_events;haplotype;map_qual;strand_bias AS_FilterStatus=map_qual,strand_bias;AS_SB_TABLE=0%2C0|2%2C1;DP=3;ECNT=6;GERMQ=45;MBQ=0,32;MFRL=0,0;MMQ=60,23;MPOS=10;POPAF=7.3;TLOD=13.02;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.75:3:0,0:0,2:0,2:0|1:131442793_T_C:131442793:0,0,2,1 -chr2 131443009 . A G . clustered_events;map_qual;strand_bias;weak_evidence AS_FilterStatus=weak_evidence,map_qual,strand_bias;AS_SB_TABLE=0%2C0|3%2C1;DP=5;ECNT=9;GERMQ=47;MBQ=0,32;MFRL=0,0;MMQ=60,28;MPOS=125;POPAF=7.3;TLOD=12.41;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.833:4:0,1:0,3:0,4:0,0,3,1 -chr2 131443009 . A G . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|3%2C3;DP=7;ECNT=9;GERMQ=54;MBQ=0,33;MFRL=0,0;MMQ=60,28;MPOS=128;POPAF=7.3;TLOD=18.28;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.857:6:0,2:0,3:0,5:0,0,3,3 -chr2 131443024 . A G . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|3%2C3;DP=9;ECNT=9;GERMQ=53;MBQ=0,34;MFRL=0,0;MMQ=60,28;MPOS=110;POPAF=7.3;TLOD=19.15;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.864:6:0,2:0,3:0,5:0,0,3,3 -chr2 131443024 . A G . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|3%2C4;DP=8;ECNT=9;GERMQ=57;MBQ=0,32;MFRL=0,0;MMQ=60,28;MPOS=114;POPAF=7.3;TLOD=21.83;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,7:0.863:7:0,2:0,3:0,5:0,0,3,4 -chr2 131443048 . G A . clustered_events;strand_bias;weak_evidence AS_FilterStatus=weak_evidence,strand_bias;AS_SB_TABLE=2%2C5|1%2C1;DP=9;ECNT=9;GERMQ=27;MBQ=33,33;MFRL=0,0;MMQ=29,38;MPOS=106;POPAF=7.3;TLOD=5.33;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,2:0.25:9:3,0:2,1:5,1:2,5,1,1 -chr2 131443048 . G A . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=1%2C2|3%2C4;DP=10;ECNT=9;GERMQ=28;MBQ=34,33;MFRL=0,0;MMQ=26,28;MPOS=106;POPAF=7.3;TLOD=21.69;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,7:0.556:10:2,1:1,3:3,4:1,2,3,4 -chr2 131443052 . G T . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|3%2C6;DP=9;ECNT=9;GERMQ=62;MBQ=0,33;MFRL=0,0;MMQ=60,29;MPOS=105;POPAF=7.3;TLOD=32.74;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,9:0.875:9:0,3:0,3:0,6:0,0,3,6 -chr2 131443052 . G T . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|4%2C6;DP=10;ECNT=9;GERMQ=66;MBQ=0,33;MFRL=0,0;MMQ=60,28;MPOS=97;POPAF=7.3;TLOD=39.72;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,10:0.889:10:0,3:0,4:0,7:0,0,4,6 -chr2 131443065 . A C . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|3%2C6;DP=9;ECNT=9;GERMQ=62;MBQ=0,32;MFRL=0,0;MMQ=60,29;MPOS=92;POPAF=7.3;TLOD=30.67;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,9:0.875:9:0,3:0,3:0,6:0,0,3,6 -chr2 131443065 . A C . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|4%2C6;DP=10;ECNT=9;GERMQ=66;MBQ=0,32;MFRL=0,0;MMQ=60,28;MPOS=84;POPAF=7.3;TLOD=32.36;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,10:0.889:10:0,3:0,4:0,7:0,0,4,6 -chr2 131443078 . G C . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|3%2C6;DP=9;ECNT=9;GERMQ=62;MBQ=0,35;MFRL=0,0;MMQ=60,29;MPOS=79;POPAF=7.3;TLOD=31.1;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,9:0.875:9:0,3:0,3:0,6:0,0,3,6 -chr2 131443078 . G C . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|4%2C6;DP=10;ECNT=9;GERMQ=66;MBQ=0,34;MFRL=0,0;MMQ=60,28;MPOS=71;POPAF=7.3;TLOD=32.26;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,10:0.889:10:0,3:0,4:0,7:0,0,4,6 -chr2 131443100 . G C . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|3%2C6;DP=9;ECNT=9;GERMQ=62;MBQ=0,34;MFRL=0,0;MMQ=60,29;MPOS=57;POPAF=7.3;TLOD=31.07;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,9:0.875:9:0,3:0,3:0,6:0,0,3,6 -chr2 131443100 . G C . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|4%2C6;DP=10;ECNT=9;GERMQ=66;MBQ=0,34;MFRL=0,0;MMQ=60,28;MPOS=49;POPAF=7.3;TLOD=32.66;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,10:0.889:10:0,3:0,4:0,7:0,0,4,6 -chr2 131443144 . G A . clustered_events;haplotype;strand_bias AS_FilterStatus=strand_bias;AS_SB_TABLE=0%2C0|0%2C5;DP=5;ECNT=9;GERMQ=50;MBQ=0,32;MFRL=0,0;MMQ=60,32;MPOS=28;POPAF=7.3;TLOD=21.72;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,5:0.857:5:0,2:0,0:0,5:0|1:131443144_G_A:131443144:0,0,0,5 -chr2 131443144 . G A . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C3;DP=6;ECNT=9;GERMQ=51;MBQ=0,33;MFRL=0,0;MMQ=60,31;MPOS=33;POPAF=7.3;TLOD=21.86;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,5:0.811:5:0,1:0,2:0,3:0|1:131443144_G_A:131443144:0,0,2,3 -chr2 131443146 . T G . clustered_events;haplotype;strand_bias AS_FilterStatus=strand_bias;AS_SB_TABLE=0%2C0|0%2C5;DP=5;ECNT=9;GERMQ=50;MBQ=0,35;MFRL=0,0;MMQ=60,32;MPOS=26;POPAF=7.3;TLOD=21.72;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,5:0.857:5:0,2:0,0:0,5:0|1:131443144_G_A:131443144:0,0,0,5 -chr2 131443146 . T G . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C3;DP=6;ECNT=9;GERMQ=51;MBQ=0,35;MFRL=0,0;MMQ=60,31;MPOS=31;POPAF=7.3;TLOD=21.86;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,5:0.811:5:0,1:0,2:0,3:0|1:131443144_G_A:131443144:0,0,2,3 -chr2 131443797 . C G . clustered_events;haplotype;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=4;GERMQ=41;MBQ=0,33;MFRL=0,0;MMQ=60,47;MPOS=132;POPAF=7.3;TLOD=8.7;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,2:0.667:2:0,0:0,1:0,1:0|1:131443797_C_G:131443797:0,0,1,1 -chr2 131443797 . C G . clustered_events;haplotype;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=4;GERMQ=43;MBQ=0,33;MFRL=0,0;MMQ=60,58;MPOS=137;POPAF=7.3;TLOD=8.7;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,2:0.667:2:0,0:0,1:0,1:0|1:131443797_C_G:131443797:0,0,1,1 -chr2 131443801 . G A . clustered_events;haplotype;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=4;GERMQ=41;MBQ=0,33;MFRL=0,0;MMQ=60,47;MPOS=128;POPAF=7.3;TLOD=8.7;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,2:0.667:2:0,0:0,1:0,1:0|1:131443797_C_G:131443797:0,0,1,1 -chr2 131443801 . G A . clustered_events;haplotype;strand_bias;weak_evidence AS_FilterStatus=weak_evidence,strand_bias;AS_SB_TABLE=0%2C0|2%2C1;DP=3;ECNT=4;GERMQ=45;MBQ=0,23;MFRL=0,0;MMQ=60,58;MPOS=133;POPAF=7.3;TLOD=12.1;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.75:3:0,0:0,0:0,2:0|1:131443797_C_G:131443797:0,0,2,1 -chr2 131443807 . G A . clustered_events;haplotype;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=0%2C0|0%2C0;DP=4;ECNT=4;GERMQ=41;MBQ=0,33;MFRL=0,0;MMQ=60,47;MPOS=122;POPAF=7.3;TLOD=8.63;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,2:0.684:2:0,0:0,1:0,1:0|1:131443797_C_G:131443797:0,0,1,1 -chr2 131443807 . G A . clustered_events;haplotype;strand_bias;weak_evidence AS_FilterStatus=weak_evidence,strand_bias;AS_SB_TABLE=0%2C0|2%2C1;DP=3;ECNT=4;GERMQ=45;MBQ=0,31;MFRL=0,0;MMQ=60,58;MPOS=127;POPAF=7.3;TLOD=12.1;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.75:3:0,0:0,2:0,2:0|1:131443797_C_G:131443797:0,0,2,1 -chr2 131443869 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C3;DP=7;ECNT=4;GERMQ=56;MBQ=0,32;MFRL=0,0;MMQ=60,47;MPOS=60;POPAF=7.3;TLOD=21.83;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,7:0.833:7:0,0:0,4:0,4:0,0,4,3 -chr2 131443869 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C2;DP=6;ECNT=4;GERMQ=54;MBQ=0,32;MFRL=0,0;MMQ=60,40;MPOS=92;POPAF=7.3;TLOD=17.75;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.833:6:0,0:0,4:0,4:0,0,4,2 -chr2 131443961 . G A . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|9%2C6;DP=15;ECNT=4;GERMQ=79;MBQ=0,33;MFRL=0,0;MMQ=60,34;MPOS=76;POPAF=7.3;TLOD=66.5;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,15:0.909:15:0,0:0,9:0,9:0|1:131443961_G_A:131443961:0,0,9,6 -chr2 131443961 . G A . clustered_events;haplotype;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|4%2C3;DP=7;ECNT=6;GERMQ=57;MBQ=0,33;MFRL=0,0;MMQ=60,25;MPOS=104;POPAF=7.3;TLOD=30.8;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,7:0.833:7:0,0:0,4:0,4:0|1:131443961_G_A:131443961:0,0,4,3 -chr2 131443973 . T A . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|9%2C6;DP=15;ECNT=4;GERMQ=79;MBQ=0,33;MFRL=0,0;MMQ=60,34;MPOS=64;POPAF=7.3;TLOD=66.5;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,15:0.909:15:0,0:0,9:0,9:0|1:131443961_G_A:131443961:0,0,9,6 -chr2 131443973 . T A . clustered_events;haplotype;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|4%2C3;DP=7;ECNT=6;GERMQ=57;MBQ=0,33;MFRL=0,0;MMQ=60,25;MPOS=92;POPAF=7.3;TLOD=30.8;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,7:0.833:7:0,0:0,4:0,4:0|1:131443961_G_A:131443961:0,0,4,3 -chr2 131444000 . A G . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|7%2C5;DP=12;ECNT=4;GERMQ=70;MBQ=0,34;MFRL=0,0;MMQ=60,38;MPOS=51;POPAF=7.3;TLOD=53.1;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,12:0.889:12:0,0:0,7:0,7:0|1:131444000_A_G:131444000:0,0,7,5 -chr2 131444000 . A G . clustered_events;haplotype;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=6;GERMQ=48;MBQ=0,33;MFRL=0,0;MMQ=60,28;MPOS=72;POPAF=7.3;TLOD=17.52;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,4:0.75:4:0,0:0,2:0,2:0|1:131444000_A_G:131444000:0,0,2,2 -chr2 131444009 . A G . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|7%2C5;DP=12;ECNT=4;GERMQ=70;MBQ=0,34;MFRL=0,0;MMQ=60,38;MPOS=42;POPAF=7.3;TLOD=53.1;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,12:0.889:12:0,0:0,6:0,7:0|1:131444000_A_G:131444000:0,0,7,5 -chr2 131444009 . A G . clustered_events;haplotype;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=6;GERMQ=48;MBQ=0,35;MFRL=0,0;MMQ=60,28;MPOS=63;POPAF=7.3;TLOD=17.52;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,4:0.75:4:0,0:0,2:0,2:0|1:131444000_A_G:131444000:0,0,2,2 -chr2 131444045 . T C . clustered_events;haplotype;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=6;GERMQ=48;MBQ=0,34;MFRL=0,0;MMQ=60,28;MPOS=27;POPAF=7.3;TLOD=17.52;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,4:0.75:4:0,0:0,2:0,2:0|1:131444045_T_C:131444045:0,0,2,2 -chr2 131444062 . A G . clustered_events;haplotype;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=6;GERMQ=48;MBQ=0,32;MFRL=0,0;MMQ=60,28;MPOS=10;POPAF=7.3;TLOD=17.52;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,4:0.75:4:0,0:0,2:0,2:0|1:131444045_T_C:131444045:0,0,2,2 -chr2 131444195 . G A . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C4;DP=7;ECNT=7;GERMQ=57;MBQ=0,33;MFRL=0,0;MMQ=60,36;MPOS=127;POPAF=7.3;TLOD=29.13;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,7:0.875:7:0,3:0,3:0,6:0|1:131444195_G_A:131444195:0,0,3,4 -chr2 131444205 . G A . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C4;DP=8;ECNT=7;GERMQ=57;MBQ=0,33;MFRL=0,0;MMQ=60,36;MPOS=118;POPAF=7.3;TLOD=29.11;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,7:0.88:7:0,3:0,3:0,6:0|1:131444195_G_A:131444195:0,0,3,4 -chr2 131444240 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C4;DP=8;ECNT=7;GERMQ=60;MBQ=0,33;MFRL=0,0;MMQ=60,36;MPOS=84;POPAF=7.3;TLOD=28.31;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.889:8:0,3:0,4:0,7:0,0,4,4 -chr2 131444261 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C4;DP=8;ECNT=7;GERMQ=60;MBQ=0,33;MFRL=0,0;MMQ=60,36;MPOS=63;POPAF=7.3;TLOD=28.41;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.889:8:0,3:0,4:0,7:0,0,4,4 -chr2 131444289 . C G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C4;DP=8;ECNT=7;GERMQ=60;MBQ=0,33;MFRL=0,0;MMQ=60,36;MPOS=35;POPAF=7.3;TLOD=26.91;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.889:8:0,3:0,4:0,7:0,0,4,4 -chr2 131444331 . T C . clustered_events;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=7;GERMQ=43;MBQ=0,33;MFRL=0,0;MMQ=60,43;MPOS=19;POPAF=7.3;TLOD=6.28;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.75:2:0,0:0,1:0,2:0,0,1,1 -chr2 131444492 . C T . clustered_events;haplotype;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=5;GERMQ=40;MBQ=0,33;MFRL=0,0;MMQ=60,49;MPOS=99;POPAF=7.3;TLOD=4.2;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,0:0,1:0,1:0|1:131444492_C_T:131444492:0,0,1,0 -chr2 131444495 . C T . clustered_events;haplotype;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=5;GERMQ=40;MBQ=0,33;MFRL=0,0;MMQ=60,49;MPOS=96;POPAF=7.3;TLOD=4.2;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,0:0,1:0,1:0|1:131444492_C_T:131444492:0,0,1,0 -chr2 131444513 . A C . clustered_events;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=5;GERMQ=40;MBQ=0,34;MFRL=0,0;MMQ=60,49;MPOS=78;POPAF=7.3;TLOD=3.58;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr2 131444551 . T G . clustered_events;haplotype;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=5;GERMQ=40;MBQ=0,34;MFRL=0,0;MMQ=60,49;MPOS=40;POPAF=7.3;TLOD=4.2;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,0:0,1:0,1:0|1:131444551_T_G:131444551:0,0,1,0 -chr2 131444559 . T C . clustered_events;haplotype;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=5;GERMQ=40;MBQ=0,31;MFRL=0,0;MMQ=60,49;MPOS=32;POPAF=7.3;TLOD=4.2;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,0:0,1:0,1:0|1:131444551_T_G:131444551:0,0,1,0 -chr8 213370 . C G . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=3;GERMQ=1;MBQ=0,35;MFRL=0,0;MMQ=60,22;MPOS=73;POPAF=7.3;TLOD=5.05;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr8 213370 . C G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=3;GERMQ=1;MBQ=0,35;MFRL=0,0;MMQ=60,34;MPOS=71;POPAF=7.3;TLOD=13.7;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr8 213387 . C T . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=3;GERMQ=1;MBQ=0,33;MFRL=0,0;MMQ=60,22;MPOS=56;POPAF=7.3;TLOD=5.05;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr8 213387 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=3;GERMQ=1;MBQ=0,33;MFRL=0,0;MMQ=60,34;MPOS=54;POPAF=7.3;TLOD=13.7;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr8 213438 . C T . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=3;GERMQ=1;MBQ=0,32;MFRL=0,0;MMQ=60,22;MPOS=5;POPAF=7.3;TLOD=5.05;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr8 213438 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=3;GERMQ=1;MBQ=0,31;MFRL=0,0;MMQ=60,34;MPOS=3;POPAF=7.3;TLOD=10.57;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chrMT 6640 . T C . map_qual;weak_evidence AS_FilterStatus=weak_evidence,map_qual;AS_SB_TABLE=1%2C1|1%2C1;DP=4;ECNT=1;GERMQ=40;MBQ=23,33;MFRL=0,0;MMQ=30,27;MPOS=13;POPAF=7.3;TLOD=5.57;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.5:4:0,0:1,1:1,1:1,1,1,1 -chrMT 9634 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C3|1%2C1;DP=12;ECNT=1;GERMQ=47;MBQ=30,32;MFRL=0,0;MMQ=40,38;MPOS=4;POPAF=7.3;TLOD=5.99;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,2:0.326:8:0,0:3,1:3,1:3,3,1,1 -chrMT 9732 . C T . clustered_events;strand_bias;weak_evidence AS_FilterStatus=weak_evidence,strand_bias;AS_SB_TABLE=18%2C18|1%2C1;DP=38;ECNT=6;GERMQ=93;MBQ=34,33;MFRL=0,0;MMQ=42,46;MPOS=89;POPAF=7.3;TLOD=4.97;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:36,2:0.095:38:0,0:18,1:18,1:18,18,1,1 -chrMT 9756 . T C . clustered_events;strand_bias;weak_evidence AS_FilterStatus=weak_evidence,strand_bias;AS_SB_TABLE=18%2C18|1%2C1;DP=38;ECNT=6;GERMQ=93;MBQ=33,32;MFRL=0,0;MMQ=42,36;MPOS=20;POPAF=7.3;TLOD=4.67;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:36,2:0.095:38:0,0:18,1:18,1:18,18,1,1 -chrMT 9765 . A G . clustered_events;strand_bias;weak_evidence AS_FilterStatus=weak_evidence,strand_bias;AS_SB_TABLE=18%2C18|1%2C1;DP=38;ECNT=6;GERMQ=93;MBQ=33,34;MFRL=0,0;MMQ=42,30;MPOS=129;POPAF=7.3;TLOD=4.37;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:36,2:0.095:38:0,0:18,1:18,1:18,18,1,1 -chrMT 9766 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=17%2C14|1%2C1;DP=33;ECNT=4;GERMQ=39;MBQ=34,33;MFRL=0,0;MMQ=41,36;MPOS=131;POPAF=7.3;TLOD=4.92;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:31,2:0.1:33:0,0:16,1:17,1:17,14,1,1 -chrMT 9771 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=16%2C13|1%2C1;DP=33;ECNT=4;GERMQ=34;MBQ=33,32;MFRL=0,0;MMQ=41,38;MPOS=121;POPAF=7.3;TLOD=4.86;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:29,2:0.104:31:0,0:16,1:16,1:16,13,1,1 -chrMT 9771 . T C . clustered_events;strand_bias;weak_evidence AS_FilterStatus=weak_evidence,strand_bias;AS_SB_TABLE=18%2C18|1%2C1;DP=38;ECNT=6;GERMQ=93;MBQ=33,34;MFRL=0,0;MMQ=42,40;MPOS=101;POPAF=7.3;TLOD=5.07;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:36,2:0.095:38:0,0:18,1:18,1:18,18,1,1 -chrMT 9773 . C T . clustered_events;strand_bias;weak_evidence AS_FilterStatus=weak_evidence,strand_bias;AS_SB_TABLE=18%2C18|1%2C1;DP=38;ECNT=6;GERMQ=93;MBQ=32,33;MFRL=0,0;MMQ=42,60;MPOS=125;POPAF=7.3;TLOD=4.97;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:36,2:0.095:38:0,0:18,1:18,1:18,18,1,1 -chrMT 9774 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=9%2C7|6%2C6;DP=31;ECNT=4;GERMQ=1;MBQ=32,33;MFRL=0,0;MMQ=42,41;MPOS=137;POPAF=7.3;TLOD=39.89;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:16,12:0.411:28:0,0:9,6:9,6:9,7,6,6 -chrMT 9774 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=12%2C12|2%2C2;DP=38;ECNT=6;GERMQ=73;MBQ=31,33;MFRL=0,0;MMQ=44,41;MPOS=140;POPAF=7.3;TLOD=11.01;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:24,4:0.183:28:0,0:11,2:12,2:12,12,2,2 -chrMT 9780 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C1|1%2C1;DP=15;ECNT=4;GERMQ=1;MBQ=31,21;MFRL=0,0;MMQ=33,54;MPOS=141;POPAF=7.3;TLOD=3.34;SRC=custom;GRP=custom GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,2:0.5:3:0,0:0,0:1,1:0,1,1,1 diff --git a/.tests/integration/custom-test/results/custom-test/hla/mhc-I.tsv b/.tests/integration/custom-test/results/custom-test/hla/mhc-I.tsv deleted file mode 100644 index 83364df..0000000 --- a/.tests/integration/custom-test/results/custom-test/hla/mhc-I.tsv +++ /dev/null @@ -1,3 +0,0 @@ -custom HLA-A*02:01 -custom HLA-A*68:01 -custom HLA-B*15:07 diff --git a/.tests/integration/custom-test/results/custom-test/variants/custom.vcf.gz b/.tests/integration/custom-test/results/custom-test/variants/custom.vcf.gz deleted file mode 100644 index 25661ee..0000000 Binary files a/.tests/integration/custom-test/results/custom-test/variants/custom.vcf.gz and /dev/null differ diff --git a/.tests/integration/custom-test/results/custom-test/variants/custom.vcf.gz.tbi b/.tests/integration/custom-test/results/custom-test/variants/custom.vcf.gz.tbi deleted file mode 100644 index aeec4df..0000000 Binary files a/.tests/integration/custom-test/results/custom-test/variants/custom.vcf.gz.tbi and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/annotation/long.indels.html b/.tests/integration/indel-test/results/indel-test_SE/annotation/long.indels.html deleted file mode 100644 index adf247c..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/annotation/long.indels.html +++ /dev/null @@ -1,195 +0,0 @@ - - - VEP summary - - - - - - - - -
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- Ensembl -
- -
- VEP -
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Links

VEP run statistics

VEP version (API) 109 (109)
Annotation sourcesCache: resources/vep/cache/homo_sapiens/111_GRCh38
Specieshomo_sapiens
Command line options
--assembly GRCh38 --cache  --cache_version 111 --dir_cache resources/vep/cache --dir_plugins resources/vep/plugins --everything --fasta resources/refs/genome.fasta --fork 4 --format vcf --offline --output_file STDOUT --plugin NMD, --plugin Wildtype, --plugin Downstream, --species homo_sapiens --stats_file results/indel-test_SE/annotation/long.indels.html --vcf
Start time2024-05-18 03:35:46
End time2024-05-18 03:35:46
Run time0 seconds
Input fileSTDIN
Output fileSTDOUT

General statistics

Lines of input read0
Variants processed0
Variants filtered out0
Novel / existing variants-
Overlapped genes0
Overlapped transcripts0
Overlapped regulatory features0

Variant classes

 
 

Consequences (most severe)

 
 

Consequences (all)

 
 

Coding consequences

 
 

SIFT summary

 
 

PolyPhen summary

 
 
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- diff --git a/.tests/integration/indel-test/results/indel-test_SE/annotation/long.indels.vcf b/.tests/integration/indel-test/results/indel-test_SE/annotation/long.indels.vcf deleted file mode 100644 index 6f769d2..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/annotation/long.indels.vcf +++ /dev/null @@ -1,55 +0,0 @@ -##fileformat=VCFv4.1 -##FILTER= -##source=transIndel v2.0 -##ALT= -##ALT= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##FORMAT= -##INFO= -##INFO= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##bcftools_viewVersion=1.9+htslib-1.9 -##bcftools_viewCommand=view -O z -o results/indel-test_SE/rnaseq/indel/transindel/s001_long.indels.vcf.gz; Date=Sat May 18 03:30:14 2024 -##bcftools_viewVersion=1.16+htslib-1.20 -##bcftools_viewCommand=view results/indel-test_SE/variants/long.indels.vcf.gz; Date=Sat May 18 03:35:41 2024 -##VEP="v109" time="2024-05-18 03:35:46" cache="resources/vep/cache/homo_sapiens/111_GRCh38" ensembl-funcgen=109.cba2db8 ensembl=109.10baaec ensembl-io=109.4946a86 ensembl-variation=109.18a12b6 1000genomes="phase3" COSMIC="98" ClinVar="202306" HGMD-PUBLIC="20204" assembly="GRCh38.p14" dbSNP="156" gencode="GENCODE 45" genebuild="2014-07" gnomADe="r2.1.1" gnomADg="v3.1.2" polyphen="2.2.3" regbuild="1.0" sift="6.2.1" -##INFO= -##NMD=Nonsense-mediated mRNA decay escaping variants prediction -##WildtypeProtein=The normal, non-mutated protein sequence -##DownstreamProtein=Predicted downstream translation for frameshift mutations -##ProteinLengthChange=Predicted change in protein product length -##VEP-command-line='vep --assembly GRCh38 --cache --cache_version 111 --database 0 --dir_cache [PATH]/cache --dir_plugins [PATH]/plugins --everything --fasta [PATH]/genome.fasta --fork 4 --format vcf --offline --output_file STDOUT --plugin NMD, --plugin Wildtype, --plugin Downstream, --vcf' -##bcftools_viewCommand=view -Ov; Date=Sat May 18 03:35:46 2024 -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT results/indel-test_SE/rnaseq/indel/transindel/s001_call diff --git a/.tests/integration/indel-test/results/indel-test_SE/annotation/somatic.short.indels.html b/.tests/integration/indel-test/results/indel-test_SE/annotation/somatic.short.indels.html deleted file mode 100644 index 06d9d8b..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/annotation/somatic.short.indels.html +++ /dev/null @@ -1,206 +0,0 @@ - - - VEP summary - - - - - - - - -
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VEP run statistics

VEP version (API) 109 (109)
Annotation sourcesCache: resources/vep/cache/homo_sapiens/111_GRCh38
Specieshomo_sapiens
Command line options
--assembly GRCh38 --cache  --cache_version 111 --dir_cache resources/vep/cache --dir_plugins resources/vep/plugins --everything --fasta resources/refs/genome.fasta --fork 4 --format vcf --offline --output_file STDOUT --plugin NMD, --plugin Wildtype, --plugin Downstream, --species homo_sapiens --stats_file results/indel-test_SE/annotation/somatic.short.indels.html --vcf
Start time2024-05-18 04:41:29
End time2024-05-18 04:41:31
Run time2 seconds
Input fileSTDIN
Output fileSTDOUT

General statistics

Lines of input read49
Variants processed49
Variants filtered out0
Novel / existing variants15 (30.6) / 34 (69.4)
Overlapped genes38
Overlapped transcripts174
Overlapped regulatory features19

Variant classes

 
 

Consequences (most severe)

 
 

Consequences (all)

 
 

Coding consequences

 
 

SIFT summary

 
 

PolyPhen summary

 
 

Variants by chromosome

 
 

Distribution of variants on chromosome chr1

 

Position in protein

 
-
- diff --git a/.tests/integration/indel-test/results/indel-test_SE/annotation/somatic.short.indels.vcf b/.tests/integration/indel-test/results/indel-test_SE/annotation/somatic.short.indels.vcf deleted file mode 100644 index 482162a..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/annotation/somatic.short.indels.vcf +++ /dev/null @@ -1,164 +0,0 @@ -##fileformat=VCFv4.2 -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##GATKCommandLine= -##GATKCommandLine= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##MutectVersion=2.2 -##bcftools_concatCommand=concat -O z -a -o results/indel-test_SE/rnaseq/indel/mutect2/s001_variants.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr21_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr11_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr9_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr6_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr3_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr12_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr10_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrMT_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr13_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr8_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr14_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr5_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr2_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr22_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr19_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr20_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr17_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr18_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr16_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr7_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr4_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrX_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr1_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrY_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr15_flt.vcf.gz; Date=Sat May 18 04:41:18 2024 -##bcftools_concatVersion=1.9+htslib-1.9 -##bcftools_viewCommand=view -O z -o results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr21_flt.vcf.gz; Date=Sat May 18 04:20:51 2024 -##bcftools_viewVersion=1.9+htslib-1.9 -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##filtering_status=These calls have been filtered by FilterMutectCalls to label false positives with a list of failed filters and true positives with PASS. -##reference=file:///projects/b1171/sej9799/ScanNeo2_test/ScanNeo2/resources/refs/genome.fasta -##source=FilterMutectCalls -##source=SelectVariants -##tumor_sample=unknown -##INFO= -##INFO= -##bcftools_viewCommand=view -O z -o results/indel-test_SE/rnaseq/indel/mutect2/s001_somatic.short.indels.vcf.gz; Date=Sat May 18 04:41:26 2024 -##bcftools_viewVersion=1.16+htslib-1.20 -##bcftools_viewCommand=view results/indel-test_SE/variants/somatic.short.indels.vcf.gz; Date=Sat May 18 04:41:28 2024 -##VEP="v109" time="2024-05-18 04:41:29" cache="resources/vep/cache/homo_sapiens/111_GRCh38" ensembl-io=109.4946a86 ensembl=109.10baaec ensembl-funcgen=109.cba2db8 ensembl-variation=109.18a12b6 1000genomes="phase3" COSMIC="98" ClinVar="202306" HGMD-PUBLIC="20204" assembly="GRCh38.p14" dbSNP="156" gencode="GENCODE 45" genebuild="2014-07" gnomADe="r2.1.1" gnomADg="v3.1.2" polyphen="2.2.3" regbuild="1.0" sift="6.2.1" -##INFO= -##NMD=Nonsense-mediated mRNA decay escaping variants prediction -##WildtypeProtein=The normal, non-mutated protein sequence -##DownstreamProtein=Predicted downstream translation for frameshift mutations -##ProteinLengthChange=Predicted change in protein product length -##VEP-command-line='vep --assembly GRCh38 --cache --cache_version 111 --database 0 --dir_cache [PATH]/cache --dir_plugins [PATH]/plugins --everything --fasta [PATH]/genome.fasta --fork 4 --format vcf --offline --output_file STDOUT --plugin NMD, --plugin Wildtype, --plugin Downstream, --vcf' -##bcftools_viewCommand=view -Ov; Date=Sat May 18 04:41:29 2024 -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT unknown -chr1 778034 . GAA G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C1;DP=5;ECNT=3;GERMQ=25;MBQ=34,34;MFRL=0,0;MMQ=56,60;MPOS=31;POPAF=7.3;RPA=7,5;RU=A;STR;STRQ=93;TLOD=7.55;SRC=short_indel;GRP=s001;CSQ=-|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000412115|lncRNA||||||||||rs1244103505|711|1||deletion|HGNC|HGNC:50701|YES|||3|||||||||||||||||||||||||||||6.576e-06|0|0|0|0|0|0|0|1.47e-05|0|0|1.47e-05|gnomADg_NFE|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000228327|Transcript|ENST00000428504|transcribed_unprocessed_pseudogene||||||||||rs1244103505|3755|-1||deletion|||YES||||||||||||||||||||||||||||||||6.576e-06|0|0|0|0|0|0|0|1.47e-05|0|0|1.47e-05|gnomADg_NFE|||||||||||||,-|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000429505|lncRNA||||||||||rs1244103505|724|1||deletion|HGNC|HGNC:50701||||3|||||||||||||||||||||||||||||6.576e-06|0|0|0|0|0|0|0|1.47e-05|0|0|1.47e-05|gnomADg_NFE|||||||||||||,-|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000434264|lncRNA||||||||||rs1244103505|734|1||deletion|HGNC|HGNC:50701||||5|||||||||||||||||||||||||||||6.576e-06|0|0|0|0|0|0|0|1.47e-05|0|0|1.47e-05|gnomADg_NFE|||||||||||||,-|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000443772|lncRNA||||||||||rs1244103505|936|1||deletion|HGNC|HGNC:50701||||3|||||||||||||||||||||||||||||6.576e-06|0|0|0|0|0|0|0|1.47e-05|0|0|1.47e-05|gnomADg_NFE|||||||||||||,-|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000457084|lncRNA||||||||||rs1244103505|746|1||deletion|HGNC|HGNC:50701||||4|||||||||||||||||||||||||||||6.576e-06|0|0|0|0|0|0|0|1.47e-05|0|0|1.47e-05|gnomADg_NFE|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000291215|Transcript|ENST00000506640|lncRNA||1/15|ENST00000506640.3:n.380+248_380+249del|||||||rs1244103505||-1||deletion|||YES|||5|||||||||||||||||||||||||||||6.576e-06|0|0|0|0|0|0|0|1.47e-05|0|0|1.47e-05|gnomADg_NFE|||||||||||||,-|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000589899|lncRNA||||||||||rs1244103505|894|1||deletion|HGNC|HGNC:50701||||5|||||||||||||||||||||||||||||6.576e-06|0|0|0|0|0|0|0|1.47e-05|0|0|1.47e-05|gnomADg_NFE|||||||||||||,-|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000609830|lncRNA||||||||||rs1244103505|901|1||deletion|HGNC|HGNC:50701||||5|||||||||||||||||||||||||||||6.576e-06|0|0|0|0|0|0|0|1.47e-05|0|0|1.47e-05|gnomADg_NFE|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+49634_127+49635del|||||||rs1244103505||-1||deletion|||YES|||5|||||||||||||||||||||||||||||6.576e-06|0|0|0|0|0|0|0|1.47e-05|0|0|1.47e-05|gnomADg_NFE|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+49634_100+49635del|||||||rs1244103505||-1||deletion||||||5|||||||||||||||||||||||||||||6.576e-06|0|0|0|0|0|0|0|1.47e-05|0|0|1.47e-05|gnomADg_NFE|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000285268|Transcript|ENST00000644482|transcribed_processed_pseudogene||||||||||rs1244103505|3901|1||deletion|||YES||||||||||||||||||||||||||||||||6.576e-06|0|0|0|0|0|0|0|1.47e-05|0|0|1.47e-05|gnomADg_NFE|||||||||||||,-|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000651411|lncRNA||||||||||rs1244103505|813|1||deletion|HGNC|HGNC:50701|||||||||||||||||||||||||||||||||6.576e-06|0|0|0|0|0|0|0|1.47e-05|0|0|1.47e-05|gnomADg_NFE|||||||||||||,-|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000655765|lncRNA||||||||||rs1244103505|711|1||deletion|HGNC|HGNC:50701|||||||||||||||||||||||||||||||||6.576e-06|0|0|0|0|0|0|0|1.47e-05|0|0|1.47e-05|gnomADg_NFE|||||||||||||,-|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000656571|lncRNA||||||||||rs1244103505|766|1||deletion|HGNC|HGNC:50701|||||||||||||||||||||||||||||||||6.576e-06|0|0|0|0|0|0|0|1.47e-05|0|0|1.47e-05|gnomADg_NFE|||||||||||||,-|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000657896|lncRNA||||||||||rs1244103505|724|1||deletion|HGNC|HGNC:50701|||||||||||||||||||||||||||||||||6.576e-06|0|0|0|0|0|0|0|1.47e-05|0|0|1.47e-05|gnomADg_NFE|||||||||||||,-|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000658648|lncRNA||||||||||rs1244103505|760|1||deletion|HGNC|HGNC:50701|||||||||||||||||||||||||||||||||6.576e-06|0|0|0|0|0|0|0|1.47e-05|0|0|1.47e-05|gnomADg_NFE|||||||||||||,-|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000665719|lncRNA||||||||||rs1244103505|776|1||deletion|HGNC|HGNC:50701|||||||||||||||||||||||||||||||||6.576e-06|0|0|0|0|0|0|0|1.47e-05|0|0|1.47e-05|gnomADg_NFE|||||||||||||,-|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000665867|lncRNA||||||||||rs1244103505|773|1||deletion|HGNC|HGNC:50701|||||||||||||||||||||||||||||||||6.576e-06|0|0|0|0|0|0|0|1.47e-05|0|0|1.47e-05|gnomADg_NFE|||||||||||||,-|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000666217|lncRNA||||||||||rs1244103505|776|1||deletion|HGNC|HGNC:50701|||||||||||||||||||||||||||||||||6.576e-06|0|0|0|0|0|0|0|1.47e-05|0|0|1.47e-05|gnomADg_NFE|||||||||||||,-|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000669749|lncRNA||||||||||rs1244103505|773|1||deletion|HGNC|HGNC:50701|||||||||||||||||||||||||||||||||6.576e-06|0|0|0|0|0|0|0|1.47e-05|0|0|1.47e-05|gnomADg_NFE|||||||||||||,-|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000670700|lncRNA||||||||||rs1244103505|722|1||deletion|HGNC|HGNC:50701|||||||||||||||||||||||||||||||||6.576e-06|0|0|0|0|0|0|0|1.47e-05|0|0|1.47e-05|gnomADg_NFE|||||||||||||,-|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291215|Transcript|ENST00000692781|lncRNA|1/1||ENST00000692781.2:n.653_654del||653-654|||||rs1244103505||-1||deletion|||||||||||||||||||||||||||||||||||6.576e-06|0|0|0|0|0|0|0|1.47e-05|0|0|1.47e-05|gnomADg_NFE|||||||||||||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000081|promoter||||||||||rs1244103505||||deletion|||||||||||||||||||||||||||||||||||6.576e-06|0|0|0|0|0|0|0|1.47e-05|0|0|1.47e-05|gnomADg_NFE||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.501:4:0,0:1,1:1,1:1,1,1,1 -chr1 817233 . CA C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=3%2C5|1%2C1;DP=11;ECNT=4;GERMQ=35;MBQ=34,35;MFRL=0,0;MMQ=60,30;MPOS=76;POPAF=7.3;RPA=3,2;RU=A;STR;STRQ=93;TLOD=5.39;SRC=short_indel;GRP=s001;CSQ=-|upstream_gene_variant|MODIFIER|FAM87B|ENSG00000177757|Transcript|ENST00000326734|lncRNA|||||||||||137|1||deletion|HGNC|HGNC:32236|YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290784|Transcript|ENST00000447500|lncRNA||1/4|ENST00000447500.4:n.340+139del|||||||||-1||deletion|||YES|||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+10436del|||||||||-1||deletion|||YES|||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+10436del|||||||||-1||deletion||||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000085|promoter||||||||||||||deletion|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:8,2:0.222:10:0,0:3,1:6,1:3,5,1,1 -chr1 839183 . GA G . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=3%2C1|1%2C1;DP=6;ECNT=1;GERMQ=29;MBQ=33,33;MFRL=0,0;MMQ=22,21;MPOS=72;POPAF=7.3;RPA=7,6;RU=A;STR;STRQ=93;TLOD=4.93;SRC=short_indel;GRP=s001;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000415295|lncRNA||1/1|ENST00000415295.1:n.74-2010del|||||||rs1639066006||1||deletion|HGNC|HGNC:49377||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA||2/2|ENST00000416570.6:n.211+10086del|||||||rs1639066006||1||deletion|HGNC|HGNC:49377||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000441765|lncRNA||1/1|ENST00000441765.6:n.110-2010del|||||||rs1639066006||1||deletion|HGNC|HGNC:49377||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA||2/4|ENST00000445118.7:n.280+10086del|||||||rs1639066006||1||deletion|HGNC|HGNC:49377|YES|||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA||2/4|ENST00000448975.6:n.222-8464del|||||||rs1639066006||1||deletion|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA||2/4|ENST00000449005.7:n.220-8464del|||||||rs1639066006||1||deletion|HGNC|HGNC:49377||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA||2/7|ENST00000608189.6:n.225-8464del|||||||rs1639066006||1||deletion|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA||2/7|ENST00000609009.6:n.212-8464del|||||||rs1639066006||1||deletion|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA||2/5|ENST00000609139.7:n.212-2010del|||||||rs1639066006||1||deletion|HGNC|HGNC:49377||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000610067|lncRNA||2/3|ENST00000610067.7:n.271-8464del|||||||rs1639066006||1||deletion|HGNC|HGNC:49377||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA||2/2|ENST00000622921.1:n.135+10086del|||||||rs1639066006||1||deletion|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA||2/3|ENST00000623070.5:n.226+10086del|||||||rs1639066006||1||deletion|HGNC|HGNC:49377||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA||2/4|ENST00000623808.4:n.194+10086del|||||||rs1639066006||1||deletion|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||1/2|ENST00000624927.3:n.416-8464del|||||||rs1639066006||1||deletion|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA||2/5|ENST00000657175.1:n.147-8464del|||||||rs1639066006||1||deletion|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA||2/5|ENST00000657837.1:n.205+10086del|||||||rs1639066006||1||deletion|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA||2/4|ENST00000658846.2:n.244-8464del|||||||rs1639066006||1||deletion|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA||2/6|ENST00000659124.2:n.271-8464del|||||||rs1639066006||1||deletion|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000660797|lncRNA||2/2|ENST00000660797.1:n.416-2010del|||||||rs1639066006||1||deletion|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA||2/6|ENST00000661237.3:n.220-2010del|||||||rs1639066006||1||deletion|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA||2/7|ENST00000666741.2:n.244-8464del|||||||rs1639066006||1||deletion|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000667414|lncRNA||2/2|ENST00000667414.1:n.244-8464del|||||||rs1639066006||1||deletion|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000668541|lncRNA||2/2|ENST00000668541.1:n.186-2010del|||||||rs1639066006||1||deletion|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000669922|lncRNA||2/2|ENST00000669922.1:n.276-2010del|||||||rs1639066006||1||deletion|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA||2/7|ENST00000670780.1:n.275-2010del|||||||rs1639066006||1||deletion|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670824|lncRNA||1/1|ENST00000670824.1:n.101-2010del|||||||rs1639066006||1||deletion|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||1/3|ENST00000685334.1:n.71+12267del|||||||rs1639066006||1||deletion|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA||1/3|ENST00000685566.1:n.115+11415del|||||||rs1639066006||1||deletion|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA||2/5|ENST00000685764.2:n.235+10086del|||||||rs1639066006||1||deletion|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA||2/7|ENST00000686238.1:n.220-2010del|||||||rs1639066006||1||deletion|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA||2/6|ENST00000688008.2:n.242-8464del|||||||rs1639066006||1||deletion|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA||2/5|ENST00000688309.1:n.270+10086del|||||||rs1639066006||1||deletion|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688420|lncRNA||1/4|ENST00000688420.1:n.61+7513del|||||||rs1639066006||1||deletion|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA||2/6|ENST00000691234.2:n.179-8464del|||||||rs1639066006||1||deletion|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA||2/6|ENST00000691316.1:n.187-8464del|||||||rs1639066006||1||deletion|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA||2/5|ENST00000692194.1:n.186-8464del|||||||rs1639066006||1||deletion|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA||1/4|ENST00000701598.1:n.110-8464del|||||||rs1639066006||1||deletion|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA||2/6|ENST00000701768.1:n.206-8464del|||||||rs1639066006||1||deletion|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA||2/5|ENST00000702098.1:n.158-8464del|||||||rs1639066006||1||deletion|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA||2/4|ENST00000702273.1:n.176+10086del|||||||rs1639066006||1||deletion|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA||2/4|ENST00000702557.1:n.183+10086del|||||||rs1639066006||1||deletion|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA||2/5|ENST00000702847.1:n.186-8464del|||||||rs1639066006||1||deletion|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,2:0.333:6:0,0:3,1:3,1:3,1,1,1 -chr1 842922 . C CCT . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C4;DP=11;ECNT=1;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,31;MPOS=104;POPAF=7.3;RPA=2,3;RU=CT;STR;STRQ=93;TLOD=33.78;SRC=short_indel;GRP=s001;CSQ=CT|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000415295|lncRNA||||||||||rs58115377|902|1||insertion|HGNC|HGNC:49377||||1||||||||||||||0.9060|0.8495|0.9337|0.9147|0.9523|0.9059||||||||||0.9778|0.9266|1|0.9891|0.9977|0.9998|0.9999|0.9842|0.9982|0.9828|0.9998|1|gnomADg_AMI|||||||||||||,CT|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA||2/2|ENST00000416570.6:n.212-9002_212-9001dup|||||||rs58115377||1||insertion|HGNC|HGNC:49377||||3||||||||||||||0.9060|0.8495|0.9337|0.9147|0.9523|0.9059||||||||||0.9778|0.9266|1|0.9891|0.9977|0.9998|0.9999|0.9842|0.9982|0.9828|0.9998|1|gnomADg_AMI|||||||||||||,CT|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000441765|lncRNA||||||||||rs58115377|921|1||insertion|HGNC|HGNC:49377||||2||||||||||||||0.9060|0.8495|0.9337|0.9147|0.9523|0.9059||||||||||0.9778|0.9266|1|0.9891|0.9977|0.9998|0.9999|0.9842|0.9982|0.9828|0.9998|1|gnomADg_AMI|||||||||||||,CT|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA||2/4|ENST00000445118.7:n.281-9002_281-9001dup|||||||rs58115377||1||insertion|HGNC|HGNC:49377|YES|||1||||||||||||||0.9060|0.8495|0.9337|0.9147|0.9523|0.9059||||||||||0.9778|0.9266|1|0.9891|0.9977|0.9998|0.9999|0.9842|0.9982|0.9828|0.9998|1|gnomADg_AMI|||||||||||||,CT|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA||2/4|ENST00000448975.6:n.222-4729_222-4728dup|||||||rs58115377||1||insertion|HGNC|HGNC:49377||||5||||||||||||||0.9060|0.8495|0.9337|0.9147|0.9523|0.9059||||||||||0.9778|0.9266|1|0.9891|0.9977|0.9998|0.9999|0.9842|0.9982|0.9828|0.9998|1|gnomADg_AMI|||||||||||||,CT|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA||2/4|ENST00000449005.7:n.220-4729_220-4728dup|||||||rs58115377||1||insertion|HGNC|HGNC:49377||||1||||||||||||||0.9060|0.8495|0.9337|0.9147|0.9523|0.9059||||||||||0.9778|0.9266|1|0.9891|0.9977|0.9998|0.9999|0.9842|0.9982|0.9828|0.9998|1|gnomADg_AMI|||||||||||||,CT|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA||2/7|ENST00000608189.6:n.225-4729_225-4728dup|||||||rs58115377||1||insertion|HGNC|HGNC:49377||||5||||||||||||||0.9060|0.8495|0.9337|0.9147|0.9523|0.9059||||||||||0.9778|0.9266|1|0.9891|0.9977|0.9998|0.9999|0.9842|0.9982|0.9828|0.9998|1|gnomADg_AMI|||||||||||||,CT|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA||2/7|ENST00000609009.6:n.212-4729_212-4728dup|||||||rs58115377||1||insertion|HGNC|HGNC:49377||||5||||||||||||||0.9060|0.8495|0.9337|0.9147|0.9523|0.9059||||||||||0.9778|0.9266|1|0.9891|0.9977|0.9998|0.9999|0.9842|0.9982|0.9828|0.9998|1|gnomADg_AMI|||||||||||||,CT|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA||3/5|ENST00000609139.7:n.385+1552_385+1553dup|||||||rs58115377||1||insertion|HGNC|HGNC:49377||||3||||||||||||||0.9060|0.8495|0.9337|0.9147|0.9523|0.9059||||||||||0.9778|0.9266|1|0.9891|0.9977|0.9998|0.9999|0.9842|0.9982|0.9828|0.9998|1|gnomADg_AMI|||||||||||||,CT|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000610067|lncRNA||2/3|ENST00000610067.7:n.271-4729_271-4728dup|||||||rs58115377||1||insertion|HGNC|HGNC:49377||||4||||||||||||||0.9060|0.8495|0.9337|0.9147|0.9523|0.9059||||||||||0.9778|0.9266|1|0.9891|0.9977|0.9998|0.9999|0.9842|0.9982|0.9828|0.9998|1|gnomADg_AMI|||||||||||||,CT|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA||2/2|ENST00000622921.1:n.136-9002_136-9001dup|||||||rs58115377||1||insertion|HGNC|HGNC:49377||||5||||||||||||||0.9060|0.8495|0.9337|0.9147|0.9523|0.9059||||||||||0.9778|0.9266|1|0.9891|0.9977|0.9998|0.9999|0.9842|0.9982|0.9828|0.9998|1|gnomADg_AMI|||||||||||||,CT|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA||2/3|ENST00000623070.5:n.227-9002_227-9001dup|||||||rs58115377||1||insertion|HGNC|HGNC:49377||||4||||||||||||||0.9060|0.8495|0.9337|0.9147|0.9523|0.9059||||||||||0.9778|0.9266|1|0.9891|0.9977|0.9998|0.9999|0.9842|0.9982|0.9828|0.9998|1|gnomADg_AMI|||||||||||||,CT|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA||2/4|ENST00000623808.4:n.195-9002_195-9001dup|||||||rs58115377||1||insertion|HGNC|HGNC:49377||||5||||||||||||||0.9060|0.8495|0.9337|0.9147|0.9523|0.9059||||||||||0.9778|0.9266|1|0.9891|0.9977|0.9998|0.9999|0.9842|0.9982|0.9828|0.9998|1|gnomADg_AMI|||||||||||||,CT|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||1/2|ENST00000624927.3:n.416-4729_416-4728dup|||||||rs58115377||1||insertion|HGNC|HGNC:49377||||5||||||||||||||0.9060|0.8495|0.9337|0.9147|0.9523|0.9059||||||||||0.9778|0.9266|1|0.9891|0.9977|0.9998|0.9999|0.9842|0.9982|0.9828|0.9998|1|gnomADg_AMI|||||||||||||,CT|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA||2/5|ENST00000657175.1:n.147-4729_147-4728dup|||||||rs58115377||1||insertion|HGNC|HGNC:49377||||||||||||||||||0.9060|0.8495|0.9337|0.9147|0.9523|0.9059||||||||||0.9778|0.9266|1|0.9891|0.9977|0.9998|0.9999|0.9842|0.9982|0.9828|0.9998|1|gnomADg_AMI|||||||||||||,CT|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA||2/5|ENST00000657837.1:n.206-9002_206-9001dup|||||||rs58115377||1||insertion|HGNC|HGNC:49377||||||||||||||||||0.9060|0.8495|0.9337|0.9147|0.9523|0.9059||||||||||0.9778|0.9266|1|0.9891|0.9977|0.9998|0.9999|0.9842|0.9982|0.9828|0.9998|1|gnomADg_AMI|||||||||||||,CT|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA||2/4|ENST00000658846.2:n.244-4729_244-4728dup|||||||rs58115377||1||insertion|HGNC|HGNC:49377||||||||||||||||||0.9060|0.8495|0.9337|0.9147|0.9523|0.9059||||||||||0.9778|0.9266|1|0.9891|0.9977|0.9998|0.9999|0.9842|0.9982|0.9828|0.9998|1|gnomADg_AMI|||||||||||||,CT|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA||2/6|ENST00000659124.2:n.271-4729_271-4728dup|||||||rs58115377||1||insertion|HGNC|HGNC:49377||||||||||||||||||0.9060|0.8495|0.9337|0.9147|0.9523|0.9059||||||||||0.9778|0.9266|1|0.9891|0.9977|0.9998|0.9999|0.9842|0.9982|0.9828|0.9998|1|gnomADg_AMI|||||||||||||,CT|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000660797|lncRNA||||||||||rs58115377|923|1||insertion|HGNC|HGNC:49377||||||||||||||||||0.9060|0.8495|0.9337|0.9147|0.9523|0.9059||||||||||0.9778|0.9266|1|0.9891|0.9977|0.9998|0.9999|0.9842|0.9982|0.9828|0.9998|1|gnomADg_AMI|||||||||||||,CT|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA||3/6|ENST00000661237.3:n.393+1552_393+1553dup|||||||rs58115377||1||insertion|HGNC|HGNC:49377||||||||||||||||||0.9060|0.8495|0.9337|0.9147|0.9523|0.9059||||||||||0.9778|0.9266|1|0.9891|0.9977|0.9998|0.9999|0.9842|0.9982|0.9828|0.9998|1|gnomADg_AMI|||||||||||||,CT|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA||2/7|ENST00000666741.2:n.244-4729_244-4728dup|||||||rs58115377||1||insertion|HGNC|HGNC:49377||||||||||||||||||0.9060|0.8495|0.9337|0.9147|0.9523|0.9059||||||||||0.9778|0.9266|1|0.9891|0.9977|0.9998|0.9999|0.9842|0.9982|0.9828|0.9998|1|gnomADg_AMI|||||||||||||,CT|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000667414|lncRNA||2/2|ENST00000667414.1:n.244-4729_244-4728dup|||||||rs58115377||1||insertion|HGNC|HGNC:49377||||||||||||||||||0.9060|0.8495|0.9337|0.9147|0.9523|0.9059||||||||||0.9778|0.9266|1|0.9891|0.9977|0.9998|0.9999|0.9842|0.9982|0.9828|0.9998|1|gnomADg_AMI|||||||||||||,CT|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000668541|lncRNA||||||||||rs58115377|921|1||insertion|HGNC|HGNC:49377||||||||||||||||||0.9060|0.8495|0.9337|0.9147|0.9523|0.9059||||||||||0.9778|0.9266|1|0.9891|0.9977|0.9998|0.9999|0.9842|0.9982|0.9828|0.9998|1|gnomADg_AMI|||||||||||||,CT|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000669922|lncRNA|3/3||ENST00000669922.1:n.2001_2002dup||1998-1999|||||rs58115377||1||insertion|HGNC|HGNC:49377||||||||||||||||||0.9060|0.8495|0.9337|0.9147|0.9523|0.9059||||||||||0.9778|0.9266|1|0.9891|0.9977|0.9998|0.9999|0.9842|0.9982|0.9828|0.9998|1|gnomADg_AMI|||||||||||||,CT|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA|3/8||ENST00000670780.1:n.2000_2001dup||1997-1998|||||rs58115377||1||insertion|HGNC|HGNC:49377||||||||||||||||||0.9060|0.8495|0.9337|0.9147|0.9523|0.9059||||||||||0.9778|0.9266|1|0.9891|0.9977|0.9998|0.9999|0.9842|0.9982|0.9828|0.9998|1|gnomADg_AMI|||||||||||||,CT|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670824|lncRNA|2/2||ENST00000670824.1:n.1826_1827dup||1823-1824|||||rs58115377||1||insertion|HGNC|HGNC:49377||||||||||||||||||0.9060|0.8495|0.9337|0.9147|0.9523|0.9059||||||||||0.9778|0.9266|1|0.9891|0.9977|0.9998|0.9999|0.9842|0.9982|0.9828|0.9998|1|gnomADg_AMI|||||||||||||,CT|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||1/3|ENST00000685334.1:n.72-9002_72-9001dup|||||||rs58115377||1||insertion|HGNC|HGNC:49377||||||||||||||||||0.9060|0.8495|0.9337|0.9147|0.9523|0.9059||||||||||0.9778|0.9266|1|0.9891|0.9977|0.9998|0.9999|0.9842|0.9982|0.9828|0.9998|1|gnomADg_AMI|||||||||||||,CT|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA||1/3|ENST00000685566.1:n.116-9002_116-9001dup|||||||rs58115377||1||insertion|HGNC|HGNC:49377||||||||||||||||||0.9060|0.8495|0.9337|0.9147|0.9523|0.9059||||||||||0.9778|0.9266|1|0.9891|0.9977|0.9998|0.9999|0.9842|0.9982|0.9828|0.9998|1|gnomADg_AMI|||||||||||||,CT|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA||2/5|ENST00000685764.2:n.236-9002_236-9001dup|||||||rs58115377||1||insertion|HGNC|HGNC:49377||||||||||||||||||0.9060|0.8495|0.9337|0.9147|0.9523|0.9059||||||||||0.9778|0.9266|1|0.9891|0.9977|0.9998|0.9999|0.9842|0.9982|0.9828|0.9998|1|gnomADg_AMI|||||||||||||,CT|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA||3/7|ENST00000686238.1:n.393+1552_393+1553dup|||||||rs58115377||1||insertion|HGNC|HGNC:49377||||||||||||||||||0.9060|0.8495|0.9337|0.9147|0.9523|0.9059||||||||||0.9778|0.9266|1|0.9891|0.9977|0.9998|0.9999|0.9842|0.9982|0.9828|0.9998|1|gnomADg_AMI|||||||||||||,CT|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA||2/6|ENST00000688008.2:n.242-4729_242-4728dup|||||||rs58115377||1||insertion|HGNC|HGNC:49377||||||||||||||||||0.9060|0.8495|0.9337|0.9147|0.9523|0.9059||||||||||0.9778|0.9266|1|0.9891|0.9977|0.9998|0.9999|0.9842|0.9982|0.9828|0.9998|1|gnomADg_AMI|||||||||||||,CT|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA||2/5|ENST00000688309.1:n.271-9002_271-9001dup|||||||rs58115377||1||insertion|HGNC|HGNC:49377||||||||||||||||||0.9060|0.8495|0.9337|0.9147|0.9523|0.9059||||||||||0.9778|0.9266|1|0.9891|0.9977|0.9998|0.9999|0.9842|0.9982|0.9828|0.9998|1|gnomADg_AMI|||||||||||||,CT|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688420|lncRNA||1/4|ENST00000688420.1:n.62-4729_62-4728dup|||||||rs58115377||1||insertion|HGNC|HGNC:49377||||||||||||||||||0.9060|0.8495|0.9337|0.9147|0.9523|0.9059||||||||||0.9778|0.9266|1|0.9891|0.9977|0.9998|0.9999|0.9842|0.9982|0.9828|0.9998|1|gnomADg_AMI|||||||||||||,CT|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA||2/6|ENST00000691234.2:n.179-4729_179-4728dup|||||||rs58115377||1||insertion|HGNC|HGNC:49377||||||||||||||||||0.9060|0.8495|0.9337|0.9147|0.9523|0.9059||||||||||0.9778|0.9266|1|0.9891|0.9977|0.9998|0.9999|0.9842|0.9982|0.9828|0.9998|1|gnomADg_AMI|||||||||||||,CT|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA||2/6|ENST00000691316.1:n.187-4729_187-4728dup|||||||rs58115377||1||insertion|HGNC|HGNC:49377||||||||||||||||||0.9060|0.8495|0.9337|0.9147|0.9523|0.9059||||||||||0.9778|0.9266|1|0.9891|0.9977|0.9998|0.9999|0.9842|0.9982|0.9828|0.9998|1|gnomADg_AMI|||||||||||||,CT|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA||2/5|ENST00000692194.1:n.186-4729_186-4728dup|||||||rs58115377||1||insertion|HGNC|HGNC:49377||||||||||||||||||0.9060|0.8495|0.9337|0.9147|0.9523|0.9059||||||||||0.9778|0.9266|1|0.9891|0.9977|0.9998|0.9999|0.9842|0.9982|0.9828|0.9998|1|gnomADg_AMI|||||||||||||,CT|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA||1/4|ENST00000701598.1:n.110-4729_110-4728dup|||||||rs58115377||1||insertion|HGNC|HGNC:49377||||||||||||||||||0.9060|0.8495|0.9337|0.9147|0.9523|0.9059||||||||||0.9778|0.9266|1|0.9891|0.9977|0.9998|0.9999|0.9842|0.9982|0.9828|0.9998|1|gnomADg_AMI|||||||||||||,CT|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA||2/6|ENST00000701768.1:n.206-4729_206-4728dup|||||||rs58115377||1||insertion|HGNC|HGNC:49377||||||||||||||||||0.9060|0.8495|0.9337|0.9147|0.9523|0.9059||||||||||0.9778|0.9266|1|0.9891|0.9977|0.9998|0.9999|0.9842|0.9982|0.9828|0.9998|1|gnomADg_AMI|||||||||||||,CT|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA||2/5|ENST00000702098.1:n.158-4729_158-4728dup|||||||rs58115377||1||insertion|HGNC|HGNC:49377||||||||||||||||||0.9060|0.8495|0.9337|0.9147|0.9523|0.9059||||||||||0.9778|0.9266|1|0.9891|0.9977|0.9998|0.9999|0.9842|0.9982|0.9828|0.9998|1|gnomADg_AMI|||||||||||||,CT|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA||2/4|ENST00000702273.1:n.177-9002_177-9001dup|||||||rs58115377||1||insertion|HGNC|HGNC:49377||||||||||||||||||0.9060|0.8495|0.9337|0.9147|0.9523|0.9059||||||||||0.9778|0.9266|1|0.9891|0.9977|0.9998|0.9999|0.9842|0.9982|0.9828|0.9998|1|gnomADg_AMI|||||||||||||,CT|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA||2/4|ENST00000702557.1:n.184-9002_184-9001dup|||||||rs58115377||1||insertion|HGNC|HGNC:49377||||||||||||||||||0.9060|0.8495|0.9337|0.9147|0.9523|0.9059||||||||||0.9778|0.9266|1|0.9891|0.9977|0.9998|0.9999|0.9842|0.9982|0.9828|0.9998|1|gnomADg_AMI|||||||||||||,CT|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA||2/5|ENST00000702847.1:n.186-4729_186-4728dup|||||||rs58115377||1||insertion|HGNC|HGNC:49377||||||||||||||||||0.9060|0.8495|0.9337|0.9147|0.9523|0.9059||||||||||0.9778|0.9266|1|0.9891|0.9977|0.9998|0.9999|0.9842|0.9982|0.9828|0.9998|1|gnomADg_AMI|||||||||||||,CT|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918351|enhancer||||||||||rs58115377||||insertion||||||||||||||||||||0.9060|0.8495|0.9337|0.9147|0.9523|0.9059||||||||||0.9778|0.9266|1|0.9891|0.9977|0.9998|0.9999|0.9842|0.9982|0.9828|0.9998|1|gnomADg_AMI|||||||||||||,CT|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00526164813|||||||||||rs58115377||1||insertion||||||||||||||||||||0.9060|0.8495|0.9337|0.9147|0.9523|0.9059||||||||||0.9778|0.9266|1|0.9891|0.9977|0.9998|0.9999|0.9842|0.9982|0.9828|0.9998|1|gnomADg_AMI|||||ENSPFM0373|12|N||MEIS2::HOXA13&MEIS1::HOXA13&MEIS1::HOXB13|||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.884:8:0,1:0,4:0,6:0,0,4,4 -chr1 845626 . GT G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=7%2C7|1%2C1;DP=19;ECNT=1;GERMQ=47;MBQ=34,34;MFRL=0,0;MMQ=44,60;MPOS=79;POPAF=7.3;RPA=3,2;RU=T;STR;STRQ=93;TLOD=5.17;SRC=short_indel;GRP=s001;CSQ=-|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000415295|lncRNA|||||||||||3607|1||deletion|HGNC|HGNC:49377||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA||2/2|ENST00000416570.6:n.212-6298del|||||||||1||deletion|HGNC|HGNC:49377||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000441765|lncRNA|||||||||||3626|1||deletion|HGNC|HGNC:49377||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA||2/4|ENST00000445118.7:n.281-6298del|||||||||1||deletion|HGNC|HGNC:49377|YES|||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA||2/4|ENST00000448975.6:n.222-2025del|||||||||1||deletion|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA||2/4|ENST00000449005.7:n.220-2025del|||||||||1||deletion|HGNC|HGNC:49377||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA||2/7|ENST00000608189.6:n.225-2025del|||||||||1||deletion|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA||2/7|ENST00000609009.6:n.212-2025del|||||||||1||deletion|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA||3/5|ENST00000609139.7:n.385+4256del|||||||||1||deletion|HGNC|HGNC:49377||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000610067|lncRNA||2/3|ENST00000610067.7:n.271-2025del|||||||||1||deletion|HGNC|HGNC:49377||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA||2/2|ENST00000622921.1:n.136-6298del|||||||||1||deletion|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA||2/3|ENST00000623070.5:n.227-6298del|||||||||1||deletion|HGNC|HGNC:49377||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA||2/4|ENST00000623808.4:n.195-6298del|||||||||1||deletion|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||1/2|ENST00000624927.3:n.416-2025del|||||||||1||deletion|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA||2/5|ENST00000657175.1:n.147-2025del|||||||||1||deletion|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA||2/5|ENST00000657837.1:n.206-6298del|||||||||1||deletion|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA||2/4|ENST00000658846.2:n.244-2025del|||||||||1||deletion|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA||2/6|ENST00000659124.2:n.271-2025del|||||||||1||deletion|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000660797|lncRNA|||||||||||3628|1||deletion|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA||3/6|ENST00000661237.3:n.394-2025del|||||||||1||deletion|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA||2/7|ENST00000666741.2:n.244-2025del|||||||||1||deletion|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000667414|lncRNA||2/2|ENST00000667414.1:n.244-2025del|||||||||1||deletion|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000668541|lncRNA|||||||||||3626|1||deletion|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000669922|lncRNA|3/3||ENST00000669922.1:n.4705del||4703|||||||1||deletion|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA||3/7|ENST00000670780.1:n.3573+1131del|||||||||1||deletion|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670824|lncRNA|||||||||||2033|1||deletion|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||1/3|ENST00000685334.1:n.72-6298del|||||||||1||deletion|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA||1/3|ENST00000685566.1:n.116-6298del|||||||||1||deletion|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA||2/5|ENST00000685764.2:n.236-6298del|||||||||1||deletion|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA||3/7|ENST00000686238.1:n.394-2025del|||||||||1||deletion|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA||2/6|ENST00000688008.2:n.242-2025del|||||||||1||deletion|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA||2/5|ENST00000688309.1:n.271-6298del|||||||||1||deletion|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688420|lncRNA||1/4|ENST00000688420.1:n.62-2025del|||||||||1||deletion|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA||2/6|ENST00000691234.2:n.179-2025del|||||||||1||deletion|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA||2/6|ENST00000691316.1:n.187-2025del|||||||||1||deletion|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA||2/5|ENST00000692194.1:n.186-2025del|||||||||1||deletion|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA||1/4|ENST00000701598.1:n.110-2025del|||||||||1||deletion|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA||2/6|ENST00000701768.1:n.206-2025del|||||||||1||deletion|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA||2/5|ENST00000702098.1:n.158-2025del|||||||||1||deletion|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA||2/4|ENST00000702273.1:n.177-6298del|||||||||1||deletion|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA||2/4|ENST00000702557.1:n.184-6298del|||||||||1||deletion|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA||2/5|ENST00000702847.1:n.186-2025del|||||||||1||deletion|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918351|enhancer||||||||||||||deletion|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:14,2:0.18:16:0,0:7,1:8,1:7,7,1,1 -chr1 855378 . GTA G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C1;DP=4;ECNT=1;GERMQ=37;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=58;POPAF=7.3;TLOD=12.98;SRC=short_indel;GRP=s001;CSQ=-|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA||||||||||rs3039191|1283|1||deletion|HGNC|HGNC:49377||||3|||||||||||||||||||||||||||||0.6685|0.2615|0.7686|0.7245|0.8386|0.7325|0.8061|0.7834|0.8562|0.7188|0.7928|0.8562|gnomADg_NFE|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000425657|retained_intron||||||||||rs3039191|2627|1||deletion|HGNC|HGNC:49377||||3|||||||||||||||||||||||||||||0.6685|0.2615|0.7686|0.7245|0.8386|0.7325|0.8061|0.7834|0.8562|0.7188|0.7928|0.8562|gnomADg_NFE|||||||||||||,-|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA|5/5||ENST00000445118.7:n.2550_2551del||2549-2550|||||rs3039191||1||deletion|HGNC|HGNC:49377|YES|||1|||||||||||||||||||||||||||||0.6685|0.2615|0.7686|0.7245|0.8386|0.7325|0.8061|0.7834|0.8562|0.7188|0.7928|0.8562|gnomADg_NFE|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA||||||||||rs3039191|3365|1||deletion|HGNC|HGNC:49377||||5|||||||||||||||||||||||||||||0.6685|0.2615|0.7686|0.7245|0.8386|0.7325|0.8061|0.7834|0.8562|0.7188|0.7928|0.8562|gnomADg_NFE|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA||||||||||rs3039191|992|1||deletion|HGNC|HGNC:49377||||1|||||||||||||||||||||||||||||0.6685|0.2615|0.7686|0.7245|0.8386|0.7325|0.8061|0.7834|0.8562|0.7188|0.7928|0.8562|gnomADg_NFE|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA||||||||||rs3039191|1276|1||deletion|HGNC|HGNC:49377||||5|||||||||||||||||||||||||||||0.6685|0.2615|0.7686|0.7245|0.8386|0.7325|0.8061|0.7834|0.8562|0.7188|0.7928|0.8562|gnomADg_NFE|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA||||||||||rs3039191|994|1||deletion|HGNC|HGNC:49377||||5|||||||||||||||||||||||||||||0.6685|0.2615|0.7686|0.7245|0.8386|0.7325|0.8061|0.7834|0.8562|0.7188|0.7928|0.8562|gnomADg_NFE|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA||||||||||rs3039191|1278|1||deletion|HGNC|HGNC:49377||||3|||||||||||||||||||||||||||||0.6685|0.2615|0.7686|0.7245|0.8386|0.7325|0.8061|0.7834|0.8562|0.7188|0.7928|0.8562|gnomADg_NFE|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000610067|lncRNA||||||||||rs3039191|4254|1||deletion|HGNC|HGNC:49377||||4|||||||||||||||||||||||||||||0.6685|0.2615|0.7686|0.7245|0.8386|0.7325|0.8061|0.7834|0.8562|0.7188|0.7928|0.8562|gnomADg_NFE|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA||||||||||rs3039191|2864|1||deletion|HGNC|HGNC:49377||||5|||||||||||||||||||||||||||||0.6685|0.2615|0.7686|0.7245|0.8386|0.7325|0.8061|0.7834|0.8562|0.7188|0.7928|0.8562|gnomADg_NFE|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA||||||||||rs3039191|978|1||deletion|HGNC|HGNC:49377||||4|||||||||||||||||||||||||||||0.6685|0.2615|0.7686|0.7245|0.8386|0.7325|0.8061|0.7834|0.8562|0.7188|0.7928|0.8562|gnomADg_NFE|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA||||||||||rs3039191|983|1||deletion|HGNC|HGNC:49377||||5|||||||||||||||||||||||||||||0.6685|0.2615|0.7686|0.7245|0.8386|0.7325|0.8061|0.7834|0.8562|0.7188|0.7928|0.8562|gnomADg_NFE|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA||||||||||rs3039191|994|1||deletion|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6685|0.2615|0.7686|0.7245|0.8386|0.7325|0.8061|0.7834|0.8562|0.7188|0.7928|0.8562|gnomADg_NFE|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA||5/5|ENST00000657837.1:n.2135+244_2135+245del|||||||rs3039191||1||deletion|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6685|0.2615|0.7686|0.7245|0.8386|0.7325|0.8061|0.7834|0.8562|0.7188|0.7928|0.8562|gnomADg_NFE|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA||||||||||rs3039191|968|1||deletion|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6685|0.2615|0.7686|0.7245|0.8386|0.7325|0.8061|0.7834|0.8562|0.7188|0.7928|0.8562|gnomADg_NFE|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA||6/6|ENST00000659124.2:n.2449+244_2449+245del|||||||rs3039191||1||deletion|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6685|0.2615|0.7686|0.7245|0.8386|0.7325|0.8061|0.7834|0.8562|0.7188|0.7928|0.8562|gnomADg_NFE|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA||||||||||rs3039191|956|1||deletion|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6685|0.2615|0.7686|0.7245|0.8386|0.7325|0.8061|0.7834|0.8562|0.7188|0.7928|0.8562|gnomADg_NFE|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000288531|Transcript|ENST00000661463|lncRNA||||||||||rs3039191|4847|1||deletion|||YES||||||||||||||||||||||||||||||||0.6685|0.2615|0.7686|0.7245|0.8386|0.7325|0.8061|0.7834|0.8562|0.7188|0.7928|0.8562|gnomADg_NFE|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA||7/7|ENST00000666741.2:n.2526+259_2526+260del|||||||rs3039191||1||deletion|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6685|0.2615|0.7686|0.7245|0.8386|0.7325|0.8061|0.7834|0.8562|0.7188|0.7928|0.8562|gnomADg_NFE|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA||7/7|ENST00000670780.1:n.5752+244_5752+245del|||||||rs3039191||1||deletion|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6685|0.2615|0.7686|0.7245|0.8386|0.7325|0.8061|0.7834|0.8562|0.7188|0.7928|0.8562|gnomADg_NFE|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000288531|Transcript|ENST00000671208|lncRNA||||||||||rs3039191|4846|1||deletion|||||||||||||||||||||||||||||||||||0.6685|0.2615|0.7686|0.7245|0.8386|0.7325|0.8061|0.7834|0.8562|0.7188|0.7928|0.8562|gnomADg_NFE|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||||||||||rs3039191|994|1||deletion|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6685|0.2615|0.7686|0.7245|0.8386|0.7325|0.8061|0.7834|0.8562|0.7188|0.7928|0.8562|gnomADg_NFE|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA||||||||||rs3039191|983|1||deletion|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6685|0.2615|0.7686|0.7245|0.8386|0.7325|0.8061|0.7834|0.8562|0.7188|0.7928|0.8562|gnomADg_NFE|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA||5/5|ENST00000685764.2:n.2246+259_2246+260del|||||||rs3039191||1||deletion|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6685|0.2615|0.7686|0.7245|0.8386|0.7325|0.8061|0.7834|0.8562|0.7188|0.7928|0.8562|gnomADg_NFE|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA||||||||||rs3039191|985|1||deletion|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6685|0.2615|0.7686|0.7245|0.8386|0.7325|0.8061|0.7834|0.8562|0.7188|0.7928|0.8562|gnomADg_NFE|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA||||||||||rs3039191|981|1||deletion|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6685|0.2615|0.7686|0.7245|0.8386|0.7325|0.8061|0.7834|0.8562|0.7188|0.7928|0.8562|gnomADg_NFE|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA||5/5|ENST00000688309.1:n.2296+244_2296+245del|||||||rs3039191||1||deletion|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6685|0.2615|0.7686|0.7245|0.8386|0.7325|0.8061|0.7834|0.8562|0.7188|0.7928|0.8562|gnomADg_NFE|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688420|lncRNA||||||||||rs3039191|1283|1||deletion|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6685|0.2615|0.7686|0.7245|0.8386|0.7325|0.8061|0.7834|0.8562|0.7188|0.7928|0.8562|gnomADg_NFE|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA||6/6|ENST00000691234.2:n.2357+244_2357+245del|||||||rs3039191||1||deletion|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6685|0.2615|0.7686|0.7245|0.8386|0.7325|0.8061|0.7834|0.8562|0.7188|0.7928|0.8562|gnomADg_NFE|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA||6/6|ENST00000691316.1:n.2350+259_2350+260del|||||||rs3039191||1||deletion|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6685|0.2615|0.7686|0.7245|0.8386|0.7325|0.8061|0.7834|0.8562|0.7188|0.7928|0.8562|gnomADg_NFE|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA||||||||||rs3039191|968|1||deletion|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6685|0.2615|0.7686|0.7245|0.8386|0.7325|0.8061|0.7834|0.8562|0.7188|0.7928|0.8562|gnomADg_NFE|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA||||||||||rs3039191|1283|1||deletion|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6685|0.2615|0.7686|0.7245|0.8386|0.7325|0.8061|0.7834|0.8562|0.7188|0.7928|0.8562|gnomADg_NFE|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA||6/6|ENST00000701768.1:n.2407+244_2407+245del|||||||rs3039191||1||deletion|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6685|0.2615|0.7686|0.7245|0.8386|0.7325|0.8061|0.7834|0.8562|0.7188|0.7928|0.8562|gnomADg_NFE|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA||||||||||rs3039191|957|1||deletion|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6685|0.2615|0.7686|0.7245|0.8386|0.7325|0.8061|0.7834|0.8562|0.7188|0.7928|0.8562|gnomADg_NFE|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA||||||||||rs3039191|992|1||deletion|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6685|0.2615|0.7686|0.7245|0.8386|0.7325|0.8061|0.7834|0.8562|0.7188|0.7928|0.8562|gnomADg_NFE|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA||||||||||rs3039191|992|1||deletion|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6685|0.2615|0.7686|0.7245|0.8386|0.7325|0.8061|0.7834|0.8562|0.7188|0.7928|0.8562|gnomADg_NFE|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA||||||||||rs3039191|956|1||deletion|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6685|0.2615|0.7686|0.7245|0.8386|0.7325|0.8061|0.7834|0.8562|0.7188|0.7928|0.8562|gnomADg_NFE||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.765:3:0,0:0,2:0,2:0,0,2,1 -chr1 858135 . C CT . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=3%2C3|1%2C1;DP=8;ECNT=1;GERMQ=29;MBQ=32,34;MFRL=0,0;MMQ=28,27;MPOS=45;POPAF=7.3;RPA=7,8;RU=T;STR;STRQ=93;TLOD=4.78;SRC=short_indel;GRP=s001;CSQ=T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA|||||||||||4039|1||insertion|HGNC|HGNC:49377||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA|5/5||ENST00000445118.7:n.5312dup||5305-5306|||||||1||insertion|HGNC|HGNC:49377|YES|||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA|||||||||||3748|1||insertion|HGNC|HGNC:49377||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA|||||||||||4032|1||insertion|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA|||||||||||3750|1||insertion|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA|||||||||||4034|1||insertion|HGNC|HGNC:49377||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA|||||||||||3734|1||insertion|HGNC|HGNC:49377||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA|||||||||||3739|1||insertion|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA|||||||||||3750|1||insertion|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA|||||||||||889|1||insertion|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA|||||||||||3724|1||insertion|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA|7/7||ENST00000659124.2:n.4143dup||4136-4137|||||||1||insertion|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA|||||||||||3712|1||insertion|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000288531|Transcript|ENST00000661463|lncRNA|||||||||||2091|1||insertion|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA|8/8||ENST00000666741.2:n.4220dup||4213-4214|||||||1||insertion|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA|8/8||ENST00000670780.1:n.7446dup||7439-7440|||||||1||insertion|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000288531|Transcript|ENST00000671208|lncRNA|||||||||||2090|1||insertion||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA|||||||||||3750|1||insertion|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA|||||||||||3739|1||insertion|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA|||||||||||230|1||insertion|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA|||||||||||3741|1||insertion|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA|||||||||||3737|1||insertion|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA|||||||||||889|1||insertion|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688420|lncRNA|||||||||||4039|1||insertion|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA|||||||||||947|1||insertion|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA|||||||||||945|1||insertion|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA|||||||||||3724|1||insertion|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA|||||||||||4039|1||insertion|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA|||||||||||997|1||insertion|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA|||||||||||3713|1||insertion|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA|||||||||||3748|1||insertion|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA|||||||||||3748|1||insertion|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA|||||||||||3712|1||insertion|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000249794|CTCF_binding_site||||||||||||||insertion|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,2:0.333:8:1,0:2,1:3,1:3,3,1,1 -chr1 859166 . CTTA C . map_qual;slippage;weak_evidence AS_FilterStatus=weak_evidence,map_qual;AS_SB_TABLE=3%2C3|0%2C1;DP=7;ECNT=1;GERMQ=26;MBQ=34,34;MFRL=0,0;MMQ=29,22;MPOS=53;POPAF=7.3;RPA=3,2;RU=TTA;STR;STRQ=1;TLOD=3.03;SRC=short_indel;GRP=s001;CSQ=-|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA|5/5||ENST00000445118.7:n.6343_6345del||6337-6339|||||rs567883349||1||deletion|HGNC|HGNC:49377|YES|||1||||||||||||||0.0006|0.0008|0.0014|0|0|0.001||||||||||0.0003221|0.0005314|0|0.0005235|0.0002882|0.0007683|0|0|0.0001617|0|0.0006214|0.0014|AMR|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA||||||||||rs567883349|4780|1||deletion|HGNC|HGNC:49377||||1||||||||||||||0.0006|0.0008|0.0014|0|0|0.001||||||||||0.0003221|0.0005314|0|0.0005235|0.0002882|0.0007683|0|0|0.0001617|0|0.0006214|0.0014|AMR|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA||||||||||rs567883349|4782|1||deletion|HGNC|HGNC:49377||||5||||||||||||||0.0006|0.0008|0.0014|0|0|0.001||||||||||0.0003221|0.0005314|0|0.0005235|0.0002882|0.0007683|0|0|0.0001617|0|0.0006214|0.0014|AMR|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA||||||||||rs567883349|4766|1||deletion|HGNC|HGNC:49377||||4||||||||||||||0.0006|0.0008|0.0014|0|0|0.001||||||||||0.0003221|0.0005314|0|0.0005235|0.0002882|0.0007683|0|0|0.0001617|0|0.0006214|0.0014|AMR|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA||||||||||rs567883349|4771|1||deletion|HGNC|HGNC:49377||||5||||||||||||||0.0006|0.0008|0.0014|0|0|0.001||||||||||0.0003221|0.0005314|0|0.0005235|0.0002882|0.0007683|0|0|0.0001617|0|0.0006214|0.0014|AMR|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA||||||||||rs567883349|4782|1||deletion|HGNC|HGNC:49377||||||||||||||||||0.0006|0.0008|0.0014|0|0|0.001||||||||||0.0003221|0.0005314|0|0.0005235|0.0002882|0.0007683|0|0|0.0001617|0|0.0006214|0.0014|AMR|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA||||||||||rs567883349|1921|1||deletion|HGNC|HGNC:49377||||||||||||||||||0.0006|0.0008|0.0014|0|0|0.001||||||||||0.0003221|0.0005314|0|0.0005235|0.0002882|0.0007683|0|0|0.0001617|0|0.0006214|0.0014|AMR|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA||||||||||rs567883349|4756|1||deletion|HGNC|HGNC:49377||||||||||||||||||0.0006|0.0008|0.0014|0|0|0.001||||||||||0.0003221|0.0005314|0|0.0005235|0.0002882|0.0007683|0|0|0.0001617|0|0.0006214|0.0014|AMR|||||||||||||,-|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA|7/7||ENST00000659124.2:n.5174_5176del||5168-5170|||||rs567883349||1||deletion|HGNC|HGNC:49377||||||||||||||||||0.0006|0.0008|0.0014|0|0|0.001||||||||||0.0003221|0.0005314|0|0.0005235|0.0002882|0.0007683|0|0|0.0001617|0|0.0006214|0.0014|AMR|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA||||||||||rs567883349|4744|1||deletion|HGNC|HGNC:49377||||||||||||||||||0.0006|0.0008|0.0014|0|0|0.001||||||||||0.0003221|0.0005314|0|0.0005235|0.0002882|0.0007683|0|0|0.0001617|0|0.0006214|0.0014|AMR|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000288531|Transcript|ENST00000661463|lncRNA||||||||||rs567883349|1058|1||deletion|||YES|||||||||||||||||0.0006|0.0008|0.0014|0|0|0.001||||||||||0.0003221|0.0005314|0|0.0005235|0.0002882|0.0007683|0|0|0.0001617|0|0.0006214|0.0014|AMR|||||||||||||,-|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA|8/8||ENST00000666741.2:n.5251_5253del||5245-5247|||||rs567883349||1||deletion|HGNC|HGNC:49377||||||||||||||||||0.0006|0.0008|0.0014|0|0|0.001||||||||||0.0003221|0.0005314|0|0.0005235|0.0002882|0.0007683|0|0|0.0001617|0|0.0006214|0.0014|AMR|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA||||||||||rs567883349|82|1||deletion|HGNC|HGNC:49377||||||||||||||||||0.0006|0.0008|0.0014|0|0|0.001||||||||||0.0003221|0.0005314|0|0.0005235|0.0002882|0.0007683|0|0|0.0001617|0|0.0006214|0.0014|AMR|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000288531|Transcript|ENST00000671208|lncRNA||||||||||rs567883349|1057|1||deletion||||||||||||||||||||0.0006|0.0008|0.0014|0|0|0.001||||||||||0.0003221|0.0005314|0|0.0005235|0.0002882|0.0007683|0|0|0.0001617|0|0.0006214|0.0014|AMR|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||||||||||rs567883349|4782|1||deletion|HGNC|HGNC:49377||||||||||||||||||0.0006|0.0008|0.0014|0|0|0.001||||||||||0.0003221|0.0005314|0|0.0005235|0.0002882|0.0007683|0|0|0.0001617|0|0.0006214|0.0014|AMR|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA||||||||||rs567883349|4771|1||deletion|HGNC|HGNC:49377||||||||||||||||||0.0006|0.0008|0.0014|0|0|0.001||||||||||0.0003221|0.0005314|0|0.0005235|0.0002882|0.0007683|0|0|0.0001617|0|0.0006214|0.0014|AMR|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA||||||||||rs567883349|1262|1||deletion|HGNC|HGNC:49377||||||||||||||||||0.0006|0.0008|0.0014|0|0|0.001||||||||||0.0003221|0.0005314|0|0.0005235|0.0002882|0.0007683|0|0|0.0001617|0|0.0006214|0.0014|AMR|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA||||||||||rs567883349|4773|1||deletion|HGNC|HGNC:49377||||||||||||||||||0.0006|0.0008|0.0014|0|0|0.001||||||||||0.0003221|0.0005314|0|0.0005235|0.0002882|0.0007683|0|0|0.0001617|0|0.0006214|0.0014|AMR|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA||||||||||rs567883349|4769|1||deletion|HGNC|HGNC:49377||||||||||||||||||0.0006|0.0008|0.0014|0|0|0.001||||||||||0.0003221|0.0005314|0|0.0005235|0.0002882|0.0007683|0|0|0.0001617|0|0.0006214|0.0014|AMR|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA||||||||||rs567883349|1921|1||deletion|HGNC|HGNC:49377||||||||||||||||||0.0006|0.0008|0.0014|0|0|0.001||||||||||0.0003221|0.0005314|0|0.0005235|0.0002882|0.0007683|0|0|0.0001617|0|0.0006214|0.0014|AMR|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA||||||||||rs567883349|1979|1||deletion|HGNC|HGNC:49377||||||||||||||||||0.0006|0.0008|0.0014|0|0|0.001||||||||||0.0003221|0.0005314|0|0.0005235|0.0002882|0.0007683|0|0|0.0001617|0|0.0006214|0.0014|AMR|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA||||||||||rs567883349|1977|1||deletion|HGNC|HGNC:49377||||||||||||||||||0.0006|0.0008|0.0014|0|0|0.001||||||||||0.0003221|0.0005314|0|0.0005235|0.0002882|0.0007683|0|0|0.0001617|0|0.0006214|0.0014|AMR|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA||||||||||rs567883349|4756|1||deletion|HGNC|HGNC:49377||||||||||||||||||0.0006|0.0008|0.0014|0|0|0.001||||||||||0.0003221|0.0005314|0|0.0005235|0.0002882|0.0007683|0|0|0.0001617|0|0.0006214|0.0014|AMR|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA||||||||||rs567883349|2029|1||deletion|HGNC|HGNC:49377||||||||||||||||||0.0006|0.0008|0.0014|0|0|0.001||||||||||0.0003221|0.0005314|0|0.0005235|0.0002882|0.0007683|0|0|0.0001617|0|0.0006214|0.0014|AMR|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA||||||||||rs567883349|4745|1||deletion|HGNC|HGNC:49377||||||||||||||||||0.0006|0.0008|0.0014|0|0|0.001||||||||||0.0003221|0.0005314|0|0.0005235|0.0002882|0.0007683|0|0|0.0001617|0|0.0006214|0.0014|AMR|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA||||||||||rs567883349|4780|1||deletion|HGNC|HGNC:49377||||||||||||||||||0.0006|0.0008|0.0014|0|0|0.001||||||||||0.0003221|0.0005314|0|0.0005235|0.0002882|0.0007683|0|0|0.0001617|0|0.0006214|0.0014|AMR|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA||||||||||rs567883349|4780|1||deletion|HGNC|HGNC:49377||||||||||||||||||0.0006|0.0008|0.0014|0|0|0.001||||||||||0.0003221|0.0005314|0|0.0005235|0.0002882|0.0007683|0|0|0.0001617|0|0.0006214|0.0014|AMR|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA||||||||||rs567883349|4744|1||deletion|HGNC|HGNC:49377||||||||||||||||||0.0006|0.0008|0.0014|0|0|0.001||||||||||0.0003221|0.0005314|0|0.0005235|0.0002882|0.0007683|0|0|0.0001617|0|0.0006214|0.0014|AMR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,1:0.286:7:0,0:3,0:4,1:3,3,0,1 -chr1 902949 . G GC . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=2;GERMQ=33;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=110;POPAF=7.3;RPA=4,5;RU=C;STR;STRQ=93;TLOD=6.22;SRC=short_indel;GRP=s001;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||||||||||rs144685080|1884|1||insertion|||YES|||4||||||||||||||0.1723|0.0779|0.2061|0.1736|0.2087|0.2372||||||||||0.1764|0.09037|0.2681|0.1964|0.2673|0.1489|0.2493|0.1994|0.2061|0.185|0.2156|0.2681|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 906014 . GC G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4%2C6|1%2C1;DP=13;ECNT=1;GERMQ=39;MBQ=33,30;MFRL=0,0;MMQ=60,60;MPOS=89;POPAF=7.3;RPA=3,2;RU=C;STR;STRQ=93;TLOD=4.61;SRC=short_indel;GRP=s001;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.124+1060del|||||||||1||deletion|||YES|||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000100|promoter||||||||||||||deletion|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:10,2:0.2:12:0,0:3,1:7,1:4,6,1,1 -chr1 907236 . TAAA T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=4;ECNT=1;GERMQ=26;MBQ=0,23;MFRL=0,0;MMQ=60,60;MPOS=71;POPAF=7.3;RPA=14,11;RU=A;STR;STRQ=93;TLOD=7.69;SRC=short_indel;GRP=s001;CSQ=-|upstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA|||||||||||4196|1||deletion|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.124+2291_124+2293del|||||||||1||deletion|||YES|||4|||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.686:2:0,0:0,1:0,1:0,0,1,1 -chr1 910940 . C CT . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=6%2C2|1%2C1;DP=10;ECNT=5;GERMQ=32;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=93;POPAF=7.3;RPA=4,5;RU=T;STR;STRQ=93;TLOD=4.82;SRC=short_indel;GRP=s001;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA|||||||||||3230|1||insertion|||YES|||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA|||||||||||494|1||insertion|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.125-4806dup|||||||||1||insertion|||YES|||4|||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:8,2:0.222:10:0,0:6,1:6,1:6,2,1,1 -chr1 911220 . CT C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|6%2C6;DP=12;ECNT=2;GERMQ=65;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=26;POPAF=7.3;RPA=2,1;RU=T;STR;STRQ=93;TLOD=45.63;SRC=short_indel;GRP=s001;CSQ=-|upstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs35331099|2950|1||deletion|||YES|||3||||||||||||||0.7508|0.7716|0.7363|0.5913|0.7992|0.8476||||||||||0.7872|0.7799|0.8377|0.7461|0.8257|0.6262|0.7542|0.7373|0.8121|0.788|0.8394|0.8476|SAS|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs35331099|214|1||deletion|||YES|||2||||||||||||||0.7508|0.7716|0.7363|0.5913|0.7992|0.8476||||||||||0.7872|0.7799|0.8377|0.7461|0.8257|0.6262|0.7542|0.7373|0.8121|0.788|0.8394|0.8476|SAS|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.125-4528del|||||||rs35331099||1||deletion|||YES|||4||||||||||||||0.7508|0.7716|0.7363|0.5913|0.7992|0.8476||||||||||0.7872|0.7799|0.8377|0.7461|0.8257|0.6262|0.7542|0.7373|0.8121|0.788|0.8394|0.8476|SAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,12:0.875:12:0,0:0,6:0,6:0|1:911219_T_G:911219:0,0,6,6 -chr1 913274 . TG T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=4%2C2|3%2C3;DP=12;ECNT=3;GERMQ=26;MBQ=31,33;MFRL=0,0;MMQ=60,60;MPOS=77;POPAF=7.3;RPA=3,2;RU=G;STR;STRQ=93;TLOD=18.97;SRC=short_indel;GRP=s001;CSQ=-|upstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs5772026|896|1||deletion|||YES|||3||||||||||||||0.1556|0.0431|0.2334|0.1052|0.1918|0.2669||||||||||0.1683|0.06721|0.3564|0.2194|0.2013|0.09621|0.1936|0.1847|0.2093|0.1793|0.2525|0.3564|gnomADg_AMI|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs5772026|3595|-1||deletion|HGNC|HGNC:53933|YES|||3||||||||||||||0.1556|0.0431|0.2334|0.1052|0.1918|0.2669||||||||||0.1683|0.06721|0.3564|0.2194|0.2013|0.09621|0.1936|0.1847|0.2093|0.1793|0.2525|0.3564|gnomADg_AMI|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||||||||||rs5772026|4095|-1||deletion|HGNC|HGNC:53933||||2||||||||||||||0.1556|0.0431|0.2334|0.1052|0.1918|0.2669||||||||||0.1683|0.06721|0.3564|0.2194|0.2013|0.09621|0.1936|0.1847|0.2093|0.1793|0.2525|0.3564|gnomADg_AMI|||||||||||||,-|non_coding_transcript_exon_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA|2/2||ENST00000448179.1:n.1372del||1370|||||rs5772026||1||deletion|||YES|||2||||||||||||||0.1556|0.0431|0.2334|0.1052|0.1918|0.2669||||||||||0.1683|0.06721|0.3564|0.2194|0.2013|0.09621|0.1936|0.1847|0.2093|0.1793|0.2525|0.3564|gnomADg_AMI|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.125-2473del|||||||rs5772026||1||deletion|||YES|||4||||||||||||||0.1556|0.0431|0.2334|0.1052|0.1918|0.2669||||||||||0.1683|0.06721|0.3564|0.2194|0.2013|0.09621|0.1936|0.1847|0.2093|0.1793|0.2525|0.3564|gnomADg_AMI|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs5772026|3590|-1||deletion|HGNC|HGNC:53933||||||||||||||||||0.1556|0.0431|0.2334|0.1052|0.1918|0.2669||||||||||0.1683|0.06721|0.3564|0.2194|0.2013|0.09621|0.1936|0.1847|0.2093|0.1793|0.2525|0.3564|gnomADg_AMI|||||||||||||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000249803|CTCF_binding_site||||||||||rs5772026||||deletion||||||||||||||||||||0.1556|0.0431|0.2334|0.1052|0.1918|0.2669||||||||||0.1683|0.06721|0.3564|0.2194|0.2013|0.09621|0.1936|0.1847|0.2093|0.1793|0.2525|0.3564|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,6:0.444:12:0,0:3,3:4,3:4,2,3,3 -chr1 913870 . CCG C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4%2C4|1%2C1;DP=13;ECNT=1;GERMQ=33;MBQ=35,35;MFRL=0,0;MMQ=60,60;MPOS=82;POPAF=7.3;RPA=2,1;RU=CG;STR;STRQ=93;TLOD=7.33;SRC=short_indel;GRP=s001;CSQ=-|upstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA|||||||||||299|1||deletion|||YES|||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA|||||||||||2998|-1||deletion|HGNC|HGNC:53933|YES|||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron|||||||||||3498|-1||deletion|HGNC|HGNC:53933||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|non_coding_transcript_exon_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA|2/2||ENST00000448179.1:n.1968_1969del||1966-1967|||||||1||deletion|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.125-1877_125-1876del|||||||||1||deletion|||YES|||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron|||||||||||2993|-1||deletion|HGNC|HGNC:53933|||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:8,2:0.245:10:0,0:4,1:5,1:4,4,1,1 -chr1 921056 . TG T . weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=3%2C2|1%2C1;DP=7;ECNT=2;GERMQ=30;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=82;POPAF=7.3;RPA=4,3;RU=G;STR;STRQ=93;TLOD=3.77;SRC=short_indel;GRP=s001;CSQ=-|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||||||||||rs34105146|4674|1||deletion|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.1466|0.0552|0.2305|0.0595|0.1789|0.2669||||||||||0.1585|0.07216|0.3333|0.209|0.214|0.06084|0.173|0.2184|0.1928|0.1732|0.2459|0.3333|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,-|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs34105146|1365|-1||deletion|HGNC|HGNC:53933|YES|||3||||||||||||||0.1466|0.0552|0.2305|0.0595|0.1789|0.2669||||||||||0.1585|0.07216|0.3333|0.209|0.214|0.06084|0.173|0.2184|0.1928|0.1732|0.2459|0.3333|gnomADg_AMI|||||||||||||,-|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||||||||||rs34105146|2523|-1||deletion|HGNC|HGNC:53933||||2||||||||||||||0.1466|0.0552|0.2305|0.0595|0.1789|0.2669||||||||||0.1585|0.07216|0.3333|0.209|0.214|0.06084|0.173|0.2184|0.1928|0.1732|0.2459|0.3333|gnomADg_AMI|||||||||||||,-|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||||||||||rs34105146|4093|1|cds_end_NF|deletion|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.1466|0.0552|0.2305|0.0595|0.1789|0.2669||||||||||0.1585|0.07216|0.3333|0.209|0.214|0.06084|0.173|0.2184|0.1928|0.1732|0.2459|0.3333|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,-|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs34105146|41|-1||deletion|HGNC|HGNC:53933||||||||||||||||||0.1466|0.0552|0.2305|0.0595|0.1789|0.2669||||||||||0.1585|0.07216|0.3333|0.209|0.214|0.06084|0.173|0.2184|0.1928|0.1732|0.2459|0.3333|gnomADg_AMI|||||||||||||,-|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||||||||||rs34105146|2866|1||deletion|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.1466|0.0552|0.2305|0.0595|0.1789|0.2669||||||||||0.1585|0.07216|0.3333|0.209|0.214|0.06084|0.173|0.2184|0.1928|0.1732|0.2459|0.3333|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,-|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||||||||||rs34105146|4885|1|cds_start_NF|deletion|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.1466|0.0552|0.2305|0.0595|0.1789|0.2669||||||||||0.1585|0.07216|0.3333|0.209|0.214|0.06084|0.173|0.2184|0.1928|0.1732|0.2459|0.3333|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,-|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||||||||||rs34105146|4885|1|cds_start_NF|deletion|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.1466|0.0552|0.2305|0.0595|0.1789|0.2669||||||||||0.1585|0.07216|0.3333|0.209|0.214|0.06084|0.173|0.2184|0.1928|0.1732|0.2459|0.3333|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,-|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||||||||||rs34105146|4885|1|cds_start_NF|deletion|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.1466|0.0552|0.2305|0.0595|0.1789|0.2669||||||||||0.1585|0.07216|0.3333|0.209|0.214|0.06084|0.173|0.2184|0.1928|0.1732|0.2459|0.3333|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,-|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||||||||||rs34105146|2866|1||deletion|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.1466|0.0552|0.2305|0.0595|0.1789|0.2669||||||||||0.1585|0.07216|0.3333|0.209|0.214|0.06084|0.173|0.2184|0.1928|0.1732|0.2459|0.3333|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,-|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||||||||||rs34105146|4885|1|cds_start_NF|deletion|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.1466|0.0552|0.2305|0.0595|0.1789|0.2669||||||||||0.1585|0.07216|0.3333|0.209|0.214|0.06084|0.173|0.2184|0.1928|0.1732|0.2459|0.3333|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,-|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||||||||||rs34105146|4885|1|cds_start_NF|deletion|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.1466|0.0552|0.2305|0.0595|0.1789|0.2669||||||||||0.1585|0.07216|0.3333|0.209|0.214|0.06084|0.173|0.2184|0.1928|0.1732|0.2459|0.3333|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000249804|promoter||||||||||rs34105146||||deletion||||||||||||||||||||0.1466|0.0552|0.2305|0.0595|0.1789|0.2669||||||||||0.1585|0.07216|0.3333|0.209|0.214|0.06084|0.173|0.2184|0.1928|0.1732|0.2459|0.3333|gnomADg_AMI|||||||||||||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344429|CTCF_binding_site||||||||||rs34105146||||deletion||||||||||||||||||||0.1466|0.0552|0.2305|0.0595|0.1789|0.2669||||||||||0.1585|0.07216|0.3333|0.209|0.214|0.06084|0.173|0.2184|0.1928|0.1732|0.2459|0.3333|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:5,2:0.335:7:0,0:2,1:3,1:3,2,1,1 -chr1 932613 . GTTTC G . slippage AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=4;ECNT=1;GERMQ=27;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=38;POPAF=7.3;RPA=2,1;RU=TTTC;STR;STRQ=1;TLOD=6.74;SRC=short_indel;GRP=s001;CSQ=-|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||2/11|ENST00000341065.8:c.76+1529_76+1532del|||||||rs5772025||1|cds_start_NF|deletion|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1|||||||||||||||||||||0.8468|0.485|1|0.9311|0.9928|0.9994|0.995|0.9557|0.9912|0.8812|0.9948|1|gnomADg_AMI|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,-|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||4/13|ENST00000342066.8:c.305+1529_305+1532del|||||||rs5772025||1||deletion|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1|||||||||||||||||||||0.8468|0.485|1|0.9311|0.9928|0.9994|0.995|0.9557|0.9912|0.8812|0.9948|1|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,-|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||4/4|ENST00000437963.5:c.305+1529_305+1532del|||||||rs5772025||1|cds_end_NF|deletion|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1|||||||||||||||||||||0.8468|0.485|1|0.9311|0.9928|0.9994|0.995|0.9557|0.9912|0.8812|0.9948|1|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,-|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||4/13|ENST00000616016.5:c.842+1529_842+1532del|||||||rs5772025||1||deletion|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1|||||||||||||||||||||0.8468|0.485|1|0.9311|0.9928|0.9994|0.995|0.9557|0.9912|0.8812|0.9948|1|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,-|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||3/10|ENST00000616125.5:c.305+1529_305+1532del|||||||rs5772025||1|cds_start_NF|deletion|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1|||||||||||||||||||||0.8468|0.485|1|0.9311|0.9928|0.9994|0.995|0.9557|0.9912|0.8812|0.9948|1|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,-|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||3/12|ENST00000617307.5:c.305+1529_305+1532del|||||||rs5772025||1|cds_start_NF|deletion|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1|||||||||||||||||||||0.8468|0.485|1|0.9311|0.9928|0.9994|0.995|0.9557|0.9912|0.8812|0.9948|1|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,-|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||2/9|ENST00000618181.5:c.254+2282_254+2285del|||||||rs5772025||1|cds_start_NF|deletion|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1|||||||||||||||||||||0.8468|0.485|1|0.9311|0.9928|0.9994|0.995|0.9557|0.9912|0.8812|0.9948|1|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,-|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||4/13|ENST00000618323.5:c.842+1529_842+1532del|||||||rs5772025||1||deletion|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1|||||||||||||||||||||0.8468|0.485|1|0.9311|0.9928|0.9994|0.995|0.9557|0.9912|0.8812|0.9948|1|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,-|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||3/11|ENST00000618779.5:c.305+1529_305+1532del|||||||rs5772025||1|cds_start_NF|deletion|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1|||||||||||||||||||||0.8468|0.485|1|0.9311|0.9928|0.9994|0.995|0.9557|0.9912|0.8812|0.9948|1|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,-|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||3/12|ENST00000622503.5:c.305+1529_305+1532del|||||||rs5772025||1|cds_start_NF|deletion|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1|||||||||||||||||||||0.8468|0.485|1|0.9311|0.9928|0.9994|0.995|0.9557|0.9912|0.8812|0.9948|1|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.687:2:0,0:0,1:0,1:0,0,1,1 -chr1 933548 . A AG . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=2;GERMQ=33;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=110;POPAF=7.3;RPA=6,7;RU=G;STR;STRQ=93;TLOD=5.92;SRC=short_indel;GRP=s001;CSQ=G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||2/11|ENST00000341065.8:c.77-2218dup|||||||rs56367715||1|cds_start_NF|insertion|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.5106|0.4009|0.5648|0.4653|0.6312|0.5429||||||||||0.55|0.4124|0.4857|0.5447|0.5994|0.4809|0.5936|0.5823|0.6304|0.5666|0.5601|0.6312|EUR|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||4/13|ENST00000342066.8:c.306-2218dup|||||||rs56367715||1||insertion|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.5106|0.4009|0.5648|0.4653|0.6312|0.5429||||||||||0.55|0.4124|0.4857|0.5447|0.5994|0.4809|0.5936|0.5823|0.6304|0.5666|0.5601|0.6312|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||4/4|ENST00000437963.5:c.306-2218dup|||||||rs56367715||1|cds_end_NF|insertion|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.5106|0.4009|0.5648|0.4653|0.6312|0.5429||||||||||0.55|0.4124|0.4857|0.5447|0.5994|0.4809|0.5936|0.5823|0.6304|0.5666|0.5601|0.6312|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||4/13|ENST00000616016.5:c.843-2218dup|||||||rs56367715||1||insertion|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.5106|0.4009|0.5648|0.4653|0.6312|0.5429||||||||||0.55|0.4124|0.4857|0.5447|0.5994|0.4809|0.5936|0.5823|0.6304|0.5666|0.5601|0.6312|EUR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||3/10|ENST00000616125.5:c.306-2218dup|||||||rs56367715||1|cds_start_NF|insertion|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.5106|0.4009|0.5648|0.4653|0.6312|0.5429||||||||||0.55|0.4124|0.4857|0.5447|0.5994|0.4809|0.5936|0.5823|0.6304|0.5666|0.5601|0.6312|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||3/12|ENST00000617307.5:c.306-2218dup|||||||rs56367715||1|cds_start_NF|insertion|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.5106|0.4009|0.5648|0.4653|0.6312|0.5429||||||||||0.55|0.4124|0.4857|0.5447|0.5994|0.4809|0.5936|0.5823|0.6304|0.5666|0.5601|0.6312|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||2/9|ENST00000618181.5:c.255-2218dup|||||||rs56367715||1|cds_start_NF|insertion|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.5106|0.4009|0.5648|0.4653|0.6312|0.5429||||||||||0.55|0.4124|0.4857|0.5447|0.5994|0.4809|0.5936|0.5823|0.6304|0.5666|0.5601|0.6312|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||4/13|ENST00000618323.5:c.843-2218dup|||||||rs56367715||1||insertion|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.5106|0.4009|0.5648|0.4653|0.6312|0.5429||||||||||0.55|0.4124|0.4857|0.5447|0.5994|0.4809|0.5936|0.5823|0.6304|0.5666|0.5601|0.6312|EUR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||3/11|ENST00000618779.5:c.306-2218dup|||||||rs56367715||1|cds_start_NF|insertion|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.5106|0.4009|0.5648|0.4653|0.6312|0.5429||||||||||0.55|0.4124|0.4857|0.5447|0.5994|0.4809|0.5936|0.5823|0.6304|0.5666|0.5601|0.6312|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||3/12|ENST00000622503.5:c.306-2218dup|||||||rs56367715||1|cds_start_NF|insertion|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.5106|0.4009|0.5648|0.4653|0.6312|0.5429||||||||||0.55|0.4124|0.4857|0.5447|0.5994|0.4809|0.5936|0.5823|0.6304|0.5666|0.5601|0.6312|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918368|enhancer||||||||||rs56367715||||insertion||||||||||||||||||||0.5106|0.4009|0.5648|0.4653|0.6312|0.5429||||||||||0.55|0.4124|0.4857|0.5447|0.5994|0.4809|0.5936|0.5823|0.6304|0.5666|0.5601|0.6312|EUR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 937396 . GCC G . weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=32;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=125;POPAF=7.3;RPA=11,9;RU=C;STR;STRQ=93;TLOD=3.25;SRC=short_indel;GRP=s001;CSQ=-|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||3/11|ENST00000341065.8:c.201+1510_201+1511del|||||||rs5772023||1|cds_start_NF|deletion|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.6092|0.7254|0.6239|0.6052|0.5328|0.5245||||||||||0.5546|0.6863|0.5882|0.5785|0.6325|0.5561|0.5288|0.5134|0.4724|0.5618|0.5203|0.7254|AFR|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,-|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||5/13|ENST00000342066.8:c.430+1510_430+1511del|||||||rs5772023||1||deletion|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.6092|0.7254|0.6239|0.6052|0.5328|0.5245||||||||||0.5546|0.6863|0.5882|0.5785|0.6325|0.5561|0.5288|0.5134|0.4724|0.5618|0.5203|0.7254|AFR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,-|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||||||||||rs5772023|1604|1|cds_end_NF|deletion|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.6092|0.7254|0.6239|0.6052|0.5328|0.5245||||||||||0.5546|0.6863|0.5882|0.5785|0.6325|0.5561|0.5288|0.5134|0.4724|0.5618|0.5203|0.7254|AFR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,-|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000455979|protein_coding||||||||||rs5772023|1877|1|cds_start_NF|deletion|HGNC|HGNC:28706||||2|||ENSP00000412228||H7C3J6.55|UPI000155D479||1||||||0.6092|0.7254|0.6239|0.6052|0.5328|0.5245||||||||||0.5546|0.6863|0.5882|0.5785|0.6325|0.5561|0.5288|0.5134|0.4724|0.5618|0.5203|0.7254|AFR|||||||||||XALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVRRWGVRSGSPDHSWAESSGWVCDSPHQAISLQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,-|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000464948|retained_intron||||||||||rs5772023|4768|1||deletion|HGNC|HGNC:28706||||2||||||||1||||||0.6092|0.7254|0.6239|0.6052|0.5328|0.5245||||||||||0.5546|0.6863|0.5882|0.5785|0.6325|0.5561|0.5288|0.5134|0.4724|0.5618|0.5203|0.7254|AFR|||||||||||||,-|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000466827|retained_intron||||||||||rs5772023|4705|1||deletion|HGNC|HGNC:28706||||3||||||||1||||||0.6092|0.7254|0.6239|0.6052|0.5328|0.5245||||||||||0.5546|0.6863|0.5882|0.5785|0.6325|0.5561|0.5288|0.5134|0.4724|0.5618|0.5203|0.7254|AFR|||||||||||||,-|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000474461|retained_intron||||||||||rs5772023|3678|1||deletion|HGNC|HGNC:28706||||5||||||||1||||||0.6092|0.7254|0.6239|0.6052|0.5328|0.5245||||||||||0.5546|0.6863|0.5882|0.5785|0.6325|0.5561|0.5288|0.5134|0.4724|0.5618|0.5203|0.7254|AFR|||||||||||||,-|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000478729|protein_coding_CDS_not_defined||||||||||rs5772023|2948|1||deletion|HGNC|HGNC:28706||||5||||||||1||||||0.6092|0.7254|0.6239|0.6052|0.5328|0.5245||||||||||0.5546|0.6863|0.5882|0.5785|0.6325|0.5561|0.5288|0.5134|0.4724|0.5618|0.5203|0.7254|AFR|||||||||||||,-|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||5/13|ENST00000616016.5:c.967+1510_967+1511del|||||||rs5772023||1||deletion|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.6092|0.7254|0.6239|0.6052|0.5328|0.5245||||||||||0.5546|0.6863|0.5882|0.5785|0.6325|0.5561|0.5288|0.5134|0.4724|0.5618|0.5203|0.7254|AFR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,-|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||4/10|ENST00000616125.5:c.430+1510_430+1511del|||||||rs5772023||1|cds_start_NF|deletion|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.6092|0.7254|0.6239|0.6052|0.5328|0.5245||||||||||0.5546|0.6863|0.5882|0.5785|0.6325|0.5561|0.5288|0.5134|0.4724|0.5618|0.5203|0.7254|AFR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,-|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||4/12|ENST00000617307.5:c.430+1510_430+1511del|||||||rs5772023||1|cds_start_NF|deletion|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.6092|0.7254|0.6239|0.6052|0.5328|0.5245||||||||||0.5546|0.6863|0.5882|0.5785|0.6325|0.5561|0.5288|0.5134|0.4724|0.5618|0.5203|0.7254|AFR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,-|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||3/9|ENST00000618181.5:c.379+1510_379+1511del|||||||rs5772023||1|cds_start_NF|deletion|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.6092|0.7254|0.6239|0.6052|0.5328|0.5245||||||||||0.5546|0.6863|0.5882|0.5785|0.6325|0.5561|0.5288|0.5134|0.4724|0.5618|0.5203|0.7254|AFR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,-|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||5/13|ENST00000618323.5:c.967+1510_967+1511del|||||||rs5772023||1||deletion|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.6092|0.7254|0.6239|0.6052|0.5328|0.5245||||||||||0.5546|0.6863|0.5882|0.5785|0.6325|0.5561|0.5288|0.5134|0.4724|0.5618|0.5203|0.7254|AFR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,-|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||4/11|ENST00000618779.5:c.430+1510_430+1511del|||||||rs5772023||1|cds_start_NF|deletion|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.6092|0.7254|0.6239|0.6052|0.5328|0.5245||||||||||0.5546|0.6863|0.5882|0.5785|0.6325|0.5561|0.5288|0.5134|0.4724|0.5618|0.5203|0.7254|AFR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,-|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||4/12|ENST00000622503.5:c.430+1510_430+1511del|||||||rs5772023||1|cds_start_NF|deletion|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.6092|0.7254|0.6239|0.6052|0.5328|0.5245||||||||||0.5546|0.6863|0.5882|0.5785|0.6325|0.5561|0.5288|0.5134|0.4724|0.5618|0.5203|0.7254|AFR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,0:0,1:0,0,0,1 -chr1 942701 . GGC G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=17%2C18|1%2C1;DP=37;ECNT=1;GERMQ=93;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=69;POPAF=7.3;RPA=2,1;RU=GC;STR;STRQ=93;TLOD=6.27;SRC=short_indel;GRP=s001;CSQ=-|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding|||||||||||1500|-1||deletion|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||||||||||||||||||||||||||||||||||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,-|frameshift_variant|HIGH|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding|9/12||ENST00000341065.8:c.934_935del|ENSP00000349216.4:p.Ala312GlyfsTer50|931-932|932-933|311|G/X|gGC/g|||1|cds_start_NF|deletion|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1|||||3|||||||||||||||||||||||||||||||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|GATAGPAPPGAPGLRTPHPVPGLCPASPPEGGSRPCLSAAQRVQGDDGG|-228,-|frameshift_variant|HIGH|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding|11/14||ENST00000342066.8:c.1211_1212del|ENSP00000342313.3:p.Ala404GlyfsTer50|1298-1299|1208-1209|403|G/X|gGC/g|||1||deletion|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1|||||3|||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|GATAGPAPPGAPGLRTPHPVPGLCPASPPEGGSRPCLSAAQRVQGDDGG|-228,-|frameshift_variant|HIGH|SAMD11|ENSG00000187634|Transcript|ENST00000455979|protein_coding|5/7||ENST00000455979.1:c.691_692del|ENSP00000412228.1:p.Ala231GlyfsTer50|688-689|689-690|230|G/X|gGC/g|||1|cds_start_NF|deletion|HGNC|HGNC:28706||||2|||ENSP00000412228||H7C3J6.55|UPI000155D479||1|||||3|||||||||||||||||||||||||||||||||||||||XALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVRRWGVRSGSPDHSWAESSGWVCDSPHQAISLQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|GATAGPAPPGAPGLRTPHPVPGLCPASPPEGGSRPCLSAAQRVQGDDGG|-261,-|non_coding_transcript_exon_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000464948|retained_intron|2/2||ENST00000464948.1:n.470_471del||467-468|||||||1||deletion|HGNC|HGNC:28706||||2||||||||1||||||||||||||||||||||||||||||||||||||||||||||,-|non_coding_transcript_exon_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000466827|retained_intron|2/2||ENST00000466827.1:n.445_446del||442-443|||||||1||deletion|HGNC|HGNC:28706||||3||||||||1||||||||||||||||||||||||||||||||||||||||||||||,-|non_coding_transcript_exon_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000474461|retained_intron|4/4||ENST00000474461.1:n.573_574del||570-571|||||||1||deletion|HGNC|HGNC:28706||||5||||||||1||||||||||||||||||||||||||||||||||||||||||||||,-|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron|||||||||||1502|-1||deletion|HGNC|HGNC:24517||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000478729|protein_coding_CDS_not_defined|||||||||||529|1||deletion|HGNC|HGNC:28706||||5||||||||1||||||||||||||||||||||||||||||||||||||||||||||,-|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000483767|retained_intron|||||||||||1501|-1||deletion|HGNC|HGNC:24517||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000496938|protein_coding_CDS_not_defined|||||||||||2616|-1||deletion|HGNC|HGNC:24517||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|frameshift_variant|HIGH|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding|11/14||ENST00000616016.5:c.1700_1701del|ENSP00000478421.2:p.Ala567GlyfsTer50|2206-2207|1697-1698|566|G/X|gGC/g|||1||deletion|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1|||||3|||||||||||||||||||||||||||||||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|GATAGPAPPGAPGLRTPHPVPGLCPASPPEGGSRPCLSAAQRVQGDDGG|-228,-|frameshift_variant|HIGH|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding|8/11||ENST00000616125.5:c.887_888del|ENSP00000484643.1:p.Ala296GlyfsTer50|884-885|884-885|295|G/X|gGC/g|||1|cds_start_NF|deletion|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1|||||3|||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|GATAGPAPPGAPGLRTPHPVPGLCPASPPEGGSRPCLSAAQRVQGDDGG|-228,-|frameshift_variant|HIGH|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding|10/13||ENST00000617307.5:c.1214_1215del|ENSP00000482090.2:p.Ala405GlyfsTer50|1211-1212|1211-1212|404|G/X|gGC/g|||1|cds_start_NF|deletion|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1|||||3|||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|GATAGPAPPGAPGLRTPHPVPGLCPASPPEGGSRPCLSAAQRVQGDDGG|-207,-|frameshift_variant|HIGH|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding|7/10||ENST00000618181.5:c.836_837del|ENSP00000480870.1:p.Ala279GlyfsTer50|833-834|833-834|278|G/X|gGC/g|||1|cds_start_NF|deletion|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1|||||3|||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|GATAGPAPPGAPGLRTPHPVPGLCPASPPEGGSRPCLSAAQRVQGDDGG|-228,-|frameshift_variant|HIGH|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding|11/14||ENST00000618323.5:c.1703_1704del|ENSP00000480678.2:p.Ala568GlyfsTer50|2209-2210|1700-1701|567|G/X|gGC/g|||1||deletion|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1|||||3|||||||||||||||||||||||||||||||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|GATAGPAPPGAPGLRTPHPVPGLCPASPPEGGSRPCLSAAQRVQGDDGG|-228,-|frameshift_variant|HIGH|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding|9/12||ENST00000618779.5:c.1025_1026del|ENSP00000484256.1:p.Ala342GlyfsTer50|1022-1023|1022-1023|341|G/X|gGC/g|||1|cds_start_NF|deletion|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1|||||3|||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|GATAGPAPPGAPGLRTPHPVPGLCPASPPEGGSRPCLSAAQRVQGDDGG|-228,-|frameshift_variant|HIGH|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding|10/13||ENST00000622503.5:c.1214_1215del|ENSP00000482138.1:p.Ala405GlyfsTer50|1211-1212|1211-1212|404|G/X|gGC/g|||1|cds_start_NF|deletion|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1|||||3|||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|GATAGPAPPGAPGLRTPHPVPGLCPASPPEGGSRPCLSAAQRVQGDDGG|-228,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164803|promoter||||||||||||||deletion|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:35,2:0.091:37:1,0:17,1:19,1:17,18,1,1 -chr1 944259 . CAA C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=42%2C42|1%2C1;DP=87;ECNT=3;GERMQ=93;MBQ=34,34;MFRL=0,0;MMQ=60,60;MPOS=100;POPAF=7.3;RPA=6,4;RU=A;STR;STRQ=93;TLOD=5.41;SRC=short_indel;GRP=s001;CSQ=-|3_prime_UTR_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding|19/19||ENST00000327044.7:c.*433_*434del||2699-2700|||||||-1||deletion|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||||||||||||||||||||||||||||||||||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,-|3_prime_UTR_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding|12/12||ENST00000341065.8:c.*111_*112del||1876-1877|||||||1|cds_start_NF|deletion|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||||||||||||||||||||||||||||||||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,-|3_prime_UTR_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding|14/14||ENST00000342066.8:c.*111_*112del||2243-2244|||||||1||deletion|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,-|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000455979|protein_coding|||||||||||1|1|cds_start_NF|deletion|HGNC|HGNC:28706||||2|||ENSP00000412228||H7C3J6.55|UPI000155D479||1||||||||||||||||||||||||||||||||||||||||||||XALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVRRWGVRSGSPDHSWAESSGWVCDSPHQAISLQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,-|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000464948|retained_intron|||||||||||1368|1||deletion|HGNC|HGNC:28706||||2||||||||1||||||||||||||||||||||||||||||||||||||||||||||,-|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000466827|retained_intron|||||||||||1458|1||deletion|HGNC|HGNC:28706||||3||||||||1||||||||||||||||||||||||||||||||||||||||||||||,-|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000474461|retained_intron|||||||||||1266|1||deletion|HGNC|HGNC:28706||||5||||||||1||||||||||||||||||||||||||||||||||||||||||||||,-|non_coding_transcript_exon_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron|17/17||ENST00000477976.5:n.4145_4146del||4145-4146|||||||-1||deletion|HGNC|HGNC:24517||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000478729|protein_coding_CDS_not_defined|||||||||||2087|1||deletion|HGNC|HGNC:28706||||5||||||||1||||||||||||||||||||||||||||||||||||||||||||||,-|non_coding_transcript_exon_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000483767|retained_intron|5/5||ENST00000483767.5:n.1554_1555del||1554-1555|||||||-1||deletion|HGNC|HGNC:24517||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000496938|protein_coding_CDS_not_defined|||||||||||1058|-1||deletion|HGNC|HGNC:24517||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|3_prime_UTR_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding|14/14||ENST00000616016.5:c.*111_*112del||3151-3152|||||||1||deletion|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||||||||||||||||||||||||||||||||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,-|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding|||||||||||107|1|cds_start_NF|deletion|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,-|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding|||||||||||107|1|cds_start_NF|deletion|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,-|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding|||||||||||107|1|cds_start_NF|deletion|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,-|3_prime_UTR_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding|14/14||ENST00000618323.5:c.*111_*112del||3154-3155|||||||1||deletion|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||||||||||||||||||||||||||||||||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,-|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding|||||||||||107|1|cds_start_NF|deletion|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,-|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding|||||||||||107|1|cds_start_NF|deletion|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:84,2:0.039:86:0,0:43,1:48,1:42,42,1,1 -chr1 945259 . TC T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C1|0%2C2;DP=5;ECNT=1;GERMQ=28;MBQ=34,31;MFRL=0,0;MMQ=60,60;MPOS=53;POPAF=7.3;RPA=2,1;RU=C;STR;STRQ=93;TLOD=6;SRC=short_indel;GRP=s001;CSQ=-|intron_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||17/18|ENST00000327044.7:c.2054-114del|||||||rs35916504||-1||deletion|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||0.1881|0.0915|0.2565|0.0804|0.2684|0.2986||||||||||0.2143|0.1075|0.3465|0.2476|0.3124|0.07586|0.2727|0.2658|0.2614|0.2251|0.2809|0.3465|gnomADg_AMI|||||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,-|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||||||||||rs35916504|685|1|cds_start_NF|deletion|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.1881|0.0915|0.2565|0.0804|0.2684|0.2986||||||||||0.2143|0.1075|0.3465|0.2476|0.3124|0.07586|0.2727|0.2658|0.2614|0.2251|0.2809|0.3465|gnomADg_AMI|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,-|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||||||||||rs35916504|686|1||deletion|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.1881|0.0915|0.2565|0.0804|0.2684|0.2986||||||||||0.2143|0.1075|0.3465|0.2476|0.3124|0.07586|0.2727|0.2658|0.2614|0.2251|0.2809|0.3465|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,-|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000455979|protein_coding||||||||||rs35916504|1001|1|cds_start_NF|deletion|HGNC|HGNC:28706||||2|||ENSP00000412228||H7C3J6.55|UPI000155D479||1||||||0.1881|0.0915|0.2565|0.0804|0.2684|0.2986||||||||||0.2143|0.1075|0.3465|0.2476|0.3124|0.07586|0.2727|0.2658|0.2614|0.2251|0.2809|0.3465|gnomADg_AMI|||||||||||XALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVRRWGVRSGSPDHSWAESSGWVCDSPHQAISLQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,-|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000464948|retained_intron||||||||||rs35916504|2368|1||deletion|HGNC|HGNC:28706||||2||||||||1||||||0.1881|0.0915|0.2565|0.0804|0.2684|0.2986||||||||||0.2143|0.1075|0.3465|0.2476|0.3124|0.07586|0.2727|0.2658|0.2614|0.2251|0.2809|0.3465|gnomADg_AMI|||||||||||||,-|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000466827|retained_intron||||||||||rs35916504|2458|1||deletion|HGNC|HGNC:28706||||3||||||||1||||||0.1881|0.0915|0.2565|0.0804|0.2684|0.2986||||||||||0.2143|0.1075|0.3465|0.2476|0.3124|0.07586|0.2727|0.2658|0.2614|0.2251|0.2809|0.3465|gnomADg_AMI|||||||||||||,-|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000474461|retained_intron||||||||||rs35916504|2266|1||deletion|HGNC|HGNC:28706||||5||||||||1||||||0.1881|0.0915|0.2565|0.0804|0.2684|0.2986||||||||||0.2143|0.1075|0.3465|0.2476|0.3124|0.07586|0.2727|0.2658|0.2614|0.2251|0.2809|0.3465|gnomADg_AMI|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron||15/16|ENST00000477976.5:n.3501-114del|||||||rs35916504||-1||deletion|HGNC|HGNC:24517||||5||||||||||||||0.1881|0.0915|0.2565|0.0804|0.2684|0.2986||||||||||0.2143|0.1075|0.3465|0.2476|0.3124|0.07586|0.2727|0.2658|0.2614|0.2251|0.2809|0.3465|gnomADg_AMI|||||||||||||,-|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000478729|protein_coding_CDS_not_defined||||||||||rs35916504|3087|1||deletion|HGNC|HGNC:28706||||5||||||||1||||||0.1881|0.0915|0.2565|0.0804|0.2684|0.2986||||||||||0.2143|0.1075|0.3465|0.2476|0.3124|0.07586|0.2727|0.2658|0.2614|0.2251|0.2809|0.3465|gnomADg_AMI|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000483767|retained_intron||3/4|ENST00000483767.5:n.910-114del|||||||rs35916504||-1||deletion|HGNC|HGNC:24517||||2||||||||||||||0.1881|0.0915|0.2565|0.0804|0.2684|0.2986||||||||||0.2143|0.1075|0.3465|0.2476|0.3124|0.07586|0.2727|0.2658|0.2614|0.2251|0.2809|0.3465|gnomADg_AMI|||||||||||||,-|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000496938|protein_coding_CDS_not_defined||||||||||rs35916504|59|-1||deletion|HGNC|HGNC:24517||||5||||||||||||||0.1881|0.0915|0.2565|0.0804|0.2684|0.2986||||||||||0.2143|0.1075|0.3465|0.2476|0.3124|0.07586|0.2727|0.2658|0.2614|0.2251|0.2809|0.3465|gnomADg_AMI|||||||||||||,-|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||||||||||rs35916504|686|1||deletion|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.1881|0.0915|0.2565|0.0804|0.2684|0.2986||||||||||0.2143|0.1075|0.3465|0.2476|0.3124|0.07586|0.2727|0.2658|0.2614|0.2251|0.2809|0.3465|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,-|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||||||||||rs35916504|1107|1|cds_start_NF|deletion|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.1881|0.0915|0.2565|0.0804|0.2684|0.2986||||||||||0.2143|0.1075|0.3465|0.2476|0.3124|0.07586|0.2727|0.2658|0.2614|0.2251|0.2809|0.3465|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,-|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||||||||||rs35916504|1107|1|cds_start_NF|deletion|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.1881|0.0915|0.2565|0.0804|0.2684|0.2986||||||||||0.2143|0.1075|0.3465|0.2476|0.3124|0.07586|0.2727|0.2658|0.2614|0.2251|0.2809|0.3465|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,-|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||||||||||rs35916504|1107|1|cds_start_NF|deletion|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.1881|0.0915|0.2565|0.0804|0.2684|0.2986||||||||||0.2143|0.1075|0.3465|0.2476|0.3124|0.07586|0.2727|0.2658|0.2614|0.2251|0.2809|0.3465|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,-|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||||||||||rs35916504|686|1||deletion|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.1881|0.0915|0.2565|0.0804|0.2684|0.2986||||||||||0.2143|0.1075|0.3465|0.2476|0.3124|0.07586|0.2727|0.2658|0.2614|0.2251|0.2809|0.3465|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,-|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||||||||||rs35916504|1107|1|cds_start_NF|deletion|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.1881|0.0915|0.2565|0.0804|0.2684|0.2986||||||||||0.2143|0.1075|0.3465|0.2476|0.3124|0.07586|0.2727|0.2658|0.2614|0.2251|0.2809|0.3465|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,-|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||||||||||rs35916504|1107|1|cds_start_NF|deletion|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.1881|0.0915|0.2565|0.0804|0.2684|0.2986||||||||||0.2143|0.1075|0.3465|0.2476|0.3124|0.07586|0.2727|0.2658|0.2614|0.2251|0.2809|0.3465|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344438|CTCF_binding_site||||||||||rs35916504||||deletion||||||||||||||||||||0.1881|0.0915|0.2565|0.0804|0.2684|0.2986||||||||||0.2143|0.1075|0.3465|0.2476|0.3124|0.07586|0.2727|0.2658|0.2614|0.2251|0.2809|0.3465|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,2:0.5:5:0,0:2,0:2,2:2,1,0,2 -chr1 949171 . GAGAA G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|2%2C1;DP=7;ECNT=1;GERMQ=17;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=26;POPAF=7.3;TLOD=12.4;SRC=short_indel;GRP=s001;CSQ=-|intron_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||12/18|ENST00000327044.7:c.1444-572_1444-569del|||||||rs70949530||-1||deletion|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C|||||||||||||||||||||||0.5119|0.216|0.51|0.4947|0.5606|0.6383|0.6234|0.5617|0.6359|0.535|0.5669|0.6383|gnomADg_EAS|||||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,-|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||||||||||rs70949530|4597|1|cds_start_NF|deletion|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1|||||||||||||||||||||0.5119|0.216|0.51|0.4947|0.5606|0.6383|0.6234|0.5617|0.6359|0.535|0.5669|0.6383|gnomADg_EAS|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,-|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||||||||||rs70949530|4598|1||deletion|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1|||||||||||||||||||||0.5119|0.216|0.51|0.4947|0.5606|0.6383|0.6234|0.5617|0.6359|0.535|0.5669|0.6383|gnomADg_EAS|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,-|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000455979|protein_coding||||||||||rs70949530|4913|1|cds_start_NF|deletion|HGNC|HGNC:28706||||2|||ENSP00000412228||H7C3J6.55|UPI000155D479||1|||||||||||||||||||||0.5119|0.216|0.51|0.4947|0.5606|0.6383|0.6234|0.5617|0.6359|0.535|0.5669|0.6383|gnomADg_EAS|||||||||||XALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVRRWGVRSGSPDHSWAESSGWVCDSPHQAISLQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,-|intron_variant&non_coding_transcript_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron||10/16|ENST00000477976.5:n.2891-572_2891-569del|||||||rs70949530||-1||deletion|HGNC|HGNC:24517||||5|||||||||||||||||||||||||||||0.5119|0.216|0.51|0.4947|0.5606|0.6383|0.6234|0.5617|0.6359|0.535|0.5669|0.6383|gnomADg_EAS|||||||||||||,-|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000483767|retained_intron||||||||||rs70949530|2112|-1||deletion|HGNC|HGNC:24517||||2|||||||||||||||||||||||||||||0.5119|0.216|0.51|0.4947|0.5606|0.6383|0.6234|0.5617|0.6359|0.535|0.5669|0.6383|gnomADg_EAS|||||||||||||,-|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000496938|protein_coding_CDS_not_defined||||||||||rs70949530|3610|-1||deletion|HGNC|HGNC:24517||||5|||||||||||||||||||||||||||||0.5119|0.216|0.51|0.4947|0.5606|0.6383|0.6234|0.5617|0.6359|0.535|0.5669|0.6383|gnomADg_EAS|||||||||||||,-|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||||||||||rs70949530|4598|1||deletion|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1|||||||||||||||||||||0.5119|0.216|0.51|0.4947|0.5606|0.6383|0.6234|0.5617|0.6359|0.535|0.5669|0.6383|gnomADg_EAS|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,-|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||||||||||rs70949530|4598|1||deletion|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1|||||||||||||||||||||0.5119|0.216|0.51|0.4947|0.5606|0.6383|0.6234|0.5617|0.6359|0.535|0.5669|0.6383|gnomADg_EAS|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,3:0.606:5:0,0:1,2:1,2:1,1,2,1 -chr1 954827 . GA G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C1;DP=6;ECNT=1;GERMQ=39;MBQ=0,29;MFRL=0,0;MMQ=60,60;MPOS=29;POPAF=7.3;RPA=11,10;RU=A;STR;STRQ=3;TLOD=6.07;SRC=short_indel;GRP=s001;CSQ=-|intron_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||6/18|ENST00000327044.7:c.699-746del|||||||rs997826019||-1||deletion|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C|||||||||||||||||||||||0.0001884|0.0003082|0|0|0|0|0.00069|0|0.0001226|0.0005045|0|0.00069|gnomADg_FIN|||||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,-|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000469563|retained_intron||||||||||rs997826019|3418|-1||deletion|HGNC|HGNC:24517||||2|||||||||||||||||||||||||||||0.0001884|0.0003082|0|0|0|0|0.00069|0|0.0001226|0.0005045|0|0.00069|gnomADg_FIN|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron||4/16|ENST00000477976.5:n.1705-305del|||||||rs997826019||-1||deletion|HGNC|HGNC:24517||||5|||||||||||||||||||||||||||||0.0001884|0.0003082|0|0|0|0|0.00069|0|0.0001226|0.0005045|0|0.00069|gnomADg_FIN|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000487214|protein_coding_CDS_not_defined||6/6|ENST00000487214.1:n.768-305del|||||||rs997826019||-1||deletion|HGNC|HGNC:24517||||3|||||||||||||||||||||||||||||0.0001884|0.0003082|0|0|0|0|0.00069|0|0.0001226|0.0005045|0|0.00069|gnomADg_FIN||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.764:3:0,0:0,1:0,2:0,0,2,1 -chr1 958810 . T TG . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5%2C7|1%2C1;DP=17;ECNT=1;GERMQ=40;MBQ=33,31;MFRL=0,0;MMQ=60,60;MPOS=95;POPAF=7.3;RPA=6,7;RU=G;STR;STRQ=93;TLOD=4.3;SRC=short_indel;GRP=s001;CSQ=G|intron_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||2/18|ENST00000327044.7:c.179+118dup|||||||rs1219790470||-1||insertion|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||||||||4.992e-06|0|0|0|6.693e-05|0|0|0|0|2.628e-05|4.826e-05|0|0|0|0.0001925|0|0|1.47e-05|0|0|0.0001925|gnomADg_EAS|||||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,G|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding||||||||||rs1219790470|1773|1||insertion|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0||||||||||||||4.992e-06|0|0|0|6.693e-05|0|0|0|0|2.628e-05|4.826e-05|0|0|0|0.0001925|0|0|1.47e-05|0|0|0.0001925|gnomADg_EAS|||||||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,G|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000463212|retained_intron||||||||||rs1219790470|2638|1||insertion|HGNC|HGNC:24023||||1||||||||||||||||||||4.992e-06|0|0|0|6.693e-05|0|0|0|0|2.628e-05|4.826e-05|0|0|0|0.0001925|0|0|1.47e-05|0|0|0.0001925|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000466300|nonsense_mediated_decay||||||||||rs1219790470|3916|1|cds_start_NF|insertion|HGNC|HGNC:24023||||3|||ENSP00000463694||J3QLT4.45|UPI000268AE1E||||||||||||||4.992e-06|0|0|0|6.693e-05|0|0|0|0|2.628e-05|4.826e-05|0|0|0|0.0001925|0|0|1.47e-05|0|0|0.0001925|gnomADg_EAS|||||||||||XLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGASPGAWGVAQQWDPLTSPVSTCPPQAAGACLPSTETVRPTTRAPTAGTWWPPCPRAGPGWEWLRWGTGSMLWAAMMGPQTWLPWSPTTP||,G|non_coding_transcript_exon_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000469563|retained_intron|2/2||ENST00000469563.1:n.313dup||313-314|||||rs1219790470||-1||insertion|HGNC|HGNC:24517||||2||||||||||||||||||||4.992e-06|0|0|0|6.693e-05|0|0|0|0|2.628e-05|4.826e-05|0|0|0|0.0001925|0|0|1.47e-05|0|0|0.0001925|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron||||||||||rs1219790470|352|-1||insertion|HGNC|HGNC:24517||||5||||||||||||||||||||4.992e-06|0|0|0|6.693e-05|0|0|0|0|2.628e-05|4.826e-05|0|0|0|0.0001925|0|0|1.47e-05|0|0|0.0001925|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000481067|retained_intron||||||||||rs1219790470|4741|1||insertion|HGNC|HGNC:24023||||2||||||||||||||||||||4.992e-06|0|0|0|6.693e-05|0|0|0|0|2.628e-05|4.826e-05|0|0|0|0.0001925|0|0|1.47e-05|0|0|0.0001925|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000487214|protein_coding_CDS_not_defined||2/6|ENST00000487214.1:n.248+118dup|||||||rs1219790470||-1||insertion|HGNC|HGNC:24517||||3||||||||||||||||||||4.992e-06|0|0|0|6.693e-05|0|0|0|0|2.628e-05|4.826e-05|0|0|0|0.0001925|0|0|1.47e-05|0|0|0.0001925|gnomADg_EAS|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000111|promoter||||||||||rs1219790470||||insertion||||||||||||||||||||||||||4.992e-06|0|0|0|6.693e-05|0|0|0|0|2.628e-05|4.826e-05|0|0|0|0.0001925|0|0|1.47e-05|0|0|0.0001925|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:12,2:0.192:14:0,0:5,1:7,1:5,7,1,1 -chr1 965337 . CTTAT C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4%2C4|7%2C8;DP=24;ECNT=2;GERMQ=17;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=63;POPAF=7.3;RPA=2,1;RU=TTAT;STR;STRQ=40;TLOD=63.05;SRC=short_indel;GRP=s001;CSQ=-|3_prime_UTR_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding|12/12||ENST00000338591.8:c.*152_*155del||2186-2189|||||rs142545439||1||deletion|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0||||||||0.3706|0.034|0.4942|0.3512|0.6233|0.498||||||||||0.4592|0.1191|0.4901|0.5285|0.5488|0.3739|0.6104|0.5411|0.6247|0.4914|0.5029|0.6247|gnomADg_NFE|||||||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,-|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding||||||||||rs142545439|1161|1||deletion|HGNC|HGNC:25284||||1|A2|CCDS53256.1|ENSP00000368717|Q494U1.135||UPI00005764FF|Q494U1-3|||||||0.3706|0.034|0.4942|0.3512|0.6233|0.498||||||||||0.4592|0.1191|0.4901|0.5285|0.5488|0.3739|0.6104|0.5411|0.6247|0.4914|0.5029|0.6247|gnomADg_NFE|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,-|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding||||||||||rs142545439|1161|1||deletion|HGNC|HGNC:25284||||2|A2|CCDS90835.1|ENSP00000368719|Q494U1.135||UPI0000D61E06|Q494U1-2|||||||0.3706|0.034|0.4942|0.3512|0.6233|0.498||||||||||0.4592|0.1191|0.4901|0.5285|0.5488|0.3739|0.6104|0.5411|0.6247|0.4914|0.5029|0.6247|gnomADg_NFE|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGVWDASRAPRGTPDPGLGEGPALWLRSTCVYVCALSALPAGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,-|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding||||||||||rs142545439|1141|1||deletion|HGNC|HGNC:25284|YES|NM_032129.3||1|P4|CCDS4.1|ENSP00000368720|Q494U1.135||UPI00001416D8|Q494U1-1|||||||0.3706|0.034|0.4942|0.3512|0.6233|0.498||||||||||0.4592|0.1191|0.4901|0.5285|0.5488|0.3739|0.6104|0.5411|0.6247|0.4914|0.5029|0.6247|gnomADg_NFE|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,-|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000463212|retained_intron||||||||||rs142545439|2860|1||deletion|HGNC|HGNC:24023||||1||||||||||||||0.3706|0.034|0.4942|0.3512|0.6233|0.498||||||||||0.4592|0.1191|0.4901|0.5285|0.5488|0.3739|0.6104|0.5411|0.6247|0.4914|0.5029|0.6247|gnomADg_NFE|||||||||||||,-|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000466300|nonsense_mediated_decay||||||||||rs142545439|808|1|cds_start_NF|deletion|HGNC|HGNC:24023||||3|||ENSP00000463694||J3QLT4.45|UPI000268AE1E||||||||0.3706|0.034|0.4942|0.3512|0.6233|0.498||||||||||0.4592|0.1191|0.4901|0.5285|0.5488|0.3739|0.6104|0.5411|0.6247|0.4914|0.5029|0.6247|gnomADg_NFE|||||||||||XLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGASPGAWGVAQQWDPLTSPVSTCPPQAAGACLPSTETVRPTTRAPTAGTWWPPCPRAGPGWEWLRWGTGSMLWAAMMGPQTWLPWSPTTP||,-|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000481067|retained_intron||||||||||rs142545439|1174|1||deletion|HGNC|HGNC:24023||||2||||||||||||||0.3706|0.034|0.4942|0.3512|0.6233|0.498||||||||||0.4592|0.1191|0.4901|0.5285|0.5488|0.3739|0.6104|0.5411|0.6247|0.4914|0.5029|0.6247|gnomADg_NFE||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:8,15:0.625:23:0,0:3,8:5,9:0|1:965337_CTTAT_C:965337:4,4,7,8 -chr1 965666 . ACC A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=6%2C6|3%2C4;DP=20;ECNT=4;GERMQ=26;MBQ=32,32;MFRL=0,0;MMQ=60,60;MPOS=83;POPAF=7.3;RPA=4,2;RU=C;STR;STRQ=93;TLOD=28.13;SRC=short_indel;GRP=s001;CSQ=-|3_prime_UTR_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding|12/12||ENST00000338591.8:c.*478_*479del||2515-2516|||||rs34612277||1||deletion|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0||||||||0.1775|0.0734|0.2003|0.0853|0.2714|0.3006||||||||||0.2035|0.08855|0.3473|0.1859|0.3137|0.0747|0.2644|0.25|0.2634|0.2232|0.2872|0.3473|gnomADg_AMI|||||||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,-|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding||||||||||rs34612277|834|1||deletion|HGNC|HGNC:25284||||1|A2|CCDS53256.1|ENSP00000368717|Q494U1.135||UPI00005764FF|Q494U1-3|||||||0.1775|0.0734|0.2003|0.0853|0.2714|0.3006||||||||||0.2035|0.08855|0.3473|0.1859|0.3137|0.0747|0.2644|0.25|0.2634|0.2232|0.2872|0.3473|gnomADg_AMI|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,-|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding||||||||||rs34612277|834|1||deletion|HGNC|HGNC:25284||||2|A2|CCDS90835.1|ENSP00000368719|Q494U1.135||UPI0000D61E06|Q494U1-2|||||||0.1775|0.0734|0.2003|0.0853|0.2714|0.3006||||||||||0.2035|0.08855|0.3473|0.1859|0.3137|0.0747|0.2644|0.25|0.2634|0.2232|0.2872|0.3473|gnomADg_AMI|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGVWDASRAPRGTPDPGLGEGPALWLRSTCVYVCALSALPAGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,-|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding||||||||||rs34612277|814|1||deletion|HGNC|HGNC:25284|YES|NM_032129.3||1|P4|CCDS4.1|ENSP00000368720|Q494U1.135||UPI00001416D8|Q494U1-1|||||||0.1775|0.0734|0.2003|0.0853|0.2714|0.3006||||||||||0.2035|0.08855|0.3473|0.1859|0.3137|0.0747|0.2644|0.25|0.2634|0.2232|0.2872|0.3473|gnomADg_AMI|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,-|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000463212|retained_intron||||||||||rs34612277|3189|1||deletion|HGNC|HGNC:24023||||1||||||||||||||0.1775|0.0734|0.2003|0.0853|0.2714|0.3006||||||||||0.2035|0.08855|0.3473|0.1859|0.3137|0.0747|0.2644|0.25|0.2634|0.2232|0.2872|0.3473|gnomADg_AMI|||||||||||||,-|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000466300|nonsense_mediated_decay||||||||||rs34612277|1137|1|cds_start_NF|deletion|HGNC|HGNC:24023||||3|||ENSP00000463694||J3QLT4.45|UPI000268AE1E||||||||0.1775|0.0734|0.2003|0.0853|0.2714|0.3006||||||||||0.2035|0.08855|0.3473|0.1859|0.3137|0.0747|0.2644|0.25|0.2634|0.2232|0.2872|0.3473|gnomADg_AMI|||||||||||XLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGASPGAWGVAQQWDPLTSPVSTCPPQAAGACLPSTETVRPTTRAPTAGTWWPPCPRAGPGWEWLRWGTGSMLWAAMMGPQTWLPWSPTTP||,-|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000481067|retained_intron||||||||||rs34612277|1503|1||deletion|HGNC|HGNC:24023||||2||||||||||||||0.1775|0.0734|0.2003|0.0853|0.2714|0.3006||||||||||0.2035|0.08855|0.3473|0.1859|0.3137|0.0747|0.2644|0.25|0.2634|0.2232|0.2872|0.3473|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:12,7:0.416:19:0,0:6,3:6,4:6,6,3,4 -chr1 967376 . AC A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C1;DP=4;ECNT=2;GERMQ=42;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=46;POPAF=7.3;RPA=10,9;RU=C;STR;STRQ=10;TLOD=17.4;SRC=short_indel;GRP=s001;CSQ=-|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding||||||||||rs33930611|1658|1||deletion|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0|||||||||||||||||||||||0.8876|0.7953|0.8299|0.8744|0.9012|0.9185|0.9612|0.8221|0.9289|0.8885|0.9072|0.9612|gnomADg_FIN|||||||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,-|intron_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding||2/14|ENST00000379407.7:c.183+583del|||||||rs33930611||1||deletion|HGNC|HGNC:25284||||1|A2|CCDS53256.1|ENSP00000368717|Q494U1.135||UPI00005764FF|Q494U1-3||||||||||||||||||||||0.8876|0.7953|0.8299|0.8744|0.9012|0.9185|0.9612|0.8221|0.9289|0.8885|0.9072|0.9612|gnomADg_FIN|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,-|intron_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding||2/14|ENST00000379409.6:c.183+583del|||||||rs33930611||1||deletion|HGNC|HGNC:25284||||2|A2|CCDS90835.1|ENSP00000368719|Q494U1.135||UPI0000D61E06|Q494U1-2||||||||||||||||||||||0.8876|0.7953|0.8299|0.8744|0.9012|0.9185|0.9612|0.8221|0.9289|0.8885|0.9072|0.9612|gnomADg_FIN|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGVWDASRAPRGTPDPGLGEGPALWLRSTCVYVCALSALPAGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,-|intron_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding||2/15|ENST00000379410.8:c.183+583del|||||||rs33930611||1||deletion|HGNC|HGNC:25284|YES|NM_032129.3||1|P4|CCDS4.1|ENSP00000368720|Q494U1.135||UPI00001416D8|Q494U1-1||||||||||||||||||||||0.8876|0.7953|0.8299|0.8744|0.9012|0.9185|0.9612|0.8221|0.9289|0.8885|0.9072|0.9612|gnomADg_FIN|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,-|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000463212|retained_intron||||||||||rs33930611|4899|1||deletion|HGNC|HGNC:24023||||1|||||||||||||||||||||||||||||0.8876|0.7953|0.8299|0.8744|0.9012|0.9185|0.9612|0.8221|0.9289|0.8885|0.9072|0.9612|gnomADg_FIN|||||||||||||,-|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000466300|nonsense_mediated_decay||||||||||rs33930611|2847|1|cds_start_NF|deletion|HGNC|HGNC:24023||||3|||ENSP00000463694||J3QLT4.45|UPI000268AE1E|||||||||||||||||||||||0.8876|0.7953|0.8299|0.8744|0.9012|0.9185|0.9612|0.8221|0.9289|0.8885|0.9072|0.9612|gnomADg_FIN|||||||||||XLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGASPGAWGVAQQWDPLTSPVSTCPPQAAGACLPSTETVRPTTRAPTAGTWWPPCPRAGPGWEWLRWGTGSMLWAAMMGPQTWLPWSPTTP||,-|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000480267|retained_intron||||||||||rs33930611|3498|1||deletion|HGNC|HGNC:25284||||3|||||||||||||||||||||||||||||0.8876|0.7953|0.8299|0.8744|0.9012|0.9185|0.9612|0.8221|0.9289|0.8885|0.9072|0.9612|gnomADg_FIN|||||||||||||,-|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000481067|retained_intron||||||||||rs33930611|3213|1||deletion|HGNC|HGNC:24023||||2|||||||||||||||||||||||||||||0.8876|0.7953|0.8299|0.8744|0.9012|0.9185|0.9612|0.8221|0.9289|0.8885|0.9072|0.9612|gnomADg_FIN|||||||||||||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000112|promoter||||||||||rs33930611||||deletion|||||||||||||||||||||||||||||||||||0.8876|0.7953|0.8299|0.8744|0.9012|0.9185|0.9612|0.8221|0.9289|0.8885|0.9072|0.9612|gnomADg_FIN||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,4:0.8:4:0,0:0,3:0,3:0|1:967376_AC_A:967376:0,0,3,1 -chr1 969377 . A ATG . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C3;DP=5;ECNT=1;GERMQ=40;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=52;POPAF=7.3;RPA=3,4;RU=TG;STR;STRQ=93;TLOD=17.13;SRC=short_indel;GRP=s001;CSQ=TG|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding||||||||||rs56411007|3658|1||insertion|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0||||||||0.9036|0.9682|0.8919|0.9008|0.839|0.8937||||||||||0.8633|0.9255|0.8407|0.8947|0.8891|0.8967|0.791|0.8703|0.8239|0.8512|0.8992|0.9682|AFR|||||||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,TG|intron_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding||2/14|ENST00000379407.7:c.184-895_184-894dup|||||||rs56411007||1||insertion|HGNC|HGNC:25284||||1|A2|CCDS53256.1|ENSP00000368717|Q494U1.135||UPI00005764FF|Q494U1-3|||||||0.9036|0.9682|0.8919|0.9008|0.839|0.8937||||||||||0.8633|0.9255|0.8407|0.8947|0.8891|0.8967|0.791|0.8703|0.8239|0.8512|0.8992|0.9682|AFR|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,TG|intron_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding||2/14|ENST00000379409.6:c.184-895_184-894dup|||||||rs56411007||1||insertion|HGNC|HGNC:25284||||2|A2|CCDS90835.1|ENSP00000368719|Q494U1.135||UPI0000D61E06|Q494U1-2|||||||0.9036|0.9682|0.8919|0.9008|0.839|0.8937||||||||||0.8633|0.9255|0.8407|0.8947|0.8891|0.8967|0.791|0.8703|0.8239|0.8512|0.8992|0.9682|AFR|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGVWDASRAPRGTPDPGLGEGPALWLRSTCVYVCALSALPAGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,TG|intron_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding||2/15|ENST00000379410.8:c.184-895_184-894dup|||||||rs56411007||1||insertion|HGNC|HGNC:25284|YES|NM_032129.3||1|P4|CCDS4.1|ENSP00000368720|Q494U1.135||UPI00001416D8|Q494U1-1|||||||0.9036|0.9682|0.8919|0.9008|0.839|0.8937||||||||||0.8633|0.9255|0.8407|0.8947|0.8891|0.8967|0.791|0.8703|0.8239|0.8512|0.8992|0.9682|AFR|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,TG|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000466300|nonsense_mediated_decay||||||||||rs56411007|4847|1|cds_start_NF|insertion|HGNC|HGNC:24023||||3|||ENSP00000463694||J3QLT4.45|UPI000268AE1E||||||||0.9036|0.9682|0.8919|0.9008|0.839|0.8937||||||||||0.8633|0.9255|0.8407|0.8947|0.8891|0.8967|0.791|0.8703|0.8239|0.8512|0.8992|0.9682|AFR|||||||||||XLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGASPGAWGVAQQWDPLTSPVSTCPPQAAGACLPSTETVRPTTRAPTAGTWWPPCPRAGPGWEWLRWGTGSMLWAAMMGPQTWLPWSPTTP||,TG|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000480267|retained_intron||||||||||rs56411007|1497|1||insertion|HGNC|HGNC:25284||||3||||||||||||||0.9036|0.9682|0.8919|0.9008|0.839|0.8937||||||||||0.8633|0.9255|0.8407|0.8947|0.8891|0.8967|0.791|0.8703|0.8239|0.8512|0.8992|0.9682|AFR|||||||||||||,TG|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000491024|protein_coding||||||||||rs56411007|4134|1|cds_start_NF|insertion|HGNC|HGNC:25284||||3|||ENSP00000462558||J3KSM5.48|UPI000268AE1F||||||||0.9036|0.9682|0.8919|0.9008|0.839|0.8937||||||||||0.8633|0.9255|0.8407|0.8947|0.8891|0.8967|0.791|0.8703|0.8239|0.8512|0.8992|0.9682|AFR|||||||||||SLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.8:5:0,1:0,2:0,3:0,0,2,3 -chr1 969663 . CAT C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=34;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=67;POPAF=7.3;RPA=2,1;RU=AT;STR;STRQ=93;TLOD=8.7;SRC=short_indel;GRP=s001;CSQ=-|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding||||||||||rs201793107|3945|1||deletion|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0||||||||0.1729|0.062|0.1988|0.0833|0.2565|0.3108||||||||||0.192|0.07741|0.3259|0.1881|0.2999|0.07787|0.2555|0.2611|0.2446|0.2242|0.2943|0.3259|gnomADg_AMI|||||||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,-|intron_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding||2/14|ENST00000379407.7:c.184-611_184-610del|||||||rs201793107||1||deletion|HGNC|HGNC:25284||||1|A2|CCDS53256.1|ENSP00000368717|Q494U1.135||UPI00005764FF|Q494U1-3|||||||0.1729|0.062|0.1988|0.0833|0.2565|0.3108||||||||||0.192|0.07741|0.3259|0.1881|0.2999|0.07787|0.2555|0.2611|0.2446|0.2242|0.2943|0.3259|gnomADg_AMI|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,-|intron_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding||2/14|ENST00000379409.6:c.184-611_184-610del|||||||rs201793107||1||deletion|HGNC|HGNC:25284||||2|A2|CCDS90835.1|ENSP00000368719|Q494U1.135||UPI0000D61E06|Q494U1-2|||||||0.1729|0.062|0.1988|0.0833|0.2565|0.3108||||||||||0.192|0.07741|0.3259|0.1881|0.2999|0.07787|0.2555|0.2611|0.2446|0.2242|0.2943|0.3259|gnomADg_AMI|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGVWDASRAPRGTPDPGLGEGPALWLRSTCVYVCALSALPAGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,-|intron_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding||2/15|ENST00000379410.8:c.184-611_184-610del|||||||rs201793107||1||deletion|HGNC|HGNC:25284|YES|NM_032129.3||1|P4|CCDS4.1|ENSP00000368720|Q494U1.135||UPI00001416D8|Q494U1-1|||||||0.1729|0.062|0.1988|0.0833|0.2565|0.3108||||||||||0.192|0.07741|0.3259|0.1881|0.2999|0.07787|0.2555|0.2611|0.2446|0.2242|0.2943|0.3259|gnomADg_AMI|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,-|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000480267|retained_intron||||||||||rs201793107|1210|1||deletion|HGNC|HGNC:25284||||3||||||||||||||0.1729|0.062|0.1988|0.0833|0.2565|0.3108||||||||||0.192|0.07741|0.3259|0.1881|0.2999|0.07787|0.2555|0.2611|0.2446|0.2242|0.2943|0.3259|gnomADg_AMI|||||||||||||,-|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000491024|protein_coding||||||||||rs201793107|3847|1|cds_start_NF|deletion|HGNC|HGNC:25284||||3|||ENSP00000462558||J3KSM5.48|UPI000268AE1F||||||||0.1729|0.062|0.1988|0.0833|0.2565|0.3108||||||||||0.192|0.07741|0.3259|0.1881|0.2999|0.07787|0.2555|0.2611|0.2446|0.2242|0.2943|0.3259|gnomADg_AMI|||||||||||SLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 975492 . GCT G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=3%2C4|1%2C1;DP=9;ECNT=3;GERMQ=31;MBQ=35,33;MFRL=0,0;MMQ=60,60;MPOS=57;POPAF=7.3;RPA=2,1;RU=CT;STR;STRQ=93;TLOD=7.52;SRC=short_indel;GRP=s001;CSQ=-|3_prime_UTR_variant|MODIFIER|PERM1|ENSG00000187642|Transcript|ENST00000341290|protein_coding|5/5||ENST00000341290.6:c.*678_*679del||2745-2746|||||||-1||deletion|HGNC|HGNC:28208||||2|A2|CCDS90836.1|ENSP00000343864|Q5SV97.110||UPI000022DAF4|Q5SV97-3|||||||||||||||||||||||||||||||||||||||||||||MEPRGGGSSQFSSCPGPASSGDQMQRLLQGPAPRPPGEPPGSPKSPGHSTGSQRPPDSPGAPPRSPSRKKRRAVGAKGGGHTGASASAQTGSPLLPAASPETAKLMAKAGQEELGPGPAGAPEPGPRSPVQEDRPGPGLGLSTPVPVTEQGTDQIRTPRRAKLHTVSTTVWEALPDVSRAKSDMAVSTPASEPQPDRDMAVSTPASEPQSDRDMAVSTPASEPQPDTDMAVSTPASEPQPDRDMAVSIPASKPQSDTAVSTPASEPQSSVALSTPISKPQLDTDVAVSTPASKHGLDVALPTAGPVAKLEVASSPPVSEAVPRMTESSGLVSTPVPRADAAGLAWPPTRRAGPDVVEMEAVVSEPSAGAPGCCSGAPALGLTQVPRKKKVRFSVAGPSPNKPGSGQASARPSAPQTATGAHGGPGAWEAVAVGPRPHQPRILKHLPRPPPSAVTRVGPGSSFAVTLPEAYEFFFCDTIEENEEAEAAAAGQDPAGVQWPDMCEFFFPDVGAQRSRRRGSPEPLPRADPVPAPIPGDPVPISIPEVYEHFFFGEDRLEGVLGPAVPLPLQALEPPRSASEGAGPGTPLKPAVVERLHLALRRAGELRGPVPSFAFSQNDMCLVFVAFATWAVRTSDPHTPDAWKTALLANVGTISAIRYFRRQVGQGRRSHSPSPSS||,-|downstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding|||||||||||485|1||deletion|HGNC|HGNC:25284||||1|A2|CCDS53256.1|ENSP00000368717|Q494U1.135||UPI00005764FF|Q494U1-3|||||||||||||||||||||||||||||||||||||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,-|downstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding|||||||||||485|1||deletion|HGNC|HGNC:25284||||2|A2|CCDS90835.1|ENSP00000368719|Q494U1.135||UPI0000D61E06|Q494U1-2|||||||||||||||||||||||||||||||||||||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGVWDASRAPRGTPDPGLGEGPALWLRSTCVYVCALSALPAGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,-|3_prime_UTR_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding|16/16||ENST00000379410.8:c.*920_*921del||2804-2805|||||||1||deletion|HGNC|HGNC:25284|YES|NM_032129.3||1|P4|CCDS4.1|ENSP00000368720|Q494U1.135||UPI00001416D8|Q494U1-1|||||||||||||||||||||||||||||||||||||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,-|3_prime_UTR_variant|MODIFIER|PERM1|ENSG00000187642|Transcript|ENST00000433179|protein_coding|4/4||ENST00000433179.4:c.*678_*679del||3224-3225|||||||-1||deletion|HGNC|HGNC:28208|YES|NM_001394713.1||5|P3|CCDS76083.1|ENSP00000414022|Q5SV97.110||UPI0003E30FA7|Q5SV97-1|||||||||||||||||||||||||||||||||||||||||||||MENFQYSVQLSDQDWAEFSATADECGLLQAGLASGDELLSSDIDQGDSSGSSPPRAPPLPTGQLAAGGRSRRGCEEEDVATQQPVSRSQGEPVLALGTGQQTPSTSARAEAPPSLGPGASPPSQFSSCPGPASSGDQMQRLLQGPAPRPPGEPPGSPKSPGHSTGSQRPPDSPGAPPRSPSRKKRRAVGAKGGGHTGASASAQTGSPLLPAASPETAKLMAKAGQEELGPGPAGAPEPGPRSPVQEDRPGPGLGLSTPVPVTEQGTDQIRTPRRAKLHTVSTTVWEALPDVSRAKSDMAVSTPASEPQPDRDMAVSTPASEPQSDRDMAVSTPASEPQPDTDMAVSTPASEPQPDRDMAVSIPASKPQSDTAVSTPASEPQSSVALSTPISKPQLDTDVAVSTPASKHGLDVALPTAGPVAKLEVASSPPVSEAVPRMTESSGLVSTPVPRADAAGLAWPPTRRAGPDVVEMEAVVSEPSAGAPGCCSGAPALGLTQVPRKKKVRFSVAGPSPNKPGSGQASARPSAPQTATGAHGGPGAWEAVAVGPRPHQPRILKHLPRPPPSAVTRVGPGSSFAVTLPEAYEFFFCDTIEENEEAEAAAAGQDPAGVQWPDMCEFFFPDVGAQRSRRRGSPEPLPRADPVPAPIPGDPVPISIPEVYEHFFFGEDRLEGVLGPAVPLPLQALEPPRSASEGAGPGTPLKPAVVERLHLALRRAGELRGPVPSFAFSQNDMCLVFVAFATWAVRTSDPHTPDAWKTALLANVGTISAIRYFRRQVGQGRRSHSPSPSS||,-|non_coding_transcript_exon_variant|MODIFIER|PERM1|ENSG00000187642|Transcript|ENST00000479361|retained_intron|2/2||ENST00000479361.1:n.919_920del||919-920|||||||-1||deletion|HGNC|HGNC:28208||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|downstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000480267|retained_intron|||||||||||3970|1||deletion|HGNC|HGNC:25284||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000491024|protein_coding||4/4|ENST00000491024.1:c.*14-217_*14-216del|||||||||1|cds_start_NF|deletion|HGNC|HGNC:25284||||3|||ENSP00000462558||J3KSM5.48|UPI000268AE1F||||||||||||||||||||||||||||||||||||||||||||||SLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,-|downstream_gene_variant|MODIFIER|PERM1|ENSG00000187642|Transcript|ENST00000694917|protein_coding|||||||||||627|-1||deletion|HGNC|HGNC:28208|||||P3|CCDS76083.1|ENSP00000511592|Q5SV97.110||UPI0003E30FA7|Q5SV97-1|||||||||||||||||||||||||||||||||||||||||||||MENFQYSVQLSDQDWAEFSATADECGLLQAGLASGDELLSSDIDQGDSSGSSPPRAPPLPTGQLAAGGRSRRGCEEEDVATQQPVSRSQGEPVLALGTGQQTPSTSARAEAPPSLGPGASPPSQFSSCPGPASSGDQMQRLLQGPAPRPPGEPPGSPKSPGHSTGSQRPPDSPGAPPRSPSRKKRRAVGAKGGGHTGASASAQTGSPLLPAASPETAKLMAKAGQEELGPGPAGAPEPGPRSPVQEDRPGPGLGLSTPVPVTEQGTDQIRTPRRAKLHTVSTTVWEALPDVSRAKSDMAVSTPASEPQPDRDMAVSTPASEPQSDRDMAVSTPASEPQPDTDMAVSTPASEPQPDRDMAVSIPASKPQSDTAVSTPASEPQSSVALSTPISKPQLDTDVAVSTPASKHGLDVALPTAGPVAKLEVASSPPVSEAVPRMTESSGLVSTPVPRADAAGLAWPPTRRAGPDVVEMEAVVSEPSAGAPGCCSGAPALGLTQVPRKKKVRFSVAGPSPNKPGSGQASARPSAPQTATGAHGGPGAWEAVAVGPRPHQPRILKHLPRPPPSAVTRVGPGSSFAVTLPEAYEFFFCDTIEENEEAEAAAAGQDPAGVQWPDMCEFFFPDVGAQRSRRRGSPEPLPRADPVPAPIPGDPVPISIPEVYEHFFFGEDRLEGVLGPAVPLPLQALEPPRSASEGAGPGTPLKPAVVERLHLALRRAGELRGPVPSFAFSQNDMCLVFVAFATWAVRTSDPHTPDAWKTALLANVGTISAIRYFRRQVGQGRRSHSPSPSS|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,2:0.286:9:0,0:3,1:4,1:3,4,1,1 -chr1 998935 . CA C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C2|1%2C1;DP=6;ECNT=2;GERMQ=28;MBQ=34,34;MFRL=0,0;MMQ=60,60;MPOS=113;POPAF=7.3;RPA=3,2;RU=A;STR;STRQ=93;TLOD=5.07;SRC=short_indel;GRP=s001;CSQ=-|downstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000304952|protein_coding|||||||||||28|-1||deletion|HGNC|HGNC:24149|YES|NM_021170.4||1|P1|CCDS5.1|ENSP00000304595|Q9HCC6.164||UPI000006EC19||||||||||||||||||||||||||||||||||||||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,-|downstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000428771|protein_coding|||||||||||26|-1||deletion|HGNC|HGNC:24149||||2||CCDS44034.1|ENSP00000393198||E9PB28.82|UPI0001881B51||||||||||||||||||||||||||||||||||||||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKVGSRPGVRGATGGREGRGTQPVPDPQSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,-|downstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000481869|retained_intron|||||||||||30|-1||deletion|HGNC|HGNC:24149||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|downstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000484667|protein_coding|||||||||||34|-1||deletion|HGNC|HGNC:24149||||3||CCDS90837.1|ENSP00000425085||D6REB3.81|UPI0001D3BBEE||||||||||||||||||||||||||||||||||||||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,-|upstream_gene_variant|MODIFIER||ENSG00000272512|Transcript|ENST00000606034|lncRNA|||||||||||885|-1||deletion|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding|||||||||||2209|1|cds_end_NF|deletion|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||||||||||||||||||||||||||||||||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,-|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding|||||||||||2202|1||deletion|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||||||||||||||||||||||||||||||||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000118|promoter||||||||||||||deletion|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,2:0.4:5:0,0:2,1:2,1:1,2,1,1 -chr1 1013041 . A AAAC . germline;slippage;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=1;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=131;POPAF=7.3;RPA=3,4;RU=AAC;STR;STRQ=1;TLOD=4.19;SRC=short_indel;GRP=s001;CSQ=AAC|upstream_gene_variant|MODIFIER||ENSG00000231702|Transcript|ENST00000423619|processed_pseudogene||||||||||rs113047134|4812|-1||insertion|||YES|||||||||||||||||0.9137|0.8321|0.8977|0.9802|0.9225|0.9581||||||||||0.9328|0.8619|0.9802|0.9524|0.9118|0.9992|0.9754|0.9006|0.9581|0.9266|0.9674|0.9992|gnomADg_EAS|||||||||||||,AAC|non_coding_transcript_exon_variant|MODIFIER||ENSG00000224969|Transcript|ENST00000458555|lncRNA|1/2||ENST00000458555.1:n.150_152dup||152-153|||||rs113047134||-1||insertion|||YES|||2||||||||||||||0.9137|0.8321|0.8977|0.9802|0.9225|0.9581||||||||||0.9328|0.8619|0.9802|0.9524|0.9118|0.9992|0.9754|0.9006|0.9581|0.9266|0.9674|0.9992|gnomADg_EAS|||||||||||||,AAC|intron_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding||2/2|ENST00000624652.1:c.-21-934_-21-932dup|||||||rs113047134||1|cds_end_NF|insertion|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||0.9137|0.8321|0.8977|0.9802|0.9225|0.9581||||||||||0.9328|0.8619|0.9802|0.9524|0.9118|0.9992|0.9754|0.9006|0.9581|0.9266|0.9674|0.9992|gnomADg_EAS|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,AAC|intron_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding||2/2|ENST00000624697.4:c.-21-934_-21-932dup|||||||rs113047134||1||insertion|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||0.9137|0.8321|0.8977|0.9802|0.9225|0.9581||||||||||0.9328|0.8619|0.9802|0.9524|0.9118|0.9992|0.9754|0.9006|0.9581|0.9266|0.9674|0.9992|gnomADg_EAS|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,AAC|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000649529|protein_coding||||||||||rs113047134|455|1||insertion|HGNC|HGNC:4053|YES|NM_005101.4|||P1|CCDS6.1|ENSP00000496832|P05161.233||UPI0000048D70||1||||||0.9137|0.8321|0.8977|0.9802|0.9225|0.9581||||||||||0.9328|0.8619|0.9802|0.9524|0.9118|0.9992|0.9754|0.9006|0.9581|0.9266|0.9674|0.9992|gnomADg_EAS|||||||||||MGWDLTVKMLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,AAC|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164809|promoter||||||||||rs113047134||||insertion||||||||||||||||||||0.9137|0.8321|0.8977|0.9802|0.9225|0.9581||||||||||0.9328|0.8619|0.9802|0.9524|0.9118|0.9992|0.9754|0.9006|0.9581|0.9266|0.9674|0.9992|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 1013466 . T TA . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C1;DP=4;ECNT=3;GERMQ=39;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=80;POPAF=7.3;RPA=1,2;RU=A;STR;STRQ=93;TLOD=17.4;SRC=short_indel;GRP=s001;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000224969|Transcript|ENST00000458555|lncRNA||||||||||rs3841266|273|-1||insertion|||YES|||2||||||||||||||0.8544|0.5575|0.9366|0.9464|0.9791|0.9744||||||||||0.8639|0.5946|0.9945|0.9308|0.928|0.9509|0.9859|0.9082|0.9741|0.8819|0.9622|0.9945|gnomADg_AMI|benign||1||||||||||,A|intron_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding||2/2|ENST00000624652.1:c.-21-517dup|||||||rs3841266||1|cds_end_NF|insertion|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||0.8544|0.5575|0.9366|0.9464|0.9791|0.9744||||||||||0.8639|0.5946|0.9945|0.9308|0.928|0.9509|0.9859|0.9082|0.9741|0.8819|0.9622|0.9945|gnomADg_AMI|benign||1||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,A|intron_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding||2/2|ENST00000624697.4:c.-21-517dup|||||||rs3841266||1||insertion|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||0.8544|0.5575|0.9366|0.9464|0.9791|0.9744||||||||||0.8639|0.5946|0.9945|0.9308|0.928|0.9509|0.9859|0.9082|0.9741|0.8819|0.9622|0.9945|gnomADg_AMI|benign||1||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,A|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000649529|protein_coding||||||||||rs3841266|30|1||insertion|HGNC|HGNC:4053|YES|NM_005101.4|||P1|CCDS6.1|ENSP00000496832|P05161.233||UPI0000048D70||1||||||0.8544|0.5575|0.9366|0.9464|0.9791|0.9744||||||||||0.8639|0.5946|0.9945|0.9308|0.928|0.9509|0.9859|0.9082|0.9741|0.8819|0.9622|0.9945|gnomADg_AMI|benign||1||||||||MGWDLTVKMLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164809|promoter||||||||||rs3841266||||insertion||||||||||||||||||||0.8544|0.5575|0.9366|0.9464|0.9791|0.9744||||||||||0.8639|0.5946|0.9945|0.9308|0.928|0.9509|0.9859|0.9082|0.9741|0.8819|0.9622|0.9945|gnomADg_AMI|benign||1|||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,4:0.8:4:0,0:0,3:0,3:0|1:1013466_T_TA:1013466:0,0,3,1 -chr1 1014733 . GAAGT G . base_qual;weak_evidence AS_FilterStatus=weak_evidence,base_qual;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=19;MBQ=31,14;MFRL=0,0;MMQ=60,60;MPOS=79;POPAF=7.3;TLOD=3.72;SRC=short_indel;GRP=s001;CSQ=-|upstream_gene_variant|MODIFIER||ENSG00000224969|Transcript|ENST00000458555|lncRNA||||||||||rs3038313|1541|-1||deletion|||YES|||2||||||||||||||0.5264|0.202|0.6527|0.7589|0.5656|0.5951||||||||||0.4917|0.2746|0.5892|0.6476|0.5809|0.7459|0.4898|0.5478|0.5559|0.5279|0.5892|0.7589|EAS|||||||||||||,-|downstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding||||||||||rs3038313|299|1|cds_end_NF|deletion|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||0.5264|0.202|0.6527|0.7589|0.5656|0.5951||||||||||0.4917|0.2746|0.5892|0.6476|0.5809|0.7459|0.4898|0.5478|0.5559|0.5279|0.5892|0.7589|EAS|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,-|downstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding||||||||||rs3038313|194|1||deletion|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||0.5264|0.202|0.6527|0.7589|0.5656|0.5951||||||||||0.4917|0.2746|0.5892|0.6476|0.5809|0.7459|0.4898|0.5478|0.5559|0.5279|0.5892|0.7589|EAS|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,-|downstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000649529|protein_coding||||||||||rs3038313|194|1||deletion|HGNC|HGNC:4053|YES|NM_005101.4|||P1|CCDS6.1|ENSP00000496832|P05161.233||UPI0000048D70||1||||||0.5264|0.202|0.6527|0.7589|0.5656|0.5951||||||||||0.4917|0.2746|0.5892|0.6476|0.5809|0.7459|0.4898|0.5478|0.5559|0.5279|0.5892|0.7589|EAS|||||||||||MGWDLTVKMLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164809|promoter||||||||||rs3038313||||deletion||||||||||||||||||||0.5264|0.202|0.6527|0.7589|0.5656|0.5951||||||||||0.4917|0.2746|0.5892|0.6476|0.5809|0.7459|0.4898|0.5478|0.5559|0.5279|0.5892|0.7589|EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,1:0.5:2:0,0:0,0:1,1:0,1,0,1 -chr1 1039411 . T TG,TGG . PASS AS_FilterStatus=SITE|SITE;AS_SB_TABLE=0%2C0|2%2C2|2%2C2;DP=8;ECNT=1;GERMQ=22;MBQ=0,30,32;MFRL=0,0,0;MMQ=60,60,60;MPOS=55,84;POPAF=7.3,7.3;RPA=8,9,10;RU=G;STR;STRQ=7;TLOD=10.1,10.18;SRC=short_indel;GRP=s001;CSQ=G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||3/35|ENST00000379370.7:c.512-1246dup|||||||rs36095704||1||insertion|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1|||||||||||||||||||||0.01196|0.03836|0|0.005717|0.0002921|0.004384|0.005668|0.006329|0.0008797|0.006823|0.0004308|0.03836|gnomADg_AFR|||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,GG|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||3/35|ENST00000379370.7:c.512-1247_512-1246dup|||||||rs36095704||1||insertion|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.8201|0.5295|0.889|0.9911|0.8608|0.9458||||||||||0.531|0.3479|0.6127|0.6699|0.5892|0.8137|0.5708|0.5348|0.5748|0.5448|0.5675|0.9911|EAS|||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant&non_coding_transcript_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||1/2|ENST00000469403.1:n.459-1246dup|||||||rs36095704||1||insertion|HGNC|HGNC:329||||3||||||||1|||||||||||||||||||||0.01196|0.03836|0|0.005717|0.0002921|0.004384|0.005668|0.006329|0.0008797|0.006823|0.0004308|0.03836|gnomADg_AFR|||||||||||||,GG|intron_variant&non_coding_transcript_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||1/2|ENST00000469403.1:n.459-1247_459-1246dup|||||||rs36095704||1||insertion|HGNC|HGNC:329||||3||||||||1||||||0.8201|0.5295|0.889|0.9911|0.8608|0.9458||||||||||0.531|0.3479|0.6127|0.6699|0.5892|0.8137|0.5708|0.5348|0.5748|0.5448|0.5675|0.9911|EAS|||||||||||||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||3/38|ENST00000620552.4:c.98-1246dup|||||||rs36095704||1||insertion|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1|||||||||||||||||||||0.01196|0.03836|0|0.005717|0.0002921|0.004384|0.005668|0.006329|0.0008797|0.006823|0.0004308|0.03836|gnomADg_AFR|||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,GG|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||3/38|ENST00000620552.4:c.98-1247_98-1246dup|||||||rs36095704||1||insertion|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.8201|0.5295|0.889|0.9911|0.8608|0.9458||||||||||0.531|0.3479|0.6127|0.6699|0.5892|0.8137|0.5708|0.5348|0.5748|0.5448|0.5675|0.9911|EAS|||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||2/37|ENST00000651234.1:c.197-1246dup|||||||rs36095704||1||insertion|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1|||||||||||||||||||||0.01196|0.03836|0|0.005717|0.0002921|0.004384|0.005668|0.006329|0.0008797|0.006823|0.0004308|0.03836|gnomADg_AFR|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,GG|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||2/37|ENST00000651234.1:c.197-1247_197-1246dup|||||||rs36095704||1||insertion|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.8201|0.5295|0.889|0.9911|0.8608|0.9458||||||||||0.531|0.3479|0.6127|0.6699|0.5892|0.8137|0.5708|0.5348|0.5748|0.5448|0.5675|0.9911|EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||2/34|ENST00000652369.1:c.197-1246dup|||||||rs36095704||1||insertion|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1|||||||||||||||||||||0.01196|0.03836|0|0.005717|0.0002921|0.004384|0.005668|0.006329|0.0008797|0.006823|0.0004308|0.03836|gnomADg_AFR|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,GG|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||2/34|ENST00000652369.1:c.197-1247_197-1246dup|||||||rs36095704||1||insertion|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.8201|0.5295|0.889|0.9911|0.8608|0.9458||||||||||0.531|0.3479|0.6127|0.6699|0.5892|0.8137|0.5708|0.5348|0.5748|0.5448|0.5675|0.9911|EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1/2:0,4,4:0.429,0.429:8:0,0,0:0,2,2:0,2,2:0,0,4,4 -chr1 1042767 . AG A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4%2C2|2%2C1;DP=9;ECNT=1;GERMQ=29;MBQ=31,33;MFRL=0,0;MMQ=60,60;MPOS=45;POPAF=7.3;RPA=7,6;RU=G;STR;STRQ=93;TLOD=7.33;SRC=short_indel;GRP=s001;CSQ=-|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||7/35|ENST00000379370.7:c.1385-465del|||||||rs370972452||1||deletion|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1|||||||||||||||||||||3.957e-05|0.0001455|0|0|0|0|0|0|0|0|0|0.0001455|gnomADg_AFR|||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,-|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000466223|retained_intron||||||||||rs370972452|4433|1||deletion|HGNC|HGNC:329||||2||||||||1|||||||||||||||||||||3.957e-05|0.0001455|0|0|0|0|0|0|0|0|0|0.0001455|gnomADg_AFR|||||||||||||,-|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||||||||||rs370972452|1371|1||deletion|HGNC|HGNC:329||||3||||||||1|||||||||||||||||||||3.957e-05|0.0001455|0|0|0|0|0|0|0|0|0|0.0001455|gnomADg_AFR|||||||||||||,-|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000478677|retained_intron||||||||||rs370972452|4707|1||deletion|HGNC|HGNC:329||||2||||||||1|||||||||||||||||||||3.957e-05|0.0001455|0|0|0|0|0|0|0|0|0|0.0001455|gnomADg_AFR|||||||||||||,-|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000479707|retained_intron||||||||||rs370972452|2631|1||deletion|HGNC|HGNC:329||||3||||||||1|||||||||||||||||||||3.957e-05|0.0001455|0|0|0|0|0|0|0|0|0|0.0001455|gnomADg_AFR|||||||||||||,-|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||7/38|ENST00000620552.4:c.971-465del|||||||rs370972452||1||deletion|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1|||||||||||||||||||||3.957e-05|0.0001455|0|0|0|0|0|0|0|0|0|0.0001455|gnomADg_AFR|||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,-|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||6/37|ENST00000651234.1:c.1070-465del|||||||rs370972452||1||deletion|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1|||||||||||||||||||||3.957e-05|0.0001455|0|0|0|0|0|0|0|0|0|0.0001455|gnomADg_AFR|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,-|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||6/34|ENST00000652369.1:c.1070-465del|||||||rs370972452||1||deletion|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1|||||||||||||||||||||3.957e-05|0.0001455|0|0|0|0|0|0|0|0|0|0.0001455|gnomADg_AFR|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,3:0.375:9:0,0:4,2:4,2:4,2,2,1 -chr1 1052857 . ATG A . slippage AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=34;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=71;POPAF=7.3;RPA=4,3;RU=TG;STR;STRQ=1;TLOD=7.99;SRC=short_indel;GRP=s001;CSQ=-|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||33/35|ENST00000379370.7:c.5652-888_5652-887del|||||||rs1490716902||1||deletion|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||||||||||||||||||||||||||||||||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,-|upstream_gene_variant|MODIFIER||ENSG00000242590|Transcript|ENST00000418300|lncRNA||||||||||rs1490716902|2174|1||deletion|||YES|||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|non_coding_transcript_exon_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000461111|retained_intron|1/3||ENST00000461111.1:n.880_881del||873-874|||||rs1490716902||1||deletion|HGNC|HGNC:329||||1||||||||1||||||||||||||||||||||||||||||||||||||||||||||,-|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000466223|retained_intron||||||||||rs1490716902|4993|1||deletion|HGNC|HGNC:329||||2||||||||1||||||||||||||||||||||||||||||||||||||||||||||,-|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000492947|retained_intron||||||||||rs1490716902|3464|1||deletion|HGNC|HGNC:329||||2||||||||1||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||35/38|ENST00000620552.4:c.5274-596_5274-595del|||||||rs1490716902||1||deletion|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||||||||||||||||||||||||||||||||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,-|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||34/37|ENST00000651234.1:c.5373-596_5373-595del|||||||rs1490716902||1||deletion|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||||||||||||||||||||||||||||||||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,-|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||32/34|ENST00000652369.1:c.5337-888_5337-887del|||||||rs1490716902||1||deletion|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||||||||||||||||||||||||||||||||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1066505 . TG T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=6%2C5|1%2C1;DP=13;ECNT=1;GERMQ=41;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=58;POPAF=7.3;RPA=5,4;RU=G;STR;STRQ=93;TLOD=4.58;SRC=short_indel;GRP=s001;CSQ=-|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA|||||||||||47|1||deletion||||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene||5/9|ENST00000412397.2:n.627-77del|||||||||1||deletion|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA|||||||||||50|1||deletion||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000433695|lncRNA|||||||||||232|1||deletion||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000273443|Transcript|ENST00000442292|lncRNA|||||||||||3218|-1||deletion|||YES|||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000451054|lncRNA|||||||||||65|1||deletion||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|downstream_gene_variant|MODIFIER|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding|||||||||||4461|-1||deletion|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF||||||||||||||||||||||||||||||||||||||||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN||,-|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA|||||||||||50|1||deletion|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA|||||||||||53|1||deletion||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA|||||||||||57|1||deletion||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA|||||||||||65|1||deletion||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA|||||||||||55|1||deletion||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA|||||||||||124|1||deletion|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:11,2:0.182:13:0,0:5,1:8,1:6,5,1,1 -chr1 1071750 . GC G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=4%2C8|1%2C2;DP=15;ECNT=4;GERMQ=39;MBQ=35,35;MFRL=0,0;MMQ=60,60;MPOS=98;POPAF=7.3;RPA=6,5;RU=C;STR;STRQ=93;TLOD=6.74;SRC=short_indel;GRP=s001;CSQ=-|downstream_gene_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene||||||||||rs1444048512|2396|1||deletion|||YES||||||||||||||||||||||||||||||||1.314e-05|0|0|0|0|0.0003852|0|0|0|0|0|0.0003852|gnomADg_EAS|||||||||||||,-|3_prime_UTR_variant|MODIFIER|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding|2/2||ENST00000453464.3:c.*66del||1116|||||rs1444048512||-1||deletion|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF|||||||||||||||||||||||1.314e-05|0|0|0|0|0.0003852|0|0|0|0|0|0.0003852|gnomADg_EAS|||||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:12,3:0.231:15:0,0:3,1:9,2:4,8,1,2 -chr1 1071872 . C CG . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C1;DP=4;ECNT=4;GERMQ=36;MBQ=0,29;MFRL=0,0;MMQ=60,60;MPOS=62;POPAF=7.3;RPA=7,8;RU=G;STR;STRQ=93;TLOD=7.2;SRC=short_indel;GRP=s001;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene||||||||||rs771408178|2517|1||insertion|||YES|||||||||||||||||||||||0.0002023|0|0.0005754|0.0001448|0.0001515|0.0002121|5.236e-05|0|0.0002817|7.329e-06|0|0|0|0.0003073|0|0|0|0|0|0|0.0005754|gnomADe_AMR|||||||||||||,G|frameshift_variant|HIGH|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding|2/2||ENST00000453464.3:c.694dup|ENSP00000410533.1:p.Arg232ProfsTer17|994-995|694-695|232|R/PX|cgg/cCgg|rs771408178||-1||insertion|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF||||||||||||||0.0002023|0|0.0005754|0.0001448|0.0001515|0.0002121|5.236e-05|0|0.0002817|7.329e-06|0|0|0|0.0003073|0|0|0|0|0|0|0.0005754|gnomADe_AMR||||||||||NMD_escaping_variant|MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN|PAPGHQHSRLPPRASD|-1 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.764:3:0,0:0,2:0,2:0,0,2,1 -chr1 1085543 . A AG . weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=26;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=40;POPAF=7.3;TLOD=3.26;SRC=short_indel;GRP=s001;CSQ=G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379319|protein_coding||7/9|ENST00000379319.5:c.445+334_445+335insC|||||||rs70949550||-1||insertion|HGNC|HGNC:26062||||5|P1|CCDS7.2|ENSP00000368623|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||0.7041|0.4728|0.7839|0.8968|0.7366|0.728||||||||||0.6855|0.5419|0.7445|0.7682|0.8063|0.8693|0.769|0.7229|0.7169|0.7153|0.7191|0.8968|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379320|protein_coding||5/7|ENST00000379320.5:c.445+334_445+335insC|||||||rs70949550||-1||insertion|HGNC|HGNC:26062||||2||CCDS85917.1|ENSP00000368624||Q5T2W9.107|UPI0000205ACE||||||||0.7041|0.4728|0.7839|0.8968|0.7366|0.728||||||||||0.6855|0.5419|0.7445|0.7682|0.8063|0.8693|0.769|0.7229|0.7169|0.7153|0.7191|0.8968|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,G|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay||7/10|ENST00000379325.7:c.445+334_445+335insC|||||||rs70949550||-1||insertion|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||0.7041|0.4728|0.7839|0.8968|0.7366|0.728||||||||||0.6855|0.5419|0.7445|0.7682|0.8063|0.8693|0.769|0.7229|0.7169|0.7153|0.7191|0.8968|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding||9/11|ENST00000379339.5:c.553+334_553+335insC|||||||rs70949550||-1||insertion|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||0.7041|0.4728|0.7839|0.8968|0.7366|0.728||||||||||0.6855|0.5419|0.7445|0.7682|0.8063|0.8693|0.769|0.7229|0.7169|0.7153|0.7191|0.8968|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding||7/9|ENST00000421241.7:c.445+334_445+335insC|||||||rs70949550||-1||insertion|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||0.7041|0.4728|0.7839|0.8968|0.7366|0.728||||||||||0.6855|0.5419|0.7445|0.7682|0.8063|0.8693|0.769|0.7229|0.7169|0.7153|0.7191|0.8968|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,G|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000427787|protein_coding||||||||||rs70949550|4862|-1|cds_end_NF|insertion|HGNC|HGNC:26062||||5|||ENSP00000395935||B2REC5.64|UPI000173DCFE||||||||0.7041|0.4728|0.7839|0.8968|0.7366|0.728||||||||||0.6855|0.5419|0.7445|0.7682|0.8063|0.8693|0.769|0.7229|0.7169|0.7153|0.7191|0.8968|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLC||,G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||7/10|ENST00000434641.5:c.445+334_445+335insC|||||||rs70949550||-1|cds_end_NF|insertion|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||0.7041|0.4728|0.7839|0.8968|0.7366|0.728||||||||||0.6855|0.5419|0.7445|0.7682|0.8063|0.8693|0.769|0.7229|0.7169|0.7153|0.7191|0.8968|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,G|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000442117|protein_coding||||||||||rs70949550|2031|-1|cds_end_NF|insertion|HGNC|HGNC:26062||||5|||ENSP00000416740||B2REC4.74|UPI000173DCFD||||||||0.7041|0.4728|0.7839|0.8968|0.7366|0.728||||||||||0.6855|0.5419|0.7445|0.7682|0.8063|0.8693|0.769|0.7229|0.7169|0.7153|0.7191|0.8968|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNA||,G|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding||||||||||rs70949550|1595|-1|cds_end_NF|insertion|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20||||||||0.7041|0.4728|0.7839|0.8968|0.7366|0.728||||||||||0.6855|0.5419|0.7445|0.7682|0.8063|0.8693|0.769|0.7229|0.7169|0.7153|0.7191|0.8968|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,G|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000464905|protein_coding_CDS_not_defined||||||||||rs70949550|1471|-1||insertion|HGNC|HGNC:26062||||3||||||||||||||0.7041|0.4728|0.7839|0.8968|0.7366|0.728||||||||||0.6855|0.5419|0.7445|0.7682|0.8063|0.8693|0.769|0.7229|0.7169|0.7153|0.7191|0.8968|EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000465822|retained_intron||6/8|ENST00000465822.5:n.555-234_555-233insC|||||||rs70949550||-1||insertion|HGNC|HGNC:26062||||2||||||||||||||0.7041|0.4728|0.7839|0.8968|0.7366|0.728||||||||||0.6855|0.5419|0.7445|0.7682|0.8063|0.8693|0.769|0.7229|0.7169|0.7153|0.7191|0.8968|EAS|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay||8/11|ENST00000467751.5:c.*206+334_*206+335insC|||||||rs70949550||-1||insertion|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||0.7041|0.4728|0.7839|0.8968|0.7366|0.728||||||||||0.6855|0.5419|0.7445|0.7682|0.8063|0.8693|0.769|0.7229|0.7169|0.7153|0.7191|0.8968|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,G|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000473600|retained_intron||||||||||rs70949550|1597|-1||insertion|HGNC|HGNC:26062||||3||||||||||||||0.7041|0.4728|0.7839|0.8968|0.7366|0.728||||||||||0.6855|0.5419|0.7445|0.7682|0.8063|0.8693|0.769|0.7229|0.7169|0.7153|0.7191|0.8968|EAS|||||||||||||,G|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding||||||||||rs70949550|1646|-1|cds_end_NF|insertion|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21||||||||0.7041|0.4728|0.7839|0.8968|0.7366|0.728||||||||||0.6855|0.5419|0.7445|0.7682|0.8063|0.8693|0.769|0.7229|0.7169|0.7153|0.7191|0.8968|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,G|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay||7/9|ENST00000477196.5:c.*1094+334_*1094+335insC|||||||rs70949550||-1||insertion|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||0.7041|0.4728|0.7839|0.8968|0.7366|0.728||||||||||0.6855|0.5419|0.7445|0.7682|0.8063|0.8693|0.769|0.7229|0.7169|0.7153|0.7191|0.8968|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,G|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||7/9|ENST00000482816.5:n.764+334_764+335insC|||||||rs70949550||-1||insertion|HGNC|HGNC:26062||||5||||||||||||||0.7041|0.4728|0.7839|0.8968|0.7366|0.728||||||||||0.6855|0.5419|0.7445|0.7682|0.8063|0.8693|0.769|0.7229|0.7169|0.7153|0.7191|0.8968|EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000487177|retained_intron||2/2|ENST00000487177.5:n.633+334_633+335insC|||||||rs70949550||-1||insertion|HGNC|HGNC:26062||||2||||||||||||||0.7041|0.4728|0.7839|0.8968|0.7366|0.728||||||||||0.6855|0.5419|0.7445|0.7682|0.8063|0.8693|0.769|0.7229|0.7169|0.7153|0.7191|0.8968|EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,1:0.5:2:1,0:0,0:1,1:0,1,0,1 -chr1 1095242 . C CA . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|0%2C2;DP=5;ECNT=2;GERMQ=25;MBQ=31,33;MFRL=0,0;MMQ=60,60;MPOS=59;POPAF=7.3;RPA=6,7;RU=A;STR;STRQ=93;TLOD=5.14;SRC=short_indel;GRP=s001;CSQ=A|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379319|protein_coding||1/9|ENST00000379319.5:c.-135-3140dup|||||||rs1645994608||-1||insertion|HGNC|HGNC:26062||||5|P1|CCDS7.2|ENSP00000368623|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4||||||||||||||||||||||6.572e-06|0|0|0|0|0|0|0|0|0|0.0002073|0.0002073|gnomADg_SAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,A|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379320|protein_coding||||||||||rs1645994608|3068|-1||insertion|HGNC|HGNC:26062||||2||CCDS85917.1|ENSP00000368624||Q5T2W9.107|UPI0000205ACE|||||||||||||||||||||||6.572e-06|0|0|0|0|0|0|0|0|0|0.0002073|0.0002073|gnomADg_SAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,A|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay||1/10|ENST00000379325.7:c.-135-3140dup|||||||rs1645994608||-1||insertion|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3||||||||||||||||||||||6.572e-06|0|0|0|0|0|0|0|0|0|0.0002073|0.0002073|gnomADg_SAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,A|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding||2/11|ENST00000379339.5:c.-135-3140dup|||||||rs1645994608||-1||insertion|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1||||||||||||||||||||||6.572e-06|0|0|0|0|0|0|0|0|0|0.0002073|0.0002073|gnomADg_SAS|||||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,A|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding||1/9|ENST00000421241.7:c.-135-3140dup|||||||rs1645994608||-1||insertion|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4||||||||||||||||||||||6.572e-06|0|0|0|0|0|0|0|0|0|0.0002073|0.0002073|gnomADg_SAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,A|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000427787|protein_coding||||||||||rs1645994608|2429|-1|cds_end_NF|insertion|HGNC|HGNC:26062||||5|||ENSP00000395935||B2REC5.64|UPI000173DCFE|||||||||||||||||||||||6.572e-06|0|0|0|0|0|0|0|0|0|0.0002073|0.0002073|gnomADg_SAS|||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLC||,A|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||1/10|ENST00000434641.5:c.-135-3140dup|||||||rs1645994608||-1|cds_end_NF|insertion|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17|||||||||||||||||||||||6.572e-06|0|0|0|0|0|0|0|0|0|0.0002073|0.0002073|gnomADg_SAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,A|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000442117|protein_coding||||||||||rs1645994608|2429|-1|cds_end_NF|insertion|HGNC|HGNC:26062||||5|||ENSP00000416740||B2REC4.74|UPI000173DCFD|||||||||||||||||||||||6.572e-06|0|0|0|0|0|0|0|0|0|0.0002073|0.0002073|gnomADg_SAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNA||,A|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding||2/6|ENST00000462097.5:c.-135-3140dup|||||||rs1645994608||-1|cds_end_NF|insertion|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20|||||||||||||||||||||||6.572e-06|0|0|0|0|0|0|0|0|0|0.0002073|0.0002073|gnomADg_SAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,A|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000465822|retained_intron||||||||||rs1645994608|3165|-1||insertion|HGNC|HGNC:26062||||2|||||||||||||||||||||||||||||6.572e-06|0|0|0|0|0|0|0|0|0|0.0002073|0.0002073|gnomADg_SAS|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay||1/11|ENST00000467751.5:c.-135-3140dup|||||||rs1645994608||-1||insertion|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB|||||||||||||||||||||||6.572e-06|0|0|0|0|0|0|0|0|0|0.0002073|0.0002073|gnomADg_SAS|||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,A|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000472741|retained_intron||1/2|ENST00000472741.5:n.29-3140dup|||||||rs1645994608||-1||insertion|HGNC|HGNC:26062||||4|||||||||||||||||||||||||||||6.572e-06|0|0|0|0|0|0|0|0|0|0.0002073|0.0002073|gnomADg_SAS|||||||||||||,A|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000473600|retained_intron||||||||||rs1645994608|2948|-1||insertion|HGNC|HGNC:26062||||3|||||||||||||||||||||||||||||6.572e-06|0|0|0|0|0|0|0|0|0|0.0002073|0.0002073|gnomADg_SAS|||||||||||||,A|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding||1/5|ENST00000475119.5:c.-179-3140dup|||||||rs1645994608||-1|cds_end_NF|insertion|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21|||||||||||||||||||||||6.572e-06|0|0|0|0|0|0|0|0|0|0.0002073|0.0002073|gnomADg_SAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,A|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay||1/9|ENST00000477196.5:c.-135-3140dup|||||||rs1645994608||-1||insertion|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028|||||||||||||||||||||||6.572e-06|0|0|0|0|0|0|0|0|0|0.0002073|0.0002073|gnomADg_SAS|||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,A|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000480643|protein_coding||4/5|ENST00000480643.1:c.-135-3140dup|||||||rs1645994608||-1|cds_end_NF|insertion|HGNC|HGNC:26062||||4|||ENSP00000464657||J3QSF0.36|UPI0003F48015|||||||||||||||||||||||6.572e-06|0|0|0|0|0|0|0|0|0|0.0002073|0.0002073|gnomADg_SAS|||||||||||MALRHLALLAGLLV||,A|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||1/9|ENST00000482816.5:n.185-3140dup|||||||rs1645994608||-1||insertion|HGNC|HGNC:26062||||5|||||||||||||||||||||||||||||6.572e-06|0|0|0|0|0|0|0|0|0|0.0002073|0.0002073|gnomADg_SAS|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000285812|Transcript|ENST00000648183|lncRNA||||||||||rs1645994608|2342|1||insertion|||YES||||||||||||||||||||||||||||||||6.572e-06|0|0|0|0|0|0|0|0|0|0.0002073|0.0002073|gnomADg_SAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.6:4:0,0:1,1:1,2:1,1,0,2 -chr1 1097893 . C CT . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=33;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=78;POPAF=7.3;RPA=6,7;RU=T;STR;STRQ=93;TLOD=5.92;SRC=short_indel;GRP=s001;CSQ=T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379319|protein_coding||1/9|ENST00000379319.5:c.-135-5791dup|||||||rs895171838||-1||insertion|HGNC|HGNC:26062||||5|P1|CCDS7.2|ENSP00000368623|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4||||||||||||||||||||||6.585e-06|2.419e-05|0|0|0|0|0|0|0|0|0|2.419e-05|gnomADg_AFR|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay||1/10|ENST00000379325.7:c.-135-5791dup|||||||rs895171838||-1||insertion|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3||||||||||||||||||||||6.585e-06|2.419e-05|0|0|0|0|0|0|0|0|0|2.419e-05|gnomADg_AFR|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding||2/11|ENST00000379339.5:c.-135-5791dup|||||||rs895171838||-1||insertion|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1||||||||||||||||||||||6.585e-06|2.419e-05|0|0|0|0|0|0|0|0|0|2.419e-05|gnomADg_AFR|||||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding||1/9|ENST00000421241.7:c.-135-5791dup|||||||rs895171838||-1||insertion|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4||||||||||||||||||||||6.585e-06|2.419e-05|0|0|0|0|0|0|0|0|0|2.419e-05|gnomADg_AFR|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||1/10|ENST00000434641.5:c.-135-5791dup|||||||rs895171838||-1|cds_end_NF|insertion|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17|||||||||||||||||||||||6.585e-06|2.419e-05|0|0|0|0|0|0|0|0|0|2.419e-05|gnomADg_AFR|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding||2/6|ENST00000462097.5:c.-135-5791dup|||||||rs895171838||-1|cds_end_NF|insertion|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20|||||||||||||||||||||||6.585e-06|2.419e-05|0|0|0|0|0|0|0|0|0|2.419e-05|gnomADg_AFR|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,T|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay||1/11|ENST00000467751.5:c.-135-5791dup|||||||rs895171838||-1||insertion|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB|||||||||||||||||||||||6.585e-06|2.419e-05|0|0|0|0|0|0|0|0|0|2.419e-05|gnomADg_AFR|||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,T|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000472741|retained_intron||1/2|ENST00000472741.5:n.29-5791dup|||||||rs895171838||-1||insertion|HGNC|HGNC:26062||||4|||||||||||||||||||||||||||||6.585e-06|2.419e-05|0|0|0|0|0|0|0|0|0|2.419e-05|gnomADg_AFR|||||||||||||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding||1/5|ENST00000475119.5:c.-179-5791dup|||||||rs895171838||-1|cds_end_NF|insertion|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21|||||||||||||||||||||||6.585e-06|2.419e-05|0|0|0|0|0|0|0|0|0|2.419e-05|gnomADg_AFR|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,T|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay||1/9|ENST00000477196.5:c.-135-5791dup|||||||rs895171838||-1||insertion|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028|||||||||||||||||||||||6.585e-06|2.419e-05|0|0|0|0|0|0|0|0|0|2.419e-05|gnomADg_AFR|||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000480643|protein_coding||4/5|ENST00000480643.1:c.-135-5791dup|||||||rs895171838||-1|cds_end_NF|insertion|HGNC|HGNC:26062||||4|||ENSP00000464657||J3QSF0.36|UPI0003F48015|||||||||||||||||||||||6.585e-06|2.419e-05|0|0|0|0|0|0|0|0|0|2.419e-05|gnomADg_AFR|||||||||||MALRHLALLAGLLV||,T|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||1/9|ENST00000482816.5:n.185-5791dup|||||||rs895171838||-1||insertion|HGNC|HGNC:26062||||5|||||||||||||||||||||||||||||6.585e-06|2.419e-05|0|0|0|0|0|0|0|0|0|2.419e-05|gnomADg_AFR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000285812|Transcript|ENST00000648183|lncRNA|1/2||ENST00000648183.1:n.315dup||309-310|||||rs895171838||1||insertion|||YES||||||||||||||||||||||||||||||||6.585e-06|2.419e-05|0|0|0|0|0|0|0|0|0|2.419e-05|gnomADg_AFR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1104818 . GAA G . weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=34;MBQ=0,30;MFRL=0,0;MMQ=60,60;MPOS=113;POPAF=7.3;RPA=11,9;RU=A;STR;STRQ=93;TLOD=3.56;SRC=short_indel;GRP=s001;CSQ=-|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379319|protein_coding||1/9|ENST00000379319.5:c.-136+1136_-136+1137del|||||||||-1||deletion|HGNC|HGNC:26062||||5|P1|CCDS7.2|ENSP00000368623|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,-|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay||1/10|ENST00000379325.7:c.-136+11240_-136+11241del|||||||||-1||deletion|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,-|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding||2/11|ENST00000379339.5:c.-136+10202_-136+10203del|||||||||-1||deletion|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,-|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding||1/9|ENST00000421241.7:c.-136+11240_-136+11241del|||||||||-1||deletion|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,-|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||1/10|ENST00000434641.5:c.-136+11240_-136+11241del|||||||||-1|cds_end_NF|deletion|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,-|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding||2/6|ENST00000462097.5:c.-136+1136_-136+1137del|||||||||-1|cds_end_NF|deletion|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,-|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay||1/11|ENST00000467751.5:c.-136+11240_-136+11241del|||||||||-1||deletion|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,-|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000472741|retained_intron||1/2|ENST00000472741.5:n.28+11240_28+11241del|||||||||-1||deletion|HGNC|HGNC:26062||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding||1/5|ENST00000475119.5:c.-180+11240_-180+11241del|||||||||-1|cds_end_NF|deletion|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,-|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay||1/9|ENST00000477196.5:c.-136+11240_-136+11241del|||||||||-1||deletion|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,-|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000480643|protein_coding||4/5|ENST00000480643.1:c.-136+1136_-136+1137del|||||||||-1|cds_end_NF|deletion|HGNC|HGNC:26062||||4|||ENSP00000464657||J3QSF0.36|UPI0003F48015||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLV||,-|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||1/9|ENST00000482816.5:n.184+11240_184+11241del|||||||||-1||deletion|HGNC|HGNC:26062||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000285812|Transcript|ENST00000648183|lncRNA|||||||||||221|1||deletion|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344492|enhancer||||||||||||||deletion|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1114927 . CG C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=3;ECNT=1;GERMQ=37;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=53;POPAF=7.3;RPA=3,2;RU=G;STR;STRQ=93;TLOD=6.77;SRC=short_indel;GRP=s001;CSQ=-|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay||1/10|ENST00000379325.7:c.-136+1132del|||||||||-1||deletion|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,-|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding||2/11|ENST00000379339.5:c.-136+94del|||||||||-1||deletion|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,-|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding||1/9|ENST00000421241.7:c.-136+1132del|||||||||-1||deletion|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,-|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||1/10|ENST00000434641.5:c.-136+1132del|||||||||-1|cds_end_NF|deletion|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,-|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding||1/6|ENST00000462097.5:c.-230+1132del|||||||||-1|cds_end_NF|deletion|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,-|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay||1/11|ENST00000467751.5:c.-136+1132del|||||||||-1||deletion|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,-|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000472741|retained_intron||1/2|ENST00000472741.5:n.28+1132del|||||||||-1||deletion|HGNC|HGNC:26062||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding||1/5|ENST00000475119.5:c.-180+1132del|||||||||-1|cds_end_NF|deletion|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,-|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay||1/9|ENST00000477196.5:c.-136+1132del|||||||||-1||deletion|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,-|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000480643|protein_coding||2/5|ENST00000480643.1:c.-452+94del|||||||||-1|cds_end_NF|deletion|HGNC|HGNC:26062||||4|||ENSP00000464657||J3QSF0.36|UPI0003F48015||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLV||,-|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||1/9|ENST00000482816.5:n.184+1132del|||||||||-1||deletion|HGNC|HGNC:26062||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000136|promoter||||||||||||||deletion|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.684:2:0,0:0,1:0,1:0,0,1,1 -chr1 1163440 . TCC T,TC . PASS AS_FilterStatus=SITE|SITE;AS_SB_TABLE=0%2C0|2%2C2|2%2C1;DP=8;ECNT=1;GERMQ=24;MBQ=0,34,33;MFRL=0,0,0;MMQ=60,60,60;MPOS=40,12;POPAF=7.3,7.3;RPA=9,7,8;RU=C;STR;STRQ=93;TLOD=10.68,7.41;SRC=short_indel;GRP=s001;CSQ=-|upstream_gene_variant|MODIFIER|MIR200A|ENSG00000207607|Transcript|ENST00000384875|miRNA||||||||||rs5772039|4421|1||sequence_alteration|HGNC|HGNC:31578|YES||||||||||||||||||||||||||||||||0.0001187|0.0002182|0|0.000328|0|0.000195|0|0|4.42e-05|0|0|0.000328|gnomADg_AMR||||21686129|||||||||,C|upstream_gene_variant|MODIFIER|MIR200A|ENSG00000207607|Transcript|ENST00000384875|miRNA||||||||||rs5772039|4421|1||sequence_alteration|HGNC|HGNC:31578|YES|||||||||||||||||0.6176|0.6006|0.6657|0.4772|0.7078|0.6585||||||||||0.8794|0.8169|0.9901|0.8984|0.9103|0.5672|0.8997|0.949|0.93|0.8764|0.8819|0.9901|gnomADg_AMI||||21686129|||||||||,-|upstream_gene_variant|MODIFIER|MIR200B|ENSG00000207730|Transcript|ENST00000384997|miRNA||||||||||rs5772039|3662|1||sequence_alteration|HGNC|HGNC:31579|YES||||||||||||||||||||||||||||||||0.0001187|0.0002182|0|0.000328|0|0.000195|0|0|4.42e-05|0|0|0.000328|gnomADg_AMR||||21686129|||||||||,C|upstream_gene_variant|MODIFIER|MIR200B|ENSG00000207730|Transcript|ENST00000384997|miRNA||||||||||rs5772039|3662|1||sequence_alteration|HGNC|HGNC:31579|YES|||||||||||||||||0.6176|0.6006|0.6657|0.4772|0.7078|0.6585||||||||||0.8794|0.8169|0.9901|0.8984|0.9103|0.5672|0.8997|0.949|0.93|0.8764|0.8819|0.9901|gnomADg_AMI||||21686129|||||||||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344515|promoter||||||||||rs5772039||||sequence_alteration|||||||||||||||||||||||||||||||||||0.0001187|0.0002182|0|0.000328|0|0.000195|0|0|4.42e-05|0|0|0.000328|gnomADg_AMR||||21686129|||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344515|promoter||||||||||rs5772039||||sequence_alteration||||||||||||||||||||0.6176|0.6006|0.6657|0.4772|0.7078|0.6585||||||||||0.8794|0.8169|0.9901|0.8984|0.9103|0.5672|0.8997|0.949|0.93|0.8764|0.8819|0.9901|gnomADg_AMI||||21686129||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1/2:0,4,3:0.375,0.5:7:0,0,0:0,2,3:0,2,3:0,0,4,3 -chr1 1168310 . T TCA . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C0|5%2C3;DP=10;ECNT=1;GERMQ=34;MBQ=15,33;MFRL=0,0;MMQ=60,60;MPOS=61;POPAF=7.3;TLOD=34.1;SRC=short_indel;GRP=s001;CSQ=CA|upstream_gene_variant|MODIFIER|MIR429|ENSG00000198976|Transcript|ENST00000362106|miRNA||||||||||rs1553138852|694|1||insertion|HGNC|HGNC:13784|YES||||||||||||||||||||||||||||||||0.889|0.8226|0.9901|0.9137|0.9133|0.5768|0.9232|0.962|0.9395|0.8884|0.884|0.9901|gnomADg_AMI|||||||||||||,CA|downstream_gene_variant|MODIFIER|TTLL10-AS1|ENSG00000205231|Transcript|ENST00000379317|lncRNA||||||||||rs1553138852|4745|-1||insertion|HGNC|HGNC:41159|YES|||2|||||||||||||||||||||||||||||0.889|0.8226|0.9901|0.9137|0.9133|0.5768|0.9232|0.962|0.9395|0.8884|0.884|0.9901|gnomADg_AMI|||||||||||||,CA|downstream_gene_variant|MODIFIER|MIR200A|ENSG00000207607|Transcript|ENST00000384875|miRNA||||||||||rs1553138852|358|1||insertion|HGNC|HGNC:31578|YES||||||||||||||||||||||||||||||||0.889|0.8226|0.9901|0.9137|0.9133|0.5768|0.9232|0.962|0.9395|0.8884|0.884|0.9901|gnomADg_AMI|||||||||||||,CA|downstream_gene_variant|MODIFIER|MIR200B|ENSG00000207730|Transcript|ENST00000384997|miRNA||||||||||rs1553138852|1112|1||insertion|HGNC|HGNC:31579|YES||||||||||||||||||||||||||||||||0.889|0.8226|0.9901|0.9137|0.9133|0.5768|0.9232|0.962|0.9395|0.8884|0.884|0.9901|gnomADg_AMI|||||||||||||,CA|upstream_gene_variant|MODIFIER||ENSG00000272141|Transcript|ENST00000606993|lncRNA||||||||||rs1553138852|1046|1||insertion|||YES||||||||||||||||||||||||||||||||0.889|0.8226|0.9901|0.9137|0.9133|0.5768|0.9232|0.962|0.9395|0.8884|0.884|0.9901|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,8:0.88:9:0,0:0,4:0,6:1,0,5,3 -chr1 1233710 . GT G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=99%2C106|2%2C2;DP=211;ECNT=1;GERMQ=93;MBQ=34,34;MFRL=0,0;MMQ=60,60;MPOS=19;POPAF=7.3;RPA=3,2;RU=T;STR;STRQ=93;TLOD=8.3;SRC=short_indel;GRP=s001;CSQ=-|upstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000263741|protein_coding|||||||||||1680|-1||deletion|HGNC|HGNC:24188||||1||CCDS12.2|ENSP00000263741||A0A5F9UJX7.15|UPI00114AF40C||||||||||||||||||||||||||||||||||||||||||||||MASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEETQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDRKKEFEELIDSNHDGIVTAEELENVPTLPLQPIGTLNSHFVRLAAELGGGKATLTCAPLARRATWTP||,-|upstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000360001|protein_coding|||||||||||1710|-1||deletion|HGNC|HGNC:24188|YES|NM_016176.6||1|P1|CCDS30553.2|ENSP00000353094||A0A5F9UP49.15|UPI0000205990||||||||||||||||||||||||||||||||||||||||||||||MASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEETQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDRKKEFEELIDSNHDGIVTAEELESYMDPMNEYNALNEAKQMIAVADENQNHHLEPEEVLKYSEFFTGSKLVDYARSVHEEF||,-|3_prime_UTR_variant|MODIFIER|B3GALT6|ENSG00000176022|Transcript|ENST00000379198|protein_coding|1/1||ENST00000379198.5:c.*445del||1475|||||||1||deletion|HGNC|HGNC:17978|YES|NM_080605.4|||P1|CCDS13.1|ENSP00000368496|Q96L58.168||UPI0000141885||1||||||||||||||||||||||||||||||||||||||||||||MKLLRRAWRRRAALGLGTLALCGAALLYLARCAAEPGDPRAMSGRSPPPPAPARAAAFLAVLVASAPRAAERRSVIRSTWLARRGAPGDVWARFAVGTAGLGAEERRALEREQARHGDLLLLPALRDAYENLTAKVLAMLAWLDEHVAFEFVLKADDDSFARLDALLAELRAREPARRRRLYWGFFSGRGRVKPGGRWREAAWQLCDYYLPYALGGGYVLSADLVHYLRLSRDYLRAWHSEDVSLGAWLAPVDVQREHDPRFDTEYRSRGCSNQYLVTHKQSLEDMLEKHATLAREGRLCKREVQLRLSYVYDWSAPPSQCCQRREGIP||,-|upstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000459994|protein_coding_CDS_not_defined|||||||||||1743|-1||deletion|HGNC|HGNC:24188||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,-|upstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000465727|nonsense_mediated_decay|||||||||||1680|-1||deletion|HGNC|HGNC:24188||||2|||ENSP00000435962||G3V1E2.100|UPI000045610D||||||||||||||||||||||||||||||||||||||||||||||MVWPWVAMASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEESCAPLSTGSPGEPEGPLVPGGQPPCRPAADGGGVPVVPPPRAQPGNAQVHGEGDRPGPGPGR||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000159|promoter||||||||||||||deletion|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:205,4:0.024:209:9,0:100,2:122,2:99,106,2,2 diff --git a/.tests/integration/indel-test/results/indel-test_SE/annotation/somatic.snvs.html b/.tests/integration/indel-test/results/indel-test_SE/annotation/somatic.snvs.html deleted file mode 100644 index 0a9be9f..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/annotation/somatic.snvs.html +++ /dev/null @@ -1,209 +0,0 @@ - - - VEP summary - - - - - - - - -
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Links

VEP run statistics

VEP version (API) 109 (109)
Annotation sourcesCache: resources/vep/cache/homo_sapiens/111_GRCh38
Specieshomo_sapiens
Command line options
--assembly GRCh38 --cache  --cache_version 111 --dir_cache resources/vep/cache --dir_plugins resources/vep/plugins --everything --fasta resources/refs/genome.fasta --fork 4 --format vcf --offline --output_file STDOUT --plugin NMD, --plugin Wildtype, --plugin Downstream, --species homo_sapiens --stats_file results/indel-test_SE/annotation/somatic.snvs.html --vcf
Start time2024-05-18 04:41:29
End time2024-05-18 04:41:33
Run time4 seconds
Input fileSTDIN
Output fileSTDOUT

General statistics

Lines of input read465
Variants processed465
Variants filtered out0
Novel / existing variants107 (23.0) / 358 (77.0)
Overlapped genes76
Overlapped transcripts250
Overlapped regulatory features53

Variant classes

 
 

Consequences (most severe)

 
 

Consequences (all)

 
 

Coding consequences

 
 

SIFT summary

 
 

PolyPhen summary

 
 

Variants by chromosome

 
 

Distribution of variants on chromosome chr1

 

Distribution of variants on chromosome chr2

 

Distribution of variants on chromosome chr8

 

Distribution of variants on chromosome chrMT

 

Position in protein

 
-
- diff --git a/.tests/integration/indel-test/results/indel-test_SE/annotation/somatic.snvs.vcf b/.tests/integration/indel-test/results/indel-test_SE/annotation/somatic.snvs.vcf deleted file mode 100644 index df142b9..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/annotation/somatic.snvs.vcf +++ /dev/null @@ -1,580 +0,0 @@ -##fileformat=VCFv4.2 -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##GATKCommandLine= -##GATKCommandLine= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##MutectVersion=2.2 -##bcftools_concatCommand=concat -O z -a -o results/indel-test_SE/rnaseq/indel/mutect2/s001_variants.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr21_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr11_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr9_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr6_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr3_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr12_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr10_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrMT_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr13_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr8_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr14_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr5_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr2_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr22_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr19_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr20_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr17_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr18_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr16_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr7_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr4_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrX_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr1_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrY_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr15_flt.vcf.gz; Date=Sat May 18 04:41:18 2024 -##bcftools_concatVersion=1.9+htslib-1.9 -##bcftools_viewCommand=view -O z -o results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr21_flt.vcf.gz; Date=Sat May 18 04:20:51 2024 -##bcftools_viewVersion=1.9+htslib-1.9 -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##filtering_status=These calls have been filtered by FilterMutectCalls to label false positives with a list of failed filters and true positives with PASS. -##reference=file:///projects/b1171/sej9799/ScanNeo2_test/ScanNeo2/resources/refs/genome.fasta -##source=FilterMutectCalls -##source=SelectVariants -##tumor_sample=unknown -##INFO= -##INFO= -##bcftools_viewCommand=view -O z -o results/indel-test_SE/rnaseq/indel/mutect2/s001_somatic.snvs.vcf.gz; Date=Sat May 18 04:41:26 2024 -##bcftools_viewVersion=1.16+htslib-1.20 -##bcftools_viewCommand=view results/indel-test_SE/variants/somatic.snvs.vcf.gz; Date=Sat May 18 04:41:28 2024 -##VEP="v109" time="2024-05-18 04:41:29" cache="resources/vep/cache/homo_sapiens/111_GRCh38" ensembl-funcgen=109.cba2db8 ensembl-io=109.4946a86 ensembl-variation=109.18a12b6 ensembl=109.10baaec 1000genomes="phase3" COSMIC="98" ClinVar="202306" HGMD-PUBLIC="20204" assembly="GRCh38.p14" dbSNP="156" gencode="GENCODE 45" genebuild="2014-07" gnomADe="r2.1.1" gnomADg="v3.1.2" polyphen="2.2.3" regbuild="1.0" sift="6.2.1" -##INFO= -##NMD=Nonsense-mediated mRNA decay escaping variants prediction -##WildtypeProtein=The normal, non-mutated protein sequence -##DownstreamProtein=Predicted downstream translation for frameshift mutations -##ProteinLengthChange=Predicted change in protein product length -##VEP-command-line='vep --assembly GRCh38 --cache --cache_version 111 --database 0 --dir_cache [PATH]/cache --dir_plugins [PATH]/plugins --everything --fasta [PATH]/genome.fasta --fork 4 --format vcf --offline --output_file STDOUT --plugin NMD, --plugin Wildtype, --plugin Downstream, --vcf' -##bcftools_viewCommand=view -Ov; Date=Sat May 18 04:41:29 2024 -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT unknown -chr1 190768 . G A . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,22;MPOS=92;POPAF=7.3;TLOD=5.05;SRC=snv;GRP=s001;CSQ=A|upstream_gene_variant|MODIFIER|MIR6859-2|ENSG00000273874|Transcript|ENST00000612080|miRNA||||||||||rs1342012641|2810|-1||SNV|HGNC|HGNC:49954|YES||||||||||||||||||||||||||||||||0.5012|0.4809|0.5106|0.508|0.5146|0.5136|0.506|0.5|0.5074|0.5107|0.5194|0.5194|gnomADg_SAS|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|WASH9P|ENSG00000279457|Transcript|ENST00000623083|unprocessed_pseudogene||1/9|ENST00000623083.4:n.150-1866C>T|||||||rs1342012641||-1||SNV|HGNC|HGNC:53981|YES||||||||||||||||||||||||||||||||0.5012|0.4809|0.5106|0.508|0.5146|0.5136|0.506|0.5|0.5074|0.5107|0.5194|0.5194|gnomADg_SAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 733895 . G T . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,21;MFRL=0,0;MMQ=60,25;MPOS=37;POPAF=7.3;TLOD=3.63;SRC=snv;GRP=s001;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000414688|lncRNA|||||||||||1683|-1||SNV||||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000291215|Transcript|ENST00000506640|lncRNA||14/15|ENST00000506640.3:n.2492-531C>A|||||||||-1||SNV|||YES|||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.128-34936C>A|||||||||-1||SNV|||YES|||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.101-21973C>A|||||||||-1||SNV||||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000648019|lncRNA|||||||||||831|-1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344376|CTCF_binding_site||||||||||||||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164781|enhancer||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 778051 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=1%2C2|1%2C1;DP=5;ECNT=3;GERMQ=38;MBQ=31,33;MFRL=0,0;MMQ=60,56;MPOS=55;POPAF=7.3;TLOD=6.38;SRC=snv;GRP=s001;CSQ=C|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000412115|lncRNA||||||||||rs1181211008|696|1||SNV|HGNC|HGNC:50701|YES|||3|||||||||||||||||||||||||||||1.973e-05|0|0|0|0|0|0|0|4.411e-05|0|0|4.411e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000228327|Transcript|ENST00000428504|transcribed_unprocessed_pseudogene||||||||||rs1181211008|3771|-1||SNV|||YES||||||||||||||||||||||||||||||||1.973e-05|0|0|0|0|0|0|0|4.411e-05|0|0|4.411e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000429505|lncRNA||||||||||rs1181211008|709|1||SNV|HGNC|HGNC:50701||||3|||||||||||||||||||||||||||||1.973e-05|0|0|0|0|0|0|0|4.411e-05|0|0|4.411e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000434264|lncRNA||||||||||rs1181211008|719|1||SNV|HGNC|HGNC:50701||||5|||||||||||||||||||||||||||||1.973e-05|0|0|0|0|0|0|0|4.411e-05|0|0|4.411e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000443772|lncRNA||||||||||rs1181211008|921|1||SNV|HGNC|HGNC:50701||||3|||||||||||||||||||||||||||||1.973e-05|0|0|0|0|0|0|0|4.411e-05|0|0|4.411e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000457084|lncRNA||||||||||rs1181211008|731|1||SNV|HGNC|HGNC:50701||||4|||||||||||||||||||||||||||||1.973e-05|0|0|0|0|0|0|0|4.411e-05|0|0|4.411e-05|gnomADg_NFE|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000291215|Transcript|ENST00000506640|lncRNA||1/15|ENST00000506640.3:n.380+233A>G|||||||rs1181211008||-1||SNV|||YES|||5|||||||||||||||||||||||||||||1.973e-05|0|0|0|0|0|0|0|4.411e-05|0|0|4.411e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000589899|lncRNA||||||||||rs1181211008|879|1||SNV|HGNC|HGNC:50701||||5|||||||||||||||||||||||||||||1.973e-05|0|0|0|0|0|0|0|4.411e-05|0|0|4.411e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000609830|lncRNA||||||||||rs1181211008|886|1||SNV|HGNC|HGNC:50701||||5|||||||||||||||||||||||||||||1.973e-05|0|0|0|0|0|0|0|4.411e-05|0|0|4.411e-05|gnomADg_NFE|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+49619A>G|||||||rs1181211008||-1||SNV|||YES|||5|||||||||||||||||||||||||||||1.973e-05|0|0|0|0|0|0|0|4.411e-05|0|0|4.411e-05|gnomADg_NFE|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+49619A>G|||||||rs1181211008||-1||SNV||||||5|||||||||||||||||||||||||||||1.973e-05|0|0|0|0|0|0|0|4.411e-05|0|0|4.411e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000285268|Transcript|ENST00000644482|transcribed_processed_pseudogene||||||||||rs1181211008|3886|1||SNV|||YES||||||||||||||||||||||||||||||||1.973e-05|0|0|0|0|0|0|0|4.411e-05|0|0|4.411e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000651411|lncRNA||||||||||rs1181211008|798|1||SNV|HGNC|HGNC:50701|||||||||||||||||||||||||||||||||1.973e-05|0|0|0|0|0|0|0|4.411e-05|0|0|4.411e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000655765|lncRNA||||||||||rs1181211008|696|1||SNV|HGNC|HGNC:50701|||||||||||||||||||||||||||||||||1.973e-05|0|0|0|0|0|0|0|4.411e-05|0|0|4.411e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000656571|lncRNA||||||||||rs1181211008|751|1||SNV|HGNC|HGNC:50701|||||||||||||||||||||||||||||||||1.973e-05|0|0|0|0|0|0|0|4.411e-05|0|0|4.411e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000657896|lncRNA||||||||||rs1181211008|709|1||SNV|HGNC|HGNC:50701|||||||||||||||||||||||||||||||||1.973e-05|0|0|0|0|0|0|0|4.411e-05|0|0|4.411e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000658648|lncRNA||||||||||rs1181211008|745|1||SNV|HGNC|HGNC:50701|||||||||||||||||||||||||||||||||1.973e-05|0|0|0|0|0|0|0|4.411e-05|0|0|4.411e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000665719|lncRNA||||||||||rs1181211008|761|1||SNV|HGNC|HGNC:50701|||||||||||||||||||||||||||||||||1.973e-05|0|0|0|0|0|0|0|4.411e-05|0|0|4.411e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000665867|lncRNA||||||||||rs1181211008|758|1||SNV|HGNC|HGNC:50701|||||||||||||||||||||||||||||||||1.973e-05|0|0|0|0|0|0|0|4.411e-05|0|0|4.411e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000666217|lncRNA||||||||||rs1181211008|761|1||SNV|HGNC|HGNC:50701|||||||||||||||||||||||||||||||||1.973e-05|0|0|0|0|0|0|0|4.411e-05|0|0|4.411e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000669749|lncRNA||||||||||rs1181211008|758|1||SNV|HGNC|HGNC:50701|||||||||||||||||||||||||||||||||1.973e-05|0|0|0|0|0|0|0|4.411e-05|0|0|4.411e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000670700|lncRNA||||||||||rs1181211008|707|1||SNV|HGNC|HGNC:50701|||||||||||||||||||||||||||||||||1.973e-05|0|0|0|0|0|0|0|4.411e-05|0|0|4.411e-05|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291215|Transcript|ENST00000692781|lncRNA|1/1||ENST00000692781.2:n.638A>G||638|||||rs1181211008||-1||SNV|||||||||||||||||||||||||||||||||||1.973e-05|0|0|0|0|0|0|0|4.411e-05|0|0|4.411e-05|gnomADg_NFE|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000081|promoter||||||||||rs1181211008||||SNV|||||||||||||||||||||||||||||||||||1.973e-05|0|0|0|0|0|0|0|4.411e-05|0|0|4.411e-05|gnomADg_NFE||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,2:0.4:5:0,0:1,1:2,1:1,2,1,1 -chr1 778906 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|2%2C1;DP=5;ECNT=2;GERMQ=37;MBQ=35,32;MFRL=0,0;MMQ=38,32;MPOS=45;POPAF=7.3;TLOD=9.25;SRC=snv;GRP=s001;CSQ=T|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000412115|lncRNA|1/5||ENST00000412115.2:n.160G>T||160|||||||1||SNV|HGNC|HGNC:50701|YES|||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000228327|Transcript|ENST00000428504|transcribed_unprocessed_pseudogene|||||||||||4626|-1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000429505|lncRNA|1/4||ENST00000429505.6:n.147G>T||147|||||||1||SNV|HGNC|HGNC:50701||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000434264|lncRNA|1/3||ENST00000434264.6:n.137G>T||137|||||||1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000443772|lncRNA|||||||||||66|1||SNV|HGNC|HGNC:50701||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000457084|lncRNA|1/2||ENST00000457084.1:n.125G>T||125|||||||1||SNV|HGNC|HGNC:50701||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291215|Transcript|ENST00000506640|lncRNA|||||||||||243|-1||SNV|||YES|||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000589899|lncRNA|||||||||||24|1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000609830|lncRNA|||||||||||31|1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+48764C>A|||||||||-1||SNV|||YES|||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+48764C>A|||||||||-1||SNV||||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000285268|Transcript|ENST00000644482|transcribed_processed_pseudogene|||||||||||3031|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000651411|lncRNA|1/4||ENST00000651411.1:n.58G>T||58|||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000655765|lncRNA|1/3||ENST00000655765.1:n.160G>T||160|||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000656571|lncRNA|1/5||ENST00000656571.1:n.105G>T||105|||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000657896|lncRNA|1/4||ENST00000657896.1:n.147G>T||147|||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000658648|lncRNA|1/5||ENST00000658648.1:n.111G>T||111|||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000665719|lncRNA|1/5||ENST00000665719.1:n.95G>T||95|||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000665867|lncRNA|1/2||ENST00000665867.1:n.98G>T||98|||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000666217|lncRNA|1/4||ENST00000666217.1:n.95G>T||95|||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000669749|lncRNA|1/4||ENST00000669749.1:n.98G>T||98|||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000670700|lncRNA|1/5||ENST00000670700.1:n.149G>T||149|||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291215|Transcript|ENST00000692781|lncRNA|||||||||||218|-1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000081|promoter||||||||||||||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00208067917|||||||||||||-1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||ENSPFM0303|10|N|-0.005|HOXB13::TBX3||||,T|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00205928640|||||||||||||-1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||ENSPFM0530|14|N|0.019|TEAD4::ELK1||||,T|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00010921924|||||||||||||-1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||ENSPFM0160|17|Y|-0.031|ETV2::RFX5|||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,3:0.6:5:0,0:1,2:1,2:1,1,2,1 -chr1 778984 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C0|1%2C1;DP=3;ECNT=2;GERMQ=38;MBQ=35,32;MFRL=0,0;MMQ=30,32;MPOS=123;POPAF=7.3;TLOD=6.37;SRC=snv;GRP=s001;CSQ=A|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000412115|lncRNA|1/5||ENST00000412115.2:n.238G>A||238|||||||1||SNV|HGNC|HGNC:50701|YES|||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000228327|Transcript|ENST00000428504|transcribed_unprocessed_pseudogene|||||||||||4704|-1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000429505|lncRNA|1/4||ENST00000429505.6:n.225G>A||225|||||||1||SNV|HGNC|HGNC:50701||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000434264|lncRNA|1/3||ENST00000434264.6:n.215G>A||215|||||||1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000443772|lncRNA|1/4||ENST00000443772.2:n.13G>A||13|||||||1||SNV|HGNC|HGNC:50701||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000457084|lncRNA|1/2||ENST00000457084.1:n.203G>A||203|||||||1||SNV|HGNC|HGNC:50701||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000291215|Transcript|ENST00000506640|lncRNA|||||||||||321|-1||SNV|||YES|||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000589899|lncRNA|1/4||ENST00000589899.5:n.55G>A||55|||||||1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000609830|lncRNA|1/4||ENST00000609830.1:n.48G>A||48|||||||1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+48686C>T|||||||||-1||SNV|||YES|||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+48686C>T|||||||||-1||SNV||||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000285268|Transcript|ENST00000644482|transcribed_processed_pseudogene|||||||||||2953|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000651411|lncRNA|1/4||ENST00000651411.1:n.136G>A||136|||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000655765|lncRNA|1/3||ENST00000655765.1:n.238G>A||238|||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000656571|lncRNA|1/5||ENST00000656571.1:n.183G>A||183|||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000657896|lncRNA|1/4||ENST00000657896.1:n.225G>A||225|||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000658648|lncRNA|1/5||ENST00000658648.1:n.189G>A||189|||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000665719|lncRNA|1/5||ENST00000665719.1:n.173G>A||173|||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000665867|lncRNA|1/2||ENST00000665867.1:n.176G>A||176|||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000666217|lncRNA|1/4||ENST00000666217.1:n.173G>A||173|||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000669749|lncRNA|1/4||ENST00000669749.1:n.176G>A||176|||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000670700|lncRNA|1/5||ENST00000670700.1:n.227G>A||227|||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000291215|Transcript|ENST00000692781|lncRNA|||||||||||296|-1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000081|promoter||||||||||||||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00191868652|||||||||||||-1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||ENSPFM0238|13|N|-0.024|GCM1::MAX||||,A|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00193197821|||||||||||||1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||ENSPFM0597|20|N|-0.004|TFAP2C::MAX|||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,2:0.5:3:0,0:1,1:1,1:1,0,1,1 -chr1 779196 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4%2C5|1%2C1;DP=11;ECNT=1;GERMQ=47;MBQ=33,33;MFRL=0,0;MMQ=53,60;MPOS=59;POPAF=7.3;TLOD=5.83;SRC=snv;GRP=s001;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000412115|lncRNA||1/4|ENST00000412115.2:n.346+104G>T|||||||||1||SNV|HGNC|HGNC:50701|YES|||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000228327|Transcript|ENST00000428504|transcribed_unprocessed_pseudogene|||||||||||4916|-1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000429505|lncRNA||1/3|ENST00000429505.6:n.333+104G>T|||||||||1||SNV|HGNC|HGNC:50701||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000434264|lncRNA||1/2|ENST00000434264.6:n.323+104G>T|||||||||1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000443772|lncRNA||1/3|ENST00000443772.2:n.121+104G>T|||||||||1||SNV|HGNC|HGNC:50701||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000457084|lncRNA||1/1|ENST00000457084.1:n.311+104G>T|||||||||1||SNV|HGNC|HGNC:50701||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291215|Transcript|ENST00000506640|lncRNA|||||||||||533|-1||SNV|||YES|||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000589899|lncRNA||1/3|ENST00000589899.5:n.163+104G>T|||||||||1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000609830|lncRNA||1/3|ENST00000609830.1:n.156+104G>T|||||||||1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+48474C>A|||||||||-1||SNV|||YES|||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+48474C>A|||||||||-1||SNV||||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000285268|Transcript|ENST00000644482|transcribed_processed_pseudogene|||||||||||2741|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000651411|lncRNA||1/3|ENST00000651411.1:n.244+104G>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000655765|lncRNA||1/2|ENST00000655765.1:n.346+104G>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000656571|lncRNA||1/4|ENST00000656571.1:n.291+104G>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000657896|lncRNA||1/3|ENST00000657896.1:n.333+104G>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000658648|lncRNA||1/4|ENST00000658648.1:n.297+104G>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000665719|lncRNA||1/4|ENST00000665719.1:n.281+104G>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000665867|lncRNA||1/1|ENST00000665867.1:n.284+104G>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000666217|lncRNA||1/3|ENST00000666217.1:n.281+104G>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000669749|lncRNA||1/3|ENST00000669749.1:n.284+104G>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000670700|lncRNA||1/4|ENST00000670700.1:n.335+104G>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291215|Transcript|ENST00000692781|lncRNA|||||||||||508|-1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000081|promoter||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:9,2:0.25:11:1,0:3,1:5,1:4,5,1,1 -chr1 779968 . T G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|5%2C6;DP=13;ECNT=1;GERMQ=72;MBQ=0,34;MFRL=0,0;MMQ=60,50;MPOS=65;POPAF=7.3;TLOD=39.07;SRC=snv;GRP=s001;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000412115|lncRNA||1/4|ENST00000412115.2:n.346+876T>G|||||||rs3131984||1||SNV|HGNC|HGNC:50701|YES|||3||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000429505|lncRNA||1/3|ENST00000429505.6:n.333+876T>G|||||||rs3131984||1||SNV|HGNC|HGNC:50701||||3||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000434264|lncRNA||1/2|ENST00000434264.6:n.323+876T>G|||||||rs3131984||1||SNV|HGNC|HGNC:50701||||5||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000443772|lncRNA||1/3|ENST00000443772.2:n.121+876T>G|||||||rs3131984||1||SNV|HGNC|HGNC:50701||||3||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000457084|lncRNA||1/1|ENST00000457084.1:n.311+876T>G|||||||rs3131984||1||SNV|HGNC|HGNC:50701||||4||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000291215|Transcript|ENST00000506640|lncRNA||||||||||rs3131984|1305|-1||SNV|||YES|||5||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000585745|lncRNA||||||||||rs3131984|4402|1||SNV|HGNC|HGNC:50701||||5||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000585768|lncRNA||||||||||rs3131984|4402|1||SNV|HGNC|HGNC:50701||||5||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000585826|lncRNA||||||||||rs3131984|4402|1||SNV|HGNC|HGNC:50701||||||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000586288|lncRNA||||||||||rs3131984|4428|1||SNV|HGNC|HGNC:50701||||5||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000586928|lncRNA||||||||||rs3131984|4402|1||SNV|HGNC|HGNC:50701||||5||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000587530|lncRNA||||||||||rs3131984|4402|1||SNV|HGNC|HGNC:50701||||5||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000588951|lncRNA||||||||||rs3131984|4402|1||SNV|HGNC|HGNC:50701||||5||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000589531|lncRNA||||||||||rs3131984|4402|1||SNV|HGNC|HGNC:50701||||5||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000589899|lncRNA||1/3|ENST00000589899.5:n.163+876T>G|||||||rs3131984||1||SNV|HGNC|HGNC:50701||||5||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000590848|lncRNA||||||||||rs3131984|4402|1||SNV|HGNC|HGNC:50701||||5||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000591440|lncRNA||||||||||rs3131984|4402|1||SNV|HGNC|HGNC:50701||||5||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000592547|lncRNA||||||||||rs3131984|4402|1||SNV|HGNC|HGNC:50701||||||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000593022|lncRNA||||||||||rs3131984|4402|1||SNV|HGNC|HGNC:50701||||5||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000609830|lncRNA||1/3|ENST00000609830.1:n.156+876T>G|||||||rs3131984||1||SNV|HGNC|HGNC:50701||||5||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+47702A>C|||||||rs3131984||-1||SNV|||YES|||5||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+47702A>C|||||||rs3131984||-1||SNV||||||5||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000285268|Transcript|ENST00000644482|transcribed_processed_pseudogene||||||||||rs3131984|1969|1||SNV|||YES|||||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000651411|lncRNA||1/3|ENST00000651411.1:n.244+876T>G|||||||rs3131984||1||SNV|HGNC|HGNC:50701||||||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000655765|lncRNA||1/2|ENST00000655765.1:n.346+876T>G|||||||rs3131984||1||SNV|HGNC|HGNC:50701||||||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000656571|lncRNA||1/4|ENST00000656571.1:n.291+876T>G|||||||rs3131984||1||SNV|HGNC|HGNC:50701||||||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000657896|lncRNA||1/3|ENST00000657896.1:n.333+876T>G|||||||rs3131984||1||SNV|HGNC|HGNC:50701||||||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000658648|lncRNA||1/4|ENST00000658648.1:n.297+876T>G|||||||rs3131984||1||SNV|HGNC|HGNC:50701||||||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000665719|lncRNA||1/4|ENST00000665719.1:n.281+876T>G|||||||rs3131984||1||SNV|HGNC|HGNC:50701||||||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000665867|lncRNA||1/1|ENST00000665867.1:n.284+876T>G|||||||rs3131984||1||SNV|HGNC|HGNC:50701||||||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000666217|lncRNA||1/3|ENST00000666217.1:n.281+876T>G|||||||rs3131984||1||SNV|HGNC|HGNC:50701||||||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000669749|lncRNA||1/3|ENST00000669749.1:n.284+876T>G|||||||rs3131984||1||SNV|HGNC|HGNC:50701||||||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000670700|lncRNA||1/4|ENST00000670700.1:n.335+876T>G|||||||rs3131984||1||SNV|HGNC|HGNC:50701||||||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000291215|Transcript|ENST00000692781|lncRNA||||||||||rs3131984|1280|-1||SNV||||||||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000081|promoter||||||||||rs3131984||||SNV||||||||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,11:0.88:11:0,1:0,5:0,6:0,0,5,6 -chr1 780634 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,29;MFRL=0,0;MMQ=60,32;MPOS=16;POPAF=7.3;TLOD=3.08;SRC=snv;GRP=s001;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000412115|lncRNA||1/4|ENST00000412115.2:n.346+1542G>T|||||||||1||SNV|HGNC|HGNC:50701|YES|||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000429505|lncRNA||1/3|ENST00000429505.6:n.333+1542G>T|||||||||1||SNV|HGNC|HGNC:50701||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000434264|lncRNA||1/2|ENST00000434264.6:n.324-1303G>T|||||||||1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000443772|lncRNA||1/3|ENST00000443772.2:n.121+1542G>T|||||||||1||SNV|HGNC|HGNC:50701||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000457084|lncRNA||1/1|ENST00000457084.1:n.312-1303G>T|||||||||1||SNV|HGNC|HGNC:50701||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291215|Transcript|ENST00000506640|lncRNA|||||||||||1971|-1||SNV|||YES|||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000585745|lncRNA|||||||||||3736|1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000585768|lncRNA|||||||||||3736|1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000585826|lncRNA|||||||||||3736|1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000586288|lncRNA|||||||||||3762|1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000586928|lncRNA|||||||||||3736|1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000587530|lncRNA|||||||||||3736|1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000588951|lncRNA|||||||||||3736|1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000589531|lncRNA|||||||||||3736|1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000589899|lncRNA||1/3|ENST00000589899.5:n.164-1303G>T|||||||||1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000590848|lncRNA|||||||||||3736|1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000591440|lncRNA|||||||||||3736|1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000592547|lncRNA|||||||||||3736|1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000593022|lncRNA|||||||||||3736|1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000609830|lncRNA||1/3|ENST00000609830.1:n.157-1303G>T|||||||||1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+47036C>A|||||||||-1||SNV|||YES|||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+47036C>A|||||||||-1||SNV||||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000285268|Transcript|ENST00000644482|transcribed_processed_pseudogene|||||||||||1303|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000651411|lncRNA||1/3|ENST00000651411.1:n.244+1542G>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000655765|lncRNA||1/2|ENST00000655765.1:n.346+1542G>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000656571|lncRNA||1/4|ENST00000656571.1:n.291+1542G>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000657896|lncRNA||1/3|ENST00000657896.1:n.333+1542G>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000658648|lncRNA||1/4|ENST00000658648.1:n.297+1542G>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000665719|lncRNA||1/4|ENST00000665719.1:n.281+1542G>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000665867|lncRNA||1/1|ENST00000665867.1:n.284+1542G>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000666217|lncRNA||1/3|ENST00000666217.1:n.281+1542G>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000669749|lncRNA||1/3|ENST00000669749.1:n.284+1542G>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000670700|lncRNA||1/4|ENST00000670700.1:n.335+1542G>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291215|Transcript|ENST00000692781|lncRNA|||||||||||1946|-1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000081|promoter||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 781047 . C T . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=2%2C2|1%2C1;DP=6;ECNT=1;GERMQ=39;MBQ=34,34;MFRL=0,0;MMQ=22,24;MPOS=82;POPAF=7.3;TLOD=4.67;SRC=snv;GRP=s001;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000412115|lncRNA||1/4|ENST00000412115.2:n.346+1955C>T|||||||||1||SNV|HGNC|HGNC:50701|YES|||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000429505|lncRNA||1/3|ENST00000429505.6:n.333+1955C>T|||||||||1||SNV|HGNC|HGNC:50701||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000434264|lncRNA||1/2|ENST00000434264.6:n.324-890C>T|||||||||1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000443772|lncRNA||1/3|ENST00000443772.2:n.121+1955C>T|||||||||1||SNV|HGNC|HGNC:50701||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000457084|lncRNA||1/1|ENST00000457084.1:n.312-890C>T|||||||||1||SNV|HGNC|HGNC:50701||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291215|Transcript|ENST00000506640|lncRNA|||||||||||2384|-1||SNV|||YES|||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000585745|lncRNA|||||||||||3323|1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000585768|lncRNA|||||||||||3323|1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000585826|lncRNA|||||||||||3323|1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000586288|lncRNA|||||||||||3349|1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000586928|lncRNA|||||||||||3323|1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000587530|lncRNA|||||||||||3323|1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000588951|lncRNA|||||||||||3323|1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000589531|lncRNA|||||||||||3323|1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000589899|lncRNA||1/3|ENST00000589899.5:n.164-890C>T|||||||||1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000590848|lncRNA|||||||||||3323|1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000591440|lncRNA|||||||||||3323|1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000591702|lncRNA|||||||||||4753|1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000592547|lncRNA|||||||||||3323|1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000593022|lncRNA|||||||||||3323|1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000609830|lncRNA||1/3|ENST00000609830.1:n.157-890C>T|||||||||1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+46623G>A|||||||||-1||SNV|||YES|||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+46623G>A|||||||||-1||SNV||||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000285268|Transcript|ENST00000644482|transcribed_processed_pseudogene|||||||||||890|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000651411|lncRNA||1/3|ENST00000651411.1:n.244+1955C>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000655765|lncRNA||1/2|ENST00000655765.1:n.346+1955C>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000656571|lncRNA||1/4|ENST00000656571.1:n.291+1955C>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000657896|lncRNA||1/3|ENST00000657896.1:n.333+1955C>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000658648|lncRNA||1/4|ENST00000658648.1:n.297+1955C>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000665719|lncRNA||1/4|ENST00000665719.1:n.281+1955C>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000665867|lncRNA||1/1|ENST00000665867.1:n.284+1955C>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000666217|lncRNA||1/3|ENST00000666217.1:n.281+1955C>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000669749|lncRNA||1/3|ENST00000669749.1:n.284+1955C>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000670700|lncRNA||1/4|ENST00000670700.1:n.335+1955C>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291215|Transcript|ENST00000692781|lncRNA|||||||||||2359|-1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000081|promoter||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,2:0.4:6:0,0:2,1:2,1:2,2,1,1 -chr1 783175 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C1;DP=3;ECNT=1;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,32;MPOS=13;POPAF=7.3;TLOD=10.65;SRC=snv;GRP=s001;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000412115|lncRNA||1/4|ENST00000412115.2:n.346+4083T>C|||||||rs10751453||1||SNV|HGNC|HGNC:50701|YES|||3|||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000429505|lncRNA||1/3|ENST00000429505.6:n.333+4083T>C|||||||rs10751453||1||SNV|HGNC|HGNC:50701||||3|||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000434264|lncRNA||2/2|ENST00000434264.6:n.523+1039T>C|||||||rs10751453||1||SNV|HGNC|HGNC:50701||||5|||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000443772|lncRNA||1/3|ENST00000443772.2:n.121+4083T>C|||||||rs10751453||1||SNV|HGNC|HGNC:50701||||3|||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000457084|lncRNA||||||||||rs10751453|984|1||SNV|HGNC|HGNC:50701||||4|||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000291215|Transcript|ENST00000506640|lncRNA||||||||||rs10751453|4512|-1||SNV|||YES|||5|||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000585745|lncRNA||||||||||rs10751453|1195|1||SNV|HGNC|HGNC:50701||||5|||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000585768|lncRNA||||||||||rs10751453|1195|1||SNV|HGNC|HGNC:50701||||5|||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000585826|lncRNA||||||||||rs10751453|1195|1||SNV|HGNC|HGNC:50701|||||||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000586288|lncRNA||||||||||rs10751453|1221|1||SNV|HGNC|HGNC:50701||||5|||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000586928|lncRNA||||||||||rs10751453|1195|1||SNV|HGNC|HGNC:50701||||5|||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000587530|lncRNA||||||||||rs10751453|1195|1||SNV|HGNC|HGNC:50701||||5|||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000588951|lncRNA||||||||||rs10751453|1195|1||SNV|HGNC|HGNC:50701||||5|||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000589531|lncRNA||||||||||rs10751453|1195|1||SNV|HGNC|HGNC:50701||||5|||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000589899|lncRNA|3/4||ENST00000589899.5:n.335T>C||335|||||rs10751453||1||SNV|HGNC|HGNC:50701||||5|||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000590848|lncRNA||||||||||rs10751453|1195|1||SNV|HGNC|HGNC:50701||||5|||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000591440|lncRNA||||||||||rs10751453|1195|1||SNV|HGNC|HGNC:50701||||5|||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000591702|lncRNA||||||||||rs10751453|2625|1||SNV|HGNC|HGNC:50701|||||||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000592547|lncRNA||||||||||rs10751453|1195|1||SNV|HGNC|HGNC:50701|||||||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000593022|lncRNA||||||||||rs10751453|1195|1||SNV|HGNC|HGNC:50701||||5|||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000609830|lncRNA|3/4||ENST00000609830.1:n.421T>C||421|||||rs10751453||1||SNV|HGNC|HGNC:50701||||5|||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+44495A>G|||||||rs10751453||-1||SNV|||YES|||5|||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+44495A>G|||||||rs10751453||-1||SNV||||||5|||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000285268|Transcript|ENST00000644482|transcribed_processed_pseudogene||||||||||rs10751453|1125|1||SNV|||YES||||||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000651411|lncRNA||1/3|ENST00000651411.1:n.244+4083T>C|||||||rs10751453||1||SNV|HGNC|HGNC:50701|||||||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000655765|lncRNA||1/2|ENST00000655765.1:n.346+4083T>C|||||||rs10751453||1||SNV|HGNC|HGNC:50701|||||||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000656571|lncRNA||1/4|ENST00000656571.1:n.291+4083T>C|||||||rs10751453||1||SNV|HGNC|HGNC:50701|||||||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000657896|lncRNA||1/3|ENST00000657896.1:n.333+4083T>C|||||||rs10751453||1||SNV|HGNC|HGNC:50701|||||||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000658648|lncRNA||1/4|ENST00000658648.1:n.297+4083T>C|||||||rs10751453||1||SNV|HGNC|HGNC:50701|||||||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000665719|lncRNA||1/4|ENST00000665719.1:n.281+4083T>C|||||||rs10751453||1||SNV|HGNC|HGNC:50701|||||||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000665867|lncRNA||1/1|ENST00000665867.1:n.285-3218T>C|||||||rs10751453||1||SNV|HGNC|HGNC:50701|||||||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000666217|lncRNA||1/3|ENST00000666217.1:n.281+4083T>C|||||||rs10751453||1||SNV|HGNC|HGNC:50701|||||||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000669749|lncRNA||1/3|ENST00000669749.1:n.284+4083T>C|||||||rs10751453||1||SNV|HGNC|HGNC:50701|||||||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000670700|lncRNA||1/4|ENST00000670700.1:n.335+4083T>C|||||||rs10751453||1||SNV|HGNC|HGNC:50701|||||||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000291215|Transcript|ENST00000692781|lncRNA||||||||||rs10751453|4487|-1||SNV|||||||||||||||||||||||||||||||||||0.9999|0.9997|1|1|0.9997|1|1|1|1|1|1|1|gnomADg_AMI&gnomADg_AMR&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,0:0,2:0,2:0,0,2,1 -chr1 794299 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,34;MPOS=52;POPAF=7.3;TLOD=7.35;SRC=snv;GRP=s001;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000412115|lncRNA||1/4|ENST00000412115.2:n.347-9652C>G|||||||rs4951859||1||SNV|HGNC|HGNC:50701|YES|||3||||||||||||||0.6400|0.2905|0.7536|0.6875|0.841|0.7761||||||||||0.6769|0.3552|0.822|0.721|0.7766|0.6904|0.7911|0.7532|0.8294|0.7091|0.7612|0.841|EUR|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000429505|lncRNA||1/3|ENST00000429505.6:n.334-9268C>G|||||||rs4951859||1||SNV|HGNC|HGNC:50701||||3||||||||||||||0.6400|0.2905|0.7536|0.6875|0.841|0.7761||||||||||0.6769|0.3552|0.822|0.721|0.7766|0.6904|0.7911|0.7532|0.8294|0.7091|0.7612|0.841|EUR|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000443772|lncRNA||1/3|ENST00000443772.2:n.122-9623C>G|||||||rs4951859||1||SNV|HGNC|HGNC:50701||||3||||||||||||||0.6400|0.2905|0.7536|0.6875|0.841|0.7761||||||||||0.6769|0.3552|0.822|0.721|0.7766|0.6904|0.7911|0.7532|0.8294|0.7091|0.7612|0.841|EUR|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000585745|lncRNA||1/1|ENST00000585745.5:n.125-1171C>G|||||||rs4951859||1||SNV|HGNC|HGNC:50701||||5||||||||||||||0.6400|0.2905|0.7536|0.6875|0.841|0.7761||||||||||0.6769|0.3552|0.822|0.721|0.7766|0.6904|0.7911|0.7532|0.8294|0.7091|0.7612|0.841|EUR|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000585768|lncRNA||1/1|ENST00000585768.5:n.125-7308C>G|||||||rs4951859||1||SNV|HGNC|HGNC:50701||||5||||||||||||||0.6400|0.2905|0.7536|0.6875|0.841|0.7761||||||||||0.6769|0.3552|0.822|0.721|0.7766|0.6904|0.7911|0.7532|0.8294|0.7091|0.7612|0.841|EUR|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000586288|lncRNA||2/6|ENST00000586288.1:n.259-1171C>G|||||||rs4951859||1||SNV|HGNC|HGNC:50701||||5||||||||||||||0.6400|0.2905|0.7536|0.6875|0.841|0.7761||||||||||0.6769|0.3552|0.822|0.721|0.7766|0.6904|0.7911|0.7532|0.8294|0.7091|0.7612|0.841|EUR|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000587530|lncRNA||1/3|ENST00000587530.5:n.125-9268C>G|||||||rs4951859||1||SNV|HGNC|HGNC:50701||||5||||||||||||||0.6400|0.2905|0.7536|0.6875|0.841|0.7761||||||||||0.6769|0.3552|0.822|0.721|0.7766|0.6904|0.7911|0.7532|0.8294|0.7091|0.7612|0.841|EUR|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000588951|lncRNA||1/3|ENST00000588951.5:n.125-9620C>G|||||||rs4951859||1||SNV|HGNC|HGNC:50701||||5||||||||||||||0.6400|0.2905|0.7536|0.6875|0.841|0.7761||||||||||0.6769|0.3552|0.822|0.721|0.7766|0.6904|0.7911|0.7532|0.8294|0.7091|0.7612|0.841|EUR|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000589531|lncRNA||1/3|ENST00000589531.5:n.125-9623C>G|||||||rs4951859||1||SNV|HGNC|HGNC:50701||||5||||||||||||||0.6400|0.2905|0.7536|0.6875|0.841|0.7761||||||||||0.6769|0.3552|0.822|0.721|0.7766|0.6904|0.7911|0.7532|0.8294|0.7091|0.7612|0.841|EUR|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000590848|lncRNA||2/4|ENST00000590848.5:n.285-1171C>G|||||||rs4951859||1||SNV|HGNC|HGNC:50701||||5||||||||||||||0.6400|0.2905|0.7536|0.6875|0.841|0.7761||||||||||0.6769|0.3552|0.822|0.721|0.7766|0.6904|0.7911|0.7532|0.8294|0.7091|0.7612|0.841|EUR|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000591440|lncRNA||1/2|ENST00000591440.5:n.125-9620C>G|||||||rs4951859||1||SNV|HGNC|HGNC:50701||||5||||||||||||||0.6400|0.2905|0.7536|0.6875|0.841|0.7761||||||||||0.6769|0.3552|0.822|0.721|0.7766|0.6904|0.7911|0.7532|0.8294|0.7091|0.7612|0.841|EUR|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000593022|lncRNA||1/3|ENST00000593022.5:n.125-9620C>G|||||||rs4951859||1||SNV|HGNC|HGNC:50701||||5||||||||||||||0.6400|0.2905|0.7536|0.6875|0.841|0.7761||||||||||0.6769|0.3552|0.822|0.721|0.7766|0.6904|0.7911|0.7532|0.8294|0.7091|0.7612|0.841|EUR|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+33371G>C|||||||rs4951859||-1||SNV|||YES|||5||||||||||||||0.6400|0.2905|0.7536|0.6875|0.841|0.7761||||||||||0.6769|0.3552|0.822|0.721|0.7766|0.6904|0.7911|0.7532|0.8294|0.7091|0.7612|0.841|EUR|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+33371G>C|||||||rs4951859||-1||SNV||||||5||||||||||||||0.6400|0.2905|0.7536|0.6875|0.841|0.7761||||||||||0.6769|0.3552|0.822|0.721|0.7766|0.6904|0.7911|0.7532|0.8294|0.7091|0.7612|0.841|EUR|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000651411|lncRNA||1/3|ENST00000651411.1:n.245-9268C>G|||||||rs4951859||1||SNV|HGNC|HGNC:50701||||||||||||||||||0.6400|0.2905|0.7536|0.6875|0.841|0.7761||||||||||0.6769|0.3552|0.822|0.721|0.7766|0.6904|0.7911|0.7532|0.8294|0.7091|0.7612|0.841|EUR|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000655765|lncRNA||1/2|ENST00000655765.1:n.347-9620C>G|||||||rs4951859||1||SNV|HGNC|HGNC:50701||||||||||||||||||0.6400|0.2905|0.7536|0.6875|0.841|0.7761||||||||||0.6769|0.3552|0.822|0.721|0.7766|0.6904|0.7911|0.7532|0.8294|0.7091|0.7612|0.841|EUR|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000656571|lncRNA||1/4|ENST00000656571.1:n.292-9620C>G|||||||rs4951859||1||SNV|HGNC|HGNC:50701||||||||||||||||||0.6400|0.2905|0.7536|0.6875|0.841|0.7761||||||||||0.6769|0.3552|0.822|0.721|0.7766|0.6904|0.7911|0.7532|0.8294|0.7091|0.7612|0.841|EUR|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000657896|lncRNA||1/3|ENST00000657896.1:n.334-9620C>G|||||||rs4951859||1||SNV|HGNC|HGNC:50701||||||||||||||||||0.6400|0.2905|0.7536|0.6875|0.841|0.7761||||||||||0.6769|0.3552|0.822|0.721|0.7766|0.6904|0.7911|0.7532|0.8294|0.7091|0.7612|0.841|EUR|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000658648|lncRNA||1/4|ENST00000658648.1:n.298-9620C>G|||||||rs4951859||1||SNV|HGNC|HGNC:50701||||||||||||||||||0.6400|0.2905|0.7536|0.6875|0.841|0.7761||||||||||0.6769|0.3552|0.822|0.721|0.7766|0.6904|0.7911|0.7532|0.8294|0.7091|0.7612|0.841|EUR|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000665719|lncRNA||1/4|ENST00000665719.1:n.282-9620C>G|||||||rs4951859||1||SNV|HGNC|HGNC:50701||||||||||||||||||0.6400|0.2905|0.7536|0.6875|0.841|0.7761||||||||||0.6769|0.3552|0.822|0.721|0.7766|0.6904|0.7911|0.7532|0.8294|0.7091|0.7612|0.841|EUR|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000666217|lncRNA||1/3|ENST00000666217.1:n.282-9620C>G|||||||rs4951859||1||SNV|HGNC|HGNC:50701||||||||||||||||||0.6400|0.2905|0.7536|0.6875|0.841|0.7761||||||||||0.6769|0.3552|0.822|0.721|0.7766|0.6904|0.7911|0.7532|0.8294|0.7091|0.7612|0.841|EUR|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000669749|lncRNA||1/3|ENST00000669749.1:n.285-9620C>G|||||||rs4951859||1||SNV|HGNC|HGNC:50701||||||||||||||||||0.6400|0.2905|0.7536|0.6875|0.841|0.7761||||||||||0.6769|0.3552|0.822|0.721|0.7766|0.6904|0.7911|0.7532|0.8294|0.7091|0.7612|0.841|EUR|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000670700|lncRNA||1/4|ENST00000670700.1:n.336-9620C>G|||||||rs4951859||1||SNV|HGNC|HGNC:50701||||||||||||||||||0.6400|0.2905|0.7536|0.6875|0.841|0.7761||||||||||0.6769|0.3552|0.822|0.721|0.7766|0.6904|0.7911|0.7532|0.8294|0.7091|0.7612|0.841|EUR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 797585 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=2;GERMQ=46;MBQ=0,32;MFRL=0,0;MMQ=60,31;MPOS=21;POPAF=7.3;TLOD=6.85;SRC=snv;GRP=s001;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000412115|lncRNA||1/4|ENST00000412115.2:n.347-6366G>T|||||||||1||SNV|HGNC|HGNC:50701|YES|||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000429505|lncRNA||1/3|ENST00000429505.6:n.334-5982G>T|||||||||1||SNV|HGNC|HGNC:50701||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000443772|lncRNA||1/3|ENST00000443772.2:n.122-6337G>T|||||||||1||SNV|HGNC|HGNC:50701||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000290784|Transcript|ENST00000447500|lncRNA|||||||||||3294|-1||SNV|||YES|||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000585745|lncRNA|||||||||||2072|1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000585768|lncRNA||1/1|ENST00000585768.5:n.125-4022G>T|||||||||1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000586288|lncRNA||3/6|ENST00000586288.1:n.371+2003G>T|||||||||1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000587530|lncRNA||1/3|ENST00000587530.5:n.125-5982G>T|||||||||1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000588951|lncRNA||1/3|ENST00000588951.5:n.125-6334G>T|||||||||1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000589531|lncRNA||1/3|ENST00000589531.5:n.125-6337G>T|||||||||1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000590848|lncRNA||3/4|ENST00000590848.5:n.397+2003G>T|||||||||1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000591440|lncRNA||1/2|ENST00000591440.5:n.125-6334G>T|||||||||1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000593022|lncRNA||1/3|ENST00000593022.5:n.125-6334G>T|||||||||1||SNV|HGNC|HGNC:50701||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+30085C>A|||||||||-1||SNV|||YES|||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+30085C>A|||||||||-1||SNV||||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000651411|lncRNA||1/3|ENST00000651411.1:n.245-5982G>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000655765|lncRNA||1/2|ENST00000655765.1:n.347-6334G>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000656571|lncRNA||1/4|ENST00000656571.1:n.292-6334G>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000657896|lncRNA||1/3|ENST00000657896.1:n.334-6334G>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000658648|lncRNA||1/4|ENST00000658648.1:n.298-6334G>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000665719|lncRNA||1/4|ENST00000665719.1:n.282-6334G>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000666217|lncRNA||1/3|ENST00000666217.1:n.282-6334G>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000669749|lncRNA||1/3|ENST00000669749.1:n.285-6334G>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000670700|lncRNA||1/4|ENST00000670700.1:n.336-6334G>T|||||||||1||SNV|HGNC|HGNC:50701||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918343|enhancer||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 797609 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=2;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,31;MPOS=7;POPAF=7.3;TLOD=3.28;SRC=snv;GRP=s001;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000412115|lncRNA||1/4|ENST00000412115.2:n.347-6342C>T|||||||rs369030935||1||SNV|HGNC|HGNC:50701|YES|||3||||||||||||||0.0094|0.0008|0.0101|0|0.0219|0.0174||||||||||0.01698|0.005171|0.0307|0.01658|0.01008|0|0.008297|0.01582|0.02698|0.01579|0.01893|0.0307|gnomADg_AMI|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000429505|lncRNA||1/3|ENST00000429505.6:n.334-5958C>T|||||||rs369030935||1||SNV|HGNC|HGNC:50701||||3||||||||||||||0.0094|0.0008|0.0101|0|0.0219|0.0174||||||||||0.01698|0.005171|0.0307|0.01658|0.01008|0|0.008297|0.01582|0.02698|0.01579|0.01893|0.0307|gnomADg_AMI|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000443772|lncRNA||1/3|ENST00000443772.2:n.122-6313C>T|||||||rs369030935||1||SNV|HGNC|HGNC:50701||||3||||||||||||||0.0094|0.0008|0.0101|0|0.0219|0.0174||||||||||0.01698|0.005171|0.0307|0.01658|0.01008|0|0.008297|0.01582|0.02698|0.01579|0.01893|0.0307|gnomADg_AMI|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000290784|Transcript|ENST00000447500|lncRNA||||||||||rs369030935|3270|-1||SNV|||YES|||5||||||||||||||0.0094|0.0008|0.0101|0|0.0219|0.0174||||||||||0.01698|0.005171|0.0307|0.01658|0.01008|0|0.008297|0.01582|0.02698|0.01579|0.01893|0.0307|gnomADg_AMI|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000585745|lncRNA||||||||||rs369030935|2096|1||SNV|HGNC|HGNC:50701||||5||||||||||||||0.0094|0.0008|0.0101|0|0.0219|0.0174||||||||||0.01698|0.005171|0.0307|0.01658|0.01008|0|0.008297|0.01582|0.02698|0.01579|0.01893|0.0307|gnomADg_AMI|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000585768|lncRNA||1/1|ENST00000585768.5:n.125-3998C>T|||||||rs369030935||1||SNV|HGNC|HGNC:50701||||5||||||||||||||0.0094|0.0008|0.0101|0|0.0219|0.0174||||||||||0.01698|0.005171|0.0307|0.01658|0.01008|0|0.008297|0.01582|0.02698|0.01579|0.01893|0.0307|gnomADg_AMI|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000586288|lncRNA||3/6|ENST00000586288.1:n.371+2027C>T|||||||rs369030935||1||SNV|HGNC|HGNC:50701||||5||||||||||||||0.0094|0.0008|0.0101|0|0.0219|0.0174||||||||||0.01698|0.005171|0.0307|0.01658|0.01008|0|0.008297|0.01582|0.02698|0.01579|0.01893|0.0307|gnomADg_AMI|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000587530|lncRNA||1/3|ENST00000587530.5:n.125-5958C>T|||||||rs369030935||1||SNV|HGNC|HGNC:50701||||5||||||||||||||0.0094|0.0008|0.0101|0|0.0219|0.0174||||||||||0.01698|0.005171|0.0307|0.01658|0.01008|0|0.008297|0.01582|0.02698|0.01579|0.01893|0.0307|gnomADg_AMI|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000588951|lncRNA||1/3|ENST00000588951.5:n.125-6310C>T|||||||rs369030935||1||SNV|HGNC|HGNC:50701||||5||||||||||||||0.0094|0.0008|0.0101|0|0.0219|0.0174||||||||||0.01698|0.005171|0.0307|0.01658|0.01008|0|0.008297|0.01582|0.02698|0.01579|0.01893|0.0307|gnomADg_AMI|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000589531|lncRNA||1/3|ENST00000589531.5:n.125-6313C>T|||||||rs369030935||1||SNV|HGNC|HGNC:50701||||5||||||||||||||0.0094|0.0008|0.0101|0|0.0219|0.0174||||||||||0.01698|0.005171|0.0307|0.01658|0.01008|0|0.008297|0.01582|0.02698|0.01579|0.01893|0.0307|gnomADg_AMI|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000590848|lncRNA||3/4|ENST00000590848.5:n.397+2027C>T|||||||rs369030935||1||SNV|HGNC|HGNC:50701||||5||||||||||||||0.0094|0.0008|0.0101|0|0.0219|0.0174||||||||||0.01698|0.005171|0.0307|0.01658|0.01008|0|0.008297|0.01582|0.02698|0.01579|0.01893|0.0307|gnomADg_AMI|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000591440|lncRNA||1/2|ENST00000591440.5:n.125-6310C>T|||||||rs369030935||1||SNV|HGNC|HGNC:50701||||5||||||||||||||0.0094|0.0008|0.0101|0|0.0219|0.0174||||||||||0.01698|0.005171|0.0307|0.01658|0.01008|0|0.008297|0.01582|0.02698|0.01579|0.01893|0.0307|gnomADg_AMI|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000593022|lncRNA||1/3|ENST00000593022.5:n.125-6310C>T|||||||rs369030935||1||SNV|HGNC|HGNC:50701||||5||||||||||||||0.0094|0.0008|0.0101|0|0.0219|0.0174||||||||||0.01698|0.005171|0.0307|0.01658|0.01008|0|0.008297|0.01582|0.02698|0.01579|0.01893|0.0307|gnomADg_AMI|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+30061G>A|||||||rs369030935||-1||SNV|||YES|||5||||||||||||||0.0094|0.0008|0.0101|0|0.0219|0.0174||||||||||0.01698|0.005171|0.0307|0.01658|0.01008|0|0.008297|0.01582|0.02698|0.01579|0.01893|0.0307|gnomADg_AMI|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+30061G>A|||||||rs369030935||-1||SNV||||||5||||||||||||||0.0094|0.0008|0.0101|0|0.0219|0.0174||||||||||0.01698|0.005171|0.0307|0.01658|0.01008|0|0.008297|0.01582|0.02698|0.01579|0.01893|0.0307|gnomADg_AMI|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000651411|lncRNA||1/3|ENST00000651411.1:n.245-5958C>T|||||||rs369030935||1||SNV|HGNC|HGNC:50701||||||||||||||||||0.0094|0.0008|0.0101|0|0.0219|0.0174||||||||||0.01698|0.005171|0.0307|0.01658|0.01008|0|0.008297|0.01582|0.02698|0.01579|0.01893|0.0307|gnomADg_AMI|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000655765|lncRNA||1/2|ENST00000655765.1:n.347-6310C>T|||||||rs369030935||1||SNV|HGNC|HGNC:50701||||||||||||||||||0.0094|0.0008|0.0101|0|0.0219|0.0174||||||||||0.01698|0.005171|0.0307|0.01658|0.01008|0|0.008297|0.01582|0.02698|0.01579|0.01893|0.0307|gnomADg_AMI|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000656571|lncRNA||1/4|ENST00000656571.1:n.292-6310C>T|||||||rs369030935||1||SNV|HGNC|HGNC:50701||||||||||||||||||0.0094|0.0008|0.0101|0|0.0219|0.0174||||||||||0.01698|0.005171|0.0307|0.01658|0.01008|0|0.008297|0.01582|0.02698|0.01579|0.01893|0.0307|gnomADg_AMI|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000657896|lncRNA||1/3|ENST00000657896.1:n.334-6310C>T|||||||rs369030935||1||SNV|HGNC|HGNC:50701||||||||||||||||||0.0094|0.0008|0.0101|0|0.0219|0.0174||||||||||0.01698|0.005171|0.0307|0.01658|0.01008|0|0.008297|0.01582|0.02698|0.01579|0.01893|0.0307|gnomADg_AMI|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000658648|lncRNA||1/4|ENST00000658648.1:n.298-6310C>T|||||||rs369030935||1||SNV|HGNC|HGNC:50701||||||||||||||||||0.0094|0.0008|0.0101|0|0.0219|0.0174||||||||||0.01698|0.005171|0.0307|0.01658|0.01008|0|0.008297|0.01582|0.02698|0.01579|0.01893|0.0307|gnomADg_AMI|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000665719|lncRNA||1/4|ENST00000665719.1:n.282-6310C>T|||||||rs369030935||1||SNV|HGNC|HGNC:50701||||||||||||||||||0.0094|0.0008|0.0101|0|0.0219|0.0174||||||||||0.01698|0.005171|0.0307|0.01658|0.01008|0|0.008297|0.01582|0.02698|0.01579|0.01893|0.0307|gnomADg_AMI|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000666217|lncRNA||1/3|ENST00000666217.1:n.282-6310C>T|||||||rs369030935||1||SNV|HGNC|HGNC:50701||||||||||||||||||0.0094|0.0008|0.0101|0|0.0219|0.0174||||||||||0.01698|0.005171|0.0307|0.01658|0.01008|0|0.008297|0.01582|0.02698|0.01579|0.01893|0.0307|gnomADg_AMI|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000669749|lncRNA||1/3|ENST00000669749.1:n.285-6310C>T|||||||rs369030935||1||SNV|HGNC|HGNC:50701||||||||||||||||||0.0094|0.0008|0.0101|0|0.0219|0.0174||||||||||0.01698|0.005171|0.0307|0.01658|0.01008|0|0.008297|0.01582|0.02698|0.01579|0.01893|0.0307|gnomADg_AMI|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01409|ENSG00000237491|Transcript|ENST00000670700|lncRNA||1/4|ENST00000670700.1:n.336-6310C>T|||||||rs369030935||1||SNV|HGNC|HGNC:50701||||||||||||||||||0.0094|0.0008|0.0101|0|0.0219|0.0174||||||||||0.01698|0.005171|0.0307|0.01658|0.01008|0|0.008297|0.01582|0.02698|0.01579|0.01893|0.0307|gnomADg_AMI|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918343|enhancer||||||||||rs369030935||||SNV||||||||||||||||||||0.0094|0.0008|0.0101|0|0.0219|0.0174||||||||||0.01698|0.005171|0.0307|0.01658|0.01008|0|0.008297|0.01582|0.02698|0.01579|0.01893|0.0307|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,0:0,1:0,0,0,1 -chr1 817186 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|6%2C5;DP=12;ECNT=4;GERMQ=72;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=45;POPAF=7.3;TLOD=33.35;SRC=snv;GRP=s001;CSQ=A|upstream_gene_variant|MODIFIER|FAM87B|ENSG00000177757|Transcript|ENST00000326734|lncRNA||||||||||rs3094315|185|1||SNV|HGNC|HGNC:32236|YES|||2||||||||||||||0.7183|0.3873|0.804|0.8839|0.84|0.8088||||||||||0.712|0.4357|0.7368|0.7852|0.7844|0.888|0.7968|0.7563|0.8258|0.7467|0.7927|0.888|gnomADg_EAS||||21159730&21492446&23664118&19096721|||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290784|Transcript|ENST00000447500|lncRNA||1/4|ENST00000447500.4:n.340+187C>T|||||||rs3094315||-1||SNV|||YES|||5||||||||||||||0.7183|0.3873|0.804|0.8839|0.84|0.8088||||||||||0.712|0.4357|0.7368|0.7852|0.7844|0.888|0.7968|0.7563|0.8258|0.7467|0.7927|0.888|gnomADg_EAS||||21159730&21492446&23664118&19096721|||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+10484C>T|||||||rs3094315||-1||SNV|||YES|||5||||||||||||||0.7183|0.3873|0.804|0.8839|0.84|0.8088||||||||||0.712|0.4357|0.7368|0.7852|0.7844|0.888|0.7968|0.7563|0.8258|0.7467|0.7927|0.888|gnomADg_EAS||||21159730&21492446&23664118&19096721|||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+10484C>T|||||||rs3094315||-1||SNV||||||5||||||||||||||0.7183|0.3873|0.804|0.8839|0.84|0.8088||||||||||0.712|0.4357|0.7368|0.7852|0.7844|0.888|0.7968|0.7563|0.8258|0.7467|0.7927|0.888|gnomADg_EAS||||21159730&21492446&23664118&19096721|||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000085|promoter||||||||||rs3094315||||SNV||||||||||||||||||||0.7183|0.3873|0.804|0.8839|0.84|0.8088||||||||||0.712|0.4357|0.7368|0.7852|0.7844|0.888|0.7968|0.7563|0.8258|0.7467|0.7927|0.888|gnomADg_EAS||||21159730&21492446&23664118&19096721||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,11:0.889:11:0,1:0,5:0,7:0,0,6,5 -chr1 817257 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=3%2C1|2%2C4;DP=10;ECNT=4;GERMQ=35;MBQ=31,34;MFRL=0,0;MMQ=45,60;MPOS=77;POPAF=7.3;TLOD=20.61;SRC=snv;GRP=s001;CSQ=C|upstream_gene_variant|MODIFIER|FAM87B|ENSG00000177757|Transcript|ENST00000326734|lncRNA||||||||||rs1638455496|114|1||SNV|HGNC|HGNC:32236|YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290784|Transcript|ENST00000447500|lncRNA||1/4|ENST00000447500.4:n.340+116A>G|||||||rs1638455496||-1||SNV|||YES|||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+10413A>G|||||||rs1638455496||-1||SNV|||YES|||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+10413A>G|||||||rs1638455496||-1||SNV||||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000085|promoter||||||||||rs1638455496||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,6:0.556:10:0,0:3,2:3,4:3,1,2,4 -chr1 818094 . C G . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|2%2C1;DP=3;ECNT=1;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,28;MPOS=26;POPAF=7.3;TLOD=9.35;SRC=snv;GRP=s001;CSQ=G|non_coding_transcript_exon_variant|MODIFIER|FAM87B|ENSG00000177757|Transcript|ENST00000326734|lncRNA|1/2||ENST00000326734.2:n.724C>G||724|||||rs2073814||1||SNV|HGNC|HGNC:32236|YES|||2||||||||||||||0.6114|0.1672|0.7233|0.7292|0.838|0.7781||||||||||0.6462|0.2551|0.74|0.7075|0.7763|0.7268|0.7954|0.7342|0.8229|0.6887|0.7668|0.838|EUR|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000290784|Transcript|ENST00000447500|lncRNA||||||||||rs2073814|382|-1||SNV|||YES|||5||||||||||||||0.6114|0.1672|0.7233|0.7292|0.838|0.7781||||||||||0.6462|0.2551|0.74|0.7075|0.7763|0.7268|0.7954|0.7342|0.8229|0.6887|0.7668|0.838|EUR|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+9576G>C|||||||rs2073814||-1||SNV|||YES|||5||||||||||||||0.6114|0.1672|0.7233|0.7292|0.838|0.7781||||||||||0.6462|0.2551|0.74|0.7075|0.7763|0.7268|0.7954|0.7342|0.8229|0.6887|0.7668|0.838|EUR|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+9576G>C|||||||rs2073814||-1||SNV||||||5||||||||||||||0.6114|0.1672|0.7233|0.7292|0.838|0.7781||||||||||0.6462|0.2551|0.74|0.7075|0.7763|0.7268|0.7954|0.7342|0.8229|0.6887|0.7668|0.838|EUR|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000085|promoter||||||||||rs2073814||||SNV||||||||||||||||||||0.6114|0.1672|0.7233|0.7292|0.838|0.7781||||||||||0.6462|0.2551|0.74|0.7075|0.7763|0.7268|0.7954|0.7342|0.8229|0.6887|0.7668|0.838|EUR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,0:0,2:0,2:0,0,2,1 -chr1 818802 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C2;DP=6;ECNT=2;GERMQ=58;MBQ=0,32;MFRL=0,0;MMQ=60,41;MPOS=94;POPAF=7.3;TLOD=26.3;SRC=snv;GRP=s001;CSQ=G|non_coding_transcript_exon_variant|MODIFIER|FAM87B|ENSG00000177757|Transcript|ENST00000326734|lncRNA|2/2||ENST00000326734.2:n.912A>G||912|||||rs3131969||1||SNV|HGNC|HGNC:32236|YES|||2||||||||||||||0.6785|0.3525|0.7565|0.7331|0.8718|0.8088||||||||||0.71|0.4015|0.771|0.7436|0.8458|0.7284|0.8074|0.8097|0.8575|0.7483|0.8041|0.8718|EUR|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000290784|Transcript|ENST00000447500|lncRNA||||||||||rs3131969|1090|-1||SNV|||YES|||5||||||||||||||0.6785|0.3525|0.7565|0.7331|0.8718|0.8088||||||||||0.71|0.4015|0.771|0.7436|0.8458|0.7284|0.8074|0.8097|0.8575|0.7483|0.8041|0.8718|EUR|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+8868T>C|||||||rs3131969||-1||SNV|||YES|||5||||||||||||||0.6785|0.3525|0.7565|0.7331|0.8718|0.8088||||||||||0.71|0.4015|0.771|0.7436|0.8458|0.7284|0.8074|0.8097|0.8575|0.7483|0.8041|0.8718|EUR|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+8868T>C|||||||rs3131969||-1||SNV||||||5||||||||||||||0.6785|0.3525|0.7565|0.7331|0.8718|0.8088||||||||||0.71|0.4015|0.771|0.7436|0.8458|0.7284|0.8074|0.8097|0.8575|0.7483|0.8041|0.8718|EUR|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000085|promoter||||||||||rs3131969||||SNV||||||||||||||||||||0.6785|0.3525|0.7565|0.7331|0.8718|0.8088||||||||||0.71|0.4015|0.771|0.7436|0.8458|0.7284|0.8074|0.8097|0.8575|0.7483|0.8041|0.8718|EUR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,6:0.833:6:0,0:0,4:0,4:0|1:818802_A_G:818802:0,0,4,2 -chr1 818812 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C2;DP=6;ECNT=2;GERMQ=58;MBQ=0,32;MFRL=0,0;MMQ=60,41;MPOS=85;POPAF=7.3;TLOD=26.3;SRC=snv;GRP=s001;CSQ=G|non_coding_transcript_exon_variant|MODIFIER|FAM87B|ENSG00000177757|Transcript|ENST00000326734|lncRNA|2/2||ENST00000326734.2:n.922A>G||922|||||rs3131968||1||SNV|HGNC|HGNC:32236|YES|||2||||||||||||||0.6785|0.3525|0.7565|0.7331|0.8718|0.8088||||||||||0.7106|0.4024|0.7721|0.7438|0.8459|0.7294|0.8073|0.8109|0.8575|0.75|0.8042|0.8718|EUR|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000290784|Transcript|ENST00000447500|lncRNA||||||||||rs3131968|1100|-1||SNV|||YES|||5||||||||||||||0.6785|0.3525|0.7565|0.7331|0.8718|0.8088||||||||||0.7106|0.4024|0.7721|0.7438|0.8459|0.7294|0.8073|0.8109|0.8575|0.75|0.8042|0.8718|EUR|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+8858T>C|||||||rs3131968||-1||SNV|||YES|||5||||||||||||||0.6785|0.3525|0.7565|0.7331|0.8718|0.8088||||||||||0.7106|0.4024|0.7721|0.7438|0.8459|0.7294|0.8073|0.8109|0.8575|0.75|0.8042|0.8718|EUR|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+8858T>C|||||||rs3131968||-1||SNV||||||5||||||||||||||0.6785|0.3525|0.7565|0.7331|0.8718|0.8088||||||||||0.7106|0.4024|0.7721|0.7438|0.8459|0.7294|0.8073|0.8109|0.8575|0.75|0.8042|0.8718|EUR|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000085|promoter||||||||||rs3131968||||SNV||||||||||||||||||||0.6785|0.3525|0.7565|0.7331|0.8718|0.8088||||||||||0.7106|0.4024|0.7721|0.7438|0.8459|0.7294|0.8073|0.8109|0.8575|0.75|0.8042|0.8718|EUR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,6:0.833:6:0,0:0,4:0,4:0|1:818802_A_G:818802:0,0,4,2 -chr1 818954 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=1;GERMQ=49;MBQ=0,32;MFRL=0,0;MMQ=60,41;MPOS=53;POPAF=7.3;TLOD=10.35;SRC=snv;GRP=s001;CSQ=C|non_coding_transcript_exon_variant|MODIFIER|FAM87B|ENSG00000177757|Transcript|ENST00000326734|lncRNA|2/2||ENST00000326734.2:n.1064T>C||1064|||||rs3131967||1||SNV|HGNC|HGNC:32236|YES|||2||||||||||||||0.6843|0.3525|0.755|0.7629|0.8718|0.8088||||||||||0.7112|0.4012|0.7736|0.7442|0.846|0.7586|0.8066|0.8101|0.8577|0.7522|0.8033|0.8718|EUR|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000290784|Transcript|ENST00000447500|lncRNA||||||||||rs3131967|1242|-1||SNV|||YES|||5||||||||||||||0.6843|0.3525|0.755|0.7629|0.8718|0.8088||||||||||0.7112|0.4012|0.7736|0.7442|0.846|0.7586|0.8066|0.8101|0.8577|0.7522|0.8033|0.8718|EUR|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+8716A>G|||||||rs3131967||-1||SNV|||YES|||5||||||||||||||0.6843|0.3525|0.755|0.7629|0.8718|0.8088||||||||||0.7112|0.4012|0.7736|0.7442|0.846|0.7586|0.8066|0.8101|0.8577|0.7522|0.8033|0.8718|EUR|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+8716A>G|||||||rs3131967||-1||SNV||||||5||||||||||||||0.6843|0.3525|0.755|0.7629|0.8718|0.8088||||||||||0.7112|0.4012|0.7736|0.7442|0.846|0.7586|0.8066|0.8101|0.8577|0.7522|0.8033|0.8718|EUR|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000085|promoter||||||||||rs3131967||||SNV||||||||||||||||||||0.6843|0.3525|0.755|0.7629|0.8718|0.8088||||||||||0.7112|0.4012|0.7736|0.7442|0.846|0.7586|0.8066|0.8101|0.8577|0.7522|0.8033|0.8718|EUR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.8:3:0,2:0,1:0,3:0,0,1,2 -chr1 819123 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C3;DP=6;ECNT=1;GERMQ=58;MBQ=0,33;MFRL=0,0;MMQ=60,54;MPOS=85;POPAF=7.3;TLOD=21.26;SRC=snv;GRP=s001;CSQ=A|non_coding_transcript_exon_variant|MODIFIER|FAM87B|ENSG00000177757|Transcript|ENST00000326734|lncRNA|2/2||ENST00000326734.2:n.1233G>A||1233|||||rs3115859||1||SNV|HGNC|HGNC:32236|YES|||2||||||||||||||0.6639|0.3374|0.7378|0.7629|0.839|0.771||||||||||0.687|0.3884|0.7363|0.7274|0.7761|0.7593|0.7956|0.7532|0.8248|0.7205|0.7651|0.839|EUR|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000290784|Transcript|ENST00000447500|lncRNA||||||||||rs3115859|1411|-1||SNV|||YES|||5||||||||||||||0.6639|0.3374|0.7378|0.7629|0.839|0.771||||||||||0.687|0.3884|0.7363|0.7274|0.7761|0.7593|0.7956|0.7532|0.8248|0.7205|0.7651|0.839|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+8547C>T|||||||rs3115859||-1||SNV|||YES|||5||||||||||||||0.6639|0.3374|0.7378|0.7629|0.839|0.771||||||||||0.687|0.3884|0.7363|0.7274|0.7761|0.7593|0.7956|0.7532|0.8248|0.7205|0.7651|0.839|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+8547C>T|||||||rs3115859||-1||SNV||||||5||||||||||||||0.6639|0.3374|0.7378|0.7629|0.839|0.771||||||||||0.687|0.3884|0.7363|0.7274|0.7761|0.7593|0.7956|0.7532|0.8248|0.7205|0.7651|0.839|EUR|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000085|promoter||||||||||rs3115859||||SNV||||||||||||||||||||0.6639|0.3374|0.7378|0.7629|0.839|0.771||||||||||0.687|0.3884|0.7363|0.7274|0.7761|0.7593|0.7956|0.7532|0.8248|0.7205|0.7651|0.839|EUR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.833:6:0,1:0,3:0,4:0,0,3,3 -chr1 819584 . C T . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,32;MFRL=0,0;MMQ=60,21;MPOS=29;POPAF=7.3;TLOD=4.85;SRC=snv;GRP=s001;CSQ=T|non_coding_transcript_exon_variant|MODIFIER|FAM87B|ENSG00000177757|Transcript|ENST00000326734|lncRNA|2/2||ENST00000326734.2:n.1694C>T||1694|||||rs3131966||1||SNV|HGNC|HGNC:32236|YES|||2||||||||||||||0.6633|0.3366|0.7378|0.7629|0.837|0.771||||||||||0.6866|0.3877|0.7374|0.7259|0.7761|0.7589|0.7956|0.7532|0.8248|0.7196|0.7641|0.837|EUR|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000290784|Transcript|ENST00000447500|lncRNA||||||||||rs3131966|1872|-1||SNV|||YES|||5||||||||||||||0.6633|0.3366|0.7378|0.7629|0.837|0.771||||||||||0.6866|0.3877|0.7374|0.7259|0.7761|0.7589|0.7956|0.7532|0.8248|0.7196|0.7641|0.837|EUR|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC00115|ENSG00000225880|Transcript|ENST00000473798|lncRNA||||||||||rs3131966|4644|-1||SNV|HGNC|HGNC:26211|YES|||||||||||||||||0.6633|0.3366|0.7378|0.7629|0.837|0.771||||||||||0.6866|0.3877|0.7374|0.7259|0.7761|0.7589|0.7956|0.7532|0.8248|0.7196|0.7641|0.837|EUR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+8086G>A|||||||rs3131966||-1||SNV|||YES|||5||||||||||||||0.6633|0.3366|0.7378|0.7629|0.837|0.771||||||||||0.6866|0.3877|0.7374|0.7259|0.7761|0.7589|0.7956|0.7532|0.8248|0.7196|0.7641|0.837|EUR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+8086G>A|||||||rs3131966||-1||SNV||||||5||||||||||||||0.6633|0.3366|0.7378|0.7629|0.837|0.771||||||||||0.6866|0.3877|0.7374|0.7259|0.7761|0.7589|0.7956|0.7532|0.8248|0.7196|0.7641|0.837|EUR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 820395 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=111;POPAF=7.3;TLOD=7.35;SRC=snv;GRP=s001;CSQ=G|downstream_gene_variant|MODIFIER|FAM87B|ENSG00000177757|Transcript|ENST00000326734|lncRNA||||||||||rs3131965|558|1||SNV|HGNC|HGNC:32236|YES|||2|||||||||||||||||||||||||||||0.6612|0.4243|0.6804|0.7255|0.7446|0.8259|0.744|0.645|0.7683|0.6893|0.7359|0.8259|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000290784|Transcript|ENST00000447500|lncRNA||||||||||rs3131965|2683|-1||SNV|||YES|||5|||||||||||||||||||||||||||||0.6612|0.4243|0.6804|0.7255|0.7446|0.8259|0.744|0.645|0.7683|0.6893|0.7359|0.8259|gnomADg_EAS|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC00115|ENSG00000225880|Transcript|ENST00000473798|lncRNA||||||||||rs3131965|3833|-1||SNV|HGNC|HGNC:26211|YES||||||||||||||||||||||||||||||||0.6612|0.4243|0.6804|0.7255|0.7446|0.8259|0.744|0.645|0.7683|0.6893|0.7359|0.8259|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||||||||||rs3131965|4743|1||SNV|HGNC|HGNC:49377||||5|||||||||||||||||||||||||||||0.6612|0.4243|0.6804|0.7255|0.7446|0.8259|0.744|0.645|0.7683|0.6893|0.7359|0.8259|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+7275T>C|||||||rs3131965||-1||SNV|||YES|||5|||||||||||||||||||||||||||||0.6612|0.4243|0.6804|0.7255|0.7446|0.8259|0.744|0.645|0.7683|0.6893|0.7359|0.8259|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+7275T>C|||||||rs3131965||-1||SNV||||||5|||||||||||||||||||||||||||||0.6612|0.4243|0.6804|0.7255|0.7446|0.8259|0.744|0.645|0.7683|0.6893|0.7359|0.8259|gnomADg_EAS|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918348|enhancer||||||||||rs3131965||||SNV|||||||||||||||||||||||||||||||||||0.6612|0.4243|0.6804|0.7255|0.7446|0.8259|0.744|0.645|0.7683|0.6893|0.7359|0.8259|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 821000 . T A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,29;MFRL=0,0;MMQ=60,60;MPOS=83;POPAF=7.3;TLOD=3.08;SRC=snv;GRP=s001;CSQ=A|downstream_gene_variant|MODIFIER|FAM87B|ENSG00000177757|Transcript|ENST00000326734|lncRNA||||||||||rs3131963|1163|1||SNV|HGNC|HGNC:32236|YES|||2||||||||||||||0.4611|0.3374|0.4971|0.5139|0.507|0.501||||||||||0.6321|0.4294|0.6443|0.6926|0.6939|0.7595|0.6964|0.6779|0.7142|0.6539|0.6839|0.7595|gnomADg_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000290784|Transcript|ENST00000447500|lncRNA||||||||||rs3131963|3288|-1||SNV|||YES|||5||||||||||||||0.4611|0.3374|0.4971|0.5139|0.507|0.501||||||||||0.6321|0.4294|0.6443|0.6926|0.6939|0.7595|0.6964|0.6779|0.7142|0.6539|0.6839|0.7595|gnomADg_EAS|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC00115|ENSG00000225880|Transcript|ENST00000473798|lncRNA||||||||||rs3131963|3228|-1||SNV|HGNC|HGNC:26211|YES|||||||||||||||||0.4611|0.3374|0.4971|0.5139|0.507|0.501||||||||||0.6321|0.4294|0.6443|0.6926|0.6939|0.7595|0.6964|0.6779|0.7142|0.6539|0.6839|0.7595|gnomADg_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||||||||||rs3131963|4138|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.4611|0.3374|0.4971|0.5139|0.507|0.501||||||||||0.6321|0.4294|0.6443|0.6926|0.6939|0.7595|0.6964|0.6779|0.7142|0.6539|0.6839|0.7595|gnomADg_EAS|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+6670A>T|||||||rs3131963||-1||SNV|||YES|||5||||||||||||||0.4611|0.3374|0.4971|0.5139|0.507|0.501||||||||||0.6321|0.4294|0.6443|0.6926|0.6939|0.7595|0.6964|0.6779|0.7142|0.6539|0.6839|0.7595|gnomADg_EAS|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+6670A>T|||||||rs3131963||-1||SNV||||||5||||||||||||||0.4611|0.3374|0.4971|0.5139|0.507|0.501||||||||||0.6321|0.4294|0.6443|0.6926|0.6939|0.7595|0.6964|0.6779|0.7142|0.6539|0.6839|0.7595|gnomADg_EAS|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918348|enhancer||||||||||rs3131963||||SNV||||||||||||||||||||0.4611|0.3374|0.4971|0.5139|0.507|0.501||||||||||0.6321|0.4294|0.6443|0.6926|0.6939|0.7595|0.6964|0.6779|0.7142|0.6539|0.6839|0.7595|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 822354 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,28;MFRL=0,0;MMQ=60,60;MPOS=101;POPAF=7.3;TLOD=6.25;SRC=snv;GRP=s001;CSQ=T|downstream_gene_variant|MODIFIER|FAM87B|ENSG00000177757|Transcript|ENST00000326734|lncRNA||||||||||rs4951929|2517|1||SNV|HGNC|HGNC:32236|YES|||2||||||||||||||0.7482|0.4463|0.8213|0.8839|0.8728|0.8364||||||||||0.7434|0.4757|0.7673|0.8061|0.8511|0.8893|0.8071|0.8089|0.8566|0.7789|0.826|0.8893|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000290784|Transcript|ENST00000447500|lncRNA||||||||||rs4951929|4642|-1||SNV|||YES|||5||||||||||||||0.7482|0.4463|0.8213|0.8839|0.8728|0.8364||||||||||0.7434|0.4757|0.7673|0.8061|0.8511|0.8893|0.8071|0.8089|0.8566|0.7789|0.826|0.8893|gnomADg_EAS|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC00115|ENSG00000225880|Transcript|ENST00000473798|lncRNA||||||||||rs4951929|1874|-1||SNV|HGNC|HGNC:26211|YES|||||||||||||||||0.7482|0.4463|0.8213|0.8839|0.8728|0.8364||||||||||0.7434|0.4757|0.7673|0.8061|0.8511|0.8893|0.8071|0.8089|0.8566|0.7789|0.826|0.8893|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA||||||||||rs4951929|4478|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7482|0.4463|0.8213|0.8839|0.8728|0.8364||||||||||0.7434|0.4757|0.7673|0.8061|0.8511|0.8893|0.8071|0.8089|0.8566|0.7789|0.826|0.8893|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||||||||||rs4951929|2784|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7482|0.4463|0.8213|0.8839|0.8728|0.8364||||||||||0.7434|0.4757|0.7673|0.8061|0.8511|0.8893|0.8071|0.8089|0.8566|0.7789|0.826|0.8893|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+5316G>A|||||||rs4951929||-1||SNV|||YES|||5||||||||||||||0.7482|0.4463|0.8213|0.8839|0.8728|0.8364||||||||||0.7434|0.4757|0.7673|0.8061|0.8511|0.8893|0.8071|0.8089|0.8566|0.7789|0.826|0.8893|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+5316G>A|||||||rs4951929||-1||SNV||||||5||||||||||||||0.7482|0.4463|0.8213|0.8839|0.8728|0.8364||||||||||0.7434|0.4757|0.7673|0.8061|0.8511|0.8893|0.8071|0.8089|0.8566|0.7789|0.826|0.8893|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||||||||||rs4951929|4499|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7482|0.4463|0.8213|0.8839|0.8728|0.8364||||||||||0.7434|0.4757|0.7673|0.8061|0.8511|0.8893|0.8071|0.8089|0.8566|0.7789|0.826|0.8893|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 822764 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=122;POPAF=7.3;TLOD=7.15;SRC=snv;GRP=s001;CSQ=G|downstream_gene_variant|MODIFIER|FAM87B|ENSG00000177757|Transcript|ENST00000326734|lncRNA||||||||||rs3131956|2927|1||SNV|HGNC|HGNC:32236|YES|||2||||||||||||||0.7402|0.4425|0.817|0.8839|0.8608|0.816||||||||||0.7597|0.5167|0.7793|0.809|0.854|0.8897|0.8123|0.7905|0.8551|0.7923|0.833|0.8897|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA||||||||||rs3131956|4903|1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.7402|0.4425|0.817|0.8839|0.8608|0.816||||||||||0.7597|0.5167|0.7793|0.809|0.854|0.8897|0.8123|0.7905|0.8551|0.7923|0.833|0.8897|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000441765|lncRNA||||||||||rs3131956|4903|1||SNV|HGNC|HGNC:49377||||2||||||||||||||0.7402|0.4425|0.817|0.8839|0.8608|0.816||||||||||0.7597|0.5167|0.7793|0.809|0.854|0.8897|0.8123|0.7905|0.8551|0.7923|0.833|0.8897|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA||||||||||rs3131956|4834|1||SNV|HGNC|HGNC:49377|YES|||1||||||||||||||0.7402|0.4425|0.817|0.8839|0.8608|0.816||||||||||0.7597|0.5167|0.7793|0.809|0.854|0.8897|0.8123|0.7905|0.8551|0.7923|0.833|0.8897|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA||||||||||rs3131956|4893|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7402|0.4425|0.817|0.8839|0.8608|0.816||||||||||0.7597|0.5167|0.7793|0.809|0.854|0.8897|0.8123|0.7905|0.8551|0.7923|0.833|0.8897|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA||||||||||rs3131956|4895|1||SNV|HGNC|HGNC:49377||||1||||||||||||||0.7402|0.4425|0.817|0.8839|0.8608|0.816||||||||||0.7597|0.5167|0.7793|0.809|0.854|0.8897|0.8123|0.7905|0.8551|0.7923|0.833|0.8897|gnomADg_EAS|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC00115|ENSG00000225880|Transcript|ENST00000473798|lncRNA||||||||||rs3131956|1464|-1||SNV|HGNC|HGNC:26211|YES|||||||||||||||||0.7402|0.4425|0.817|0.8839|0.8608|0.816||||||||||0.7597|0.5167|0.7793|0.809|0.854|0.8897|0.8123|0.7905|0.8551|0.7923|0.833|0.8897|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA||||||||||rs3131956|4890|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7402|0.4425|0.817|0.8839|0.8608|0.816||||||||||0.7597|0.5167|0.7793|0.809|0.854|0.8897|0.8123|0.7905|0.8551|0.7923|0.833|0.8897|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA||||||||||rs3131956|4903|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7402|0.4425|0.817|0.8839|0.8608|0.816||||||||||0.7597|0.5167|0.7793|0.809|0.854|0.8897|0.8123|0.7905|0.8551|0.7923|0.833|0.8897|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA||||||||||rs3131956|4903|1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.7402|0.4425|0.817|0.8839|0.8608|0.816||||||||||0.7597|0.5167|0.7793|0.809|0.854|0.8897|0.8123|0.7905|0.8551|0.7923|0.833|0.8897|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000610067|lncRNA||||||||||rs3131956|4844|1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.7402|0.4425|0.817|0.8839|0.8608|0.816||||||||||0.7597|0.5167|0.7793|0.809|0.854|0.8897|0.8123|0.7905|0.8551|0.7923|0.833|0.8897|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA||||||||||rs3131956|4888|1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.7402|0.4425|0.817|0.8839|0.8608|0.816||||||||||0.7597|0.5167|0.7793|0.809|0.854|0.8897|0.8123|0.7905|0.8551|0.7923|0.833|0.8897|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA||||||||||rs3131956|4068|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7402|0.4425|0.817|0.8839|0.8608|0.816||||||||||0.7597|0.5167|0.7793|0.809|0.854|0.8897|0.8123|0.7905|0.8551|0.7923|0.833|0.8897|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||||||||||rs3131956|2374|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7402|0.4425|0.817|0.8839|0.8608|0.816||||||||||0.7597|0.5167|0.7793|0.809|0.854|0.8897|0.8123|0.7905|0.8551|0.7923|0.833|0.8897|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+4906T>C|||||||rs3131956||-1||SNV|||YES|||5||||||||||||||0.7402|0.4425|0.817|0.8839|0.8608|0.816||||||||||0.7597|0.5167|0.7793|0.809|0.854|0.8897|0.8123|0.7905|0.8551|0.7923|0.833|0.8897|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+4906T>C|||||||rs3131956||-1||SNV||||||5||||||||||||||0.7402|0.4425|0.817|0.8839|0.8608|0.816||||||||||0.7597|0.5167|0.7793|0.809|0.854|0.8897|0.8123|0.7905|0.8551|0.7923|0.833|0.8897|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA||||||||||rs3131956|4909|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7402|0.4425|0.817|0.8839|0.8608|0.816||||||||||0.7597|0.5167|0.7793|0.809|0.854|0.8897|0.8123|0.7905|0.8551|0.7923|0.833|0.8897|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA||||||||||rs3131956|4871|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7402|0.4425|0.817|0.8839|0.8608|0.816||||||||||0.7597|0.5167|0.7793|0.809|0.854|0.8897|0.8123|0.7905|0.8551|0.7923|0.833|0.8897|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA||||||||||rs3131956|4844|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7402|0.4425|0.817|0.8839|0.8608|0.816||||||||||0.7597|0.5167|0.7793|0.809|0.854|0.8897|0.8123|0.7905|0.8551|0.7923|0.833|0.8897|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA||||||||||rs3131956|4895|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7402|0.4425|0.817|0.8839|0.8608|0.816||||||||||0.7597|0.5167|0.7793|0.809|0.854|0.8897|0.8123|0.7905|0.8551|0.7923|0.833|0.8897|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA||||||||||rs3131956|4871|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7402|0.4425|0.817|0.8839|0.8608|0.816||||||||||0.7597|0.5167|0.7793|0.809|0.854|0.8897|0.8123|0.7905|0.8551|0.7923|0.833|0.8897|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000667414|lncRNA||||||||||rs3131956|4871|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7402|0.4425|0.817|0.8839|0.8608|0.816||||||||||0.7597|0.5167|0.7793|0.809|0.854|0.8897|0.8123|0.7905|0.8551|0.7923|0.833|0.8897|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000669922|lncRNA||||||||||rs3131956|4839|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7402|0.4425|0.817|0.8839|0.8608|0.816||||||||||0.7597|0.5167|0.7793|0.809|0.854|0.8897|0.8123|0.7905|0.8551|0.7923|0.833|0.8897|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA||||||||||rs3131956|4840|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7402|0.4425|0.817|0.8839|0.8608|0.816||||||||||0.7597|0.5167|0.7793|0.809|0.854|0.8897|0.8123|0.7905|0.8551|0.7923|0.833|0.8897|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||||||||||rs3131956|4089|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7402|0.4425|0.817|0.8839|0.8608|0.816||||||||||0.7597|0.5167|0.7793|0.809|0.854|0.8897|0.8123|0.7905|0.8551|0.7923|0.833|0.8897|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA||||||||||rs3131956|4897|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7402|0.4425|0.817|0.8839|0.8608|0.816||||||||||0.7597|0.5167|0.7793|0.809|0.854|0.8897|0.8123|0.7905|0.8551|0.7923|0.833|0.8897|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA||||||||||rs3131956|4879|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7402|0.4425|0.817|0.8839|0.8608|0.816||||||||||0.7597|0.5167|0.7793|0.809|0.854|0.8897|0.8123|0.7905|0.8551|0.7923|0.833|0.8897|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685879|lncRNA||||||||||rs3131956|4888|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7402|0.4425|0.817|0.8839|0.8608|0.816||||||||||0.7597|0.5167|0.7793|0.809|0.854|0.8897|0.8123|0.7905|0.8551|0.7923|0.833|0.8897|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA||||||||||rs3131956|4895|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7402|0.4425|0.817|0.8839|0.8608|0.816||||||||||0.7597|0.5167|0.7793|0.809|0.854|0.8897|0.8123|0.7905|0.8551|0.7923|0.833|0.8897|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA||||||||||rs3131956|4873|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7402|0.4425|0.817|0.8839|0.8608|0.816||||||||||0.7597|0.5167|0.7793|0.809|0.854|0.8897|0.8123|0.7905|0.8551|0.7923|0.833|0.8897|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA||||||||||rs3131956|4844|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7402|0.4425|0.817|0.8839|0.8608|0.816||||||||||0.7597|0.5167|0.7793|0.809|0.854|0.8897|0.8123|0.7905|0.8551|0.7923|0.833|0.8897|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA||||||||||rs3131956|4928|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7402|0.4425|0.817|0.8839|0.8608|0.816||||||||||0.7597|0.5167|0.7793|0.809|0.854|0.8897|0.8123|0.7905|0.8551|0.7923|0.833|0.8897|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA||||||||||rs3131956|4929|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7402|0.4425|0.817|0.8839|0.8608|0.816||||||||||0.7597|0.5167|0.7793|0.809|0.854|0.8897|0.8123|0.7905|0.8551|0.7923|0.833|0.8897|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA||||||||||rs3131956|4903|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7402|0.4425|0.817|0.8839|0.8608|0.816||||||||||0.7597|0.5167|0.7793|0.809|0.854|0.8897|0.8123|0.7905|0.8551|0.7923|0.833|0.8897|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA||||||||||rs3131956|4909|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7402|0.4425|0.817|0.8839|0.8608|0.816||||||||||0.7597|0.5167|0.7793|0.809|0.854|0.8897|0.8123|0.7905|0.8551|0.7923|0.833|0.8897|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA||||||||||rs3131956|4957|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7402|0.4425|0.817|0.8839|0.8608|0.816||||||||||0.7597|0.5167|0.7793|0.809|0.854|0.8897|0.8123|0.7905|0.8551|0.7923|0.833|0.8897|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA||||||||||rs3131956|4938|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7402|0.4425|0.817|0.8839|0.8608|0.816||||||||||0.7597|0.5167|0.7793|0.809|0.854|0.8897|0.8123|0.7905|0.8551|0.7923|0.833|0.8897|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 822944 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=107;POPAF=7.3;TLOD=7.45;SRC=snv;GRP=s001;CSQ=C|downstream_gene_variant|MODIFIER|FAM87B|ENSG00000177757|Transcript|ENST00000326734|lncRNA||||||||||rs3131955|3107|1||SNV|HGNC|HGNC:32236|YES|||2||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA||||||||||rs3131955|4723|1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000441765|lncRNA||||||||||rs3131955|4723|1||SNV|HGNC|HGNC:49377||||2||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA||||||||||rs3131955|4654|1||SNV|HGNC|HGNC:49377|YES|||1||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA||||||||||rs3131955|4713|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA||||||||||rs3131955|4715|1||SNV|HGNC|HGNC:49377||||1||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|downstream_gene_variant|MODIFIER|LINC00115|ENSG00000225880|Transcript|ENST00000473798|lncRNA||||||||||rs3131955|1284|-1||SNV|HGNC|HGNC:26211|YES|||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA||||||||||rs3131955|4710|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA||||||||||rs3131955|4723|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA||||||||||rs3131955|4723|1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000610067|lncRNA||||||||||rs3131955|4664|1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA||||||||||rs3131955|4877|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA||||||||||rs3131955|4708|1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA||||||||||rs3131955|3888|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||||||||||rs3131955|2194|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+4726A>G|||||||rs3131955||-1||SNV|||YES|||5||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+4726A>G|||||||rs3131955||-1||SNV||||||5||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA||||||||||rs3131955|4862|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA||||||||||rs3131955|4729|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA||||||||||rs3131955|4691|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA||||||||||rs3131955|4664|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000660797|lncRNA||||||||||rs3131955|4871|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA||||||||||rs3131955|4715|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA||||||||||rs3131955|4691|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000667414|lncRNA||||||||||rs3131955|4691|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000668541|lncRNA||||||||||rs3131955|4827|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000669922|lncRNA||||||||||rs3131955|4659|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA||||||||||rs3131955|4660|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||||||||||rs3131955|3909|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA||||||||||rs3131955|4717|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA||||||||||rs3131955|4699|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685879|lncRNA||||||||||rs3131955|4708|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA||||||||||rs3131955|4715|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA||||||||||rs3131955|4693|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA||||||||||rs3131955|4664|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA||||||||||rs3131955|4830|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA||||||||||rs3131955|4748|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA||||||||||rs3131955|4749|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA||||||||||rs3131955|4723|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA||||||||||rs3131955|4729|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA||||||||||rs3131955|4777|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA||||||||||rs3131955|4758|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA||||||||||rs3131955|4825|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123|||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA||||||||||rs3131955|4827|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9782|0.9297|0.9899|1|0.993|0.998||||||||||0.9754|0.9243|0.9967|0.9868|0.9942|0.9978|0.9977|0.9803|0.9958|0.9806|0.9964|1|EAS||||36586123||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 823246 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=102;POPAF=7.3;TLOD=7.02;SRC=snv;GRP=s001;CSQ=T|downstream_gene_variant|MODIFIER|FAM87B|ENSG00000177757|Transcript|ENST00000326734|lncRNA||||||||||rs3131954|3409|1||SNV|HGNC|HGNC:32236|YES|||2||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA||||||||||rs3131954|4421|1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000441765|lncRNA||||||||||rs3131954|4421|1||SNV|HGNC|HGNC:49377||||2||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA||||||||||rs3131954|4352|1||SNV|HGNC|HGNC:49377|YES|||1||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA||||||||||rs3131954|4411|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA||||||||||rs3131954|4413|1||SNV|HGNC|HGNC:49377||||1||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC00115|ENSG00000225880|Transcript|ENST00000473798|lncRNA||||||||||rs3131954|982|-1||SNV|HGNC|HGNC:26211|YES|||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA||||||||||rs3131954|4408|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA||||||||||rs3131954|4421|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA||||||||||rs3131954|4421|1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000610067|lncRNA||||||||||rs3131954|4362|1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA||||||||||rs3131954|4575|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA||||||||||rs3131954|4406|1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA||||||||||rs3131954|3586|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||||||||||rs3131954|1892|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+4424G>A|||||||rs3131954||-1||SNV|||YES|||5||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+4424G>A|||||||rs3131954||-1||SNV||||||5||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA||||||||||rs3131954|4560|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA||||||||||rs3131954|4427|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA||||||||||rs3131954|4389|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA||||||||||rs3131954|4362|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000660797|lncRNA||||||||||rs3131954|4569|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA||||||||||rs3131954|4413|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA||||||||||rs3131954|4389|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000667414|lncRNA||||||||||rs3131954|4389|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000668541|lncRNA||||||||||rs3131954|4525|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000669922|lncRNA||||||||||rs3131954|4357|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA||||||||||rs3131954|4358|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||||||||||rs3131954|3607|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA||||||||||rs3131954|4415|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA||||||||||rs3131954|4397|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685879|lncRNA||||||||||rs3131954|4406|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA||||||||||rs3131954|4413|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA||||||||||rs3131954|4391|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA||||||||||rs3131954|4362|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA||||||||||rs3131954|4528|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA||||||||||rs3131954|4446|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA||||||||||rs3131954|4447|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA||||||||||rs3131954|4421|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA||||||||||rs3131954|4427|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA||||||||||rs3131954|4475|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA||||||||||rs3131954|4456|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA||||||||||rs3131954|4523|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA||||||||||rs3131954|4525|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918349|enhancer||||||||||rs3131954||||SNV||||||||||||||||||||0.7514|0.4523|0.8242|0.8859|0.8728|0.8405||||||||||0.7559|0.5166|0.7641|0.8099|0.8334|0.8919|0.8128|0.8041|0.849|0.7816|0.8215|0.8919|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 825767 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=1;GERMQ=52;MBQ=0,34;MFRL=0,0;MMQ=60,45;MPOS=126;POPAF=7.3;TLOD=14.63;SRC=snv;GRP=s001;CSQ=C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA||||||||||rs3115850|1900|1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000441765|lncRNA||||||||||rs3115850|1900|1||SNV|HGNC|HGNC:49377||||2||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA||||||||||rs3115850|1831|1||SNV|HGNC|HGNC:49377|YES|||1||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA||||||||||rs3115850|1890|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA||||||||||rs3115850|1892|1||SNV|HGNC|HGNC:49377||||1||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC00115|ENSG00000225880|Transcript|ENST00000473798|lncRNA|1/1||ENST00000473798.2:n.1773A>G||1773|||||rs3115850||-1||SNV|HGNC|HGNC:26211|YES|||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA||||||||||rs3115850|1887|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA||||||||||rs3115850|1900|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA||||||||||rs3115850|1900|1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000610067|lncRNA||||||||||rs3115850|1841|1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA||||||||||rs3115850|2054|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA||||||||||rs3115850|1885|1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA||||||||||rs3115850|1065|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||1/2|ENST00000624927.3:n.415+215T>C|||||||rs3115850||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+1903A>G|||||||rs3115850||-1||SNV|||YES|||5||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+1903A>G|||||||rs3115850||-1||SNV||||||5||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA||||||||||rs3115850|2039|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA||||||||||rs3115850|1906|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA||||||||||rs3115850|1868|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA||||||||||rs3115850|1841|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000660797|lncRNA||||||||||rs3115850|2048|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA||||||||||rs3115850|1892|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA||||||||||rs3115850|1868|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000667414|lncRNA||||||||||rs3115850|1868|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000668541|lncRNA||||||||||rs3115850|2004|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000669922|lncRNA||||||||||rs3115850|1836|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA||||||||||rs3115850|1837|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||||||||||rs3115850|1086|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA||||||||||rs3115850|1894|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA||||||||||rs3115850|1876|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685879|lncRNA||||||||||rs3115850|1885|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA||||||||||rs3115850|1892|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA||||||||||rs3115850|1870|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA||||||||||rs3115850|1841|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA||||||||||rs3115850|2007|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA||||||||||rs3115850|1925|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA||||||||||rs3115850|1926|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA||||||||||rs3115850|1900|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA||||||||||rs3115850|1906|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA||||||||||rs3115850|1954|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA||||||||||rs3115850|1935|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA||||||||||rs3115850|2002|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA||||||||||rs3115850|2004|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000086|promoter||||||||||rs3115850||||SNV||||||||||||||||||||0.7334|0.4448|0.8069|0.8839|0.839|0.8078||||||||||0.7238|0.477|0.7368|0.7899|0.7839|0.8878|0.7963|0.7563|0.8259|0.7536|0.7931|0.8878|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 826352 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,31;MFRL=0,0;MMQ=60,44;MPOS=11;POPAF=7.3;TLOD=3.28;SRC=snv;GRP=s001;CSQ=T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA||||||||||rs2286139|1315|1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000441765|lncRNA||||||||||rs2286139|1315|1||SNV|HGNC|HGNC:49377||||2||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA||||||||||rs2286139|1246|1||SNV|HGNC|HGNC:49377|YES|||1||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA||||||||||rs2286139|1305|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA||||||||||rs2286139|1307|1||SNV|HGNC|HGNC:49377||||1||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC00115|ENSG00000225880|Transcript|ENST00000473798|lncRNA|1/1||ENST00000473798.2:n.1188G>A||1188|||||rs2286139||-1||SNV|HGNC|HGNC:26211|YES|||||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA||||||||||rs2286139|1302|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA||||||||||rs2286139|1315|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA||||||||||rs2286139|1315|1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000610067|lncRNA||||||||||rs2286139|1256|1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA||||||||||rs2286139|1469|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA||||||||||rs2286139|1300|1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA||||||||||rs2286139|480|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||1/2|ENST00000624927.3:n.415+800C>T|||||||rs2286139||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000634337|lncRNA||1/4|ENST00000634337.2:n.127+1318G>A|||||||rs2286139||-1||SNV|||YES|||5||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000293331|Transcript|ENST00000635509|lncRNA||1/3|ENST00000635509.2:n.100+1318G>A|||||||rs2286139||-1||SNV||||||5||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA||||||||||rs2286139|1454|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA||||||||||rs2286139|1321|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA||||||||||rs2286139|1283|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA||||||||||rs2286139|1256|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000660797|lncRNA||||||||||rs2286139|1463|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA||||||||||rs2286139|1307|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA||||||||||rs2286139|1283|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000667414|lncRNA||||||||||rs2286139|1283|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000668541|lncRNA||||||||||rs2286139|1419|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000669922|lncRNA||||||||||rs2286139|1251|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA||||||||||rs2286139|1252|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||||||||||rs2286139|501|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA||||||||||rs2286139|1309|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA||||||||||rs2286139|1291|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685879|lncRNA||||||||||rs2286139|1300|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA||||||||||rs2286139|1307|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA||||||||||rs2286139|1285|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA||||||||||rs2286139|1256|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA||||||||||rs2286139|1422|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA||||||||||rs2286139|1340|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA||||||||||rs2286139|1341|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA||||||||||rs2286139|1315|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA||||||||||rs2286139|1321|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA||||||||||rs2286139|1369|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA||||||||||rs2286139|1350|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA||||||||||rs2286139|1417|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA||||||||||rs2286139|1419|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000086|promoter||||||||||rs2286139||||SNV||||||||||||||||||||0.6258|0.1702|0.7392|0.7292|0.8698|0.8037||||||||||0.6518|0.2397|0.7598|0.7047|0.836|0.7207|0.7751|0.7743|0.8529|0.6956|0.7741|0.8698|EUR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 837375 . A C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,38;MPOS=93;POPAF=7.3;TLOD=7.25;SRC=snv;GRP=s001;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000415295|lncRNA||1/1|ENST00000415295.1:n.74-3825A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||1||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA||2/2|ENST00000416570.6:n.211+8271A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000441765|lncRNA||1/1|ENST00000441765.6:n.110-3825A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||2||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA||2/4|ENST00000445118.7:n.280+8271A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377|YES|||1||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA||2/4|ENST00000448975.6:n.221+8271A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA||2/4|ENST00000449005.7:n.219+8271A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||1||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA||2/7|ENST00000608189.6:n.224+8271A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA||2/7|ENST00000609009.6:n.211+8271A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA||2/5|ENST00000609139.7:n.212-3825A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000610067|lncRNA||2/3|ENST00000610067.7:n.270+8271A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA||2/2|ENST00000622921.1:n.135+8271A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA||2/3|ENST00000623070.5:n.226+8271A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA||2/4|ENST00000623808.4:n.194+8271A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||1/2|ENST00000624927.3:n.416-10279A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA||2/5|ENST00000657175.1:n.146+8271A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA||2/5|ENST00000657837.1:n.205+8271A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA||2/4|ENST00000658846.2:n.243+8271A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA||2/6|ENST00000659124.2:n.270+8271A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000660797|lncRNA||2/2|ENST00000660797.1:n.416-3825A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA||2/6|ENST00000661237.3:n.220-3825A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA||2/7|ENST00000666741.2:n.243+8271A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000667414|lncRNA||2/2|ENST00000667414.1:n.243+8271A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000668541|lncRNA||2/2|ENST00000668541.1:n.186-3825A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000669922|lncRNA||2/2|ENST00000669922.1:n.276-3825A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA||2/7|ENST00000670780.1:n.275-3825A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670824|lncRNA||1/1|ENST00000670824.1:n.101-3825A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||1/3|ENST00000685334.1:n.71+10452A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA||1/3|ENST00000685566.1:n.115+9600A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA||2/5|ENST00000685764.2:n.235+8271A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA||2/7|ENST00000686238.1:n.220-3825A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA||2/6|ENST00000688008.2:n.241+8271A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA||2/5|ENST00000688309.1:n.270+8271A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688420|lncRNA||1/4|ENST00000688420.1:n.61+5698A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA||2/6|ENST00000691234.2:n.178+8271A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA||2/6|ENST00000691316.1:n.186+8271A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA||2/5|ENST00000692194.1:n.185+8271A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA||1/4|ENST00000701598.1:n.109+9600A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA||2/6|ENST00000701768.1:n.205+8271A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA||2/5|ENST00000702098.1:n.157+8271A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA||2/4|ENST00000702273.1:n.176+8271A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA||2/4|ENST00000702557.1:n.183+8271A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA||2/5|ENST00000702847.1:n.185+8271A>C|||||||rs2905039||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7552|0.4637|0.8256|0.9008|0.8718|0.8292||||||||||0.7472|0.4821|0.7686|0.8071|0.8521|0.9039|0.8077|0.8038|0.8585|0.7826|0.8227|0.9039|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 838563 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,29;MFRL=0,0;MMQ=60,50;MPOS=78;POPAF=7.3;TLOD=3.08;SRC=snv;GRP=s001;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000415295|lncRNA||1/1|ENST00000415295.1:n.74-2637A>G|||||||||1||SNV|HGNC|HGNC:49377||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA||2/2|ENST00000416570.6:n.211+9459A>G|||||||||1||SNV|HGNC|HGNC:49377||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000441765|lncRNA||1/1|ENST00000441765.6:n.110-2637A>G|||||||||1||SNV|HGNC|HGNC:49377||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA||2/4|ENST00000445118.7:n.280+9459A>G|||||||||1||SNV|HGNC|HGNC:49377|YES|||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA||2/4|ENST00000448975.6:n.222-9091A>G|||||||||1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA||2/4|ENST00000449005.7:n.220-9091A>G|||||||||1||SNV|HGNC|HGNC:49377||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA||2/7|ENST00000608189.6:n.225-9091A>G|||||||||1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA||2/7|ENST00000609009.6:n.212-9091A>G|||||||||1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA||2/5|ENST00000609139.7:n.212-2637A>G|||||||||1||SNV|HGNC|HGNC:49377||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000610067|lncRNA||2/3|ENST00000610067.7:n.271-9091A>G|||||||||1||SNV|HGNC|HGNC:49377||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA||2/2|ENST00000622921.1:n.135+9459A>G|||||||||1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA||2/3|ENST00000623070.5:n.226+9459A>G|||||||||1||SNV|HGNC|HGNC:49377||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA||2/4|ENST00000623808.4:n.194+9459A>G|||||||||1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||1/2|ENST00000624927.3:n.416-9091A>G|||||||||1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA||2/5|ENST00000657175.1:n.147-9091A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA||2/5|ENST00000657837.1:n.205+9459A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA||2/4|ENST00000658846.2:n.244-9091A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA||2/6|ENST00000659124.2:n.271-9091A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000660797|lncRNA||2/2|ENST00000660797.1:n.416-2637A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA||2/6|ENST00000661237.3:n.220-2637A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA||2/7|ENST00000666741.2:n.244-9091A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000667414|lncRNA||2/2|ENST00000667414.1:n.244-9091A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000668541|lncRNA||2/2|ENST00000668541.1:n.186-2637A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000669922|lncRNA||2/2|ENST00000669922.1:n.276-2637A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA||2/7|ENST00000670780.1:n.275-2637A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670824|lncRNA||1/1|ENST00000670824.1:n.101-2637A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||1/3|ENST00000685334.1:n.71+11640A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA||1/3|ENST00000685566.1:n.115+10788A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA||2/5|ENST00000685764.2:n.235+9459A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA||2/7|ENST00000686238.1:n.220-2637A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA||2/6|ENST00000688008.2:n.242-9091A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA||2/5|ENST00000688309.1:n.270+9459A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688420|lncRNA||1/4|ENST00000688420.1:n.61+6886A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA||2/6|ENST00000691234.2:n.179-9091A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA||2/6|ENST00000691316.1:n.187-9091A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA||2/5|ENST00000692194.1:n.186-9091A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA||1/4|ENST00000701598.1:n.110-9091A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA||2/6|ENST00000701768.1:n.206-9091A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA||2/5|ENST00000702098.1:n.158-9091A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA||2/4|ENST00000702273.1:n.176+9459A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA||2/4|ENST00000702557.1:n.183+9459A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA||2/5|ENST00000702847.1:n.186-9091A>G|||||||||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,0:0,1:0,0,0,1 -chr1 839356 . A C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,31;MFRL=0,0;MMQ=60,37;MPOS=121;POPAF=7.3;TLOD=6.68;SRC=snv;GRP=s001;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000415295|lncRNA||1/1|ENST00000415295.1:n.74-1844A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||1||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA||2/2|ENST00000416570.6:n.211+10252A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000441765|lncRNA||1/1|ENST00000441765.6:n.110-1844A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||2||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA||2/4|ENST00000445118.7:n.280+10252A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377|YES|||1||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA||2/4|ENST00000448975.6:n.222-8298A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA||2/4|ENST00000449005.7:n.220-8298A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||1||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA||2/7|ENST00000608189.6:n.225-8298A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA||2/7|ENST00000609009.6:n.212-8298A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA||2/5|ENST00000609139.7:n.212-1844A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000610067|lncRNA||2/3|ENST00000610067.7:n.271-8298A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA||2/2|ENST00000622921.1:n.135+10252A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA||2/3|ENST00000623070.5:n.226+10252A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA||2/4|ENST00000623808.4:n.194+10252A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||1/2|ENST00000624927.3:n.416-8298A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA||2/5|ENST00000657175.1:n.147-8298A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA||2/5|ENST00000657837.1:n.205+10252A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA||2/4|ENST00000658846.2:n.244-8298A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA||2/6|ENST00000659124.2:n.271-8298A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000660797|lncRNA||2/2|ENST00000660797.1:n.416-1844A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA||2/6|ENST00000661237.3:n.220-1844A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA||2/7|ENST00000666741.2:n.244-8298A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000667414|lncRNA||2/2|ENST00000667414.1:n.244-8298A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000668541|lncRNA||2/2|ENST00000668541.1:n.186-1844A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000669922|lncRNA||2/2|ENST00000669922.1:n.276-1844A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA||2/7|ENST00000670780.1:n.275-1844A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670824|lncRNA||1/1|ENST00000670824.1:n.101-1844A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||1/3|ENST00000685334.1:n.71+12433A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA||1/3|ENST00000685566.1:n.115+11581A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA||2/5|ENST00000685764.2:n.235+10252A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA||2/7|ENST00000686238.1:n.220-1844A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA||2/6|ENST00000688008.2:n.242-8298A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA||2/5|ENST00000688309.1:n.270+10252A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688420|lncRNA||1/4|ENST00000688420.1:n.61+7679A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA||2/6|ENST00000691234.2:n.179-8298A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA||2/6|ENST00000691316.1:n.187-8298A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA||2/5|ENST00000692194.1:n.186-8298A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA||1/4|ENST00000701598.1:n.110-8298A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA||2/6|ENST00000701768.1:n.206-8298A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA||2/5|ENST00000702098.1:n.158-8298A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA||2/4|ENST00000702273.1:n.176+10252A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA||2/4|ENST00000702557.1:n.183+10252A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA||2/5|ENST00000702847.1:n.186-8298A>C|||||||rs28830877||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9683|0.8896|0.9885|1|0.995|1||||||||||0.9196|0.854|0.9351|0.9097|0.9515|0.857|0.9525|0.9291|0.9553|0.9273|0.9582|1|EAS&SAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.75:2:0,2:0,0:0,2:0,0,0,2 -chr1 841462 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=19%2C19|1%2C1;DP=40;ECNT=1;GERMQ=93;MBQ=33,31;MFRL=0,0;MMQ=54,35;MPOS=38;POPAF=7.3;TLOD=4.35;SRC=snv;GRP=s001;CSQ=G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000415295|lncRNA|2/2||ENST00000415295.1:n.336A>G||336|||||||1||SNV|HGNC|HGNC:49377||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA||2/2|ENST00000416570.6:n.212-10465A>G|||||||||1||SNV|HGNC|HGNC:49377||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000441765|lncRNA|2/2||ENST00000441765.6:n.372A>G||372|||||||1||SNV|HGNC|HGNC:49377||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA||2/4|ENST00000445118.7:n.281-10465A>G|||||||||1||SNV|HGNC|HGNC:49377|YES|||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA||2/4|ENST00000448975.6:n.222-6192A>G|||||||||1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA||2/4|ENST00000449005.7:n.220-6192A>G|||||||||1||SNV|HGNC|HGNC:49377||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA||2/7|ENST00000608189.6:n.225-6192A>G|||||||||1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA||2/7|ENST00000609009.6:n.212-6192A>G|||||||||1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA||3/5|ENST00000609139.7:n.385+89A>G|||||||||1||SNV|HGNC|HGNC:49377||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000610067|lncRNA||2/3|ENST00000610067.7:n.271-6192A>G|||||||||1||SNV|HGNC|HGNC:49377||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA||2/2|ENST00000622921.1:n.136-10465A>G|||||||||1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA||2/3|ENST00000623070.5:n.227-10465A>G|||||||||1||SNV|HGNC|HGNC:49377||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA||2/4|ENST00000623808.4:n.195-10465A>G|||||||||1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||1/2|ENST00000624927.3:n.416-6192A>G|||||||||1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA||2/5|ENST00000657175.1:n.147-6192A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA||2/5|ENST00000657837.1:n.206-10465A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA||2/4|ENST00000658846.2:n.244-6192A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA||2/6|ENST00000659124.2:n.271-6192A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000660797|lncRNA|3/3||ENST00000660797.1:n.678A>G||678|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA||3/6|ENST00000661237.3:n.393+89A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA||2/7|ENST00000666741.2:n.244-6192A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000667414|lncRNA||2/2|ENST00000667414.1:n.244-6192A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000668541|lncRNA|3/3||ENST00000668541.1:n.448A>G||448|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000669922|lncRNA|3/3||ENST00000669922.1:n.538A>G||538|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA|3/8||ENST00000670780.1:n.537A>G||537|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670824|lncRNA|2/2||ENST00000670824.1:n.363A>G||363|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||1/3|ENST00000685334.1:n.72-10465A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA||1/3|ENST00000685566.1:n.116-10465A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA||2/5|ENST00000685764.2:n.236-10465A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA||3/7|ENST00000686238.1:n.393+89A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA||2/6|ENST00000688008.2:n.242-6192A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA||2/5|ENST00000688309.1:n.271-10465A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688420|lncRNA||1/4|ENST00000688420.1:n.62-6192A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA||2/6|ENST00000691234.2:n.179-6192A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA||2/6|ENST00000691316.1:n.187-6192A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA||2/5|ENST00000692194.1:n.186-6192A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA||1/4|ENST00000701598.1:n.110-6192A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA||2/6|ENST00000701768.1:n.206-6192A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA||2/5|ENST00000702098.1:n.158-6192A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA||2/4|ENST00000702273.1:n.177-10465A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA||2/4|ENST00000702557.1:n.184-10465A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA||2/5|ENST00000702847.1:n.186-6192A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918351|enhancer||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:38,2:0.083:40:2,0:19,1:21,1:19,19,1,1 -chr1 841742 . A T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|10%2C12;DP=26;ECNT=1;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,31;MPOS=70;POPAF=7.3;TLOD=72.93;SRC=snv;GRP=s001;CSQ=T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000415295|lncRNA|2/2||ENST00000415295.1:n.616A>T||616|||||rs2980319||1||SNV|HGNC|HGNC:49377||||1||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA||2/2|ENST00000416570.6:n.212-10185A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000441765|lncRNA|2/2||ENST00000441765.6:n.652A>T||652|||||rs2980319||1||SNV|HGNC|HGNC:49377||||2||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA||2/4|ENST00000445118.7:n.281-10185A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377|YES|||1||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA||2/4|ENST00000448975.6:n.222-5912A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA||2/4|ENST00000449005.7:n.220-5912A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||1||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA||2/7|ENST00000608189.6:n.225-5912A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA||2/7|ENST00000609009.6:n.212-5912A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA||3/5|ENST00000609139.7:n.385+369A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000610067|lncRNA||2/3|ENST00000610067.7:n.271-5912A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA||2/2|ENST00000622921.1:n.136-10185A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA||2/3|ENST00000623070.5:n.227-10185A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA||2/4|ENST00000623808.4:n.195-10185A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||1/2|ENST00000624927.3:n.416-5912A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA||2/5|ENST00000657175.1:n.147-5912A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA||2/5|ENST00000657837.1:n.206-10185A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA||2/4|ENST00000658846.2:n.244-5912A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA||2/6|ENST00000659124.2:n.271-5912A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000660797|lncRNA|3/3||ENST00000660797.1:n.958A>T||958|||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA||3/6|ENST00000661237.3:n.393+369A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA||2/7|ENST00000666741.2:n.244-5912A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000667414|lncRNA||2/2|ENST00000667414.1:n.244-5912A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000668541|lncRNA|3/3||ENST00000668541.1:n.728A>T||728|||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000669922|lncRNA|3/3||ENST00000669922.1:n.818A>T||818|||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA|3/8||ENST00000670780.1:n.817A>T||817|||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670824|lncRNA|2/2||ENST00000670824.1:n.643A>T||643|||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||1/3|ENST00000685334.1:n.72-10185A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA||1/3|ENST00000685566.1:n.116-10185A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA||2/5|ENST00000685764.2:n.236-10185A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA||3/7|ENST00000686238.1:n.393+369A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA||2/6|ENST00000688008.2:n.242-5912A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA||2/5|ENST00000688309.1:n.271-10185A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688420|lncRNA||1/4|ENST00000688420.1:n.62-5912A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA||2/6|ENST00000691234.2:n.179-5912A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA||2/6|ENST00000691316.1:n.187-5912A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA||2/5|ENST00000692194.1:n.186-5912A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA||1/4|ENST00000701598.1:n.110-5912A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA||2/6|ENST00000701768.1:n.206-5912A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA||2/5|ENST00000702098.1:n.158-5912A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA||2/4|ENST00000702273.1:n.177-10185A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA||2/4|ENST00000702557.1:n.184-10185A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA||2/5|ENST00000702847.1:n.186-5912A>T|||||||rs2980319||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918351|enhancer||||||||||rs2980319||||SNV||||||||||||||||||||0.7472|0.4365|0.8343|0.8879|0.8767|0.8272||||||||||0.7438|0.4734|0.7715|0.8091|0.8469|0.8943|0.8085|0.8038|0.8593|0.7813|0.8209|0.8943|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,22:0.93:22:0,0:0,10:0,12:0,0,10,12 -chr1 842714 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=18%2C13|1%2C1;DP=35;ECNT=1;GERMQ=93;MBQ=33,30;MFRL=0,0;MMQ=60,60;MPOS=51;POPAF=7.3;TLOD=4.29;SRC=snv;GRP=s001;CSQ=T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000415295|lncRNA|||||||||||694|1||SNV|HGNC|HGNC:49377||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA||2/2|ENST00000416570.6:n.212-9213C>T|||||||||1||SNV|HGNC|HGNC:49377||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000441765|lncRNA|||||||||||713|1||SNV|HGNC|HGNC:49377||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA||2/4|ENST00000445118.7:n.281-9213C>T|||||||||1||SNV|HGNC|HGNC:49377|YES|||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA||2/4|ENST00000448975.6:n.222-4940C>T|||||||||1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA||2/4|ENST00000449005.7:n.220-4940C>T|||||||||1||SNV|HGNC|HGNC:49377||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA||2/7|ENST00000608189.6:n.225-4940C>T|||||||||1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA||2/7|ENST00000609009.6:n.212-4940C>T|||||||||1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA||3/5|ENST00000609139.7:n.385+1341C>T|||||||||1||SNV|HGNC|HGNC:49377||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000610067|lncRNA||2/3|ENST00000610067.7:n.271-4940C>T|||||||||1||SNV|HGNC|HGNC:49377||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA||2/2|ENST00000622921.1:n.136-9213C>T|||||||||1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA||2/3|ENST00000623070.5:n.227-9213C>T|||||||||1||SNV|HGNC|HGNC:49377||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA||2/4|ENST00000623808.4:n.195-9213C>T|||||||||1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||1/2|ENST00000624927.3:n.416-4940C>T|||||||||1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA||2/5|ENST00000657175.1:n.147-4940C>T|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA||2/5|ENST00000657837.1:n.206-9213C>T|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA||2/4|ENST00000658846.2:n.244-4940C>T|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA||2/6|ENST00000659124.2:n.271-4940C>T|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000660797|lncRNA|||||||||||715|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA||3/6|ENST00000661237.3:n.393+1341C>T|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA||2/7|ENST00000666741.2:n.244-4940C>T|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000667414|lncRNA||2/2|ENST00000667414.1:n.244-4940C>T|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000668541|lncRNA|||||||||||713|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000669922|lncRNA|3/3||ENST00000669922.1:n.1790C>T||1790|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA|3/8||ENST00000670780.1:n.1789C>T||1789|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670824|lncRNA|2/2||ENST00000670824.1:n.1615C>T||1615|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||1/3|ENST00000685334.1:n.72-9213C>T|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA||1/3|ENST00000685566.1:n.116-9213C>T|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA||2/5|ENST00000685764.2:n.236-9213C>T|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA||3/7|ENST00000686238.1:n.393+1341C>T|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA||2/6|ENST00000688008.2:n.242-4940C>T|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA||2/5|ENST00000688309.1:n.271-9213C>T|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688420|lncRNA||1/4|ENST00000688420.1:n.62-4940C>T|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA||2/6|ENST00000691234.2:n.179-4940C>T|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA||2/6|ENST00000691316.1:n.187-4940C>T|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA||2/5|ENST00000692194.1:n.186-4940C>T|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA||1/4|ENST00000701598.1:n.110-4940C>T|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA||2/6|ENST00000701768.1:n.206-4940C>T|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA||2/5|ENST00000702098.1:n.158-4940C>T|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA||2/4|ENST00000702273.1:n.177-9213C>T|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA||2/4|ENST00000702557.1:n.184-9213C>T|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA||2/5|ENST00000702847.1:n.186-4940C>T|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918351|enhancer||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:31,2:0.09:33:1,0:18,1:19,1:18,13,1,1 -chr1 843189 . A G . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|11%2C13;DP=25;ECNT=1;GERMQ=93;MBQ=0,32;MFRL=0,0;MMQ=60,25;MPOS=95;POPAF=7.3;TLOD=73.31;SRC=snv;GRP=s001;CSQ=G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000415295|lncRNA||||||||||rs2977615|1169|1||SNV|HGNC|HGNC:49377||||1||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA||2/2|ENST00000416570.6:n.212-8738A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000441765|lncRNA||||||||||rs2977615|1188|1||SNV|HGNC|HGNC:49377||||2||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA||2/4|ENST00000445118.7:n.281-8738A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377|YES|||1||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA||2/4|ENST00000448975.6:n.222-4465A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA||2/4|ENST00000449005.7:n.220-4465A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||1||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA||2/7|ENST00000608189.6:n.225-4465A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA||2/7|ENST00000609009.6:n.212-4465A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA||3/5|ENST00000609139.7:n.385+1816A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000610067|lncRNA||2/3|ENST00000610067.7:n.271-4465A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA||2/2|ENST00000622921.1:n.136-8738A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA||2/3|ENST00000623070.5:n.227-8738A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA||2/4|ENST00000623808.4:n.195-8738A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||1/2|ENST00000624927.3:n.416-4465A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA||2/5|ENST00000657175.1:n.147-4465A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA||2/5|ENST00000657837.1:n.206-8738A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA||2/4|ENST00000658846.2:n.244-4465A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA||2/6|ENST00000659124.2:n.271-4465A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000660797|lncRNA||||||||||rs2977615|1190|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA||3/6|ENST00000661237.3:n.393+1816A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA||2/7|ENST00000666741.2:n.244-4465A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000667414|lncRNA||2/2|ENST00000667414.1:n.244-4465A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000668541|lncRNA||||||||||rs2977615|1188|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000669922|lncRNA|3/3||ENST00000669922.1:n.2265A>G||2265|||||rs2977615||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA|3/8||ENST00000670780.1:n.2264A>G||2264|||||rs2977615||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670824|lncRNA|2/2||ENST00000670824.1:n.2090A>G||2090|||||rs2977615||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||1/3|ENST00000685334.1:n.72-8738A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA||1/3|ENST00000685566.1:n.116-8738A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA||2/5|ENST00000685764.2:n.236-8738A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA||3/7|ENST00000686238.1:n.393+1816A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA||2/6|ENST00000688008.2:n.242-4465A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA||2/5|ENST00000688309.1:n.271-8738A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688420|lncRNA||1/4|ENST00000688420.1:n.62-4465A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA||2/6|ENST00000691234.2:n.179-4465A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA||2/6|ENST00000691316.1:n.187-4465A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA||2/5|ENST00000692194.1:n.186-4465A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA||1/4|ENST00000701598.1:n.110-4465A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA||2/6|ENST00000701768.1:n.206-4465A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA||2/5|ENST00000702098.1:n.158-4465A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA||2/4|ENST00000702273.1:n.177-8738A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA||2/4|ENST00000702557.1:n.184-8738A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA||2/5|ENST00000702847.1:n.186-4465A>G|||||||rs2977615||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918351|enhancer||||||||||rs2977615||||SNV||||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9265|1|0.9891|0.9977|1|1|0.9842|0.9983|0.9822|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,24:0.941:24:0,4:0,11:0,15:0,0,11,13 -chr1 844097 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=12%2C9|1%2C1;DP=26;ECNT=1;GERMQ=74;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=47;POPAF=7.3;TLOD=5.37;SRC=snv;GRP=s001;CSQ=A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000415295|lncRNA|||||||||||2077|1||SNV|HGNC|HGNC:49377||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA||2/2|ENST00000416570.6:n.212-7830C>A|||||||||1||SNV|HGNC|HGNC:49377||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000441765|lncRNA|||||||||||2096|1||SNV|HGNC|HGNC:49377||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA||2/4|ENST00000445118.7:n.281-7830C>A|||||||||1||SNV|HGNC|HGNC:49377|YES|||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA||2/4|ENST00000448975.6:n.222-3557C>A|||||||||1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA||2/4|ENST00000449005.7:n.220-3557C>A|||||||||1||SNV|HGNC|HGNC:49377||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA||2/7|ENST00000608189.6:n.225-3557C>A|||||||||1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA||2/7|ENST00000609009.6:n.212-3557C>A|||||||||1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA||3/5|ENST00000609139.7:n.385+2724C>A|||||||||1||SNV|HGNC|HGNC:49377||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000610067|lncRNA||2/3|ENST00000610067.7:n.271-3557C>A|||||||||1||SNV|HGNC|HGNC:49377||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA||2/2|ENST00000622921.1:n.136-7830C>A|||||||||1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA||2/3|ENST00000623070.5:n.227-7830C>A|||||||||1||SNV|HGNC|HGNC:49377||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA||2/4|ENST00000623808.4:n.195-7830C>A|||||||||1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||1/2|ENST00000624927.3:n.416-3557C>A|||||||||1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA||2/5|ENST00000657175.1:n.147-3557C>A|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA||2/5|ENST00000657837.1:n.206-7830C>A|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA||2/4|ENST00000658846.2:n.244-3557C>A|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA||2/6|ENST00000659124.2:n.271-3557C>A|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000660797|lncRNA|||||||||||2098|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA||3/6|ENST00000661237.3:n.393+2724C>A|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA||2/7|ENST00000666741.2:n.244-3557C>A|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000667414|lncRNA||2/2|ENST00000667414.1:n.244-3557C>A|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000668541|lncRNA|||||||||||2096|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000669922|lncRNA|3/3||ENST00000669922.1:n.3173C>A||3173|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA|3/8||ENST00000670780.1:n.3172C>A||3172|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670824|lncRNA|||||||||||503|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||1/3|ENST00000685334.1:n.72-7830C>A|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA||1/3|ENST00000685566.1:n.116-7830C>A|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA||2/5|ENST00000685764.2:n.236-7830C>A|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA||3/7|ENST00000686238.1:n.393+2724C>A|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA||2/6|ENST00000688008.2:n.242-3557C>A|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA||2/5|ENST00000688309.1:n.271-7830C>A|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688420|lncRNA||1/4|ENST00000688420.1:n.62-3557C>A|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA||2/6|ENST00000691234.2:n.179-3557C>A|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA||2/6|ENST00000691316.1:n.187-3557C>A|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA||2/5|ENST00000692194.1:n.186-3557C>A|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA||1/4|ENST00000701598.1:n.110-3557C>A|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA||2/6|ENST00000701768.1:n.206-3557C>A|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA||2/5|ENST00000702098.1:n.158-3557C>A|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA||2/4|ENST00000702273.1:n.177-7830C>A|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA||2/4|ENST00000702557.1:n.184-7830C>A|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA||2/5|ENST00000702847.1:n.186-3557C>A|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918351|enhancer||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:21,2:0.13:23:0,0:12,1:12,1:12,9,1,1 -chr1 844647 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|5%2C3;DP=8;ECNT=1;GERMQ=63;MBQ=0,33;MFRL=0,0;MMQ=60,48;MPOS=31;POPAF=7.3;TLOD=29.04;SRC=snv;GRP=s001;CSQ=T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000415295|lncRNA||||||||||rs2977613|2627|1||SNV|HGNC|HGNC:49377||||1||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA||2/2|ENST00000416570.6:n.212-7280G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000441765|lncRNA||||||||||rs2977613|2646|1||SNV|HGNC|HGNC:49377||||2||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA||2/4|ENST00000445118.7:n.281-7280G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377|YES|||1||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA||2/4|ENST00000448975.6:n.222-3007G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA||2/4|ENST00000449005.7:n.220-3007G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||1||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA||2/7|ENST00000608189.6:n.225-3007G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA||2/7|ENST00000609009.6:n.212-3007G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA||3/5|ENST00000609139.7:n.385+3274G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000610067|lncRNA||2/3|ENST00000610067.7:n.271-3007G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA||2/2|ENST00000622921.1:n.136-7280G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA||2/3|ENST00000623070.5:n.227-7280G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA||2/4|ENST00000623808.4:n.195-7280G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||1/2|ENST00000624927.3:n.416-3007G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA||2/5|ENST00000657175.1:n.147-3007G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA||2/5|ENST00000657837.1:n.206-7280G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA||2/4|ENST00000658846.2:n.244-3007G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA||2/6|ENST00000659124.2:n.271-3007G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000660797|lncRNA||||||||||rs2977613|2648|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA||3/6|ENST00000661237.3:n.394-3007G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA||2/7|ENST00000666741.2:n.244-3007G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000667414|lncRNA||2/2|ENST00000667414.1:n.244-3007G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000668541|lncRNA||||||||||rs2977613|2646|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000669922|lncRNA|3/3||ENST00000669922.1:n.3723G>T||3723|||||rs2977613||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA||3/7|ENST00000670780.1:n.3573+149G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670824|lncRNA||||||||||rs2977613|1053|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||1/3|ENST00000685334.1:n.72-7280G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA||1/3|ENST00000685566.1:n.116-7280G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA||2/5|ENST00000685764.2:n.236-7280G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA||3/7|ENST00000686238.1:n.394-3007G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA||2/6|ENST00000688008.2:n.242-3007G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA||2/5|ENST00000688309.1:n.271-7280G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688420|lncRNA||1/4|ENST00000688420.1:n.62-3007G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA||2/6|ENST00000691234.2:n.179-3007G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA||2/6|ENST00000691316.1:n.187-3007G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA||2/5|ENST00000692194.1:n.186-3007G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA||1/4|ENST00000701598.1:n.110-3007G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA||2/6|ENST00000701768.1:n.206-3007G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA||2/5|ENST00000702098.1:n.158-3007G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA||2/4|ENST00000702273.1:n.177-7280G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA||2/4|ENST00000702557.1:n.184-7280G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA||2/5|ENST00000702847.1:n.186-3007G>T|||||||rs2977613||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918351|enhancer||||||||||rs2977613||||SNV||||||||||||||||||||0.9796|0.9312|0.9914|1|0.995|1||||||||||0.9778|0.9264|1|0.9892|0.9977|1|1|0.9842|0.9983|0.9823|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.857:8:0,0:0,5:0,5:0,0,5,3 -chr1 845405 . T A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C4;DP=8;ECNT=1;GERMQ=63;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=109;POPAF=7.3;TLOD=28.22;SRC=snv;GRP=s001;CSQ=A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000415295|lncRNA||||||||||rs2977612|3385|1||SNV|HGNC|HGNC:49377||||1||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA||2/2|ENST00000416570.6:n.212-6522T>A|||||||rs2977612||1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000441765|lncRNA||||||||||rs2977612|3404|1||SNV|HGNC|HGNC:49377||||2||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA||2/4|ENST00000445118.7:n.281-6522T>A|||||||rs2977612||1||SNV|HGNC|HGNC:49377|YES|||1||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA||2/4|ENST00000448975.6:n.222-2249T>A|||||||rs2977612||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA||2/4|ENST00000449005.7:n.220-2249T>A|||||||rs2977612||1||SNV|HGNC|HGNC:49377||||1||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA||2/7|ENST00000608189.6:n.225-2249T>A|||||||rs2977612||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA||2/7|ENST00000609009.6:n.212-2249T>A|||||||rs2977612||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA||3/5|ENST00000609139.7:n.385+4032T>A|||||||rs2977612||1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000610067|lncRNA||2/3|ENST00000610067.7:n.271-2249T>A|||||||rs2977612||1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA||2/2|ENST00000622921.1:n.136-6522T>A|||||||rs2977612||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA||2/3|ENST00000623070.5:n.227-6522T>A|||||||rs2977612||1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA||2/4|ENST00000623808.4:n.195-6522T>A|||||||rs2977612||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||1/2|ENST00000624927.3:n.416-2249T>A|||||||rs2977612||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA||2/5|ENST00000657175.1:n.147-2249T>A|||||||rs2977612||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA||2/5|ENST00000657837.1:n.206-6522T>A|||||||rs2977612||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA||2/4|ENST00000658846.2:n.244-2249T>A|||||||rs2977612||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA||2/6|ENST00000659124.2:n.271-2249T>A|||||||rs2977612||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000660797|lncRNA||||||||||rs2977612|3406|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA||3/6|ENST00000661237.3:n.394-2249T>A|||||||rs2977612||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA||2/7|ENST00000666741.2:n.244-2249T>A|||||||rs2977612||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000667414|lncRNA||2/2|ENST00000667414.1:n.244-2249T>A|||||||rs2977612||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000668541|lncRNA||||||||||rs2977612|3404|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000669922|lncRNA|3/3||ENST00000669922.1:n.4481T>A||4481|||||rs2977612||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA||3/7|ENST00000670780.1:n.3573+907T>A|||||||rs2977612||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670824|lncRNA||||||||||rs2977612|1811|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||1/3|ENST00000685334.1:n.72-6522T>A|||||||rs2977612||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA||1/3|ENST00000685566.1:n.116-6522T>A|||||||rs2977612||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA||2/5|ENST00000685764.2:n.236-6522T>A|||||||rs2977612||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA||3/7|ENST00000686238.1:n.394-2249T>A|||||||rs2977612||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA||2/6|ENST00000688008.2:n.242-2249T>A|||||||rs2977612||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA||2/5|ENST00000688309.1:n.271-6522T>A|||||||rs2977612||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688420|lncRNA||1/4|ENST00000688420.1:n.62-2249T>A|||||||rs2977612||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA||2/6|ENST00000691234.2:n.179-2249T>A|||||||rs2977612||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA||2/6|ENST00000691316.1:n.187-2249T>A|||||||rs2977612||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA||2/5|ENST00000692194.1:n.186-2249T>A|||||||rs2977612||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA||1/4|ENST00000701598.1:n.110-2249T>A|||||||rs2977612||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA||2/6|ENST00000701768.1:n.206-2249T>A|||||||rs2977612||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA||2/5|ENST00000702098.1:n.158-2249T>A|||||||rs2977612||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA||2/4|ENST00000702273.1:n.177-6522T>A|||||||rs2977612||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA||2/4|ENST00000702557.1:n.184-6522T>A|||||||rs2977612||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA||2/5|ENST00000702847.1:n.186-2249T>A|||||||rs2977612||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918351|enhancer||||||||||rs2977612||||SNV||||||||||||||||||||0.6693|0.3215|0.7594|0.7371|0.8748|0.7945||||||||||0.7051|0.3865|0.7686|0.7404|0.8387|0.7338|0.8066|0.7975|0.8571|0.7445|0.7943|0.8748|EUR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.833:8:0,0:0,4:0,4:0,0,4,4 -chr1 846240 . A G . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=2%2C4|1%2C1;DP=8;ECNT=1;GERMQ=42;MBQ=32,31;MFRL=0,0;MMQ=22,21;MPOS=138;POPAF=7.3;TLOD=3.67;SRC=snv;GRP=s001;CSQ=G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000415295|lncRNA||||||||||rs1569754325|4220|1||SNV|HGNC|HGNC:49377||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA||2/2|ENST00000416570.6:n.212-5687A>G|||||||rs1569754325||1||SNV|HGNC|HGNC:49377||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000441765|lncRNA||||||||||rs1569754325|4239|1||SNV|HGNC|HGNC:49377||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA||2/4|ENST00000445118.7:n.281-5687A>G|||||||rs1569754325||1||SNV|HGNC|HGNC:49377|YES|||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA||2/4|ENST00000448975.6:n.222-1414A>G|||||||rs1569754325||1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA||2/4|ENST00000449005.7:n.220-1414A>G|||||||rs1569754325||1||SNV|HGNC|HGNC:49377||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA||2/7|ENST00000608189.6:n.225-1414A>G|||||||rs1569754325||1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA||2/7|ENST00000609009.6:n.212-1414A>G|||||||rs1569754325||1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA||3/5|ENST00000609139.7:n.385+4867A>G|||||||rs1569754325||1||SNV|HGNC|HGNC:49377||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000610067|lncRNA||2/3|ENST00000610067.7:n.271-1414A>G|||||||rs1569754325||1||SNV|HGNC|HGNC:49377||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA||2/2|ENST00000622921.1:n.136-5687A>G|||||||rs1569754325||1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA||2/3|ENST00000623070.5:n.227-5687A>G|||||||rs1569754325||1||SNV|HGNC|HGNC:49377||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA||2/4|ENST00000623808.4:n.195-5687A>G|||||||rs1569754325||1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||1/2|ENST00000624927.3:n.416-1414A>G|||||||rs1569754325||1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA||2/5|ENST00000657175.1:n.147-1414A>G|||||||rs1569754325||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA||2/5|ENST00000657837.1:n.206-5687A>G|||||||rs1569754325||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA||2/4|ENST00000658846.2:n.244-1414A>G|||||||rs1569754325||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA||2/6|ENST00000659124.2:n.271-1414A>G|||||||rs1569754325||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000660797|lncRNA||||||||||rs1569754325|4241|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA||3/6|ENST00000661237.3:n.394-1414A>G|||||||rs1569754325||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA||2/7|ENST00000666741.2:n.244-1414A>G|||||||rs1569754325||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000667414|lncRNA||2/2|ENST00000667414.1:n.244-1414A>G|||||||rs1569754325||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000668541|lncRNA||||||||||rs1569754325|4239|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000669922|lncRNA|3/3||ENST00000669922.1:n.5316A>G||5316|||||rs1569754325||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA||3/7|ENST00000670780.1:n.3574-1414A>G|||||||rs1569754325||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670824|lncRNA||||||||||rs1569754325|2646|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||1/3|ENST00000685334.1:n.72-5687A>G|||||||rs1569754325||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA||1/3|ENST00000685566.1:n.116-5687A>G|||||||rs1569754325||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA||2/5|ENST00000685764.2:n.236-5687A>G|||||||rs1569754325||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA||3/7|ENST00000686238.1:n.394-1414A>G|||||||rs1569754325||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA||2/6|ENST00000688008.2:n.242-1414A>G|||||||rs1569754325||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA||2/5|ENST00000688309.1:n.271-5687A>G|||||||rs1569754325||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688420|lncRNA||1/4|ENST00000688420.1:n.62-1414A>G|||||||rs1569754325||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA||2/6|ENST00000691234.2:n.179-1414A>G|||||||rs1569754325||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA||2/6|ENST00000691316.1:n.187-1414A>G|||||||rs1569754325||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA||2/5|ENST00000692194.1:n.186-1414A>G|||||||rs1569754325||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA||1/4|ENST00000701598.1:n.110-1414A>G|||||||rs1569754325||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA||2/6|ENST00000701768.1:n.206-1414A>G|||||||rs1569754325||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA||2/5|ENST00000702098.1:n.158-1414A>G|||||||rs1569754325||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA||2/4|ENST00000702273.1:n.177-5687A>G|||||||rs1569754325||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA||2/4|ENST00000702557.1:n.184-5687A>G|||||||rs1569754325||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA||2/5|ENST00000702847.1:n.186-1414A>G|||||||rs1569754325||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918351|enhancer||||||||||rs1569754325||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,2:0.286:8:2,0:2,1:4,1:2,4,1,1 -chr1 849670 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C2;DP=5;ECNT=1;GERMQ=55;MBQ=0,33;MFRL=0,0;MMQ=60,44;MPOS=63;POPAF=7.3;TLOD=17.55;SRC=snv;GRP=s001;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA||2/2|ENST00000416570.6:n.212-2257G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000425657|retained_intron||||||||||rs2905062|1678|1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA||2/4|ENST00000445118.7:n.281-2257G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377|YES|||1||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA||3/4|ENST00000448975.6:n.375-511G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA||3/4|ENST00000449005.7:n.372+1864G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||1||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA||4/7|ENST00000608189.6:n.496+68G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA||4/7|ENST00000609009.6:n.483+68G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA||3/5|ENST00000609139.7:n.386-2257G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000610067|lncRNA|4/4||ENST00000610067.7:n.610G>A||610|||||rs2905062||1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA||2/2|ENST00000622921.1:n.136-2257G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA||2/3|ENST00000623070.5:n.227-2257G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA||2/4|ENST00000623808.4:n.195-2257G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||||||||||rs2905062|78|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA||3/5|ENST00000657175.1:n.299+1864G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA||2/5|ENST00000657837.1:n.206-2257G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA||3/4|ENST00000658846.2:n.396+1864G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA||3/6|ENST00000659124.2:n.423+1864G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA||4/6|ENST00000661237.3:n.546+1864G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA||4/7|ENST00000666741.2:n.515+68G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000667414|lncRNA||||||||||rs2905062|508|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000669922|lncRNA||||||||||rs2905062|3305|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA||4/7|ENST00000670780.1:n.3726+1864G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||1/3|ENST00000685334.1:n.72-2257G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA||1/3|ENST00000685566.1:n.116-2257G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA||2/5|ENST00000685764.2:n.236-2257G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA||5/7|ENST00000686238.1:n.665+68G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA||3/6|ENST00000688008.2:n.395-508G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA||2/5|ENST00000688309.1:n.271-2257G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688420|lncRNA||2/4|ENST00000688420.1:n.214+1864G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA||3/6|ENST00000691234.2:n.331+1864G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA||3/6|ENST00000691316.1:n.339+1864G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA||3/5|ENST00000692194.1:n.338+1864G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA||2/4|ENST00000701598.1:n.262+1864G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA||4/6|ENST00000701768.1:n.477+68G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA||3/5|ENST00000702098.1:n.310+1864G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA||2/4|ENST00000702273.1:n.177-2257G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA||2/4|ENST00000702557.1:n.184-2257G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA||3/5|ENST00000702847.1:n.338+1864G>A|||||||rs2905062||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6270|0.1679|0.7478|0.7361|0.8748|0.7945||||||||||0.6686|0.261|0.7686|0.7241|0.8389|0.7344|0.8063|0.7848|0.8566|0.7179|0.7923|0.8748|EUR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.8:5:0,0:0,3:0,3:0,0,3,2 -chr1 850142 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=25;POPAF=7.3;TLOD=3.48;SRC=snv;GRP=s001;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA||2/2|ENST00000416570.6:n.212-1785T>C|||||||rs61768200||1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.0028|0|0.0058|0|0.0099|0||||||||||0.005482|0.0008686|0.01864|0.007466|0.01671|0.0003852|0.002074|0.01899|0.007999|0.00956|0.003104|0.01899|gnomADg_MID|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000425657|retained_intron||||||||||rs61768200|1206|1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.0028|0|0.0058|0|0.0099|0||||||||||0.005482|0.0008686|0.01864|0.007466|0.01671|0.0003852|0.002074|0.01899|0.007999|0.00956|0.003104|0.01899|gnomADg_MID|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA||2/4|ENST00000445118.7:n.281-1785T>C|||||||rs61768200||1||SNV|HGNC|HGNC:49377|YES|||1||||||||||||||0.0028|0|0.0058|0|0.0099|0||||||||||0.005482|0.0008686|0.01864|0.007466|0.01671|0.0003852|0.002074|0.01899|0.007999|0.00956|0.003104|0.01899|gnomADg_MID|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA||3/4|ENST00000448975.6:n.375-39T>C|||||||rs61768200||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.0028|0|0.0058|0|0.0099|0||||||||||0.005482|0.0008686|0.01864|0.007466|0.01671|0.0003852|0.002074|0.01899|0.007999|0.00956|0.003104|0.01899|gnomADg_MID|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA||3/4|ENST00000449005.7:n.373-1785T>C|||||||rs61768200||1||SNV|HGNC|HGNC:49377||||1||||||||||||||0.0028|0|0.0058|0|0.0099|0||||||||||0.005482|0.0008686|0.01864|0.007466|0.01671|0.0003852|0.002074|0.01899|0.007999|0.00956|0.003104|0.01899|gnomADg_MID|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA||4/7|ENST00000608189.6:n.497-39T>C|||||||rs61768200||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.0028|0|0.0058|0|0.0099|0||||||||||0.005482|0.0008686|0.01864|0.007466|0.01671|0.0003852|0.002074|0.01899|0.007999|0.00956|0.003104|0.01899|gnomADg_MID|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA||4/7|ENST00000609009.6:n.484-36T>C|||||||rs61768200||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.0028|0|0.0058|0|0.0099|0||||||||||0.005482|0.0008686|0.01864|0.007466|0.01671|0.0003852|0.002074|0.01899|0.007999|0.00956|0.003104|0.01899|gnomADg_MID|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA||3/5|ENST00000609139.7:n.386-1785T>C|||||||rs61768200||1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.0028|0|0.0058|0|0.0099|0||||||||||0.005482|0.0008686|0.01864|0.007466|0.01671|0.0003852|0.002074|0.01899|0.007999|0.00956|0.003104|0.01899|gnomADg_MID|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000610067|lncRNA|4/4||ENST00000610067.7:n.1082T>C||1082|||||rs61768200||1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.0028|0|0.0058|0|0.0099|0||||||||||0.005482|0.0008686|0.01864|0.007466|0.01671|0.0003852|0.002074|0.01899|0.007999|0.00956|0.003104|0.01899|gnomADg_MID|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA||2/2|ENST00000622921.1:n.136-1785T>C|||||||rs61768200||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.0028|0|0.0058|0|0.0099|0||||||||||0.005482|0.0008686|0.01864|0.007466|0.01671|0.0003852|0.002074|0.01899|0.007999|0.00956|0.003104|0.01899|gnomADg_MID|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA||2/3|ENST00000623070.5:n.227-1785T>C|||||||rs61768200||1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.0028|0|0.0058|0|0.0099|0||||||||||0.005482|0.0008686|0.01864|0.007466|0.01671|0.0003852|0.002074|0.01899|0.007999|0.00956|0.003104|0.01899|gnomADg_MID|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA||2/4|ENST00000623808.4:n.195-1785T>C|||||||rs61768200||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.0028|0|0.0058|0|0.0099|0||||||||||0.005482|0.0008686|0.01864|0.007466|0.01671|0.0003852|0.002074|0.01899|0.007999|0.00956|0.003104|0.01899|gnomADg_MID|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||||||||||rs61768200|550|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.0028|0|0.0058|0|0.0099|0||||||||||0.005482|0.0008686|0.01864|0.007466|0.01671|0.0003852|0.002074|0.01899|0.007999|0.00956|0.003104|0.01899|gnomADg_MID|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA||3/5|ENST00000657175.1:n.300-1785T>C|||||||rs61768200||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.0028|0|0.0058|0|0.0099|0||||||||||0.005482|0.0008686|0.01864|0.007466|0.01671|0.0003852|0.002074|0.01899|0.007999|0.00956|0.003104|0.01899|gnomADg_MID|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA||2/5|ENST00000657837.1:n.206-1785T>C|||||||rs61768200||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.0028|0|0.0058|0|0.0099|0||||||||||0.005482|0.0008686|0.01864|0.007466|0.01671|0.0003852|0.002074|0.01899|0.007999|0.00956|0.003104|0.01899|gnomADg_MID|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA||3/4|ENST00000658846.2:n.397-1785T>C|||||||rs61768200||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.0028|0|0.0058|0|0.0099|0||||||||||0.005482|0.0008686|0.01864|0.007466|0.01671|0.0003852|0.002074|0.01899|0.007999|0.00956|0.003104|0.01899|gnomADg_MID|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA||3/6|ENST00000659124.2:n.424-1785T>C|||||||rs61768200||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.0028|0|0.0058|0|0.0099|0||||||||||0.005482|0.0008686|0.01864|0.007466|0.01671|0.0003852|0.002074|0.01899|0.007999|0.00956|0.003104|0.01899|gnomADg_MID|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA||4/6|ENST00000661237.3:n.547-1785T>C|||||||rs61768200||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.0028|0|0.0058|0|0.0099|0||||||||||0.005482|0.0008686|0.01864|0.007466|0.01671|0.0003852|0.002074|0.01899|0.007999|0.00956|0.003104|0.01899|gnomADg_MID|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA||4/7|ENST00000666741.2:n.515+540T>C|||||||rs61768200||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.0028|0|0.0058|0|0.0099|0||||||||||0.005482|0.0008686|0.01864|0.007466|0.01671|0.0003852|0.002074|0.01899|0.007999|0.00956|0.003104|0.01899|gnomADg_MID|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000667414|lncRNA||||||||||rs61768200|980|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.0028|0|0.0058|0|0.0099|0||||||||||0.005482|0.0008686|0.01864|0.007466|0.01671|0.0003852|0.002074|0.01899|0.007999|0.00956|0.003104|0.01899|gnomADg_MID|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000669922|lncRNA||||||||||rs61768200|3777|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.0028|0|0.0058|0|0.0099|0||||||||||0.005482|0.0008686|0.01864|0.007466|0.01671|0.0003852|0.002074|0.01899|0.007999|0.00956|0.003104|0.01899|gnomADg_MID|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA||4/7|ENST00000670780.1:n.3727-1785T>C|||||||rs61768200||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.0028|0|0.0058|0|0.0099|0||||||||||0.005482|0.0008686|0.01864|0.007466|0.01671|0.0003852|0.002074|0.01899|0.007999|0.00956|0.003104|0.01899|gnomADg_MID|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||1/3|ENST00000685334.1:n.72-1785T>C|||||||rs61768200||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.0028|0|0.0058|0|0.0099|0||||||||||0.005482|0.0008686|0.01864|0.007466|0.01671|0.0003852|0.002074|0.01899|0.007999|0.00956|0.003104|0.01899|gnomADg_MID|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA||1/3|ENST00000685566.1:n.116-1785T>C|||||||rs61768200||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.0028|0|0.0058|0|0.0099|0||||||||||0.005482|0.0008686|0.01864|0.007466|0.01671|0.0003852|0.002074|0.01899|0.007999|0.00956|0.003104|0.01899|gnomADg_MID|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA||2/5|ENST00000685764.2:n.236-1785T>C|||||||rs61768200||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.0028|0|0.0058|0|0.0099|0||||||||||0.005482|0.0008686|0.01864|0.007466|0.01671|0.0003852|0.002074|0.01899|0.007999|0.00956|0.003104|0.01899|gnomADg_MID|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA||5/7|ENST00000686238.1:n.665+540T>C|||||||rs61768200||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.0028|0|0.0058|0|0.0099|0||||||||||0.005482|0.0008686|0.01864|0.007466|0.01671|0.0003852|0.002074|0.01899|0.007999|0.00956|0.003104|0.01899|gnomADg_MID|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA||3/6|ENST00000688008.2:n.395-36T>C|||||||rs61768200||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.0028|0|0.0058|0|0.0099|0||||||||||0.005482|0.0008686|0.01864|0.007466|0.01671|0.0003852|0.002074|0.01899|0.007999|0.00956|0.003104|0.01899|gnomADg_MID|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA||2/5|ENST00000688309.1:n.271-1785T>C|||||||rs61768200||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.0028|0|0.0058|0|0.0099|0||||||||||0.005482|0.0008686|0.01864|0.007466|0.01671|0.0003852|0.002074|0.01899|0.007999|0.00956|0.003104|0.01899|gnomADg_MID|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688420|lncRNA||2/4|ENST00000688420.1:n.215-1785T>C|||||||rs61768200||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.0028|0|0.0058|0|0.0099|0||||||||||0.005482|0.0008686|0.01864|0.007466|0.01671|0.0003852|0.002074|0.01899|0.007999|0.00956|0.003104|0.01899|gnomADg_MID|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA||3/6|ENST00000691234.2:n.332-1785T>C|||||||rs61768200||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.0028|0|0.0058|0|0.0099|0||||||||||0.005482|0.0008686|0.01864|0.007466|0.01671|0.0003852|0.002074|0.01899|0.007999|0.00956|0.003104|0.01899|gnomADg_MID|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA||3/6|ENST00000691316.1:n.340-1785T>C|||||||rs61768200||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.0028|0|0.0058|0|0.0099|0||||||||||0.005482|0.0008686|0.01864|0.007466|0.01671|0.0003852|0.002074|0.01899|0.007999|0.00956|0.003104|0.01899|gnomADg_MID|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA||3/5|ENST00000692194.1:n.339-1785T>C|||||||rs61768200||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.0028|0|0.0058|0|0.0099|0||||||||||0.005482|0.0008686|0.01864|0.007466|0.01671|0.0003852|0.002074|0.01899|0.007999|0.00956|0.003104|0.01899|gnomADg_MID|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA||2/4|ENST00000701598.1:n.263-1785T>C|||||||rs61768200||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.0028|0|0.0058|0|0.0099|0||||||||||0.005482|0.0008686|0.01864|0.007466|0.01671|0.0003852|0.002074|0.01899|0.007999|0.00956|0.003104|0.01899|gnomADg_MID|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA||4/6|ENST00000701768.1:n.477+540T>C|||||||rs61768200||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.0028|0|0.0058|0|0.0099|0||||||||||0.005482|0.0008686|0.01864|0.007466|0.01671|0.0003852|0.002074|0.01899|0.007999|0.00956|0.003104|0.01899|gnomADg_MID|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA||3/5|ENST00000702098.1:n.311-1785T>C|||||||rs61768200||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.0028|0|0.0058|0|0.0099|0||||||||||0.005482|0.0008686|0.01864|0.007466|0.01671|0.0003852|0.002074|0.01899|0.007999|0.00956|0.003104|0.01899|gnomADg_MID|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA||2/4|ENST00000702273.1:n.177-1785T>C|||||||rs61768200||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.0028|0|0.0058|0|0.0099|0||||||||||0.005482|0.0008686|0.01864|0.007466|0.01671|0.0003852|0.002074|0.01899|0.007999|0.00956|0.003104|0.01899|gnomADg_MID|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA||2/4|ENST00000702557.1:n.184-1785T>C|||||||rs61768200||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.0028|0|0.0058|0|0.0099|0||||||||||0.005482|0.0008686|0.01864|0.007466|0.01671|0.0003852|0.002074|0.01899|0.007999|0.00956|0.003104|0.01899|gnomADg_MID|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA||3/5|ENST00000702847.1:n.339-1785T>C|||||||rs61768200||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.0028|0|0.0058|0|0.0099|0||||||||||0.005482|0.0008686|0.01864|0.007466|0.01671|0.0003852|0.002074|0.01899|0.007999|0.00956|0.003104|0.01899|gnomADg_MID|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000249793|CTCF_binding_site||||||||||rs61768200||||SNV||||||||||||||||||||0.0028|0|0.0058|0|0.0099|0||||||||||0.005482|0.0008686|0.01864|0.007466|0.01671|0.0003852|0.002074|0.01899|0.007999|0.00956|0.003104|0.01899|gnomADg_MID||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 851882 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=1;GERMQ=52;MBQ=0,32;MFRL=0,0;MMQ=60,44;MPOS=26;POPAF=7.3;TLOD=13.4;SRC=snv;GRP=s001;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA||2/2|ENST00000416570.6:n.212-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000425657|retained_intron|1/2||ENST00000425657.1:n.535C>G||535|||||rs2905056||1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA||2/4|ENST00000445118.7:n.281-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377|YES|||1||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA||4/4|ENST00000448975.6:n.546-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA||3/4|ENST00000449005.7:n.373-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||1||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA||5/7|ENST00000608189.6:n.668-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA||5/7|ENST00000609009.6:n.658-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA||3/5|ENST00000609139.7:n.386-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000610067|lncRNA||||||||||rs2905056|757|1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA||2/2|ENST00000622921.1:n.136-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA||2/3|ENST00000623070.5:n.227-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA||2/4|ENST00000623808.4:n.195-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||||||||||rs2905056|2290|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA||3/5|ENST00000657175.1:n.300-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA||2/5|ENST00000657837.1:n.206-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA||3/4|ENST00000658846.2:n.397-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA||3/6|ENST00000659124.2:n.424-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA||4/6|ENST00000661237.3:n.547-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA||4/7|ENST00000666741.2:n.516-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000667414|lncRNA||||||||||rs2905056|2720|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA||4/7|ENST00000670780.1:n.3727-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||1/3|ENST00000685334.1:n.72-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA||1/3|ENST00000685566.1:n.116-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA||2/5|ENST00000685764.2:n.236-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA||5/7|ENST00000686238.1:n.666-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA||4/6|ENST00000688008.2:n.569-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA||2/5|ENST00000688309.1:n.271-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688420|lncRNA||2/4|ENST00000688420.1:n.215-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA||3/6|ENST00000691234.2:n.332-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA||3/6|ENST00000691316.1:n.340-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA||3/5|ENST00000692194.1:n.339-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA||2/4|ENST00000701598.1:n.263-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA||4/6|ENST00000701768.1:n.478-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA||3/5|ENST00000702098.1:n.311-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA||2/4|ENST00000702273.1:n.177-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA||2/4|ENST00000702557.1:n.184-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA||3/5|ENST00000702847.1:n.339-45C>G|||||||rs2905056||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7528|0.4614|0.83|0.8859|0.8767|0.8272||||||||||0.7513|0.4988|0.7699|0.8099|0.8495|0.893|0.8041|0.8025|0.8598|0.7855|0.8183|0.893|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 852019 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|12%2C9;DP=24;ECNT=1;GERMQ=71;MBQ=31,33;MFRL=0,0;MMQ=60,44;MPOS=83;POPAF=7.3;TLOD=73.51;SRC=snv;GRP=s001;CSQ=T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA|3/3||ENST00000416570.6:n.304G>T||304|||||rs2905055||1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000425657|retained_intron|1/2||ENST00000425657.1:n.672G>T||672|||||rs2905055||1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA|3/5||ENST00000445118.7:n.373G>T||373|||||rs2905055||1||SNV|HGNC|HGNC:49377|YES|||1||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA||||||||||rs2905055|5|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA|4/5||ENST00000449005.7:n.465G>T||465|||||rs2905055||1||SNV|HGNC|HGNC:49377||||1||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA|6/8||ENST00000608189.6:n.760G>T||760|||||rs2905055||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA|6/8||ENST00000609009.6:n.750G>T||750|||||rs2905055||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA|4/6||ENST00000609139.7:n.478G>T||478|||||rs2905055||1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000610067|lncRNA||||||||||rs2905055|894|1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA|3/3||ENST00000622921.1:n.228G>T||228|||||rs2905055||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA|3/4||ENST00000623070.5:n.319G>T||319|||||rs2905055||1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA|3/5||ENST00000623808.4:n.287G>T||287|||||rs2905055||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||||||||||rs2905055|2427|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA|4/6||ENST00000657175.1:n.392G>T||392|||||rs2905055||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|splice_donor_5th_base_variant&intron_variant&non_coding_transcript_variant|LOW|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA||3/5|ENST00000657837.1:n.293+5G>T|||||||rs2905055||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA|4/5||ENST00000658846.2:n.489G>T||489|||||rs2905055||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA|4/7||ENST00000659124.2:n.516G>T||516|||||rs2905055||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA|5/7||ENST00000661237.3:n.639G>T||639|||||rs2905055||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA|5/8||ENST00000666741.2:n.608G>T||608|||||rs2905055||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000667414|lncRNA||||||||||rs2905055|2857|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA|5/8||ENST00000670780.1:n.3819G>T||3819|||||rs2905055||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA|2/4||ENST00000685334.1:n.164G>T||164|||||rs2905055||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA|2/4||ENST00000685566.1:n.208G>T||208|||||rs2905055||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA|3/6||ENST00000685764.2:n.328G>T||328|||||rs2905055||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA|6/8||ENST00000686238.1:n.758G>T||758|||||rs2905055||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA|5/7||ENST00000688008.2:n.661G>T||661|||||rs2905055||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA|3/6||ENST00000688309.1:n.363G>T||363|||||rs2905055||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688420|lncRNA|3/5||ENST00000688420.1:n.307G>T||307|||||rs2905055||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA|4/7||ENST00000691234.2:n.424G>T||424|||||rs2905055||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA|4/7||ENST00000691316.1:n.432G>T||432|||||rs2905055||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA|4/6||ENST00000692194.1:n.431G>T||431|||||rs2905055||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA|3/5||ENST00000701598.1:n.355G>T||355|||||rs2905055||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA|5/7||ENST00000701768.1:n.570G>T||570|||||rs2905055||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA|4/6||ENST00000702098.1:n.403G>T||403|||||rs2905055||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA|3/5||ENST00000702273.1:n.269G>T||269|||||rs2905055||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA|3/5||ENST00000702557.1:n.276G>T||276|||||rs2905055||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA|4/6||ENST00000702847.1:n.431G>T||431|||||rs2905055||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918352|enhancer||||||||||rs2905055||||SNV||||||||||||||||||||0.6464|0.2322|0.7478|0.7659|0.8658|0.7853||||||||||0.6813|0.3062|0.7686|0.7278|0.8356|0.7643|0.8055|0.7771|0.8553|0.7286|0.7903|0.8658|EUR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,21:0.896:23:0,4:1,12:1,16:1,1,12,9 -chr1 852305 . G T . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,32;MFRL=0,0;MMQ=60,21;MPOS=66;POPAF=7.3;TLOD=4.85;SRC=snv;GRP=s001;CSQ=T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA|3/3||ENST00000416570.6:n.590G>T||590|||||rs2905054||1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.6222|0.1664|0.7406|0.7341|0.8718|0.7822||||||||||0.6538|0.2535|0.7578|0.7105|0.8046|0.7233|0.7973|0.7628|0.8394|0.6978|0.7713|0.8718|EUR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000425657|retained_intron||1/1|ENST00000425657.1:n.763+195G>T|||||||rs2905054||1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.6222|0.1664|0.7406|0.7341|0.8718|0.7822||||||||||0.6538|0.2535|0.7578|0.7105|0.8046|0.7233|0.7973|0.7628|0.8394|0.6978|0.7713|0.8718|EUR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA||3/4|ENST00000445118.7:n.464+195G>T|||||||rs2905054||1||SNV|HGNC|HGNC:49377|YES|||1||||||||||||||0.6222|0.1664|0.7406|0.7341|0.8718|0.7822||||||||||0.6538|0.2535|0.7578|0.7105|0.8046|0.7233|0.7973|0.7628|0.8394|0.6978|0.7713|0.8718|EUR|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA||||||||||rs2905054|291|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.6222|0.1664|0.7406|0.7341|0.8718|0.7822||||||||||0.6538|0.2535|0.7578|0.7105|0.8046|0.7233|0.7973|0.7628|0.8394|0.6978|0.7713|0.8718|EUR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA||4/4|ENST00000449005.7:n.556+195G>T|||||||rs2905054||1||SNV|HGNC|HGNC:49377||||1||||||||||||||0.6222|0.1664|0.7406|0.7341|0.8718|0.7822||||||||||0.6538|0.2535|0.7578|0.7105|0.8046|0.7233|0.7973|0.7628|0.8394|0.6978|0.7713|0.8718|EUR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA||6/7|ENST00000608189.6:n.851+195G>T|||||||rs2905054||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.6222|0.1664|0.7406|0.7341|0.8718|0.7822||||||||||0.6538|0.2535|0.7578|0.7105|0.8046|0.7233|0.7973|0.7628|0.8394|0.6978|0.7713|0.8718|EUR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA||6/7|ENST00000609009.6:n.841+195G>T|||||||rs2905054||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.6222|0.1664|0.7406|0.7341|0.8718|0.7822||||||||||0.6538|0.2535|0.7578|0.7105|0.8046|0.7233|0.7973|0.7628|0.8394|0.6978|0.7713|0.8718|EUR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA||4/5|ENST00000609139.7:n.569+195G>T|||||||rs2905054||1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.6222|0.1664|0.7406|0.7341|0.8718|0.7822||||||||||0.6538|0.2535|0.7578|0.7105|0.8046|0.7233|0.7973|0.7628|0.8394|0.6978|0.7713|0.8718|EUR|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000610067|lncRNA||||||||||rs2905054|1180|1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.6222|0.1664|0.7406|0.7341|0.8718|0.7822||||||||||0.6538|0.2535|0.7578|0.7105|0.8046|0.7233|0.7973|0.7628|0.8394|0.6978|0.7713|0.8718|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA|3/3||ENST00000622921.1:n.514G>T||514|||||rs2905054||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.6222|0.1664|0.7406|0.7341|0.8718|0.7822||||||||||0.6538|0.2535|0.7578|0.7105|0.8046|0.7233|0.7973|0.7628|0.8394|0.6978|0.7713|0.8718|EUR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA||3/3|ENST00000623070.5:n.410+195G>T|||||||rs2905054||1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.6222|0.1664|0.7406|0.7341|0.8718|0.7822||||||||||0.6538|0.2535|0.7578|0.7105|0.8046|0.7233|0.7973|0.7628|0.8394|0.6978|0.7713|0.8718|EUR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA||3/4|ENST00000623808.4:n.501+72G>T|||||||rs2905054||1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.6222|0.1664|0.7406|0.7341|0.8718|0.7822||||||||||0.6538|0.2535|0.7578|0.7105|0.8046|0.7233|0.7973|0.7628|0.8394|0.6978|0.7713|0.8718|EUR|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||||||||||rs2905054|2713|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.6222|0.1664|0.7406|0.7341|0.8718|0.7822||||||||||0.6538|0.2535|0.7578|0.7105|0.8046|0.7233|0.7973|0.7628|0.8394|0.6978|0.7713|0.8718|EUR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA||4/5|ENST00000657175.1:n.467+211G>T|||||||rs2905054||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6222|0.1664|0.7406|0.7341|0.8718|0.7822||||||||||0.6538|0.2535|0.7578|0.7105|0.8046|0.7233|0.7973|0.7628|0.8394|0.6978|0.7713|0.8718|EUR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA||3/5|ENST00000657837.1:n.293+291G>T|||||||rs2905054||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6222|0.1664|0.7406|0.7341|0.8718|0.7822||||||||||0.6538|0.2535|0.7578|0.7105|0.8046|0.7233|0.7973|0.7628|0.8394|0.6978|0.7713|0.8718|EUR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA|4/5||ENST00000658846.2:n.775G>T||775|||||rs2905054||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6222|0.1664|0.7406|0.7341|0.8718|0.7822||||||||||0.6538|0.2535|0.7578|0.7105|0.8046|0.7233|0.7973|0.7628|0.8394|0.6978|0.7713|0.8718|EUR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA||4/6|ENST00000659124.2:n.607+195G>T|||||||rs2905054||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6222|0.1664|0.7406|0.7341|0.8718|0.7822||||||||||0.6538|0.2535|0.7578|0.7105|0.8046|0.7233|0.7973|0.7628|0.8394|0.6978|0.7713|0.8718|EUR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA||5/6|ENST00000661237.3:n.730+195G>T|||||||rs2905054||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6222|0.1664|0.7406|0.7341|0.8718|0.7822||||||||||0.6538|0.2535|0.7578|0.7105|0.8046|0.7233|0.7973|0.7628|0.8394|0.6978|0.7713|0.8718|EUR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA||5/7|ENST00000666741.2:n.699+195G>T|||||||rs2905054||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6222|0.1664|0.7406|0.7341|0.8718|0.7822||||||||||0.6538|0.2535|0.7578|0.7105|0.8046|0.7233|0.7973|0.7628|0.8394|0.6978|0.7713|0.8718|EUR|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000667414|lncRNA||||||||||rs2905054|3143|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6222|0.1664|0.7406|0.7341|0.8718|0.7822||||||||||0.6538|0.2535|0.7578|0.7105|0.8046|0.7233|0.7973|0.7628|0.8394|0.6978|0.7713|0.8718|EUR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA||5/7|ENST00000670780.1:n.3910+195G>T|||||||rs2905054||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6222|0.1664|0.7406|0.7341|0.8718|0.7822||||||||||0.6538|0.2535|0.7578|0.7105|0.8046|0.7233|0.7973|0.7628|0.8394|0.6978|0.7713|0.8718|EUR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||2/3|ENST00000685334.1:n.255+195G>T|||||||rs2905054||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6222|0.1664|0.7406|0.7341|0.8718|0.7822||||||||||0.6538|0.2535|0.7578|0.7105|0.8046|0.7233|0.7973|0.7628|0.8394|0.6978|0.7713|0.8718|EUR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA||2/3|ENST00000685566.1:n.299+195G>T|||||||rs2905054||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6222|0.1664|0.7406|0.7341|0.8718|0.7822||||||||||0.6538|0.2535|0.7578|0.7105|0.8046|0.7233|0.7973|0.7628|0.8394|0.6978|0.7713|0.8718|EUR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA||3/5|ENST00000685764.2:n.419+195G>T|||||||rs2905054||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6222|0.1664|0.7406|0.7341|0.8718|0.7822||||||||||0.6538|0.2535|0.7578|0.7105|0.8046|0.7233|0.7973|0.7628|0.8394|0.6978|0.7713|0.8718|EUR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA||6/7|ENST00000686238.1:n.849+195G>T|||||||rs2905054||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6222|0.1664|0.7406|0.7341|0.8718|0.7822||||||||||0.6538|0.2535|0.7578|0.7105|0.8046|0.7233|0.7973|0.7628|0.8394|0.6978|0.7713|0.8718|EUR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA||5/6|ENST00000688008.2:n.752+195G>T|||||||rs2905054||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6222|0.1664|0.7406|0.7341|0.8718|0.7822||||||||||0.6538|0.2535|0.7578|0.7105|0.8046|0.7233|0.7973|0.7628|0.8394|0.6978|0.7713|0.8718|EUR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA||3/5|ENST00000688309.1:n.454+195G>T|||||||rs2905054||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6222|0.1664|0.7406|0.7341|0.8718|0.7822||||||||||0.6538|0.2535|0.7578|0.7105|0.8046|0.7233|0.7973|0.7628|0.8394|0.6978|0.7713|0.8718|EUR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688420|lncRNA||3/4|ENST00000688420.1:n.398+195G>T|||||||rs2905054||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6222|0.1664|0.7406|0.7341|0.8718|0.7822||||||||||0.6538|0.2535|0.7578|0.7105|0.8046|0.7233|0.7973|0.7628|0.8394|0.6978|0.7713|0.8718|EUR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA||4/6|ENST00000691234.2:n.515+195G>T|||||||rs2905054||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6222|0.1664|0.7406|0.7341|0.8718|0.7822||||||||||0.6538|0.2535|0.7578|0.7105|0.8046|0.7233|0.7973|0.7628|0.8394|0.6978|0.7713|0.8718|EUR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA||4/6|ENST00000691316.1:n.523+195G>T|||||||rs2905054||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6222|0.1664|0.7406|0.7341|0.8718|0.7822||||||||||0.6538|0.2535|0.7578|0.7105|0.8046|0.7233|0.7973|0.7628|0.8394|0.6978|0.7713|0.8718|EUR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA||4/5|ENST00000692194.1:n.522+195G>T|||||||rs2905054||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6222|0.1664|0.7406|0.7341|0.8718|0.7822||||||||||0.6538|0.2535|0.7578|0.7105|0.8046|0.7233|0.7973|0.7628|0.8394|0.6978|0.7713|0.8718|EUR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA||3/4|ENST00000701598.1:n.446+195G>T|||||||rs2905054||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6222|0.1664|0.7406|0.7341|0.8718|0.7822||||||||||0.6538|0.2535|0.7578|0.7105|0.8046|0.7233|0.7973|0.7628|0.8394|0.6978|0.7713|0.8718|EUR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA||5/6|ENST00000701768.1:n.661+195G>T|||||||rs2905054||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6222|0.1664|0.7406|0.7341|0.8718|0.7822||||||||||0.6538|0.2535|0.7578|0.7105|0.8046|0.7233|0.7973|0.7628|0.8394|0.6978|0.7713|0.8718|EUR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA||4/5|ENST00000702098.1:n.473+216G>T|||||||rs2905054||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6222|0.1664|0.7406|0.7341|0.8718|0.7822||||||||||0.6538|0.2535|0.7578|0.7105|0.8046|0.7233|0.7973|0.7628|0.8394|0.6978|0.7713|0.8718|EUR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA||3/4|ENST00000702273.1:n.339+216G>T|||||||rs2905054||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6222|0.1664|0.7406|0.7341|0.8718|0.7822||||||||||0.6538|0.2535|0.7578|0.7105|0.8046|0.7233|0.7973|0.7628|0.8394|0.6978|0.7713|0.8718|EUR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA||3/4|ENST00000702557.1:n.367+195G>T|||||||rs2905054||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6222|0.1664|0.7406|0.7341|0.8718|0.7822||||||||||0.6538|0.2535|0.7578|0.7105|0.8046|0.7233|0.7973|0.7628|0.8394|0.6978|0.7713|0.8718|EUR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA||4/5|ENST00000702847.1:n.522+195G>T|||||||rs2905054||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.6222|0.1664|0.7406|0.7341|0.8718|0.7822||||||||||0.6538|0.2535|0.7578|0.7105|0.8046|0.7233|0.7973|0.7628|0.8394|0.6978|0.7713|0.8718|EUR|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918352|enhancer||||||||||rs2905054||||SNV||||||||||||||||||||0.6222|0.1664|0.7406|0.7341|0.8718|0.7822||||||||||0.6538|0.2535|0.7578|0.7105|0.8046|0.7233|0.7973|0.7628|0.8394|0.6978|0.7713|0.8718|EUR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 853565 . G C . haplotype;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|0%2C0;DP=3;ECNT=2;GERMQ=46;MBQ=0,32;MFRL=0,0;MMQ=60,25;MPOS=128;POPAF=7.3;TLOD=8.47;SRC=snv;GRP=s001;CSQ=C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA|3/3||ENST00000416570.6:n.1850G>C||1850|||||rs76619733||1||SNV|HGNC|HGNC:49377||||3|||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000425657|retained_intron||||||||||rs76619733|813|1||SNV|HGNC|HGNC:49377||||3|||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA|5/5||ENST00000445118.7:n.735G>C||735|||||rs76619733||1||SNV|HGNC|HGNC:49377|YES|||1|||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA||||||||||rs76619733|1551|1||SNV|HGNC|HGNC:49377||||5|||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA|5/5||ENST00000449005.7:n.731G>C||731|||||rs76619733||1||SNV|HGNC|HGNC:49377||||1|||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA|8/8||ENST00000608189.6:n.1122G>C||1122|||||rs76619733||1||SNV|HGNC|HGNC:49377||||5|||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA|8/8||ENST00000609009.6:n.1112G>C||1112|||||rs76619733||1||SNV|HGNC|HGNC:49377||||5|||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA|6/6||ENST00000609139.7:n.840G>C||840|||||rs76619733||1||SNV|HGNC|HGNC:49377||||3|||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000610067|lncRNA||||||||||rs76619733|2440|1||SNV|HGNC|HGNC:49377||||4|||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA||||||||||rs76619733|1050|1||SNV|HGNC|HGNC:49377||||5|||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA|4/4||ENST00000623070.5:n.585G>C||585|||||rs76619733||1||SNV|HGNC|HGNC:49377||||4|||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA|5/5||ENST00000623808.4:n.772G>C||772|||||rs76619733||1||SNV|HGNC|HGNC:49377||||5|||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||||||||||rs76619733|3973|1||SNV|HGNC|HGNC:49377||||5|||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA|6/6||ENST00000657175.1:n.738G>C||738|||||rs76619733||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA|5/6||ENST00000657837.1:n.564G>C||564|||||rs76619733||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA|5/5||ENST00000658846.2:n.1411G>C||1411|||||rs76619733||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA|6/7||ENST00000659124.2:n.878G>C||878|||||rs76619733||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA|7/7||ENST00000661237.3:n.1001G>C||1001|||||rs76619733||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA|7/8||ENST00000666741.2:n.970G>C||970|||||rs76619733||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000667414|lncRNA||||||||||rs76619733|4403|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA|7/8||ENST00000670780.1:n.4181G>C||4181|||||rs76619733||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA|4/4||ENST00000685334.1:n.526G>C||526|||||rs76619733||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA|4/4||ENST00000685566.1:n.570G>C||570|||||rs76619733||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA|5/6||ENST00000685764.2:n.690G>C||690|||||rs76619733||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA|8/8||ENST00000686238.1:n.1120G>C||1120|||||rs76619733||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA|7/7||ENST00000688008.2:n.1023G>C||1023|||||rs76619733||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA|5/6||ENST00000688309.1:n.725G>C||725|||||rs76619733||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688420|lncRNA|5/5||ENST00000688420.1:n.669G>C||669|||||rs76619733||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA|6/7||ENST00000691234.2:n.786G>C||786|||||rs76619733||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA|6/7||ENST00000691316.1:n.794G>C||794|||||rs76619733||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA|6/6||ENST00000692194.1:n.717G>C||717|||||rs76619733||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA|5/5||ENST00000701598.1:n.717G>C||717|||||rs76619733||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA|6/7||ENST00000701768.1:n.836G>C||836|||||rs76619733||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA|6/6||ENST00000702098.1:n.744G>C||744|||||rs76619733||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA|5/5||ENST00000702273.1:n.610G>C||610|||||rs76619733||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA|5/5||ENST00000702557.1:n.638G>C||638|||||rs76619733||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA|6/6||ENST00000702847.1:n.793G>C||793|||||rs76619733||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.5034|0.1195|0.6346|0.5534|0.7582|0.613|0.6729|0.375|0.7605|0.5079|0.6859|0.7605|gnomADg_NFE||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,2:0.764:2:0,0:0,1:0,2:0|1:853565_G_C:853565:0,0,1,1 -chr1 853572 . G A . haplotype;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=2;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,25;MPOS=135;POPAF=7.3;TLOD=8.52;SRC=snv;GRP=s001;CSQ=A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA|3/3||ENST00000416570.6:n.1857G>A||1857|||||rs55764050||1||SNV|HGNC|HGNC:49377||||3|||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000425657|retained_intron||||||||||rs55764050|820|1||SNV|HGNC|HGNC:49377||||3|||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA|5/5||ENST00000445118.7:n.742G>A||742|||||rs55764050||1||SNV|HGNC|HGNC:49377|YES|||1|||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA||||||||||rs55764050|1558|1||SNV|HGNC|HGNC:49377||||5|||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA|5/5||ENST00000449005.7:n.738G>A||738|||||rs55764050||1||SNV|HGNC|HGNC:49377||||1|||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA|8/8||ENST00000608189.6:n.1129G>A||1129|||||rs55764050||1||SNV|HGNC|HGNC:49377||||5|||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA|8/8||ENST00000609009.6:n.1119G>A||1119|||||rs55764050||1||SNV|HGNC|HGNC:49377||||5|||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA|6/6||ENST00000609139.7:n.847G>A||847|||||rs55764050||1||SNV|HGNC|HGNC:49377||||3|||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000610067|lncRNA||||||||||rs55764050|2447|1||SNV|HGNC|HGNC:49377||||4|||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA||||||||||rs55764050|1057|1||SNV|HGNC|HGNC:49377||||5|||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA|4/4||ENST00000623070.5:n.592G>A||592|||||rs55764050||1||SNV|HGNC|HGNC:49377||||4|||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA|5/5||ENST00000623808.4:n.779G>A||779|||||rs55764050||1||SNV|HGNC|HGNC:49377||||5|||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000624927|lncRNA||||||||||rs55764050|3980|1||SNV|HGNC|HGNC:49377||||5|||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA|6/6||ENST00000657175.1:n.745G>A||745|||||rs55764050||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA|5/6||ENST00000657837.1:n.571G>A||571|||||rs55764050||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA|5/5||ENST00000658846.2:n.1418G>A||1418|||||rs55764050||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA|6/7||ENST00000659124.2:n.885G>A||885|||||rs55764050||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA|7/7||ENST00000661237.3:n.1008G>A||1008|||||rs55764050||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA|7/8||ENST00000666741.2:n.977G>A||977|||||rs55764050||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000667414|lncRNA||||||||||rs55764050|4410|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA|7/8||ENST00000670780.1:n.4188G>A||4188|||||rs55764050||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA|4/4||ENST00000685334.1:n.533G>A||533|||||rs55764050||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA|4/4||ENST00000685566.1:n.577G>A||577|||||rs55764050||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA|5/6||ENST00000685764.2:n.697G>A||697|||||rs55764050||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA|8/8||ENST00000686238.1:n.1127G>A||1127|||||rs55764050||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA|7/7||ENST00000688008.2:n.1030G>A||1030|||||rs55764050||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA|5/6||ENST00000688309.1:n.732G>A||732|||||rs55764050||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688420|lncRNA|5/5||ENST00000688420.1:n.676G>A||676|||||rs55764050||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA|6/7||ENST00000691234.2:n.793G>A||793|||||rs55764050||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA|6/7||ENST00000691316.1:n.801G>A||801|||||rs55764050||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA|6/6||ENST00000692194.1:n.724G>A||724|||||rs55764050||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA|5/5||ENST00000701598.1:n.724G>A||724|||||rs55764050||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA|6/7||ENST00000701768.1:n.843G>A||843|||||rs55764050||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA|6/6||ENST00000702098.1:n.751G>A||751|||||rs55764050||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA|5/5||ENST00000702273.1:n.617G>A||617|||||rs55764050||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA|5/5||ENST00000702557.1:n.645G>A||645|||||rs55764050||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA|6/6||ENST00000702847.1:n.800G>A||800|||||rs55764050||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.6049|0.189|0.6071|0.6379|0.7945|0.6372|0.7157|0.25|0.7955|0.6364|0.8103|0.8103|gnomADg_SAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,2:0.75:2:0,0:0,1:0,2:0|1:853565_G_C:853565:0,0,1,1 -chr1 855801 . A G . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=4%2C10|1%2C1;DP=20;ECNT=1;GERMQ=57;MBQ=32,33;MFRL=0,0;MMQ=32,24;MPOS=104;POPAF=7.3;TLOD=3.54;SRC=snv;GRP=s001;CSQ=G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA|||||||||||1705|1||SNV|HGNC|HGNC:49377||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000425657|retained_intron|||||||||||3049|1||SNV|HGNC|HGNC:49377||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA|5/5||ENST00000445118.7:n.2971A>G||2971|||||||1||SNV|HGNC|HGNC:49377|YES|||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA|||||||||||3787|1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA|||||||||||1414|1||SNV|HGNC|HGNC:49377||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA|||||||||||1698|1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA|||||||||||1416|1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA|||||||||||1700|1||SNV|HGNC|HGNC:49377||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000610067|lncRNA|||||||||||4676|1||SNV|HGNC|HGNC:49377||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA|||||||||||3286|1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA|||||||||||1400|1||SNV|HGNC|HGNC:49377||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA|||||||||||1405|1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA|||||||||||1416|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA||5/5|ENST00000657837.1:n.2136-648A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA|||||||||||1390|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA||6/6|ENST00000659124.2:n.2450-648A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA|||||||||||1378|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000288531|Transcript|ENST00000661463|lncRNA|||||||||||4426|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA||7/7|ENST00000666741.2:n.2527-648A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA||7/7|ENST00000670780.1:n.5753-648A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000288531|Transcript|ENST00000671208|lncRNA|||||||||||4425|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA|||||||||||1416|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA|||||||||||1405|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA||5/5|ENST00000685764.2:n.2247-648A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA|||||||||||1407|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA|||||||||||1403|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA||5/5|ENST00000688309.1:n.2297-648A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688420|lncRNA|||||||||||1705|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA||6/6|ENST00000691234.2:n.2358-648A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA||6/6|ENST00000691316.1:n.2351-648A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA|||||||||||1390|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA|||||||||||1705|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA||6/6|ENST00000701768.1:n.2408-648A>G|||||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA|||||||||||1379|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA|||||||||||1414|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA|||||||||||1414|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA|||||||||||1378|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344408|open_chromatin_region||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:14,2:0.141:16:4,0:4,1:11,1:4,10,1,1 -chr1 856029 . T C . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=9%2C5|1%2C1;DP=16;ECNT=1;GERMQ=57;MBQ=32,31;MFRL=0,0;MMQ=22,22;MPOS=130;POPAF=7.3;TLOD=3.31;SRC=snv;GRP=s001;CSQ=C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA||||||||||rs1311193373|1933|1||SNV|HGNC|HGNC:49377||||3|||||||||||||||||||||||||||||1.315e-05|0|0|0|0|0|0|0|2.941e-05|0|0|2.941e-05|gnomADg_NFE|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000425657|retained_intron||||||||||rs1311193373|3277|1||SNV|HGNC|HGNC:49377||||3|||||||||||||||||||||||||||||1.315e-05|0|0|0|0|0|0|0|2.941e-05|0|0|2.941e-05|gnomADg_NFE|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA|5/5||ENST00000445118.7:n.3199T>C||3199|||||rs1311193373||1||SNV|HGNC|HGNC:49377|YES|||1|||||||||||||||||||||||||||||1.315e-05|0|0|0|0|0|0|0|2.941e-05|0|0|2.941e-05|gnomADg_NFE|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA||||||||||rs1311193373|4015|1||SNV|HGNC|HGNC:49377||||5|||||||||||||||||||||||||||||1.315e-05|0|0|0|0|0|0|0|2.941e-05|0|0|2.941e-05|gnomADg_NFE|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA||||||||||rs1311193373|1642|1||SNV|HGNC|HGNC:49377||||1|||||||||||||||||||||||||||||1.315e-05|0|0|0|0|0|0|0|2.941e-05|0|0|2.941e-05|gnomADg_NFE|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA||||||||||rs1311193373|1926|1||SNV|HGNC|HGNC:49377||||5|||||||||||||||||||||||||||||1.315e-05|0|0|0|0|0|0|0|2.941e-05|0|0|2.941e-05|gnomADg_NFE|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA||||||||||rs1311193373|1644|1||SNV|HGNC|HGNC:49377||||5|||||||||||||||||||||||||||||1.315e-05|0|0|0|0|0|0|0|2.941e-05|0|0|2.941e-05|gnomADg_NFE|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA||||||||||rs1311193373|1928|1||SNV|HGNC|HGNC:49377||||3|||||||||||||||||||||||||||||1.315e-05|0|0|0|0|0|0|0|2.941e-05|0|0|2.941e-05|gnomADg_NFE|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000610067|lncRNA||||||||||rs1311193373|4904|1||SNV|HGNC|HGNC:49377||||4|||||||||||||||||||||||||||||1.315e-05|0|0|0|0|0|0|0|2.941e-05|0|0|2.941e-05|gnomADg_NFE|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA||||||||||rs1311193373|3514|1||SNV|HGNC|HGNC:49377||||5|||||||||||||||||||||||||||||1.315e-05|0|0|0|0|0|0|0|2.941e-05|0|0|2.941e-05|gnomADg_NFE|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA||||||||||rs1311193373|1628|1||SNV|HGNC|HGNC:49377||||4|||||||||||||||||||||||||||||1.315e-05|0|0|0|0|0|0|0|2.941e-05|0|0|2.941e-05|gnomADg_NFE|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA||||||||||rs1311193373|1633|1||SNV|HGNC|HGNC:49377||||5|||||||||||||||||||||||||||||1.315e-05|0|0|0|0|0|0|0|2.941e-05|0|0|2.941e-05|gnomADg_NFE|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA||||||||||rs1311193373|1644|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||1.315e-05|0|0|0|0|0|0|0|2.941e-05|0|0|2.941e-05|gnomADg_NFE|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA||5/5|ENST00000657837.1:n.2136-420T>C|||||||rs1311193373||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||1.315e-05|0|0|0|0|0|0|0|2.941e-05|0|0|2.941e-05|gnomADg_NFE|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA||||||||||rs1311193373|1618|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||1.315e-05|0|0|0|0|0|0|0|2.941e-05|0|0|2.941e-05|gnomADg_NFE|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA||6/6|ENST00000659124.2:n.2450-420T>C|||||||rs1311193373||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||1.315e-05|0|0|0|0|0|0|0|2.941e-05|0|0|2.941e-05|gnomADg_NFE|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA||||||||||rs1311193373|1606|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||1.315e-05|0|0|0|0|0|0|0|2.941e-05|0|0|2.941e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000288531|Transcript|ENST00000661463|lncRNA||||||||||rs1311193373|4198|1||SNV|||YES||||||||||||||||||||||||||||||||1.315e-05|0|0|0|0|0|0|0|2.941e-05|0|0|2.941e-05|gnomADg_NFE|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA||7/7|ENST00000666741.2:n.2527-420T>C|||||||rs1311193373||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||1.315e-05|0|0|0|0|0|0|0|2.941e-05|0|0|2.941e-05|gnomADg_NFE|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA||7/7|ENST00000670780.1:n.5753-420T>C|||||||rs1311193373||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||1.315e-05|0|0|0|0|0|0|0|2.941e-05|0|0|2.941e-05|gnomADg_NFE|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000288531|Transcript|ENST00000671208|lncRNA||||||||||rs1311193373|4197|1||SNV|||||||||||||||||||||||||||||||||||1.315e-05|0|0|0|0|0|0|0|2.941e-05|0|0|2.941e-05|gnomADg_NFE|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||||||||||rs1311193373|1644|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||1.315e-05|0|0|0|0|0|0|0|2.941e-05|0|0|2.941e-05|gnomADg_NFE|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA||||||||||rs1311193373|1633|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||1.315e-05|0|0|0|0|0|0|0|2.941e-05|0|0|2.941e-05|gnomADg_NFE|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA||5/5|ENST00000685764.2:n.2247-420T>C|||||||rs1311193373||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||1.315e-05|0|0|0|0|0|0|0|2.941e-05|0|0|2.941e-05|gnomADg_NFE|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA||||||||||rs1311193373|1635|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||1.315e-05|0|0|0|0|0|0|0|2.941e-05|0|0|2.941e-05|gnomADg_NFE|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA||||||||||rs1311193373|1631|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||1.315e-05|0|0|0|0|0|0|0|2.941e-05|0|0|2.941e-05|gnomADg_NFE|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA||5/5|ENST00000688309.1:n.2297-420T>C|||||||rs1311193373||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||1.315e-05|0|0|0|0|0|0|0|2.941e-05|0|0|2.941e-05|gnomADg_NFE|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688420|lncRNA||||||||||rs1311193373|1933|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||1.315e-05|0|0|0|0|0|0|0|2.941e-05|0|0|2.941e-05|gnomADg_NFE|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA||6/6|ENST00000691234.2:n.2358-420T>C|||||||rs1311193373||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||1.315e-05|0|0|0|0|0|0|0|2.941e-05|0|0|2.941e-05|gnomADg_NFE|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA||6/6|ENST00000691316.1:n.2351-420T>C|||||||rs1311193373||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||1.315e-05|0|0|0|0|0|0|0|2.941e-05|0|0|2.941e-05|gnomADg_NFE|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA||||||||||rs1311193373|1618|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||1.315e-05|0|0|0|0|0|0|0|2.941e-05|0|0|2.941e-05|gnomADg_NFE|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA||||||||||rs1311193373|1933|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||1.315e-05|0|0|0|0|0|0|0|2.941e-05|0|0|2.941e-05|gnomADg_NFE|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA||6/6|ENST00000701768.1:n.2408-420T>C|||||||rs1311193373||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||1.315e-05|0|0|0|0|0|0|0|2.941e-05|0|0|2.941e-05|gnomADg_NFE|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA||||||||||rs1311193373|1607|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||1.315e-05|0|0|0|0|0|0|0|2.941e-05|0|0|2.941e-05|gnomADg_NFE|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA||||||||||rs1311193373|1642|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||1.315e-05|0|0|0|0|0|0|0|2.941e-05|0|0|2.941e-05|gnomADg_NFE|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA||||||||||rs1311193373|1642|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||1.315e-05|0|0|0|0|0|0|0|2.941e-05|0|0|2.941e-05|gnomADg_NFE|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA||||||||||rs1311193373|1606|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||1.315e-05|0|0|0|0|0|0|0|2.941e-05|0|0|2.941e-05|gnomADg_NFE||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:14,2:0.167:16:0,0:9,1:9,1:9,5,1,1 -chr1 856666 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=19%2C15|1%2C1;DP=36;ECNT=3;GERMQ=93;MBQ=33,33;MFRL=0,0;MMQ=40,48;MPOS=26;POPAF=7.3;TLOD=4.89;SRC=snv;GRP=s001;CSQ=G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA|||||||||||2570|1||SNV|HGNC|HGNC:49377||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000425657|retained_intron|||||||||||3914|1||SNV|HGNC|HGNC:49377||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA|5/5||ENST00000445118.7:n.3836A>G||3836|||||||1||SNV|HGNC|HGNC:49377|YES|||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA|||||||||||4652|1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA|||||||||||2279|1||SNV|HGNC|HGNC:49377||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA|||||||||||2563|1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA|||||||||||2281|1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA|||||||||||2565|1||SNV|HGNC|HGNC:49377||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA|||||||||||4151|1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA|||||||||||2265|1||SNV|HGNC|HGNC:49377||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA|||||||||||2270|1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA|||||||||||2281|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA|6/6||ENST00000657837.1:n.2353A>G||2353|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA|||||||||||2255|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA|7/7||ENST00000659124.2:n.2667A>G||2667|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA|||||||||||2243|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000288531|Transcript|ENST00000661463|lncRNA|||||||||||3561|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA|8/8||ENST00000666741.2:n.2744A>G||2744|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA|8/8||ENST00000670780.1:n.5970A>G||5970|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000288531|Transcript|ENST00000671208|lncRNA|||||||||||3560|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA|||||||||||2281|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA|||||||||||2270|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA|6/6||ENST00000685764.2:n.2464A>G||2464|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA|||||||||||2272|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA|||||||||||2268|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA|6/6||ENST00000688309.1:n.2514A>G||2514|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688420|lncRNA|||||||||||2570|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA|7/7||ENST00000691234.2:n.2575A>G||2575|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA|7/7||ENST00000691316.1:n.2568A>G||2568|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA|||||||||||2255|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA|||||||||||2570|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA|7/7||ENST00000701768.1:n.2625A>G||2625|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA|||||||||||2244|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA|||||||||||2279|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA|||||||||||2279|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA|||||||||||2243|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:34,2:0.087:36:0,0:18,1:20,1:19,15,1,1 -chr1 856691 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=20%2C15|1%2C1;DP=37;ECNT=3;GERMQ=93;MBQ=33,33;MFRL=0,0;MMQ=43,52;MPOS=79;POPAF=7.3;TLOD=4.81;SRC=snv;GRP=s001;CSQ=T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA|||||||||||2595|1||SNV|HGNC|HGNC:49377||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000425657|retained_intron|||||||||||3939|1||SNV|HGNC|HGNC:49377||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA|5/5||ENST00000445118.7:n.3861C>T||3861|||||||1||SNV|HGNC|HGNC:49377|YES|||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA|||||||||||4677|1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA|||||||||||2304|1||SNV|HGNC|HGNC:49377||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA|||||||||||2588|1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA|||||||||||2306|1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA|||||||||||2590|1||SNV|HGNC|HGNC:49377||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA|||||||||||4176|1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA|||||||||||2290|1||SNV|HGNC|HGNC:49377||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA|||||||||||2295|1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA|||||||||||2306|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA|6/6||ENST00000657837.1:n.2378C>T||2378|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA|||||||||||2280|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA|7/7||ENST00000659124.2:n.2692C>T||2692|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA|||||||||||2268|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000288531|Transcript|ENST00000661463|lncRNA|||||||||||3536|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA|8/8||ENST00000666741.2:n.2769C>T||2769|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA|8/8||ENST00000670780.1:n.5995C>T||5995|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000288531|Transcript|ENST00000671208|lncRNA|||||||||||3535|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA|||||||||||2306|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA|||||||||||2295|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA|6/6||ENST00000685764.2:n.2489C>T||2489|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA|||||||||||2297|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA|||||||||||2293|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA|6/6||ENST00000688309.1:n.2539C>T||2539|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688420|lncRNA|||||||||||2595|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA|7/7||ENST00000691234.2:n.2600C>T||2600|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA|7/7||ENST00000691316.1:n.2593C>T||2593|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA|||||||||||2280|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA|||||||||||2595|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA|7/7||ENST00000701768.1:n.2650C>T||2650|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA|||||||||||2269|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA|||||||||||2304|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA|||||||||||2304|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA|||||||||||2268|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:35,2:0.08:37:0,0:20,1:22,1:20,15,1,1 -chr1 856716 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=18%2C13|1%2C1;DP=34;ECNT=3;GERMQ=93;MBQ=33,34;MFRL=0,0;MMQ=46,54;MPOS=89;POPAF=7.3;TLOD=5.01;SRC=snv;GRP=s001;CSQ=C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA|||||||||||2620|1||SNV|HGNC|HGNC:49377||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000425657|retained_intron|||||||||||3964|1||SNV|HGNC|HGNC:49377||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA|5/5||ENST00000445118.7:n.3886T>C||3886|||||||1||SNV|HGNC|HGNC:49377|YES|||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA|||||||||||4702|1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA|||||||||||2329|1||SNV|HGNC|HGNC:49377||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA|||||||||||2613|1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA|||||||||||2331|1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA|||||||||||2615|1||SNV|HGNC|HGNC:49377||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA|||||||||||4201|1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA|||||||||||2315|1||SNV|HGNC|HGNC:49377||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA|||||||||||2320|1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA|||||||||||2331|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA|6/6||ENST00000657837.1:n.2403T>C||2403|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA|||||||||||2305|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA|7/7||ENST00000659124.2:n.2717T>C||2717|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA|||||||||||2293|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000288531|Transcript|ENST00000661463|lncRNA|||||||||||3511|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA|8/8||ENST00000666741.2:n.2794T>C||2794|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA|8/8||ENST00000670780.1:n.6020T>C||6020|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000288531|Transcript|ENST00000671208|lncRNA|||||||||||3510|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA|||||||||||2331|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA|||||||||||2320|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA|6/6||ENST00000685764.2:n.2514T>C||2514|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA|||||||||||2322|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA|||||||||||2318|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA|6/6||ENST00000688309.1:n.2564T>C||2564|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688420|lncRNA|||||||||||2620|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA|7/7||ENST00000691234.2:n.2625T>C||2625|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA|7/7||ENST00000691316.1:n.2618T>C||2618|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA|||||||||||2305|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA|||||||||||2620|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA|7/7||ENST00000701768.1:n.2675T>C||2675|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA|||||||||||2294|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA|||||||||||2329|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA|||||||||||2329|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA|||||||||||2293|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:31,2:0.08:33:0,0:18,1:22,1:18,13,1,1 -chr1 856883 . A G . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|4%2C5;DP=11;ECNT=1;GERMQ=66;MBQ=0,35;MFRL=0,0;MMQ=60,21;MPOS=102;POPAF=7.3;TLOD=22.37;SRC=snv;GRP=s001;CSQ=G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA||||||||||rs1044922|2787|1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000425657|retained_intron||||||||||rs1044922|4131|1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA|5/5||ENST00000445118.7:n.4053A>G||4053|||||rs1044922||1||SNV|HGNC|HGNC:49377|YES|||1||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000448975|lncRNA||||||||||rs1044922|4869|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA||||||||||rs1044922|2496|1||SNV|HGNC|HGNC:49377||||1||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA||||||||||rs1044922|2780|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA||||||||||rs1044922|2498|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA||||||||||rs1044922|2782|1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA||||||||||rs1044922|4368|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA||||||||||rs1044922|2482|1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA||||||||||rs1044922|2487|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA||||||||||rs1044922|2498|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA|6/6||ENST00000657837.1:n.2570A>G||2570|||||rs1044922||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA||||||||||rs1044922|2472|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA|7/7||ENST00000659124.2:n.2884A>G||2884|||||rs1044922||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA||||||||||rs1044922|2460|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000288531|Transcript|ENST00000661463|lncRNA||||||||||rs1044922|3344|1||SNV|||YES|||||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA|8/8||ENST00000666741.2:n.2961A>G||2961|||||rs1044922||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA|8/8||ENST00000670780.1:n.6187A>G||6187|||||rs1044922||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000288531|Transcript|ENST00000671208|lncRNA||||||||||rs1044922|3343|1||SNV||||||||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||||||||||rs1044922|2498|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA||||||||||rs1044922|2487|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA|6/6||ENST00000685764.2:n.2681A>G||2681|||||rs1044922||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA||||||||||rs1044922|2489|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA||||||||||rs1044922|2485|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA|6/6||ENST00000688309.1:n.2731A>G||2731|||||rs1044922||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688420|lncRNA||||||||||rs1044922|2787|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA|7/7||ENST00000691234.2:n.2792A>G||2792|||||rs1044922||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA|7/7||ENST00000691316.1:n.2785A>G||2785|||||rs1044922||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA||||||||||rs1044922|2472|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA||||||||||rs1044922|2787|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA|7/7||ENST00000701768.1:n.2842A>G||2842|||||rs1044922||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA||||||||||rs1044922|2461|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA||||||||||rs1044922|2496|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA||||||||||rs1044922|2496|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA||||||||||rs1044922|2460|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.7859|0.4531|0.8703|0.8373|0.9722|0.9315||||||||||0.8322|0.5311|0.8918|0.8641|0.888|0.8263|0.9941|0.8576|0.9697|0.8512|0.93|0.9941|gnomADg_FIN||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,9:0.906:9:0,4:0,4:0,8:0,0,4,5 -chr1 857100 . C T . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|9%2C7;DP=16;ECNT=1;GERMQ=87;MBQ=0,32;MFRL=0,0;MMQ=60,21;MPOS=69;POPAF=7.3;TLOD=40.02;SRC=snv;GRP=s001;CSQ=T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA||||||||||rs2905036|3004|1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000425657|retained_intron||||||||||rs2905036|4348|1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA|5/5||ENST00000445118.7:n.4270C>T||4270|||||rs2905036||1||SNV|HGNC|HGNC:49377|YES|||1||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA||||||||||rs2905036|2713|1||SNV|HGNC|HGNC:49377||||1||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA||||||||||rs2905036|2997|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA||||||||||rs2905036|2715|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA||||||||||rs2905036|2999|1||SNV|HGNC|HGNC:49377||||3||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA||||||||||rs2905036|4585|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA||||||||||rs2905036|2699|1||SNV|HGNC|HGNC:49377||||4||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA||||||||||rs2905036|2704|1||SNV|HGNC|HGNC:49377||||5||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA||||||||||rs2905036|2715|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA|6/6||ENST00000657837.1:n.2787C>T||2787|||||rs2905036||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA||||||||||rs2905036|2689|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA|7/7||ENST00000659124.2:n.3101C>T||3101|||||rs2905036||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA||||||||||rs2905036|2677|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000288531|Transcript|ENST00000661463|lncRNA||||||||||rs2905036|3127|1||SNV|||YES|||||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA|8/8||ENST00000666741.2:n.3178C>T||3178|||||rs2905036||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA|8/8||ENST00000670780.1:n.6404C>T||6404|||||rs2905036||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000288531|Transcript|ENST00000671208|lncRNA||||||||||rs2905036|3126|1||SNV||||||||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||||||||||rs2905036|2715|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA||||||||||rs2905036|2704|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA|6/6||ENST00000685764.2:n.2898C>T||2898|||||rs2905036||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA||||||||||rs2905036|2706|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA||||||||||rs2905036|2702|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA|6/6||ENST00000688309.1:n.2948C>T||2948|||||rs2905036||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688420|lncRNA||||||||||rs2905036|3004|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA|7/7||ENST00000691234.2:n.3009C>T||3009|||||rs2905036||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA|7/7||ENST00000691316.1:n.3002C>T||3002|||||rs2905036||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA||||||||||rs2905036|2689|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA||||||||||rs2905036|3004|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA|7/7||ENST00000701768.1:n.3059C>T||3059|||||rs2905036||1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA||||||||||rs2905036|2678|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA||||||||||rs2905036|2713|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA||||||||||rs2905036|2713|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA||||||||||rs2905036|2677|1||SNV|HGNC|HGNC:49377||||||||||||||||||0.9768|0.9213|0.9899|1|0.995|1||||||||||0.975|0.9168|1|0.988|0.9977|1|1|0.9842|0.9983|0.9804|0.9998|1|EAS&SAS&gnomADg_AMI&gnomADg_EAS&gnomADg_FIN||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,16:0.917:16:0,1:0,8:0,10:0,0,9,7 -chr1 857234 . T C . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=7%2C10|1%2C1;DP=19;ECNT=1;GERMQ=64;MBQ=33,34;MFRL=0,0;MMQ=24,23;MPOS=40;POPAF=7.3;TLOD=3.43;SRC=snv;GRP=s001;CSQ=C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000416570|lncRNA|||||||||||3138|1||SNV|HGNC|HGNC:49377||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000425657|retained_intron|||||||||||4482|1||SNV|HGNC|HGNC:49377||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA|5/5||ENST00000445118.7:n.4404T>C||4404|||||||1||SNV|HGNC|HGNC:49377|YES|||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA|||||||||||2847|1||SNV|HGNC|HGNC:49377||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000608189|lncRNA|||||||||||3131|1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA|||||||||||2849|1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609139|lncRNA|||||||||||3133|1||SNV|HGNC|HGNC:49377||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000622921|lncRNA|||||||||||4719|1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA|||||||||||2833|1||SNV|HGNC|HGNC:49377||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA|||||||||||2838|1||SNV|HGNC|HGNC:49377||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA|||||||||||2849|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA|6/6||ENST00000657837.1:n.2921T>C||2921|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA|||||||||||2823|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA|7/7||ENST00000659124.2:n.3235T>C||3235|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA|||||||||||2811|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000288531|Transcript|ENST00000661463|lncRNA|||||||||||2993|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA|8/8||ENST00000666741.2:n.3312T>C||3312|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA|8/8||ENST00000670780.1:n.6538T>C||6538|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000288531|Transcript|ENST00000671208|lncRNA|||||||||||2992|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA|||||||||||2849|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA|||||||||||2838|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA|6/6||ENST00000685764.2:n.3032T>C||3032|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA|||||||||||2840|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA|||||||||||2836|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA|6/6||ENST00000688309.1:n.3082T>C||3082|||||||1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688420|lncRNA|||||||||||3138|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA|||||||||||46|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA|||||||||||44|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA|||||||||||2823|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701598|lncRNA|||||||||||3138|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA|||||||||||96|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA|||||||||||2812|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA|||||||||||2847|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA|||||||||||2847|1||SNV|HGNC|HGNC:49377||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA|||||||||||2811|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:17,2:0.154:19:3,0:7,1:10,1:7,10,1,1 -chr1 859348 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C2|1%2C1;DP=5;ECNT=1;GERMQ=38;MBQ=33,24;MFRL=0,0;MMQ=43,36;MPOS=113;POPAF=7.3;TLOD=3.75;SRC=snv;GRP=s001;CSQ=C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000445118|lncRNA|5/5||ENST00000445118.7:n.6518T>C||6518|||||rs1248696762||1||SNV|HGNC|HGNC:49377|YES|||1|||||||||||||||||||||||||||||0.0001117|0|0|0.001112|0|0|0|0|0|0|0|0.001112|gnomADg_AMR|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000449005|lncRNA||||||||||rs1248696762|4961|1||SNV|HGNC|HGNC:49377||||1|||||||||||||||||||||||||||||0.0001117|0|0|0.001112|0|0|0|0|0|0|0|0.001112|gnomADg_AMR|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000609009|lncRNA||||||||||rs1248696762|4963|1||SNV|HGNC|HGNC:49377||||5|||||||||||||||||||||||||||||0.0001117|0|0|0.001112|0|0|0|0|0|0|0|0.001112|gnomADg_AMR|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623070|lncRNA||||||||||rs1248696762|4947|1||SNV|HGNC|HGNC:49377||||4|||||||||||||||||||||||||||||0.0001117|0|0|0.001112|0|0|0|0|0|0|0|0.001112|gnomADg_AMR|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000623808|lncRNA||||||||||rs1248696762|4952|1||SNV|HGNC|HGNC:49377||||5|||||||||||||||||||||||||||||0.0001117|0|0|0.001112|0|0|0|0|0|0|0|0.001112|gnomADg_AMR|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657175|lncRNA||||||||||rs1248696762|4963|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.0001117|0|0|0.001112|0|0|0|0|0|0|0|0.001112|gnomADg_AMR|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000657837|lncRNA||||||||||rs1248696762|2102|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.0001117|0|0|0.001112|0|0|0|0|0|0|0|0.001112|gnomADg_AMR|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000658846|lncRNA||||||||||rs1248696762|4937|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.0001117|0|0|0.001112|0|0|0|0|0|0|0|0.001112|gnomADg_AMR|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000659124|lncRNA||||||||||rs1248696762|16|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.0001117|0|0|0.001112|0|0|0|0|0|0|0|0.001112|gnomADg_AMR|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000661237|lncRNA||||||||||rs1248696762|4925|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.0001117|0|0|0.001112|0|0|0|0|0|0|0|0.001112|gnomADg_AMR|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000288531|Transcript|ENST00000661463|lncRNA||||||||||rs1248696762|879|1||SNV|||YES||||||||||||||||||||||||||||||||0.0001117|0|0|0.001112|0|0|0|0|0|0|0|0.001112|gnomADg_AMR|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000666741|lncRNA|8/8||ENST00000666741.2:n.5426T>C||5426|||||rs1248696762||1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.0001117|0|0|0.001112|0|0|0|0|0|0|0|0.001112|gnomADg_AMR|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000670780|lncRNA||||||||||rs1248696762|263|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.0001117|0|0|0.001112|0|0|0|0|0|0|0|0.001112|gnomADg_AMR|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000288531|Transcript|ENST00000671208|lncRNA||||||||||rs1248696762|878|1||SNV|||||||||||||||||||||||||||||||||||0.0001117|0|0|0.001112|0|0|0|0|0|0|0|0.001112|gnomADg_AMR|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685334|lncRNA||||||||||rs1248696762|4963|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.0001117|0|0|0.001112|0|0|0|0|0|0|0|0.001112|gnomADg_AMR|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685566|lncRNA||||||||||rs1248696762|4952|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.0001117|0|0|0.001112|0|0|0|0|0|0|0|0.001112|gnomADg_AMR|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000685764|lncRNA||||||||||rs1248696762|1443|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.0001117|0|0|0.001112|0|0|0|0|0|0|0|0.001112|gnomADg_AMR|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000686238|lncRNA||||||||||rs1248696762|4954|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.0001117|0|0|0.001112|0|0|0|0|0|0|0|0.001112|gnomADg_AMR|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688008|lncRNA||||||||||rs1248696762|4950|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.0001117|0|0|0.001112|0|0|0|0|0|0|0|0.001112|gnomADg_AMR|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000688309|lncRNA||||||||||rs1248696762|2102|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.0001117|0|0|0.001112|0|0|0|0|0|0|0|0.001112|gnomADg_AMR|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691234|lncRNA||||||||||rs1248696762|2160|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.0001117|0|0|0.001112|0|0|0|0|0|0|0|0.001112|gnomADg_AMR|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000691316|lncRNA||||||||||rs1248696762|2158|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.0001117|0|0|0.001112|0|0|0|0|0|0|0|0.001112|gnomADg_AMR|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000692194|lncRNA||||||||||rs1248696762|4937|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.0001117|0|0|0.001112|0|0|0|0|0|0|0|0.001112|gnomADg_AMR|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000701768|lncRNA||||||||||rs1248696762|2210|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.0001117|0|0|0.001112|0|0|0|0|0|0|0|0.001112|gnomADg_AMR|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702098|lncRNA||||||||||rs1248696762|4926|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.0001117|0|0|0.001112|0|0|0|0|0|0|0|0.001112|gnomADg_AMR|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702273|lncRNA||||||||||rs1248696762|4961|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.0001117|0|0|0.001112|0|0|0|0|0|0|0|0.001112|gnomADg_AMR|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702557|lncRNA||||||||||rs1248696762|4961|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.0001117|0|0|0.001112|0|0|0|0|0|0|0|0.001112|gnomADg_AMR|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01128|ENSG00000228794|Transcript|ENST00000702847|lncRNA||||||||||rs1248696762|4925|1||SNV|HGNC|HGNC:49377|||||||||||||||||||||||||||||||||0.0001117|0|0|0.001112|0|0|0|0|0|0|0|0.001112|gnomADg_AMR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,2:0.4:5:1,0:1,0:2,1:1,2,1,1 -chr1 897018 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,35;MFRL=0,0;MMQ=60,45;MPOS=106;POPAF=7.3;TLOD=7.05;SRC=snv;GRP=s001;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs4553118||||SNV||||||||||||||||||||0.8191|0.9327|0.755|0.8571|0.7306|0.7628||||||||||0.7832|0.909|0.6524|0.7547|0.7261|0.8765|0.6447|0.8101|0.7315|0.7884|0.7831|0.9327|AFR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 901763 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C1;DP=4;ECNT=1;GERMQ=37;MBQ=34,34;MFRL=0,0;MMQ=60,60;MPOS=43;POPAF=7.3;TLOD=6.88;SRC=snv;GRP=s001;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||||||||||rs1640317824|3071|1||SNV|||YES|||4|||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.5:4:0,0:1,1:1,1:1,1,1,1 -chr1 902641 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=73;POPAF=7.3;TLOD=7.02;SRC=snv;GRP=s001;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||||||||||rs1640332690|2193|1||SNV|||YES|||4|||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 903007 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=2;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=51;POPAF=7.3;TLOD=7.45;SRC=snv;GRP=s001;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||||||||||rs4970384|1827|1||SNV|||YES|||4||||||||||||||0.2081|0.2269|0.2133|0.1518|0.2087|0.2362||||||||||0.2121|0.215|0.2675|0.2069|0.2677|0.1357|0.2515|0.2247|0.2071|0.21|0.2177|0.2677|gnomADg_ASJ||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 904947 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C2|2%2C2;DP=9;ECNT=1;GERMQ=37;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=116;POPAF=7.3;TLOD=13.03;SRC=snv;GRP=s001;CSQ=A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA|1/2||ENST00000607769.1:n.114G>A||114|||||rs28625089||1||SNV|||YES|||4||||||||||||||0.1591|0.0477|0.2061|0.1508|0.2087|0.2342||||||||||0.1637|0.05947|0.2693|0.1897|0.2601|0.1296|0.2269|0.1911|0.2043|0.1709|0.2085|0.2693|gnomADg_AMI|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344419|CTCF_binding_site||||||||||rs28625089||||SNV||||||||||||||||||||0.1591|0.0477|0.2061|0.1508|0.2087|0.2342||||||||||0.1637|0.05947|0.2693|0.1897|0.2601|0.1296|0.2269|0.1911|0.2043|0.1709|0.2085|0.2693|gnomADg_AMI|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918364|promoter||||||||||rs28625089||||SNV||||||||||||||||||||0.1591|0.0477|0.2061|0.1508|0.2087|0.2342||||||||||0.1637|0.05947|0.2693|0.1897|0.2601|0.1296|0.2269|0.1911|0.2043|0.1709|0.2085|0.2693|gnomADg_AMI|||||||||||||,A|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00000340071|||||||||||rs28625089||1||SNV||||||||||||||||||||0.1591|0.0477|0.2061|0.1508|0.2087|0.2342||||||||||0.1637|0.05947|0.2693|0.1897|0.2601|0.1296|0.2269|0.1911|0.2043|0.1709|0.2085|0.2693|gnomADg_AMI|||||ENSPFM0238|1|N|-0.006|GCM1::MAX||||,A|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00000344552|||||||||||rs28625089||1||SNV||||||||||||||||||||0.1591|0.0477|0.2061|0.1508|0.2087|0.2342||||||||||0.1637|0.05947|0.2693|0.1897|0.2601|0.1296|0.2269|0.1911|0.2043|0.1709|0.2085|0.2693|gnomADg_AMI|||||ENSPFM0595|3|N|-0.033|TFAP2C::MAX||||,A|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00522325566|||||||||||rs28625089||1||SNV||||||||||||||||||||0.1591|0.0477|0.2061|0.1508|0.2087|0.2342||||||||||0.1637|0.05947|0.2693|0.1897|0.2601|0.1296|0.2269|0.1911|0.2043|0.1709|0.2085|0.2693|gnomADg_AMI|||||ENSPFM0596|4|N|-0.033|TFAP2C::MAX||||,A|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00525811883|||||||||||rs28625089||-1||SNV||||||||||||||||||||0.1591|0.0477|0.2061|0.1508|0.2087|0.2342||||||||||0.1637|0.05947|0.2693|0.1897|0.2601|0.1296|0.2269|0.1911|0.2043|0.1709|0.2085|0.2693|gnomADg_AMI|||||ENSPFM0130|1|N|-0.027|ESRRA&ESRRG|||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:5,4:0.429:9:0,0:3,2:3,2:3,2,2,2 -chr1 905705 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C4|2%2C3;DP=13;ECNT=1;GERMQ=37;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=89;POPAF=7.3;TLOD=16.64;SRC=snv;GRP=s001;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.124+748C>G|||||||rs1574243||1||SNV|||YES|||4||||||||||||||0.3363|0.3585|0.2695|0.4266|0.2276|0.3722||||||||||0.2818|0.3488|0.261|0.251|0.2656|0.4164|0.2976|0.2373|0.2325|0.2596|0.3475|0.4266|EAS||||29071737|||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918364|promoter||||||||||rs1574243||||SNV||||||||||||||||||||0.3363|0.3585|0.2695|0.4266|0.2276|0.3722||||||||||0.2818|0.3488|0.261|0.251|0.2656|0.4164|0.2976|0.2373|0.2325|0.2596|0.3475|0.4266|EAS||||29071737||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,5:0.444:12:1,0:3,2:4,3:3,4,2,3 -chr1 906535 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=11%2C11|1%2C1;DP=24;ECNT=2;GERMQ=76;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=125;POPAF=7.3;TLOD=5.14;SRC=snv;GRP=s001;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA|||||||||||4900|1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.124+1578T>C|||||||||1||SNV|||YES|||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344418|promoter||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:22,2:0.126:24:1,0:10,1:13,1:11,11,1,1 -chr1 906633 . T G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C3|2%2C2;DP=12;ECNT=2;GERMQ=37;MBQ=31,34;MFRL=0,0;MMQ=60,60;MPOS=78;POPAF=7.3;TLOD=12.47;SRC=snv;GRP=s001;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs7419119|4802|1||SNV|||YES|||2||||||||||||||0.1855|0.1407|0.2219|0.1488|0.2117|0.2311||||||||||0.1911|0.1387|0.2675|0.2032|0.2623|0.133|0.2459|0.2184|0.2089|0.1992|0.2139|0.2675|gnomADg_AMI||||36586123|||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.124+1676T>G|||||||rs7419119||1||SNV|||YES|||4||||||||||||||0.1855|0.1407|0.2219|0.1488|0.2117|0.2311||||||||||0.1911|0.1387|0.2675|0.2032|0.2623|0.133|0.2459|0.2184|0.2089|0.1992|0.2139|0.2675|gnomADg_AMI||||36586123|||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344418|promoter||||||||||rs7419119||||SNV||||||||||||||||||||0.1855|0.1407|0.2219|0.1488|0.2117|0.2311||||||||||0.1911|0.1387|0.2675|0.2032|0.2623|0.133|0.2459|0.2184|0.2089|0.1992|0.2139|0.2675|gnomADg_AMI||||36586123|||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344420|CTCF_binding_site||||||||||rs7419119||||SNV||||||||||||||||||||0.1855|0.1407|0.2219|0.1488|0.2117|0.2311||||||||||0.1911|0.1387|0.2675|0.2032|0.2623|0.133|0.2459|0.2184|0.2089|0.1992|0.2139|0.2675|gnomADg_AMI||||36586123||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,4:0.427:10:0,0:3,2:3,2:3,3,2,2 -chr1 906982 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|8%2C8;DP=17;ECNT=2;GERMQ=87;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=40;POPAF=7.3;TLOD=64.21;SRC=snv;GRP=s001;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs28540380|4453|1||SNV|||YES|||2||||||||||||||0.2192|0.2443|0.2248|0.1508|0.2237|0.2474||||||||||0.2294|0.2471|0.2868|0.2153|0.2298|0.1335|0.2526|0.2197|0.2254|0.2172|0.2259|0.2868|gnomADg_AMI|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.124+2025C>T|||||||rs28540380||1||SNV|||YES|||4||||||||||||||0.2192|0.2443|0.2248|0.1508|0.2237|0.2474||||||||||0.2294|0.2471|0.2868|0.2153|0.2298|0.1335|0.2526|0.2197|0.2254|0.2172|0.2259|0.2868|gnomADg_AMI|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344418|promoter||||||||||rs28540380||||SNV||||||||||||||||||||0.2192|0.2443|0.2248|0.1508|0.2237|0.2474||||||||||0.2294|0.2471|0.2868|0.2153|0.2298|0.1335|0.2526|0.2197|0.2254|0.2172|0.2259|0.2868|gnomADg_AMI|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344420|CTCF_binding_site||||||||||rs28540380||||SNV||||||||||||||||||||0.2192|0.2443|0.2248|0.1508|0.2237|0.2474||||||||||0.2294|0.2471|0.2868|0.2153|0.2298|0.1335|0.2526|0.2197|0.2254|0.2172|0.2259|0.2868|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,16:0.909:16:0,0:0,8:0,9:0|1:906982_C_T:906982:0,0,8,8 -chr1 907022 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C4|5%2C4;DP=16;ECNT=2;GERMQ=35;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=89;POPAF=7.3;TLOD=29.02;SRC=snv;GRP=s001;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA|||||||||||4413|1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.124+2065C>A|||||||||1||SNV|||YES|||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344418|promoter||||||||||||||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM01051891671|||||||||||||1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||ENSPFM0086|6|Y|-0.079|EGR1&EGR2&EGR4&EGR3|||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:7,9:0.583:16:0,0:3,5:4,6:0|1:906982_C_T:906982:3,4,5,4 -chr1 907445 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=91;POPAF=7.3;TLOD=7.35;SRC=snv;GRP=s001;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs7519340|3990|1||SNV|||YES|||2||||||||||||||0.9720|0.8979|0.9928|1|1|1||||||||||0.9725|0.9035|1|0.9906|1|1|1|0.9905|0.9996|0.9807|1|1|EAS&EUR&SAS&gnomADg_AMI&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_SAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.124+2488A>G|||||||rs7519340||1||SNV|||YES|||4||||||||||||||0.9720|0.8979|0.9928|1|1|1||||||||||0.9725|0.9035|1|0.9906|1|1|1|0.9905|0.9996|0.9807|1|1|EAS&EUR&SAS&gnomADg_AMI&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_SAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 908025 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C2|3%2C2;DP=9;ECNT=1;GERMQ=36;MBQ=31,32;MFRL=0,0;MMQ=60,60;MPOS=64;POPAF=7.3;TLOD=16.71;SRC=snv;GRP=s001;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs11516185|3410|1||SNV|||YES|||2||||||||||||||0.3754|0.3517|0.3847|0.4206|0.3757|0.3538||||||||||0.3747|0.3434|0.3066|0.3993|0.2753|0.4474|0.4283|0.2468|0.3818|0.3587|0.3691|0.4474|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.124+3068A>G|||||||rs11516185||1||SNV|||YES|||4||||||||||||||0.3754|0.3517|0.3847|0.4206|0.3757|0.3538||||||||||0.3747|0.3434|0.3066|0.3993|0.2753|0.4474|0.4283|0.2468|0.3818|0.3587|0.3691|0.4474|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,5:0.571:9:0,0:2,3:2,3:2,2,3,2 -chr1 908285 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C5|1%2C1;DP=9;ECNT=1;GERMQ=43;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=24;POPAF=7.3;TLOD=5.7;SRC=snv;GRP=s001;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA|||||||||||3150|1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.124+3328A>G|||||||||1||SNV|||YES|||4|||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,2:0.25:9:2,0:2,1:5,1:2,5,1,1 -chr1 909894 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|2%2C2;DP=6;ECNT=2;GERMQ=36;MBQ=34,31;MFRL=0,0;MMQ=60,60;MPOS=83;POPAF=7.3;TLOD=13.23;SRC=snv;GRP=s001;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs112856858|4277|1||SNV|||YES|||3||||||||||||||0.3740|0.584|0.2911|0.3512|0.1948|0.3569||||||||||0.3094|0.5322|0.3639|0.2777|0.2118|0.3481|0.2075|0.2468|0.2016|0.2945|0.3286|0.584|AFR|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs112856858|1541|1||SNV|||YES|||2||||||||||||||0.3740|0.584|0.2911|0.3512|0.1948|0.3569||||||||||0.3094|0.5322|0.3639|0.2777|0.2118|0.3481|0.2075|0.2468|0.2016|0.2945|0.3286|0.584|AFR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.124+4937G>T|||||||rs112856858||1||SNV|||YES|||4||||||||||||||0.3740|0.584|0.2911|0.3512|0.1948|0.3569||||||||||0.3094|0.5322|0.3639|0.2777|0.2118|0.3481|0.2075|0.2468|0.2016|0.2945|0.3286|0.584|AFR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:2,4:0.6:6:0,0:1,2:1,2:0|1:909894_G_T:909894:1,1,2,2 -chr1 909903 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C3;DP=6;ECNT=2;GERMQ=58;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=88;POPAF=7.3;TLOD=24.95;SRC=snv;GRP=s001;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs7366404|4268|1||SNV|||YES|||3||||||||||||||0.7580|0.7753|0.7363|0.6181|0.8002|0.8507||||||||||0.7888|0.7816|0.8386|0.746|0.8258|0.6494|0.7532|0.7229|0.8125|0.7866|0.8413|0.8507|SAS|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs7366404|1532|1||SNV|||YES|||2||||||||||||||0.7580|0.7753|0.7363|0.6181|0.8002|0.8507||||||||||0.7888|0.7816|0.8386|0.746|0.8258|0.6494|0.7532|0.7229|0.8125|0.7866|0.8413|0.8507|SAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.124+4946G>T|||||||rs7366404||1||SNV|||YES|||4||||||||||||||0.7580|0.7753|0.7363|0.6181|0.8002|0.8507||||||||||0.7888|0.7816|0.8386|0.746|0.8258|0.6494|0.7532|0.7229|0.8125|0.7866|0.8413|0.8507|SAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,6:0.8:6:0,0:0,3:0,3:0|1:909894_G_T:909894:0,0,3,3 -chr1 910255 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|3%2C2;DP=7;ECNT=1;GERMQ=37;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=20;POPAF=7.3;TLOD=16.78;SRC=snv;GRP=s001;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs117086422|3916|1||SNV|||YES|||3||||||||||||||0.1585|0.0582|0.232|0.1101|0.1869|0.2628||||||||||0.1674|0.07101|0.3639|0.2171|0.1976|0.1003|0.2169|0.1859|0.202|0.1778|0.2484|0.3639|gnomADg_AMI|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs117086422|1180|1||SNV|||YES|||2||||||||||||||0.1585|0.0582|0.232|0.1101|0.1869|0.2628||||||||||0.1674|0.07101|0.3639|0.2171|0.1976|0.1003|0.2169|0.1859|0.202|0.1778|0.2484|0.3639|gnomADg_AMI|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.124+5298C>T|||||||rs117086422||1||SNV|||YES|||4||||||||||||||0.1585|0.0582|0.232|0.1101|0.1869|0.2628||||||||||0.1674|0.07101|0.3639|0.2171|0.1976|0.1003|0.2169|0.1859|0.202|0.1778|0.2484|0.3639|gnomADg_AMI|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344422|promoter||||||||||rs117086422||||SNV||||||||||||||||||||0.1585|0.0582|0.232|0.1101|0.1869|0.2628||||||||||0.1674|0.07101|0.3639|0.2171|0.1976|0.1003|0.2169|0.1859|0.202|0.1778|0.2484|0.3639|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,5:0.667:7:0,0:1,3:1,3:1,1,3,2 -chr1 910462 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4%2C5|1%2C1;DP=12;ECNT=1;GERMQ=47;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=128;POPAF=7.3;TLOD=5.71;SRC=snv;GRP=s001;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs372987778|3709|1||SNV|||YES|||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs372987778|973|1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.125-5288G>A|||||||rs372987778||1||SNV|||YES|||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344422|promoter||||||||||rs372987778||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:9,2:0.222:11:1,0:4,1:6,1:4,5,1,1 -chr1 910558 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=6%2C5|3%2C3;DP=17;ECNT=1;GERMQ=39;MBQ=35,33;MFRL=0,0;MMQ=60,60;MPOS=60;POPAF=7.3;TLOD=16.9;SRC=snv;GRP=s001;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs57760052|3613|1||SNV|||YES|||3||||||||||||||0.3634|0.5378|0.2968|0.3512|0.1968|0.3589||||||||||0.3082|0.4976|0.3681|0.2838|0.2206|0.3552|0.2185|0.2643|0.2113|0.2965|0.334|0.5378|AFR|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs57760052|877|1||SNV|||YES|||2||||||||||||||0.3634|0.5378|0.2968|0.3512|0.1968|0.3589||||||||||0.3082|0.4976|0.3681|0.2838|0.2206|0.3552|0.2185|0.2643|0.2113|0.2965|0.334|0.5378|AFR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.125-5192G>A|||||||rs57760052||1||SNV|||YES|||4||||||||||||||0.3634|0.5378|0.2968|0.3512|0.1968|0.3589||||||||||0.3082|0.4976|0.3681|0.2838|0.2206|0.3552|0.2185|0.2643|0.2113|0.2965|0.334|0.5378|AFR|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344422|promoter||||||||||rs57760052||||SNV||||||||||||||||||||0.3634|0.5378|0.2968|0.3512|0.1968|0.3589||||||||||0.3082|0.4976|0.3681|0.2838|0.2206|0.3552|0.2185|0.2643|0.2113|0.2965|0.334|0.5378|AFR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:11,6:0.498:17:0,1:5,3:5,5:6,5,3,3 -chr1 910698 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C2|1%2C2;DP=7;ECNT=1;GERMQ=37;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=93;POPAF=7.3;TLOD=9.55;SRC=snv;GRP=s001;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs28612348|3473|1||SNV|||YES|||3||||||||||||||0.1617|0.0719|0.232|0.1131|0.1799|0.2648||||||||||0.1669|0.09362|0.3337|0.2171|0.1979|0.1046|0.1831|0.212|0.1923|0.1789|0.2503|0.3337|gnomADg_AMI|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs28612348|737|1||SNV|||YES|||2||||||||||||||0.1617|0.0719|0.232|0.1131|0.1799|0.2648||||||||||0.1669|0.09362|0.3337|0.2171|0.1979|0.1046|0.1831|0.212|0.1923|0.1789|0.2503|0.3337|gnomADg_AMI|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.125-5052C>T|||||||rs28612348||1||SNV|||YES|||4||||||||||||||0.1617|0.0719|0.232|0.1131|0.1799|0.2648||||||||||0.1669|0.09362|0.3337|0.2171|0.1979|0.1046|0.1831|0.212|0.1923|0.1789|0.2503|0.3337|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,3:0.571:7:0,1:2,1:2,3:2,2,1,2 -chr1 910958 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|7%2C4;DP=11;ECNT=5;GERMQ=72;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=58;POPAF=7.3;TLOD=42.05;SRC=snv;GRP=s001;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs4970334|3213|1||SNV|||YES|||3||||||||||||||0.7147|0.6241|0.7291|0.6101|0.8002|0.8466||||||||||0.7498|0.6463|0.8377|0.7351|0.8256|0.6444|0.7533|0.7152|0.8118|0.7615|0.8402|0.8466|SAS|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs4970334|477|1||SNV|||YES|||2||||||||||||||0.7147|0.6241|0.7291|0.6101|0.8002|0.8466||||||||||0.7498|0.6463|0.8377|0.7351|0.8256|0.6444|0.7533|0.7152|0.8118|0.7615|0.8402|0.8466|SAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.125-4792A>G|||||||rs4970334||1||SNV|||YES|||4||||||||||||||0.7147|0.6241|0.7291|0.6101|0.8002|0.8466||||||||||0.7498|0.6463|0.8377|0.7351|0.8256|0.6444|0.7533|0.7152|0.8118|0.7615|0.8402|0.8466|SAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,11:0.889:11:0,0:0,7:0,7:0,0,7,4 -chr1 911018 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=4%2C3|6%2C5;DP=18;ECNT=5;GERMQ=35;MBQ=35,31;MFRL=0,0;MMQ=60,60;MPOS=24;POPAF=7.3;TLOD=33.25;SRC=snv;GRP=s001;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs58781670|3153|1||SNV|||YES|||3||||||||||||||0.3550|0.5106|0.2911|0.3512|0.1948|0.3589||||||||||0.2917|0.4624|0.2841|0.2767|0.2122|0.3564|0.1977|0.242|0.203|0.2845|0.3289|0.5106|AFR|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs58781670|417|1||SNV|||YES|||2||||||||||||||0.3550|0.5106|0.2911|0.3512|0.1948|0.3589||||||||||0.2917|0.4624|0.2841|0.2767|0.2122|0.3564|0.1977|0.242|0.203|0.2845|0.3289|0.5106|AFR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.125-4732G>A|||||||rs58781670||1||SNV|||YES|||4||||||||||||||0.3550|0.5106|0.2911|0.3512|0.1948|0.3589||||||||||0.2917|0.4624|0.2841|0.2767|0.2122|0.3564|0.1977|0.242|0.203|0.2845|0.3289|0.5106|AFR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,11:0.583:18:1,0:3,6:4,6:4,3,6,5 -chr1 911033 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=9%2C8|1%2C1;DP=19;ECNT=5;GERMQ=64;MBQ=34,32;MFRL=0,0;MMQ=60,60;MPOS=140;POPAF=7.3;TLOD=5.31;SRC=snv;GRP=s001;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA|||||||||||3138|1||SNV|||YES|||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA|||||||||||402|1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.125-4717T>C|||||||||1||SNV|||YES|||4|||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:17,2:0.167:19:1,0:8,1:9,1:9,8,1,1 -chr1 911109 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|8%2C10;DP=19;ECNT=5;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=90;POPAF=7.3;TLOD=66.49;SRC=snv;GRP=s001;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs4970333|3062|1||SNV|||YES|||3||||||||||||||0.7145|0.6225|0.7291|0.6101|0.8002|0.8476||||||||||0.7498|0.6454|0.8377|0.7349|0.8257|0.6441|0.7528|0.7278|0.8124|0.7622|0.84|0.8476|SAS|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs4970333|326|1||SNV|||YES|||2||||||||||||||0.7145|0.6225|0.7291|0.6101|0.8002|0.8476||||||||||0.7498|0.6454|0.8377|0.7349|0.8257|0.6441|0.7528|0.7278|0.8124|0.7622|0.84|0.8476|SAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.125-4641T>C|||||||rs4970333||1||SNV|||YES|||4||||||||||||||0.7145|0.6225|0.7291|0.6101|0.8002|0.8476||||||||||0.7498|0.6454|0.8377|0.7349|0.8257|0.6441|0.7528|0.7278|0.8124|0.7622|0.84|0.8476|SAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,18:0.925:18:0,1:0,7:0,11:0,0,8,10 -chr1 911219 . T G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5%2C5|1%2C1;DP=12;ECNT=2;GERMQ=49;MBQ=33,30;MFRL=0,0;MMQ=60,60;MPOS=25;POPAF=7.3;TLOD=5.33;SRC=snv;GRP=s001;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA|||||||||||2952|1||SNV|||YES|||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA|||||||||||216|1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.125-4531T>G|||||||||1||SNV|||YES|||4|||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:10,2:0.25:12:0,0:5,1:5,1:0|1:911219_T_G:911219:5,5,1,1 -chr1 911848 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4%2C4|1%2C1;DP=10;ECNT=2;GERMQ=45;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=38;POPAF=7.3;TLOD=6.18;SRC=snv;GRP=s001;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs3905286|2323|1||SNV|||YES|||3||||||||||||||0.2426|0.3563|0.268|0.1052|0.1928|0.2638||||||||||0.2363|0.3185|0.3549|0.2537|0.2056|0.09738|0.1829|0.1994|0.2007|0.2321|0.2498|0.3563|AFR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||1/1|ENST00000448179.1:n.40-97C>T|||||||rs3905286||1||SNV|||YES|||2||||||||||||||0.2426|0.3563|0.268|0.1052|0.1928|0.2638||||||||||0.2363|0.3185|0.3549|0.2537|0.2056|0.09738|0.1829|0.1994|0.2007|0.2321|0.2498|0.3563|AFR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.125-3902C>T|||||||rs3905286||1||SNV|||YES|||4||||||||||||||0.2426|0.3563|0.268|0.1052|0.1928|0.2638||||||||||0.2363|0.3185|0.3549|0.2537|0.2056|0.09738|0.1829|0.1994|0.2007|0.2321|0.2498|0.3563|AFR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:8,2:0.286:10:0,0:4,1:4,1:4,4,1,1 -chr1 911870 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|7%2C7;DP=14;ECNT=2;GERMQ=81;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=63;POPAF=7.3;TLOD=50.17;SRC=snv;GRP=s001;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs7416129|2301|1||SNV|||YES|||3||||||||||||||0.9994|0.9977|1|1|1|1||||||||||0.9992|0.9972|1|0.9999|1|1|1|1|1|0.999|0.9998|1|AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs7416129|5000|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.9994|0.9977|1|1|1|1||||||||||0.9992|0.9972|1|0.9999|1|1|1|1|1|0.999|0.9998|1|AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||1/1|ENST00000448179.1:n.40-75G>A|||||||rs7416129||1||SNV|||YES|||2||||||||||||||0.9994|0.9977|1|1|1|1||||||||||0.9992|0.9972|1|0.9999|1|1|1|1|1|0.999|0.9998|1|AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.125-3880G>A|||||||rs7416129||1||SNV|||YES|||4||||||||||||||0.9994|0.9977|1|1|1|1||||||||||0.9992|0.9972|1|0.9999|1|1|1|1|1|0.999|0.9998|1|AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs7416129|4995|-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.9994|0.9977|1|1|1|1||||||||||0.9992|0.9972|1|0.9999|1|1|1|1|1|0.999|0.9998|1|AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,14:0.889:14:0,0:0,7:0,7:0,0,7,7 -chr1 912111 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C2|1%2C1;DP=7;ECNT=1;GERMQ=39;MBQ=34,32;MFRL=0,0;MMQ=60,60;MPOS=9;POPAF=7.3;TLOD=6.23;SRC=snv;GRP=s001;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs28407778|2060|1||SNV|||YES|||3||||||||||||||0.2520|0.3858|0.2709|0.1052|0.1958|0.2669||||||||||0.2494|0.3466|0.3549|0.2571|0.2068|0.09622|0.1868|0.2184|0.2109|0.2419|0.2519|0.3858|AFR|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs28407778|4759|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.2520|0.3858|0.2709|0.1052|0.1958|0.2669||||||||||0.2494|0.3466|0.3549|0.2571|0.2068|0.09622|0.1868|0.2184|0.2109|0.2419|0.2519|0.3858|AFR|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA|2/2||ENST00000448179.1:n.206G>A||206|||||rs28407778||1||SNV|||YES|||2||||||||||||||0.2520|0.3858|0.2709|0.1052|0.1958|0.2669||||||||||0.2494|0.3466|0.3549|0.2571|0.2068|0.09622|0.1868|0.2184|0.2109|0.2419|0.2519|0.3858|AFR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.125-3639G>A|||||||rs28407778||1||SNV|||YES|||4||||||||||||||0.2520|0.3858|0.2709|0.1052|0.1958|0.2669||||||||||0.2494|0.3466|0.3549|0.2571|0.2068|0.09622|0.1868|0.2184|0.2109|0.2419|0.2519|0.3858|AFR|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs28407778|4754|-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.2520|0.3858|0.2709|0.1052|0.1958|0.2669||||||||||0.2494|0.3466|0.3549|0.2571|0.2068|0.09622|0.1868|0.2184|0.2109|0.2419|0.2519|0.3858|AFR|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000249803|CTCF_binding_site||||||||||rs28407778||||SNV||||||||||||||||||||0.2520|0.3858|0.2709|0.1052|0.1958|0.2669||||||||||0.2494|0.3466|0.3549|0.2571|0.2068|0.09622|0.1868|0.2184|0.2109|0.2419|0.2519|0.3858|AFR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,2:0.396:6:0,0:2,1:2,1:2,2,1,1 -chr1 912710 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C2;DP=6;ECNT=1;GERMQ=37;MBQ=32,34;MFRL=0,0;MMQ=60,60;MPOS=4;POPAF=7.3;TLOD=10.25;SRC=snv;GRP=s001;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs4246505|1461|1||SNV|||YES|||3||||||||||||||0.1711|0.1021|0.2349|0.1062|0.1899|0.2669||||||||||0.1827|0.1198|0.3546|0.2245|0.2023|0.09598|0.1867|0.1899|0.2082|0.1917|0.2514|0.3546|gnomADg_AMI|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs4246505|4160|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.1711|0.1021|0.2349|0.1062|0.1899|0.2669||||||||||0.1827|0.1198|0.3546|0.2245|0.2023|0.09598|0.1867|0.1899|0.2082|0.1917|0.2514|0.3546|gnomADg_AMI|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||||||||||rs4246505|4660|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.1711|0.1021|0.2349|0.1062|0.1899|0.2669||||||||||0.1827|0.1198|0.3546|0.2245|0.2023|0.09598|0.1867|0.1899|0.2082|0.1917|0.2514|0.3546|gnomADg_AMI|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA|2/2||ENST00000448179.1:n.805G>A||805|||||rs4246505||1||SNV|||YES|||2||||||||||||||0.1711|0.1021|0.2349|0.1062|0.1899|0.2669||||||||||0.1827|0.1198|0.3546|0.2245|0.2023|0.09598|0.1867|0.1899|0.2082|0.1917|0.2514|0.3546|gnomADg_AMI|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.125-3040G>A|||||||rs4246505||1||SNV|||YES|||4||||||||||||||0.1711|0.1021|0.2349|0.1062|0.1899|0.2669||||||||||0.1827|0.1198|0.3546|0.2245|0.2023|0.09598|0.1867|0.1899|0.2082|0.1917|0.2514|0.3546|gnomADg_AMI|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs4246505|4155|-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.1711|0.1021|0.2349|0.1062|0.1899|0.2669||||||||||0.1827|0.1198|0.3546|0.2245|0.2023|0.09598|0.1867|0.1899|0.2082|0.1917|0.2514|0.3546|gnomADg_AMI|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000249803|CTCF_binding_site||||||||||rs4246505||||SNV||||||||||||||||||||0.1711|0.1021|0.2349|0.1062|0.1899|0.2669||||||||||0.1827|0.1198|0.3546|0.2245|0.2023|0.09598|0.1867|0.1899|0.2082|0.1917|0.2514|0.3546|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,3:0.6:5:0,0:1,1:1,2:1,1,1,2 -chr1 913065 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=3%2C3|2%2C3;DP=11;ECNT=3;GERMQ=36;MBQ=32,31;MFRL=0,0;MMQ=60,60;MPOS=23;POPAF=7.3;TLOD=13.01;SRC=snv;GRP=s001;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs4626817|1106|1||SNV|||YES|||3||||||||||||||0.2506|0.3812|0.268|0.1062|0.1958|0.2669||||||||||0.246|0.3414|0.3564|0.2552|0.2032|0.09746|0.1859|0.1994|0.2073|0.2409|0.2531|0.3812|AFR|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs4626817|3805|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.2506|0.3812|0.268|0.1062|0.1958|0.2669||||||||||0.246|0.3414|0.3564|0.2552|0.2032|0.09746|0.1859|0.1994|0.2073|0.2409|0.2531|0.3812|AFR|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||||||||||rs4626817|4305|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.2506|0.3812|0.268|0.1062|0.1958|0.2669||||||||||0.246|0.3414|0.3564|0.2552|0.2032|0.09746|0.1859|0.1994|0.2073|0.2409|0.2531|0.3812|AFR|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA|2/2||ENST00000448179.1:n.1160G>A||1160|||||rs4626817||1||SNV|||YES|||2||||||||||||||0.2506|0.3812|0.268|0.1062|0.1958|0.2669||||||||||0.246|0.3414|0.3564|0.2552|0.2032|0.09746|0.1859|0.1994|0.2073|0.2409|0.2531|0.3812|AFR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.125-2685G>A|||||||rs4626817||1||SNV|||YES|||4||||||||||||||0.2506|0.3812|0.268|0.1062|0.1958|0.2669||||||||||0.246|0.3414|0.3564|0.2552|0.2032|0.09746|0.1859|0.1994|0.2073|0.2409|0.2531|0.3812|AFR|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs4626817|3800|-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.2506|0.3812|0.268|0.1062|0.1958|0.2669||||||||||0.246|0.3414|0.3564|0.2552|0.2032|0.09746|0.1859|0.1994|0.2073|0.2409|0.2531|0.3812|AFR|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000249803|CTCF_binding_site||||||||||rs4626817||||SNV||||||||||||||||||||0.2506|0.3812|0.268|0.1062|0.1958|0.2669||||||||||0.246|0.3414|0.3564|0.2552|0.2032|0.09746|0.1859|0.1994|0.2073|0.2409|0.2531|0.3812|AFR|||||||||||||,A|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM01052266364|||||||||||rs4626817||1||SNV||||||||||||||||||||0.2506|0.3812|0.268|0.1062|0.1958|0.2669||||||||||0.246|0.3414|0.3564|0.2552|0.2032|0.09746|0.1859|0.1994|0.2073|0.2409|0.2531|0.3812|AFR|||||ENSPFM0403|23|Y|-0.111|MYBL1::MAX||||,A|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM01052325845|||||||||||rs4626817||-1||SNV||||||||||||||||||||0.2506|0.3812|0.268|0.1062|0.1958|0.2669||||||||||0.246|0.3414|0.3564|0.2552|0.2032|0.09746|0.1859|0.1994|0.2073|0.2409|0.2531|0.3812|AFR|||||ENSPFM0598|6|N|0.002|TFAP2C::MAX||||,A|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM01051764069|||||||||||rs4626817||-1||SNV||||||||||||||||||||0.2506|0.3812|0.268|0.1062|0.1958|0.2669||||||||||0.246|0.3414|0.3564|0.2552|0.2032|0.09746|0.1859|0.1994|0.2073|0.2409|0.2531|0.3812|AFR|||||ENSPFM0595|17|Y|-0.041|TFAP2C::MAX||||,A|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM01052026605|||||||||||rs4626817||-1||SNV||||||||||||||||||||0.2506|0.3812|0.268|0.1062|0.1958|0.2669||||||||||0.246|0.3414|0.3564|0.2552|0.2032|0.09746|0.1859|0.1994|0.2073|0.2409|0.2531|0.3812|AFR|||||ENSPFM0597|5|N|-0.016|TFAP2C::MAX||||,A|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00194683147|||||||||||rs4626817||-1||SNV||||||||||||||||||||0.2506|0.3812|0.268|0.1062|0.1958|0.2669||||||||||0.246|0.3414|0.3564|0.2552|0.2032|0.09746|0.1859|0.1994|0.2073|0.2409|0.2531|0.3812|AFR|||||ENSPFM0605|17|N|-0.039|TFAP4::MAX||||,A|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM01051718122|||||||||||rs4626817||-1||SNV||||||||||||||||||||0.2506|0.3812|0.268|0.1062|0.1958|0.2669||||||||||0.246|0.3414|0.3564|0.2552|0.2032|0.09746|0.1859|0.1994|0.2073|0.2409|0.2531|0.3812|AFR|||||ENSPFM0596|18|Y|-0.048|TFAP2C::MAX||||,A|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00193792346|||||||||||rs4626817||1||SNV||||||||||||||||||||0.2506|0.3812|0.268|0.1062|0.1958|0.2669||||||||||0.246|0.3414|0.3564|0.2552|0.2032|0.09746|0.1859|0.1994|0.2073|0.2409|0.2531|0.3812|AFR|||||ENSPFM0240|5|N|-0.025|GCM1::MAX||||,A|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM01052237842|||||||||||rs4626817||1||SNV||||||||||||||||||||0.2506|0.3812|0.268|0.1062|0.1958|0.2669||||||||||0.246|0.3414|0.3564|0.2552|0.2032|0.09746|0.1859|0.1994|0.2073|0.2409|0.2531|0.3812|AFR|||||ENSPFM0365|4|Y|-0.032|MAX&TFAP4::MAX&CLOCK::BHLHA15|||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,5:0.444:11:2,1:2,2:4,3:3,3,2,3 -chr1 913076 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=3%2C3|3%2C4;DP=13;ECNT=3;GERMQ=35;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=31;POPAF=7.3;TLOD=23.19;SRC=snv;GRP=s001;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs11507767|1095|1||SNV|||YES|||3||||||||||||||0.2528|0.3873|0.2709|0.1062|0.1958|0.2679||||||||||0.2486|0.3503|0.3564|0.256|0.2029|0.09718|0.1865|0.1994|0.2073|0.2428|0.253|0.3873|AFR|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs11507767|3794|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.2528|0.3873|0.2709|0.1062|0.1958|0.2679||||||||||0.2486|0.3503|0.3564|0.256|0.2029|0.09718|0.1865|0.1994|0.2073|0.2428|0.253|0.3873|AFR|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||||||||||rs11507767|4294|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.2528|0.3873|0.2709|0.1062|0.1958|0.2679||||||||||0.2486|0.3503|0.3564|0.256|0.2029|0.09718|0.1865|0.1994|0.2073|0.2428|0.253|0.3873|AFR|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA|2/2||ENST00000448179.1:n.1171A>G||1171|||||rs11507767||1||SNV|||YES|||2||||||||||||||0.2528|0.3873|0.2709|0.1062|0.1958|0.2679||||||||||0.2486|0.3503|0.3564|0.256|0.2029|0.09718|0.1865|0.1994|0.2073|0.2428|0.253|0.3873|AFR|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.125-2674A>G|||||||rs11507767||1||SNV|||YES|||4||||||||||||||0.2528|0.3873|0.2709|0.1062|0.1958|0.2679||||||||||0.2486|0.3503|0.3564|0.256|0.2029|0.09718|0.1865|0.1994|0.2073|0.2428|0.253|0.3873|AFR|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs11507767|3789|-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.2528|0.3873|0.2709|0.1062|0.1958|0.2679||||||||||0.2486|0.3503|0.3564|0.256|0.2029|0.09718|0.1865|0.1994|0.2073|0.2428|0.253|0.3873|AFR|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000249803|CTCF_binding_site||||||||||rs11507767||||SNV||||||||||||||||||||0.2528|0.3873|0.2709|0.1062|0.1958|0.2679||||||||||0.2486|0.3503|0.3564|0.256|0.2029|0.09718|0.1865|0.1994|0.2073|0.2428|0.253|0.3873|AFR|||||||||||||,G|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM01051764069|||||||||||rs11507767||-1||SNV||||||||||||||||||||0.2528|0.3873|0.2709|0.1062|0.1958|0.2679||||||||||0.2486|0.3503|0.3564|0.256|0.2029|0.09718|0.1865|0.1994|0.2073|0.2428|0.253|0.3873|AFR|||||ENSPFM0595|6|N|-0.005|TFAP2C::MAX||||,G|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00194683147|||||||||||rs11507767||-1||SNV||||||||||||||||||||0.2528|0.3873|0.2709|0.1062|0.1958|0.2679||||||||||0.2486|0.3503|0.3564|0.256|0.2029|0.09718|0.1865|0.1994|0.2073|0.2428|0.253|0.3873|AFR|||||ENSPFM0605|6|Y|-0.050|TFAP4::MAX||||,G|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM01051718122|||||||||||rs11507767||-1||SNV||||||||||||||||||||0.2528|0.3873|0.2709|0.1062|0.1958|0.2679||||||||||0.2486|0.3503|0.3564|0.256|0.2029|0.09718|0.1865|0.1994|0.2073|0.2428|0.253|0.3873|AFR|||||ENSPFM0596|7|N|0.011|TFAP2C::MAX||||,G|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00193792346|||||||||||rs11507767||1||SNV||||||||||||||||||||0.2528|0.3873|0.2709|0.1062|0.1958|0.2679||||||||||0.2486|0.3503|0.3564|0.256|0.2029|0.09718|0.1865|0.1994|0.2073|0.2428|0.253|0.3873|AFR|||||ENSPFM0240|16|Y|-0.039|GCM1::MAX||||,G|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM01052237842|||||||||||rs11507767||1||SNV||||||||||||||||||||0.2528|0.3873|0.2709|0.1062|0.1958|0.2679||||||||||0.2486|0.3503|0.3564|0.256|0.2029|0.09718|0.1865|0.1994|0.2073|0.2428|0.253|0.3873|AFR|||||ENSPFM0365|15|Y|0.029|MAX&TFAP4::MAX&CLOCK::BHLHA15|||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,7:0.556:13:1,1:2,3:3,4:3,3,3,4 -chr1 913086 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=5%2C6|1%2C1;DP=13;ECNT=3;GERMQ=51;MBQ=35,32;MFRL=0,0;MMQ=60,60;MPOS=34;POPAF=7.3;TLOD=5.51;SRC=snv;GRP=s001;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA|||||||||||1085|1||SNV|||YES|||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA|||||||||||3784|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron|||||||||||4284|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA|2/2||ENST00000448179.1:n.1181C>T||1181|||||||1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.125-2664C>T|||||||||1||SNV|||YES|||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron|||||||||||3779|-1||SNV|HGNC|HGNC:53933||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000249803|CTCF_binding_site||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:11,2:0.222:13:1,1:5,0:6,1:5,6,1,1 -chr1 913337 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=6%2C7|1%2C1;DP=16;ECNT=3;GERMQ=55;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=78;POPAF=7.3;TLOD=5.47;SRC=snv;GRP=s001;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA|||||||||||834|1||SNV|||YES|||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA|||||||||||3533|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron|||||||||||4033|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA|2/2||ENST00000448179.1:n.1432C>T||1432|||||||1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.125-2413C>T|||||||||1||SNV|||YES|||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron|||||||||||3528|-1||SNV|HGNC|HGNC:53933||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000249803|CTCF_binding_site||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:13,2:0.197:15:0,0:6,1:7,1:6,7,1,1 -chr1 913358 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=4%2C3|3%2C3;DP=14;ECNT=3;GERMQ=36;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=70;POPAF=7.3;TLOD=19.36;SRC=snv;GRP=s001;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs3829741|813|1||SNV|||YES|||3||||||||||||||0.1707|0.1014|0.2349|0.1052|0.1899|0.2669||||||||||0.1807|0.1164|0.3473|0.2234|0.2018|0.09586|0.1854|0.1867|0.2074|0.19|0.2522|0.3473|gnomADg_AMI|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs3829741|3512|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.1707|0.1014|0.2349|0.1052|0.1899|0.2669||||||||||0.1807|0.1164|0.3473|0.2234|0.2018|0.09586|0.1854|0.1867|0.2074|0.19|0.2522|0.3473|gnomADg_AMI|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||||||||||rs3829741|4012|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.1707|0.1014|0.2349|0.1052|0.1899|0.2669||||||||||0.1807|0.1164|0.3473|0.2234|0.2018|0.09586|0.1854|0.1867|0.2074|0.19|0.2522|0.3473|gnomADg_AMI|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA|2/2||ENST00000448179.1:n.1453C>T||1453|||||rs3829741||1||SNV|||YES|||2||||||||||||||0.1707|0.1014|0.2349|0.1052|0.1899|0.2669||||||||||0.1807|0.1164|0.3473|0.2234|0.2018|0.09586|0.1854|0.1867|0.2074|0.19|0.2522|0.3473|gnomADg_AMI|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.125-2392C>T|||||||rs3829741||1||SNV|||YES|||4||||||||||||||0.1707|0.1014|0.2349|0.1052|0.1899|0.2669||||||||||0.1807|0.1164|0.3473|0.2234|0.2018|0.09586|0.1854|0.1867|0.2074|0.19|0.2522|0.3473|gnomADg_AMI|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs3829741|3507|-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.1707|0.1014|0.2349|0.1052|0.1899|0.2669||||||||||0.1807|0.1164|0.3473|0.2234|0.2018|0.09586|0.1854|0.1867|0.2074|0.19|0.2522|0.3473|gnomADg_AMI|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000249803|CTCF_binding_site||||||||||rs3829741||||SNV||||||||||||||||||||0.1707|0.1014|0.2349|0.1052|0.1899|0.2669||||||||||0.1807|0.1164|0.3473|0.2234|0.2018|0.09586|0.1854|0.1867|0.2074|0.19|0.2522|0.3473|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,6:0.4:13:0,0:4,3:5,3:4,3,3,3 -chr1 914618 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C5;DP=10;ECNT=1;GERMQ=66;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=96;POPAF=7.3;TLOD=33.21;SRC=snv;GRP=s001;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||1/1|ENST00000398216.2:n.274+174A>G|||||||rs13303222||1||SNV|||YES|||3||||||||||||||0.8235|0.8313|0.8372|0.7619|0.8042|0.8865||||||||||0.8191|0.8259|0.8553|0.8409|0.8369|0.7692|0.7582|0.7152|0.8185|0.822|0.8721|0.8865|SAS|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs13303222|2252|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.8235|0.8313|0.8372|0.7619|0.8042|0.8865||||||||||0.8191|0.8259|0.8553|0.8409|0.8369|0.7692|0.7582|0.7152|0.8185|0.822|0.8721|0.8865|SAS|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||||||||||rs13303222|2752|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.8235|0.8313|0.8372|0.7619|0.8042|0.8865||||||||||0.8191|0.8259|0.8553|0.8409|0.8369|0.7692|0.7582|0.7152|0.8185|0.822|0.8721|0.8865|SAS|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA|2/2||ENST00000448179.1:n.2713A>G||2713|||||rs13303222||1||SNV|||YES|||2||||||||||||||0.8235|0.8313|0.8372|0.7619|0.8042|0.8865||||||||||0.8191|0.8259|0.8553|0.8409|0.8369|0.7692|0.7582|0.7152|0.8185|0.822|0.8721|0.8865|SAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.125-1132A>G|||||||rs13303222||1||SNV|||YES|||4||||||||||||||0.8235|0.8313|0.8372|0.7619|0.8042|0.8865||||||||||0.8191|0.8259|0.8553|0.8409|0.8369|0.7692|0.7582|0.7152|0.8185|0.822|0.8721|0.8865|SAS|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs13303222|2247|-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.8235|0.8313|0.8372|0.7619|0.8042|0.8865||||||||||0.8191|0.8259|0.8553|0.8409|0.8369|0.7692|0.7582|0.7152|0.8185|0.822|0.8721|0.8865|SAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,9:0.857:9:0,1:0,3:0,5:0,0,4,5 -chr1 914991 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=19;POPAF=7.3;TLOD=3.38;SRC=snv;GRP=s001;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs6679046|20|1||SNV|||YES|||3||||||||||||||0.5088|0.357|0.4553|0.5933|0.6014|0.5695||||||||||0.527|0.3832|0.4989|0.4847|0.6056|0.6286|0.5616|0.484|0.6029|0.5371|0.5813|0.6286|gnomADg_EAS|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs6679046|1879|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.5088|0.357|0.4553|0.5933|0.6014|0.5695||||||||||0.527|0.3832|0.4989|0.4847|0.6056|0.6286|0.5616|0.484|0.6029|0.5371|0.5813|0.6286|gnomADg_EAS|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||||||||||rs6679046|2379|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.5088|0.357|0.4553|0.5933|0.6014|0.5695||||||||||0.527|0.3832|0.4989|0.4847|0.6056|0.6286|0.5616|0.484|0.6029|0.5371|0.5813|0.6286|gnomADg_EAS|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs6679046|43|1||SNV|||YES|||2||||||||||||||0.5088|0.357|0.4553|0.5933|0.6014|0.5695||||||||||0.527|0.3832|0.4989|0.4847|0.6056|0.6286|0.5616|0.484|0.6029|0.5371|0.5813|0.6286|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||1/1|ENST00000607769.1:n.125-759G>T|||||||rs6679046||1||SNV|||YES|||4||||||||||||||0.5088|0.357|0.4553|0.5933|0.6014|0.5695||||||||||0.527|0.3832|0.4989|0.4847|0.6056|0.6286|0.5616|0.484|0.6029|0.5371|0.5813|0.6286|gnomADg_EAS|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs6679046|1874|-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.5088|0.357|0.4553|0.5933|0.6014|0.5695||||||||||0.527|0.3832|0.4989|0.4847|0.6056|0.6286|0.5616|0.484|0.6029|0.5371|0.5813|0.6286|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 915810 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C3|6%2C4;DP=16;ECNT=2;GERMQ=35;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=78;POPAF=7.3;TLOD=48.47;SRC=snv;GRP=s001;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs28609852|839|1||SNV|||YES|||3||||||||||||||0.2410|0.3427|0.2709|0.1052|0.1958|0.2689||||||||||0.2397|0.312|0.3575|0.2562|0.2072|0.09645|0.1867|0.1994|0.2105|0.2392|0.253|0.3575|gnomADg_AMI|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs28609852|1060|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.2410|0.3427|0.2709|0.1052|0.1958|0.2689||||||||||0.2397|0.312|0.3575|0.2562|0.2072|0.09645|0.1867|0.1994|0.2105|0.2392|0.253|0.3575|gnomADg_AMI|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||||||||||rs28609852|1560|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.2410|0.3427|0.2709|0.1052|0.1958|0.2689||||||||||0.2397|0.312|0.3575|0.2562|0.2072|0.09645|0.1867|0.1994|0.2105|0.2392|0.253|0.3575|gnomADg_AMI|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs28609852|862|1||SNV|||YES|||2||||||||||||||0.2410|0.3427|0.2709|0.1052|0.1958|0.2689||||||||||0.2397|0.312|0.3575|0.2562|0.2072|0.09645|0.1867|0.1994|0.2105|0.2392|0.253|0.3575|gnomADg_AMI|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA|2/2||ENST00000607769.1:n.185G>A||185|||||rs28609852||1||SNV|||YES|||4||||||||||||||0.2410|0.3427|0.2709|0.1052|0.1958|0.2689||||||||||0.2397|0.312|0.3575|0.2562|0.2072|0.09645|0.1867|0.1994|0.2105|0.2392|0.253|0.3575|gnomADg_AMI|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs28609852|1055|-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.2410|0.3427|0.2709|0.1052|0.1958|0.2689||||||||||0.2397|0.312|0.3575|0.2562|0.2072|0.09645|0.1867|0.1994|0.2105|0.2392|0.253|0.3575|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:6,10:0.636:16:0,0:3,6:3,6:0|1:915810_G_A:915810:3,3,6,4 -chr1 915824 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C3|7%2C7;DP=20;ECNT=2;GERMQ=39;MBQ=35,35;MFRL=0,0;MMQ=60,60;MPOS=82;POPAF=7.3;TLOD=55.04;SRC=snv;GRP=s001;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs28552953|853|1||SNV|||YES|||3||||||||||||||0.2666|0.4274|0.2795|0.1052|0.2028|0.272||||||||||0.2713|0.3989|0.3564|0.2679|0.2189|0.09653|0.1933|0.212|0.2233|0.2581|0.2568|0.4274|AFR|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs28552953|1046|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.2666|0.4274|0.2795|0.1052|0.2028|0.272||||||||||0.2713|0.3989|0.3564|0.2679|0.2189|0.09653|0.1933|0.212|0.2233|0.2581|0.2568|0.4274|AFR|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||||||||||rs28552953|1546|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.2666|0.4274|0.2795|0.1052|0.2028|0.272||||||||||0.2713|0.3989|0.3564|0.2679|0.2189|0.09653|0.1933|0.212|0.2233|0.2581|0.2568|0.4274|AFR|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs28552953|876|1||SNV|||YES|||2||||||||||||||0.2666|0.4274|0.2795|0.1052|0.2028|0.272||||||||||0.2713|0.3989|0.3564|0.2679|0.2189|0.09653|0.1933|0.212|0.2233|0.2581|0.2568|0.4274|AFR|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA|2/2||ENST00000607769.1:n.199G>C||199|||||rs28552953||1||SNV|||YES|||4||||||||||||||0.2666|0.4274|0.2795|0.1052|0.2028|0.272||||||||||0.2713|0.3989|0.3564|0.2679|0.2189|0.09653|0.1933|0.212|0.2233|0.2581|0.2568|0.4274|AFR|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs28552953|1041|-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.2666|0.4274|0.2795|0.1052|0.2028|0.272||||||||||0.2713|0.3989|0.3564|0.2679|0.2189|0.09653|0.1933|0.212|0.2233|0.2581|0.2568|0.4274|AFR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:6,14:0.667:20:0,0:3,7:3,7:0|1:915810_G_A:915810:3,3,7,7 -chr1 916119 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C1;DP=5;ECNT=1;GERMQ=55;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=32;POPAF=7.3;TLOD=17.69;SRC=snv;GRP=s001;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs4970465|1148|1||SNV|||YES|||3||||||||||||||0.8281|0.8033|0.8357|0.8413|0.7982|0.8732||||||||||0.8129|0.7997|0.8553|0.8382|0.8225|0.8523|0.7561|0.7152|0.8161|0.8223|0.8707|0.8732|SAS|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs4970465|751|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.8281|0.8033|0.8357|0.8413|0.7982|0.8732||||||||||0.8129|0.7997|0.8553|0.8382|0.8225|0.8523|0.7561|0.7152|0.8161|0.8223|0.8707|0.8732|SAS|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||||||||||rs4970465|1251|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.8281|0.8033|0.8357|0.8413|0.7982|0.8732||||||||||0.8129|0.7997|0.8553|0.8382|0.8225|0.8523|0.7561|0.7152|0.8161|0.8223|0.8707|0.8732|SAS|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs4970465|1171|1||SNV|||YES|||2||||||||||||||0.8281|0.8033|0.8357|0.8413|0.7982|0.8732||||||||||0.8129|0.7997|0.8553|0.8382|0.8225|0.8523|0.7561|0.7152|0.8161|0.8223|0.8707|0.8732|SAS|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||||||||||rs4970465|143|1||SNV|||YES|||4||||||||||||||0.8281|0.8033|0.8357|0.8413|0.7982|0.8732||||||||||0.8129|0.7997|0.8553|0.8382|0.8225|0.8523|0.7561|0.7152|0.8161|0.8223|0.8707|0.8732|SAS|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs4970465|746|-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.8281|0.8033|0.8357|0.8413|0.7982|0.8732||||||||||0.8129|0.7997|0.8553|0.8382|0.8225|0.8523|0.7561|0.7152|0.8161|0.8223|0.8707|0.8732|SAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.833:5:0,0:0,4:0,4:0,0,4,1 -chr1 916254 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=6%2C8|1%2C1;DP=16;ECNT=1;GERMQ=57;MBQ=33,31;MFRL=0,0;MMQ=60,60;MPOS=131;POPAF=7.3;TLOD=5.2;SRC=snv;GRP=s001;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA|||||||||||1283|1||SNV|||YES|||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA|||||||||||616|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron|||||||||||1116|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA|||||||||||1306|1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA|||||||||||278|1||SNV|||YES|||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron|||||||||||611|-1||SNV|HGNC|HGNC:53933|||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:14,2:0.182:16:2,0:6,1:8,1:6,8,1,1 -chr1 916377 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=1;GERMQ=52;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=28;POPAF=7.3;TLOD=14.71;SRC=snv;GRP=s001;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs4970464|1406|1||SNV|||YES|||3||||||||||||||0.9956|0.9841|0.9986|1|1|1||||||||||0.9904|0.9686|1|0.9934|0.9991|0.9994|0.9999|0.9968|0.9995|0.9928|0.9983|1|EAS&EUR&SAS&gnomADg_AMI|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs4970464|493|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.9956|0.9841|0.9986|1|1|1||||||||||0.9904|0.9686|1|0.9934|0.9991|0.9994|0.9999|0.9968|0.9995|0.9928|0.9983|1|EAS&EUR&SAS&gnomADg_AMI|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||||||||||rs4970464|993|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.9956|0.9841|0.9986|1|1|1||||||||||0.9904|0.9686|1|0.9934|0.9991|0.9994|0.9999|0.9968|0.9995|0.9928|0.9983|1|EAS&EUR&SAS&gnomADg_AMI|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs4970464|1429|1||SNV|||YES|||2||||||||||||||0.9956|0.9841|0.9986|1|1|1||||||||||0.9904|0.9686|1|0.9934|0.9991|0.9994|0.9999|0.9968|0.9995|0.9928|0.9983|1|EAS&EUR&SAS&gnomADg_AMI|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||||||||||rs4970464|401|1||SNV|||YES|||4||||||||||||||0.9956|0.9841|0.9986|1|1|1||||||||||0.9904|0.9686|1|0.9934|0.9991|0.9994|0.9999|0.9968|0.9995|0.9928|0.9983|1|EAS&EUR&SAS&gnomADg_AMI|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs4970464|488|-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.9956|0.9841|0.9986|1|1|1||||||||||0.9904|0.9686|1|0.9934|0.9991|0.9994|0.9999|0.9968|0.9995|0.9928|0.9983|1|EAS&EUR&SAS&gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.8:4:0,1:0,2:0,3:0,0,2,2 -chr1 916657 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=2%2C2|6%2C7;DP=18;ECNT=3;GERMQ=42;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=87;POPAF=7.3;TLOD=45.17;SRC=snv;GRP=s001;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs4970463|1686|1||SNV|||YES|||3||||||||||||||0.3450|0.0658|0.4294|0.2798|0.5885|0.4796||||||||||0.4286|0.1327|0.4681|0.4432|0.584|0.3115|0.5235|0.4462|0.5854|0.4565|0.4932|0.5885|EUR|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs4970463|213|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.3450|0.0658|0.4294|0.2798|0.5885|0.4796||||||||||0.4286|0.1327|0.4681|0.4432|0.584|0.3115|0.5235|0.4462|0.5854|0.4565|0.4932|0.5885|EUR|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||||||||||rs4970463|713|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.3450|0.0658|0.4294|0.2798|0.5885|0.4796||||||||||0.4286|0.1327|0.4681|0.4432|0.584|0.3115|0.5235|0.4462|0.5854|0.4565|0.4932|0.5885|EUR|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs4970463|1709|1||SNV|||YES|||2||||||||||||||0.3450|0.0658|0.4294|0.2798|0.5885|0.4796||||||||||0.4286|0.1327|0.4681|0.4432|0.584|0.3115|0.5235|0.4462|0.5854|0.4565|0.4932|0.5885|EUR|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||||||||||rs4970463|681|1||SNV|||YES|||4||||||||||||||0.3450|0.0658|0.4294|0.2798|0.5885|0.4796||||||||||0.4286|0.1327|0.4681|0.4432|0.584|0.3115|0.5235|0.4462|0.5854|0.4565|0.4932|0.5885|EUR|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs4970463|208|-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.3450|0.0658|0.4294|0.2798|0.5885|0.4796||||||||||0.4286|0.1327|0.4681|0.4432|0.584|0.3115|0.5235|0.4462|0.5854|0.4565|0.4932|0.5885|EUR|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918365|enhancer||||||||||rs4970463||||SNV||||||||||||||||||||0.3450|0.0658|0.4294|0.2798|0.5885|0.4796||||||||||0.4286|0.1327|0.4681|0.4432|0.584|0.3115|0.5235|0.4462|0.5854|0.4565|0.4932|0.5885|EUR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,13:0.692:17:1,1:2,6:3,8:2,2,6,7 -chr1 916683 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=3%2C3|4%2C5;DP=16;ECNT=3;GERMQ=35;MBQ=32,32;MFRL=0,0;MMQ=60,60;MPOS=90;POPAF=7.3;TLOD=30.17;SRC=snv;GRP=s001;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs28436996|1712|1||SNV|||YES|||3||||||||||||||0.3448|0.0658|0.4294|0.2798|0.5875|0.4796||||||||||0.4292|0.1329|0.4682|0.4429|0.5833|0.3139|0.5276|0.4462|0.5857|0.4577|0.4965|0.5875|EUR|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs28436996|187|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.3448|0.0658|0.4294|0.2798|0.5875|0.4796||||||||||0.4292|0.1329|0.4682|0.4429|0.5833|0.3139|0.5276|0.4462|0.5857|0.4577|0.4965|0.5875|EUR|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||||||||||rs28436996|687|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.3448|0.0658|0.4294|0.2798|0.5875|0.4796||||||||||0.4292|0.1329|0.4682|0.4429|0.5833|0.3139|0.5276|0.4462|0.5857|0.4577|0.4965|0.5875|EUR|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs28436996|1735|1||SNV|||YES|||2||||||||||||||0.3448|0.0658|0.4294|0.2798|0.5875|0.4796||||||||||0.4292|0.1329|0.4682|0.4429|0.5833|0.3139|0.5276|0.4462|0.5857|0.4577|0.4965|0.5875|EUR|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||||||||||rs28436996|707|1||SNV|||YES|||4||||||||||||||0.3448|0.0658|0.4294|0.2798|0.5875|0.4796||||||||||0.4292|0.1329|0.4682|0.4429|0.5833|0.3139|0.5276|0.4462|0.5857|0.4577|0.4965|0.5875|EUR|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs28436996|182|-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.3448|0.0658|0.4294|0.2798|0.5875|0.4796||||||||||0.4292|0.1329|0.4682|0.4429|0.5833|0.3139|0.5276|0.4462|0.5857|0.4577|0.4965|0.5875|EUR|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918365|enhancer||||||||||rs28436996||||SNV||||||||||||||||||||0.3448|0.0658|0.4294|0.2798|0.5875|0.4796||||||||||0.4292|0.1329|0.4682|0.4429|0.5833|0.3139|0.5276|0.4462|0.5857|0.4577|0.4965|0.5875|EUR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,9:0.546:15:1,1:3,4:4,5:3,3,4,5 -chr1 916753 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|5%2C7;DP=12;ECNT=3;GERMQ=75;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=78;POPAF=7.3;TLOD=43.87;SRC=snv;GRP=s001;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs7518702|1782|1||SNV|||YES|||3||||||||||||||0.7288|0.6248|0.7219|0.6994|0.7952|0.8364||||||||||0.75|0.6348|0.8553|0.7356|0.8131|0.7261|0.7522|0.6994|0.8138|0.7706|0.8351|0.8553|gnomADg_AMI|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs7518702|117|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.7288|0.6248|0.7219|0.6994|0.7952|0.8364||||||||||0.75|0.6348|0.8553|0.7356|0.8131|0.7261|0.7522|0.6994|0.8138|0.7706|0.8351|0.8553|gnomADg_AMI|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||||||||||rs7518702|617|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.7288|0.6248|0.7219|0.6994|0.7952|0.8364||||||||||0.75|0.6348|0.8553|0.7356|0.8131|0.7261|0.7522|0.6994|0.8138|0.7706|0.8351|0.8553|gnomADg_AMI|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs7518702|1805|1||SNV|||YES|||2||||||||||||||0.7288|0.6248|0.7219|0.6994|0.7952|0.8364||||||||||0.75|0.6348|0.8553|0.7356|0.8131|0.7261|0.7522|0.6994|0.8138|0.7706|0.8351|0.8553|gnomADg_AMI|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||||||||||rs7518702|777|1||SNV|||YES|||4||||||||||||||0.7288|0.6248|0.7219|0.6994|0.7952|0.8364||||||||||0.75|0.6348|0.8553|0.7356|0.8131|0.7261|0.7522|0.6994|0.8138|0.7706|0.8351|0.8553|gnomADg_AMI|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs7518702|112|-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.7288|0.6248|0.7219|0.6994|0.7952|0.8364||||||||||0.75|0.6348|0.8553|0.7356|0.8131|0.7261|0.7522|0.6994|0.8138|0.7706|0.8351|0.8553|gnomADg_AMI|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918365|enhancer||||||||||rs7518702||||SNV||||||||||||||||||||0.7288|0.6248|0.7219|0.6994|0.7952|0.8364||||||||||0.75|0.6348|0.8553|0.7356|0.8131|0.7261|0.7522|0.6994|0.8138|0.7706|0.8351|0.8553|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,12:0.9:12:0,1:0,5:0,8:0,0,5,7 -chr1 917166 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=11%2C8|1%2C1;DP=21;ECNT=1;GERMQ=69;MBQ=34,31;MFRL=0,0;MMQ=60,60;MPOS=122;POPAF=7.3;TLOD=4.86;SRC=snv;GRP=s001;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA|||||||||||2195|1||SNV|||YES|||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA|4/4||ENST00000417705.1:n.1093G>A||1093|||||||-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron|||||||||||204|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA|||||||||||2218|1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA|||||||||||1190|1||SNV|||YES|||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron|1/1||ENST00000609207.1:n.3851G>A||3851|||||||-1||SNV|HGNC|HGNC:53933||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918365|enhancer||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:19,2:0.143:21:0,0:11,1:11,1:11,8,1,1 -chr1 917284 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C3|2%2C3;DP=11;ECNT=2;GERMQ=36;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=65;POPAF=7.3;TLOD=15.64;SRC=snv;GRP=s001;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs28605311|2313|1||SNV|||YES|||3||||||||||||||0.1739|0.115|0.2349|0.1052|0.1859|0.2689||||||||||0.1808|0.1268|0.3571|0.2187|0.1961|0.09571|0.1825|0.1815|0.2031|0.186|0.2513|0.3571|gnomADg_AMI|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA|4/4||ENST00000417705.1:n.975G>A||975|||||rs28605311||-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.1739|0.115|0.2349|0.1052|0.1859|0.2689||||||||||0.1808|0.1268|0.3571|0.2187|0.1961|0.09571|0.1825|0.1815|0.2031|0.186|0.2513|0.3571|gnomADg_AMI|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||||||||||rs28605311|86|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.1739|0.115|0.2349|0.1052|0.1859|0.2689||||||||||0.1808|0.1268|0.3571|0.2187|0.1961|0.09571|0.1825|0.1815|0.2031|0.186|0.2513|0.3571|gnomADg_AMI|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs28605311|2336|1||SNV|||YES|||2||||||||||||||0.1739|0.115|0.2349|0.1052|0.1859|0.2689||||||||||0.1808|0.1268|0.3571|0.2187|0.1961|0.09571|0.1825|0.1815|0.2031|0.186|0.2513|0.3571|gnomADg_AMI|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||||||||||rs28605311|1308|1||SNV|||YES|||4||||||||||||||0.1739|0.115|0.2349|0.1052|0.1859|0.2689||||||||||0.1808|0.1268|0.3571|0.2187|0.1961|0.09571|0.1825|0.1815|0.2031|0.186|0.2513|0.3571|gnomADg_AMI|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron|1/1||ENST00000609207.1:n.3733G>A||3733|||||rs28605311||-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.1739|0.115|0.2349|0.1052|0.1859|0.2689||||||||||0.1808|0.1268|0.3571|0.2187|0.1961|0.09571|0.1825|0.1815|0.2031|0.186|0.2513|0.3571|gnomADg_AMI|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918365|enhancer||||||||||rs28605311||||SNV||||||||||||||||||||0.1739|0.115|0.2349|0.1052|0.1859|0.2689||||||||||0.1808|0.1268|0.3571|0.2187|0.1961|0.09571|0.1825|0.1815|0.2031|0.186|0.2513|0.3571|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,5:0.444:11:1,1:3,2:4,3:3,3,2,3 -chr1 917378 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=8%2C6|4%2C1;DP=19;ECNT=2;GERMQ=45;MBQ=34,35;MFRL=0,0;MMQ=60,60;MPOS=73;POPAF=7.3;TLOD=15.48;SRC=snv;GRP=s001;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs4970462|2407|1||SNV|||YES|||3||||||||||||||0.1552|0.0446|0.2305|0.1052|0.1879|0.2689||||||||||0.164|0.06788|0.3557|0.2129|0.1961|0.09625|0.1825|0.1867|0.2033|0.1739|0.2503|0.3557|gnomADg_AMI|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA|4/4||ENST00000417705.1:n.881C>G||881|||||rs4970462||-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.1552|0.0446|0.2305|0.1052|0.1879|0.2689||||||||||0.164|0.06788|0.3557|0.2129|0.1961|0.09625|0.1825|0.1867|0.2033|0.1739|0.2503|0.3557|gnomADg_AMI|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron|2/2||ENST00000432961.1:n.622C>G||622|||||rs4970462||-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.1552|0.0446|0.2305|0.1052|0.1879|0.2689||||||||||0.164|0.06788|0.3557|0.2129|0.1961|0.09625|0.1825|0.1867|0.2033|0.1739|0.2503|0.3557|gnomADg_AMI|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs4970462|2430|1||SNV|||YES|||2||||||||||||||0.1552|0.0446|0.2305|0.1052|0.1879|0.2689||||||||||0.164|0.06788|0.3557|0.2129|0.1961|0.09625|0.1825|0.1867|0.2033|0.1739|0.2503|0.3557|gnomADg_AMI|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||||||||||rs4970462|1402|1||SNV|||YES|||4||||||||||||||0.1552|0.0446|0.2305|0.1052|0.1879|0.2689||||||||||0.164|0.06788|0.3557|0.2129|0.1961|0.09625|0.1825|0.1867|0.2033|0.1739|0.2503|0.3557|gnomADg_AMI|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron|1/1||ENST00000609207.1:n.3639C>G||3639|||||rs4970462||-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.1552|0.0446|0.2305|0.1052|0.1879|0.2689||||||||||0.164|0.06788|0.3557|0.2129|0.1961|0.09625|0.1825|0.1867|0.2033|0.1739|0.2503|0.3557|gnomADg_AMI|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918365|enhancer||||||||||rs4970462||||SNV||||||||||||||||||||0.1552|0.0446|0.2305|0.1052|0.1879|0.2689||||||||||0.164|0.06788|0.3557|0.2129|0.1961|0.09625|0.1825|0.1867|0.2033|0.1739|0.2503|0.3557|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:14,5:0.333:19:1,0:8,4:9,4:8,6,4,1 -chr1 917495 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4%2C4|7%2C8;DP=23;ECNT=1;GERMQ=37;MBQ=34,32;MFRL=0,0;MMQ=60,60;MPOS=26;POPAF=7.3;TLOD=45.76;SRC=snv;GRP=s001;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs13303369|2524|1||SNV|||YES|||3||||||||||||||0.4942|0.3079|0.4553|0.5853|0.6024|0.5685||||||||||0.5199|0.345|0.4989|0.4886|0.6118|0.6224|0.5697|0.4873|0.6083|0.5384|0.5843|0.6224|gnomADg_EAS|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA|4/4||ENST00000417705.1:n.764G>A||764|||||rs13303369||-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.4942|0.3079|0.4553|0.5853|0.6024|0.5685||||||||||0.5199|0.345|0.4989|0.4886|0.6118|0.6224|0.5697|0.4873|0.6083|0.5384|0.5843|0.6224|gnomADg_EAS|||||||||||||,T|splice_polypyrimidine_tract_variant&intron_variant&non_coding_transcript_variant|LOW|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||1/1|ENST00000432961.1:n.514-9G>A|||||||rs13303369||-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.4942|0.3079|0.4553|0.5853|0.6024|0.5685||||||||||0.5199|0.345|0.4989|0.4886|0.6118|0.6224|0.5697|0.4873|0.6083|0.5384|0.5843|0.6224|gnomADg_EAS|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs13303369|2547|1||SNV|||YES|||2||||||||||||||0.4942|0.3079|0.4553|0.5853|0.6024|0.5685||||||||||0.5199|0.345|0.4989|0.4886|0.6118|0.6224|0.5697|0.4873|0.6083|0.5384|0.5843|0.6224|gnomADg_EAS|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||||||||||rs13303369|1519|1||SNV|||YES|||4||||||||||||||0.4942|0.3079|0.4553|0.5853|0.6024|0.5685||||||||||0.5199|0.345|0.4989|0.4886|0.6118|0.6224|0.5697|0.4873|0.6083|0.5384|0.5843|0.6224|gnomADg_EAS|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron|1/1||ENST00000609207.1:n.3522G>A||3522|||||rs13303369||-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.4942|0.3079|0.4553|0.5853|0.6024|0.5685||||||||||0.5199|0.345|0.4989|0.4886|0.6118|0.6224|0.5697|0.4873|0.6083|0.5384|0.5843|0.6224|gnomADg_EAS|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918365|enhancer||||||||||rs13303369||||SNV||||||||||||||||||||0.4942|0.3079|0.4553|0.5853|0.6024|0.5685||||||||||0.5199|0.345|0.4989|0.4886|0.6118|0.6224|0.5697|0.4873|0.6083|0.5384|0.5843|0.6224|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:8,15:0.6:23:1,1:4,6:5,8:4,4,7,8 -chr1 917584 . T G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|8%2C5;DP=13;ECNT=1;GERMQ=78;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=97;POPAF=7.3;TLOD=47.3;SRC=snv;GRP=s001;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs4970461|2613|1||SNV|||YES|||3||||||||||||||0.7524|0.5363|0.7997|0.8433|0.7922|0.8763||||||||||0.7479|0.5813|0.8553|0.8049|0.8182|0.8511|0.7545|0.6879|0.8133|0.766|0.8744|0.8763|SAS|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA|4/4||ENST00000417705.1:n.675A>C||675|||||rs4970461||-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.7524|0.5363|0.7997|0.8433|0.7922|0.8763||||||||||0.7479|0.5813|0.8553|0.8049|0.8182|0.8511|0.7545|0.6879|0.8133|0.766|0.8744|0.8763|SAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||1/1|ENST00000432961.1:n.514-98A>C|||||||rs4970461||-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.7524|0.5363|0.7997|0.8433|0.7922|0.8763||||||||||0.7479|0.5813|0.8553|0.8049|0.8182|0.8511|0.7545|0.6879|0.8133|0.766|0.8744|0.8763|SAS|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs4970461|2636|1||SNV|||YES|||2||||||||||||||0.7524|0.5363|0.7997|0.8433|0.7922|0.8763||||||||||0.7479|0.5813|0.8553|0.8049|0.8182|0.8511|0.7545|0.6879|0.8133|0.766|0.8744|0.8763|SAS|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||||||||||rs4970461|1608|1||SNV|||YES|||4||||||||||||||0.7524|0.5363|0.7997|0.8433|0.7922|0.8763||||||||||0.7479|0.5813|0.8553|0.8049|0.8182|0.8511|0.7545|0.6879|0.8133|0.766|0.8744|0.8763|SAS|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron|1/1||ENST00000609207.1:n.3433A>C||3433|||||rs4970461||-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.7524|0.5363|0.7997|0.8433|0.7922|0.8763||||||||||0.7479|0.5813|0.8553|0.8049|0.8182|0.8511|0.7545|0.6879|0.8133|0.766|0.8744|0.8763|SAS|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918365|enhancer||||||||||rs4970461||||SNV||||||||||||||||||||0.7524|0.5363|0.7997|0.8433|0.7922|0.8763||||||||||0.7479|0.5813|0.8553|0.8049|0.8182|0.8511|0.7545|0.6879|0.8133|0.766|0.8744|0.8763|SAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,13:0.909:13:0,1:0,8:0,9:0,0,8,5 -chr1 917859 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C4|3%2C3;DP=13;ECNT=1;GERMQ=36;MBQ=32,31;MFRL=0,0;MMQ=60,60;MPOS=68;POPAF=7.3;TLOD=15.85;SRC=snv;GRP=s001;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs4970380|2888|1||SNV|||YES|||3||||||||||||||0.1579|0.0552|0.2291|0.1052|0.1879|0.2699||||||||||0.167|0.0776|0.3564|0.2138|0.1965|0.09703|0.1834|0.1867|0.2033|0.1773|0.2515|0.3564|gnomADg_AMI|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||3/3|ENST00000417705.1:n.539-139T>C|||||||rs4970380||-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.1579|0.0552|0.2291|0.1052|0.1879|0.2699||||||||||0.167|0.0776|0.3564|0.2138|0.1965|0.09703|0.1834|0.1867|0.2033|0.1773|0.2515|0.3564|gnomADg_AMI|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||1/1|ENST00000432961.1:n.513+163T>C|||||||rs4970380||-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.1579|0.0552|0.2291|0.1052|0.1879|0.2699||||||||||0.167|0.0776|0.3564|0.2138|0.1965|0.09703|0.1834|0.1867|0.2033|0.1773|0.2515|0.3564|gnomADg_AMI|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs4970380|2911|1||SNV|||YES|||2||||||||||||||0.1579|0.0552|0.2291|0.1052|0.1879|0.2699||||||||||0.167|0.0776|0.3564|0.2138|0.1965|0.09703|0.1834|0.1867|0.2033|0.1773|0.2515|0.3564|gnomADg_AMI|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||||||||||rs4970380|1883|1||SNV|||YES|||4||||||||||||||0.1579|0.0552|0.2291|0.1052|0.1879|0.2699||||||||||0.167|0.0776|0.3564|0.2138|0.1965|0.09703|0.1834|0.1867|0.2033|0.1773|0.2515|0.3564|gnomADg_AMI|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron|1/1||ENST00000609207.1:n.3158T>C||3158|||||rs4970380||-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.1579|0.0552|0.2291|0.1052|0.1879|0.2699||||||||||0.167|0.0776|0.3564|0.2138|0.1965|0.09703|0.1834|0.1867|0.2033|0.1773|0.2515|0.3564|gnomADg_AMI|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164799|enhancer||||||||||rs4970380||||SNV||||||||||||||||||||0.1579|0.0552|0.2291|0.1052|0.1879|0.2699||||||||||0.167|0.0776|0.3564|0.2138|0.1965|0.09703|0.1834|0.1867|0.2033|0.1773|0.2515|0.3564|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,6:0.4:13:2,0:3,3:5,3:3,4,3,3 -chr1 918443 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C0|2%2C2;DP=7;ECNT=1;GERMQ=36;MBQ=31,33;MFRL=0,0;MMQ=60,60;MPOS=96;POPAF=7.3;TLOD=13.13;SRC=snv;GRP=s001;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs1640632278|3472|1||SNV|||YES|||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||2/3|ENST00000417705.1:n.450-333G>T|||||||rs1640632278||-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron|1/2||ENST00000432961.1:n.92G>T||92|||||rs1640632278||-1||SNV|HGNC|HGNC:53933||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs1640632278|3495|1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||||||||||rs1640632278|2467|1||SNV|||YES|||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron|1/1||ENST00000609207.1:n.2574G>T||2574|||||rs1640632278||-1||SNV|HGNC|HGNC:53933|||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,4:0.571:6:0,0:2,2:2,3:2,0,2,2 -chr1 918574 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C2|2%2C3;DP=8;ECNT=1;GERMQ=36;MBQ=35,32;MFRL=0,0;MMQ=60,60;MPOS=20;POPAF=7.3;TLOD=16.2;SRC=snv;GRP=s001;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs1806509|3603|1||SNV|||YES|||3||||||||||||||0.4956|0.3116|0.4553|0.5863|0.6034|0.5685||||||||||0.52|0.3459|0.4989|0.4889|0.6122|0.6214|0.5686|0.4873|0.6083|0.5388|0.5842|0.6214|gnomADg_EAS|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||2/3|ENST00000417705.1:n.449+251G>T|||||||rs1806509||-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.4956|0.3116|0.4553|0.5863|0.6034|0.5685||||||||||0.52|0.3459|0.4989|0.4889|0.6122|0.6214|0.5686|0.4873|0.6083|0.5388|0.5842|0.6214|gnomADg_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||||||||||rs1806509|40|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.4956|0.3116|0.4553|0.5863|0.6034|0.5685||||||||||0.52|0.3459|0.4989|0.4889|0.6122|0.6214|0.5686|0.4873|0.6083|0.5388|0.5842|0.6214|gnomADg_EAS|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs1806509|3626|1||SNV|||YES|||2||||||||||||||0.4956|0.3116|0.4553|0.5863|0.6034|0.5685||||||||||0.52|0.3459|0.4989|0.4889|0.6122|0.6214|0.5686|0.4873|0.6083|0.5388|0.5842|0.6214|gnomADg_EAS|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||||||||||rs1806509|2598|1||SNV|||YES|||4||||||||||||||0.4956|0.3116|0.4553|0.5863|0.6034|0.5685||||||||||0.52|0.3459|0.4989|0.4889|0.6122|0.6214|0.5686|0.4873|0.6083|0.5388|0.5842|0.6214|gnomADg_EAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron|1/1||ENST00000609207.1:n.2443G>T||2443|||||rs1806509||-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.4956|0.3116|0.4553|0.5863|0.6034|0.5685||||||||||0.52|0.3459|0.4989|0.4889|0.6122|0.6214|0.5686|0.4873|0.6083|0.5388|0.5842|0.6214|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,5:0.571:8:1,1:1,2:2,3:1,2,2,3 -chr1 918870 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C2|2%2C2;DP=8;ECNT=2;GERMQ=36;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=80;POPAF=7.3;TLOD=13.53;SRC=snv;GRP=s001;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs7537756|3899|1||SNV|||YES|||3||||||||||||||0.2157|0.2511|0.2536|0.1131|0.1928|0.2699||||||||||0.2201|0.2572|0.3553|0.2377|0.2005|0.1029|0.1828|0.1994|0.2052|0.2208|0.2522|0.3553|gnomADg_AMI|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA|2/4||ENST00000417705.1:n.404T>C||404|||||rs7537756||-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.2157|0.2511|0.2536|0.1131|0.1928|0.2699||||||||||0.2201|0.2572|0.3553|0.2377|0.2005|0.1029|0.1828|0.1994|0.2052|0.2208|0.2522|0.3553|gnomADg_AMI|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||||||||||rs7537756|336|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.2157|0.2511|0.2536|0.1131|0.1928|0.2699||||||||||0.2201|0.2572|0.3553|0.2377|0.2005|0.1029|0.1828|0.1994|0.2052|0.2208|0.2522|0.3553|gnomADg_AMI|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs7537756|3922|1||SNV|||YES|||2||||||||||||||0.2157|0.2511|0.2536|0.1131|0.1928|0.2699||||||||||0.2201|0.2572|0.3553|0.2377|0.2005|0.1029|0.1828|0.1994|0.2052|0.2208|0.2522|0.3553|gnomADg_AMI|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||||||||||rs7537756|2894|1||SNV|||YES|||4||||||||||||||0.2157|0.2511|0.2536|0.1131|0.1928|0.2699||||||||||0.2201|0.2572|0.3553|0.2377|0.2005|0.1029|0.1828|0.1994|0.2052|0.2208|0.2522|0.3553|gnomADg_AMI|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron|1/1||ENST00000609207.1:n.2147T>C||2147|||||rs7537756||-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.2157|0.2511|0.2536|0.1131|0.1928|0.2699||||||||||0.2201|0.2572|0.3553|0.2377|0.2005|0.1029|0.1828|0.1994|0.2052|0.2208|0.2522|0.3553|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:4,4:0.429:8:0,0:2,2:3,2:0|1:918870_A_G:918870:2,2,2,2 -chr1 918888 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C2|1%2C1;DP=9;ECNT=2;GERMQ=40;MBQ=32,32;MFRL=0,0;MMQ=60,60;MPOS=81;POPAF=7.3;TLOD=5.92;SRC=snv;GRP=s001;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA|||||||||||3917|1||SNV|||YES|||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA|2/4||ENST00000417705.1:n.386A>G||386|||||||-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron|||||||||||354|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA|||||||||||3940|1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA|||||||||||2912|1||SNV|||YES|||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron|1/1||ENST00000609207.1:n.2129A>G||2129|||||||-1||SNV|HGNC|HGNC:53933|||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 1|0:5,2:0.329:7:0,0:3,1:3,1:1|0:918870_A_G:918870:3,2,1,1 -chr1 919297 . A T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C4|1%2C1;DP=9;ECNT=1;GERMQ=43;MBQ=32,31;MFRL=0,0;MMQ=60,60;MPOS=113;POPAF=7.3;TLOD=5.87;SRC=snv;GRP=s001;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA|||||||||||4326|1||SNV|||YES|||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||1/3|ENST00000417705.1:n.358+38T>A|||||||||-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron|||||||||||763|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA|||||||||||4349|1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA|||||||||||3321|1||SNV|||YES|||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron|1/1||ENST00000609207.1:n.1720T>A||1720|||||||-1||SNV|HGNC|HGNC:53933||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding|||||||||||4626|1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||||||||||||||||||||||||||||||||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding|||||||||||4626|1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||||||||||||||||||||||||||||||||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918366|CTCF_binding_site||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,2:0.286:9:0,0:3,1:4,1:3,4,1,1 -chr1 919397 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|6%2C6;DP=14;ECNT=1;GERMQ=48;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=75;POPAF=7.3;TLOD=43.57;SRC=snv;GRP=s001;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs13303019|4426|1||SNV|||YES|||3||||||||||||||0.6619|0.7194|0.6009|0.7361|0.6113|0.6033||||||||||0.64|0.7011|0.5|0.6222|0.6262|0.7557|0.5716|0.5348|0.6132|0.6401|0.6176|0.7557|gnomADg_EAS|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA|1/4||ENST00000417705.1:n.296T>C||296|||||rs13303019||-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.6619|0.7194|0.6009|0.7361|0.6113|0.6033||||||||||0.64|0.7011|0.5|0.6222|0.6262|0.7557|0.5716|0.5348|0.6132|0.6401|0.6176|0.7557|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||||||||||rs13303019|863|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.6619|0.7194|0.6009|0.7361|0.6113|0.6033||||||||||0.64|0.7011|0.5|0.6222|0.6262|0.7557|0.5716|0.5348|0.6132|0.6401|0.6176|0.7557|gnomADg_EAS|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs13303019|4449|1||SNV|||YES|||2||||||||||||||0.6619|0.7194|0.6009|0.7361|0.6113|0.6033||||||||||0.64|0.7011|0.5|0.6222|0.6262|0.7557|0.5716|0.5348|0.6132|0.6401|0.6176|0.7557|gnomADg_EAS|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||||||||||rs13303019|3421|1||SNV|||YES|||4||||||||||||||0.6619|0.7194|0.6009|0.7361|0.6113|0.6033||||||||||0.64|0.7011|0.5|0.6222|0.6262|0.7557|0.5716|0.5348|0.6132|0.6401|0.6176|0.7557|gnomADg_EAS|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron|1/1||ENST00000609207.1:n.1620T>C||1620|||||rs13303019||-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.6619|0.7194|0.6009|0.7361|0.6113|0.6033||||||||||0.64|0.7011|0.5|0.6222|0.6262|0.7557|0.5716|0.5348|0.6132|0.6401|0.6176|0.7557|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||||||||||rs13303019|4526|1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.6619|0.7194|0.6009|0.7361|0.6113|0.6033||||||||||0.64|0.7011|0.5|0.6222|0.6262|0.7557|0.5716|0.5348|0.6132|0.6401|0.6176|0.7557|gnomADg_EAS|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||||||||||rs13303019|4526|1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.6619|0.7194|0.6009|0.7361|0.6113|0.6033||||||||||0.64|0.7011|0.5|0.6222|0.6262|0.7557|0.5716|0.5348|0.6132|0.6401|0.6176|0.7557|gnomADg_EAS|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918366|CTCF_binding_site||||||||||rs13303019||||SNV||||||||||||||||||||0.6619|0.7194|0.6009|0.7361|0.6113|0.6033||||||||||0.64|0.7011|0.5|0.6222|0.6262|0.7557|0.5716|0.5348|0.6132|0.6401|0.6176|0.7557|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,12:0.778:14:0,0:1,6:1,6:1,1,6,6 -chr1 919598 . A C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5%2C6|4%2C4;DP=19;ECNT=1;GERMQ=36;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=52;POPAF=7.3;TLOD=26.45;SRC=snv;GRP=s001;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs13303057|4627|1||SNV|||YES|||3||||||||||||||0.4946|0.3132|0.4524|0.5863|0.5994|0.5675||||||||||0.5198|0.3527|0.4989|0.4846|0.6052|0.6212|0.5772|0.4842|0.604|0.5368|0.5827|0.6212|gnomADg_EAS|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA|1/4||ENST00000417705.1:n.95T>G||95|||||rs13303057||-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.4946|0.3132|0.4524|0.5863|0.5994|0.5675||||||||||0.5198|0.3527|0.4989|0.4846|0.6052|0.6212|0.5772|0.4842|0.604|0.5368|0.5827|0.6212|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||||||||||rs13303057|1064|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.4946|0.3132|0.4524|0.5863|0.5994|0.5675||||||||||0.5198|0.3527|0.4989|0.4846|0.6052|0.6212|0.5772|0.4842|0.604|0.5368|0.5827|0.6212|gnomADg_EAS|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs13303057|4650|1||SNV|||YES|||2||||||||||||||0.4946|0.3132|0.4524|0.5863|0.5994|0.5675||||||||||0.5198|0.3527|0.4989|0.4846|0.6052|0.6212|0.5772|0.4842|0.604|0.5368|0.5827|0.6212|gnomADg_EAS|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||||||||||rs13303057|3622|1||SNV|||YES|||4||||||||||||||0.4946|0.3132|0.4524|0.5863|0.5994|0.5675||||||||||0.5198|0.3527|0.4989|0.4846|0.6052|0.6212|0.5772|0.4842|0.604|0.5368|0.5827|0.6212|gnomADg_EAS|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron|1/1||ENST00000609207.1:n.1419T>G||1419|||||rs13303057||-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.4946|0.3132|0.4524|0.5863|0.5994|0.5675||||||||||0.5198|0.3527|0.4989|0.4846|0.6052|0.6212|0.5772|0.4842|0.604|0.5368|0.5827|0.6212|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||||||||||rs13303057|4325|1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.4946|0.3132|0.4524|0.5863|0.5994|0.5675||||||||||0.5198|0.3527|0.4989|0.4846|0.6052|0.6212|0.5772|0.4842|0.604|0.5368|0.5827|0.6212|gnomADg_EAS|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||||||||||rs13303057|4325|1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.4946|0.3132|0.4524|0.5863|0.5994|0.5675||||||||||0.5198|0.3527|0.4989|0.4846|0.6052|0.6212|0.5772|0.4842|0.604|0.5368|0.5827|0.6212|gnomADg_EAS|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918366|CTCF_binding_site||||||||||rs13303057||||SNV||||||||||||||||||||0.4946|0.3132|0.4524|0.5863|0.5994|0.5675||||||||||0.5198|0.3527|0.4989|0.4846|0.6052|0.6212|0.5772|0.4842|0.604|0.5368|0.5827|0.6212|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:11,8:0.417:19:1,0:5,4:6,4:5,6,4,4 -chr1 919695 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C3|1%2C2;DP=8;ECNT=1;GERMQ=37;MBQ=35,34;MFRL=0,0;MMQ=60,60;MPOS=84;POPAF=7.3;TLOD=9.51;SRC=snv;GRP=s001;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000241180|Transcript|ENST00000398216|lncRNA||||||||||rs6673914|4724|1||SNV|||YES|||3||||||||||||||0.6562|0.7012|0.6023|0.7272|0.6113|0.6063||||||||||0.6341|0.6816|0.4989|0.6205|0.626|0.748|0.5711|0.5316|0.6132|0.6373|0.6184|0.748|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs6673914|3|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.6562|0.7012|0.6023|0.7272|0.6113|0.6063||||||||||0.6341|0.6816|0.4989|0.6205|0.626|0.748|0.5711|0.5316|0.6132|0.6373|0.6184|0.748|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||||||||||rs6673914|1161|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.6562|0.7012|0.6023|0.7272|0.6113|0.6063||||||||||0.6341|0.6816|0.4989|0.6205|0.626|0.748|0.5711|0.5316|0.6132|0.6373|0.6184|0.748|gnomADg_EAS|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000230699|Transcript|ENST00000448179|lncRNA||||||||||rs6673914|4747|1||SNV|||YES|||2||||||||||||||0.6562|0.7012|0.6023|0.7272|0.6113|0.6063||||||||||0.6341|0.6816|0.4989|0.6205|0.626|0.748|0.5711|0.5316|0.6132|0.6373|0.6184|0.748|gnomADg_EAS|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||||||||||rs6673914|3719|1||SNV|||YES|||4||||||||||||||0.6562|0.7012|0.6023|0.7272|0.6113|0.6063||||||||||0.6341|0.6816|0.4989|0.6205|0.626|0.748|0.5711|0.5316|0.6132|0.6373|0.6184|0.748|gnomADg_EAS|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron|1/1||ENST00000609207.1:n.1322G>C||1322|||||rs6673914||-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.6562|0.7012|0.6023|0.7272|0.6113|0.6063||||||||||0.6341|0.6816|0.4989|0.6205|0.626|0.748|0.5711|0.5316|0.6132|0.6373|0.6184|0.748|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||||||||||rs6673914|4228|1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.6562|0.7012|0.6023|0.7272|0.6113|0.6063||||||||||0.6341|0.6816|0.4989|0.6205|0.626|0.748|0.5711|0.5316|0.6132|0.6373|0.6184|0.748|gnomADg_EAS|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||||||||||rs6673914|4228|1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.6562|0.7012|0.6023|0.7272|0.6113|0.6063||||||||||0.6341|0.6816|0.4989|0.6205|0.626|0.748|0.5711|0.5316|0.6132|0.6373|0.6184|0.748|gnomADg_EAS|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918366|CTCF_binding_site||||||||||rs6673914||||SNV||||||||||||||||||||0.6562|0.7012|0.6023|0.7272|0.6113|0.6063||||||||||0.6341|0.6816|0.4989|0.6205|0.626|0.748|0.5711|0.5316|0.6132|0.6373|0.6184|0.748|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,3:0.429:7:1,1:1,1:3,2:1,3,1,2 -chr1 920331 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=11%2C8|1%2C1;DP=22;ECNT=1;GERMQ=69;MBQ=35,30;MFRL=0,0;MMQ=60,60;MPOS=59;POPAF=7.3;TLOD=4.75;SRC=snv;GRP=s001;CSQ=G|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA|||||||||||639|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron|||||||||||1797|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding|||||||||||4819|1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,G|downstream_gene_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA|||||||||||4355|1||SNV|||YES|||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron|1/1||ENST00000609207.1:n.686G>C||686|||||||-1||SNV|HGNC|HGNC:53933||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding|||||||||||3592|1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||||||||||||||||||||||||||||||||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding|||||||||||3592|1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||||||||||||||||||||||||||||||||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:19,2:0.141:21:0,0:11,1:11,1:11,8,1,1 -chr1 920719 . T G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5%2C6|3%2C4;DP=18;ECNT=2;GERMQ=37;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=55;POPAF=7.3;TLOD=28.14;SRC=snv;GRP=s001;CSQ=G|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs28534711|1027|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.3508|0.3222|0.4006|0.2718|0.3887|0.3967||||||||||0.3706|0.3355|0.4989|0.3813|0.3743|0.252|0.4278|0.4905|0.3864|0.3677|0.3838|0.4989|gnomADg_AMI|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||||||||||rs28534711|2185|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.3508|0.3222|0.4006|0.2718|0.3887|0.3967||||||||||0.3706|0.3355|0.4989|0.3813|0.3743|0.252|0.4278|0.4905|0.3864|0.3677|0.3838|0.4989|gnomADg_AMI|||||||||||||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||||||||||rs28534711|4431|1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.3508|0.3222|0.4006|0.2718|0.3887|0.3967||||||||||0.3706|0.3355|0.4989|0.3813|0.3743|0.252|0.4278|0.4905|0.3864|0.3677|0.3838|0.4989|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,G|downstream_gene_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||||||||||rs28534711|4743|1||SNV|||YES|||4||||||||||||||0.3508|0.3222|0.4006|0.2718|0.3887|0.3967||||||||||0.3706|0.3355|0.4989|0.3813|0.3743|0.252|0.4278|0.4905|0.3864|0.3677|0.3838|0.4989|gnomADg_AMI|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron|1/1||ENST00000609207.1:n.298A>C||298|||||rs28534711||-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.3508|0.3222|0.4006|0.2718|0.3887|0.3967||||||||||0.3706|0.3355|0.4989|0.3813|0.3743|0.252|0.4278|0.4905|0.3864|0.3677|0.3838|0.4989|gnomADg_AMI|||||||||||||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||||||||||rs28534711|3204|1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.3508|0.3222|0.4006|0.2718|0.3887|0.3967||||||||||0.3706|0.3355|0.4989|0.3813|0.3743|0.252|0.4278|0.4905|0.3864|0.3677|0.3838|0.4989|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||||||||||rs28534711|3204|1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.3508|0.3222|0.4006|0.2718|0.3887|0.3967||||||||||0.3706|0.3355|0.4989|0.3813|0.3743|0.252|0.4278|0.4905|0.3864|0.3677|0.3838|0.4989|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:11,7:0.417:18:1,1:5,3:6,4:0|1:920719_T_G:920719:5,6,3,4 -chr1 920728 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5%2C6|3%2C4;DP=18;ECNT=2;GERMQ=37;MBQ=32,32;MFRL=0,0;MMQ=60,60;MPOS=61;POPAF=7.3;TLOD=28.14;SRC=snv;GRP=s001;CSQ=G|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs28742275|1036|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.3508|0.3222|0.4006|0.2718|0.3887|0.3967||||||||||0.3707|0.3358|0.5|0.3818|0.3735|0.252|0.428|0.4905|0.3864|0.3677|0.3835|0.5|gnomADg_AMI|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||||||||||rs28742275|2194|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.3508|0.3222|0.4006|0.2718|0.3887|0.3967||||||||||0.3707|0.3358|0.5|0.3818|0.3735|0.252|0.428|0.4905|0.3864|0.3677|0.3835|0.5|gnomADg_AMI|||||||||||||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||||||||||rs28742275|4422|1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.3508|0.3222|0.4006|0.2718|0.3887|0.3967||||||||||0.3707|0.3358|0.5|0.3818|0.3735|0.252|0.428|0.4905|0.3864|0.3677|0.3835|0.5|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,G|downstream_gene_variant|MODIFIER||ENSG00000272438|Transcript|ENST00000607769|lncRNA||||||||||rs28742275|4752|1||SNV|||YES|||4||||||||||||||0.3508|0.3222|0.4006|0.2718|0.3887|0.3967||||||||||0.3707|0.3358|0.5|0.3818|0.3735|0.252|0.428|0.4905|0.3864|0.3677|0.3835|0.5|gnomADg_AMI|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron|1/1||ENST00000609207.1:n.289T>C||289|||||rs28742275||-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.3508|0.3222|0.4006|0.2718|0.3887|0.3967||||||||||0.3707|0.3358|0.5|0.3818|0.3735|0.252|0.428|0.4905|0.3864|0.3677|0.3835|0.5|gnomADg_AMI|||||||||||||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||||||||||rs28742275|3195|1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.3508|0.3222|0.4006|0.2718|0.3887|0.3967||||||||||0.3707|0.3358|0.5|0.3818|0.3735|0.252|0.428|0.4905|0.3864|0.3677|0.3835|0.5|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||||||||||rs28742275|3195|1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.3508|0.3222|0.4006|0.2718|0.3887|0.3967||||||||||0.3707|0.3358|0.5|0.3818|0.3735|0.252|0.428|0.4905|0.3864|0.3677|0.3835|0.5|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:11,7:0.417:18:1,1:5,3:6,4:0|1:920719_T_G:920719:5,6,3,4 -chr1 921096 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C2|2%2C1;DP=7;ECNT=2;GERMQ=37;MBQ=31,31;MFRL=0,0;MMQ=60,60;MPOS=58;POPAF=7.3;TLOD=7;SRC=snv;GRP=s001;CSQ=G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||||||||||rs4040605|4635|1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.5034|0.7322|0.5331|0.4147|0.3559|0.4162||||||||||0.4672|0.6794|0.4923|0.4987|0.3694|0.3747|0.4159|0.4873|0.3555|0.4516|0.404|0.7322|AFR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs4040605|1404|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.5034|0.7322|0.5331|0.4147|0.3559|0.4162||||||||||0.4672|0.6794|0.4923|0.4987|0.3694|0.3747|0.4159|0.4873|0.3555|0.4516|0.404|0.7322|AFR|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||||||||||rs4040605|2562|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.5034|0.7322|0.5331|0.4147|0.3559|0.4162||||||||||0.4672|0.6794|0.4923|0.4987|0.3694|0.3747|0.4159|0.4873|0.3555|0.4516|0.404|0.7322|AFR|||||||||||||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||||||||||rs4040605|4054|1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.5034|0.7322|0.5331|0.4147|0.3559|0.4162||||||||||0.4672|0.6794|0.4923|0.4987|0.3694|0.3747|0.4159|0.4873|0.3555|0.4516|0.404|0.7322|AFR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,G|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs4040605|80|-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.5034|0.7322|0.5331|0.4147|0.3559|0.4162||||||||||0.4672|0.6794|0.4923|0.4987|0.3694|0.3747|0.4159|0.4873|0.3555|0.4516|0.404|0.7322|AFR|||||||||||||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||||||||||rs4040605|2827|1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.5034|0.7322|0.5331|0.4147|0.3559|0.4162||||||||||0.4672|0.6794|0.4923|0.4987|0.3694|0.3747|0.4159|0.4873|0.3555|0.4516|0.404|0.7322|AFR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||||||||||rs4040605|4846|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.5034|0.7322|0.5331|0.4147|0.3559|0.4162||||||||||0.4672|0.6794|0.4923|0.4987|0.3694|0.3747|0.4159|0.4873|0.3555|0.4516|0.404|0.7322|AFR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||||||||||rs4040605|4846|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.5034|0.7322|0.5331|0.4147|0.3559|0.4162||||||||||0.4672|0.6794|0.4923|0.4987|0.3694|0.3747|0.4159|0.4873|0.3555|0.4516|0.404|0.7322|AFR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||||||||||rs4040605|4846|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.5034|0.7322|0.5331|0.4147|0.3559|0.4162||||||||||0.4672|0.6794|0.4923|0.4987|0.3694|0.3747|0.4159|0.4873|0.3555|0.4516|0.404|0.7322|AFR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||||||||||rs4040605|2827|1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.5034|0.7322|0.5331|0.4147|0.3559|0.4162||||||||||0.4672|0.6794|0.4923|0.4987|0.3694|0.3747|0.4159|0.4873|0.3555|0.4516|0.404|0.7322|AFR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||||||||||rs4040605|4846|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.5034|0.7322|0.5331|0.4147|0.3559|0.4162||||||||||0.4672|0.6794|0.4923|0.4987|0.3694|0.3747|0.4159|0.4873|0.3555|0.4516|0.404|0.7322|AFR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||||||||||rs4040605|4846|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.5034|0.7322|0.5331|0.4147|0.3559|0.4162||||||||||0.4672|0.6794|0.4923|0.4987|0.3694|0.3747|0.4159|0.4873|0.3555|0.4516|0.404|0.7322|AFR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000249804|promoter||||||||||rs4040605||||SNV||||||||||||||||||||0.5034|0.7322|0.5331|0.4147|0.3559|0.4162||||||||||0.4672|0.6794|0.4923|0.4987|0.3694|0.3747|0.4159|0.4873|0.3555|0.4516|0.404|0.7322|AFR|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344429|CTCF_binding_site||||||||||rs4040605||||SNV||||||||||||||||||||0.5034|0.7322|0.5331|0.4147|0.3559|0.4162||||||||||0.4672|0.6794|0.4923|0.4987|0.3694|0.3747|0.4159|0.4873|0.3555|0.4516|0.404|0.7322|AFR|||||||||||||,G|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00522326553|||||||||||rs4040605||1||SNV||||||||||||||||||||0.5034|0.7322|0.5331|0.4147|0.3559|0.4162||||||||||0.4672|0.6794|0.4923|0.4987|0.3694|0.3747|0.4159|0.4873|0.3555|0.4516|0.404|0.7322|AFR|||||ENSPFM0596|15|N|-0.002|TFAP2C::MAX|||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,3:0.5:7:0,0:2,2:2,2:2,2,2,1 -chr1 922226 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C2|1%2C1;DP=7;ECNT=1;GERMQ=40;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=80;POPAF=7.3;TLOD=6.25;SRC=snv;GRP=s001;CSQ=T|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding|||||||||||3505|1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA|||||||||||2534|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron|||||||||||3692|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding|||||||||||2924|1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,T|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron|||||||||||1210|-1||SNV|HGNC|HGNC:53933||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding|||||||||||1697|1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||||||||||||||||||||||||||||||||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding|||||||||||3716|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding|||||||||||3716|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding|||||||||||3716|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding|||||||||||1697|1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||||||||||||||||||||||||||||||||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding|||||||||||3716|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding|||||||||||3716|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:5,2:0.333:7:0,0:3,1:3,1:3,2,1,1 -chr1 922348 . T G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C0|5%2C5;DP=11;ECNT=1;GERMQ=53;MBQ=31,34;MFRL=0,0;MMQ=60,60;MPOS=76;POPAF=7.3;TLOD=37.44;SRC=snv;GRP=s001;CSQ=G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||||||||||rs6689107|3383|1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.9543|0.8336|0.9928|1|0.996|1||||||||||0.955|0.8569|1|0.9766|0.9931|0.9992|0.9953|0.9968|0.9944|0.9617|0.9963|1|EAS&SAS&gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs6689107|2656|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.9543|0.8336|0.9928|1|0.996|1||||||||||0.955|0.8569|1|0.9766|0.9931|0.9992|0.9953|0.9968|0.9944|0.9617|0.9963|1|EAS&SAS&gnomADg_AMI|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||||||||||rs6689107|3814|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.9543|0.8336|0.9928|1|0.996|1||||||||||0.955|0.8569|1|0.9766|0.9931|0.9992|0.9953|0.9968|0.9944|0.9617|0.9963|1|EAS&SAS&gnomADg_AMI|||||||||||||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||||||||||rs6689107|2802|1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.9543|0.8336|0.9928|1|0.996|1||||||||||0.955|0.8569|1|0.9766|0.9931|0.9992|0.9953|0.9968|0.9944|0.9617|0.9963|1|EAS&SAS&gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,G|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs6689107|1332|-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.9543|0.8336|0.9928|1|0.996|1||||||||||0.955|0.8569|1|0.9766|0.9931|0.9992|0.9953|0.9968|0.9944|0.9617|0.9963|1|EAS&SAS&gnomADg_AMI|||||||||||||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||||||||||rs6689107|1575|1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.9543|0.8336|0.9928|1|0.996|1||||||||||0.955|0.8569|1|0.9766|0.9931|0.9992|0.9953|0.9968|0.9944|0.9617|0.9963|1|EAS&SAS&gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||||||||||rs6689107|3594|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.9543|0.8336|0.9928|1|0.996|1||||||||||0.955|0.8569|1|0.9766|0.9931|0.9992|0.9953|0.9968|0.9944|0.9617|0.9963|1|EAS&SAS&gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||||||||||rs6689107|3594|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.9543|0.8336|0.9928|1|0.996|1||||||||||0.955|0.8569|1|0.9766|0.9931|0.9992|0.9953|0.9968|0.9944|0.9617|0.9963|1|EAS&SAS&gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||||||||||rs6689107|3594|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.9543|0.8336|0.9928|1|0.996|1||||||||||0.955|0.8569|1|0.9766|0.9931|0.9992|0.9953|0.9968|0.9944|0.9617|0.9963|1|EAS&SAS&gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||||||||||rs6689107|1575|1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.9543|0.8336|0.9928|1|0.996|1||||||||||0.955|0.8569|1|0.9766|0.9931|0.9992|0.9953|0.9968|0.9944|0.9617|0.9963|1|EAS&SAS&gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||||||||||rs6689107|3594|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.9543|0.8336|0.9928|1|0.996|1||||||||||0.955|0.8569|1|0.9766|0.9931|0.9992|0.9953|0.9968|0.9944|0.9617|0.9963|1|EAS&SAS&gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||||||||||rs6689107|3594|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.9543|0.8336|0.9928|1|0.996|1||||||||||0.955|0.8569|1|0.9766|0.9931|0.9992|0.9953|0.9968|0.9944|0.9617|0.9963|1|EAS&SAS&gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,10:0.778:11:0,1:1,5:1,6:1,0,5,5 -chr1 922660 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C1;DP=3;ECNT=2;GERMQ=49;MBQ=0,29;MFRL=0,0;MMQ=60,60;MPOS=57;POPAF=7.3;TLOD=10.15;SRC=snv;GRP=s001;CSQ=A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||||||||||rs4970460|3071|1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.1639|0.0393|0.2435|0.1478|0.2058|0.2495||||||||||0.1718|0.06674|0.3868|0.2211|0.2205|0.1403|0.1937|0.1911|0.2132|0.1829|0.2391|0.3868|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs4970460|2968|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.1639|0.0393|0.2435|0.1478|0.2058|0.2495||||||||||0.1718|0.06674|0.3868|0.2211|0.2205|0.1403|0.1937|0.1911|0.2132|0.1829|0.2391|0.3868|gnomADg_AMI|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||||||||||rs4970460|4126|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.1639|0.0393|0.2435|0.1478|0.2058|0.2495||||||||||0.1718|0.06674|0.3868|0.2211|0.2205|0.1403|0.1937|0.1911|0.2132|0.1829|0.2391|0.3868|gnomADg_AMI|||||||||||||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||||||||||rs4970460|2490|1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.1639|0.0393|0.2435|0.1478|0.2058|0.2495||||||||||0.1718|0.06674|0.3868|0.2211|0.2205|0.1403|0.1937|0.1911|0.2132|0.1829|0.2391|0.3868|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,A|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs4970460|1644|-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.1639|0.0393|0.2435|0.1478|0.2058|0.2495||||||||||0.1718|0.06674|0.3868|0.2211|0.2205|0.1403|0.1937|0.1911|0.2132|0.1829|0.2391|0.3868|gnomADg_AMI|||||||||||||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||||||||||rs4970460|1263|1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.1639|0.0393|0.2435|0.1478|0.2058|0.2495||||||||||0.1718|0.06674|0.3868|0.2211|0.2205|0.1403|0.1937|0.1911|0.2132|0.1829|0.2391|0.3868|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||||||||||rs4970460|3282|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.1639|0.0393|0.2435|0.1478|0.2058|0.2495||||||||||0.1718|0.06674|0.3868|0.2211|0.2205|0.1403|0.1937|0.1911|0.2132|0.1829|0.2391|0.3868|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||||||||||rs4970460|3282|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.1639|0.0393|0.2435|0.1478|0.2058|0.2495||||||||||0.1718|0.06674|0.3868|0.2211|0.2205|0.1403|0.1937|0.1911|0.2132|0.1829|0.2391|0.3868|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||||||||||rs4970460|3282|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.1639|0.0393|0.2435|0.1478|0.2058|0.2495||||||||||0.1718|0.06674|0.3868|0.2211|0.2205|0.1403|0.1937|0.1911|0.2132|0.1829|0.2391|0.3868|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||||||||||rs4970460|1263|1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.1639|0.0393|0.2435|0.1478|0.2058|0.2495||||||||||0.1718|0.06674|0.3868|0.2211|0.2205|0.1403|0.1937|0.1911|0.2132|0.1829|0.2391|0.3868|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||||||||||rs4970460|3282|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.1639|0.0393|0.2435|0.1478|0.2058|0.2495||||||||||0.1718|0.06674|0.3868|0.2211|0.2205|0.1403|0.1937|0.1911|0.2132|0.1829|0.2391|0.3868|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||||||||||rs4970460|3282|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.1639|0.0393|0.2435|0.1478|0.2058|0.2495||||||||||0.1718|0.06674|0.3868|0.2211|0.2205|0.1403|0.1937|0.1911|0.2132|0.1829|0.2391|0.3868|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164800|open_chromatin_region||||||||||rs4970460||||SNV||||||||||||||||||||0.1639|0.0393|0.2435|0.1478|0.2058|0.2495||||||||||0.1718|0.06674|0.3868|0.2211|0.2205|0.1403|0.1937|0.1911|0.2132|0.1829|0.2391|0.3868|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,0:0,2:0,2:0,0,2,1 -chr1 922671 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C1;DP=3;ECNT=2;GERMQ=49;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=46;POPAF=7.3;TLOD=10.65;SRC=snv;GRP=s001;CSQ=T|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||||||||||rs4970459|3060|1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.1691|0.059|0.2435|0.1478|0.2058|0.2495||||||||||0.1756|0.07905|0.3877|0.2211|0.2209|0.1407|0.1948|0.193|0.2138|0.188|0.2391|0.3877|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs4970459|2979|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.1691|0.059|0.2435|0.1478|0.2058|0.2495||||||||||0.1756|0.07905|0.3877|0.2211|0.2209|0.1407|0.1948|0.193|0.2138|0.188|0.2391|0.3877|gnomADg_AMI|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||||||||||rs4970459|4137|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.1691|0.059|0.2435|0.1478|0.2058|0.2495||||||||||0.1756|0.07905|0.3877|0.2211|0.2209|0.1407|0.1948|0.193|0.2138|0.188|0.2391|0.3877|gnomADg_AMI|||||||||||||,T|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||||||||||rs4970459|2479|1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.1691|0.059|0.2435|0.1478|0.2058|0.2495||||||||||0.1756|0.07905|0.3877|0.2211|0.2209|0.1407|0.1948|0.193|0.2138|0.188|0.2391|0.3877|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,T|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs4970459|1655|-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.1691|0.059|0.2435|0.1478|0.2058|0.2495||||||||||0.1756|0.07905|0.3877|0.2211|0.2209|0.1407|0.1948|0.193|0.2138|0.188|0.2391|0.3877|gnomADg_AMI|||||||||||||,T|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||||||||||rs4970459|1252|1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.1691|0.059|0.2435|0.1478|0.2058|0.2495||||||||||0.1756|0.07905|0.3877|0.2211|0.2209|0.1407|0.1948|0.193|0.2138|0.188|0.2391|0.3877|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||||||||||rs4970459|3271|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.1691|0.059|0.2435|0.1478|0.2058|0.2495||||||||||0.1756|0.07905|0.3877|0.2211|0.2209|0.1407|0.1948|0.193|0.2138|0.188|0.2391|0.3877|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||||||||||rs4970459|3271|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.1691|0.059|0.2435|0.1478|0.2058|0.2495||||||||||0.1756|0.07905|0.3877|0.2211|0.2209|0.1407|0.1948|0.193|0.2138|0.188|0.2391|0.3877|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||||||||||rs4970459|3271|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.1691|0.059|0.2435|0.1478|0.2058|0.2495||||||||||0.1756|0.07905|0.3877|0.2211|0.2209|0.1407|0.1948|0.193|0.2138|0.188|0.2391|0.3877|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||||||||||rs4970459|1252|1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.1691|0.059|0.2435|0.1478|0.2058|0.2495||||||||||0.1756|0.07905|0.3877|0.2211|0.2209|0.1407|0.1948|0.193|0.2138|0.188|0.2391|0.3877|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||||||||||rs4970459|3271|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.1691|0.059|0.2435|0.1478|0.2058|0.2495||||||||||0.1756|0.07905|0.3877|0.2211|0.2209|0.1407|0.1948|0.193|0.2138|0.188|0.2391|0.3877|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||||||||||rs4970459|3271|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.1691|0.059|0.2435|0.1478|0.2058|0.2495||||||||||0.1756|0.07905|0.3877|0.2211|0.2209|0.1407|0.1948|0.193|0.2138|0.188|0.2391|0.3877|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164800|open_chromatin_region||||||||||rs4970459||||SNV||||||||||||||||||||0.1691|0.059|0.2435|0.1478|0.2058|0.2495||||||||||0.1756|0.07905|0.3877|0.2211|0.2209|0.1407|0.1948|0.193|0.2138|0.188|0.2391|0.3877|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,0:0,2:0,2:0,0,2,1 -chr1 923421 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=41;POPAF=7.3;TLOD=3.48;SRC=snv;GRP=s001;CSQ=G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||||||||||rs7418179|2310|1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.5130|0.2678|0.5879|0.4415|0.7753|0.5951||||||||||0.6099|0.3233|0.5813|0.6023|0.7328|0.4675|0.7736|0.7389|0.7636|0.6342|0.6155|0.7753|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs7418179|3729|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.5130|0.2678|0.5879|0.4415|0.7753|0.5951||||||||||0.6099|0.3233|0.5813|0.6023|0.7328|0.4675|0.7736|0.7389|0.7636|0.6342|0.6155|0.7753|EUR|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000432961|retained_intron||||||||||rs7418179|4887|-1||SNV|HGNC|HGNC:53933||||2||||||||||||||0.5130|0.2678|0.5879|0.4415|0.7753|0.5951||||||||||0.6099|0.3233|0.5813|0.6023|0.7328|0.4675|0.7736|0.7389|0.7636|0.6342|0.6155|0.7753|EUR|||||||||||||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||||||||||rs7418179|1729|1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.5130|0.2678|0.5879|0.4415|0.7753|0.5951||||||||||0.6099|0.3233|0.5813|0.6023|0.7328|0.4675|0.7736|0.7389|0.7636|0.6342|0.6155|0.7753|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,G|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs7418179|2405|-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.5130|0.2678|0.5879|0.4415|0.7753|0.5951||||||||||0.6099|0.3233|0.5813|0.6023|0.7328|0.4675|0.7736|0.7389|0.7636|0.6342|0.6155|0.7753|EUR|||||||||||||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||||||||||rs7418179|502|1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.5130|0.2678|0.5879|0.4415|0.7753|0.5951||||||||||0.6099|0.3233|0.5813|0.6023|0.7328|0.4675|0.7736|0.7389|0.7636|0.6342|0.6155|0.7753|EUR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||||||||||rs7418179|2521|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.5130|0.2678|0.5879|0.4415|0.7753|0.5951||||||||||0.6099|0.3233|0.5813|0.6023|0.7328|0.4675|0.7736|0.7389|0.7636|0.6342|0.6155|0.7753|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||||||||||rs7418179|2521|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.5130|0.2678|0.5879|0.4415|0.7753|0.5951||||||||||0.6099|0.3233|0.5813|0.6023|0.7328|0.4675|0.7736|0.7389|0.7636|0.6342|0.6155|0.7753|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||||||||||rs7418179|2521|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.5130|0.2678|0.5879|0.4415|0.7753|0.5951||||||||||0.6099|0.3233|0.5813|0.6023|0.7328|0.4675|0.7736|0.7389|0.7636|0.6342|0.6155|0.7753|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||||||||||rs7418179|502|1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.5130|0.2678|0.5879|0.4415|0.7753|0.5951||||||||||0.6099|0.3233|0.5813|0.6023|0.7328|0.4675|0.7736|0.7389|0.7636|0.6342|0.6155|0.7753|EUR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||||||||||rs7418179|2521|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.5130|0.2678|0.5879|0.4415|0.7753|0.5951||||||||||0.6099|0.3233|0.5813|0.6023|0.7328|0.4675|0.7736|0.7389|0.7636|0.6342|0.6155|0.7753|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||||||||||rs7418179|2521|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.5130|0.2678|0.5879|0.4415|0.7753|0.5951||||||||||0.6099|0.3233|0.5813|0.6023|0.7328|0.4675|0.7736|0.7389|0.7636|0.6342|0.6155|0.7753|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000105|promoter||||||||||rs7418179||||SNV||||||||||||||||||||0.5130|0.2678|0.5879|0.4415|0.7753|0.5951||||||||||0.6099|0.3233|0.5813|0.6023|0.7328|0.4675|0.7736|0.7389|0.7636|0.6342|0.6155|0.7753|EUR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 924024 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C3;DP=7;ECNT=1;GERMQ=60;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=90;POPAF=7.3;TLOD=25.34;SRC=snv;GRP=s001;CSQ=G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||||||||||rs71509444|1707|1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.6813|0.3268|0.8329|0.5565|0.9781|0.8763||||||||||0.7788|0.3942|0.9693|0.8205|0.957|0.5666|0.9571|0.914|0.9737|0.8135|0.877|0.9781|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs71509444|4332|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.6813|0.3268|0.8329|0.5565|0.9781|0.8763||||||||||0.7788|0.3942|0.9693|0.8205|0.957|0.5666|0.9571|0.914|0.9737|0.8135|0.877|0.9781|EUR|||||||||||||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||||||||||rs71509444|1126|1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.6813|0.3268|0.8329|0.5565|0.9781|0.8763||||||||||0.7788|0.3942|0.9693|0.8205|0.957|0.5666|0.9571|0.914|0.9737|0.8135|0.877|0.9781|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,G|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs71509444|3008|-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.6813|0.3268|0.8329|0.5565|0.9781|0.8763||||||||||0.7788|0.3942|0.9693|0.8205|0.957|0.5666|0.9571|0.914|0.9737|0.8135|0.877|0.9781|EUR|||||||||||||,G|5_prime_UTR_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding|1/14||ENST00000616016.5:c.-408C>G||102|||||rs71509444||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.6813|0.3268|0.8329|0.5565|0.9781|0.8763||||||||||0.7788|0.3942|0.9693|0.8205|0.957|0.5666|0.9571|0.914|0.9737|0.8135|0.877|0.9781|EUR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||||||||||rs71509444|1918|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.6813|0.3268|0.8329|0.5565|0.9781|0.8763||||||||||0.7788|0.3942|0.9693|0.8205|0.957|0.5666|0.9571|0.914|0.9737|0.8135|0.877|0.9781|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||||||||||rs71509444|1918|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.6813|0.3268|0.8329|0.5565|0.9781|0.8763||||||||||0.7788|0.3942|0.9693|0.8205|0.957|0.5666|0.9571|0.914|0.9737|0.8135|0.877|0.9781|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||||||||||rs71509444|1918|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.6813|0.3268|0.8329|0.5565|0.9781|0.8763||||||||||0.7788|0.3942|0.9693|0.8205|0.957|0.5666|0.9571|0.914|0.9737|0.8135|0.877|0.9781|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|5_prime_UTR_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding|1/14||ENST00000618323.5:c.-408C>G||102|||||rs71509444||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.6813|0.3268|0.8329|0.5565|0.9781|0.8763||||||||||0.7788|0.3942|0.9693|0.8205|0.957|0.5666|0.9571|0.914|0.9737|0.8135|0.877|0.9781|EUR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||||||||||rs71509444|1918|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.6813|0.3268|0.8329|0.5565|0.9781|0.8763||||||||||0.7788|0.3942|0.9693|0.8205|0.957|0.5666|0.9571|0.914|0.9737|0.8135|0.877|0.9781|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||||||||||rs71509444|1918|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.6813|0.3268|0.8329|0.5565|0.9781|0.8763||||||||||0.7788|0.3942|0.9693|0.8205|0.957|0.5666|0.9571|0.914|0.9737|0.8135|0.877|0.9781|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000105|promoter||||||||||rs71509444||||SNV||||||||||||||||||||0.6813|0.3268|0.8329|0.5565|0.9781|0.8763||||||||||0.7788|0.3942|0.9693|0.8205|0.957|0.5666|0.9571|0.914|0.9737|0.8135|0.877|0.9781|EUR|||||||||||||,G|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00000643357|||||||||||rs71509444||1||SNV||||||||||||||||||||0.6813|0.3268|0.8329|0.5565|0.9781|0.8763||||||||||0.7788|0.3942|0.9693|0.8205|0.957|0.5666|0.9571|0.914|0.9737|0.8135|0.877|0.9781|EUR|||||ENSPFM0617|10|N|-0.054|ZBTB7B&ZBTB7A&ZBTB7C|||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,7:0.833:7:0,0:0,4:0,4:0,0,4,3 -chr1 924305 . G A . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=3%2C2|1%2C2;DP=10;ECNT=4;GERMQ=38;MBQ=35,32;MFRL=0,0;MMQ=60,60;MPOS=112;POPAF=7.3;TLOD=11.69;SRC=snv;GRP=s001;CSQ=A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||||||||||rs111572704|1426|1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.1671|0.0643|0.2378|0.1012|0.1998|0.2904||||||||||0.1725|0.08128|0.378|0.2177|0.2257|0.0907|0.185|0.1955|0.21|0.1819|0.2679|0.378|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs111572704|4613|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.1671|0.0643|0.2378|0.1012|0.1998|0.2904||||||||||0.1725|0.08128|0.378|0.2177|0.2257|0.0907|0.185|0.1955|0.21|0.1819|0.2679|0.378|gnomADg_AMI|||||||||||||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||||||||||rs111572704|845|1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.1671|0.0643|0.2378|0.1012|0.1998|0.2904||||||||||0.1725|0.08128|0.378|0.2177|0.2257|0.0907|0.185|0.1955|0.21|0.1819|0.2679|0.378|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,A|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs111572704|3289|-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.1671|0.0643|0.2378|0.1012|0.1998|0.2904||||||||||0.1725|0.08128|0.378|0.2177|0.2257|0.0907|0.185|0.1955|0.21|0.1819|0.2679|0.378|gnomADg_AMI|||||||||||||,A|5_prime_UTR_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding|1/14||ENST00000616016.5:c.-127G>A||383|||||rs111572704||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.1671|0.0643|0.2378|0.1012|0.1998|0.2904||||||||||0.1725|0.08128|0.378|0.2177|0.2257|0.0907|0.185|0.1955|0.21|0.1819|0.2679|0.378|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||||||||||rs111572704|1637|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.1671|0.0643|0.2378|0.1012|0.1998|0.2904||||||||||0.1725|0.08128|0.378|0.2177|0.2257|0.0907|0.185|0.1955|0.21|0.1819|0.2679|0.378|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||||||||||rs111572704|1637|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.1671|0.0643|0.2378|0.1012|0.1998|0.2904||||||||||0.1725|0.08128|0.378|0.2177|0.2257|0.0907|0.185|0.1955|0.21|0.1819|0.2679|0.378|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||||||||||rs111572704|1637|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.1671|0.0643|0.2378|0.1012|0.1998|0.2904||||||||||0.1725|0.08128|0.378|0.2177|0.2257|0.0907|0.185|0.1955|0.21|0.1819|0.2679|0.378|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|5_prime_UTR_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding|1/14||ENST00000618323.5:c.-127G>A||383|||||rs111572704||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.1671|0.0643|0.2378|0.1012|0.1998|0.2904||||||||||0.1725|0.08128|0.378|0.2177|0.2257|0.0907|0.185|0.1955|0.21|0.1819|0.2679|0.378|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||||||||||rs111572704|1637|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.1671|0.0643|0.2378|0.1012|0.1998|0.2904||||||||||0.1725|0.08128|0.378|0.2177|0.2257|0.0907|0.185|0.1955|0.21|0.1819|0.2679|0.378|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||||||||||rs111572704|1637|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.1671|0.0643|0.2378|0.1012|0.1998|0.2904||||||||||0.1725|0.08128|0.378|0.2177|0.2257|0.0907|0.185|0.1955|0.21|0.1819|0.2679|0.378|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000105|promoter||||||||||rs111572704||||SNV||||||||||||||||||||0.1671|0.0643|0.2378|0.1012|0.1998|0.2904||||||||||0.1725|0.08128|0.378|0.2177|0.2257|0.0907|0.185|0.1955|0.21|0.1819|0.2679|0.378|gnomADg_AMI|||||||||||||,A|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00525502659|||||||||||rs111572704||1||SNV||||||||||||||||||||0.1671|0.0643|0.2378|0.1012|0.1998|0.2904||||||||||0.1725|0.08128|0.378|0.2177|0.2257|0.0907|0.185|0.1955|0.21|0.1819|0.2679|0.378|gnomADg_AMI|||||ENSPFM0066|2|N|-0.066|E2F1::ELK1|||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:5,3:0.427:8:0,1:3,1:3,2:0|1:924305_G_A:924305:3,2,1,2 -chr1 924310 . C G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C5;DP=9;ECNT=4;GERMQ=66;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=60;POPAF=7.3;TLOD=35.98;SRC=snv;GRP=s001;CSQ=G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||||||||||rs71509445|1421|1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.6923|0.3737|0.8343|0.5476|0.9791|0.8763||||||||||0.7968|0.4464|0.9693|0.8318|0.9635|0.564|0.9606|0.9391|0.9791|0.8283|0.8798|0.9791|EUR&gnomADg_NFE|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs71509445|4618|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.6923|0.3737|0.8343|0.5476|0.9791|0.8763||||||||||0.7968|0.4464|0.9693|0.8318|0.9635|0.564|0.9606|0.9391|0.9791|0.8283|0.8798|0.9791|EUR&gnomADg_NFE|||||||||||||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||||||||||rs71509445|840|1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.6923|0.3737|0.8343|0.5476|0.9791|0.8763||||||||||0.7968|0.4464|0.9693|0.8318|0.9635|0.564|0.9606|0.9391|0.9791|0.8283|0.8798|0.9791|EUR&gnomADg_NFE|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,G|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs71509445|3294|-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.6923|0.3737|0.8343|0.5476|0.9791|0.8763||||||||||0.7968|0.4464|0.9693|0.8318|0.9635|0.564|0.9606|0.9391|0.9791|0.8283|0.8798|0.9791|EUR&gnomADg_NFE|||||||||||||,G|5_prime_UTR_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding|1/14||ENST00000616016.5:c.-122C>G||388|||||rs71509445||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.6923|0.3737|0.8343|0.5476|0.9791|0.8763||||||||||0.7968|0.4464|0.9693|0.8318|0.9635|0.564|0.9606|0.9391|0.9791|0.8283|0.8798|0.9791|EUR&gnomADg_NFE|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||||||||||rs71509445|1632|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.6923|0.3737|0.8343|0.5476|0.9791|0.8763||||||||||0.7968|0.4464|0.9693|0.8318|0.9635|0.564|0.9606|0.9391|0.9791|0.8283|0.8798|0.9791|EUR&gnomADg_NFE|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||||||||||rs71509445|1632|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.6923|0.3737|0.8343|0.5476|0.9791|0.8763||||||||||0.7968|0.4464|0.9693|0.8318|0.9635|0.564|0.9606|0.9391|0.9791|0.8283|0.8798|0.9791|EUR&gnomADg_NFE|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||||||||||rs71509445|1632|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.6923|0.3737|0.8343|0.5476|0.9791|0.8763||||||||||0.7968|0.4464|0.9693|0.8318|0.9635|0.564|0.9606|0.9391|0.9791|0.8283|0.8798|0.9791|EUR&gnomADg_NFE|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|5_prime_UTR_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding|1/14||ENST00000618323.5:c.-122C>G||388|||||rs71509445||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.6923|0.3737|0.8343|0.5476|0.9791|0.8763||||||||||0.7968|0.4464|0.9693|0.8318|0.9635|0.564|0.9606|0.9391|0.9791|0.8283|0.8798|0.9791|EUR&gnomADg_NFE|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||||||||||rs71509445|1632|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.6923|0.3737|0.8343|0.5476|0.9791|0.8763||||||||||0.7968|0.4464|0.9693|0.8318|0.9635|0.564|0.9606|0.9391|0.9791|0.8283|0.8798|0.9791|EUR&gnomADg_NFE|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||||||||||rs71509445|1632|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.6923|0.3737|0.8343|0.5476|0.9791|0.8763||||||||||0.7968|0.4464|0.9693|0.8318|0.9635|0.564|0.9606|0.9391|0.9791|0.8283|0.8798|0.9791|EUR&gnomADg_NFE|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000105|promoter||||||||||rs71509445||||SNV||||||||||||||||||||0.6923|0.3737|0.8343|0.5476|0.9791|0.8763||||||||||0.7968|0.4464|0.9693|0.8318|0.9635|0.564|0.9606|0.9391|0.9791|0.8283|0.8798|0.9791|EUR&gnomADg_NFE|||||||||||||,G|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00525502659|||||||||||rs71509445||1||SNV||||||||||||||||||||0.6923|0.3737|0.8343|0.5476|0.9791|0.8763||||||||||0.7968|0.4464|0.9693|0.8318|0.9635|0.564|0.9606|0.9391|0.9791|0.8283|0.8798|0.9791|EUR&gnomADg_NFE|||||ENSPFM0066|7|N|-0.019|E2F1::ELK1|||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,9:0.857:9:0,1:0,4:0,5:0,0,4,5 -chr1 924314 . C A . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=3%2C3|1%2C2;DP=12;ECNT=4;GERMQ=39;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=121;POPAF=7.3;TLOD=11.66;SRC=snv;GRP=s001;CSQ=A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding|||||||||||1417|1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA|||||||||||4622|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding|||||||||||836|1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,A|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron|||||||||||3298|-1||SNV|HGNC|HGNC:53933||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|5_prime_UTR_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding|1/14||ENST00000616016.5:c.-118C>A||392|||||||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||||||||||||||||||||||||||||||||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding|||||||||||1628|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding|||||||||||1628|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding|||||||||||1628|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|5_prime_UTR_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding|1/14||ENST00000618323.5:c.-118C>A||392|||||||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||||||||||||||||||||||||||||||||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding|||||||||||1628|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding|||||||||||1628|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000105|promoter||||||||||||||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00525502659|||||||||||||1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||ENSPFM0066|11|N|-0.049|E2F1::ELK1|||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:6,3:0.426:9:0,1:3,1:3,2:0|1:924305_G_A:924305:3,3,1,2 -chr1 924321 . C G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|8%2C7;DP=15;ECNT=4;GERMQ=84;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=12;POPAF=7.3;TLOD=58.21;SRC=snv;GRP=s001;CSQ=G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||||||||||rs71509446|1410|1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.6923|0.3737|0.8343|0.5476|0.9791|0.8763||||||||||0.7969|0.4469|0.9693|0.8318|0.9635|0.5645|0.9608|0.9391|0.9792|0.829|0.8798|0.9792|gnomADg_NFE|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs71509446|4629|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.6923|0.3737|0.8343|0.5476|0.9791|0.8763||||||||||0.7969|0.4469|0.9693|0.8318|0.9635|0.5645|0.9608|0.9391|0.9792|0.829|0.8798|0.9792|gnomADg_NFE|||||||||||||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||||||||||rs71509446|829|1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.6923|0.3737|0.8343|0.5476|0.9791|0.8763||||||||||0.7969|0.4469|0.9693|0.8318|0.9635|0.5645|0.9608|0.9391|0.9792|0.829|0.8798|0.9792|gnomADg_NFE|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,G|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs71509446|3305|-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.6923|0.3737|0.8343|0.5476|0.9791|0.8763||||||||||0.7969|0.4469|0.9693|0.8318|0.9635|0.5645|0.9608|0.9391|0.9792|0.829|0.8798|0.9792|gnomADg_NFE|||||||||||||,G|5_prime_UTR_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding|1/14||ENST00000616016.5:c.-111C>G||399|||||rs71509446||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.6923|0.3737|0.8343|0.5476|0.9791|0.8763||||||||||0.7969|0.4469|0.9693|0.8318|0.9635|0.5645|0.9608|0.9391|0.9792|0.829|0.8798|0.9792|gnomADg_NFE|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||||||||||rs71509446|1621|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.6923|0.3737|0.8343|0.5476|0.9791|0.8763||||||||||0.7969|0.4469|0.9693|0.8318|0.9635|0.5645|0.9608|0.9391|0.9792|0.829|0.8798|0.9792|gnomADg_NFE|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||||||||||rs71509446|1621|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.6923|0.3737|0.8343|0.5476|0.9791|0.8763||||||||||0.7969|0.4469|0.9693|0.8318|0.9635|0.5645|0.9608|0.9391|0.9792|0.829|0.8798|0.9792|gnomADg_NFE|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||||||||||rs71509446|1621|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.6923|0.3737|0.8343|0.5476|0.9791|0.8763||||||||||0.7969|0.4469|0.9693|0.8318|0.9635|0.5645|0.9608|0.9391|0.9792|0.829|0.8798|0.9792|gnomADg_NFE|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|5_prime_UTR_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding|1/14||ENST00000618323.5:c.-111C>G||399|||||rs71509446||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.6923|0.3737|0.8343|0.5476|0.9791|0.8763||||||||||0.7969|0.4469|0.9693|0.8318|0.9635|0.5645|0.9608|0.9391|0.9792|0.829|0.8798|0.9792|gnomADg_NFE|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||||||||||rs71509446|1621|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.6923|0.3737|0.8343|0.5476|0.9791|0.8763||||||||||0.7969|0.4469|0.9693|0.8318|0.9635|0.5645|0.9608|0.9391|0.9792|0.829|0.8798|0.9792|gnomADg_NFE|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||||||||||rs71509446|1621|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.6923|0.3737|0.8343|0.5476|0.9791|0.8763||||||||||0.7969|0.4469|0.9693|0.8318|0.9635|0.5645|0.9608|0.9391|0.9792|0.829|0.8798|0.9792|gnomADg_NFE|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000105|promoter||||||||||rs71509446||||SNV||||||||||||||||||||0.6923|0.3737|0.8343|0.5476|0.9791|0.8763||||||||||0.7969|0.4469|0.9693|0.8318|0.9635|0.5645|0.9608|0.9391|0.9792|0.829|0.8798|0.9792|gnomADg_NFE||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,15:0.909:15:0,1:0,7:0,9:0,0,8,7 -chr1 924533 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|11%2C14;DP=25;ECNT=1;GERMQ=93;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=85;POPAF=7.3;TLOD=91.24;SRC=snv;GRP=s001;CSQ=G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||||||||||rs112703963|1198|1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.7498|0.4039|0.9366|0.6944|0.9811|0.9039||||||||||0.8215|0.4795|0.9693|0.9213|0.9732|0.6886|0.9618|0.9427|0.9802|0.8549|0.9098|0.9811|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000417705|lncRNA||||||||||rs112703963|4841|-1||SNV|HGNC|HGNC:53933|YES|||3||||||||||||||0.7498|0.4039|0.9366|0.6944|0.9811|0.9039||||||||||0.8215|0.4795|0.9693|0.9213|0.9732|0.6886|0.9618|0.9427|0.9802|0.8549|0.9098|0.9811|EUR|||||||||||||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||||||||||rs112703963|617|1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.7498|0.4039|0.9366|0.6944|0.9811|0.9039||||||||||0.8215|0.4795|0.9693|0.9213|0.9732|0.6886|0.9618|0.9427|0.9802|0.8549|0.9098|0.9811|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,G|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs112703963|3517|-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.7498|0.4039|0.9366|0.6944|0.9811|0.9039||||||||||0.8215|0.4795|0.9693|0.9213|0.9732|0.6886|0.9618|0.9427|0.9802|0.8549|0.9098|0.9811|EUR|||||||||||||,G|synonymous_variant|LOW|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding|1/14||ENST00000616016.5:c.102A>G|ENSP00000478421.2:p.Pro34%3D|611|102|34|P|ccA/ccG|rs112703963||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.7498|0.4039|0.9366|0.6944|0.9811|0.9039||||||||||0.8215|0.4795|0.9693|0.9213|0.9732|0.6886|0.9618|0.9427|0.9802|0.8549|0.9098|0.9811|EUR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||||||||||rs112703963|1409|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.7498|0.4039|0.9366|0.6944|0.9811|0.9039||||||||||0.8215|0.4795|0.9693|0.9213|0.9732|0.6886|0.9618|0.9427|0.9802|0.8549|0.9098|0.9811|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||||||||||rs112703963|1409|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.7498|0.4039|0.9366|0.6944|0.9811|0.9039||||||||||0.8215|0.4795|0.9693|0.9213|0.9732|0.6886|0.9618|0.9427|0.9802|0.8549|0.9098|0.9811|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||||||||||rs112703963|1409|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.7498|0.4039|0.9366|0.6944|0.9811|0.9039||||||||||0.8215|0.4795|0.9693|0.9213|0.9732|0.6886|0.9618|0.9427|0.9802|0.8549|0.9098|0.9811|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|synonymous_variant|LOW|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding|1/14||ENST00000618323.5:c.102A>G|ENSP00000480678.2:p.Pro34%3D|611|102|34|P|ccA/ccG|rs112703963||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.7498|0.4039|0.9366|0.6944|0.9811|0.9039||||||||||0.8215|0.4795|0.9693|0.9213|0.9732|0.6886|0.9618|0.9427|0.9802|0.8549|0.9098|0.9811|EUR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||||||||||rs112703963|1409|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.7498|0.4039|0.9366|0.6944|0.9811|0.9039||||||||||0.8215|0.4795|0.9693|0.9213|0.9732|0.6886|0.9618|0.9427|0.9802|0.8549|0.9098|0.9811|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||||||||||rs112703963|1409|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.7498|0.4039|0.9366|0.6944|0.9811|0.9039||||||||||0.8215|0.4795|0.9693|0.9213|0.9732|0.6886|0.9618|0.9427|0.9802|0.8549|0.9098|0.9811|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000105|promoter||||||||||rs112703963||||SNV||||||||||||||||||||0.7498|0.4039|0.9366|0.6944|0.9811|0.9039||||||||||0.8215|0.4795|0.9693|0.9213|0.9732|0.6886|0.9618|0.9427|0.9802|0.8549|0.9098|0.9811|EUR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,25:0.937:25:0,2:0,11:0,14:0,0,11,14 -chr1 925036 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C2;DP=6;ECNT=2;GERMQ=37;MBQ=31,33;MFRL=0,0;MMQ=60,60;MPOS=53;POPAF=7.3;TLOD=10.25;SRC=snv;GRP=s001;CSQ=A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||||||||||rs61464428|695|1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.5114|0.2564|0.5951|0.4464|0.7763|0.591||||||||||0.6079|0.3145|0.5899|0.6062|0.7361|0.4694|0.7727|0.7308|0.7635|0.6334|0.6107|0.7763|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||||||||||rs61464428|114|1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.5114|0.2564|0.5951|0.4464|0.7763|0.591||||||||||0.6079|0.3145|0.5899|0.6062|0.7361|0.4694|0.7727|0.7308|0.7635|0.6334|0.6107|0.7763|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,A|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs61464428|4020|-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.5114|0.2564|0.5951|0.4464|0.7763|0.591||||||||||0.6079|0.3145|0.5899|0.6062|0.7361|0.4694|0.7727|0.7308|0.7635|0.6334|0.6107|0.7763|EUR|||||||||||||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||1/13|ENST00000616016.5:c.517+88G>A|||||||rs61464428||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.5114|0.2564|0.5951|0.4464|0.7763|0.591||||||||||0.6079|0.3145|0.5899|0.6062|0.7361|0.4694|0.7727|0.7308|0.7635|0.6334|0.6107|0.7763|EUR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||||||||||rs61464428|906|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.5114|0.2564|0.5951|0.4464|0.7763|0.591||||||||||0.6079|0.3145|0.5899|0.6062|0.7361|0.4694|0.7727|0.7308|0.7635|0.6334|0.6107|0.7763|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||||||||||rs61464428|906|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.5114|0.2564|0.5951|0.4464|0.7763|0.591||||||||||0.6079|0.3145|0.5899|0.6062|0.7361|0.4694|0.7727|0.7308|0.7635|0.6334|0.6107|0.7763|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||||||||||rs61464428|906|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.5114|0.2564|0.5951|0.4464|0.7763|0.591||||||||||0.6079|0.3145|0.5899|0.6062|0.7361|0.4694|0.7727|0.7308|0.7635|0.6334|0.6107|0.7763|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||1/13|ENST00000618323.5:c.517+88G>A|||||||rs61464428||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.5114|0.2564|0.5951|0.4464|0.7763|0.591||||||||||0.6079|0.3145|0.5899|0.6062|0.7361|0.4694|0.7727|0.7308|0.7635|0.6334|0.6107|0.7763|EUR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||||||||||rs61464428|906|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.5114|0.2564|0.5951|0.4464|0.7763|0.591||||||||||0.6079|0.3145|0.5899|0.6062|0.7361|0.4694|0.7727|0.7308|0.7635|0.6334|0.6107|0.7763|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||||||||||rs61464428|906|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.5114|0.2564|0.5951|0.4464|0.7763|0.591||||||||||0.6079|0.3145|0.5899|0.6062|0.7361|0.4694|0.7727|0.7308|0.7635|0.6334|0.6107|0.7763|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000105|promoter||||||||||rs61464428||||SNV||||||||||||||||||||0.5114|0.2564|0.5951|0.4464|0.7763|0.591||||||||||0.6079|0.3145|0.5899|0.6062|0.7361|0.4694|0.7727|0.7308|0.7635|0.6334|0.6107|0.7763|EUR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,3:0.6:5:0,0:1,1:1,2:1,1,1,2 -chr1 925081 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=2;GERMQ=49;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=98;POPAF=7.3;TLOD=10.15;SRC=snv;GRP=s001;CSQ=A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||||||||||rs57465118|650|1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.6823|0.3404|0.83|0.5526|0.9742|0.8732||||||||||0.7828|0.4037|0.9693|0.8224|0.9571|0.564|0.9565|0.9146|0.9735|0.8169|0.8784|0.9742|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||||||||||rs57465118|69|1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.6823|0.3404|0.83|0.5526|0.9742|0.8732||||||||||0.7828|0.4037|0.9693|0.8224|0.9571|0.564|0.9565|0.9146|0.9735|0.8169|0.8784|0.9742|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,A|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs57465118|4065|-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.6823|0.3404|0.83|0.5526|0.9742|0.8732||||||||||0.7828|0.4037|0.9693|0.8224|0.9571|0.564|0.9565|0.9146|0.9735|0.8169|0.8784|0.9742|EUR|||||||||||||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||1/13|ENST00000616016.5:c.517+133G>A|||||||rs57465118||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.6823|0.3404|0.83|0.5526|0.9742|0.8732||||||||||0.7828|0.4037|0.9693|0.8224|0.9571|0.564|0.9565|0.9146|0.9735|0.8169|0.8784|0.9742|EUR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||||||||||rs57465118|861|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.6823|0.3404|0.83|0.5526|0.9742|0.8732||||||||||0.7828|0.4037|0.9693|0.8224|0.9571|0.564|0.9565|0.9146|0.9735|0.8169|0.8784|0.9742|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||||||||||rs57465118|861|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.6823|0.3404|0.83|0.5526|0.9742|0.8732||||||||||0.7828|0.4037|0.9693|0.8224|0.9571|0.564|0.9565|0.9146|0.9735|0.8169|0.8784|0.9742|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||||||||||rs57465118|861|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.6823|0.3404|0.83|0.5526|0.9742|0.8732||||||||||0.7828|0.4037|0.9693|0.8224|0.9571|0.564|0.9565|0.9146|0.9735|0.8169|0.8784|0.9742|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||1/13|ENST00000618323.5:c.517+133G>A|||||||rs57465118||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.6823|0.3404|0.83|0.5526|0.9742|0.8732||||||||||0.7828|0.4037|0.9693|0.8224|0.9571|0.564|0.9565|0.9146|0.9735|0.8169|0.8784|0.9742|EUR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||||||||||rs57465118|861|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.6823|0.3404|0.83|0.5526|0.9742|0.8732||||||||||0.7828|0.4037|0.9693|0.8224|0.9571|0.564|0.9565|0.9146|0.9735|0.8169|0.8784|0.9742|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||||||||||rs57465118|861|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.6823|0.3404|0.83|0.5526|0.9742|0.8732||||||||||0.7828|0.4037|0.9693|0.8224|0.9571|0.564|0.9565|0.9146|0.9735|0.8169|0.8784|0.9742|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000105|promoter||||||||||rs57465118||||SNV||||||||||||||||||||0.6823|0.3404|0.83|0.5526|0.9742|0.8732||||||||||0.7828|0.4037|0.9693|0.8224|0.9571|0.564|0.9565|0.9146|0.9735|0.8169|0.8784|0.9742|EUR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,0:0,1:0,2:0,0,1,2 -chr1 925628 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=1;GERMQ=52;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=100;POPAF=7.3;TLOD=15.23;SRC=snv;GRP=s001;CSQ=C|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||||||||||rs28521172|4684|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.6873|0.354|0.8401|0.5476|0.9751|0.8773||||||||||0.791|0.4321|0.9693|0.8273|0.9577|0.5654|0.9566|0.9135|0.9735|0.8246|0.8785|0.9751|EUR|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||||||||||rs28521172|103|1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.6873|0.354|0.8401|0.5476|0.9751|0.8773||||||||||0.791|0.4321|0.9693|0.8273|0.9577|0.5654|0.9566|0.9135|0.9735|0.8246|0.8785|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||1/4|ENST00000437963.5:c.-20-294G>C|||||||rs28521172||1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.6873|0.354|0.8401|0.5476|0.9751|0.8773||||||||||0.791|0.4321|0.9693|0.8273|0.9577|0.5654|0.9566|0.9135|0.9735|0.8246|0.8785|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,C|upstream_gene_variant|MODIFIER|LINC02593|ENSG00000223764|Transcript|ENST00000609207|retained_intron||||||||||rs28521172|4612|-1||SNV|HGNC|HGNC:53933||||||||||||||||||0.6873|0.354|0.8401|0.5476|0.9751|0.8773||||||||||0.791|0.4321|0.9693|0.8273|0.9577|0.5654|0.9566|0.9135|0.9735|0.8246|0.8785|0.9751|EUR|||||||||||||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||1/13|ENST00000616016.5:c.518-294G>C|||||||rs28521172||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.6873|0.354|0.8401|0.5476|0.9751|0.8773||||||||||0.791|0.4321|0.9693|0.8273|0.9577|0.5654|0.9566|0.9135|0.9735|0.8246|0.8785|0.9751|EUR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||||||||||rs28521172|314|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.6873|0.354|0.8401|0.5476|0.9751|0.8773||||||||||0.791|0.4321|0.9693|0.8273|0.9577|0.5654|0.9566|0.9135|0.9735|0.8246|0.8785|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||||||||||rs28521172|314|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.6873|0.354|0.8401|0.5476|0.9751|0.8773||||||||||0.791|0.4321|0.9693|0.8273|0.9577|0.5654|0.9566|0.9135|0.9735|0.8246|0.8785|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||||||||||rs28521172|314|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.6873|0.354|0.8401|0.5476|0.9751|0.8773||||||||||0.791|0.4321|0.9693|0.8273|0.9577|0.5654|0.9566|0.9135|0.9735|0.8246|0.8785|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||1/13|ENST00000618323.5:c.518-294G>C|||||||rs28521172||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.6873|0.354|0.8401|0.5476|0.9751|0.8773||||||||||0.791|0.4321|0.9693|0.8273|0.9577|0.5654|0.9566|0.9135|0.9735|0.8246|0.8785|0.9751|EUR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||||||||||rs28521172|314|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.6873|0.354|0.8401|0.5476|0.9751|0.8773||||||||||0.791|0.4321|0.9693|0.8273|0.9577|0.5654|0.9566|0.9135|0.9735|0.8246|0.8785|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||||||||||rs28521172|314|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.6873|0.354|0.8401|0.5476|0.9751|0.8773||||||||||0.791|0.4321|0.9693|0.8273|0.9577|0.5654|0.9566|0.9135|0.9735|0.8246|0.8785|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000105|promoter||||||||||rs28521172||||SNV||||||||||||||||||||0.6873|0.354|0.8401|0.5476|0.9751|0.8773||||||||||0.791|0.4321|0.9693|0.8273|0.9577|0.5654|0.9566|0.9135|0.9735|0.8246|0.8785|0.9751|EUR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 926250 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C0|3%2C3;DP=7;ECNT=1;GERMQ=43;MBQ=28,33;MFRL=0,0;MMQ=60,60;MPOS=53;POPAF=7.3;TLOD=20.96;SRC=snv;GRP=s001;CSQ=A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||||||||||rs2879816|4062|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.5058|0.2352|0.5937|0.4464|0.7773|0.591||||||||||0.6014|0.2943|0.5738|0.6037|0.7297|0.4701|0.7732|0.7215|0.7628|0.6293|0.611|0.7773|EUR|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||2/13|ENST00000342066.8:c.72+237G>A|||||||rs2879816||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.5058|0.2352|0.5937|0.4464|0.7773|0.591||||||||||0.6014|0.2943|0.5738|0.6037|0.7297|0.4701|0.7732|0.7215|0.7628|0.6293|0.611|0.7773|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||2/4|ENST00000437963.5:c.72+237G>A|||||||rs2879816||1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.5058|0.2352|0.5937|0.4464|0.7773|0.591||||||||||0.6014|0.2943|0.5738|0.6037|0.7297|0.4701|0.7732|0.7215|0.7628|0.6293|0.611|0.7773|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||2/13|ENST00000616016.5:c.609+237G>A|||||||rs2879816||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.5058|0.2352|0.5937|0.4464|0.7773|0.591||||||||||0.6014|0.2943|0.5738|0.6037|0.7297|0.4701|0.7732|0.7215|0.7628|0.6293|0.611|0.7773|EUR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||1/10|ENST00000616125.5:c.72+237G>A|||||||rs2879816||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.5058|0.2352|0.5937|0.4464|0.7773|0.591||||||||||0.6014|0.2943|0.5738|0.6037|0.7297|0.4701|0.7732|0.7215|0.7628|0.6293|0.611|0.7773|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||1/12|ENST00000617307.5:c.72+237G>A|||||||rs2879816||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.5058|0.2352|0.5937|0.4464|0.7773|0.591||||||||||0.6014|0.2943|0.5738|0.6037|0.7297|0.4701|0.7732|0.7215|0.7628|0.6293|0.611|0.7773|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||1/9|ENST00000618181.5:c.72+237G>A|||||||rs2879816||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.5058|0.2352|0.5937|0.4464|0.7773|0.591||||||||||0.6014|0.2943|0.5738|0.6037|0.7297|0.4701|0.7732|0.7215|0.7628|0.6293|0.611|0.7773|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||2/13|ENST00000618323.5:c.609+237G>A|||||||rs2879816||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.5058|0.2352|0.5937|0.4464|0.7773|0.591||||||||||0.6014|0.2943|0.5738|0.6037|0.7297|0.4701|0.7732|0.7215|0.7628|0.6293|0.611|0.7773|EUR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||1/11|ENST00000618779.5:c.72+237G>A|||||||rs2879816||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.5058|0.2352|0.5937|0.4464|0.7773|0.591||||||||||0.6014|0.2943|0.5738|0.6037|0.7297|0.4701|0.7732|0.7215|0.7628|0.6293|0.611|0.7773|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||1/12|ENST00000622503.5:c.72+237G>A|||||||rs2879816||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.5058|0.2352|0.5937|0.4464|0.7773|0.591||||||||||0.6014|0.2943|0.5738|0.6037|0.7297|0.4701|0.7732|0.7215|0.7628|0.6293|0.611|0.7773|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,6:0.667:7:0,0:1,3:1,3:1,0,3,3 -chr1 926428 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C5;DP=10;ECNT=1;GERMQ=63;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=81;POPAF=7.3;TLOD=29.28;SRC=snv;GRP=s001;CSQ=G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||||||||||rs13302982|3884|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.6823|0.3419|0.8285|0.5476|0.9751|0.8763||||||||||0.788|0.4231|0.9693|0.8243|0.9571|0.563|0.9564|0.9146|0.9734|0.8201|0.8787|0.9751|EUR|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||2/13|ENST00000342066.8:c.72+415A>G|||||||rs13302982||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.6823|0.3419|0.8285|0.5476|0.9751|0.8763||||||||||0.788|0.4231|0.9693|0.8243|0.9571|0.563|0.9564|0.9146|0.9734|0.8201|0.8787|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||2/4|ENST00000437963.5:c.72+415A>G|||||||rs13302982||1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.6823|0.3419|0.8285|0.5476|0.9751|0.8763||||||||||0.788|0.4231|0.9693|0.8243|0.9571|0.563|0.9564|0.9146|0.9734|0.8201|0.8787|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||2/13|ENST00000616016.5:c.609+415A>G|||||||rs13302982||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.6823|0.3419|0.8285|0.5476|0.9751|0.8763||||||||||0.788|0.4231|0.9693|0.8243|0.9571|0.563|0.9564|0.9146|0.9734|0.8201|0.8787|0.9751|EUR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||1/10|ENST00000616125.5:c.72+415A>G|||||||rs13302982||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.6823|0.3419|0.8285|0.5476|0.9751|0.8763||||||||||0.788|0.4231|0.9693|0.8243|0.9571|0.563|0.9564|0.9146|0.9734|0.8201|0.8787|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||1/12|ENST00000617307.5:c.72+415A>G|||||||rs13302982||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.6823|0.3419|0.8285|0.5476|0.9751|0.8763||||||||||0.788|0.4231|0.9693|0.8243|0.9571|0.563|0.9564|0.9146|0.9734|0.8201|0.8787|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||1/9|ENST00000618181.5:c.72+415A>G|||||||rs13302982||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.6823|0.3419|0.8285|0.5476|0.9751|0.8763||||||||||0.788|0.4231|0.9693|0.8243|0.9571|0.563|0.9564|0.9146|0.9734|0.8201|0.8787|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||2/13|ENST00000618323.5:c.609+415A>G|||||||rs13302982||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.6823|0.3419|0.8285|0.5476|0.9751|0.8763||||||||||0.788|0.4231|0.9693|0.8243|0.9571|0.563|0.9564|0.9146|0.9734|0.8201|0.8787|0.9751|EUR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||1/11|ENST00000618779.5:c.72+415A>G|||||||rs13302982||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.6823|0.3419|0.8285|0.5476|0.9751|0.8763||||||||||0.788|0.4231|0.9693|0.8243|0.9571|0.563|0.9564|0.9146|0.9734|0.8201|0.8787|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||1/12|ENST00000622503.5:c.72+415A>G|||||||rs13302982||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.6823|0.3419|0.8285|0.5476|0.9751|0.8763||||||||||0.788|0.4231|0.9693|0.8243|0.9571|0.563|0.9564|0.9146|0.9734|0.8201|0.8787|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344423|promoter||||||||||rs13302982||||SNV||||||||||||||||||||0.6823|0.3419|0.8285|0.5476|0.9751|0.8763||||||||||0.788|0.4231|0.9693|0.8243|0.9571|0.563|0.9564|0.9146|0.9734|0.8201|0.8787|0.9751|EUR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.864:8:0,0:0,3:0,5:0,0,3,5 -chr1 926713 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C1;DP=3;ECNT=2;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=81;POPAF=7.3;TLOD=10.95;SRC=snv;GRP=s001;CSQ=C|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||||||||||rs13303291|3599|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.6815|0.3396|0.8285|0.5486|0.9751|0.8742||||||||||0.7864|0.4174|0.9693|0.824|0.957|0.563|0.9563|0.9146|0.9734|0.8177|0.878|0.9751|EUR|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||2/13|ENST00000342066.8:c.72+700T>C|||||||rs13303291||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.6815|0.3396|0.8285|0.5486|0.9751|0.8742||||||||||0.7864|0.4174|0.9693|0.824|0.957|0.563|0.9563|0.9146|0.9734|0.8177|0.878|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||2/4|ENST00000437963.5:c.72+700T>C|||||||rs13303291||1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.6815|0.3396|0.8285|0.5486|0.9751|0.8742||||||||||0.7864|0.4174|0.9693|0.824|0.957|0.563|0.9563|0.9146|0.9734|0.8177|0.878|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||2/13|ENST00000616016.5:c.609+700T>C|||||||rs13303291||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.6815|0.3396|0.8285|0.5486|0.9751|0.8742||||||||||0.7864|0.4174|0.9693|0.824|0.957|0.563|0.9563|0.9146|0.9734|0.8177|0.878|0.9751|EUR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||1/10|ENST00000616125.5:c.72+700T>C|||||||rs13303291||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.6815|0.3396|0.8285|0.5486|0.9751|0.8742||||||||||0.7864|0.4174|0.9693|0.824|0.957|0.563|0.9563|0.9146|0.9734|0.8177|0.878|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||1/12|ENST00000617307.5:c.72+700T>C|||||||rs13303291||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.6815|0.3396|0.8285|0.5486|0.9751|0.8742||||||||||0.7864|0.4174|0.9693|0.824|0.957|0.563|0.9563|0.9146|0.9734|0.8177|0.878|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||1/9|ENST00000618181.5:c.72+700T>C|||||||rs13303291||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.6815|0.3396|0.8285|0.5486|0.9751|0.8742||||||||||0.7864|0.4174|0.9693|0.824|0.957|0.563|0.9563|0.9146|0.9734|0.8177|0.878|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||2/13|ENST00000618323.5:c.609+700T>C|||||||rs13303291||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.6815|0.3396|0.8285|0.5486|0.9751|0.8742||||||||||0.7864|0.4174|0.9693|0.824|0.957|0.563|0.9563|0.9146|0.9734|0.8177|0.878|0.9751|EUR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||1/11|ENST00000618779.5:c.72+700T>C|||||||rs13303291||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.6815|0.3396|0.8285|0.5486|0.9751|0.8742||||||||||0.7864|0.4174|0.9693|0.824|0.957|0.563|0.9563|0.9146|0.9734|0.8177|0.878|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||1/12|ENST00000622503.5:c.72+700T>C|||||||rs13303291||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.6815|0.3396|0.8285|0.5486|0.9751|0.8742||||||||||0.7864|0.4174|0.9693|0.824|0.957|0.563|0.9563|0.9146|0.9734|0.8177|0.878|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344423|promoter||||||||||rs13303291||||SNV||||||||||||||||||||0.6815|0.3396|0.8285|0.5486|0.9751|0.8742||||||||||0.7864|0.4174|0.9693|0.824|0.957|0.563|0.9563|0.9146|0.9734|0.8177|0.878|0.9751|EUR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,0:0,2:0,2:0,0,2,1 -chr1 926744 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=4;ECNT=2;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=57;POPAF=7.3;TLOD=7.08;SRC=snv;GRP=s001;CSQ=G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||||||||||rs13303101|3568|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.6827|0.3442|0.8285|0.5496|0.9751|0.8732||||||||||0.788|0.4231|0.9693|0.8243|0.9571|0.5629|0.9564|0.9146|0.9734|0.8195|0.8785|0.9751|EUR|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||2/13|ENST00000342066.8:c.72+731A>G|||||||rs13303101||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.6827|0.3442|0.8285|0.5496|0.9751|0.8732||||||||||0.788|0.4231|0.9693|0.8243|0.9571|0.5629|0.9564|0.9146|0.9734|0.8195|0.8785|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||2/4|ENST00000437963.5:c.72+731A>G|||||||rs13303101||1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.6827|0.3442|0.8285|0.5496|0.9751|0.8732||||||||||0.788|0.4231|0.9693|0.8243|0.9571|0.5629|0.9564|0.9146|0.9734|0.8195|0.8785|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||2/13|ENST00000616016.5:c.609+731A>G|||||||rs13303101||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.6827|0.3442|0.8285|0.5496|0.9751|0.8732||||||||||0.788|0.4231|0.9693|0.8243|0.9571|0.5629|0.9564|0.9146|0.9734|0.8195|0.8785|0.9751|EUR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||1/10|ENST00000616125.5:c.72+731A>G|||||||rs13303101||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.6827|0.3442|0.8285|0.5496|0.9751|0.8732||||||||||0.788|0.4231|0.9693|0.8243|0.9571|0.5629|0.9564|0.9146|0.9734|0.8195|0.8785|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||1/12|ENST00000617307.5:c.72+731A>G|||||||rs13303101||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.6827|0.3442|0.8285|0.5496|0.9751|0.8732||||||||||0.788|0.4231|0.9693|0.8243|0.9571|0.5629|0.9564|0.9146|0.9734|0.8195|0.8785|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||1/9|ENST00000618181.5:c.72+731A>G|||||||rs13303101||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.6827|0.3442|0.8285|0.5496|0.9751|0.8732||||||||||0.788|0.4231|0.9693|0.8243|0.9571|0.5629|0.9564|0.9146|0.9734|0.8195|0.8785|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||2/13|ENST00000618323.5:c.609+731A>G|||||||rs13303101||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.6827|0.3442|0.8285|0.5496|0.9751|0.8732||||||||||0.788|0.4231|0.9693|0.8243|0.9571|0.5629|0.9564|0.9146|0.9734|0.8195|0.8785|0.9751|EUR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||1/11|ENST00000618779.5:c.72+731A>G|||||||rs13303101||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.6827|0.3442|0.8285|0.5496|0.9751|0.8732||||||||||0.788|0.4231|0.9693|0.8243|0.9571|0.5629|0.9564|0.9146|0.9734|0.8195|0.8785|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||1/12|ENST00000622503.5:c.72+731A>G|||||||rs13303101||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.6827|0.3442|0.8285|0.5496|0.9751|0.8732||||||||||0.788|0.4231|0.9693|0.8243|0.9571|0.5629|0.9564|0.9146|0.9734|0.8195|0.8785|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344423|promoter||||||||||rs13303101||||SNV||||||||||||||||||||0.6827|0.3442|0.8285|0.5496|0.9751|0.8732||||||||||0.788|0.4231|0.9693|0.8243|0.9571|0.5629|0.9564|0.9146|0.9734|0.8195|0.8785|0.9751|EUR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.684:2:0,0:0,1:0,1:0,0,1,1 -chr1 927003 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=2;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=57;POPAF=7.3;TLOD=13.02;SRC=snv;GRP=s001;CSQ=T|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||||||||||rs6680268|3309|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.6817|0.3389|0.83|0.5476|0.9751|0.8763||||||||||0.786|0.4155|0.9692|0.8243|0.957|0.5633|0.9562|0.9135|0.9734|0.8198|0.8788|0.9751|EUR|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||2/13|ENST00000342066.8:c.72+990C>T|||||||rs6680268||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.6817|0.3389|0.83|0.5476|0.9751|0.8763||||||||||0.786|0.4155|0.9692|0.8243|0.957|0.5633|0.9562|0.9135|0.9734|0.8198|0.8788|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||2/4|ENST00000437963.5:c.72+990C>T|||||||rs6680268||1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.6817|0.3389|0.83|0.5476|0.9751|0.8763||||||||||0.786|0.4155|0.9692|0.8243|0.957|0.5633|0.9562|0.9135|0.9734|0.8198|0.8788|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||2/13|ENST00000616016.5:c.609+990C>T|||||||rs6680268||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.6817|0.3389|0.83|0.5476|0.9751|0.8763||||||||||0.786|0.4155|0.9692|0.8243|0.957|0.5633|0.9562|0.9135|0.9734|0.8198|0.8788|0.9751|EUR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||1/10|ENST00000616125.5:c.72+990C>T|||||||rs6680268||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.6817|0.3389|0.83|0.5476|0.9751|0.8763||||||||||0.786|0.4155|0.9692|0.8243|0.957|0.5633|0.9562|0.9135|0.9734|0.8198|0.8788|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||1/12|ENST00000617307.5:c.72+990C>T|||||||rs6680268||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.6817|0.3389|0.83|0.5476|0.9751|0.8763||||||||||0.786|0.4155|0.9692|0.8243|0.957|0.5633|0.9562|0.9135|0.9734|0.8198|0.8788|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||1/9|ENST00000618181.5:c.72+990C>T|||||||rs6680268||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.6817|0.3389|0.83|0.5476|0.9751|0.8763||||||||||0.786|0.4155|0.9692|0.8243|0.957|0.5633|0.9562|0.9135|0.9734|0.8198|0.8788|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||2/13|ENST00000618323.5:c.609+990C>T|||||||rs6680268||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.6817|0.3389|0.83|0.5476|0.9751|0.8763||||||||||0.786|0.4155|0.9692|0.8243|0.957|0.5633|0.9562|0.9135|0.9734|0.8198|0.8788|0.9751|EUR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||1/11|ENST00000618779.5:c.72+990C>T|||||||rs6680268||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.6817|0.3389|0.83|0.5476|0.9751|0.8763||||||||||0.786|0.4155|0.9692|0.8243|0.957|0.5633|0.9562|0.9135|0.9734|0.8198|0.8788|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||1/12|ENST00000622503.5:c.72+990C>T|||||||rs6680268||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.6817|0.3389|0.83|0.5476|0.9751|0.8763||||||||||0.786|0.4155|0.9692|0.8243|0.957|0.5633|0.9562|0.9135|0.9734|0.8198|0.8788|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.75:3:0,1:0,1:0,2:0|1:927003_C_T:927003:0,0,1,2 -chr1 927009 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=2;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=63;POPAF=7.3;TLOD=13.02;SRC=snv;GRP=s001;CSQ=G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||||||||||rs6693546|3303|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.6829|0.3434|0.83|0.5476|0.9751|0.8763||||||||||0.7769|0.42|0.9637|0.8161|0.903|0.5629|0.9374|0.9129|0.9581|0.8085|0.8771|0.9751|EUR|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||2/13|ENST00000342066.8:c.72+996A>G|||||||rs6693546||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.6829|0.3434|0.83|0.5476|0.9751|0.8763||||||||||0.7769|0.42|0.9637|0.8161|0.903|0.5629|0.9374|0.9129|0.9581|0.8085|0.8771|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||2/4|ENST00000437963.5:c.72+996A>G|||||||rs6693546||1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.6829|0.3434|0.83|0.5476|0.9751|0.8763||||||||||0.7769|0.42|0.9637|0.8161|0.903|0.5629|0.9374|0.9129|0.9581|0.8085|0.8771|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||2/13|ENST00000616016.5:c.609+996A>G|||||||rs6693546||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.6829|0.3434|0.83|0.5476|0.9751|0.8763||||||||||0.7769|0.42|0.9637|0.8161|0.903|0.5629|0.9374|0.9129|0.9581|0.8085|0.8771|0.9751|EUR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||1/10|ENST00000616125.5:c.72+996A>G|||||||rs6693546||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.6829|0.3434|0.83|0.5476|0.9751|0.8763||||||||||0.7769|0.42|0.9637|0.8161|0.903|0.5629|0.9374|0.9129|0.9581|0.8085|0.8771|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||1/12|ENST00000617307.5:c.72+996A>G|||||||rs6693546||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.6829|0.3434|0.83|0.5476|0.9751|0.8763||||||||||0.7769|0.42|0.9637|0.8161|0.903|0.5629|0.9374|0.9129|0.9581|0.8085|0.8771|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||1/9|ENST00000618181.5:c.72+996A>G|||||||rs6693546||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.6829|0.3434|0.83|0.5476|0.9751|0.8763||||||||||0.7769|0.42|0.9637|0.8161|0.903|0.5629|0.9374|0.9129|0.9581|0.8085|0.8771|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||2/13|ENST00000618323.5:c.609+996A>G|||||||rs6693546||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.6829|0.3434|0.83|0.5476|0.9751|0.8763||||||||||0.7769|0.42|0.9637|0.8161|0.903|0.5629|0.9374|0.9129|0.9581|0.8085|0.8771|0.9751|EUR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||1/11|ENST00000618779.5:c.72+996A>G|||||||rs6693546||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.6829|0.3434|0.83|0.5476|0.9751|0.8763||||||||||0.7769|0.42|0.9637|0.8161|0.903|0.5629|0.9374|0.9129|0.9581|0.8085|0.8771|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||1/12|ENST00000622503.5:c.72+996A>G|||||||rs6693546||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.6829|0.3434|0.83|0.5476|0.9751|0.8763||||||||||0.7769|0.42|0.9637|0.8161|0.903|0.5629|0.9374|0.9129|0.9581|0.8085|0.8771|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.75:3:0,1:0,1:0,2:0|1:927003_C_T:927003:0,0,1,2 -chr1 927443 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C4|1%2C1;DP=9;ECNT=2;GERMQ=43;MBQ=35,33;MFRL=0,0;MMQ=60,60;MPOS=57;POPAF=7.3;TLOD=5.98;SRC=snv;GRP=s001;CSQ=T|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||||||||||rs960680510|2869|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1|||||||||||||||||||||7.092e-06|0|0|0|0|0|0|0|1.477e-05|0|0|1.477e-05|gnomADg_NFE|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||2/13|ENST00000342066.8:c.72+1430C>T|||||||rs960680510||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1|||||||||||||||||||||7.092e-06|0|0|0|0|0|0|0|1.477e-05|0|0|1.477e-05|gnomADg_NFE|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||2/4|ENST00000437963.5:c.72+1430C>T|||||||rs960680510||1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1|||||||||||||||||||||7.092e-06|0|0|0|0|0|0|0|1.477e-05|0|0|1.477e-05|gnomADg_NFE|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||2/13|ENST00000616016.5:c.609+1430C>T|||||||rs960680510||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1|||||||||||||||||||||7.092e-06|0|0|0|0|0|0|0|1.477e-05|0|0|1.477e-05|gnomADg_NFE|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||1/10|ENST00000616125.5:c.72+1430C>T|||||||rs960680510||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1|||||||||||||||||||||7.092e-06|0|0|0|0|0|0|0|1.477e-05|0|0|1.477e-05|gnomADg_NFE|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||1/12|ENST00000617307.5:c.72+1430C>T|||||||rs960680510||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1|||||||||||||||||||||7.092e-06|0|0|0|0|0|0|0|1.477e-05|0|0|1.477e-05|gnomADg_NFE|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||1/9|ENST00000618181.5:c.72+1430C>T|||||||rs960680510||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1|||||||||||||||||||||7.092e-06|0|0|0|0|0|0|0|1.477e-05|0|0|1.477e-05|gnomADg_NFE|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||2/13|ENST00000618323.5:c.609+1430C>T|||||||rs960680510||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1|||||||||||||||||||||7.092e-06|0|0|0|0|0|0|0|1.477e-05|0|0|1.477e-05|gnomADg_NFE|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||1/11|ENST00000618779.5:c.72+1430C>T|||||||rs960680510||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1|||||||||||||||||||||7.092e-06|0|0|0|0|0|0|0|1.477e-05|0|0|1.477e-05|gnomADg_NFE|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||1/12|ENST00000622503.5:c.72+1430C>T|||||||rs960680510||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1|||||||||||||||||||||7.092e-06|0|0|0|0|0|0|0|1.477e-05|0|0|1.477e-05|gnomADg_NFE|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,2:0.286:9:0,0:3,1:4,1:3,4,1,1 -chr1 927486 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C4|2%2C2;DP=14;ECNT=2;GERMQ=37;MBQ=32,32;MFRL=0,0;MMQ=60,60;MPOS=70;POPAF=7.3;TLOD=12.43;SRC=snv;GRP=s001;CSQ=T|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||||||||||rs3892970|2826|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.4766|0.2731|0.5893|0.2758|0.7694|0.5777||||||||||0.5972|0.3288|0.5899|0.5844|0.7117|0.259|0.7367|0.7215|0.7601|0.6184|0.6026|0.7694|EUR|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||2/13|ENST00000342066.8:c.72+1473C>T|||||||rs3892970||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.4766|0.2731|0.5893|0.2758|0.7694|0.5777||||||||||0.5972|0.3288|0.5899|0.5844|0.7117|0.259|0.7367|0.7215|0.7601|0.6184|0.6026|0.7694|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||2/4|ENST00000437963.5:c.72+1473C>T|||||||rs3892970||1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.4766|0.2731|0.5893|0.2758|0.7694|0.5777||||||||||0.5972|0.3288|0.5899|0.5844|0.7117|0.259|0.7367|0.7215|0.7601|0.6184|0.6026|0.7694|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||2/13|ENST00000616016.5:c.609+1473C>T|||||||rs3892970||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.4766|0.2731|0.5893|0.2758|0.7694|0.5777||||||||||0.5972|0.3288|0.5899|0.5844|0.7117|0.259|0.7367|0.7215|0.7601|0.6184|0.6026|0.7694|EUR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||1/10|ENST00000616125.5:c.72+1473C>T|||||||rs3892970||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.4766|0.2731|0.5893|0.2758|0.7694|0.5777||||||||||0.5972|0.3288|0.5899|0.5844|0.7117|0.259|0.7367|0.7215|0.7601|0.6184|0.6026|0.7694|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||1/12|ENST00000617307.5:c.72+1473C>T|||||||rs3892970||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.4766|0.2731|0.5893|0.2758|0.7694|0.5777||||||||||0.5972|0.3288|0.5899|0.5844|0.7117|0.259|0.7367|0.7215|0.7601|0.6184|0.6026|0.7694|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||1/9|ENST00000618181.5:c.72+1473C>T|||||||rs3892970||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.4766|0.2731|0.5893|0.2758|0.7694|0.5777||||||||||0.5972|0.3288|0.5899|0.5844|0.7117|0.259|0.7367|0.7215|0.7601|0.6184|0.6026|0.7694|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||2/13|ENST00000618323.5:c.609+1473C>T|||||||rs3892970||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.4766|0.2731|0.5893|0.2758|0.7694|0.5777||||||||||0.5972|0.3288|0.5899|0.5844|0.7117|0.259|0.7367|0.7215|0.7601|0.6184|0.6026|0.7694|EUR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||1/11|ENST00000618779.5:c.72+1473C>T|||||||rs3892970||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.4766|0.2731|0.5893|0.2758|0.7694|0.5777||||||||||0.5972|0.3288|0.5899|0.5844|0.7117|0.259|0.7367|0.7215|0.7601|0.6184|0.6026|0.7694|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||1/12|ENST00000622503.5:c.72+1473C>T|||||||rs3892970||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.4766|0.2731|0.5893|0.2758|0.7694|0.5777||||||||||0.5972|0.3288|0.5899|0.5844|0.7117|0.259|0.7367|0.7215|0.7601|0.6184|0.6026|0.7694|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,4:0.372:10:0,0:2,2:4,2:2,4,2,2 -chr1 927744 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|6%2C5;DP=11;ECNT=1;GERMQ=72;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=67;POPAF=7.3;TLOD=40.47;SRC=snv;GRP=s001;CSQ=T|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||||||||||rs4040604|2568|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.6801|0.3343|0.8285|0.5476|0.9751|0.8753||||||||||0.7854|0.4151|0.9693|0.8235|0.9571|0.5621|0.9565|0.9146|0.9732|0.8174|0.8771|0.9751|EUR|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||2/13|ENST00000342066.8:c.72+1731G>T|||||||rs4040604||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.6801|0.3343|0.8285|0.5476|0.9751|0.8753||||||||||0.7854|0.4151|0.9693|0.8235|0.9571|0.5621|0.9565|0.9146|0.9732|0.8174|0.8771|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||2/4|ENST00000437963.5:c.72+1731G>T|||||||rs4040604||1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.6801|0.3343|0.8285|0.5476|0.9751|0.8753||||||||||0.7854|0.4151|0.9693|0.8235|0.9571|0.5621|0.9565|0.9146|0.9732|0.8174|0.8771|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||2/13|ENST00000616016.5:c.609+1731G>T|||||||rs4040604||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.6801|0.3343|0.8285|0.5476|0.9751|0.8753||||||||||0.7854|0.4151|0.9693|0.8235|0.9571|0.5621|0.9565|0.9146|0.9732|0.8174|0.8771|0.9751|EUR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||1/10|ENST00000616125.5:c.72+1731G>T|||||||rs4040604||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.6801|0.3343|0.8285|0.5476|0.9751|0.8753||||||||||0.7854|0.4151|0.9693|0.8235|0.9571|0.5621|0.9565|0.9146|0.9732|0.8174|0.8771|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||1/12|ENST00000617307.5:c.72+1731G>T|||||||rs4040604||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.6801|0.3343|0.8285|0.5476|0.9751|0.8753||||||||||0.7854|0.4151|0.9693|0.8235|0.9571|0.5621|0.9565|0.9146|0.9732|0.8174|0.8771|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||1/9|ENST00000618181.5:c.72+1731G>T|||||||rs4040604||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.6801|0.3343|0.8285|0.5476|0.9751|0.8753||||||||||0.7854|0.4151|0.9693|0.8235|0.9571|0.5621|0.9565|0.9146|0.9732|0.8174|0.8771|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||2/13|ENST00000618323.5:c.609+1731G>T|||||||rs4040604||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.6801|0.3343|0.8285|0.5476|0.9751|0.8753||||||||||0.7854|0.4151|0.9693|0.8235|0.9571|0.5621|0.9565|0.9146|0.9732|0.8174|0.8771|0.9751|EUR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||1/11|ENST00000618779.5:c.72+1731G>T|||||||rs4040604||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.6801|0.3343|0.8285|0.5476|0.9751|0.8753||||||||||0.7854|0.4151|0.9693|0.8235|0.9571|0.5621|0.9565|0.9146|0.9732|0.8174|0.8771|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||1/12|ENST00000622503.5:c.72+1731G>T|||||||rs4040604||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.6801|0.3343|0.8285|0.5476|0.9751|0.8753||||||||||0.7854|0.4151|0.9693|0.8235|0.9571|0.5621|0.9565|0.9146|0.9732|0.8174|0.8771|0.9751|EUR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,11:0.875:11:0,0:0,6:0,6:0,0,6,5 -chr1 928176 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=2;GERMQ=44;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=132;POPAF=7.3;TLOD=4.2;SRC=snv;GRP=s001;CSQ=A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||||||||||rs7410998|2136|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.9101|0.879|0.866|0.9335|0.9076|0.9622||||||||||0.9065|0.89|0.9581|0.8786|0.9296|0.9257|0.9328|0.8917|0.9116|0.9219|0.9532|0.9622|SAS|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||2/13|ENST00000342066.8:c.73-1979G>A|||||||rs7410998||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.9101|0.879|0.866|0.9335|0.9076|0.9622||||||||||0.9065|0.89|0.9581|0.8786|0.9296|0.9257|0.9328|0.8917|0.9116|0.9219|0.9532|0.9622|SAS|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||2/4|ENST00000437963.5:c.73-1979G>A|||||||rs7410998||1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.9101|0.879|0.866|0.9335|0.9076|0.9622||||||||||0.9065|0.89|0.9581|0.8786|0.9296|0.9257|0.9328|0.8917|0.9116|0.9219|0.9532|0.9622|SAS|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||2/13|ENST00000616016.5:c.610-1979G>A|||||||rs7410998||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.9101|0.879|0.866|0.9335|0.9076|0.9622||||||||||0.9065|0.89|0.9581|0.8786|0.9296|0.9257|0.9328|0.8917|0.9116|0.9219|0.9532|0.9622|SAS|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||1/10|ENST00000616125.5:c.73-1979G>A|||||||rs7410998||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.9101|0.879|0.866|0.9335|0.9076|0.9622||||||||||0.9065|0.89|0.9581|0.8786|0.9296|0.9257|0.9328|0.8917|0.9116|0.9219|0.9532|0.9622|SAS|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||1/12|ENST00000617307.5:c.73-1979G>A|||||||rs7410998||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.9101|0.879|0.866|0.9335|0.9076|0.9622||||||||||0.9065|0.89|0.9581|0.8786|0.9296|0.9257|0.9328|0.8917|0.9116|0.9219|0.9532|0.9622|SAS|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||1/9|ENST00000618181.5:c.73-1979G>A|||||||rs7410998||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.9101|0.879|0.866|0.9335|0.9076|0.9622||||||||||0.9065|0.89|0.9581|0.8786|0.9296|0.9257|0.9328|0.8917|0.9116|0.9219|0.9532|0.9622|SAS|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||2/13|ENST00000618323.5:c.610-1979G>A|||||||rs7410998||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.9101|0.879|0.866|0.9335|0.9076|0.9622||||||||||0.9065|0.89|0.9581|0.8786|0.9296|0.9257|0.9328|0.8917|0.9116|0.9219|0.9532|0.9622|SAS|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||1/11|ENST00000618779.5:c.73-1979G>A|||||||rs7410998||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.9101|0.879|0.866|0.9335|0.9076|0.9622||||||||||0.9065|0.89|0.9581|0.8786|0.9296|0.9257|0.9328|0.8917|0.9116|0.9219|0.9532|0.9622|SAS|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||1/12|ENST00000622503.5:c.73-1979G>A|||||||rs7410998||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.9101|0.879|0.866|0.9335|0.9076|0.9622||||||||||0.9065|0.89|0.9581|0.8786|0.9296|0.9257|0.9328|0.8917|0.9116|0.9219|0.9532|0.9622|SAS|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,1:0,0:0,1:0|1:928176_G_A:928176:0,0,0,1 -chr1 928182 . A C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=2;GERMQ=44;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=138;POPAF=7.3;TLOD=4.2;SRC=snv;GRP=s001;CSQ=C|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||||||||||rs7417972|2130|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.8462|0.7973|0.7579|0.8333|0.9006|0.9325||||||||||0.8761|0.8316|0.9581|0.7872|0.9233|0.8515|0.9295|0.8981|0.9091|0.8974|0.9261|0.9581|gnomADg_AMI|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||2/13|ENST00000342066.8:c.73-1973A>C|||||||rs7417972||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.8462|0.7973|0.7579|0.8333|0.9006|0.9325||||||||||0.8761|0.8316|0.9581|0.7872|0.9233|0.8515|0.9295|0.8981|0.9091|0.8974|0.9261|0.9581|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||2/4|ENST00000437963.5:c.73-1973A>C|||||||rs7417972||1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.8462|0.7973|0.7579|0.8333|0.9006|0.9325||||||||||0.8761|0.8316|0.9581|0.7872|0.9233|0.8515|0.9295|0.8981|0.9091|0.8974|0.9261|0.9581|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||2/13|ENST00000616016.5:c.610-1973A>C|||||||rs7417972||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.8462|0.7973|0.7579|0.8333|0.9006|0.9325||||||||||0.8761|0.8316|0.9581|0.7872|0.9233|0.8515|0.9295|0.8981|0.9091|0.8974|0.9261|0.9581|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||1/10|ENST00000616125.5:c.73-1973A>C|||||||rs7417972||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.8462|0.7973|0.7579|0.8333|0.9006|0.9325||||||||||0.8761|0.8316|0.9581|0.7872|0.9233|0.8515|0.9295|0.8981|0.9091|0.8974|0.9261|0.9581|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||1/12|ENST00000617307.5:c.73-1973A>C|||||||rs7417972||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.8462|0.7973|0.7579|0.8333|0.9006|0.9325||||||||||0.8761|0.8316|0.9581|0.7872|0.9233|0.8515|0.9295|0.8981|0.9091|0.8974|0.9261|0.9581|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||1/9|ENST00000618181.5:c.73-1973A>C|||||||rs7417972||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.8462|0.7973|0.7579|0.8333|0.9006|0.9325||||||||||0.8761|0.8316|0.9581|0.7872|0.9233|0.8515|0.9295|0.8981|0.9091|0.8974|0.9261|0.9581|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||2/13|ENST00000618323.5:c.610-1973A>C|||||||rs7417972||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.8462|0.7973|0.7579|0.8333|0.9006|0.9325||||||||||0.8761|0.8316|0.9581|0.7872|0.9233|0.8515|0.9295|0.8981|0.9091|0.8974|0.9261|0.9581|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||1/11|ENST00000618779.5:c.73-1973A>C|||||||rs7417972||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.8462|0.7973|0.7579|0.8333|0.9006|0.9325||||||||||0.8761|0.8316|0.9581|0.7872|0.9233|0.8515|0.9295|0.8981|0.9091|0.8974|0.9261|0.9581|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||1/12|ENST00000622503.5:c.73-1973A>C|||||||rs7417972||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.8462|0.7973|0.7579|0.8333|0.9006|0.9325||||||||||0.8761|0.8316|0.9581|0.7872|0.9233|0.8515|0.9295|0.8981|0.9091|0.8974|0.9261|0.9581|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,1:0,0:0,1:0|1:928176_G_A:928176:0,0,0,1 -chr1 928622 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=1;GERMQ=49;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=61;POPAF=7.3;TLOD=10.45;SRC=snv;GRP=s001;CSQ=C|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||||||||||rs1806501|1690|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.1617|0.0492|0.2334|0.0774|0.2068|0.3037||||||||||0.173|0.06598|0.3967|0.2146|0.2581|0.06849|0.2079|0.1772|0.216|0.1828|0.2811|0.3967|gnomADg_AMI|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||2/13|ENST00000342066.8:c.73-1533G>C|||||||rs1806501||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.1617|0.0492|0.2334|0.0774|0.2068|0.3037||||||||||0.173|0.06598|0.3967|0.2146|0.2581|0.06849|0.2079|0.1772|0.216|0.1828|0.2811|0.3967|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||2/4|ENST00000437963.5:c.73-1533G>C|||||||rs1806501||1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.1617|0.0492|0.2334|0.0774|0.2068|0.3037||||||||||0.173|0.06598|0.3967|0.2146|0.2581|0.06849|0.2079|0.1772|0.216|0.1828|0.2811|0.3967|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||2/13|ENST00000616016.5:c.610-1533G>C|||||||rs1806501||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.1617|0.0492|0.2334|0.0774|0.2068|0.3037||||||||||0.173|0.06598|0.3967|0.2146|0.2581|0.06849|0.2079|0.1772|0.216|0.1828|0.2811|0.3967|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||1/10|ENST00000616125.5:c.73-1533G>C|||||||rs1806501||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.1617|0.0492|0.2334|0.0774|0.2068|0.3037||||||||||0.173|0.06598|0.3967|0.2146|0.2581|0.06849|0.2079|0.1772|0.216|0.1828|0.2811|0.3967|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||1/12|ENST00000617307.5:c.73-1533G>C|||||||rs1806501||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.1617|0.0492|0.2334|0.0774|0.2068|0.3037||||||||||0.173|0.06598|0.3967|0.2146|0.2581|0.06849|0.2079|0.1772|0.216|0.1828|0.2811|0.3967|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||1/9|ENST00000618181.5:c.73-1533G>C|||||||rs1806501||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.1617|0.0492|0.2334|0.0774|0.2068|0.3037||||||||||0.173|0.06598|0.3967|0.2146|0.2581|0.06849|0.2079|0.1772|0.216|0.1828|0.2811|0.3967|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||2/13|ENST00000618323.5:c.610-1533G>C|||||||rs1806501||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.1617|0.0492|0.2334|0.0774|0.2068|0.3037||||||||||0.173|0.06598|0.3967|0.2146|0.2581|0.06849|0.2079|0.1772|0.216|0.1828|0.2811|0.3967|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||1/11|ENST00000618779.5:c.73-1533G>C|||||||rs1806501||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.1617|0.0492|0.2334|0.0774|0.2068|0.3037||||||||||0.173|0.06598|0.3967|0.2146|0.2581|0.06849|0.2079|0.1772|0.216|0.1828|0.2811|0.3967|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||1/12|ENST00000622503.5:c.73-1533G>C|||||||rs1806501||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.1617|0.0492|0.2334|0.0774|0.2068|0.3037||||||||||0.173|0.06598|0.3967|0.2146|0.2581|0.06849|0.2079|0.1772|0.216|0.1828|0.2811|0.3967|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,1:0,1:0,2:0,0,1,2 -chr1 929346 . T A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=4;ECNT=3;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=107;POPAF=7.3;TLOD=10.73;SRC=snv;GRP=s001;CSQ=A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||||||||||rs2340590|966|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.9537|0.8313|0.9914|0.998|1|0.999||||||||||0.9604|0.8659|1|0.9819|1|0.9994|0.999|0.9778|0.9988|0.9641|0.9971|1|EUR&gnomADg_AMI&gnomADg_ASJ|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||2/13|ENST00000342066.8:c.73-809T>A|||||||rs2340590||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.9537|0.8313|0.9914|0.998|1|0.999||||||||||0.9604|0.8659|1|0.9819|1|0.9994|0.999|0.9778|0.9988|0.9641|0.9971|1|EUR&gnomADg_AMI&gnomADg_ASJ|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||2/4|ENST00000437963.5:c.73-809T>A|||||||rs2340590||1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.9537|0.8313|0.9914|0.998|1|0.999||||||||||0.9604|0.8659|1|0.9819|1|0.9994|0.999|0.9778|0.9988|0.9641|0.9971|1|EUR&gnomADg_AMI&gnomADg_ASJ|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||2/13|ENST00000616016.5:c.610-809T>A|||||||rs2340590||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.9537|0.8313|0.9914|0.998|1|0.999||||||||||0.9604|0.8659|1|0.9819|1|0.9994|0.999|0.9778|0.9988|0.9641|0.9971|1|EUR&gnomADg_AMI&gnomADg_ASJ|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||1/10|ENST00000616125.5:c.73-809T>A|||||||rs2340590||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.9537|0.8313|0.9914|0.998|1|0.999||||||||||0.9604|0.8659|1|0.9819|1|0.9994|0.999|0.9778|0.9988|0.9641|0.9971|1|EUR&gnomADg_AMI&gnomADg_ASJ|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||1/12|ENST00000617307.5:c.73-809T>A|||||||rs2340590||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.9537|0.8313|0.9914|0.998|1|0.999||||||||||0.9604|0.8659|1|0.9819|1|0.9994|0.999|0.9778|0.9988|0.9641|0.9971|1|EUR&gnomADg_AMI&gnomADg_ASJ|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||1/9|ENST00000618181.5:c.73-809T>A|||||||rs2340590||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.9537|0.8313|0.9914|0.998|1|0.999||||||||||0.9604|0.8659|1|0.9819|1|0.9994|0.999|0.9778|0.9988|0.9641|0.9971|1|EUR&gnomADg_AMI&gnomADg_ASJ|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||2/13|ENST00000618323.5:c.610-809T>A|||||||rs2340590||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.9537|0.8313|0.9914|0.998|1|0.999||||||||||0.9604|0.8659|1|0.9819|1|0.9994|0.999|0.9778|0.9988|0.9641|0.9971|1|EUR&gnomADg_AMI&gnomADg_ASJ|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||1/11|ENST00000618779.5:c.73-809T>A|||||||rs2340590||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.9537|0.8313|0.9914|0.998|1|0.999||||||||||0.9604|0.8659|1|0.9819|1|0.9994|0.999|0.9778|0.9988|0.9641|0.9971|1|EUR&gnomADg_AMI&gnomADg_ASJ|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||1/12|ENST00000622503.5:c.73-809T>A|||||||rs2340590||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.9537|0.8313|0.9914|0.998|1|0.999||||||||||0.9604|0.8659|1|0.9819|1|0.9994|0.999|0.9778|0.9988|0.9641|0.9971|1|EUR&gnomADg_AMI&gnomADg_ASJ|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.8:3:0,1:0,1:0,3:0,0,1,2 -chr1 929375 . A G . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=3;GERMQ=49;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=39;POPAF=7.3;TLOD=13.02;SRC=snv;GRP=s001;CSQ=G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||||||||||rs2340589|937|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.7887|0.3926|0.8545|0.8839|0.9891|0.9734||||||||||0.8303|0.4748|1|0.8446|0.983|0.909|0.9931|0.9525|0.9904|0.8574|0.9675|1|gnomADg_AMI|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||2/13|ENST00000342066.8:c.73-780A>G|||||||rs2340589||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.7887|0.3926|0.8545|0.8839|0.9891|0.9734||||||||||0.8303|0.4748|1|0.8446|0.983|0.909|0.9931|0.9525|0.9904|0.8574|0.9675|1|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||2/4|ENST00000437963.5:c.73-780A>G|||||||rs2340589||1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.7887|0.3926|0.8545|0.8839|0.9891|0.9734||||||||||0.8303|0.4748|1|0.8446|0.983|0.909|0.9931|0.9525|0.9904|0.8574|0.9675|1|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||2/13|ENST00000616016.5:c.610-780A>G|||||||rs2340589||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.7887|0.3926|0.8545|0.8839|0.9891|0.9734||||||||||0.8303|0.4748|1|0.8446|0.983|0.909|0.9931|0.9525|0.9904|0.8574|0.9675|1|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||1/10|ENST00000616125.5:c.73-780A>G|||||||rs2340589||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.7887|0.3926|0.8545|0.8839|0.9891|0.9734||||||||||0.8303|0.4748|1|0.8446|0.983|0.909|0.9931|0.9525|0.9904|0.8574|0.9675|1|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||1/12|ENST00000617307.5:c.73-780A>G|||||||rs2340589||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.7887|0.3926|0.8545|0.8839|0.9891|0.9734||||||||||0.8303|0.4748|1|0.8446|0.983|0.909|0.9931|0.9525|0.9904|0.8574|0.9675|1|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||1/9|ENST00000618181.5:c.73-780A>G|||||||rs2340589||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.7887|0.3926|0.8545|0.8839|0.9891|0.9734||||||||||0.8303|0.4748|1|0.8446|0.983|0.909|0.9931|0.9525|0.9904|0.8574|0.9675|1|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||2/13|ENST00000618323.5:c.610-780A>G|||||||rs2340589||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.7887|0.3926|0.8545|0.8839|0.9891|0.9734||||||||||0.8303|0.4748|1|0.8446|0.983|0.909|0.9931|0.9525|0.9904|0.8574|0.9675|1|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||1/11|ENST00000618779.5:c.73-780A>G|||||||rs2340589||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.7887|0.3926|0.8545|0.8839|0.9891|0.9734||||||||||0.8303|0.4748|1|0.8446|0.983|0.909|0.9931|0.9525|0.9904|0.8574|0.9675|1|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||1/12|ENST00000622503.5:c.73-780A>G|||||||rs2340589||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.7887|0.3926|0.8545|0.8839|0.9891|0.9734||||||||||0.8303|0.4748|1|0.8446|0.983|0.909|0.9931|0.9525|0.9904|0.8574|0.9675|1|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.75:3:0,1:0,1:0,2:0|1:929375_A_G:929375:0,0,1,2 -chr1 929377 . G A . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=3;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=41;POPAF=7.3;TLOD=13.02;SRC=snv;GRP=s001;CSQ=A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||||||||||rs2340588|935|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.7887|0.3926|0.8545|0.8839|0.9891|0.9734||||||||||0.8303|0.4749|1|0.8447|0.983|0.9094|0.9931|0.9525|0.9904|0.8576|0.9675|1|gnomADg_AMI|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||2/13|ENST00000342066.8:c.73-778G>A|||||||rs2340588||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.7887|0.3926|0.8545|0.8839|0.9891|0.9734||||||||||0.8303|0.4749|1|0.8447|0.983|0.9094|0.9931|0.9525|0.9904|0.8576|0.9675|1|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||2/4|ENST00000437963.5:c.73-778G>A|||||||rs2340588||1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.7887|0.3926|0.8545|0.8839|0.9891|0.9734||||||||||0.8303|0.4749|1|0.8447|0.983|0.9094|0.9931|0.9525|0.9904|0.8576|0.9675|1|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||2/13|ENST00000616016.5:c.610-778G>A|||||||rs2340588||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.7887|0.3926|0.8545|0.8839|0.9891|0.9734||||||||||0.8303|0.4749|1|0.8447|0.983|0.9094|0.9931|0.9525|0.9904|0.8576|0.9675|1|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||1/10|ENST00000616125.5:c.73-778G>A|||||||rs2340588||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.7887|0.3926|0.8545|0.8839|0.9891|0.9734||||||||||0.8303|0.4749|1|0.8447|0.983|0.9094|0.9931|0.9525|0.9904|0.8576|0.9675|1|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||1/12|ENST00000617307.5:c.73-778G>A|||||||rs2340588||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.7887|0.3926|0.8545|0.8839|0.9891|0.9734||||||||||0.8303|0.4749|1|0.8447|0.983|0.9094|0.9931|0.9525|0.9904|0.8576|0.9675|1|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||1/9|ENST00000618181.5:c.73-778G>A|||||||rs2340588||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.7887|0.3926|0.8545|0.8839|0.9891|0.9734||||||||||0.8303|0.4749|1|0.8447|0.983|0.9094|0.9931|0.9525|0.9904|0.8576|0.9675|1|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||2/13|ENST00000618323.5:c.610-778G>A|||||||rs2340588||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.7887|0.3926|0.8545|0.8839|0.9891|0.9734||||||||||0.8303|0.4749|1|0.8447|0.983|0.9094|0.9931|0.9525|0.9904|0.8576|0.9675|1|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||1/11|ENST00000618779.5:c.73-778G>A|||||||rs2340588||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.7887|0.3926|0.8545|0.8839|0.9891|0.9734||||||||||0.8303|0.4749|1|0.8447|0.983|0.9094|0.9931|0.9525|0.9904|0.8576|0.9675|1|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||1/12|ENST00000622503.5:c.73-778G>A|||||||rs2340588||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.7887|0.3926|0.8545|0.8839|0.9891|0.9734||||||||||0.8303|0.4749|1|0.8447|0.983|0.9094|0.9931|0.9525|0.9904|0.8576|0.9675|1|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.75:3:0,1:0,1:0,2:0|1:929375_A_G:929375:0,0,1,2 -chr1 929839 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=38;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=140;POPAF=7.3;TLOD=3.15;SRC=snv;GRP=s001;CSQ=A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||||||||||rs75551395|473|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.1627|0.0477|0.2363|0.0744|0.2117|0.3067||||||||||0.172|0.06491|0.378|0.2145|0.2486|0.06802|0.2047|0.1772|0.2158|0.1836|0.2819|0.378|gnomADg_AMI|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||2/13|ENST00000342066.8:c.73-316G>A|||||||rs75551395||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.1627|0.0477|0.2363|0.0744|0.2117|0.3067||||||||||0.172|0.06491|0.378|0.2145|0.2486|0.06802|0.2047|0.1772|0.2158|0.1836|0.2819|0.378|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||2/4|ENST00000437963.5:c.73-316G>A|||||||rs75551395||1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.1627|0.0477|0.2363|0.0744|0.2117|0.3067||||||||||0.172|0.06491|0.378|0.2145|0.2486|0.06802|0.2047|0.1772|0.2158|0.1836|0.2819|0.378|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||2/13|ENST00000616016.5:c.610-316G>A|||||||rs75551395||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.1627|0.0477|0.2363|0.0744|0.2117|0.3067||||||||||0.172|0.06491|0.378|0.2145|0.2486|0.06802|0.2047|0.1772|0.2158|0.1836|0.2819|0.378|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||1/10|ENST00000616125.5:c.73-316G>A|||||||rs75551395||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.1627|0.0477|0.2363|0.0744|0.2117|0.3067||||||||||0.172|0.06491|0.378|0.2145|0.2486|0.06802|0.2047|0.1772|0.2158|0.1836|0.2819|0.378|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||1/12|ENST00000617307.5:c.73-316G>A|||||||rs75551395||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.1627|0.0477|0.2363|0.0744|0.2117|0.3067||||||||||0.172|0.06491|0.378|0.2145|0.2486|0.06802|0.2047|0.1772|0.2158|0.1836|0.2819|0.378|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||1/9|ENST00000618181.5:c.73-316G>A|||||||rs75551395||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.1627|0.0477|0.2363|0.0744|0.2117|0.3067||||||||||0.172|0.06491|0.378|0.2145|0.2486|0.06802|0.2047|0.1772|0.2158|0.1836|0.2819|0.378|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||2/13|ENST00000618323.5:c.610-316G>A|||||||rs75551395||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.1627|0.0477|0.2363|0.0744|0.2117|0.3067||||||||||0.172|0.06491|0.378|0.2145|0.2486|0.06802|0.2047|0.1772|0.2158|0.1836|0.2819|0.378|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||1/11|ENST00000618779.5:c.73-316G>A|||||||rs75551395||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.1627|0.0477|0.2363|0.0744|0.2117|0.3067||||||||||0.172|0.06491|0.378|0.2145|0.2486|0.06802|0.2047|0.1772|0.2158|0.1836|0.2819|0.378|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||1/12|ENST00000622503.5:c.73-316G>A|||||||rs75551395||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.1627|0.0477|0.2363|0.0744|0.2117|0.3067||||||||||0.172|0.06491|0.378|0.2145|0.2486|0.06802|0.2047|0.1772|0.2158|0.1836|0.2819|0.378|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,1:0.5:2:0,0:1,1:1,1:1,0,1,0 -chr1 930939 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=57;POPAF=7.3;TLOD=7.25;SRC=snv;GRP=s001;CSQ=A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||1/11|ENST00000341065.8:c.26-100G>A|||||||rs9988021||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.9535|0.8313|0.9914|0.998|1|0.998||||||||||0.9603|0.8656|1|0.9819|1|0.9994|0.999|0.9747|0.9988|0.9651|0.9969|1|EUR&gnomADg_AMI&gnomADg_ASJ|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||3/13|ENST00000342066.8:c.255-100G>A|||||||rs9988021||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.9535|0.8313|0.9914|0.998|1|0.998||||||||||0.9603|0.8656|1|0.9819|1|0.9994|0.999|0.9747|0.9988|0.9651|0.9969|1|EUR&gnomADg_AMI&gnomADg_ASJ|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||3/4|ENST00000437963.5:c.255-100G>A|||||||rs9988021||1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.9535|0.8313|0.9914|0.998|1|0.998||||||||||0.9603|0.8656|1|0.9819|1|0.9994|0.999|0.9747|0.9988|0.9651|0.9969|1|EUR&gnomADg_AMI&gnomADg_ASJ|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||3/13|ENST00000616016.5:c.792-100G>A|||||||rs9988021||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.9535|0.8313|0.9914|0.998|1|0.998||||||||||0.9603|0.8656|1|0.9819|1|0.9994|0.999|0.9747|0.9988|0.9651|0.9969|1|EUR&gnomADg_AMI&gnomADg_ASJ|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||2/10|ENST00000616125.5:c.255-100G>A|||||||rs9988021||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.9535|0.8313|0.9914|0.998|1|0.998||||||||||0.9603|0.8656|1|0.9819|1|0.9994|0.999|0.9747|0.9988|0.9651|0.9969|1|EUR&gnomADg_AMI&gnomADg_ASJ|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||2/12|ENST00000617307.5:c.255-100G>A|||||||rs9988021||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.9535|0.8313|0.9914|0.998|1|0.998||||||||||0.9603|0.8656|1|0.9819|1|0.9994|0.999|0.9747|0.9988|0.9651|0.9969|1|EUR&gnomADg_AMI&gnomADg_ASJ|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||2/9|ENST00000618181.5:c.254+603G>A|||||||rs9988021||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.9535|0.8313|0.9914|0.998|1|0.998||||||||||0.9603|0.8656|1|0.9819|1|0.9994|0.999|0.9747|0.9988|0.9651|0.9969|1|EUR&gnomADg_AMI&gnomADg_ASJ|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||3/13|ENST00000618323.5:c.792-100G>A|||||||rs9988021||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.9535|0.8313|0.9914|0.998|1|0.998||||||||||0.9603|0.8656|1|0.9819|1|0.9994|0.999|0.9747|0.9988|0.9651|0.9969|1|EUR&gnomADg_AMI&gnomADg_ASJ|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||2/11|ENST00000618779.5:c.255-100G>A|||||||rs9988021||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.9535|0.8313|0.9914|0.998|1|0.998||||||||||0.9603|0.8656|1|0.9819|1|0.9994|0.999|0.9747|0.9988|0.9651|0.9969|1|EUR&gnomADg_AMI&gnomADg_ASJ|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||2/12|ENST00000622503.5:c.255-100G>A|||||||rs9988021||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.9535|0.8313|0.9914|0.998|1|0.998||||||||||0.9603|0.8656|1|0.9819|1|0.9994|0.999|0.9747|0.9988|0.9651|0.9969|1|EUR&gnomADg_AMI&gnomADg_ASJ|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 931513 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=1%2C0|1%2C1;DP=3;ECNT=3;GERMQ=38;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=84;POPAF=7.3;TLOD=6.58;SRC=snv;GRP=s001;CSQ=C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||2/11|ENST00000341065.8:c.76+424T>C|||||||rs2880024||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.3656|0.1021|0.4395|0.3214|0.5785|0.4959||||||||||0.4501|0.1716|0.4484|0.4701|0.6112|0.3431|0.498|0.5759|0.6014|0.4856|0.5116|0.6112|gnomADg_ASJ|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||4/13|ENST00000342066.8:c.305+424T>C|||||||rs2880024||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.3656|0.1021|0.4395|0.3214|0.5785|0.4959||||||||||0.4501|0.1716|0.4484|0.4701|0.6112|0.3431|0.498|0.5759|0.6014|0.4856|0.5116|0.6112|gnomADg_ASJ|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||4/4|ENST00000437963.5:c.305+424T>C|||||||rs2880024||1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.3656|0.1021|0.4395|0.3214|0.5785|0.4959||||||||||0.4501|0.1716|0.4484|0.4701|0.6112|0.3431|0.498|0.5759|0.6014|0.4856|0.5116|0.6112|gnomADg_ASJ|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||4/13|ENST00000616016.5:c.842+424T>C|||||||rs2880024||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.3656|0.1021|0.4395|0.3214|0.5785|0.4959||||||||||0.4501|0.1716|0.4484|0.4701|0.6112|0.3431|0.498|0.5759|0.6014|0.4856|0.5116|0.6112|gnomADg_ASJ|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||3/10|ENST00000616125.5:c.305+424T>C|||||||rs2880024||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.3656|0.1021|0.4395|0.3214|0.5785|0.4959||||||||||0.4501|0.1716|0.4484|0.4701|0.6112|0.3431|0.498|0.5759|0.6014|0.4856|0.5116|0.6112|gnomADg_ASJ|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||3/12|ENST00000617307.5:c.305+424T>C|||||||rs2880024||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.3656|0.1021|0.4395|0.3214|0.5785|0.4959||||||||||0.4501|0.1716|0.4484|0.4701|0.6112|0.3431|0.498|0.5759|0.6014|0.4856|0.5116|0.6112|gnomADg_ASJ|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||2/9|ENST00000618181.5:c.254+1177T>C|||||||rs2880024||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.3656|0.1021|0.4395|0.3214|0.5785|0.4959||||||||||0.4501|0.1716|0.4484|0.4701|0.6112|0.3431|0.498|0.5759|0.6014|0.4856|0.5116|0.6112|gnomADg_ASJ|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||4/13|ENST00000618323.5:c.842+424T>C|||||||rs2880024||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.3656|0.1021|0.4395|0.3214|0.5785|0.4959||||||||||0.4501|0.1716|0.4484|0.4701|0.6112|0.3431|0.498|0.5759|0.6014|0.4856|0.5116|0.6112|gnomADg_ASJ|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||3/11|ENST00000618779.5:c.305+424T>C|||||||rs2880024||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.3656|0.1021|0.4395|0.3214|0.5785|0.4959||||||||||0.4501|0.1716|0.4484|0.4701|0.6112|0.3431|0.498|0.5759|0.6014|0.4856|0.5116|0.6112|gnomADg_ASJ|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||3/12|ENST00000622503.5:c.305+424T>C|||||||rs2880024||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.3656|0.1021|0.4395|0.3214|0.5785|0.4959||||||||||0.4501|0.1716|0.4484|0.4701|0.6112|0.3431|0.498|0.5759|0.6014|0.4856|0.5116|0.6112|gnomADg_ASJ|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,2:0.5:3:0,0:1,1:1,1:1,0,1,1 -chr1 931540 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=3;GERMQ=52;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=114;POPAF=7.3;TLOD=14.23;SRC=snv;GRP=s001;CSQ=G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||2/11|ENST00000341065.8:c.76+451A>G|||||||rs2341361||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.9992|1|1|0.998|1|0.998||||||||||0.9996|0.9993|1|0.9999|1|0.9994|1|1|0.9999|1|0.9973|1|AFR&AMR&EUR&gnomADg_AMI&gnomADg_ASJ&gnomADg_FIN&gnomADg_MID&gnomADg_OTH|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||4/13|ENST00000342066.8:c.305+451A>G|||||||rs2341361||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.9992|1|1|0.998|1|0.998||||||||||0.9996|0.9993|1|0.9999|1|0.9994|1|1|0.9999|1|0.9973|1|AFR&AMR&EUR&gnomADg_AMI&gnomADg_ASJ&gnomADg_FIN&gnomADg_MID&gnomADg_OTH|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||4/4|ENST00000437963.5:c.305+451A>G|||||||rs2341361||1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.9992|1|1|0.998|1|0.998||||||||||0.9996|0.9993|1|0.9999|1|0.9994|1|1|0.9999|1|0.9973|1|AFR&AMR&EUR&gnomADg_AMI&gnomADg_ASJ&gnomADg_FIN&gnomADg_MID&gnomADg_OTH|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||4/13|ENST00000616016.5:c.842+451A>G|||||||rs2341361||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.9992|1|1|0.998|1|0.998||||||||||0.9996|0.9993|1|0.9999|1|0.9994|1|1|0.9999|1|0.9973|1|AFR&AMR&EUR&gnomADg_AMI&gnomADg_ASJ&gnomADg_FIN&gnomADg_MID&gnomADg_OTH|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||3/10|ENST00000616125.5:c.305+451A>G|||||||rs2341361||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.9992|1|1|0.998|1|0.998||||||||||0.9996|0.9993|1|0.9999|1|0.9994|1|1|0.9999|1|0.9973|1|AFR&AMR&EUR&gnomADg_AMI&gnomADg_ASJ&gnomADg_FIN&gnomADg_MID&gnomADg_OTH|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||3/12|ENST00000617307.5:c.305+451A>G|||||||rs2341361||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.9992|1|1|0.998|1|0.998||||||||||0.9996|0.9993|1|0.9999|1|0.9994|1|1|0.9999|1|0.9973|1|AFR&AMR&EUR&gnomADg_AMI&gnomADg_ASJ&gnomADg_FIN&gnomADg_MID&gnomADg_OTH|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||2/9|ENST00000618181.5:c.254+1204A>G|||||||rs2341361||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.9992|1|1|0.998|1|0.998||||||||||0.9996|0.9993|1|0.9999|1|0.9994|1|1|0.9999|1|0.9973|1|AFR&AMR&EUR&gnomADg_AMI&gnomADg_ASJ&gnomADg_FIN&gnomADg_MID&gnomADg_OTH|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||4/13|ENST00000618323.5:c.842+451A>G|||||||rs2341361||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.9992|1|1|0.998|1|0.998||||||||||0.9996|0.9993|1|0.9999|1|0.9994|1|1|0.9999|1|0.9973|1|AFR&AMR&EUR&gnomADg_AMI&gnomADg_ASJ&gnomADg_FIN&gnomADg_MID&gnomADg_OTH|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||3/11|ENST00000618779.5:c.305+451A>G|||||||rs2341361||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.9992|1|1|0.998|1|0.998||||||||||0.9996|0.9993|1|0.9999|1|0.9994|1|1|0.9999|1|0.9973|1|AFR&AMR&EUR&gnomADg_AMI&gnomADg_ASJ&gnomADg_FIN&gnomADg_MID&gnomADg_OTH|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||3/12|ENST00000622503.5:c.305+451A>G|||||||rs2341361||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.9992|1|1|0.998|1|0.998||||||||||0.9996|0.9993|1|0.9999|1|0.9994|1|1|0.9999|1|0.9973|1|AFR&AMR&EUR&gnomADg_AMI&gnomADg_ASJ&gnomADg_FIN&gnomADg_MID&gnomADg_OTH|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 931558 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=2%2C1|2%2C1;DP=6;ECNT=3;GERMQ=37;MBQ=32,32;MFRL=0,0;MMQ=60,60;MPOS=99;POPAF=7.3;TLOD=9.35;SRC=snv;GRP=s001;CSQ=A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||2/11|ENST00000341065.8:c.76+469G>A|||||||rs74047407||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.2788|0.2035|0.2536|0.375|0.2207|0.3589||||||||||0.2363|0.2025|0.4084|0.2503|0.2689|0.3782|0.2414|0.2278|0.2311|0.2385|0.3333|0.4084|gnomADg_AMI|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||4/13|ENST00000342066.8:c.305+469G>A|||||||rs74047407||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.2788|0.2035|0.2536|0.375|0.2207|0.3589||||||||||0.2363|0.2025|0.4084|0.2503|0.2689|0.3782|0.2414|0.2278|0.2311|0.2385|0.3333|0.4084|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||4/4|ENST00000437963.5:c.305+469G>A|||||||rs74047407||1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.2788|0.2035|0.2536|0.375|0.2207|0.3589||||||||||0.2363|0.2025|0.4084|0.2503|0.2689|0.3782|0.2414|0.2278|0.2311|0.2385|0.3333|0.4084|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||4/13|ENST00000616016.5:c.842+469G>A|||||||rs74047407||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.2788|0.2035|0.2536|0.375|0.2207|0.3589||||||||||0.2363|0.2025|0.4084|0.2503|0.2689|0.3782|0.2414|0.2278|0.2311|0.2385|0.3333|0.4084|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||3/10|ENST00000616125.5:c.305+469G>A|||||||rs74047407||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.2788|0.2035|0.2536|0.375|0.2207|0.3589||||||||||0.2363|0.2025|0.4084|0.2503|0.2689|0.3782|0.2414|0.2278|0.2311|0.2385|0.3333|0.4084|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||3/12|ENST00000617307.5:c.305+469G>A|||||||rs74047407||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.2788|0.2035|0.2536|0.375|0.2207|0.3589||||||||||0.2363|0.2025|0.4084|0.2503|0.2689|0.3782|0.2414|0.2278|0.2311|0.2385|0.3333|0.4084|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||2/9|ENST00000618181.5:c.254+1222G>A|||||||rs74047407||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.2788|0.2035|0.2536|0.375|0.2207|0.3589||||||||||0.2363|0.2025|0.4084|0.2503|0.2689|0.3782|0.2414|0.2278|0.2311|0.2385|0.3333|0.4084|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||4/13|ENST00000618323.5:c.842+469G>A|||||||rs74047407||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.2788|0.2035|0.2536|0.375|0.2207|0.3589||||||||||0.2363|0.2025|0.4084|0.2503|0.2689|0.3782|0.2414|0.2278|0.2311|0.2385|0.3333|0.4084|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||3/11|ENST00000618779.5:c.305+469G>A|||||||rs74047407||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.2788|0.2035|0.2536|0.375|0.2207|0.3589||||||||||0.2363|0.2025|0.4084|0.2503|0.2689|0.3782|0.2414|0.2278|0.2311|0.2385|0.3333|0.4084|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||3/12|ENST00000622503.5:c.305+469G>A|||||||rs74047407||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.2788|0.2035|0.2536|0.375|0.2207|0.3589||||||||||0.2363|0.2025|0.4084|0.2503|0.2689|0.3782|0.2414|0.2278|0.2311|0.2385|0.3333|0.4084|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,3:0.5:6:0,0:2,2:2,2:2,1,2,1 -chr1 932204 . A T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=2;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=28;POPAF=7.3;TLOD=3.48;SRC=snv;GRP=s001;CSQ=T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||2/11|ENST00000341065.8:c.76+1115A>T|||||||rs2341360||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.9545|0.8336|0.9928|0.998|1|0.999||||||||||0.9623|0.8715|1|0.9825|1|0.9994|0.999|1|0.9993|0.9666|0.9973|1|EUR&gnomADg_AMI&gnomADg_ASJ&gnomADg_MID|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||4/13|ENST00000342066.8:c.305+1115A>T|||||||rs2341360||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.9545|0.8336|0.9928|0.998|1|0.999||||||||||0.9623|0.8715|1|0.9825|1|0.9994|0.999|1|0.9993|0.9666|0.9973|1|EUR&gnomADg_AMI&gnomADg_ASJ&gnomADg_MID|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||4/4|ENST00000437963.5:c.305+1115A>T|||||||rs2341360||1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.9545|0.8336|0.9928|0.998|1|0.999||||||||||0.9623|0.8715|1|0.9825|1|0.9994|0.999|1|0.9993|0.9666|0.9973|1|EUR&gnomADg_AMI&gnomADg_ASJ&gnomADg_MID|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||4/13|ENST00000616016.5:c.842+1115A>T|||||||rs2341360||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.9545|0.8336|0.9928|0.998|1|0.999||||||||||0.9623|0.8715|1|0.9825|1|0.9994|0.999|1|0.9993|0.9666|0.9973|1|EUR&gnomADg_AMI&gnomADg_ASJ&gnomADg_MID|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||3/10|ENST00000616125.5:c.305+1115A>T|||||||rs2341360||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.9545|0.8336|0.9928|0.998|1|0.999||||||||||0.9623|0.8715|1|0.9825|1|0.9994|0.999|1|0.9993|0.9666|0.9973|1|EUR&gnomADg_AMI&gnomADg_ASJ&gnomADg_MID|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||3/12|ENST00000617307.5:c.305+1115A>T|||||||rs2341360||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.9545|0.8336|0.9928|0.998|1|0.999||||||||||0.9623|0.8715|1|0.9825|1|0.9994|0.999|1|0.9993|0.9666|0.9973|1|EUR&gnomADg_AMI&gnomADg_ASJ&gnomADg_MID|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||2/9|ENST00000618181.5:c.254+1868A>T|||||||rs2341360||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.9545|0.8336|0.9928|0.998|1|0.999||||||||||0.9623|0.8715|1|0.9825|1|0.9994|0.999|1|0.9993|0.9666|0.9973|1|EUR&gnomADg_AMI&gnomADg_ASJ&gnomADg_MID|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||4/13|ENST00000618323.5:c.842+1115A>T|||||||rs2341360||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.9545|0.8336|0.9928|0.998|1|0.999||||||||||0.9623|0.8715|1|0.9825|1|0.9994|0.999|1|0.9993|0.9666|0.9973|1|EUR&gnomADg_AMI&gnomADg_ASJ&gnomADg_MID|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||3/11|ENST00000618779.5:c.305+1115A>T|||||||rs2341360||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.9545|0.8336|0.9928|0.998|1|0.999||||||||||0.9623|0.8715|1|0.9825|1|0.9994|0.999|1|0.9993|0.9666|0.9973|1|EUR&gnomADg_AMI&gnomADg_ASJ&gnomADg_MID|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||3/12|ENST00000622503.5:c.305+1115A>T|||||||rs2341360||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.9545|0.8336|0.9928|0.998|1|0.999||||||||||0.9623|0.8715|1|0.9825|1|0.9994|0.999|1|0.9993|0.9666|0.9973|1|EUR&gnomADg_AMI&gnomADg_ASJ&gnomADg_MID|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164801|open_chromatin_region||||||||||rs2341360||||SNV||||||||||||||||||||0.9545|0.8336|0.9928|0.998|1|0.999||||||||||0.9623|0.8715|1|0.9825|1|0.9994|0.999|1|0.9993|0.9666|0.9973|1|EUR&gnomADg_AMI&gnomADg_ASJ&gnomADg_MID||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 932255 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|2%2C1;DP=5;ECNT=2;GERMQ=37;MBQ=33,31;MFRL=0,0;MMQ=60,60;MPOS=101;POPAF=7.3;TLOD=9.65;SRC=snv;GRP=s001;CSQ=T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||2/11|ENST00000341065.8:c.76+1166C>T|||||||rs76964081||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.1597|0.0401|0.2392|0.0734|0.2087|0.3037||||||||||0.1718|0.06203|0.3794|0.2208|0.2488|0.0738|0.2046|0.1835|0.2152|0.1821|0.2812|0.3794|gnomADg_AMI|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||4/13|ENST00000342066.8:c.305+1166C>T|||||||rs76964081||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.1597|0.0401|0.2392|0.0734|0.2087|0.3037||||||||||0.1718|0.06203|0.3794|0.2208|0.2488|0.0738|0.2046|0.1835|0.2152|0.1821|0.2812|0.3794|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||4/4|ENST00000437963.5:c.305+1166C>T|||||||rs76964081||1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.1597|0.0401|0.2392|0.0734|0.2087|0.3037||||||||||0.1718|0.06203|0.3794|0.2208|0.2488|0.0738|0.2046|0.1835|0.2152|0.1821|0.2812|0.3794|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||4/13|ENST00000616016.5:c.842+1166C>T|||||||rs76964081||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.1597|0.0401|0.2392|0.0734|0.2087|0.3037||||||||||0.1718|0.06203|0.3794|0.2208|0.2488|0.0738|0.2046|0.1835|0.2152|0.1821|0.2812|0.3794|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||3/10|ENST00000616125.5:c.305+1166C>T|||||||rs76964081||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.1597|0.0401|0.2392|0.0734|0.2087|0.3037||||||||||0.1718|0.06203|0.3794|0.2208|0.2488|0.0738|0.2046|0.1835|0.2152|0.1821|0.2812|0.3794|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||3/12|ENST00000617307.5:c.305+1166C>T|||||||rs76964081||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.1597|0.0401|0.2392|0.0734|0.2087|0.3037||||||||||0.1718|0.06203|0.3794|0.2208|0.2488|0.0738|0.2046|0.1835|0.2152|0.1821|0.2812|0.3794|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||2/9|ENST00000618181.5:c.254+1919C>T|||||||rs76964081||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.1597|0.0401|0.2392|0.0734|0.2087|0.3037||||||||||0.1718|0.06203|0.3794|0.2208|0.2488|0.0738|0.2046|0.1835|0.2152|0.1821|0.2812|0.3794|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||4/13|ENST00000618323.5:c.842+1166C>T|||||||rs76964081||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.1597|0.0401|0.2392|0.0734|0.2087|0.3037||||||||||0.1718|0.06203|0.3794|0.2208|0.2488|0.0738|0.2046|0.1835|0.2152|0.1821|0.2812|0.3794|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||3/11|ENST00000618779.5:c.305+1166C>T|||||||rs76964081||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.1597|0.0401|0.2392|0.0734|0.2087|0.3037||||||||||0.1718|0.06203|0.3794|0.2208|0.2488|0.0738|0.2046|0.1835|0.2152|0.1821|0.2812|0.3794|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||3/12|ENST00000622503.5:c.305+1166C>T|||||||rs76964081||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.1597|0.0401|0.2392|0.0734|0.2087|0.3037||||||||||0.1718|0.06203|0.3794|0.2208|0.2488|0.0738|0.2046|0.1835|0.2152|0.1821|0.2812|0.3794|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164801|open_chromatin_region||||||||||rs76964081||||SNV||||||||||||||||||||0.1597|0.0401|0.2392|0.0734|0.2087|0.3037||||||||||0.1718|0.06203|0.3794|0.2208|0.2488|0.0738|0.2046|0.1835|0.2152|0.1821|0.2812|0.3794|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,3:0.6:5:0,0:1,2:1,2:1,1,2,1 -chr1 932512 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C1|1%2C1;DP=3;ECNT=1;GERMQ=38;MBQ=31,33;MFRL=0,0;MMQ=60,60;MPOS=104;POPAF=7.3;TLOD=6.45;SRC=snv;GRP=s001;CSQ=A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||2/11|ENST00000341065.8:c.76+1423G>A|||||||rs369483837||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.0018|0|0|0|0.007|0.002||||||||||0.003436|0.0006513|0|0.003925|0.01671|0|0.001506|0.009494|0.004689|0.005736|0.005795|0.01671|gnomADg_ASJ|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||4/13|ENST00000342066.8:c.305+1423G>A|||||||rs369483837||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.0018|0|0|0|0.007|0.002||||||||||0.003436|0.0006513|0|0.003925|0.01671|0|0.001506|0.009494|0.004689|0.005736|0.005795|0.01671|gnomADg_ASJ|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||4/4|ENST00000437963.5:c.305+1423G>A|||||||rs369483837||1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.0018|0|0|0|0.007|0.002||||||||||0.003436|0.0006513|0|0.003925|0.01671|0|0.001506|0.009494|0.004689|0.005736|0.005795|0.01671|gnomADg_ASJ|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||4/13|ENST00000616016.5:c.842+1423G>A|||||||rs369483837||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.0018|0|0|0|0.007|0.002||||||||||0.003436|0.0006513|0|0.003925|0.01671|0|0.001506|0.009494|0.004689|0.005736|0.005795|0.01671|gnomADg_ASJ|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||3/10|ENST00000616125.5:c.305+1423G>A|||||||rs369483837||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.0018|0|0|0|0.007|0.002||||||||||0.003436|0.0006513|0|0.003925|0.01671|0|0.001506|0.009494|0.004689|0.005736|0.005795|0.01671|gnomADg_ASJ|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||3/12|ENST00000617307.5:c.305+1423G>A|||||||rs369483837||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.0018|0|0|0|0.007|0.002||||||||||0.003436|0.0006513|0|0.003925|0.01671|0|0.001506|0.009494|0.004689|0.005736|0.005795|0.01671|gnomADg_ASJ|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||2/9|ENST00000618181.5:c.254+2176G>A|||||||rs369483837||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.0018|0|0|0|0.007|0.002||||||||||0.003436|0.0006513|0|0.003925|0.01671|0|0.001506|0.009494|0.004689|0.005736|0.005795|0.01671|gnomADg_ASJ|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||4/13|ENST00000618323.5:c.842+1423G>A|||||||rs369483837||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.0018|0|0|0|0.007|0.002||||||||||0.003436|0.0006513|0|0.003925|0.01671|0|0.001506|0.009494|0.004689|0.005736|0.005795|0.01671|gnomADg_ASJ|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||3/11|ENST00000618779.5:c.305+1423G>A|||||||rs369483837||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.0018|0|0|0|0.007|0.002||||||||||0.003436|0.0006513|0|0.003925|0.01671|0|0.001506|0.009494|0.004689|0.005736|0.005795|0.01671|gnomADg_ASJ|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||3/12|ENST00000622503.5:c.305+1423G>A|||||||rs369483837||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.0018|0|0|0|0.007|0.002||||||||||0.003436|0.0006513|0|0.003925|0.01671|0|0.001506|0.009494|0.004689|0.005736|0.005795|0.01671|gnomADg_ASJ|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,2:0.5:3:1,0:0,1:1,1:0,1,1,1 -chr1 933511 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=2;GERMQ=46;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=73;POPAF=7.3;TLOD=7.55;SRC=snv;GRP=s001;CSQ=G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||2/11|ENST00000341065.8:c.77-2261A>G|||||||rs13303066||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.9631|0.8691|0.9914|0.998|0.998|0.998||||||||||0.9662|0.8872|1|0.9838|0.9977|0.9994|0.999|0.9937|0.9981|0.9689|0.9969|1|gnomADg_AMI|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||4/13|ENST00000342066.8:c.306-2261A>G|||||||rs13303066||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.9631|0.8691|0.9914|0.998|0.998|0.998||||||||||0.9662|0.8872|1|0.9838|0.9977|0.9994|0.999|0.9937|0.9981|0.9689|0.9969|1|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||4/4|ENST00000437963.5:c.306-2261A>G|||||||rs13303066||1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.9631|0.8691|0.9914|0.998|0.998|0.998||||||||||0.9662|0.8872|1|0.9838|0.9977|0.9994|0.999|0.9937|0.9981|0.9689|0.9969|1|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||4/13|ENST00000616016.5:c.843-2261A>G|||||||rs13303066||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.9631|0.8691|0.9914|0.998|0.998|0.998||||||||||0.9662|0.8872|1|0.9838|0.9977|0.9994|0.999|0.9937|0.9981|0.9689|0.9969|1|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||3/10|ENST00000616125.5:c.306-2261A>G|||||||rs13303066||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.9631|0.8691|0.9914|0.998|0.998|0.998||||||||||0.9662|0.8872|1|0.9838|0.9977|0.9994|0.999|0.9937|0.9981|0.9689|0.9969|1|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||3/12|ENST00000617307.5:c.306-2261A>G|||||||rs13303066||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.9631|0.8691|0.9914|0.998|0.998|0.998||||||||||0.9662|0.8872|1|0.9838|0.9977|0.9994|0.999|0.9937|0.9981|0.9689|0.9969|1|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||2/9|ENST00000618181.5:c.255-2261A>G|||||||rs13303066||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.9631|0.8691|0.9914|0.998|0.998|0.998||||||||||0.9662|0.8872|1|0.9838|0.9977|0.9994|0.999|0.9937|0.9981|0.9689|0.9969|1|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||4/13|ENST00000618323.5:c.843-2261A>G|||||||rs13303066||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.9631|0.8691|0.9914|0.998|0.998|0.998||||||||||0.9662|0.8872|1|0.9838|0.9977|0.9994|0.999|0.9937|0.9981|0.9689|0.9969|1|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||3/11|ENST00000618779.5:c.306-2261A>G|||||||rs13303066||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.9631|0.8691|0.9914|0.998|0.998|0.998||||||||||0.9662|0.8872|1|0.9838|0.9977|0.9994|0.999|0.9937|0.9981|0.9689|0.9969|1|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||3/12|ENST00000622503.5:c.306-2261A>G|||||||rs13303066||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.9631|0.8691|0.9914|0.998|0.998|0.998||||||||||0.9662|0.8872|1|0.9838|0.9977|0.9994|0.999|0.9937|0.9981|0.9689|0.9969|1|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918368|enhancer||||||||||rs13303066||||SNV||||||||||||||||||||0.9631|0.8691|0.9914|0.998|0.998|0.998||||||||||0.9662|0.8872|1|0.9838|0.9977|0.9994|0.999|0.9937|0.9981|0.9689|0.9969|1|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 936972 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=1;GERMQ=52;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=98;POPAF=7.3;TLOD=14.73;SRC=snv;GRP=s001;CSQ=C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||3/11|ENST00000341065.8:c.201+1076G>C|||||||rs1806780||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.3520|0.4955|0.3905|0.2321|0.2803|0.3282||||||||||0.3417|0.4645|0.4167|0.3786|0.3045|0.206|0.3145|0.269|0.2761|0.3211|0.3294|0.4955|AFR|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||5/13|ENST00000342066.8:c.430+1076G>C|||||||rs1806780||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.3520|0.4955|0.3905|0.2321|0.2803|0.3282||||||||||0.3417|0.4645|0.4167|0.3786|0.3045|0.206|0.3145|0.269|0.2761|0.3211|0.3294|0.4955|AFR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||||||||||rs1806780|1179|1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.3520|0.4955|0.3905|0.2321|0.2803|0.3282||||||||||0.3417|0.4645|0.4167|0.3786|0.3045|0.206|0.3145|0.269|0.2761|0.3211|0.3294|0.4955|AFR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,C|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000455979|protein_coding||||||||||rs1806780|2303|1|cds_start_NF|SNV|HGNC|HGNC:28706||||2|||ENSP00000412228||H7C3J6.55|UPI000155D479||1||||||0.3520|0.4955|0.3905|0.2321|0.2803|0.3282||||||||||0.3417|0.4645|0.4167|0.3786|0.3045|0.206|0.3145|0.269|0.2761|0.3211|0.3294|0.4955|AFR|||||||||||XALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVRRWGVRSGSPDHSWAESSGWVCDSPHQAISLQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000474461|retained_intron||||||||||rs1806780|4104|1||SNV|HGNC|HGNC:28706||||5||||||||1||||||0.3520|0.4955|0.3905|0.2321|0.2803|0.3282||||||||||0.3417|0.4645|0.4167|0.3786|0.3045|0.206|0.3145|0.269|0.2761|0.3211|0.3294|0.4955|AFR|||||||||||||,C|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000478729|protein_coding_CDS_not_defined||||||||||rs1806780|3374|1||SNV|HGNC|HGNC:28706||||5||||||||1||||||0.3520|0.4955|0.3905|0.2321|0.2803|0.3282||||||||||0.3417|0.4645|0.4167|0.3786|0.3045|0.206|0.3145|0.269|0.2761|0.3211|0.3294|0.4955|AFR|||||||||||||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||5/13|ENST00000616016.5:c.967+1076G>C|||||||rs1806780||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.3520|0.4955|0.3905|0.2321|0.2803|0.3282||||||||||0.3417|0.4645|0.4167|0.3786|0.3045|0.206|0.3145|0.269|0.2761|0.3211|0.3294|0.4955|AFR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||4/10|ENST00000616125.5:c.430+1076G>C|||||||rs1806780||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.3520|0.4955|0.3905|0.2321|0.2803|0.3282||||||||||0.3417|0.4645|0.4167|0.3786|0.3045|0.206|0.3145|0.269|0.2761|0.3211|0.3294|0.4955|AFR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||4/12|ENST00000617307.5:c.430+1076G>C|||||||rs1806780||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.3520|0.4955|0.3905|0.2321|0.2803|0.3282||||||||||0.3417|0.4645|0.4167|0.3786|0.3045|0.206|0.3145|0.269|0.2761|0.3211|0.3294|0.4955|AFR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||3/9|ENST00000618181.5:c.379+1076G>C|||||||rs1806780||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.3520|0.4955|0.3905|0.2321|0.2803|0.3282||||||||||0.3417|0.4645|0.4167|0.3786|0.3045|0.206|0.3145|0.269|0.2761|0.3211|0.3294|0.4955|AFR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||5/13|ENST00000618323.5:c.967+1076G>C|||||||rs1806780||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.3520|0.4955|0.3905|0.2321|0.2803|0.3282||||||||||0.3417|0.4645|0.4167|0.3786|0.3045|0.206|0.3145|0.269|0.2761|0.3211|0.3294|0.4955|AFR|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||4/11|ENST00000618779.5:c.430+1076G>C|||||||rs1806780||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.3520|0.4955|0.3905|0.2321|0.2803|0.3282||||||||||0.3417|0.4645|0.4167|0.3786|0.3045|0.206|0.3145|0.269|0.2761|0.3211|0.3294|0.4955|AFR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||4/12|ENST00000622503.5:c.430+1076G>C|||||||rs1806780||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.3520|0.4955|0.3905|0.2321|0.2803|0.3282||||||||||0.3417|0.4645|0.4167|0.3786|0.3045|0.206|0.3145|0.269|0.2761|0.3211|0.3294|0.4955|AFR|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 938222 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=3;POPAF=7.3;TLOD=7.05;SRC=snv;GRP=s001;CSQ=A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||3/11|ENST00000341065.8:c.202-818G>A|||||||||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||||||||||||||||||||||||||||||||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||5/13|ENST00000342066.8:c.431-818G>A|||||||||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding|||||||||||2429|1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000455979|protein_coding|||||||||||1053|1|cds_start_NF|SNV|HGNC|HGNC:28706||||2|||ENSP00000412228||H7C3J6.55|UPI000155D479||1||||||||||||||||||||||||||||||||||||||||||||XALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVRRWGVRSGSPDHSWAESSGWVCDSPHQAISLQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000464948|retained_intron|||||||||||3944|1||SNV|HGNC|HGNC:28706||||2||||||||1||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000466827|retained_intron|||||||||||3881|1||SNV|HGNC|HGNC:28706||||3||||||||1||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000474461|retained_intron|||||||||||2854|1||SNV|HGNC|HGNC:28706||||5||||||||1||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000478729|protein_coding_CDS_not_defined|||||||||||2124|1||SNV|HGNC|HGNC:28706||||5||||||||1||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||5/13|ENST00000616016.5:c.968-818G>A|||||||||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||||||||||||||||||||||||||||||||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||4/10|ENST00000616125.5:c.431-818G>A|||||||||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||4/12|ENST00000617307.5:c.431-818G>A|||||||||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||3/9|ENST00000618181.5:c.380-818G>A|||||||||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||5/13|ENST00000618323.5:c.968-818G>A|||||||||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||||||||||||||||||||||||||||||||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||4/11|ENST00000618779.5:c.431-818G>A|||||||||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||4/12|ENST00000622503.5:c.431-818G>A|||||||||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344437|CTCF_binding_site||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 938650 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=147;POPAF=7.3;TLOD=3.28;SRC=snv;GRP=s001;CSQ=A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||3/11|ENST00000341065.8:c.202-390G>A|||||||rs553044462||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.0002|0|0|0.001|0|0||||||||||6.571e-06|0|0|0|0|0.0001925|0|0|0|0|0|0.001|EAS|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||5/13|ENST00000342066.8:c.431-390G>A|||||||rs553044462||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.0002|0|0|0.001|0|0||||||||||6.571e-06|0|0|0|0|0.0001925|0|0|0|0|0|0.001|EAS|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding||||||||||rs553044462|2857|1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||0.0002|0|0|0.001|0|0||||||||||6.571e-06|0|0|0|0|0.0001925|0|0|0|0|0|0.001|EAS|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000455979|protein_coding||||||||||rs553044462|625|1|cds_start_NF|SNV|HGNC|HGNC:28706||||2|||ENSP00000412228||H7C3J6.55|UPI000155D479||1||||||0.0002|0|0|0.001|0|0||||||||||6.571e-06|0|0|0|0|0.0001925|0|0|0|0|0|0.001|EAS|||||||||||XALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVRRWGVRSGSPDHSWAESSGWVCDSPHQAISLQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000464948|retained_intron||||||||||rs553044462|3516|1||SNV|HGNC|HGNC:28706||||2||||||||1||||||0.0002|0|0|0.001|0|0||||||||||6.571e-06|0|0|0|0|0.0001925|0|0|0|0|0|0.001|EAS|||||||||||||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000466827|retained_intron||||||||||rs553044462|3453|1||SNV|HGNC|HGNC:28706||||3||||||||1||||||0.0002|0|0|0.001|0|0||||||||||6.571e-06|0|0|0|0|0.0001925|0|0|0|0|0|0.001|EAS|||||||||||||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000474461|retained_intron||||||||||rs553044462|2426|1||SNV|HGNC|HGNC:28706||||5||||||||1||||||0.0002|0|0|0.001|0|0||||||||||6.571e-06|0|0|0|0|0.0001925|0|0|0|0|0|0.001|EAS|||||||||||||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000478729|protein_coding_CDS_not_defined||||||||||rs553044462|1696|1||SNV|HGNC|HGNC:28706||||5||||||||1||||||0.0002|0|0|0.001|0|0||||||||||6.571e-06|0|0|0|0|0.0001925|0|0|0|0|0|0.001|EAS|||||||||||||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||5/13|ENST00000616016.5:c.968-390G>A|||||||rs553044462||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.0002|0|0|0.001|0|0||||||||||6.571e-06|0|0|0|0|0.0001925|0|0|0|0|0|0.001|EAS|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||4/10|ENST00000616125.5:c.431-390G>A|||||||rs553044462||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.0002|0|0|0.001|0|0||||||||||6.571e-06|0|0|0|0|0.0001925|0|0|0|0|0|0.001|EAS|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||4/12|ENST00000617307.5:c.431-390G>A|||||||rs553044462||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.0002|0|0|0.001|0|0||||||||||6.571e-06|0|0|0|0|0.0001925|0|0|0|0|0|0.001|EAS|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||3/9|ENST00000618181.5:c.380-390G>A|||||||rs553044462||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.0002|0|0|0.001|0|0||||||||||6.571e-06|0|0|0|0|0.0001925|0|0|0|0|0|0.001|EAS|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||5/13|ENST00000618323.5:c.968-390G>A|||||||rs553044462||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.0002|0|0|0.001|0|0||||||||||6.571e-06|0|0|0|0|0.0001925|0|0|0|0|0|0.001|EAS|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||4/11|ENST00000618779.5:c.431-390G>A|||||||rs553044462||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.0002|0|0|0.001|0|0||||||||||6.571e-06|0|0|0|0|0.0001925|0|0|0|0|0|0.001|EAS|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||4/12|ENST00000622503.5:c.431-390G>A|||||||rs553044462||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.0002|0|0|0.001|0|0||||||||||6.571e-06|0|0|0|0|0.0001925|0|0|0|0|0|0.001|EAS|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344437|CTCF_binding_site||||||||||rs553044462||||SNV||||||||||||||||||||0.0002|0|0|0.001|0|0||||||||||6.571e-06|0|0|0|0|0.0001925|0|0|0|0|0|0.001|EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 939038 . A C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=19;POPAF=7.3;TLOD=7.15;SRC=snv;GRP=s001;CSQ=C|splice_acceptor_variant|HIGH|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||3/11|ENST00000341065.8:c.202-2A>C|||||||||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||||||||||||||||||||||||||||||||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|splice_acceptor_variant|HIGH|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||5/13|ENST00000342066.8:c.431-2A>C|||||||||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding|||||||||||3245|1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,C|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000455979|protein_coding|||||||||||237|1|cds_start_NF|SNV|HGNC|HGNC:28706||||2|||ENSP00000412228||H7C3J6.55|UPI000155D479||1||||||||||||||||||||||||||||||||||||||||||||XALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVRRWGVRSGSPDHSWAESSGWVCDSPHQAISLQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000464948|retained_intron|||||||||||3128|1||SNV|HGNC|HGNC:28706||||2||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000466827|retained_intron|||||||||||3065|1||SNV|HGNC|HGNC:28706||||3||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000474461|retained_intron|||||||||||2038|1||SNV|HGNC|HGNC:28706||||5||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000478729|protein_coding_CDS_not_defined|||||||||||1308|1||SNV|HGNC|HGNC:28706||||5||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|splice_acceptor_variant|HIGH|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||5/13|ENST00000616016.5:c.968-2A>C|||||||||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||||||||||||||||||||||||||||||||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|splice_acceptor_variant|HIGH|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||4/10|ENST00000616125.5:c.431-2A>C|||||||||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|splice_acceptor_variant|HIGH|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||4/12|ENST00000617307.5:c.431-2A>C|||||||||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|splice_acceptor_variant|HIGH|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||3/9|ENST00000618181.5:c.380-2A>C|||||||||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|splice_acceptor_variant|HIGH|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||5/13|ENST00000618323.5:c.968-2A>C|||||||||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||||||||||||||||||||||||||||||||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|splice_acceptor_variant|HIGH|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||4/11|ENST00000618779.5:c.431-2A>C|||||||||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|splice_acceptor_variant|HIGH|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||4/12|ENST00000622503.5:c.431-2A>C|||||||||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344437|CTCF_binding_site||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 939864 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C2|1%2C1;DP=6;ECNT=1;GERMQ=39;MBQ=35,31;MFRL=0,0;MMQ=60,60;MPOS=49;POPAF=7.3;TLOD=5.97;SRC=snv;GRP=s001;CSQ=A|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding|||||||||||4339|-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||||||||||||||||||||||||||||||||||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||5/11|ENST00000341065.8:c.429+452G>A|||||||||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||||||||||||||||||||||||||||||||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||7/13|ENST00000342066.8:c.706+404G>A|||||||||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000437963|protein_coding|||||||||||4071|1|cds_end_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000393181||Q5SV95.100|UPI000155D47B||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPT||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000455979|protein_coding||1/6|ENST00000455979.1:c.186+404G>A|||||||||1|cds_start_NF|SNV|HGNC|HGNC:28706||||2|||ENSP00000412228||H7C3J6.55|UPI000155D479||1||||||||||||||||||||||||||||||||||||||||||||XALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVRRWGVRSGSPDHSWAESSGWVCDSPHQAISLQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000464948|retained_intron|||||||||||2302|1||SNV|HGNC|HGNC:28706||||2||||||||1||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000466827|retained_intron|||||||||||2239|1||SNV|HGNC|HGNC:28706||||3||||||||1||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000474461|retained_intron|||||||||||1212|1||SNV|HGNC|HGNC:28706||||5||||||||1||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron|||||||||||4341|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000478729|protein_coding_CDS_not_defined|||||||||||482|1||SNV|HGNC|HGNC:28706||||5||||||||1||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000483767|retained_intron|||||||||||4340|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||7/13|ENST00000616016.5:c.1195+452G>A|||||||||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||||||||||||||||||||||||||||||||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||6/10|ENST00000616125.5:c.661+452G>A|||||||||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||6/12|ENST00000617307.5:c.709+404G>A|||||||||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||5/9|ENST00000618181.5:c.610+452G>A|||||||||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||7/13|ENST00000618323.5:c.1198+452G>A|||||||||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||||||||||||||||||||||||||||||||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||5/11|ENST00000618779.5:c.520+735G>A|||||||||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||6/12|ENST00000622503.5:c.709+404G>A|||||||||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,2:0.4:6:0,0:2,1:2,1:2,2,1,1 -chr1 941119 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=21;POPAF=7.3;TLOD=7.31;SRC=snv;GRP=s001;CSQ=G|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||||||||||rs4372192|3084|-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||0.9131|0.8737|0.9207|0.9206|0.9503|0.9151|0.9335|0.8725|0.9513|0.9329|0.9095|0.9605|0.939|0.9342|0.9173|0.927|0.8847|0.9638|0.9299|0.9277|0.9248|0.9666|0.9304|0.9461|0.925|0.9204|0.9666|gnomADg_FIN|||||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||5/11|ENST00000341065.8:c.430-25A>G|||||||rs4372192||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.9131|0.8737|0.9207|0.9206|0.9503|0.9151|0.9335|0.8725|0.9513|0.9329|0.9095|0.9605|0.939|0.9342|0.9173|0.927|0.8847|0.9638|0.9299|0.9277|0.9248|0.9666|0.9304|0.9461|0.925|0.9204|0.9666|gnomADg_FIN|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||7/13|ENST00000342066.8:c.707-25A>G|||||||rs4372192||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.9131|0.8737|0.9207|0.9206|0.9503|0.9151|0.9335|0.8725|0.9513|0.9329|0.9095|0.9605|0.939|0.9342|0.9173|0.927|0.8847|0.9638|0.9299|0.9277|0.9248|0.9666|0.9304|0.9461|0.925|0.9204|0.9666|gnomADg_FIN|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000455979|protein_coding||1/6|ENST00000455979.1:c.187-25A>G|||||||rs4372192||1|cds_start_NF|SNV|HGNC|HGNC:28706||||2|||ENSP00000412228||H7C3J6.55|UPI000155D479||1||||||0.9131|0.8737|0.9207|0.9206|0.9503|0.9151|0.9335|0.8725|0.9513|0.9329|0.9095|0.9605|0.939|0.9342|0.9173|0.927|0.8847|0.9638|0.9299|0.9277|0.9248|0.9666|0.9304|0.9461|0.925|0.9204|0.9666|gnomADg_FIN|||||||||||XALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVRRWGVRSGSPDHSWAESSGWVCDSPHQAISLQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000464948|retained_intron||||||||||rs4372192|1047|1||SNV|HGNC|HGNC:28706||||2||||||||1||||||0.9131|0.8737|0.9207|0.9206|0.9503|0.9151|0.9335|0.8725|0.9513|0.9329|0.9095|0.9605|0.939|0.9342|0.9173|0.927|0.8847|0.9638|0.9299|0.9277|0.9248|0.9666|0.9304|0.9461|0.925|0.9204|0.9666|gnomADg_FIN|||||||||||||,G|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000466827|retained_intron||||||||||rs4372192|984|1||SNV|HGNC|HGNC:28706||||3||||||||1||||||0.9131|0.8737|0.9207|0.9206|0.9503|0.9151|0.9335|0.8725|0.9513|0.9329|0.9095|0.9605|0.939|0.9342|0.9173|0.927|0.8847|0.9638|0.9299|0.9277|0.9248|0.9666|0.9304|0.9461|0.925|0.9204|0.9666|gnomADg_FIN|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000474461|retained_intron|1/4||ENST00000474461.1:n.44A>G||44|||||rs4372192||1||SNV|HGNC|HGNC:28706||||5||||||||1||||||0.9131|0.8737|0.9207|0.9206|0.9503|0.9151|0.9335|0.8725|0.9513|0.9329|0.9095|0.9605|0.939|0.9342|0.9173|0.927|0.8847|0.9638|0.9299|0.9277|0.9248|0.9666|0.9304|0.9461|0.925|0.9204|0.9666|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron||||||||||rs4372192|3086|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.9131|0.8737|0.9207|0.9206|0.9503|0.9151|0.9335|0.8725|0.9513|0.9329|0.9095|0.9605|0.939|0.9342|0.9173|0.927|0.8847|0.9638|0.9299|0.9277|0.9248|0.9666|0.9304|0.9461|0.925|0.9204|0.9666|gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000478729|protein_coding_CDS_not_defined||1/2|ENST00000478729.1:n.118-25A>G|||||||rs4372192||1||SNV|HGNC|HGNC:28706||||5||||||||1||||||0.9131|0.8737|0.9207|0.9206|0.9503|0.9151|0.9335|0.8725|0.9513|0.9329|0.9095|0.9605|0.939|0.9342|0.9173|0.927|0.8847|0.9638|0.9299|0.9277|0.9248|0.9666|0.9304|0.9461|0.925|0.9204|0.9666|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000483767|retained_intron||||||||||rs4372192|3085|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||0.9131|0.8737|0.9207|0.9206|0.9503|0.9151|0.9335|0.8725|0.9513|0.9329|0.9095|0.9605|0.939|0.9342|0.9173|0.927|0.8847|0.9638|0.9299|0.9277|0.9248|0.9666|0.9304|0.9461|0.925|0.9204|0.9666|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000496938|protein_coding_CDS_not_defined||||||||||rs4372192|4200|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.9131|0.8737|0.9207|0.9206|0.9503|0.9151|0.9335|0.8725|0.9513|0.9329|0.9095|0.9605|0.939|0.9342|0.9173|0.927|0.8847|0.9638|0.9299|0.9277|0.9248|0.9666|0.9304|0.9461|0.925|0.9204|0.9666|gnomADg_FIN|||||||||||||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||7/13|ENST00000616016.5:c.1196-25A>G|||||||rs4372192||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.9131|0.8737|0.9207|0.9206|0.9503|0.9151|0.9335|0.8725|0.9513|0.9329|0.9095|0.9605|0.939|0.9342|0.9173|0.927|0.8847|0.9638|0.9299|0.9277|0.9248|0.9666|0.9304|0.9461|0.925|0.9204|0.9666|gnomADg_FIN|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||6/10|ENST00000616125.5:c.662-1291A>G|||||||rs4372192||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.9131|0.8737|0.9207|0.9206|0.9503|0.9151|0.9335|0.8725|0.9513|0.9329|0.9095|0.9605|0.939|0.9342|0.9173|0.927|0.8847|0.9638|0.9299|0.9277|0.9248|0.9666|0.9304|0.9461|0.925|0.9204|0.9666|gnomADg_FIN|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||6/12|ENST00000617307.5:c.710-25A>G|||||||rs4372192||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.9131|0.8737|0.9207|0.9206|0.9503|0.9151|0.9335|0.8725|0.9513|0.9329|0.9095|0.9605|0.939|0.9342|0.9173|0.927|0.8847|0.9638|0.9299|0.9277|0.9248|0.9666|0.9304|0.9461|0.925|0.9204|0.9666|gnomADg_FIN|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||5/9|ENST00000618181.5:c.611-1291A>G|||||||rs4372192||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.9131|0.8737|0.9207|0.9206|0.9503|0.9151|0.9335|0.8725|0.9513|0.9329|0.9095|0.9605|0.939|0.9342|0.9173|0.927|0.8847|0.9638|0.9299|0.9277|0.9248|0.9666|0.9304|0.9461|0.925|0.9204|0.9666|gnomADg_FIN|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||7/13|ENST00000618323.5:c.1199-25A>G|||||||rs4372192||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.9131|0.8737|0.9207|0.9206|0.9503|0.9151|0.9335|0.8725|0.9513|0.9329|0.9095|0.9605|0.939|0.9342|0.9173|0.927|0.8847|0.9638|0.9299|0.9277|0.9248|0.9666|0.9304|0.9461|0.925|0.9204|0.9666|gnomADg_FIN|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||5/11|ENST00000618779.5:c.521-25A>G|||||||rs4372192||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.9131|0.8737|0.9207|0.9206|0.9503|0.9151|0.9335|0.8725|0.9513|0.9329|0.9095|0.9605|0.939|0.9342|0.9173|0.927|0.8847|0.9638|0.9299|0.9277|0.9248|0.9666|0.9304|0.9461|0.925|0.9204|0.9666|gnomADg_FIN|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||6/12|ENST00000622503.5:c.710-25A>G|||||||rs4372192||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.9131|0.8737|0.9207|0.9206|0.9503|0.9151|0.9335|0.8725|0.9513|0.9329|0.9095|0.9605|0.939|0.9342|0.9173|0.927|0.8847|0.9638|0.9299|0.9277|0.9248|0.9666|0.9304|0.9461|0.925|0.9204|0.9666|gnomADg_FIN|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164803|promoter||||||||||rs4372192||||SNV||||||||||||||||||||0.9131|0.8737|0.9207|0.9206|0.9503|0.9151|0.9335|0.8725|0.9513|0.9329|0.9095|0.9605|0.939|0.9342|0.9173|0.927|0.8847|0.9638|0.9299|0.9277|0.9248|0.9666|0.9304|0.9461|0.925|0.9204|0.9666|gnomADg_FIN||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 941767 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4%2C4|2%2C2;DP=12;ECNT=1;GERMQ=39;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=77;POPAF=7.3;TLOD=12.66;SRC=snv;GRP=s001;CSQ=A|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||||||||||rs114982608|2436|-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||0.1715|0.0378|0.255|0.0833|0.2555|0.2975||||||||||0.1926|0.05858|0.3396|0.2395|0.3225|0.07722|0.2716|0.25|0.2449|0.2036|0.2783|0.3396|gnomADg_AMI|||||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||6/11|ENST00000341065.8:c.593-369G>A|||||||rs114982608||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.1715|0.0378|0.255|0.0833|0.2555|0.2975||||||||||0.1926|0.05858|0.3396|0.2395|0.3225|0.07722|0.2716|0.25|0.2449|0.2036|0.2783|0.3396|gnomADg_AMI|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||8/13|ENST00000342066.8:c.870-369G>A|||||||rs114982608||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.1715|0.0378|0.255|0.0833|0.2555|0.2975||||||||||0.1926|0.05858|0.3396|0.2395|0.3225|0.07722|0.2716|0.25|0.2449|0.2036|0.2783|0.3396|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000455979|protein_coding||2/6|ENST00000455979.1:c.350-369G>A|||||||rs114982608||1|cds_start_NF|SNV|HGNC|HGNC:28706||||2|||ENSP00000412228||H7C3J6.55|UPI000155D479||1||||||0.1715|0.0378|0.255|0.0833|0.2555|0.2975||||||||||0.1926|0.05858|0.3396|0.2395|0.3225|0.07722|0.2716|0.25|0.2449|0.2036|0.2783|0.3396|gnomADg_AMI|||||||||||XALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVRRWGVRSGSPDHSWAESSGWVCDSPHQAISLQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000464948|retained_intron||||||||||rs114982608|399|1||SNV|HGNC|HGNC:28706||||2||||||||1||||||0.1715|0.0378|0.255|0.0833|0.2555|0.2975||||||||||0.1926|0.05858|0.3396|0.2395|0.3225|0.07722|0.2716|0.25|0.2449|0.2036|0.2783|0.3396|gnomADg_AMI|||||||||||||,A|upstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000466827|retained_intron||||||||||rs114982608|336|1||SNV|HGNC|HGNC:28706||||3||||||||1||||||0.1715|0.0378|0.255|0.0833|0.2555|0.2975||||||||||0.1926|0.05858|0.3396|0.2395|0.3225|0.07722|0.2716|0.25|0.2449|0.2036|0.2783|0.3396|gnomADg_AMI|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000474461|retained_intron||1/3|ENST00000474461.1:n.232-369G>A|||||||rs114982608||1||SNV|HGNC|HGNC:28706||||5||||||||1||||||0.1715|0.0378|0.255|0.0833|0.2555|0.2975||||||||||0.1926|0.05858|0.3396|0.2395|0.3225|0.07722|0.2716|0.25|0.2449|0.2036|0.2783|0.3396|gnomADg_AMI|||||||||||||,A|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron||||||||||rs114982608|2438|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.1715|0.0378|0.255|0.0833|0.2555|0.2975||||||||||0.1926|0.05858|0.3396|0.2395|0.3225|0.07722|0.2716|0.25|0.2449|0.2036|0.2783|0.3396|gnomADg_AMI|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000478729|protein_coding_CDS_not_defined||2/2|ENST00000478729.1:n.281-369G>A|||||||rs114982608||1||SNV|HGNC|HGNC:28706||||5||||||||1||||||0.1715|0.0378|0.255|0.0833|0.2555|0.2975||||||||||0.1926|0.05858|0.3396|0.2395|0.3225|0.07722|0.2716|0.25|0.2449|0.2036|0.2783|0.3396|gnomADg_AMI|||||||||||||,A|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000483767|retained_intron||||||||||rs114982608|2437|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||0.1715|0.0378|0.255|0.0833|0.2555|0.2975||||||||||0.1926|0.05858|0.3396|0.2395|0.3225|0.07722|0.2716|0.25|0.2449|0.2036|0.2783|0.3396|gnomADg_AMI|||||||||||||,A|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000496938|protein_coding_CDS_not_defined||||||||||rs114982608|3552|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.1715|0.0378|0.255|0.0833|0.2555|0.2975||||||||||0.1926|0.05858|0.3396|0.2395|0.3225|0.07722|0.2716|0.25|0.2449|0.2036|0.2783|0.3396|gnomADg_AMI|||||||||||||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||8/13|ENST00000616016.5:c.1359-369G>A|||||||rs114982608||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.1715|0.0378|0.255|0.0833|0.2555|0.2975||||||||||0.1926|0.05858|0.3396|0.2395|0.3225|0.07722|0.2716|0.25|0.2449|0.2036|0.2783|0.3396|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||6/10|ENST00000616125.5:c.662-643G>A|||||||rs114982608||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.1715|0.0378|0.255|0.0833|0.2555|0.2975||||||||||0.1926|0.05858|0.3396|0.2395|0.3225|0.07722|0.2716|0.25|0.2449|0.2036|0.2783|0.3396|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||7/12|ENST00000617307.5:c.873-369G>A|||||||rs114982608||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.1715|0.0378|0.255|0.0833|0.2555|0.2975||||||||||0.1926|0.05858|0.3396|0.2395|0.3225|0.07722|0.2716|0.25|0.2449|0.2036|0.2783|0.3396|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||5/9|ENST00000618181.5:c.611-643G>A|||||||rs114982608||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.1715|0.0378|0.255|0.0833|0.2555|0.2975||||||||||0.1926|0.05858|0.3396|0.2395|0.3225|0.07722|0.2716|0.25|0.2449|0.2036|0.2783|0.3396|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||8/13|ENST00000618323.5:c.1362-369G>A|||||||rs114982608||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.1715|0.0378|0.255|0.0833|0.2555|0.2975||||||||||0.1926|0.05858|0.3396|0.2395|0.3225|0.07722|0.2716|0.25|0.2449|0.2036|0.2783|0.3396|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||6/11|ENST00000618779.5:c.684-369G>A|||||||rs114982608||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.1715|0.0378|0.255|0.0833|0.2555|0.2975||||||||||0.1926|0.05858|0.3396|0.2395|0.3225|0.07722|0.2716|0.25|0.2449|0.2036|0.2783|0.3396|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||7/12|ENST00000622503.5:c.873-369G>A|||||||rs114982608||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.1715|0.0378|0.255|0.0833|0.2555|0.2975||||||||||0.1926|0.05858|0.3396|0.2395|0.3225|0.07722|0.2716|0.25|0.2449|0.2036|0.2783|0.3396|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164803|promoter||||||||||rs114982608||||SNV||||||||||||||||||||0.1715|0.0378|0.255|0.0833|0.2555|0.2975||||||||||0.1926|0.05858|0.3396|0.2395|0.3225|0.07722|0.2716|0.25|0.2449|0.2036|0.2783|0.3396|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:8,4:0.375:12:0,0:4,2:4,2:4,4,2,2 -chr1 942335 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=43;POPAF=7.3;TLOD=7.15;SRC=snv;GRP=s001;CSQ=G|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||||||||||rs6605066&COSV58986459|1868|-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||0.8880|0.7935|0.9092|0.9256|0.9443|0.9039||||||||||0.8921|0.7967|0.8813|0.913|0.9116|0.9261|0.9422|0.9114|0.933|0.902|0.9047|0.9443|EUR||0&1|0&1||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||7/11|ENST00000341065.8:c.709-75C>G|||||||rs6605066&COSV58986459||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.8880|0.7935|0.9092|0.9256|0.9443|0.9039||||||||||0.8921|0.7967|0.8813|0.913|0.9116|0.9261|0.9422|0.9114|0.933|0.902|0.9047|0.9443|EUR||0&1|0&1||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||9/13|ENST00000342066.8:c.986-75C>G|||||||rs6605066&COSV58986459||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.8880|0.7935|0.9092|0.9256|0.9443|0.9039||||||||||0.8921|0.7967|0.8813|0.913|0.9116|0.9261|0.9422|0.9114|0.933|0.902|0.9047|0.9443|EUR||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000455979|protein_coding||3/6|ENST00000455979.1:c.466-75C>G|||||||rs6605066&COSV58986459||1|cds_start_NF|SNV|HGNC|HGNC:28706||||2|||ENSP00000412228||H7C3J6.55|UPI000155D479||1||||||0.8880|0.7935|0.9092|0.9256|0.9443|0.9039||||||||||0.8921|0.7967|0.8813|0.913|0.9116|0.9261|0.9422|0.9114|0.933|0.902|0.9047|0.9443|EUR||0&1|0&1||||||||XALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVRRWGVRSGSPDHSWAESSGWVCDSPHQAISLQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|non_coding_transcript_exon_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000464948|retained_intron|1/2||ENST00000464948.1:n.170C>G||170|||||rs6605066&COSV58986459||1||SNV|HGNC|HGNC:28706||||2||||||||1||||||0.8880|0.7935|0.9092|0.9256|0.9443|0.9039||||||||||0.8921|0.7967|0.8813|0.913|0.9116|0.9261|0.9422|0.9114|0.933|0.902|0.9047|0.9443|EUR||0&1|0&1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000466827|retained_intron||1/1|ENST00000466827.1:n.150-75C>G|||||||rs6605066&COSV58986459||1||SNV|HGNC|HGNC:28706||||3||||||||1||||||0.8880|0.7935|0.9092|0.9256|0.9443|0.9039||||||||||0.8921|0.7967|0.8813|0.913|0.9116|0.9261|0.9422|0.9114|0.933|0.902|0.9047|0.9443|EUR||0&1|0&1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000474461|retained_intron||2/3|ENST00000474461.1:n.348-75C>G|||||||rs6605066&COSV58986459||1||SNV|HGNC|HGNC:28706||||5||||||||1||||||0.8880|0.7935|0.9092|0.9256|0.9443|0.9039||||||||||0.8921|0.7967|0.8813|0.913|0.9116|0.9261|0.9422|0.9114|0.933|0.902|0.9047|0.9443|EUR||0&1|0&1||||||||||,G|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron||||||||||rs6605066&COSV58986459|1870|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.8880|0.7935|0.9092|0.9256|0.9443|0.9039||||||||||0.8921|0.7967|0.8813|0.913|0.9116|0.9261|0.9422|0.9114|0.933|0.902|0.9047|0.9443|EUR||0&1|0&1||||||||||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000478729|protein_coding_CDS_not_defined||||||||||rs6605066&COSV58986459|162|1||SNV|HGNC|HGNC:28706||||5||||||||1||||||0.8880|0.7935|0.9092|0.9256|0.9443|0.9039||||||||||0.8921|0.7967|0.8813|0.913|0.9116|0.9261|0.9422|0.9114|0.933|0.902|0.9047|0.9443|EUR||0&1|0&1||||||||||,G|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000483767|retained_intron||||||||||rs6605066&COSV58986459|1869|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||0.8880|0.7935|0.9092|0.9256|0.9443|0.9039||||||||||0.8921|0.7967|0.8813|0.913|0.9116|0.9261|0.9422|0.9114|0.933|0.902|0.9047|0.9443|EUR||0&1|0&1||||||||||,G|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000496938|protein_coding_CDS_not_defined||||||||||rs6605066&COSV58986459|2984|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.8880|0.7935|0.9092|0.9256|0.9443|0.9039||||||||||0.8921|0.7967|0.8813|0.913|0.9116|0.9261|0.9422|0.9114|0.933|0.902|0.9047|0.9443|EUR||0&1|0&1||||||||||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||9/13|ENST00000616016.5:c.1475-75C>G|||||||rs6605066&COSV58986459||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.8880|0.7935|0.9092|0.9256|0.9443|0.9039||||||||||0.8921|0.7967|0.8813|0.913|0.9116|0.9261|0.9422|0.9114|0.933|0.902|0.9047|0.9443|EUR||0&1|0&1||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||6/10|ENST00000616125.5:c.662-75C>G|||||||rs6605066&COSV58986459||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.8880|0.7935|0.9092|0.9256|0.9443|0.9039||||||||||0.8921|0.7967|0.8813|0.913|0.9116|0.9261|0.9422|0.9114|0.933|0.902|0.9047|0.9443|EUR||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||8/12|ENST00000617307.5:c.989-75C>G|||||||rs6605066&COSV58986459||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.8880|0.7935|0.9092|0.9256|0.9443|0.9039||||||||||0.8921|0.7967|0.8813|0.913|0.9116|0.9261|0.9422|0.9114|0.933|0.902|0.9047|0.9443|EUR||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||5/9|ENST00000618181.5:c.611-75C>G|||||||rs6605066&COSV58986459||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.8880|0.7935|0.9092|0.9256|0.9443|0.9039||||||||||0.8921|0.7967|0.8813|0.913|0.9116|0.9261|0.9422|0.9114|0.933|0.902|0.9047|0.9443|EUR||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||9/13|ENST00000618323.5:c.1478-75C>G|||||||rs6605066&COSV58986459||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.8880|0.7935|0.9092|0.9256|0.9443|0.9039||||||||||0.8921|0.7967|0.8813|0.913|0.9116|0.9261|0.9422|0.9114|0.933|0.902|0.9047|0.9443|EUR||0&1|0&1||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||7/11|ENST00000618779.5:c.800-75C>G|||||||rs6605066&COSV58986459||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.8880|0.7935|0.9092|0.9256|0.9443|0.9039||||||||||0.8921|0.7967|0.8813|0.913|0.9116|0.9261|0.9422|0.9114|0.933|0.902|0.9047|0.9443|EUR||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||8/12|ENST00000622503.5:c.989-75C>G|||||||rs6605066&COSV58986459||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.8880|0.7935|0.9092|0.9256|0.9443|0.9039||||||||||0.8921|0.7967|0.8813|0.913|0.9116|0.9261|0.9422|0.9114|0.933|0.902|0.9047|0.9443|EUR||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164803|promoter||||||||||rs6605066&COSV58986459||||SNV||||||||||||||||||||0.8880|0.7935|0.9092|0.9256|0.9443|0.9039||||||||||0.8921|0.7967|0.8813|0.913|0.9116|0.9261|0.9422|0.9114|0.933|0.902|0.9047|0.9443|EUR||0&1|0&1|||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 942451 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C1;DP=5;ECNT=1;GERMQ=55;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=45;POPAF=7.3;TLOD=18.09;SRC=snv;GRP=s001;CSQ=C|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||||||||||rs6672356&COSV58985794|1752|-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||1.0000|1|1|1|1|1|0.9999|0.9994|0.9999|1|1|1|0.9999|1|0.9997|0.9998|0.9996|1|1|1|1|1|1|0.9999|1|0.9996|1|AFR&AMR&EAS&EUR&SAS&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_OTH&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_OTH|benign|0&1|1&1||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,C|missense_variant|MODERATE|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding|8/12||ENST00000341065.8:c.751T>C|ENSP00000349216.4:p.Trp251Arg|750|751|251|W/R|Tgg/Cgg|rs6672356&COSV58985794||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1|tolerated(1)|benign(0)||||1.0000|1|1|1|1|1|0.9999|0.9994|0.9999|1|1|1|0.9999|1|0.9997|0.9998|0.9996|1|1|1|1|1|1|0.9999|1|0.9996|1|AFR&AMR&EAS&EUR&SAS&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_OTH&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_OTH|benign|0&1|1&1||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|missense_variant|MODERATE|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding|10/14||ENST00000342066.8:c.1027T>C|ENSP00000342313.3:p.Trp343Arg|1117|1027|343|W/R|Tgg/Cgg|rs6672356&COSV58985794||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1|tolerated(1)|benign(0)||||1.0000|1|1|1|1|1|0.9999|0.9994|0.9999|1|1|1|0.9999|1|0.9997|0.9998|0.9996|1|1|1|1|1|1|0.9999|1|0.9996|1|AFR&AMR&EAS&EUR&SAS&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_OTH&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_OTH|benign|0&1|1&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|missense_variant|MODERATE|SAMD11|ENSG00000187634|Transcript|ENST00000455979|protein_coding|4/7||ENST00000455979.1:c.508T>C|ENSP00000412228.1:p.Trp170Arg|507|508|170|W/R|Tgg/Cgg|rs6672356&COSV58985794||1|cds_start_NF|SNV|HGNC|HGNC:28706||||2|||ENSP00000412228||H7C3J6.55|UPI000155D479||1|tolerated(1)|benign(0)||||1.0000|1|1|1|1|1|0.9999|0.9994|0.9999|1|1|1|0.9999|1|0.9997|0.9998|0.9996|1|1|1|1|1|1|0.9999|1|0.9996|1|AFR&AMR&EAS&EUR&SAS&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_OTH&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_OTH|benign|0&1|1&1||||||||XALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVRRWGVRSGSPDHSWAESSGWVCDSPHQAISLQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|non_coding_transcript_exon_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000464948|retained_intron|1/2||ENST00000464948.1:n.286T>C||286|||||rs6672356&COSV58985794||1||SNV|HGNC|HGNC:28706||||2||||||||1||||||1.0000|1|1|1|1|1|0.9999|0.9994|0.9999|1|1|1|0.9999|1|0.9997|0.9998|0.9996|1|1|1|1|1|1|0.9999|1|0.9996|1|AFR&AMR&EAS&EUR&SAS&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_OTH&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_OTH|benign|0&1|1&1||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000466827|retained_intron|2/2||ENST00000466827.1:n.191T>C||191|||||rs6672356&COSV58985794||1||SNV|HGNC|HGNC:28706||||3||||||||1||||||1.0000|1|1|1|1|1|0.9999|0.9994|0.9999|1|1|1|0.9999|1|0.9997|0.9998|0.9996|1|1|1|1|1|1|0.9999|1|0.9996|1|AFR&AMR&EAS&EUR&SAS&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_OTH&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_OTH|benign|0&1|1&1||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000474461|retained_intron|3/4||ENST00000474461.1:n.389T>C||389|||||rs6672356&COSV58985794||1||SNV|HGNC|HGNC:28706||||5||||||||1||||||1.0000|1|1|1|1|1|0.9999|0.9994|0.9999|1|1|1|0.9999|1|0.9997|0.9998|0.9996|1|1|1|1|1|1|0.9999|1|0.9996|1|AFR&AMR&EAS&EUR&SAS&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_OTH&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_OTH|benign|0&1|1&1||||||||||,C|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron||||||||||rs6672356&COSV58985794|1754|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||1.0000|1|1|1|1|1|0.9999|0.9994|0.9999|1|1|1|0.9999|1|0.9997|0.9998|0.9996|1|1|1|1|1|1|0.9999|1|0.9996|1|AFR&AMR&EAS&EUR&SAS&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_OTH&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_OTH|benign|0&1|1&1||||||||||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000478729|protein_coding_CDS_not_defined||||||||||rs6672356&COSV58985794|278|1||SNV|HGNC|HGNC:28706||||5||||||||1||||||1.0000|1|1|1|1|1|0.9999|0.9994|0.9999|1|1|1|0.9999|1|0.9997|0.9998|0.9996|1|1|1|1|1|1|0.9999|1|0.9996|1|AFR&AMR&EAS&EUR&SAS&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_OTH&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_OTH|benign|0&1|1&1||||||||||,C|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000483767|retained_intron||||||||||rs6672356&COSV58985794|1753|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||1.0000|1|1|1|1|1|0.9999|0.9994|0.9999|1|1|1|0.9999|1|0.9997|0.9998|0.9996|1|1|1|1|1|1|0.9999|1|0.9996|1|AFR&AMR&EAS&EUR&SAS&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_OTH&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_OTH|benign|0&1|1&1||||||||||,C|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000496938|protein_coding_CDS_not_defined||||||||||rs6672356&COSV58985794|2868|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||1.0000|1|1|1|1|1|0.9999|0.9994|0.9999|1|1|1|0.9999|1|0.9997|0.9998|0.9996|1|1|1|1|1|1|0.9999|1|0.9996|1|AFR&AMR&EAS&EUR&SAS&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_OTH&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_OTH|benign|0&1|1&1||||||||||,C|missense_variant|MODERATE|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding|10/14||ENST00000616016.5:c.1516T>C|ENSP00000478421.2:p.Trp506Arg|2025|1516|506|W/R|Tgg/Cgg|rs6672356&COSV58985794||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1|tolerated_low_confidence(1)|benign(0)||||1.0000|1|1|1|1|1|0.9999|0.9994|0.9999|1|1|1|0.9999|1|0.9997|0.9998|0.9996|1|1|1|1|1|1|0.9999|1|0.9996|1|AFR&AMR&EAS&EUR&SAS&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_OTH&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_OTH|benign|0&1|1&1||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|missense_variant|MODERATE|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding|7/11||ENST00000616125.5:c.703T>C|ENSP00000484643.1:p.Trp235Arg|703|703|235|W/R|Tgg/Cgg|rs6672356&COSV58985794||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1|tolerated(1)|benign(0.001)||||1.0000|1|1|1|1|1|0.9999|0.9994|0.9999|1|1|1|0.9999|1|0.9997|0.9998|0.9996|1|1|1|1|1|1|0.9999|1|0.9996|1|AFR&AMR&EAS&EUR&SAS&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_OTH&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_OTH|benign|0&1|1&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|missense_variant|MODERATE|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding|9/13||ENST00000617307.5:c.1030T>C|ENSP00000482090.2:p.Trp344Arg|1030|1030|344|W/R|Tgg/Cgg|rs6672356&COSV58985794||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1|tolerated(1)|benign(0)||||1.0000|1|1|1|1|1|0.9999|0.9994|0.9999|1|1|1|0.9999|1|0.9997|0.9998|0.9996|1|1|1|1|1|1|0.9999|1|0.9996|1|AFR&AMR&EAS&EUR&SAS&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_OTH&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_OTH|benign|0&1|1&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|missense_variant|MODERATE|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding|6/10||ENST00000618181.5:c.652T>C|ENSP00000480870.1:p.Trp218Arg|652|652|218|W/R|Tgg/Cgg|rs6672356&COSV58985794||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1|tolerated(1)|benign(0)||||1.0000|1|1|1|1|1|0.9999|0.9994|0.9999|1|1|1|0.9999|1|0.9997|0.9998|0.9996|1|1|1|1|1|1|0.9999|1|0.9996|1|AFR&AMR&EAS&EUR&SAS&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_OTH&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_OTH|benign|0&1|1&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|missense_variant|MODERATE|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding|10/14||ENST00000618323.5:c.1519T>C|ENSP00000480678.2:p.Trp507Arg|2028|1519|507|W/R|Tgg/Cgg|rs6672356&COSV58985794||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1|tolerated_low_confidence(1)|benign(0)||||1.0000|1|1|1|1|1|0.9999|0.9994|0.9999|1|1|1|0.9999|1|0.9997|0.9998|0.9996|1|1|1|1|1|1|0.9999|1|0.9996|1|AFR&AMR&EAS&EUR&SAS&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_OTH&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_OTH|benign|0&1|1&1||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|missense_variant|MODERATE|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding|8/12||ENST00000618779.5:c.841T>C|ENSP00000484256.1:p.Trp281Arg|841|841|281|W/R|Tgg/Cgg|rs6672356&COSV58985794||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1|tolerated(1)|benign(0)||||1.0000|1|1|1|1|1|0.9999|0.9994|0.9999|1|1|1|0.9999|1|0.9997|0.9998|0.9996|1|1|1|1|1|1|0.9999|1|0.9996|1|AFR&AMR&EAS&EUR&SAS&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_OTH&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_OTH|benign|0&1|1&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|missense_variant|MODERATE|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding|9/13||ENST00000622503.5:c.1030T>C|ENSP00000482138.1:p.Trp344Arg|1030|1030|344|W/R|Tgg/Cgg|rs6672356&COSV58985794||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1|tolerated(1)|benign(0)||||1.0000|1|1|1|1|1|0.9999|0.9994|0.9999|1|1|1|0.9999|1|0.9997|0.9998|0.9996|1|1|1|1|1|1|0.9999|1|0.9996|1|AFR&AMR&EAS&EUR&SAS&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_OTH&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_OTH|benign|0&1|1&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164803|promoter||||||||||rs6672356&COSV58985794||||SNV||||||||||||||||||||1.0000|1|1|1|1|1|0.9999|0.9994|0.9999|1|1|1|0.9999|1|0.9997|0.9998|0.9996|1|1|1|1|1|1|0.9999|1|0.9996|1|AFR&AMR&EAS&EUR&SAS&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_OTH&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_OTH|benign|0&1|1&1|||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.833:5:0,0:0,4:0,4:0,0,4,1 -chr1 943946 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=25%2C21|1%2C1;DP=48;ECNT=1;GERMQ=93;MBQ=34,32;MFRL=0,0;MMQ=60,60;MPOS=117;POPAF=7.3;TLOD=4.44;SRC=snv;GRP=s001;CSQ=T|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||||||||||rs111371881|257|-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||0.0012|0.0045|0|0|0|0|0.0002238|0.003439|8.695e-05|0|0|0|0|0|0|0.000946|0.003402|0|0.0001308|0|0|0|0|0|0.0004776|0|0.0045|AFR|benign||1||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,T|synonymous_variant|LOW|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding|12/12||ENST00000341065.8:c.1563C>T|ENSP00000349216.4:p.Ser521%3D|1562|1563|521|S|agC/agT|rs111371881||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.0012|0.0045|0|0|0|0|0.0002238|0.003439|8.695e-05|0|0|0|0|0|0|0.000946|0.003402|0|0.0001308|0|0|0|0|0|0.0004776|0|0.0045|AFR|benign||1||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|synonymous_variant|LOW|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding|14/14||ENST00000342066.8:c.1839C>T|ENSP00000342313.3:p.Ser613%3D|1929|1839|613|S|agC/agT|rs111371881||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.0012|0.0045|0|0|0|0|0.0002238|0.003439|8.695e-05|0|0|0|0|0|0|0.000946|0.003402|0|0.0001308|0|0|0|0|0|0.0004776|0|0.0045|AFR|benign||1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|synonymous_variant|LOW|SAMD11|ENSG00000187634|Transcript|ENST00000455979|protein_coding|7/7||ENST00000455979.1:c.1419C>T|ENSP00000412228.1:p.Ser473%3D|1418|1419|473|S|agC/agT|rs111371881||1|cds_start_NF|SNV|HGNC|HGNC:28706||||2|||ENSP00000412228||H7C3J6.55|UPI000155D479||1||||||0.0012|0.0045|0|0|0|0|0.0002238|0.003439|8.695e-05|0|0|0|0|0|0|0.000946|0.003402|0|0.0001308|0|0|0|0|0|0.0004776|0|0.0045|AFR|benign||1||||||||XALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVRRWGVRSGSPDHSWAESSGWVCDSPHQAISLQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000464948|retained_intron||||||||||rs111371881|1054|1||SNV|HGNC|HGNC:28706||||2||||||||1||||||0.0012|0.0045|0|0|0|0|0.0002238|0.003439|8.695e-05|0|0|0|0|0|0|0.000946|0.003402|0|0.0001308|0|0|0|0|0|0.0004776|0|0.0045|AFR|benign||1||||||||||,T|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000466827|retained_intron||||||||||rs111371881|1144|1||SNV|HGNC|HGNC:28706||||3||||||||1||||||0.0012|0.0045|0|0|0|0|0.0002238|0.003439|8.695e-05|0|0|0|0|0|0|0.000946|0.003402|0|0.0001308|0|0|0|0|0|0.0004776|0|0.0045|AFR|benign||1||||||||||,T|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000474461|retained_intron||||||||||rs111371881|952|1||SNV|HGNC|HGNC:28706||||5||||||||1||||||0.0012|0.0045|0|0|0|0|0.0002238|0.003439|8.695e-05|0|0|0|0|0|0|0.000946|0.003402|0|0.0001308|0|0|0|0|0|0.0004776|0|0.0045|AFR|benign||1||||||||||,T|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron||||||||||rs111371881|259|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.0012|0.0045|0|0|0|0|0.0002238|0.003439|8.695e-05|0|0|0|0|0|0|0.000946|0.003402|0|0.0001308|0|0|0|0|0|0.0004776|0|0.0045|AFR|benign||1||||||||||,T|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000478729|protein_coding_CDS_not_defined||||||||||rs111371881|1773|1||SNV|HGNC|HGNC:28706||||5||||||||1||||||0.0012|0.0045|0|0|0|0|0.0002238|0.003439|8.695e-05|0|0|0|0|0|0|0.000946|0.003402|0|0.0001308|0|0|0|0|0|0.0004776|0|0.0045|AFR|benign||1||||||||||,T|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000483767|retained_intron||||||||||rs111371881|258|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||0.0012|0.0045|0|0|0|0|0.0002238|0.003439|8.695e-05|0|0|0|0|0|0|0.000946|0.003402|0|0.0001308|0|0|0|0|0|0.0004776|0|0.0045|AFR|benign||1||||||||||,T|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000496938|protein_coding_CDS_not_defined||||||||||rs111371881|1373|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.0012|0.0045|0|0|0|0|0.0002238|0.003439|8.695e-05|0|0|0|0|0|0|0.000946|0.003402|0|0.0001308|0|0|0|0|0|0.0004776|0|0.0045|AFR|benign||1||||||||||,T|synonymous_variant|LOW|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding|14/14||ENST00000616016.5:c.2328C>T|ENSP00000478421.2:p.Ser776%3D|2837|2328|776|S|agC/agT|rs111371881||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.0012|0.0045|0|0|0|0|0.0002238|0.003439|8.695e-05|0|0|0|0|0|0|0.000946|0.003402|0|0.0001308|0|0|0|0|0|0.0004776|0|0.0045|AFR|benign||1||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|synonymous_variant|LOW|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding|11/11||ENST00000616125.5:c.1515C>T|ENSP00000484643.1:p.Ser505%3D|1515|1515|505|S|agC/agT|rs111371881||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.0012|0.0045|0|0|0|0|0.0002238|0.003439|8.695e-05|0|0|0|0|0|0|0.000946|0.003402|0|0.0001308|0|0|0|0|0|0.0004776|0|0.0045|AFR|benign||1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|intron_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||12/12|ENST00000617307.5:c.1804-25C>T|||||||rs111371881||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.0012|0.0045|0|0|0|0|0.0002238|0.003439|8.695e-05|0|0|0|0|0|0|0.000946|0.003402|0|0.0001308|0|0|0|0|0|0.0004776|0|0.0045|AFR|benign||1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|synonymous_variant|LOW|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding|10/10||ENST00000618181.5:c.1464C>T|ENSP00000480870.1:p.Ser488%3D|1464|1464|488|S|agC/agT|rs111371881||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.0012|0.0045|0|0|0|0|0.0002238|0.003439|8.695e-05|0|0|0|0|0|0|0.000946|0.003402|0|0.0001308|0|0|0|0|0|0.0004776|0|0.0045|AFR|benign||1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|synonymous_variant|LOW|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding|14/14||ENST00000618323.5:c.2331C>T|ENSP00000480678.2:p.Ser777%3D|2840|2331|777|S|agC/agT|rs111371881||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.0012|0.0045|0|0|0|0|0.0002238|0.003439|8.695e-05|0|0|0|0|0|0|0.000946|0.003402|0|0.0001308|0|0|0|0|0|0.0004776|0|0.0045|AFR|benign||1||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|synonymous_variant|LOW|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding|12/12||ENST00000618779.5:c.1653C>T|ENSP00000484256.1:p.Ser551%3D|1653|1653|551|S|agC/agT|rs111371881||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.0012|0.0045|0|0|0|0|0.0002238|0.003439|8.695e-05|0|0|0|0|0|0|0.000946|0.003402|0|0.0001308|0|0|0|0|0|0.0004776|0|0.0045|AFR|benign||1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|synonymous_variant|LOW|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding|13/13||ENST00000622503.5:c.1842C>T|ENSP00000482138.1:p.Ser614%3D|1842|1842|614|S|agC/agT|rs111371881||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.0012|0.0045|0|0|0|0|0.0002238|0.003439|8.695e-05|0|0|0|0|0|0|0.000946|0.003402|0|0.0001308|0|0|0|0|0|0.0004776|0|0.0045|AFR|benign||1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164803|promoter||||||||||rs111371881||||SNV||||||||||||||||||||0.0012|0.0045|0|0|0|0|0.0002238|0.003439|8.695e-05|0|0|0|0|0|0|0.000946|0.003402|0|0.0001308|0|0|0|0|0|0.0004776|0|0.0045|AFR|benign||1|||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:46,2:0.067:48:2,0:25,1:27,1:25,21,1,1 -chr1 944296 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|55%2C48;DP=106;ECNT=3;GERMQ=93;MBQ=29,32;MFRL=0,0;MMQ=60,60;MPOS=89;POPAF=7.3;TLOD=367.81;SRC=snv;GRP=s001;CSQ=A|3_prime_UTR_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding|19/19||ENST00000327044.7:c.*398C>T||2664|||||rs6605067&COSV58988623||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||0.8860|0.7867|0.9006|0.9137|0.9473|0.9182||||||||||0.904|0.8089|0.9638|0.9161|0.9271|0.9196|0.9666|0.9272|0.9448|0.9077|0.9215|0.9666|gnomADg_FIN||0&1|0&1||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,A|3_prime_UTR_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding|12/12||ENST00000341065.8:c.*143G>A||1912|||||rs6605067&COSV58988623||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.8860|0.7867|0.9006|0.9137|0.9473|0.9182||||||||||0.904|0.8089|0.9638|0.9161|0.9271|0.9196|0.9666|0.9272|0.9448|0.9077|0.9215|0.9666|gnomADg_FIN||0&1|0&1||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|3_prime_UTR_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding|14/14||ENST00000342066.8:c.*143G>A||2279|||||rs6605067&COSV58988623||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.8860|0.7867|0.9006|0.9137|0.9473|0.9182||||||||||0.904|0.8089|0.9638|0.9161|0.9271|0.9196|0.9666|0.9272|0.9448|0.9077|0.9215|0.9666|gnomADg_FIN||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000455979|protein_coding||||||||||rs6605067&COSV58988623|37|1|cds_start_NF|SNV|HGNC|HGNC:28706||||2|||ENSP00000412228||H7C3J6.55|UPI000155D479||1||||||0.8860|0.7867|0.9006|0.9137|0.9473|0.9182||||||||||0.904|0.8089|0.9638|0.9161|0.9271|0.9196|0.9666|0.9272|0.9448|0.9077|0.9215|0.9666|gnomADg_FIN||0&1|0&1||||||||XALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVRRWGVRSGSPDHSWAESSGWVCDSPHQAISLQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000464948|retained_intron||||||||||rs6605067&COSV58988623|1404|1||SNV|HGNC|HGNC:28706||||2||||||||1||||||0.8860|0.7867|0.9006|0.9137|0.9473|0.9182||||||||||0.904|0.8089|0.9638|0.9161|0.9271|0.9196|0.9666|0.9272|0.9448|0.9077|0.9215|0.9666|gnomADg_FIN||0&1|0&1||||||||||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000466827|retained_intron||||||||||rs6605067&COSV58988623|1494|1||SNV|HGNC|HGNC:28706||||3||||||||1||||||0.8860|0.7867|0.9006|0.9137|0.9473|0.9182||||||||||0.904|0.8089|0.9638|0.9161|0.9271|0.9196|0.9666|0.9272|0.9448|0.9077|0.9215|0.9666|gnomADg_FIN||0&1|0&1||||||||||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000474461|retained_intron||||||||||rs6605067&COSV58988623|1302|1||SNV|HGNC|HGNC:28706||||5||||||||1||||||0.8860|0.7867|0.9006|0.9137|0.9473|0.9182||||||||||0.904|0.8089|0.9638|0.9161|0.9271|0.9196|0.9666|0.9272|0.9448|0.9077|0.9215|0.9666|gnomADg_FIN||0&1|0&1||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron|17/17||ENST00000477976.5:n.4110C>T||4110|||||rs6605067&COSV58988623||-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.8860|0.7867|0.9006|0.9137|0.9473|0.9182||||||||||0.904|0.8089|0.9638|0.9161|0.9271|0.9196|0.9666|0.9272|0.9448|0.9077|0.9215|0.9666|gnomADg_FIN||0&1|0&1||||||||||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000478729|protein_coding_CDS_not_defined||||||||||rs6605067&COSV58988623|2123|1||SNV|HGNC|HGNC:28706||||5||||||||1||||||0.8860|0.7867|0.9006|0.9137|0.9473|0.9182||||||||||0.904|0.8089|0.9638|0.9161|0.9271|0.9196|0.9666|0.9272|0.9448|0.9077|0.9215|0.9666|gnomADg_FIN||0&1|0&1||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000483767|retained_intron|5/5||ENST00000483767.5:n.1519C>T||1519|||||rs6605067&COSV58988623||-1||SNV|HGNC|HGNC:24517||||2||||||||||||||0.8860|0.7867|0.9006|0.9137|0.9473|0.9182||||||||||0.904|0.8089|0.9638|0.9161|0.9271|0.9196|0.9666|0.9272|0.9448|0.9077|0.9215|0.9666|gnomADg_FIN||0&1|0&1||||||||||,A|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000496938|protein_coding_CDS_not_defined||||||||||rs6605067&COSV58988623|1023|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.8860|0.7867|0.9006|0.9137|0.9473|0.9182||||||||||0.904|0.8089|0.9638|0.9161|0.9271|0.9196|0.9666|0.9272|0.9448|0.9077|0.9215|0.9666|gnomADg_FIN||0&1|0&1||||||||||,A|3_prime_UTR_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding|14/14||ENST00000616016.5:c.*143G>A||3187|||||rs6605067&COSV58988623||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.8860|0.7867|0.9006|0.9137|0.9473|0.9182||||||||||0.904|0.8089|0.9638|0.9161|0.9271|0.9196|0.9666|0.9272|0.9448|0.9077|0.9215|0.9666|gnomADg_FIN||0&1|0&1||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||||||||||rs6605067&COSV58988623|143|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.8860|0.7867|0.9006|0.9137|0.9473|0.9182||||||||||0.904|0.8089|0.9638|0.9161|0.9271|0.9196|0.9666|0.9272|0.9448|0.9077|0.9215|0.9666|gnomADg_FIN||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||||||||||rs6605067&COSV58988623|143|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.8860|0.7867|0.9006|0.9137|0.9473|0.9182||||||||||0.904|0.8089|0.9638|0.9161|0.9271|0.9196|0.9666|0.9272|0.9448|0.9077|0.9215|0.9666|gnomADg_FIN||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||||||||||rs6605067&COSV58988623|143|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.8860|0.7867|0.9006|0.9137|0.9473|0.9182||||||||||0.904|0.8089|0.9638|0.9161|0.9271|0.9196|0.9666|0.9272|0.9448|0.9077|0.9215|0.9666|gnomADg_FIN||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|3_prime_UTR_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding|14/14||ENST00000618323.5:c.*143G>A||3190|||||rs6605067&COSV58988623||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.8860|0.7867|0.9006|0.9137|0.9473|0.9182||||||||||0.904|0.8089|0.9638|0.9161|0.9271|0.9196|0.9666|0.9272|0.9448|0.9077|0.9215|0.9666|gnomADg_FIN||0&1|0&1||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||||||||||rs6605067&COSV58988623|143|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.8860|0.7867|0.9006|0.9137|0.9473|0.9182||||||||||0.904|0.8089|0.9638|0.9161|0.9271|0.9196|0.9666|0.9272|0.9448|0.9077|0.9215|0.9666|gnomADg_FIN||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||||||||||rs6605067&COSV58988623|143|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.8860|0.7867|0.9006|0.9137|0.9473|0.9182||||||||||0.904|0.8089|0.9638|0.9161|0.9271|0.9196|0.9666|0.9272|0.9448|0.9077|0.9215|0.9666|gnomADg_FIN||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,103:0.984:105:0,0:0,55:0,60:1,1,55,48 -chr1 944307 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|55%2C51;DP=107;ECNT=3;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=85;POPAF=7.3;TLOD=398.76;SRC=snv;GRP=s001;CSQ=C|3_prime_UTR_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding|19/19||ENST00000327044.7:c.*387A>G||2653|||||rs2839&COSV58988633||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||0.9211|0.9062|0.9193|0.9137|0.9523|0.9182||||||||||0.9341|0.9091|0.9638|0.9329|0.9274|0.9194|0.9666|0.9304|0.9465|0.9336|0.9219|0.9666|gnomADg_FIN||0&1|0&1||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,C|3_prime_UTR_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding|12/12||ENST00000341065.8:c.*154T>C||1923|||||rs2839&COSV58988633||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.9211|0.9062|0.9193|0.9137|0.9523|0.9182||||||||||0.9341|0.9091|0.9638|0.9329|0.9274|0.9194|0.9666|0.9304|0.9465|0.9336|0.9219|0.9666|gnomADg_FIN||0&1|0&1||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|3_prime_UTR_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding|14/14||ENST00000342066.8:c.*154T>C||2290|||||rs2839&COSV58988633||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.9211|0.9062|0.9193|0.9137|0.9523|0.9182||||||||||0.9341|0.9091|0.9638|0.9329|0.9274|0.9194|0.9666|0.9304|0.9465|0.9336|0.9219|0.9666|gnomADg_FIN||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000455979|protein_coding||||||||||rs2839&COSV58988633|48|1|cds_start_NF|SNV|HGNC|HGNC:28706||||2|||ENSP00000412228||H7C3J6.55|UPI000155D479||1||||||0.9211|0.9062|0.9193|0.9137|0.9523|0.9182||||||||||0.9341|0.9091|0.9638|0.9329|0.9274|0.9194|0.9666|0.9304|0.9465|0.9336|0.9219|0.9666|gnomADg_FIN||0&1|0&1||||||||XALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVRRWGVRSGSPDHSWAESSGWVCDSPHQAISLQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000464948|retained_intron||||||||||rs2839&COSV58988633|1415|1||SNV|HGNC|HGNC:28706||||2||||||||1||||||0.9211|0.9062|0.9193|0.9137|0.9523|0.9182||||||||||0.9341|0.9091|0.9638|0.9329|0.9274|0.9194|0.9666|0.9304|0.9465|0.9336|0.9219|0.9666|gnomADg_FIN||0&1|0&1||||||||||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000466827|retained_intron||||||||||rs2839&COSV58988633|1505|1||SNV|HGNC|HGNC:28706||||3||||||||1||||||0.9211|0.9062|0.9193|0.9137|0.9523|0.9182||||||||||0.9341|0.9091|0.9638|0.9329|0.9274|0.9194|0.9666|0.9304|0.9465|0.9336|0.9219|0.9666|gnomADg_FIN||0&1|0&1||||||||||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000474461|retained_intron||||||||||rs2839&COSV58988633|1313|1||SNV|HGNC|HGNC:28706||||5||||||||1||||||0.9211|0.9062|0.9193|0.9137|0.9523|0.9182||||||||||0.9341|0.9091|0.9638|0.9329|0.9274|0.9194|0.9666|0.9304|0.9465|0.9336|0.9219|0.9666|gnomADg_FIN||0&1|0&1||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron|17/17||ENST00000477976.5:n.4099A>G||4099|||||rs2839&COSV58988633||-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.9211|0.9062|0.9193|0.9137|0.9523|0.9182||||||||||0.9341|0.9091|0.9638|0.9329|0.9274|0.9194|0.9666|0.9304|0.9465|0.9336|0.9219|0.9666|gnomADg_FIN||0&1|0&1||||||||||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000478729|protein_coding_CDS_not_defined||||||||||rs2839&COSV58988633|2134|1||SNV|HGNC|HGNC:28706||||5||||||||1||||||0.9211|0.9062|0.9193|0.9137|0.9523|0.9182||||||||||0.9341|0.9091|0.9638|0.9329|0.9274|0.9194|0.9666|0.9304|0.9465|0.9336|0.9219|0.9666|gnomADg_FIN||0&1|0&1||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000483767|retained_intron|5/5||ENST00000483767.5:n.1508A>G||1508|||||rs2839&COSV58988633||-1||SNV|HGNC|HGNC:24517||||2||||||||||||||0.9211|0.9062|0.9193|0.9137|0.9523|0.9182||||||||||0.9341|0.9091|0.9638|0.9329|0.9274|0.9194|0.9666|0.9304|0.9465|0.9336|0.9219|0.9666|gnomADg_FIN||0&1|0&1||||||||||,C|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000496938|protein_coding_CDS_not_defined||||||||||rs2839&COSV58988633|1012|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.9211|0.9062|0.9193|0.9137|0.9523|0.9182||||||||||0.9341|0.9091|0.9638|0.9329|0.9274|0.9194|0.9666|0.9304|0.9465|0.9336|0.9219|0.9666|gnomADg_FIN||0&1|0&1||||||||||,C|3_prime_UTR_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding|14/14||ENST00000616016.5:c.*154T>C||3198|||||rs2839&COSV58988633||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.9211|0.9062|0.9193|0.9137|0.9523|0.9182||||||||||0.9341|0.9091|0.9638|0.9329|0.9274|0.9194|0.9666|0.9304|0.9465|0.9336|0.9219|0.9666|gnomADg_FIN||0&1|0&1||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||||||||||rs2839&COSV58988633|154|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.9211|0.9062|0.9193|0.9137|0.9523|0.9182||||||||||0.9341|0.9091|0.9638|0.9329|0.9274|0.9194|0.9666|0.9304|0.9465|0.9336|0.9219|0.9666|gnomADg_FIN||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||||||||||rs2839&COSV58988633|154|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.9211|0.9062|0.9193|0.9137|0.9523|0.9182||||||||||0.9341|0.9091|0.9638|0.9329|0.9274|0.9194|0.9666|0.9304|0.9465|0.9336|0.9219|0.9666|gnomADg_FIN||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||||||||||rs2839&COSV58988633|154|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.9211|0.9062|0.9193|0.9137|0.9523|0.9182||||||||||0.9341|0.9091|0.9638|0.9329|0.9274|0.9194|0.9666|0.9304|0.9465|0.9336|0.9219|0.9666|gnomADg_FIN||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|3_prime_UTR_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding|14/14||ENST00000618323.5:c.*154T>C||3201|||||rs2839&COSV58988633||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.9211|0.9062|0.9193|0.9137|0.9523|0.9182||||||||||0.9341|0.9091|0.9638|0.9329|0.9274|0.9194|0.9666|0.9304|0.9465|0.9336|0.9219|0.9666|gnomADg_FIN||0&1|0&1||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||||||||||rs2839&COSV58988633|154|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.9211|0.9062|0.9193|0.9137|0.9523|0.9182||||||||||0.9341|0.9091|0.9638|0.9329|0.9274|0.9194|0.9666|0.9304|0.9465|0.9336|0.9219|0.9666|gnomADg_FIN||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||||||||||rs2839&COSV58988633|154|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.9211|0.9062|0.9193|0.9137|0.9523|0.9182||||||||||0.9341|0.9091|0.9638|0.9329|0.9274|0.9194|0.9666|0.9304|0.9465|0.9336|0.9219|0.9666|gnomADg_FIN||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,106:0.984:106:0,0:0,55:0,62:0,0,55,51 -chr1 944573 . T A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=34%2C39|1%2C1;DP=82;ECNT=1;GERMQ=93;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=112;POPAF=7.3;TLOD=4.03;SRC=snv;GRP=s001;CSQ=A|3_prime_UTR_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding|19/19||ENST00000327044.7:c.*121A>T||2387|||||||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||||||||||||||||||||||||||||||||||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,A|3_prime_UTR_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding|12/12||ENST00000341065.8:c.*420T>A||2189|||||||1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||||||||||||||||||||||||||||||||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|3_prime_UTR_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding|14/14||ENST00000342066.8:c.*420T>A||2556|||||||1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000455979|protein_coding|||||||||||314|1|cds_start_NF|SNV|HGNC|HGNC:28706||||2|||ENSP00000412228||H7C3J6.55|UPI000155D479||1||||||||||||||||||||||||||||||||||||||||||||XALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVRRWGVRSGSPDHSWAESSGWVCDSPHQAISLQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000464948|retained_intron|||||||||||1681|1||SNV|HGNC|HGNC:28706||||2||||||||1||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000466827|retained_intron|||||||||||1771|1||SNV|HGNC|HGNC:28706||||3||||||||1||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000474461|retained_intron|||||||||||1579|1||SNV|HGNC|HGNC:28706||||5||||||||1||||||||||||||||||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron|17/17||ENST00000477976.5:n.3833A>T||3833|||||||-1||SNV|HGNC|HGNC:24517||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000478729|protein_coding_CDS_not_defined|||||||||||2400|1||SNV|HGNC|HGNC:28706||||5||||||||1||||||||||||||||||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000483767|retained_intron|5/5||ENST00000483767.5:n.1242A>T||1242|||||||-1||SNV|HGNC|HGNC:24517||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000496938|protein_coding_CDS_not_defined|||||||||||746|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|3_prime_UTR_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding|14/14||ENST00000616016.5:c.*420T>A||3464|||||||1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||||||||||||||||||||||||||||||||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding|||||||||||420|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding|||||||||||420|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding|||||||||||420|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|3_prime_UTR_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding|14/14||ENST00000618323.5:c.*420T>A||3467|||||||1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||||||||||||||||||||||||||||||||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding|||||||||||420|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding|||||||||||420|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000109|promoter||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:73,2:0.043:75:9,0:34,1:43,1:34,39,1,1 -chr1 944722 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=26%2C29|1%2C1;DP=59;ECNT=1;GERMQ=93;MBQ=33,34;MFRL=0,0;MMQ=59,60;MPOS=22;POPAF=7.3;TLOD=4.74;SRC=snv;GRP=s001;CSQ=C|missense_variant|MODERATE|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding|19/19||ENST00000327044.7:c.2222A>G|ENSP00000317992.6:p.Glu741Gly|2238|2222|741|E/G|gAg/gGg|||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C|||deleterious(0)|unknown(0)||||||||||||||||||||||||||||||||||||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding|||||||||||147|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||||||||||||||||||||||||||||||||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding|||||||||||148|1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000455979|protein_coding|||||||||||463|1|cds_start_NF|SNV|HGNC|HGNC:28706||||2|||ENSP00000412228||H7C3J6.55|UPI000155D479||1||||||||||||||||||||||||||||||||||||||||||||XALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVRRWGVRSGSPDHSWAESSGWVCDSPHQAISLQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000464948|retained_intron|||||||||||1830|1||SNV|HGNC|HGNC:28706||||2||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000466827|retained_intron|||||||||||1920|1||SNV|HGNC|HGNC:28706||||3||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000474461|retained_intron|||||||||||1728|1||SNV|HGNC|HGNC:28706||||5||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron|17/17||ENST00000477976.5:n.3684A>G||3684|||||||-1||SNV|HGNC|HGNC:24517||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000478729|protein_coding_CDS_not_defined|||||||||||2549|1||SNV|HGNC|HGNC:28706||||5||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000483767|retained_intron|5/5||ENST00000483767.5:n.1093A>G||1093|||||||-1||SNV|HGNC|HGNC:24517||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000496938|protein_coding_CDS_not_defined|||||||||||597|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding|||||||||||148|1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||||||||||||||||||||||||||||||||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding|||||||||||569|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding|||||||||||569|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding|||||||||||569|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding|||||||||||148|1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||||||||||||||||||||||||||||||||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding|||||||||||569|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding|||||||||||569|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000109|promoter||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:55,2:0.06:57:3,0:26,1:30,1:26,29,1,1 -chr1 944858 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=1;GERMQ=52;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=67;POPAF=7.3;TLOD=14.83;SRC=snv;GRP=s001;CSQ=G|intron_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||18/18|ENST00000327044.7:c.2144-58T>C|||||||rs3748592&COSV58986945||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||0.9209|0.9062|0.9193|0.9137|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9197|0.9667|0.9304|0.9465|0.9336|0.9216|0.9667|gnomADg_FIN||0&1|0&1||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||||||||||rs3748592&COSV58986945|283|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.9209|0.9062|0.9193|0.9137|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9197|0.9667|0.9304|0.9465|0.9336|0.9216|0.9667|gnomADg_FIN||0&1|0&1||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||||||||||rs3748592&COSV58986945|284|1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.9209|0.9062|0.9193|0.9137|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9197|0.9667|0.9304|0.9465|0.9336|0.9216|0.9667|gnomADg_FIN||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000455979|protein_coding||||||||||rs3748592&COSV58986945|599|1|cds_start_NF|SNV|HGNC|HGNC:28706||||2|||ENSP00000412228||H7C3J6.55|UPI000155D479||1||||||0.9209|0.9062|0.9193|0.9137|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9197|0.9667|0.9304|0.9465|0.9336|0.9216|0.9667|gnomADg_FIN||0&1|0&1||||||||XALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVRRWGVRSGSPDHSWAESSGWVCDSPHQAISLQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000464948|retained_intron||||||||||rs3748592&COSV58986945|1966|1||SNV|HGNC|HGNC:28706||||2||||||||1||||||0.9209|0.9062|0.9193|0.9137|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9197|0.9667|0.9304|0.9465|0.9336|0.9216|0.9667|gnomADg_FIN||0&1|0&1||||||||||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000466827|retained_intron||||||||||rs3748592&COSV58986945|2056|1||SNV|HGNC|HGNC:28706||||3||||||||1||||||0.9209|0.9062|0.9193|0.9137|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9197|0.9667|0.9304|0.9465|0.9336|0.9216|0.9667|gnomADg_FIN||0&1|0&1||||||||||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000474461|retained_intron||||||||||rs3748592&COSV58986945|1864|1||SNV|HGNC|HGNC:28706||||5||||||||1||||||0.9209|0.9062|0.9193|0.9137|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9197|0.9667|0.9304|0.9465|0.9336|0.9216|0.9667|gnomADg_FIN||0&1|0&1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron||16/16|ENST00000477976.5:n.3606-58T>C|||||||rs3748592&COSV58986945||-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.9209|0.9062|0.9193|0.9137|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9197|0.9667|0.9304|0.9465|0.9336|0.9216|0.9667|gnomADg_FIN||0&1|0&1||||||||||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000478729|protein_coding_CDS_not_defined||||||||||rs3748592&COSV58986945|2685|1||SNV|HGNC|HGNC:28706||||5||||||||1||||||0.9209|0.9062|0.9193|0.9137|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9197|0.9667|0.9304|0.9465|0.9336|0.9216|0.9667|gnomADg_FIN||0&1|0&1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000483767|retained_intron||4/4|ENST00000483767.5:n.1015-58T>C|||||||rs3748592&COSV58986945||-1||SNV|HGNC|HGNC:24517||||2||||||||||||||0.9209|0.9062|0.9193|0.9137|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9197|0.9667|0.9304|0.9465|0.9336|0.9216|0.9667|gnomADg_FIN||0&1|0&1||||||||||,G|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000496938|protein_coding_CDS_not_defined||||||||||rs3748592&COSV58986945|461|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.9209|0.9062|0.9193|0.9137|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9197|0.9667|0.9304|0.9465|0.9336|0.9216|0.9667|gnomADg_FIN||0&1|0&1||||||||||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||||||||||rs3748592&COSV58986945|284|1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.9209|0.9062|0.9193|0.9137|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9197|0.9667|0.9304|0.9465|0.9336|0.9216|0.9667|gnomADg_FIN||0&1|0&1||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||||||||||rs3748592&COSV58986945|705|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.9209|0.9062|0.9193|0.9137|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9197|0.9667|0.9304|0.9465|0.9336|0.9216|0.9667|gnomADg_FIN||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||||||||||rs3748592&COSV58986945|705|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.9209|0.9062|0.9193|0.9137|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9197|0.9667|0.9304|0.9465|0.9336|0.9216|0.9667|gnomADg_FIN||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||||||||||rs3748592&COSV58986945|705|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.9209|0.9062|0.9193|0.9137|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9197|0.9667|0.9304|0.9465|0.9336|0.9216|0.9667|gnomADg_FIN||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||||||||||rs3748592&COSV58986945|284|1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.9209|0.9062|0.9193|0.9137|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9197|0.9667|0.9304|0.9465|0.9336|0.9216|0.9667|gnomADg_FIN||0&1|0&1||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||||||||||rs3748592&COSV58986945|705|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.9209|0.9062|0.9193|0.9137|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9197|0.9667|0.9304|0.9465|0.9336|0.9216|0.9667|gnomADg_FIN||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||||||||||rs3748592&COSV58986945|705|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.9209|0.9062|0.9193|0.9137|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9197|0.9667|0.9304|0.9465|0.9336|0.9216|0.9667|gnomADg_FIN||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 945827 . A T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5%2C3|1%2C1;DP=10;ECNT=1;GERMQ=45;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=45;POPAF=7.3;TLOD=5.83;SRC=snv;GRP=s001;CSQ=T|intron_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||16/18|ENST00000327044.7:c.1918-174T>A|||||||||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||||||||||||||||||||||||||||||||||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,T|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding|||||||||||1252|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||||||||||||||||||||||||||||||||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding|||||||||||1253|1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000455979|protein_coding|||||||||||1568|1|cds_start_NF|SNV|HGNC|HGNC:28706||||2|||ENSP00000412228||H7C3J6.55|UPI000155D479||1||||||||||||||||||||||||||||||||||||||||||||XALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVRRWGVRSGSPDHSWAESSGWVCDSPHQAISLQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000464948|retained_intron|||||||||||2935|1||SNV|HGNC|HGNC:28706||||2||||||||1||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000466827|retained_intron|||||||||||3025|1||SNV|HGNC|HGNC:28706||||3||||||||1||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000474461|retained_intron|||||||||||2833|1||SNV|HGNC|HGNC:28706||||5||||||||1||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron||14/16|ENST00000477976.5:n.3365-174T>A|||||||||-1||SNV|HGNC|HGNC:24517||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000478729|protein_coding_CDS_not_defined|||||||||||3654|1||SNV|HGNC|HGNC:28706||||5||||||||1||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000483767|retained_intron||2/4|ENST00000483767.5:n.774-174T>A|||||||||-1||SNV|HGNC|HGNC:24517||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000496938|protein_coding_CDS_not_defined|||||||||||265|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding|||||||||||1253|1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||||||||||||||||||||||||||||||||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding|||||||||||1674|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding|||||||||||1674|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding|||||||||||1674|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding|||||||||||1253|1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||||||||||||||||||||||||||||||||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding|||||||||||1674|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,T|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding|||||||||||1674|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:8,2:0.25:10:0,0:5,1:5,1:5,3,1,1 -chr1 946247 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C2|1%2C1;DP=6;ECNT=1;GERMQ=39;MBQ=34,33;MFRL=0,0;MMQ=60,39;MPOS=45;POPAF=7.3;TLOD=6.15;SRC=snv;GRP=s001;CSQ=A|synonymous_variant|LOW|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding|16/19||ENST00000327044.7:c.1843C>T|ENSP00000317992.6:p.Leu615%3D|1859|1843|615|L|Ctg/Ttg|rs2272757&COSV58986455||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||0.4419|0.0643|0.438|0.624|0.6332|0.5706|0.5696|0.1314|0.4859|0.5436|0.6586|0.6262|0.6363|0.5668|0.5655|0.4817|0.145|0.5143|0.4817|0.5614|0.6582|0.6286|0.5669|0.638|0.511|0.5769|0.6586|gnomADe_EAS||0&1|0&1||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||||||||||rs2272757&COSV58986455|1672|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.4419|0.0643|0.438|0.624|0.6332|0.5706|0.5696|0.1314|0.4859|0.5436|0.6586|0.6262|0.6363|0.5668|0.5655|0.4817|0.145|0.5143|0.4817|0.5614|0.6582|0.6286|0.5669|0.638|0.511|0.5769|0.6586|gnomADe_EAS||0&1|0&1||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||||||||||rs2272757&COSV58986455|1673|1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.4419|0.0643|0.438|0.624|0.6332|0.5706|0.5696|0.1314|0.4859|0.5436|0.6586|0.6262|0.6363|0.5668|0.5655|0.4817|0.145|0.5143|0.4817|0.5614|0.6582|0.6286|0.5669|0.638|0.511|0.5769|0.6586|gnomADe_EAS||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000455979|protein_coding||||||||||rs2272757&COSV58986455|1988|1|cds_start_NF|SNV|HGNC|HGNC:28706||||2|||ENSP00000412228||H7C3J6.55|UPI000155D479||1||||||0.4419|0.0643|0.438|0.624|0.6332|0.5706|0.5696|0.1314|0.4859|0.5436|0.6586|0.6262|0.6363|0.5668|0.5655|0.4817|0.145|0.5143|0.4817|0.5614|0.6582|0.6286|0.5669|0.638|0.511|0.5769|0.6586|gnomADe_EAS||0&1|0&1||||||||XALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVRRWGVRSGSPDHSWAESSGWVCDSPHQAISLQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000464948|retained_intron||||||||||rs2272757&COSV58986455|3355|1||SNV|HGNC|HGNC:28706||||2||||||||1||||||0.4419|0.0643|0.438|0.624|0.6332|0.5706|0.5696|0.1314|0.4859|0.5436|0.6586|0.6262|0.6363|0.5668|0.5655|0.4817|0.145|0.5143|0.4817|0.5614|0.6582|0.6286|0.5669|0.638|0.511|0.5769|0.6586|gnomADe_EAS||0&1|0&1||||||||||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000466827|retained_intron||||||||||rs2272757&COSV58986455|3445|1||SNV|HGNC|HGNC:28706||||3||||||||1||||||0.4419|0.0643|0.438|0.624|0.6332|0.5706|0.5696|0.1314|0.4859|0.5436|0.6586|0.6262|0.6363|0.5668|0.5655|0.4817|0.145|0.5143|0.4817|0.5614|0.6582|0.6286|0.5669|0.638|0.511|0.5769|0.6586|gnomADe_EAS||0&1|0&1||||||||||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000474461|retained_intron||||||||||rs2272757&COSV58986455|3253|1||SNV|HGNC|HGNC:28706||||5||||||||1||||||0.4419|0.0643|0.438|0.624|0.6332|0.5706|0.5696|0.1314|0.4859|0.5436|0.6586|0.6262|0.6363|0.5668|0.5655|0.4817|0.145|0.5143|0.4817|0.5614|0.6582|0.6286|0.5669|0.638|0.511|0.5769|0.6586|gnomADe_EAS||0&1|0&1||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron|14/17||ENST00000477976.5:n.3290C>T||3290|||||rs2272757&COSV58986455||-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.4419|0.0643|0.438|0.624|0.6332|0.5706|0.5696|0.1314|0.4859|0.5436|0.6586|0.6262|0.6363|0.5668|0.5655|0.4817|0.145|0.5143|0.4817|0.5614|0.6582|0.6286|0.5669|0.638|0.511|0.5769|0.6586|gnomADe_EAS||0&1|0&1||||||||||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000478729|protein_coding_CDS_not_defined||||||||||rs2272757&COSV58986455|4074|1||SNV|HGNC|HGNC:28706||||5||||||||1||||||0.4419|0.0643|0.438|0.624|0.6332|0.5706|0.5696|0.1314|0.4859|0.5436|0.6586|0.6262|0.6363|0.5668|0.5655|0.4817|0.145|0.5143|0.4817|0.5614|0.6582|0.6286|0.5669|0.638|0.511|0.5769|0.6586|gnomADe_EAS||0&1|0&1||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000483767|retained_intron|2/5||ENST00000483767.5:n.699C>T||699|||||rs2272757&COSV58986455||-1||SNV|HGNC|HGNC:24517||||2||||||||||||||0.4419|0.0643|0.438|0.624|0.6332|0.5706|0.5696|0.1314|0.4859|0.5436|0.6586|0.6262|0.6363|0.5668|0.5655|0.4817|0.145|0.5143|0.4817|0.5614|0.6582|0.6286|0.5669|0.638|0.511|0.5769|0.6586|gnomADe_EAS||0&1|0&1||||||||||,A|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000496938|protein_coding_CDS_not_defined||||||||||rs2272757&COSV58986455|685|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.4419|0.0643|0.438|0.624|0.6332|0.5706|0.5696|0.1314|0.4859|0.5436|0.6586|0.6262|0.6363|0.5668|0.5655|0.4817|0.145|0.5143|0.4817|0.5614|0.6582|0.6286|0.5669|0.638|0.511|0.5769|0.6586|gnomADe_EAS||0&1|0&1||||||||||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||||||||||rs2272757&COSV58986455|1673|1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.4419|0.0643|0.438|0.624|0.6332|0.5706|0.5696|0.1314|0.4859|0.5436|0.6586|0.6262|0.6363|0.5668|0.5655|0.4817|0.145|0.5143|0.4817|0.5614|0.6582|0.6286|0.5669|0.638|0.511|0.5769|0.6586|gnomADe_EAS||0&1|0&1||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||||||||||rs2272757&COSV58986455|2094|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.4419|0.0643|0.438|0.624|0.6332|0.5706|0.5696|0.1314|0.4859|0.5436|0.6586|0.6262|0.6363|0.5668|0.5655|0.4817|0.145|0.5143|0.4817|0.5614|0.6582|0.6286|0.5669|0.638|0.511|0.5769|0.6586|gnomADe_EAS||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||||||||||rs2272757&COSV58986455|2094|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.4419|0.0643|0.438|0.624|0.6332|0.5706|0.5696|0.1314|0.4859|0.5436|0.6586|0.6262|0.6363|0.5668|0.5655|0.4817|0.145|0.5143|0.4817|0.5614|0.6582|0.6286|0.5669|0.638|0.511|0.5769|0.6586|gnomADe_EAS||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||||||||||rs2272757&COSV58986455|2094|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.4419|0.0643|0.438|0.624|0.6332|0.5706|0.5696|0.1314|0.4859|0.5436|0.6586|0.6262|0.6363|0.5668|0.5655|0.4817|0.145|0.5143|0.4817|0.5614|0.6582|0.6286|0.5669|0.638|0.511|0.5769|0.6586|gnomADe_EAS||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||||||||||rs2272757&COSV58986455|1673|1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.4419|0.0643|0.438|0.624|0.6332|0.5706|0.5696|0.1314|0.4859|0.5436|0.6586|0.6262|0.6363|0.5668|0.5655|0.4817|0.145|0.5143|0.4817|0.5614|0.6582|0.6286|0.5669|0.638|0.511|0.5769|0.6586|gnomADe_EAS||0&1|0&1||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||||||||||rs2272757&COSV58986455|2094|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.4419|0.0643|0.438|0.624|0.6332|0.5706|0.5696|0.1314|0.4859|0.5436|0.6586|0.6262|0.6363|0.5668|0.5655|0.4817|0.145|0.5143|0.4817|0.5614|0.6582|0.6286|0.5669|0.638|0.511|0.5769|0.6586|gnomADe_EAS||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||||||||||rs2272757&COSV58986455|2094|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.4419|0.0643|0.438|0.624|0.6332|0.5706|0.5696|0.1314|0.4859|0.5436|0.6586|0.6262|0.6363|0.5668|0.5655|0.4817|0.145|0.5143|0.4817|0.5614|0.6582|0.6286|0.5669|0.638|0.511|0.5769|0.6586|gnomADe_EAS||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,2:0.333:6:1,0:2,1:3,1:2,2,1,1 -chr1 946538 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C2|1%2C1;DP=6;ECNT=1;GERMQ=39;MBQ=33,34;MFRL=0,0;MMQ=60,31;MPOS=10;POPAF=7.3;TLOD=4.87;SRC=snv;GRP=s001;CSQ=A|missense_variant|MODERATE|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding|15/19||ENST00000327044.7:c.1667C>T|ENSP00000317992.6:p.Ser556Leu|1683|1667|556|S/L|tCg/tTg|rs35471880||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C|||deleterious(0.03)|benign(0.18)||||0.0294|0.0038|0.0259|0|0.0567|0.0685|0.04557|0.01029|0.02083|0.03647|0.0001089|0.03013|0.06356|0.04741|0.06653|0.04214|0.01153|0.08004|0.02931|0.02999|0|0.03077|0.07595|0.06692|0.03633|0.06862|0.08004|gnomADg_AMI|||||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||||||||||rs35471880|1963|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.0294|0.0038|0.0259|0|0.0567|0.0685|0.04557|0.01029|0.02083|0.03647|0.0001089|0.03013|0.06356|0.04741|0.06653|0.04214|0.01153|0.08004|0.02931|0.02999|0|0.03077|0.07595|0.06692|0.03633|0.06862|0.08004|gnomADg_AMI|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||||||||||rs35471880|1964|1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.0294|0.0038|0.0259|0|0.0567|0.0685|0.04557|0.01029|0.02083|0.03647|0.0001089|0.03013|0.06356|0.04741|0.06653|0.04214|0.01153|0.08004|0.02931|0.02999|0|0.03077|0.07595|0.06692|0.03633|0.06862|0.08004|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000455979|protein_coding||||||||||rs35471880|2279|1|cds_start_NF|SNV|HGNC|HGNC:28706||||2|||ENSP00000412228||H7C3J6.55|UPI000155D479||1||||||0.0294|0.0038|0.0259|0|0.0567|0.0685|0.04557|0.01029|0.02083|0.03647|0.0001089|0.03013|0.06356|0.04741|0.06653|0.04214|0.01153|0.08004|0.02931|0.02999|0|0.03077|0.07595|0.06692|0.03633|0.06862|0.08004|gnomADg_AMI|||||||||||XALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVRRWGVRSGSPDHSWAESSGWVCDSPHQAISLQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000464948|retained_intron||||||||||rs35471880|3646|1||SNV|HGNC|HGNC:28706||||2||||||||1||||||0.0294|0.0038|0.0259|0|0.0567|0.0685|0.04557|0.01029|0.02083|0.03647|0.0001089|0.03013|0.06356|0.04741|0.06653|0.04214|0.01153|0.08004|0.02931|0.02999|0|0.03077|0.07595|0.06692|0.03633|0.06862|0.08004|gnomADg_AMI|||||||||||||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000466827|retained_intron||||||||||rs35471880|3736|1||SNV|HGNC|HGNC:28706||||3||||||||1||||||0.0294|0.0038|0.0259|0|0.0567|0.0685|0.04557|0.01029|0.02083|0.03647|0.0001089|0.03013|0.06356|0.04741|0.06653|0.04214|0.01153|0.08004|0.02931|0.02999|0|0.03077|0.07595|0.06692|0.03633|0.06862|0.08004|gnomADg_AMI|||||||||||||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000474461|retained_intron||||||||||rs35471880|3544|1||SNV|HGNC|HGNC:28706||||5||||||||1||||||0.0294|0.0038|0.0259|0|0.0567|0.0685|0.04557|0.01029|0.02083|0.03647|0.0001089|0.03013|0.06356|0.04741|0.06653|0.04214|0.01153|0.08004|0.02931|0.02999|0|0.03077|0.07595|0.06692|0.03633|0.06862|0.08004|gnomADg_AMI|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron|13/17||ENST00000477976.5:n.3114C>T||3114|||||rs35471880||-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.0294|0.0038|0.0259|0|0.0567|0.0685|0.04557|0.01029|0.02083|0.03647|0.0001089|0.03013|0.06356|0.04741|0.06653|0.04214|0.01153|0.08004|0.02931|0.02999|0|0.03077|0.07595|0.06692|0.03633|0.06862|0.08004|gnomADg_AMI|||||||||||||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000478729|protein_coding_CDS_not_defined||||||||||rs35471880|4365|1||SNV|HGNC|HGNC:28706||||5||||||||1||||||0.0294|0.0038|0.0259|0|0.0567|0.0685|0.04557|0.01029|0.02083|0.03647|0.0001089|0.03013|0.06356|0.04741|0.06653|0.04214|0.01153|0.08004|0.02931|0.02999|0|0.03077|0.07595|0.06692|0.03633|0.06862|0.08004|gnomADg_AMI|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000483767|retained_intron|1/5||ENST00000483767.5:n.523C>T||523|||||rs35471880||-1||SNV|HGNC|HGNC:24517||||2||||||||||||||0.0294|0.0038|0.0259|0|0.0567|0.0685|0.04557|0.01029|0.02083|0.03647|0.0001089|0.03013|0.06356|0.04741|0.06653|0.04214|0.01153|0.08004|0.02931|0.02999|0|0.03077|0.07595|0.06692|0.03633|0.06862|0.08004|gnomADg_AMI|||||||||||||,A|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000496938|protein_coding_CDS_not_defined||||||||||rs35471880|976|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.0294|0.0038|0.0259|0|0.0567|0.0685|0.04557|0.01029|0.02083|0.03647|0.0001089|0.03013|0.06356|0.04741|0.06653|0.04214|0.01153|0.08004|0.02931|0.02999|0|0.03077|0.07595|0.06692|0.03633|0.06862|0.08004|gnomADg_AMI|||||||||||||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||||||||||rs35471880|1964|1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.0294|0.0038|0.0259|0|0.0567|0.0685|0.04557|0.01029|0.02083|0.03647|0.0001089|0.03013|0.06356|0.04741|0.06653|0.04214|0.01153|0.08004|0.02931|0.02999|0|0.03077|0.07595|0.06692|0.03633|0.06862|0.08004|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||||||||||rs35471880|2385|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.0294|0.0038|0.0259|0|0.0567|0.0685|0.04557|0.01029|0.02083|0.03647|0.0001089|0.03013|0.06356|0.04741|0.06653|0.04214|0.01153|0.08004|0.02931|0.02999|0|0.03077|0.07595|0.06692|0.03633|0.06862|0.08004|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||||||||||rs35471880|2385|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.0294|0.0038|0.0259|0|0.0567|0.0685|0.04557|0.01029|0.02083|0.03647|0.0001089|0.03013|0.06356|0.04741|0.06653|0.04214|0.01153|0.08004|0.02931|0.02999|0|0.03077|0.07595|0.06692|0.03633|0.06862|0.08004|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||||||||||rs35471880|2385|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.0294|0.0038|0.0259|0|0.0567|0.0685|0.04557|0.01029|0.02083|0.03647|0.0001089|0.03013|0.06356|0.04741|0.06653|0.04214|0.01153|0.08004|0.02931|0.02999|0|0.03077|0.07595|0.06692|0.03633|0.06862|0.08004|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||||||||||rs35471880|1964|1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.0294|0.0038|0.0259|0|0.0567|0.0685|0.04557|0.01029|0.02083|0.03647|0.0001089|0.03013|0.06356|0.04741|0.06653|0.04214|0.01153|0.08004|0.02931|0.02999|0|0.03077|0.07595|0.06692|0.03633|0.06862|0.08004|gnomADg_AMI|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||||||||||rs35471880|2385|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.0294|0.0038|0.0259|0|0.0567|0.0685|0.04557|0.01029|0.02083|0.03647|0.0001089|0.03013|0.06356|0.04741|0.06653|0.04214|0.01153|0.08004|0.02931|0.02999|0|0.03077|0.07595|0.06692|0.03633|0.06862|0.08004|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||||||||||rs35471880|2385|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.0294|0.0038|0.0259|0|0.0567|0.0685|0.04557|0.01029|0.02083|0.03647|0.0001089|0.03013|0.06356|0.04741|0.06653|0.04214|0.01153|0.08004|0.02931|0.02999|0|0.03077|0.07595|0.06692|0.03633|0.06862|0.08004|gnomADg_AMI|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,2:0.5:6:0,1:2,1:2,2:2,2,1,1 -chr1 947371 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C1|1%2C1;DP=6;ECNT=2;GERMQ=39;MBQ=32,34;MFRL=0,0;MMQ=60,60;MPOS=37;POPAF=7.3;TLOD=6.35;SRC=snv;GRP=s001;CSQ=C|intron_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||14/18|ENST00000327044.7:c.1659+760A>G|||||||rs1642142538||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||||||||||||||||||||||||||||||||||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||||||||||rs1642142538|2796|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||||||||||||||||||||||||||||||||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||||||||||rs1642142538|2797|1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000455979|protein_coding||||||||||rs1642142538|3112|1|cds_start_NF|SNV|HGNC|HGNC:28706||||2|||ENSP00000412228||H7C3J6.55|UPI000155D479||1||||||||||||||||||||||||||||||||||||||||||||XALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVRRWGVRSGSPDHSWAESSGWVCDSPHQAISLQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000464948|retained_intron||||||||||rs1642142538|4479|1||SNV|HGNC|HGNC:28706||||2||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000466827|retained_intron||||||||||rs1642142538|4569|1||SNV|HGNC|HGNC:28706||||3||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000474461|retained_intron||||||||||rs1642142538|4377|1||SNV|HGNC|HGNC:28706||||5||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron||12/16|ENST00000477976.5:n.3106+760A>G|||||||rs1642142538||-1||SNV|HGNC|HGNC:24517||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000483767|retained_intron||||||||||rs1642142538|311|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000496938|protein_coding_CDS_not_defined||||||||||rs1642142538|1809|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||||||||||rs1642142538|2797|1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||||||||||||||||||||||||||||||||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||||||||||rs1642142538|3218|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||||||||||rs1642142538|3218|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||||||||||rs1642142538|3218|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||||||||||rs1642142538|2797|1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||||||||||||||||||||||||||||||||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||||||||||rs1642142538|3218|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,C|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||||||||||rs1642142538|3218|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||||||||||||||||||||||||||||||||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,2:0.333:6:0,0:3,1:3,1:3,1,1,1 -chr1 947423 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|5%2C3;DP=9;ECNT=2;GERMQ=63;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=97;POPAF=7.3;TLOD=29.94;SRC=snv;GRP=s001;CSQ=G|intron_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||14/18|ENST00000327044.7:c.1659+708T>C|||||||rs2340582||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||0.9221|0.9062|0.9193|0.9196|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9239|0.9648|0.9304|0.9464|0.934|0.9215|0.9648|gnomADg_FIN|||||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||||||||||rs2340582|2848|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.9221|0.9062|0.9193|0.9196|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9239|0.9648|0.9304|0.9464|0.934|0.9215|0.9648|gnomADg_FIN|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||||||||||rs2340582|2849|1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.9221|0.9062|0.9193|0.9196|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9239|0.9648|0.9304|0.9464|0.934|0.9215|0.9648|gnomADg_FIN|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000455979|protein_coding||||||||||rs2340582|3164|1|cds_start_NF|SNV|HGNC|HGNC:28706||||2|||ENSP00000412228||H7C3J6.55|UPI000155D479||1||||||0.9221|0.9062|0.9193|0.9196|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9239|0.9648|0.9304|0.9464|0.934|0.9215|0.9648|gnomADg_FIN|||||||||||XALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVRRWGVRSGSPDHSWAESSGWVCDSPHQAISLQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000464948|retained_intron||||||||||rs2340582|4531|1||SNV|HGNC|HGNC:28706||||2||||||||1||||||0.9221|0.9062|0.9193|0.9196|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9239|0.9648|0.9304|0.9464|0.934|0.9215|0.9648|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000466827|retained_intron||||||||||rs2340582|4621|1||SNV|HGNC|HGNC:28706||||3||||||||1||||||0.9221|0.9062|0.9193|0.9196|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9239|0.9648|0.9304|0.9464|0.934|0.9215|0.9648|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000474461|retained_intron||||||||||rs2340582|4429|1||SNV|HGNC|HGNC:28706||||5||||||||1||||||0.9221|0.9062|0.9193|0.9196|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9239|0.9648|0.9304|0.9464|0.934|0.9215|0.9648|gnomADg_FIN|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron||12/16|ENST00000477976.5:n.3106+708T>C|||||||rs2340582||-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.9221|0.9062|0.9193|0.9196|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9239|0.9648|0.9304|0.9464|0.934|0.9215|0.9648|gnomADg_FIN|||||||||||||,G|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000483767|retained_intron||||||||||rs2340582|363|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||0.9221|0.9062|0.9193|0.9196|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9239|0.9648|0.9304|0.9464|0.934|0.9215|0.9648|gnomADg_FIN|||||||||||||,G|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000496938|protein_coding_CDS_not_defined||||||||||rs2340582|1861|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.9221|0.9062|0.9193|0.9196|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9239|0.9648|0.9304|0.9464|0.934|0.9215|0.9648|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||||||||||rs2340582|2849|1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.9221|0.9062|0.9193|0.9196|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9239|0.9648|0.9304|0.9464|0.934|0.9215|0.9648|gnomADg_FIN|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||||||||||rs2340582|3270|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||0.9221|0.9062|0.9193|0.9196|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9239|0.9648|0.9304|0.9464|0.934|0.9215|0.9648|gnomADg_FIN|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||||||||||rs2340582|3270|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||0.9221|0.9062|0.9193|0.9196|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9239|0.9648|0.9304|0.9464|0.934|0.9215|0.9648|gnomADg_FIN|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||||||||||rs2340582|3270|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||0.9221|0.9062|0.9193|0.9196|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9239|0.9648|0.9304|0.9464|0.934|0.9215|0.9648|gnomADg_FIN|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||||||||||rs2340582|2849|1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.9221|0.9062|0.9193|0.9196|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9239|0.9648|0.9304|0.9464|0.934|0.9215|0.9648|gnomADg_FIN|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||||||||||rs2340582|3270|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||0.9221|0.9062|0.9193|0.9196|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9239|0.9648|0.9304|0.9464|0.934|0.9215|0.9648|gnomADg_FIN|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||||||||||rs2340582|3270|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||0.9221|0.9062|0.9193|0.9196|0.9523|0.9172||||||||||0.9341|0.909|0.9638|0.9332|0.9274|0.9239|0.9648|0.9304|0.9464|0.934|0.9215|0.9648|gnomADg_FIN|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.857:8:0,0:0,5:0,5:0,0,5,3 -chr1 948245 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=59;POPAF=7.3;TLOD=3.48;SRC=snv;GRP=s001;CSQ=G|splice_polypyrimidine_tract_variant&intron_variant|LOW|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||13/18|ENST00000327044.7:c.1558-13T>C|||||||rs4970378||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||1.0000|1|1|1|1|1|1|0.9996|1|1|1|1|1|1|1|0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||||||||||rs4970378|3670|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||1.0000|1|1|1|1|1|1|0.9996|1|1|1|1|1|1|1|0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||||||||||rs4970378|3671|1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||1.0000|1|1|1|1|1|1|0.9996|1|1|1|1|1|1|1|0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000455979|protein_coding||||||||||rs4970378|3986|1|cds_start_NF|SNV|HGNC|HGNC:28706||||2|||ENSP00000412228||H7C3J6.55|UPI000155D479||1||||||1.0000|1|1|1|1|1|1|0.9996|1|1|1|1|1|1|1|0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||XALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVRRWGVRSGSPDHSWAESSGWVCDSPHQAISLQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|splice_polypyrimidine_tract_variant&intron_variant&non_coding_transcript_variant|LOW|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron||11/16|ENST00000477976.5:n.3005-13T>C|||||||rs4970378||-1||SNV|HGNC|HGNC:24517||||5||||||||||||||1.0000|1|1|1|1|1|1|0.9996|1|1|1|1|1|1|1|0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000483767|retained_intron||||||||||rs4970378|1185|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||1.0000|1|1|1|1|1|1|0.9996|1|1|1|1|1|1|1|0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000496938|protein_coding_CDS_not_defined||||||||||rs4970378|2683|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||1.0000|1|1|1|1|1|1|0.9996|1|1|1|1|1|1|1|0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||||||||||rs4970378|3671|1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||1.0000|1|1|1|1|1|1|0.9996|1|1|1|1|1|1|1|0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||||||||||rs4970378|4092|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1||||||1.0000|1|1|1|1|1|1|0.9996|1|1|1|1|1|1|1|0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||||||||||rs4970378|4092|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1||||||1.0000|1|1|1|1|1|1|0.9996|1|1|1|1|1|1|1|0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||||||||||rs4970378|4092|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1||||||1.0000|1|1|1|1|1|1|0.9996|1|1|1|1|1|1|1|0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||||||||||rs4970378|3671|1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||1.0000|1|1|1|1|1|1|0.9996|1|1|1|1|1|1|1|0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||||||||||rs4970378|4092|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1||||||1.0000|1|1|1|1|1|1|0.9996|1|1|1|1|1|1|1|0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||||||||||rs4970378|4092|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1||||||1.0000|1|1|1|1|1|1|0.9996|1|1|1|1|1|1|1|0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 948711 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C2;DP=5;ECNT=1;GERMQ=55;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=109;POPAF=7.3;TLOD=18.88;SRC=snv;GRP=s001;CSQ=G|intron_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||12/18|ENST00000327044.7:c.1444-108G>C|||||||rs7522415&COSV58986347||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C|||||||||||||||||||||||0.03311|0.1091|0|0.02095|0.001472|0.001596|0.001084|0.003226|0.002415|0.02854|0.002785|0.1091|gnomADg_AFR||0&1|0&1||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||||||||||rs7522415&COSV58986347|4136|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1|||||||||||||||||||||0.03311|0.1091|0|0.02095|0.001472|0.001596|0.001084|0.003226|0.002415|0.02854|0.002785|0.1091|gnomADg_AFR||0&1|0&1||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||||||||||rs7522415&COSV58986347|4137|1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1|||||||||||||||||||||0.03311|0.1091|0|0.02095|0.001472|0.001596|0.001084|0.003226|0.002415|0.02854|0.002785|0.1091|gnomADg_AFR||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000455979|protein_coding||||||||||rs7522415&COSV58986347|4452|1|cds_start_NF|SNV|HGNC|HGNC:28706||||2|||ENSP00000412228||H7C3J6.55|UPI000155D479||1|||||||||||||||||||||0.03311|0.1091|0|0.02095|0.001472|0.001596|0.001084|0.003226|0.002415|0.02854|0.002785|0.1091|gnomADg_AFR||0&1|0&1||||||||XALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVRRWGVRSGSPDHSWAESSGWVCDSPHQAISLQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant&non_coding_transcript_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron||10/16|ENST00000477976.5:n.2891-108G>C|||||||rs7522415&COSV58986347||-1||SNV|HGNC|HGNC:24517||||5|||||||||||||||||||||||||||||0.03311|0.1091|0|0.02095|0.001472|0.001596|0.001084|0.003226|0.002415|0.02854|0.002785|0.1091|gnomADg_AFR||0&1|0&1||||||||||,G|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000483767|retained_intron||||||||||rs7522415&COSV58986347|1651|-1||SNV|HGNC|HGNC:24517||||2|||||||||||||||||||||||||||||0.03311|0.1091|0|0.02095|0.001472|0.001596|0.001084|0.003226|0.002415|0.02854|0.002785|0.1091|gnomADg_AFR||0&1|0&1||||||||||,G|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000496938|protein_coding_CDS_not_defined||||||||||rs7522415&COSV58986347|3149|-1||SNV|HGNC|HGNC:24517||||5|||||||||||||||||||||||||||||0.03311|0.1091|0|0.02095|0.001472|0.001596|0.001084|0.003226|0.002415|0.02854|0.002785|0.1091|gnomADg_AFR||0&1|0&1||||||||||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||||||||||rs7522415&COSV58986347|4137|1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1|||||||||||||||||||||0.03311|0.1091|0|0.02095|0.001472|0.001596|0.001084|0.003226|0.002415|0.02854|0.002785|0.1091|gnomADg_AFR||0&1|0&1||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616125|protein_coding||||||||||rs7522415&COSV58986347|4558|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484643||A0A087X223.42|UPI0004E4CACB||1|||||||||||||||||||||0.03311|0.1091|0|0.02095|0.001472|0.001596|0.001084|0.003226|0.002415|0.02854|0.002785|0.1091|gnomADg_AFR||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000617307|protein_coding||||||||||rs7522415&COSV58986347|4558|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482090||A0A087WYU3.39|UPI00194D500F||1|||||||||||||||||||||0.03311|0.1091|0|0.02095|0.001472|0.001596|0.001084|0.003226|0.002415|0.02854|0.002785|0.1091|gnomADg_AFR||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618181|protein_coding||||||||||rs7522415&COSV58986347|4558|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000480870||A0A087WXB3.39|UPI0004E4CAA9||1|||||||||||||||||||||0.03311|0.1091|0|0.02095|0.001472|0.001596|0.001084|0.003226|0.002415|0.02854|0.002785|0.1091|gnomADg_AFR||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||||||||||rs7522415&COSV58986347|4137|1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1|||||||||||||||||||||0.03311|0.1091|0|0.02095|0.001472|0.001596|0.001084|0.003226|0.002415|0.02854|0.002785|0.1091|gnomADg_AFR||0&1|0&1||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618779|protein_coding||||||||||rs7522415&COSV58986347|4558|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000484256||A0A087X1J5.39|UPI0004E4CB24||1|||||||||||||||||||||0.03311|0.1091|0|0.02095|0.001472|0.001596|0.001084|0.003226|0.002415|0.02854|0.002785|0.1091|gnomADg_AFR||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000622503|protein_coding||||||||||rs7522415&COSV58986347|4558|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000482138||A0A087WYW1.49|UPI0004E4CA1D||1|||||||||||||||||||||0.03311|0.1091|0|0.02095|0.001472|0.001596|0.001084|0.003226|0.002415|0.02854|0.002785|0.1091|gnomADg_AFR||0&1|0&1||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.8:5:0,0:0,3:0,3:0,0,3,2 -chr1 949435 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=1;GERMQ=52;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=46;POPAF=7.3;TLOD=14.43;SRC=snv;GRP=s001;CSQ=G|intron_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||12/18|ENST00000327044.7:c.1444-832T>C|||||||rs4246503||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||0.9197|0.8971|0.9193|0.9196|0.9523|0.9172||||||||||0.9313|0.8992|0.9638|0.9324|0.9274|0.9235|0.9647|0.9304|0.9464|0.9312|0.9214|0.9647|gnomADg_FIN|||||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000341065|protein_coding||||||||||rs4246503|4860|1|cds_start_NF|SNV|HGNC|HGNC:28706||||5|||ENSP00000349216||H7BY14.55|UPI000155D47A||1||||||0.9197|0.8971|0.9193|0.9196|0.9523|0.9172||||||||||0.9313|0.8992|0.9638|0.9324|0.9274|0.9235|0.9647|0.9304|0.9464|0.9312|0.9214|0.9647|gnomADg_FIN|||||||||||XHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000342066|protein_coding||||||||||rs4246503|4861|1||SNV|HGNC|HGNC:28706||||5||CCDS2.2|ENSP00000342313|Q96NU1.143||UPI0000D61E04|Q96NU1-3|1||||||0.9197|0.8971|0.9193|0.9196|0.9523|0.9172||||||||||0.9313|0.8992|0.9638|0.9324|0.9274|0.9235|0.9647|0.9304|0.9464|0.9312|0.9214|0.9647|gnomADg_FIN|||||||||||MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|intron_variant&non_coding_transcript_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron||10/16|ENST00000477976.5:n.2891-832T>C|||||||rs4246503||-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.9197|0.8971|0.9193|0.9196|0.9523|0.9172||||||||||0.9313|0.8992|0.9638|0.9324|0.9274|0.9235|0.9647|0.9304|0.9464|0.9312|0.9214|0.9647|gnomADg_FIN|||||||||||||,G|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000483767|retained_intron||||||||||rs4246503|2375|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||0.9197|0.8971|0.9193|0.9196|0.9523|0.9172||||||||||0.9313|0.8992|0.9638|0.9324|0.9274|0.9235|0.9647|0.9304|0.9464|0.9312|0.9214|0.9647|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000487214|protein_coding_CDS_not_defined||||||||||rs4246503|4991|-1||SNV|HGNC|HGNC:24517||||3||||||||||||||0.9197|0.8971|0.9193|0.9196|0.9523|0.9172||||||||||0.9313|0.8992|0.9638|0.9324|0.9274|0.9235|0.9647|0.9304|0.9464|0.9312|0.9214|0.9647|gnomADg_FIN|||||||||||||,G|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000496938|protein_coding_CDS_not_defined||||||||||rs4246503|3873|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.9197|0.8971|0.9193|0.9196|0.9523|0.9172||||||||||0.9313|0.8992|0.9638|0.9324|0.9274|0.9235|0.9647|0.9304|0.9464|0.9312|0.9214|0.9647|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000616016|protein_coding||||||||||rs4246503|4861|1||SNV|HGNC|HGNC:28706|YES|NM_001385641.1||5|A2|CCDS90834.1|ENSP00000478421||A0A087WU74.9|UPI0015DA7BD7||1||||||0.9197|0.8971|0.9193|0.9196|0.9523|0.9172||||||||||0.9313|0.8992|0.9638|0.9324|0.9274|0.9235|0.9647|0.9304|0.9464|0.9312|0.9214|0.9647|gnomADg_FIN|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC||,G|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|Transcript|ENST00000618323|protein_coding||||||||||rs4246503|4861|1||SNV|HGNC|HGNC:28706||||5|P5|CCDS90833.1|ENSP00000480678||A0A087WX24.37|UPI0015DAE665||1||||||0.9197|0.8971|0.9193|0.9196|0.9523|0.9172||||||||||0.9313|0.8992|0.9638|0.9324|0.9274|0.9235|0.9647|0.9304|0.9464|0.9312|0.9214|0.9647|gnomADg_FIN|||||||||||MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAAALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAAPDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRETAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQAEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 949628 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C2|1%2C1;DP=6;ECNT=1;GERMQ=39;MBQ=33,31;MFRL=0,0;MMQ=60,60;MPOS=78;POPAF=7.3;TLOD=5.97;SRC=snv;GRP=s001;CSQ=A|intron_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||12/18|ENST00000327044.7:c.1444-1025G>T|||||||||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||||||||||||||||||||||||||||||||||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,A|intron_variant&non_coding_transcript_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron||10/16|ENST00000477976.5:n.2891-1025G>T|||||||||-1||SNV|HGNC|HGNC:24517||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000483767|retained_intron|||||||||||2568|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000487214|protein_coding_CDS_not_defined|||||||||||4798|-1||SNV|HGNC|HGNC:24517||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000496938|protein_coding_CDS_not_defined|||||||||||4066|-1||SNV|HGNC|HGNC:24517||||5|||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,2:0.4:6:0,0:2,1:2,1:2,2,1,1 -chr1 950319 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=128;POPAF=7.3;TLOD=7.25;SRC=snv;GRP=s001;CSQ=G|intron_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||12/18|ENST00000327044.7:c.1443+808T>C|||||||rs4970376||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||0.9219|0.9062|0.9193|0.9187|0.9523|0.9172||||||||||0.9339|0.909|0.9638|0.9329|0.9273|0.9233|0.9638|0.9304|0.9463|0.9342|0.9214|0.9638|gnomADg_AMI&gnomADg_FIN|||||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,G|intron_variant&non_coding_transcript_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron||10/16|ENST00000477976.5:n.2890+808T>C|||||||rs4970376||-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.9219|0.9062|0.9193|0.9187|0.9523|0.9172||||||||||0.9339|0.909|0.9638|0.9329|0.9273|0.9233|0.9638|0.9304|0.9463|0.9342|0.9214|0.9638|gnomADg_AMI&gnomADg_FIN|||||||||||||,G|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000483767|retained_intron||||||||||rs4970376|3259|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||0.9219|0.9062|0.9193|0.9187|0.9523|0.9172||||||||||0.9339|0.909|0.9638|0.9329|0.9273|0.9233|0.9638|0.9304|0.9463|0.9342|0.9214|0.9638|gnomADg_AMI&gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000487214|protein_coding_CDS_not_defined||||||||||rs4970376|4107|-1||SNV|HGNC|HGNC:24517||||3||||||||||||||0.9219|0.9062|0.9193|0.9187|0.9523|0.9172||||||||||0.9339|0.909|0.9638|0.9329|0.9273|0.9233|0.9638|0.9304|0.9463|0.9342|0.9214|0.9638|gnomADg_AMI&gnomADg_FIN|||||||||||||,G|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000496938|protein_coding_CDS_not_defined||||||||||rs4970376|4757|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.9219|0.9062|0.9193|0.9187|0.9523|0.9172||||||||||0.9339|0.909|0.9638|0.9329|0.9273|0.9233|0.9638|0.9304|0.9463|0.9342|0.9214|0.9638|gnomADg_AMI&gnomADg_FIN||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 952421 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=8;ECNT=1;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,42;MPOS=142;POPAF=7.3;TLOD=10.9;SRC=snv;GRP=s001;CSQ=G|synonymous_variant|LOW|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding|10/19||ENST00000327044.7:c.1182T>C|ENSP00000317992.6:p.Thr394%3D|1198|1182|394|T|acT/acC|rs3828047&COSV58989914||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||0.9223|0.9062|0.9193|0.9206|0.9523|0.9172|0.9378|0.9065|0.9545|0.9355|0.911|0.9606|0.9422|0.9389|0.9198|0.9341|0.9093|0.9638|0.933|0.9274|0.9242|0.9648|0.9304|0.9463|0.9336|0.9215|0.9648|gnomADg_FIN||0&1|0&1|26308735|||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,G|non_coding_transcript_exon_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron|8/17||ENST00000477976.5:n.2629T>C||2629|||||rs3828047&COSV58989914||-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.9223|0.9062|0.9193|0.9206|0.9523|0.9172|0.9378|0.9065|0.9545|0.9355|0.911|0.9606|0.9422|0.9389|0.9198|0.9341|0.9093|0.9638|0.933|0.9274|0.9242|0.9648|0.9304|0.9463|0.9336|0.9215|0.9648|gnomADg_FIN||0&1|0&1|26308735|||||||||,G|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000487214|protein_coding_CDS_not_defined||||||||||rs3828047&COSV58989914|2005|-1||SNV|HGNC|HGNC:24517||||3||||||||||||||0.9223|0.9062|0.9193|0.9206|0.9523|0.9172|0.9378|0.9065|0.9545|0.9355|0.911|0.9606|0.9422|0.9389|0.9198|0.9341|0.9093|0.9638|0.933|0.9274|0.9242|0.9648|0.9304|0.9463|0.9336|0.9215|0.9648|gnomADg_FIN||0&1|0&1|26308735||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.787:3:0,1:0,1:0,2:0,0,1,2 -chr1 952567 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=13%2C15|1%2C1;DP=31;ECNT=1;GERMQ=91;MBQ=32,30;MFRL=0,0;MMQ=48,53;MPOS=12;POPAF=7.3;TLOD=4.46;SRC=snv;GRP=s001;CSQ=G|missense_variant|MODERATE|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding|10/19||ENST00000327044.7:c.1036T>C|ENSP00000317992.6:p.Phe346Leu|1052|1036|346|F/L|Ttc/Ctc|||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C|||deleterious(0)|probably_damaging(0.999)||||||||||||||||||||||||||||||||||||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,G|non_coding_transcript_exon_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron|8/17||ENST00000477976.5:n.2483T>C||2483|||||||-1||SNV|HGNC|HGNC:24517||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000487214|protein_coding_CDS_not_defined|||||||||||1859|-1||SNV|HGNC|HGNC:24517||||3|||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:28,2:0.104:30:3,0:13,1:16,1:13,15,1,1 -chr1 953259 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C4;DP=6;ECNT=2;GERMQ=58;MBQ=0,33;MFRL=0,0;MMQ=60,54;MPOS=114;POPAF=7.3;TLOD=17.66;SRC=snv;GRP=s001;CSQ=C|synonymous_variant|LOW|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding|9/19||ENST00000327044.7:c.918A>G|ENSP00000317992.6:p.Glu306%3D|934|918|306|E|gaA/gaG|rs3748596&COSV58989925||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||0.9227|0.907|0.9193|0.9206|0.9533|0.9172|0.9378|0.9066|0.9546|0.9354|0.9109|0.9606|0.9423|0.9386|0.9198|0.9342|0.9092|0.9638|0.9331|0.9274|0.9246|0.9647|0.9304|0.9464|0.934|0.9216|0.9647|gnomADg_FIN||0&1|0&1||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,C|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000469563|retained_intron||||||||||rs3748596&COSV58989925|4987|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||0.9227|0.907|0.9193|0.9206|0.9533|0.9172|0.9378|0.9066|0.9546|0.9354|0.9109|0.9606|0.9423|0.9386|0.9198|0.9342|0.9092|0.9638|0.9331|0.9274|0.9246|0.9647|0.9304|0.9464|0.934|0.9216|0.9647|gnomADg_FIN||0&1|0&1||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron|7/17||ENST00000477976.5:n.2365A>G||2365|||||rs3748596&COSV58989925||-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.9227|0.907|0.9193|0.9206|0.9533|0.9172|0.9378|0.9066|0.9546|0.9354|0.9109|0.9606|0.9423|0.9386|0.9198|0.9342|0.9092|0.9638|0.9331|0.9274|0.9246|0.9647|0.9304|0.9464|0.934|0.9216|0.9647|gnomADg_FIN||0&1|0&1||||||||||,C|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000487214|protein_coding_CDS_not_defined||||||||||rs3748596&COSV58989925|1167|-1||SNV|HGNC|HGNC:24517||||3||||||||||||||0.9227|0.907|0.9193|0.9206|0.9533|0.9172|0.9378|0.9066|0.9546|0.9354|0.9109|0.9606|0.9423|0.9386|0.9198|0.9342|0.9092|0.9638|0.9331|0.9274|0.9246|0.9647|0.9304|0.9464|0.934|0.9216|0.9647|gnomADg_FIN||0&1|0&1|||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.855:6:0,2:0,2:0,5:0,0,2,4 -chr1 953279 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C4;DP=5;ECNT=2;GERMQ=55;MBQ=0,34;MFRL=0,0;MMQ=60,48;MPOS=108;POPAF=7.3;TLOD=17.3;SRC=snv;GRP=s001;CSQ=C|missense_variant|MODERATE|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding|9/19||ENST00000327044.7:c.898A>G|ENSP00000317992.6:p.Ile300Val|914|898|300|I/V|Atc/Gtc|rs3748597&COSV58989936||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C|||tolerated(0.55)|benign(0)||||0.9227|0.907|0.9193|0.9206|0.9533|0.9172|0.9378|0.9066|0.9546|0.9355|0.9109|0.9606|0.9422|0.9388|0.9197|0.9342|0.9093|0.9638|0.9331|0.9274|0.9245|0.9647|0.9304|0.9464|0.9336|0.9214|0.9647|gnomADg_FIN||0&1|0&1|31242667|||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,C|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000469563|retained_intron||||||||||rs3748597&COSV58989936|4967|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||0.9227|0.907|0.9193|0.9206|0.9533|0.9172|0.9378|0.9066|0.9546|0.9355|0.9109|0.9606|0.9422|0.9388|0.9197|0.9342|0.9093|0.9638|0.9331|0.9274|0.9245|0.9647|0.9304|0.9464|0.9336|0.9214|0.9647|gnomADg_FIN||0&1|0&1|31242667|||||||||,C|non_coding_transcript_exon_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron|7/17||ENST00000477976.5:n.2345A>G||2345|||||rs3748597&COSV58989936||-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.9227|0.907|0.9193|0.9206|0.9533|0.9172|0.9378|0.9066|0.9546|0.9355|0.9109|0.9606|0.9422|0.9388|0.9197|0.9342|0.9093|0.9638|0.9331|0.9274|0.9245|0.9647|0.9304|0.9464|0.9336|0.9214|0.9647|gnomADg_FIN||0&1|0&1|31242667|||||||||,C|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000487214|protein_coding_CDS_not_defined||||||||||rs3748597&COSV58989936|1147|-1||SNV|HGNC|HGNC:24517||||3||||||||||||||0.9227|0.907|0.9193|0.9206|0.9533|0.9172|0.9378|0.9066|0.9546|0.9355|0.9109|0.9606|0.9422|0.9388|0.9197|0.9342|0.9093|0.9638|0.9331|0.9274|0.9245|0.9647|0.9304|0.9464|0.9336|0.9214|0.9647|gnomADg_FIN||0&1|0&1|31242667||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.857:5:0,3:0,1:0,5:0,0,1,4 -chr1 954258 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|5%2C6;DP=12;ECNT=2;GERMQ=72;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=40;POPAF=7.3;TLOD=40.72;SRC=snv;GRP=s001;CSQ=C|intron_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||6/18|ENST00000327044.7:c.699-176C>G|||||||rs13303206||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||0.9016|0.8374|0.9092|0.9216|0.9453|0.9172||||||||||0.9038|0.8352|0.8816|0.9183|0.9113|0.9255|0.9404|0.9051|0.9337|0.9112|0.9159|0.9453|EUR|||||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,C|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000469563|retained_intron||||||||||rs13303206|3988|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||0.9016|0.8374|0.9092|0.9216|0.9453|0.9172||||||||||0.9038|0.8352|0.8816|0.9183|0.9113|0.9255|0.9404|0.9051|0.9337|0.9112|0.9159|0.9453|EUR|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron|5/17||ENST00000477976.5:n.1970C>G||1970|||||rs13303206||-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.9016|0.8374|0.9092|0.9216|0.9453|0.9172||||||||||0.9038|0.8352|0.8816|0.9183|0.9113|0.9255|0.9404|0.9051|0.9337|0.9112|0.9159|0.9453|EUR|||||||||||||,C|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000487214|protein_coding_CDS_not_defined||||||||||rs13303206|168|-1||SNV|HGNC|HGNC:24517||||3||||||||||||||0.9016|0.8374|0.9092|0.9216|0.9453|0.9172||||||||||0.9038|0.8352|0.8816|0.9183|0.9113|0.9255|0.9404|0.9051|0.9337|0.9112|0.9159|0.9453|EUR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,11:0.893:11:0,1:0,5:0,7:0,0,5,6 -chr1 954333 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|9%2C7;DP=17;ECNT=2;GERMQ=87;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=88;POPAF=7.3;TLOD=56.99;SRC=snv;GRP=s001;CSQ=A|intron_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||6/18|ENST00000327044.7:c.699-251G>T|||||||rs13303051||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||0.8974|0.8245|0.9063|0.9206|0.9463|0.9151||||||||||0.9009|0.8255|0.8835|0.9174|0.911|0.9251|0.9403|0.9051|0.9334|0.909|0.9157|0.9463|EUR|||||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,A|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000469563|retained_intron||||||||||rs13303051|3913|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||0.8974|0.8245|0.9063|0.9206|0.9463|0.9151||||||||||0.9009|0.8255|0.8835|0.9174|0.911|0.9251|0.9403|0.9051|0.9334|0.909|0.9157|0.9463|EUR|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron|5/17||ENST00000477976.5:n.1895G>T||1895|||||rs13303051||-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.8974|0.8245|0.9063|0.9206|0.9463|0.9151||||||||||0.9009|0.8255|0.8835|0.9174|0.911|0.9251|0.9403|0.9051|0.9334|0.909|0.9157|0.9463|EUR|||||||||||||,A|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000487214|protein_coding_CDS_not_defined||||||||||rs13303051|93|-1||SNV|HGNC|HGNC:24517||||3||||||||||||||0.8974|0.8245|0.9063|0.9206|0.9463|0.9151||||||||||0.9009|0.8255|0.8835|0.9174|0.911|0.9251|0.9403|0.9051|0.9334|0.909|0.9157|0.9463|EUR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,16:0.917:16:0,0:0,9:0,10:0,0,9,7 -chr1 954574 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=1;GERMQ=52;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=94;POPAF=7.3;TLOD=15.23;SRC=snv;GRP=s001;CSQ=G|intron_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||6/18|ENST00000327044.7:c.699-492T>C|||||||rs926393717||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C|||||||||||||||||||||||1.972e-05|0|0|0|0.000576|0|0|0|1.47e-05|0|0|0.000576|gnomADg_ASJ|||||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,G|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000469563|retained_intron||||||||||rs926393717|3672|-1||SNV|HGNC|HGNC:24517||||2|||||||||||||||||||||||||||||1.972e-05|0|0|0|0.000576|0|0|0|1.47e-05|0|0|0.000576|gnomADg_ASJ|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron||4/16|ENST00000477976.5:n.1705-51T>C|||||||rs926393717||-1||SNV|HGNC|HGNC:24517||||5|||||||||||||||||||||||||||||1.972e-05|0|0|0|0.000576|0|0|0|1.47e-05|0|0|0.000576|gnomADg_ASJ|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000487214|protein_coding_CDS_not_defined||6/6|ENST00000487214.1:n.768-51T>C|||||||rs926393717||-1||SNV|HGNC|HGNC:24517||||3|||||||||||||||||||||||||||||1.972e-05|0|0|0|0.000576|0|0|0|1.47e-05|0|0|0.000576|gnomADg_ASJ||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 955384 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=6%2C7|1%2C1;DP=17;ECNT=1;GERMQ=55;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=73;POPAF=7.3;TLOD=5.6;SRC=snv;GRP=s001;CSQ=T|intron_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||6/18|ENST00000327044.7:c.698+539G>A|||||||rs961513220||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C|||||||||||||||||||||||1.971e-05|2.412e-05|0|0|0|0|0|0|2.94e-05|0|0|2.94e-05|gnomADg_NFE|||||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,T|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000469563|retained_intron||||||||||rs961513220|2862|-1||SNV|HGNC|HGNC:24517||||2|||||||||||||||||||||||||||||1.971e-05|2.412e-05|0|0|0|0|0|0|2.94e-05|0|0|2.94e-05|gnomADg_NFE|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron||4/16|ENST00000477976.5:n.1704+539G>A|||||||rs961513220||-1||SNV|HGNC|HGNC:24517||||5|||||||||||||||||||||||||||||1.971e-05|2.412e-05|0|0|0|0|0|0|2.94e-05|0|0|2.94e-05|gnomADg_NFE|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000487214|protein_coding_CDS_not_defined||6/6|ENST00000487214.1:n.767+539G>A|||||||rs961513220||-1||SNV|HGNC|HGNC:24517||||3|||||||||||||||||||||||||||||1.971e-05|2.412e-05|0|0|0|0|0|0|2.94e-05|0|0|2.94e-05|gnomADg_NFE||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:13,2:0.182:15:0,0:6,1:8,1:6,7,1,1 -chr1 955641 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C4;DP=9;ECNT=2;GERMQ=63;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=36;POPAF=7.3;TLOD=25.25;SRC=snv;GRP=s001;CSQ=A|intron_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||6/18|ENST00000327044.7:c.698+282C>T|||||||rs13302957||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||0.8291|0.7504|0.8069|0.7768|0.9463|0.8845||||||||||0.8783|0.7697|0.9638|0.8334|0.9179|0.7996|0.9629|0.9241|0.9436|0.8805|0.8793|0.9638|gnomADg_AMI||||29422604|||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,A|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding||||||||||rs13302957|4943|1||SNV|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0||||||||0.8291|0.7504|0.8069|0.7768|0.9463|0.8845||||||||||0.8783|0.7697|0.9638|0.8334|0.9179|0.7996|0.9629|0.9241|0.9436|0.8805|0.8793|0.9638|gnomADg_AMI||||29422604|||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,A|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000469563|retained_intron||||||||||rs13302957|2605|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||0.8291|0.7504|0.8069|0.7768|0.9463|0.8845||||||||||0.8783|0.7697|0.9638|0.8334|0.9179|0.7996|0.9629|0.9241|0.9436|0.8805|0.8793|0.9638|gnomADg_AMI||||29422604|||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron||4/16|ENST00000477976.5:n.1704+282C>T|||||||rs13302957||-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.8291|0.7504|0.8069|0.7768|0.9463|0.8845||||||||||0.8783|0.7697|0.9638|0.8334|0.9179|0.7996|0.9629|0.9241|0.9436|0.8805|0.8793|0.9638|gnomADg_AMI||||29422604|||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000487214|protein_coding_CDS_not_defined||6/6|ENST00000487214.1:n.767+282C>T|||||||rs13302957||-1||SNV|HGNC|HGNC:24517||||3||||||||||||||0.8291|0.7504|0.8069|0.7768|0.9463|0.8845||||||||||0.8783|0.7697|0.9638|0.8334|0.9179|0.7996|0.9629|0.9241|0.9436|0.8805|0.8793|0.9638|gnomADg_AMI||||29422604||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.841:8:0,0:0,4:0,4:0,0,4,4 -chr1 955679 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|2%2C1;DP=5;ECNT=2;GERMQ=37;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=28;POPAF=7.3;TLOD=9.92;SRC=snv;GRP=s001;CSQ=T|intron_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||6/18|ENST00000327044.7:c.698+244G>A|||||||rs13303065||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||0.4533|0.1051|0.4424|0.624|0.6332|0.5706||||||||||0.4937|0.1866|0.5132|0.4884|0.5574|0.6572|0.6285|0.5633|0.6379|0.5249|0.5762|0.6572|gnomADg_EAS|||1|33462484|||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,T|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding||||||||||rs13303065|4905|1||SNV|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0||||||||0.4533|0.1051|0.4424|0.624|0.6332|0.5706||||||||||0.4937|0.1866|0.5132|0.4884|0.5574|0.6572|0.6285|0.5633|0.6379|0.5249|0.5762|0.6572|gnomADg_EAS|||1|33462484|||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,T|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000469563|retained_intron||||||||||rs13303065|2567|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||0.4533|0.1051|0.4424|0.624|0.6332|0.5706||||||||||0.4937|0.1866|0.5132|0.4884|0.5574|0.6572|0.6285|0.5633|0.6379|0.5249|0.5762|0.6572|gnomADg_EAS|||1|33462484|||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron||4/16|ENST00000477976.5:n.1704+244G>A|||||||rs13303065||-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.4533|0.1051|0.4424|0.624|0.6332|0.5706||||||||||0.4937|0.1866|0.5132|0.4884|0.5574|0.6572|0.6285|0.5633|0.6379|0.5249|0.5762|0.6572|gnomADg_EAS|||1|33462484|||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000487214|protein_coding_CDS_not_defined||6/6|ENST00000487214.1:n.767+244G>A|||||||rs13303065||-1||SNV|HGNC|HGNC:24517||||3||||||||||||||0.4533|0.1051|0.4424|0.624|0.6332|0.5706||||||||||0.4937|0.1866|0.5132|0.4884|0.5574|0.6572|0.6285|0.5633|0.6379|0.5249|0.5762|0.6572|gnomADg_EAS|||1|33462484||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,3:0.6:5:0,0:1,2:1,2:1,1,2,1 -chr1 956565 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C2|2%2C2;DP=6;ECNT=1;GERMQ=36;MBQ=31,33;MFRL=0,0;MMQ=60,60;MPOS=38;POPAF=7.3;TLOD=13.13;SRC=snv;GRP=s001;CSQ=G|intron_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||4/18|ENST00000327044.7:c.486+329T>C|||||||rs13303106||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||0.4541|0.1051|0.4424|0.626|0.6332|0.5726||||||||||0.4942|0.1869|0.5132|0.4885|0.5619|0.6588|0.628|0.5633|0.6384|0.5267|0.5786|0.6588|gnomADg_EAS|||||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,G|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding||||||||||rs13303106|4019|1||SNV|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0||||||||0.4541|0.1051|0.4424|0.626|0.6332|0.5726||||||||||0.4942|0.1869|0.5132|0.4885|0.5619|0.6588|0.628|0.5633|0.6384|0.5267|0.5786|0.6588|gnomADg_EAS|||||||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,G|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000463212|retained_intron||||||||||rs13303106|4884|1||SNV|HGNC|HGNC:24023||||1||||||||||||||0.4541|0.1051|0.4424|0.626|0.6332|0.5726||||||||||0.4942|0.1869|0.5132|0.4885|0.5619|0.6588|0.628|0.5633|0.6384|0.5267|0.5786|0.6588|gnomADg_EAS|||||||||||||,G|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000469563|retained_intron||||||||||rs13303106|1681|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||0.4541|0.1051|0.4424|0.626|0.6332|0.5726||||||||||0.4942|0.1869|0.5132|0.4885|0.5619|0.6588|0.628|0.5633|0.6384|0.5267|0.5786|0.6588|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron||2/16|ENST00000477976.5:n.1492+329T>C|||||||rs13303106||-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.4541|0.1051|0.4424|0.626|0.6332|0.5726||||||||||0.4942|0.1869|0.5132|0.4885|0.5619|0.6588|0.628|0.5633|0.6384|0.5267|0.5786|0.6588|gnomADg_EAS|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000487214|protein_coding_CDS_not_defined||4/6|ENST00000487214.1:n.555+329T>C|||||||rs13303106||-1||SNV|HGNC|HGNC:24517||||3||||||||||||||0.4541|0.1051|0.4424|0.626|0.6332|0.5726||||||||||0.4942|0.1869|0.5132|0.4885|0.5619|0.6588|0.628|0.5633|0.6384|0.5267|0.5786|0.6588|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,4:0.572:6:1,1:0,2:2,3:0,2,2,2 -chr1 957365 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|6%2C6;DP=12;ECNT=1;GERMQ=75;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=82;POPAF=7.3;TLOD=42.72;SRC=snv;GRP=s001;CSQ=A|intron_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||2/18|ENST00000327044.7:c.180-92C>T|||||||rs13303227||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||0.9207|0.9002|0.9179|0.9206|0.9533|0.9172||||||||||0.933|0.9051|0.9638|0.9328|0.9274|0.9246|0.9648|0.9304|0.9464|0.9335|0.9218|0.9648|gnomADg_FIN|||||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,A|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding||||||||||rs13303227|3219|1||SNV|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0||||||||0.9207|0.9002|0.9179|0.9206|0.9533|0.9172||||||||||0.933|0.9051|0.9638|0.9328|0.9274|0.9246|0.9648|0.9304|0.9464|0.9335|0.9218|0.9648|gnomADg_FIN|||||||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,A|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000463212|retained_intron||||||||||rs13303227|4084|1||SNV|HGNC|HGNC:24023||||1||||||||||||||0.9207|0.9002|0.9179|0.9206|0.9533|0.9172||||||||||0.933|0.9051|0.9638|0.9328|0.9274|0.9246|0.9648|0.9304|0.9464|0.9335|0.9218|0.9648|gnomADg_FIN|||||||||||||,A|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000469563|retained_intron||||||||||rs13303227|881|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||0.9207|0.9002|0.9179|0.9206|0.9533|0.9172||||||||||0.933|0.9051|0.9638|0.9328|0.9274|0.9246|0.9648|0.9304|0.9464|0.9335|0.9218|0.9648|gnomADg_FIN|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron|1/17||ENST00000477976.5:n.1094C>T||1094|||||rs13303227||-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.9207|0.9002|0.9179|0.9206|0.9533|0.9172||||||||||0.933|0.9051|0.9638|0.9328|0.9274|0.9246|0.9648|0.9304|0.9464|0.9335|0.9218|0.9648|gnomADg_FIN|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000487214|protein_coding_CDS_not_defined||2/6|ENST00000487214.1:n.249-92C>T|||||||rs13303227||-1||SNV|HGNC|HGNC:24517||||3||||||||||||||0.9207|0.9002|0.9179|0.9206|0.9533|0.9172||||||||||0.933|0.9051|0.9638|0.9328|0.9274|0.9246|0.9648|0.9304|0.9464|0.9335|0.9218|0.9648|gnomADg_FIN||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,12:0.889:12:0,1:0,6:0,7:0,0,6,6 -chr1 957900 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|5%2C6;DP=13;ECNT=1;GERMQ=72;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=64;POPAF=7.3;TLOD=39.58;SRC=snv;GRP=s001;CSQ=A|intron_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||2/18|ENST00000327044.7:c.180-627C>T|||||||rs4970371||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||0.9391|0.9667|0.9222|0.9206|0.9543|0.9172||||||||||0.9512|0.9678|0.9637|0.9393|0.9274|0.9252|0.9657|0.9304|0.9469|0.9493|0.9218|0.9678|gnomADg_AFR|||||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,A|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding||||||||||rs4970371|2684|1||SNV|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0||||||||0.9391|0.9667|0.9222|0.9206|0.9543|0.9172||||||||||0.9512|0.9678|0.9637|0.9393|0.9274|0.9252|0.9657|0.9304|0.9469|0.9493|0.9218|0.9678|gnomADg_AFR|||||||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,A|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000463212|retained_intron||||||||||rs4970371|3549|1||SNV|HGNC|HGNC:24023||||1||||||||||||||0.9391|0.9667|0.9222|0.9206|0.9543|0.9172||||||||||0.9512|0.9678|0.9637|0.9393|0.9274|0.9252|0.9657|0.9304|0.9469|0.9493|0.9218|0.9678|gnomADg_AFR|||||||||||||,A|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000466300|nonsense_mediated_decay||||||||||rs4970371|4827|1|cds_start_NF|SNV|HGNC|HGNC:24023||||3|||ENSP00000463694||J3QLT4.45|UPI000268AE1E||||||||0.9391|0.9667|0.9222|0.9206|0.9543|0.9172||||||||||0.9512|0.9678|0.9637|0.9393|0.9274|0.9252|0.9657|0.9304|0.9469|0.9493|0.9218|0.9678|gnomADg_AFR|||||||||||XLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGASPGAWGVAQQWDPLTSPVSTCPPQAAGACLPSTETVRPTTRAPTAGTWWPPCPRAGPGWEWLRWGTGSMLWAAMMGPQTWLPWSPTTP||,A|downstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000469563|retained_intron||||||||||rs4970371|346|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||0.9391|0.9667|0.9222|0.9206|0.9543|0.9172||||||||||0.9512|0.9678|0.9637|0.9393|0.9274|0.9252|0.9657|0.9304|0.9469|0.9493|0.9218|0.9678|gnomADg_AFR|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron|1/17||ENST00000477976.5:n.559C>T||559|||||rs4970371||-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.9391|0.9667|0.9222|0.9206|0.9543|0.9172||||||||||0.9512|0.9678|0.9637|0.9393|0.9274|0.9252|0.9657|0.9304|0.9469|0.9493|0.9218|0.9678|gnomADg_AFR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000487214|protein_coding_CDS_not_defined||2/6|ENST00000487214.1:n.249-627C>T|||||||rs4970371||-1||SNV|HGNC|HGNC:24517||||3||||||||||||||0.9391|0.9667|0.9222|0.9206|0.9543|0.9172||||||||||0.9512|0.9678|0.9637|0.9393|0.9274|0.9252|0.9657|0.9304|0.9469|0.9493|0.9218|0.9678|gnomADg_AFR|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000111|promoter||||||||||rs4970371||||SNV||||||||||||||||||||0.9391|0.9667|0.9222|0.9206|0.9543|0.9172||||||||||0.9512|0.9678|0.9637|0.9393|0.9274|0.9252|0.9657|0.9304|0.9469|0.9493|0.9218|0.9678|gnomADg_AFR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,11:0.88:11:0,0:0,5:0,6:0,0,5,6 -chr1 959193 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=1;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=14;POPAF=7.3;TLOD=10.63;SRC=snv;GRP=s001;CSQ=A|intron_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||1/18|ENST00000327044.7:c.26+22C>T|||||||rs13303010||-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||0.6344|0.1634|0.6974|0.7083|0.9016|0.8753|0.8198|0.2474|0.7665|0.8776|0.7319|0.9013|0.8971|0.8383|0.8675|0.7019|0.2655|0.859|0.7344|0.8755|0.7332|0.9019|0.8165|0.9017|0.7541|0.8654|0.9019|gnomADg_FIN|||1|29422604&32581250&30192808&32321713&33879152&35761384&35506247&26053627&32389710&37346070&36005174&35238112&32958499|||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,A|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding||||||||||rs13303010|1391|1||SNV|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0||||||||0.6344|0.1634|0.6974|0.7083|0.9016|0.8753|0.8198|0.2474|0.7665|0.8776|0.7319|0.9013|0.8971|0.8383|0.8675|0.7019|0.2655|0.859|0.7344|0.8755|0.7332|0.9019|0.8165|0.9017|0.7541|0.8654|0.9019|gnomADg_FIN|||1|29422604&32581250&30192808&32321713&33879152&35761384&35506247&26053627&32389710&37346070&36005174&35238112&32958499|||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,A|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000463212|retained_intron||||||||||rs13303010|2256|1||SNV|HGNC|HGNC:24023||||1||||||||||||||0.6344|0.1634|0.6974|0.7083|0.9016|0.8753|0.8198|0.2474|0.7665|0.8776|0.7319|0.9013|0.8971|0.8383|0.8675|0.7019|0.2655|0.859|0.7344|0.8755|0.7332|0.9019|0.8165|0.9017|0.7541|0.8654|0.9019|gnomADg_FIN|||1|29422604&32581250&30192808&32321713&33879152&35761384&35506247&26053627&32389710&37346070&36005174&35238112&32958499|||||||||,A|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000466300|nonsense_mediated_decay||||||||||rs13303010|3534|1|cds_start_NF|SNV|HGNC|HGNC:24023||||3|||ENSP00000463694||J3QLT4.45|UPI000268AE1E||||||||0.6344|0.1634|0.6974|0.7083|0.9016|0.8753|0.8198|0.2474|0.7665|0.8776|0.7319|0.9013|0.8971|0.8383|0.8675|0.7019|0.2655|0.859|0.7344|0.8755|0.7332|0.9019|0.8165|0.9017|0.7541|0.8654|0.9019|gnomADg_FIN|||1|29422604&32581250&30192808&32321713&33879152&35761384&35506247&26053627&32389710&37346070&36005174&35238112&32958499|||||||XLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGASPGAWGVAQQWDPLTSPVSTCPPQAAGACLPSTETVRPTTRAPTAGTWWPPCPRAGPGWEWLRWGTGSMLWAAMMGPQTWLPWSPTTP||,A|intron_variant&non_coding_transcript_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000469563|retained_intron||1/1|ENST00000469563.1:n.42+22C>T|||||||rs13303010||-1||SNV|HGNC|HGNC:24517||||2||||||||||||||0.6344|0.1634|0.6974|0.7083|0.9016|0.8753|0.8198|0.2474|0.7665|0.8776|0.7319|0.9013|0.8971|0.8383|0.8675|0.7019|0.2655|0.859|0.7344|0.8755|0.7332|0.9019|0.8165|0.9017|0.7541|0.8654|0.9019|gnomADg_FIN|||1|29422604&32581250&30192808&32321713&33879152&35761384&35506247&26053627&32389710&37346070&36005174&35238112&32958499|||||||||,A|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron||||||||||rs13303010|735|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.6344|0.1634|0.6974|0.7083|0.9016|0.8753|0.8198|0.2474|0.7665|0.8776|0.7319|0.9013|0.8971|0.8383|0.8675|0.7019|0.2655|0.859|0.7344|0.8755|0.7332|0.9019|0.8165|0.9017|0.7541|0.8654|0.9019|gnomADg_FIN|||1|29422604&32581250&30192808&32321713&33879152&35761384&35506247&26053627&32389710&37346070&36005174&35238112&32958499|||||||||,A|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000481067|retained_intron||||||||||rs13303010|4359|1||SNV|HGNC|HGNC:24023||||2||||||||||||||0.6344|0.1634|0.6974|0.7083|0.9016|0.8753|0.8198|0.2474|0.7665|0.8776|0.7319|0.9013|0.8971|0.8383|0.8675|0.7019|0.2655|0.859|0.7344|0.8755|0.7332|0.9019|0.8165|0.9017|0.7541|0.8654|0.9019|gnomADg_FIN|||1|29422604&32581250&30192808&32321713&33879152&35761384&35506247&26053627&32389710&37346070&36005174&35238112&32958499|||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000487214|protein_coding_CDS_not_defined||1/6|ENST00000487214.1:n.95+22C>T|||||||rs13303010||-1||SNV|HGNC|HGNC:24517||||3||||||||||||||0.6344|0.1634|0.6974|0.7083|0.9016|0.8753|0.8198|0.2474|0.7665|0.8776|0.7319|0.9013|0.8971|0.8383|0.8675|0.7019|0.2655|0.859|0.7344|0.8755|0.7332|0.9019|0.8165|0.9017|0.7541|0.8654|0.9019|gnomADg_FIN|||1|29422604&32581250&30192808&32321713&33879152&35761384&35506247&26053627&32389710&37346070&36005174&35238112&32958499|||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000111|promoter||||||||||rs13303010||||SNV||||||||||||||||||||0.6344|0.1634|0.6974|0.7083|0.9016|0.8753|0.8198|0.2474|0.7665|0.8776|0.7319|0.9013|0.8971|0.8383|0.8675|0.7019|0.2655|0.859|0.7344|0.8755|0.7332|0.9019|0.8165|0.9017|0.7541|0.8654|0.9019|gnomADg_FIN|||1|29422604&32581250&30192808&32321713&33879152&35761384&35506247&26053627&32389710&37346070&36005174&35238112&32958499||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,0:0,1:0,2:0,0,1,2 -chr1 960891 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=1;GERMQ=49;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=98;POPAF=7.3;TLOD=10.55;SRC=snv;GRP=s001;CSQ=T|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||||||||||rs112905931|1635|-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||0.3778|0.0363|0.4971|0.3611|0.6262|0.5164||||||||||0.4582|0.1194|0.4867|0.5309|0.5407|0.3829|0.595|0.5355|0.6233|0.4908|0.5334|0.6262|EUR|||1|33972514|||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,T|intron_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding||1/11|ENST00000338591.8:c.107+91C>T|||||||rs112905931||1||SNV|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0||||||||0.3778|0.0363|0.4971|0.3611|0.6262|0.5164||||||||||0.4582|0.1194|0.4867|0.5309|0.5407|0.3829|0.595|0.5355|0.6233|0.4908|0.5334|0.6262|EUR|||1|33972514|||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,T|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000463212|retained_intron||||||||||rs112905931|558|1||SNV|HGNC|HGNC:24023||||1||||||||||||||0.3778|0.0363|0.4971|0.3611|0.6262|0.5164||||||||||0.4582|0.1194|0.4867|0.5309|0.5407|0.3829|0.595|0.5355|0.6233|0.4908|0.5334|0.6262|EUR|||1|33972514|||||||||,T|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000466300|nonsense_mediated_decay||||||||||rs112905931|1836|1|cds_start_NF|SNV|HGNC|HGNC:24023||||3|||ENSP00000463694||J3QLT4.45|UPI000268AE1E||||||||0.3778|0.0363|0.4971|0.3611|0.6262|0.5164||||||||||0.4582|0.1194|0.4867|0.5309|0.5407|0.3829|0.595|0.5355|0.6233|0.4908|0.5334|0.6262|EUR|||1|33972514|||||||XLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGASPGAWGVAQQWDPLTSPVSTCPPQAAGACLPSTETVRPTTRAPTAGTWWPPCPRAGPGWEWLRWGTGSMLWAAMMGPQTWLPWSPTTP||,T|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000469563|retained_intron||||||||||rs112905931|1635|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||0.3778|0.0363|0.4971|0.3611|0.6262|0.5164||||||||||0.4582|0.1194|0.4867|0.5309|0.5407|0.3829|0.595|0.5355|0.6233|0.4908|0.5334|0.6262|EUR|||1|33972514|||||||||,T|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron||||||||||rs112905931|2433|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.3778|0.0363|0.4971|0.3611|0.6262|0.5164||||||||||0.4582|0.1194|0.4867|0.5309|0.5407|0.3829|0.595|0.5355|0.6233|0.4908|0.5334|0.6262|EUR|||1|33972514|||||||||,T|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000481067|retained_intron||||||||||rs112905931|2661|1||SNV|HGNC|HGNC:24023||||2||||||||||||||0.3778|0.0363|0.4971|0.3611|0.6262|0.5164||||||||||0.4582|0.1194|0.4867|0.5309|0.5407|0.3829|0.595|0.5355|0.6233|0.4908|0.5334|0.6262|EUR|||1|33972514|||||||||,T|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000487214|protein_coding_CDS_not_defined||||||||||rs112905931|1582|-1||SNV|HGNC|HGNC:24517||||3||||||||||||||0.3778|0.0363|0.4971|0.3611|0.6262|0.5164||||||||||0.4582|0.1194|0.4867|0.5309|0.5407|0.3829|0.595|0.5355|0.6233|0.4908|0.5334|0.6262|EUR|||1|33972514|||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000111|promoter||||||||||rs112905931||||SNV||||||||||||||||||||0.3778|0.0363|0.4971|0.3611|0.6262|0.5164||||||||||0.4582|0.1194|0.4867|0.5309|0.5407|0.3829|0.595|0.5355|0.6233|0.4908|0.5334|0.6262|EUR|||1|33972514||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,1:0,1:0,2:0,0,1,2 -chr1 961096 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C4;DP=8;ECNT=1;GERMQ=60;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=87;POPAF=7.3;TLOD=24.13;SRC=snv;GRP=s001;CSQ=G|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||||||||||rs28393498|1840|-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||0.9221|0.9024|0.9179|0.9256|0.9523|0.9172||||||||||0.9341|0.9068|0.9638|0.933|0.9278|0.9263|0.9655|0.9299|0.9476|0.9351|0.9221|0.9655|gnomADg_FIN|||||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,G|intron_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding||1/11|ENST00000338591.8:c.108-197A>G|||||||rs28393498||1||SNV|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0||||||||0.9221|0.9024|0.9179|0.9256|0.9523|0.9172||||||||||0.9341|0.9068|0.9638|0.933|0.9278|0.9263|0.9655|0.9299|0.9476|0.9351|0.9221|0.9655|gnomADg_FIN|||||||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,G|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000463212|retained_intron||||||||||rs28393498|353|1||SNV|HGNC|HGNC:24023||||1||||||||||||||0.9221|0.9024|0.9179|0.9256|0.9523|0.9172||||||||||0.9341|0.9068|0.9638|0.933|0.9278|0.9263|0.9655|0.9299|0.9476|0.9351|0.9221|0.9655|gnomADg_FIN|||||||||||||,G|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000466300|nonsense_mediated_decay||||||||||rs28393498|1631|1|cds_start_NF|SNV|HGNC|HGNC:24023||||3|||ENSP00000463694||J3QLT4.45|UPI000268AE1E||||||||0.9221|0.9024|0.9179|0.9256|0.9523|0.9172||||||||||0.9341|0.9068|0.9638|0.933|0.9278|0.9263|0.9655|0.9299|0.9476|0.9351|0.9221|0.9655|gnomADg_FIN|||||||||||XLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGASPGAWGVAQQWDPLTSPVSTCPPQAAGACLPSTETVRPTTRAPTAGTWWPPCPRAGPGWEWLRWGTGSMLWAAMMGPQTWLPWSPTTP||,G|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000469563|retained_intron||||||||||rs28393498|1840|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||0.9221|0.9024|0.9179|0.9256|0.9523|0.9172||||||||||0.9341|0.9068|0.9638|0.933|0.9278|0.9263|0.9655|0.9299|0.9476|0.9351|0.9221|0.9655|gnomADg_FIN|||||||||||||,G|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron||||||||||rs28393498|2638|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.9221|0.9024|0.9179|0.9256|0.9523|0.9172||||||||||0.9341|0.9068|0.9638|0.933|0.9278|0.9263|0.9655|0.9299|0.9476|0.9351|0.9221|0.9655|gnomADg_FIN|||||||||||||,G|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000481067|retained_intron||||||||||rs28393498|2456|1||SNV|HGNC|HGNC:24023||||2||||||||||||||0.9221|0.9024|0.9179|0.9256|0.9523|0.9172||||||||||0.9341|0.9068|0.9638|0.933|0.9278|0.9263|0.9655|0.9299|0.9476|0.9351|0.9221|0.9655|gnomADg_FIN|||||||||||||,G|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000487214|protein_coding_CDS_not_defined||||||||||rs28393498|1787|-1||SNV|HGNC|HGNC:24517||||3||||||||||||||0.9221|0.9024|0.9179|0.9256|0.9523|0.9172||||||||||0.9341|0.9068|0.9638|0.933|0.9278|0.9263|0.9655|0.9299|0.9476|0.9351|0.9221|0.9655|gnomADg_FIN|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000111|promoter||||||||||rs28393498||||SNV||||||||||||||||||||0.9221|0.9024|0.9179|0.9256|0.9523|0.9172||||||||||0.9341|0.9068|0.9638|0.933|0.9278|0.9263|0.9655|0.9299|0.9476|0.9351|0.9221|0.9655|gnomADg_FIN||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,7:0.864:7:0,1:0,3:0,5:0,0,3,4 -chr1 961945 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|11%2C14;DP=26;ECNT=2;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=81;POPAF=7.3;TLOD=95.02;SRC=snv;GRP=s001;CSQ=C|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||||||||||rs4970441&COSV58532012|2689|-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||0.8592|0.6959|0.8847|0.9157|0.9433|0.9172|0.9127|0.7143|0.937|0.9166|0.9061|0.9374|0.9286|0.9134|0.9168|0.8693|0.7168|0.8855|0.9003|0.9122|0.9206|0.9404|0.9082|0.9335|0.8865|0.9199|0.9433|EUR||0&1|0&1||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,C|synonymous_variant|LOW|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding|4/12||ENST00000338591.8:c.609G>C|ENSP00000343930.3:p.Ala203%3D|719|609|203|A|gcG/gcC|rs4970441&COSV58532012||1||SNV|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0||||||||0.8592|0.6959|0.8847|0.9157|0.9433|0.9172|0.9127|0.7143|0.937|0.9166|0.9061|0.9374|0.9286|0.9134|0.9168|0.8693|0.7168|0.8855|0.9003|0.9122|0.9206|0.9404|0.9082|0.9335|0.8865|0.9199|0.9433|EUR||0&1|0&1||||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,C|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding||||||||||rs4970441&COSV58532012|4557|1||SNV|HGNC|HGNC:25284||||1|A2|CCDS53256.1|ENSP00000368717|Q494U1.135||UPI00005764FF|Q494U1-3|||||||0.8592|0.6959|0.8847|0.9157|0.9433|0.9172|0.9127|0.7143|0.937|0.9166|0.9061|0.9374|0.9286|0.9134|0.9168|0.8693|0.7168|0.8855|0.9003|0.9122|0.9206|0.9404|0.9082|0.9335|0.8865|0.9199|0.9433|EUR||0&1|0&1||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding||||||||||rs4970441&COSV58532012|4557|1||SNV|HGNC|HGNC:25284||||2|A2|CCDS90835.1|ENSP00000368719|Q494U1.135||UPI0000D61E06|Q494U1-2|||||||0.8592|0.6959|0.8847|0.9157|0.9433|0.9172|0.9127|0.7143|0.937|0.9166|0.9061|0.9374|0.9286|0.9134|0.9168|0.8693|0.7168|0.8855|0.9003|0.9122|0.9206|0.9404|0.9082|0.9335|0.8865|0.9199|0.9433|EUR||0&1|0&1||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGVWDASRAPRGTPDPGLGEGPALWLRSTCVYVCALSALPAGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding||||||||||rs4970441&COSV58532012|4537|1||SNV|HGNC|HGNC:25284|YES|NM_032129.3||1|P4|CCDS4.1|ENSP00000368720|Q494U1.135||UPI00001416D8|Q494U1-1|||||||0.8592|0.6959|0.8847|0.9157|0.9433|0.9172|0.9127|0.7143|0.937|0.9166|0.9061|0.9374|0.9286|0.9134|0.9168|0.8693|0.7168|0.8855|0.9003|0.9122|0.9206|0.9404|0.9082|0.9335|0.8865|0.9199|0.9433|EUR||0&1|0&1||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|non_coding_transcript_exon_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000463212|retained_intron|2/2||ENST00000463212.1:n.422G>C||422|||||rs4970441&COSV58532012||1||SNV|HGNC|HGNC:24023||||1||||||||||||||0.8592|0.6959|0.8847|0.9157|0.9433|0.9172|0.9127|0.7143|0.937|0.9166|0.9061|0.9374|0.9286|0.9134|0.9168|0.8693|0.7168|0.8855|0.9003|0.9122|0.9206|0.9404|0.9082|0.9335|0.8865|0.9199|0.9433|EUR||0&1|0&1||||||||||,C|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000466300|nonsense_mediated_decay||||||||||rs4970441&COSV58532012|782|1|cds_start_NF|SNV|HGNC|HGNC:24023||||3|||ENSP00000463694||J3QLT4.45|UPI000268AE1E||||||||0.8592|0.6959|0.8847|0.9157|0.9433|0.9172|0.9127|0.7143|0.937|0.9166|0.9061|0.9374|0.9286|0.9134|0.9168|0.8693|0.7168|0.8855|0.9003|0.9122|0.9206|0.9404|0.9082|0.9335|0.8865|0.9199|0.9433|EUR||0&1|0&1||||||||XLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGASPGAWGVAQQWDPLTSPVSTCPPQAAGACLPSTETVRPTTRAPTAGTWWPPCPRAGPGWEWLRWGTGSMLWAAMMGPQTWLPWSPTTP||,C|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000469563|retained_intron||||||||||rs4970441&COSV58532012|2689|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||0.8592|0.6959|0.8847|0.9157|0.9433|0.9172|0.9127|0.7143|0.937|0.9166|0.9061|0.9374|0.9286|0.9134|0.9168|0.8693|0.7168|0.8855|0.9003|0.9122|0.9206|0.9404|0.9082|0.9335|0.8865|0.9199|0.9433|EUR||0&1|0&1||||||||||,C|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron||||||||||rs4970441&COSV58532012|3487|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.8592|0.6959|0.8847|0.9157|0.9433|0.9172|0.9127|0.7143|0.937|0.9166|0.9061|0.9374|0.9286|0.9134|0.9168|0.8693|0.7168|0.8855|0.9003|0.9122|0.9206|0.9404|0.9082|0.9335|0.8865|0.9199|0.9433|EUR||0&1|0&1||||||||||,C|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000481067|retained_intron||||||||||rs4970441&COSV58532012|1607|1||SNV|HGNC|HGNC:24023||||2||||||||||||||0.8592|0.6959|0.8847|0.9157|0.9433|0.9172|0.9127|0.7143|0.937|0.9166|0.9061|0.9374|0.9286|0.9134|0.9168|0.8693|0.7168|0.8855|0.9003|0.9122|0.9206|0.9404|0.9082|0.9335|0.8865|0.9199|0.9433|EUR||0&1|0&1||||||||||,C|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000487214|protein_coding_CDS_not_defined||||||||||rs4970441&COSV58532012|2636|-1||SNV|HGNC|HGNC:24517||||3||||||||||||||0.8592|0.6959|0.8847|0.9157|0.9433|0.9172|0.9127|0.7143|0.937|0.9166|0.9061|0.9374|0.9286|0.9134|0.9168|0.8693|0.7168|0.8855|0.9003|0.9122|0.9206|0.9404|0.9082|0.9335|0.8865|0.9199|0.9433|EUR||0&1|0&1||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000111|promoter||||||||||rs4970441&COSV58532012||||SNV||||||||||||||||||||0.8592|0.6959|0.8847|0.9157|0.9433|0.9172|0.9127|0.7143|0.937|0.9166|0.9061|0.9374|0.9286|0.9134|0.9168|0.8693|0.7168|0.8855|0.9003|0.9122|0.9206|0.9404|0.9082|0.9335|0.8865|0.9199|0.9433|EUR||0&1|0&1|||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,25:0.941:25:0,3:0,11:0,15:0,0,11,14 -chr1 962001 . T A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5%2C7|1%2C1;DP=14;ECNT=2;GERMQ=53;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=134;POPAF=7.3;TLOD=5.5;SRC=snv;GRP=s001;CSQ=A|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding|||||||||||2745|-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||||||||||||||||||||||||||||||||||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,A|missense_variant|MODERATE|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding|4/12||ENST00000338591.8:c.665T>A|ENSP00000343930.3:p.Val222Glu|775|665|222|V/E|gTg/gAg|||1||SNV|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0|||tolerated(0.62)|benign(0.255)||||||||||||||||||||||||||||||||||||||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,A|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding|||||||||||4501|1||SNV|HGNC|HGNC:25284||||1|A2|CCDS53256.1|ENSP00000368717|Q494U1.135||UPI00005764FF|Q494U1-3|||||||||||||||||||||||||||||||||||||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,A|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding|||||||||||4501|1||SNV|HGNC|HGNC:25284||||2|A2|CCDS90835.1|ENSP00000368719|Q494U1.135||UPI0000D61E06|Q494U1-2|||||||||||||||||||||||||||||||||||||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGVWDASRAPRGTPDPGLGEGPALWLRSTCVYVCALSALPAGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,A|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding|||||||||||4481|1||SNV|HGNC|HGNC:25284|YES|NM_032129.3||1|P4|CCDS4.1|ENSP00000368720|Q494U1.135||UPI00001416D8|Q494U1-1|||||||||||||||||||||||||||||||||||||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,A|non_coding_transcript_exon_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000463212|retained_intron|2/2||ENST00000463212.1:n.478T>A||478|||||||1||SNV|HGNC|HGNC:24023||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000466300|nonsense_mediated_decay|||||||||||726|1|cds_start_NF|SNV|HGNC|HGNC:24023||||3|||ENSP00000463694||J3QLT4.45|UPI000268AE1E||||||||||||||||||||||||||||||||||||||||||||||XLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGASPGAWGVAQQWDPLTSPVSTCPPQAAGACLPSTETVRPTTRAPTAGTWWPPCPRAGPGWEWLRWGTGSMLWAAMMGPQTWLPWSPTTP||,A|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000469563|retained_intron|||||||||||2745|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron|||||||||||3543|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000481067|retained_intron|||||||||||1551|1||SNV|HGNC|HGNC:24023||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000487214|protein_coding_CDS_not_defined|||||||||||2692|-1||SNV|HGNC|HGNC:24517||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000111|promoter||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:12,2:0.2:14:0,0:5,1:7,1:5,7,1,1 -chr1 962184 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|5%2C3;DP=10;ECNT=1;GERMQ=63;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=27;POPAF=7.3;TLOD=29.35;SRC=snv;GRP=s001;CSQ=C|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||||||||||rs13303229&COSV58530775|2928|-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||0.9000|0.8298|0.9078|0.9196|0.9503|0.9172|0.9248|0.8207|0.9453|0.9158|0.9135|0.9372|0.9329|0.9223|0.9164|0.9031|0.8284|0.8833|0.9192|0.9124|0.924|0.9404|0.9114|0.9356|0.9148|0.9202|0.9503|EUR||0&1|0&1||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,C|intron_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding||4/11|ENST00000338591.8:c.711+137T>C|||||||rs13303229&COSV58530775||1||SNV|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0||||||||0.9000|0.8298|0.9078|0.9196|0.9503|0.9172|0.9248|0.8207|0.9453|0.9158|0.9135|0.9372|0.9329|0.9223|0.9164|0.9031|0.8284|0.8833|0.9192|0.9124|0.924|0.9404|0.9114|0.9356|0.9148|0.9202|0.9503|EUR||0&1|0&1||||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,C|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding||||||||||rs13303229&COSV58530775|4318|1||SNV|HGNC|HGNC:25284||||1|A2|CCDS53256.1|ENSP00000368717|Q494U1.135||UPI00005764FF|Q494U1-3|||||||0.9000|0.8298|0.9078|0.9196|0.9503|0.9172|0.9248|0.8207|0.9453|0.9158|0.9135|0.9372|0.9329|0.9223|0.9164|0.9031|0.8284|0.8833|0.9192|0.9124|0.924|0.9404|0.9114|0.9356|0.9148|0.9202|0.9503|EUR||0&1|0&1||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding||||||||||rs13303229&COSV58530775|4318|1||SNV|HGNC|HGNC:25284||||2|A2|CCDS90835.1|ENSP00000368719|Q494U1.135||UPI0000D61E06|Q494U1-2|||||||0.9000|0.8298|0.9078|0.9196|0.9503|0.9172|0.9248|0.8207|0.9453|0.9158|0.9135|0.9372|0.9329|0.9223|0.9164|0.9031|0.8284|0.8833|0.9192|0.9124|0.924|0.9404|0.9114|0.9356|0.9148|0.9202|0.9503|EUR||0&1|0&1||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGVWDASRAPRGTPDPGLGEGPALWLRSTCVYVCALSALPAGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding||||||||||rs13303229&COSV58530775|4298|1||SNV|HGNC|HGNC:25284|YES|NM_032129.3||1|P4|CCDS4.1|ENSP00000368720|Q494U1.135||UPI00001416D8|Q494U1-1|||||||0.9000|0.8298|0.9078|0.9196|0.9503|0.9172|0.9248|0.8207|0.9453|0.9158|0.9135|0.9372|0.9329|0.9223|0.9164|0.9031|0.8284|0.8833|0.9192|0.9124|0.924|0.9404|0.9114|0.9356|0.9148|0.9202|0.9503|EUR||0&1|0&1||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|non_coding_transcript_exon_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000463212|retained_intron|2/2||ENST00000463212.1:n.661T>C||661|||||rs13303229&COSV58530775||1||SNV|HGNC|HGNC:24023||||1||||||||||||||0.9000|0.8298|0.9078|0.9196|0.9503|0.9172|0.9248|0.8207|0.9453|0.9158|0.9135|0.9372|0.9329|0.9223|0.9164|0.9031|0.8284|0.8833|0.9192|0.9124|0.924|0.9404|0.9114|0.9356|0.9148|0.9202|0.9503|EUR||0&1|0&1||||||||||,C|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000466300|nonsense_mediated_decay||||||||||rs13303229&COSV58530775|543|1|cds_start_NF|SNV|HGNC|HGNC:24023||||3|||ENSP00000463694||J3QLT4.45|UPI000268AE1E||||||||0.9000|0.8298|0.9078|0.9196|0.9503|0.9172|0.9248|0.8207|0.9453|0.9158|0.9135|0.9372|0.9329|0.9223|0.9164|0.9031|0.8284|0.8833|0.9192|0.9124|0.924|0.9404|0.9114|0.9356|0.9148|0.9202|0.9503|EUR||0&1|0&1||||||||XLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGASPGAWGVAQQWDPLTSPVSTCPPQAAGACLPSTETVRPTTRAPTAGTWWPPCPRAGPGWEWLRWGTGSMLWAAMMGPQTWLPWSPTTP||,C|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000469563|retained_intron||||||||||rs13303229&COSV58530775|2928|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||0.9000|0.8298|0.9078|0.9196|0.9503|0.9172|0.9248|0.8207|0.9453|0.9158|0.9135|0.9372|0.9329|0.9223|0.9164|0.9031|0.8284|0.8833|0.9192|0.9124|0.924|0.9404|0.9114|0.9356|0.9148|0.9202|0.9503|EUR||0&1|0&1||||||||||,C|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron||||||||||rs13303229&COSV58530775|3726|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.9000|0.8298|0.9078|0.9196|0.9503|0.9172|0.9248|0.8207|0.9453|0.9158|0.9135|0.9372|0.9329|0.9223|0.9164|0.9031|0.8284|0.8833|0.9192|0.9124|0.924|0.9404|0.9114|0.9356|0.9148|0.9202|0.9503|EUR||0&1|0&1||||||||||,C|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000481067|retained_intron||||||||||rs13303229&COSV58530775|1368|1||SNV|HGNC|HGNC:24023||||2||||||||||||||0.9000|0.8298|0.9078|0.9196|0.9503|0.9172|0.9248|0.8207|0.9453|0.9158|0.9135|0.9372|0.9329|0.9223|0.9164|0.9031|0.8284|0.8833|0.9192|0.9124|0.924|0.9404|0.9114|0.9356|0.9148|0.9202|0.9503|EUR||0&1|0&1||||||||||,C|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000487214|protein_coding_CDS_not_defined||||||||||rs13303229&COSV58530775|2875|-1||SNV|HGNC|HGNC:24517||||3||||||||||||||0.9000|0.8298|0.9078|0.9196|0.9503|0.9172|0.9248|0.8207|0.9453|0.9158|0.9135|0.9372|0.9329|0.9223|0.9164|0.9031|0.8284|0.8833|0.9192|0.9124|0.924|0.9404|0.9114|0.9356|0.9148|0.9202|0.9503|EUR||0&1|0&1|||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.864:8:0,0:0,5:0,5:0,0,5,3 -chr1 962943 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=81;POPAF=7.3;TLOD=7.35;SRC=snv;GRP=s001;CSQ=C|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||||||||||rs6605071|3687|-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C||||||||0.9269|0.9266|0.9078|0.9206|0.9493|0.9243|0.94|0.9218|0.9554|0.9621|0.9126|0.9589|0.9418|0.9393|0.9298|0.9371|0.9219|0.9638|0.9291|0.9608|0.9241|0.965|0.9494|0.9437|0.9388|0.9292|0.965|gnomADg_FIN|||||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,C|intron_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding||6/11|ENST00000338591.8:c.1042+26T>C|||||||rs6605071||1||SNV|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0||||||||0.9269|0.9266|0.9078|0.9206|0.9493|0.9243|0.94|0.9218|0.9554|0.9621|0.9126|0.9589|0.9418|0.9393|0.9298|0.9371|0.9219|0.9638|0.9291|0.9608|0.9241|0.965|0.9494|0.9437|0.9388|0.9292|0.965|gnomADg_FIN|||||||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,C|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding||||||||||rs6605071|3559|1||SNV|HGNC|HGNC:25284||||1|A2|CCDS53256.1|ENSP00000368717|Q494U1.135||UPI00005764FF|Q494U1-3|||||||0.9269|0.9266|0.9078|0.9206|0.9493|0.9243|0.94|0.9218|0.9554|0.9621|0.9126|0.9589|0.9418|0.9393|0.9298|0.9371|0.9219|0.9638|0.9291|0.9608|0.9241|0.965|0.9494|0.9437|0.9388|0.9292|0.965|gnomADg_FIN|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding||||||||||rs6605071|3559|1||SNV|HGNC|HGNC:25284||||2|A2|CCDS90835.1|ENSP00000368719|Q494U1.135||UPI0000D61E06|Q494U1-2|||||||0.9269|0.9266|0.9078|0.9206|0.9493|0.9243|0.94|0.9218|0.9554|0.9621|0.9126|0.9589|0.9418|0.9393|0.9298|0.9371|0.9219|0.9638|0.9291|0.9608|0.9241|0.965|0.9494|0.9437|0.9388|0.9292|0.965|gnomADg_FIN|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGVWDASRAPRGTPDPGLGEGPALWLRSTCVYVCALSALPAGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding||||||||||rs6605071|3539|1||SNV|HGNC|HGNC:25284|YES|NM_032129.3||1|P4|CCDS4.1|ENSP00000368720|Q494U1.135||UPI00001416D8|Q494U1-1|||||||0.9269|0.9266|0.9078|0.9206|0.9493|0.9243|0.94|0.9218|0.9554|0.9621|0.9126|0.9589|0.9418|0.9393|0.9298|0.9371|0.9219|0.9638|0.9291|0.9608|0.9241|0.965|0.9494|0.9437|0.9388|0.9292|0.965|gnomADg_FIN|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000463212|retained_intron||||||||||rs6605071|465|1||SNV|HGNC|HGNC:24023||||1||||||||||||||0.9269|0.9266|0.9078|0.9206|0.9493|0.9243|0.94|0.9218|0.9554|0.9621|0.9126|0.9589|0.9418|0.9393|0.9298|0.9371|0.9219|0.9638|0.9291|0.9608|0.9241|0.965|0.9494|0.9437|0.9388|0.9292|0.965|gnomADg_FIN|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000466300|nonsense_mediated_decay||1/5|ENST00000466300.1:c.191+26T>C|||||||rs6605071||1|cds_start_NF|SNV|HGNC|HGNC:24023||||3|||ENSP00000463694||J3QLT4.45|UPI000268AE1E||||||||0.9269|0.9266|0.9078|0.9206|0.9493|0.9243|0.94|0.9218|0.9554|0.9621|0.9126|0.9589|0.9418|0.9393|0.9298|0.9371|0.9219|0.9638|0.9291|0.9608|0.9241|0.965|0.9494|0.9437|0.9388|0.9292|0.965|gnomADg_FIN|||||||||||XLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGASPGAWGVAQQWDPLTSPVSTCPPQAAGACLPSTETVRPTTRAPTAGTWWPPCPRAGPGWEWLRWGTGSMLWAAMMGPQTWLPWSPTTP||,C|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000469563|retained_intron||||||||||rs6605071|3687|-1||SNV|HGNC|HGNC:24517||||2||||||||||||||0.9269|0.9266|0.9078|0.9206|0.9493|0.9243|0.94|0.9218|0.9554|0.9621|0.9126|0.9589|0.9418|0.9393|0.9298|0.9371|0.9219|0.9638|0.9291|0.9608|0.9241|0.965|0.9494|0.9437|0.9388|0.9292|0.965|gnomADg_FIN|||||||||||||,C|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000477976|retained_intron||||||||||rs6605071|4485|-1||SNV|HGNC|HGNC:24517||||5||||||||||||||0.9269|0.9266|0.9078|0.9206|0.9493|0.9243|0.94|0.9218|0.9554|0.9621|0.9126|0.9589|0.9418|0.9393|0.9298|0.9371|0.9219|0.9638|0.9291|0.9608|0.9241|0.965|0.9494|0.9437|0.9388|0.9292|0.965|gnomADg_FIN|||||||||||||,C|upstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000481067|retained_intron||||||||||rs6605071|609|1||SNV|HGNC|HGNC:24023||||2||||||||||||||0.9269|0.9266|0.9078|0.9206|0.9493|0.9243|0.94|0.9218|0.9554|0.9621|0.9126|0.9589|0.9418|0.9393|0.9298|0.9371|0.9219|0.9638|0.9291|0.9608|0.9241|0.965|0.9494|0.9437|0.9388|0.9292|0.965|gnomADg_FIN|||||||||||||,C|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000487214|protein_coding_CDS_not_defined||||||||||rs6605071|3634|-1||SNV|HGNC|HGNC:24517||||3||||||||||||||0.9269|0.9266|0.9078|0.9206|0.9493|0.9243|0.94|0.9218|0.9554|0.9621|0.9126|0.9589|0.9418|0.9393|0.9298|0.9371|0.9219|0.9638|0.9291|0.9608|0.9241|0.965|0.9494|0.9437|0.9388|0.9292|0.965|gnomADg_FIN||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 964218 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C1|1%2C1;DP=5;ECNT=1;GERMQ=38;MBQ=35,30;MFRL=0,0;MMQ=60,60;MPOS=90;POPAF=7.3;TLOD=5.45;SRC=snv;GRP=s001;CSQ=G|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000327044|protein_coding||||||||||COSV100498232|4962|-1||SNV|HGNC|HGNC:24517|YES|NM_015658.4||1|P1|CCDS3.1|ENSP00000317992|Q9Y3T9.191||UPI000041820C|||||||||||||||||||||||||||||||||||||1|1||||||||MAAAGSRKRRLAELTVDEFLASGFDSESESESENSPQAETREAREAARSPDKPGGSPSASRRKGRASEHKDQLSRLKDRDPEFYKFLQENDQSLLNFSDSDSSEEEEGPFHSLPDVLEEASEEEDGAEEGEDGDRVPRGLKGKKNSVPVTVAMVERWKQAAKQRLTPKLFHEVVQAFRAAVATTRGDQESAEANKFQVTDSAAFNALVTFCIRDLIGCLQKLLFGKVAKDSSRMLQPSSSPLWGKLRVDIKAYLGSAIQLVSCLSETTVLAAVLRHISVLVPCFLTFPKQCRMLLKRMVIVWSTGEESLRVLAFLVLSRVCRHKKDTFLGPVLKQMYITYVRNCKFTSPGALPFISFMQWTLTELLALEPGVAYQHAFLYIRQLAIHLRNAMTTRKKETYQSVYNWQYVHCLFLWCRVLSTAGPSEALQPLVYPLAQVIIGCIKLIPTARFYPLRMHCIRALTLLSGSSGAFIPVLPFILEMFQQVDFNRKPGRMSSKPINFSVILKLSNVNLQEKAYRDGLVEQLYDLTLEYLHSQAHCIGFPELVLPVVLQLKSFLRECKVANYCRQVQQLLGKVQENSAYICSRRQRVSFGVSEQQAVEAWEKLTREEGTPLTLYYSHWRKLRDREIQLEISGKERLEDLNFPEIKRRKMADRKDEDRKQFKDLFDLNSSEEDDTEGFSERGILRPLSTRHGVEDDEEDEEEGEEDSSNSEDGDPDAEAGLAPGELQQLAQGPEDELEDLQLSEDD||,G|intron_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding||10/11|ENST00000338591.8:c.1518+38C>G|||||||COSV100498232||1||SNV|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0|||||||||||||||||||||||||||||||||||||1|1||||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,G|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding||||||||||COSV100498232|2284|1||SNV|HGNC|HGNC:25284||||1|A2|CCDS53256.1|ENSP00000368717|Q494U1.135||UPI00005764FF|Q494U1-3||||||||||||||||||||||||||||||||||||1|1||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,G|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding||||||||||COSV100498232|2284|1||SNV|HGNC|HGNC:25284||||2|A2|CCDS90835.1|ENSP00000368719|Q494U1.135||UPI0000D61E06|Q494U1-2||||||||||||||||||||||||||||||||||||1|1||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGVWDASRAPRGTPDPGLGEGPALWLRSTCVYVCALSALPAGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,G|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding||||||||||COSV100498232|2264|1||SNV|HGNC|HGNC:25284|YES|NM_032129.3||1|P4|CCDS4.1|ENSP00000368720|Q494U1.135||UPI00001416D8|Q494U1-1||||||||||||||||||||||||||||||||||||1|1||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,G|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000463212|retained_intron||||||||||COSV100498232|1740|1||SNV|HGNC|HGNC:24023||||1|||||||||||||||||||||||||||||||||||||||||||1|1||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000466300|nonsense_mediated_decay||5/5|ENST00000466300.1:c.*268+51C>G|||||||COSV100498232||1|cds_start_NF|SNV|HGNC|HGNC:24023||||3|||ENSP00000463694||J3QLT4.45|UPI000268AE1E|||||||||||||||||||||||||||||||||||||1|1||||||||XLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGASPGAWGVAQQWDPLTSPVSTCPPQAAGACLPSTETVRPTTRAPTAGTWWPPCPRAGPGWEWLRWGTGSMLWAAMMGPQTWLPWSPTTP||,G|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000469563|retained_intron||||||||||COSV100498232|4962|-1||SNV|HGNC|HGNC:24517||||2|||||||||||||||||||||||||||||||||||||||||||1|1||||||||||,G|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000481067|retained_intron||||||||||COSV100498232|54|1||SNV|HGNC|HGNC:24023||||2|||||||||||||||||||||||||||||||||||||||||||1|1||||||||||,G|upstream_gene_variant|MODIFIER|NOC2L|ENSG00000188976|Transcript|ENST00000487214|protein_coding_CDS_not_defined||||||||||COSV100498232|4909|-1||SNV|HGNC|HGNC:24517||||3|||||||||||||||||||||||||||||||||||||||||||1|1|||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,2:0.4:5:0,0:2,1:2,1:2,1,1,1 -chr1 965125 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=7%2C6|9%2C8;DP=30;ECNT=1;GERMQ=34;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=72;POPAF=7.3;TLOD=58.41;SRC=snv;GRP=s001;CSQ=C|synonymous_variant|LOW|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding|12/12||ENST00000338591.8:c.1863G>C|ENSP00000343930.3:p.Val621%3D|1973|1863|621|V|gtG/gtC|rs28705211&COSV58531879||1||SNV|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0|||||PDB-ENSP_mappings:6hrl.A&PDB-ENSP_mappings:6hrl.B|||0.1687|0.0174|0.2017|0.0913|0.2903|0.3047|0.2411|0.04454|0.1989|0.3418|0.08084|0.2774|0.2749|0.2628|0.3016|0.2002|0.04827|0.3443|0.1872|0.3219|0.08066|0.2759|0.2468|0.278|0.2137|0.287|0.3443|gnomADg_AMI||0&1|0&1|20637081|||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,C|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding||||||||||rs28705211&COSV58531879|1377|1||SNV|HGNC|HGNC:25284||||1|A2|CCDS53256.1|ENSP00000368717|Q494U1.135||UPI00005764FF|Q494U1-3|||||||0.1687|0.0174|0.2017|0.0913|0.2903|0.3047|0.2411|0.04454|0.1989|0.3418|0.08084|0.2774|0.2749|0.2628|0.3016|0.2002|0.04827|0.3443|0.1872|0.3219|0.08066|0.2759|0.2468|0.278|0.2137|0.287|0.3443|gnomADg_AMI||0&1|0&1|20637081|||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding||||||||||rs28705211&COSV58531879|1377|1||SNV|HGNC|HGNC:25284||||2|A2|CCDS90835.1|ENSP00000368719|Q494U1.135||UPI0000D61E06|Q494U1-2|||||||0.1687|0.0174|0.2017|0.0913|0.2903|0.3047|0.2411|0.04454|0.1989|0.3418|0.08084|0.2774|0.2749|0.2628|0.3016|0.2002|0.04827|0.3443|0.1872|0.3219|0.08066|0.2759|0.2468|0.278|0.2137|0.287|0.3443|gnomADg_AMI||0&1|0&1|20637081|||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGVWDASRAPRGTPDPGLGEGPALWLRSTCVYVCALSALPAGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding||||||||||rs28705211&COSV58531879|1357|1||SNV|HGNC|HGNC:25284|YES|NM_032129.3||1|P4|CCDS4.1|ENSP00000368720|Q494U1.135||UPI00001416D8|Q494U1-1|||||||0.1687|0.0174|0.2017|0.0913|0.2903|0.3047|0.2411|0.04454|0.1989|0.3418|0.08084|0.2774|0.2749|0.2628|0.3016|0.2002|0.04827|0.3443|0.1872|0.3219|0.08066|0.2759|0.2468|0.278|0.2137|0.287|0.3443|gnomADg_AMI||0&1|0&1|20637081|||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000463212|retained_intron||||||||||rs28705211&COSV58531879|2647|1||SNV|HGNC|HGNC:24023||||1||||||||||||||0.1687|0.0174|0.2017|0.0913|0.2903|0.3047|0.2411|0.04454|0.1989|0.3418|0.08084|0.2774|0.2749|0.2628|0.3016|0.2002|0.04827|0.3443|0.1872|0.3219|0.08066|0.2759|0.2468|0.278|0.2137|0.287|0.3443|gnomADg_AMI||0&1|0&1|20637081|||||||||,C|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000466300|nonsense_mediated_decay||||||||||rs28705211&COSV58531879|595|1|cds_start_NF|SNV|HGNC|HGNC:24023||||3|||ENSP00000463694||J3QLT4.45|UPI000268AE1E||||||||0.1687|0.0174|0.2017|0.0913|0.2903|0.3047|0.2411|0.04454|0.1989|0.3418|0.08084|0.2774|0.2749|0.2628|0.3016|0.2002|0.04827|0.3443|0.1872|0.3219|0.08066|0.2759|0.2468|0.278|0.2137|0.287|0.3443|gnomADg_AMI||0&1|0&1|20637081|||||||XLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGASPGAWGVAQQWDPLTSPVSTCPPQAAGACLPSTETVRPTTRAPTAGTWWPPCPRAGPGWEWLRWGTGSMLWAAMMGPQTWLPWSPTTP||,C|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000481067|retained_intron||||||||||rs28705211&COSV58531879|961|1||SNV|HGNC|HGNC:24023||||2||||||||||||||0.1687|0.0174|0.2017|0.0913|0.2903|0.3047|0.2411|0.04454|0.1989|0.3418|0.08084|0.2774|0.2749|0.2628|0.3016|0.2002|0.04827|0.3443|0.1872|0.3219|0.08066|0.2759|0.2468|0.278|0.2137|0.287|0.3443|gnomADg_AMI||0&1|0&1|20637081||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:13,17:0.6:30:0,2:7,9:7,11:7,6,9,8 -chr1 965350 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|11%2C11;DP=23;ECNT=2;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=72;POPAF=7.3;TLOD=92.19;SRC=snv;GRP=s001;CSQ=A|3_prime_UTR_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding|12/12||ENST00000338591.8:c.*159G>A||2198|||||rs3935066||1||SNV|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0||||||||0.6474|0.2005|0.7061|0.7083|0.9095|0.8773||||||||||0.7153|0.2952|0.8659|0.7412|0.8821|0.7346|0.9169|0.8228|0.9088|0.7641|0.8679|0.9169|gnomADg_FIN||||29422604|||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,A|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding||||||||||rs3935066|1152|1||SNV|HGNC|HGNC:25284||||1|A2|CCDS53256.1|ENSP00000368717|Q494U1.135||UPI00005764FF|Q494U1-3|||||||0.6474|0.2005|0.7061|0.7083|0.9095|0.8773||||||||||0.7153|0.2952|0.8659|0.7412|0.8821|0.7346|0.9169|0.8228|0.9088|0.7641|0.8679|0.9169|gnomADg_FIN||||29422604|||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,A|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding||||||||||rs3935066|1152|1||SNV|HGNC|HGNC:25284||||2|A2|CCDS90835.1|ENSP00000368719|Q494U1.135||UPI0000D61E06|Q494U1-2|||||||0.6474|0.2005|0.7061|0.7083|0.9095|0.8773||||||||||0.7153|0.2952|0.8659|0.7412|0.8821|0.7346|0.9169|0.8228|0.9088|0.7641|0.8679|0.9169|gnomADg_FIN||||29422604|||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGVWDASRAPRGTPDPGLGEGPALWLRSTCVYVCALSALPAGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,A|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding||||||||||rs3935066|1132|1||SNV|HGNC|HGNC:25284|YES|NM_032129.3||1|P4|CCDS4.1|ENSP00000368720|Q494U1.135||UPI00001416D8|Q494U1-1|||||||0.6474|0.2005|0.7061|0.7083|0.9095|0.8773||||||||||0.7153|0.2952|0.8659|0.7412|0.8821|0.7346|0.9169|0.8228|0.9088|0.7641|0.8679|0.9169|gnomADg_FIN||||29422604|||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,A|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000463212|retained_intron||||||||||rs3935066|2872|1||SNV|HGNC|HGNC:24023||||1||||||||||||||0.6474|0.2005|0.7061|0.7083|0.9095|0.8773||||||||||0.7153|0.2952|0.8659|0.7412|0.8821|0.7346|0.9169|0.8228|0.9088|0.7641|0.8679|0.9169|gnomADg_FIN||||29422604|||||||||,A|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000466300|nonsense_mediated_decay||||||||||rs3935066|820|1|cds_start_NF|SNV|HGNC|HGNC:24023||||3|||ENSP00000463694||J3QLT4.45|UPI000268AE1E||||||||0.6474|0.2005|0.7061|0.7083|0.9095|0.8773||||||||||0.7153|0.2952|0.8659|0.7412|0.8821|0.7346|0.9169|0.8228|0.9088|0.7641|0.8679|0.9169|gnomADg_FIN||||29422604|||||||XLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGASPGAWGVAQQWDPLTSPVSTCPPQAAGACLPSTETVRPTTRAPTAGTWWPPCPRAGPGWEWLRWGTGSMLWAAMMGPQTWLPWSPTTP||,A|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000481067|retained_intron||||||||||rs3935066|1186|1||SNV|HGNC|HGNC:24023||||2||||||||||||||0.6474|0.2005|0.7061|0.7083|0.9095|0.8773||||||||||0.7153|0.2952|0.8659|0.7412|0.8821|0.7346|0.9169|0.8228|0.9088|0.7641|0.8679|0.9169|gnomADg_FIN||||29422604||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,22:0.937:22:0,0:0,11:0,14:0|1:965337_CTTAT_C:965337:0,0,11,11 -chr1 965592 . T G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|10%2C11;DP=24;ECNT=4;GERMQ=93;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=22;POPAF=7.3;TLOD=80.81;SRC=snv;GRP=s001;CSQ=G|3_prime_UTR_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding|12/12||ENST00000338591.8:c.*401T>G||2440|||||rs9697711||1||SNV|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0||||||||0.9301|0.9334|0.9179|0.9216|0.9553|0.9172||||||||||0.9407|0.9313|0.9638|0.9353|0.928|0.9246|0.9646|0.9335|0.947|0.9394|0.9214|0.9646|gnomADg_FIN|||||||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,G|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding||||||||||rs9697711|910|1||SNV|HGNC|HGNC:25284||||1|A2|CCDS53256.1|ENSP00000368717|Q494U1.135||UPI00005764FF|Q494U1-3|||||||0.9301|0.9334|0.9179|0.9216|0.9553|0.9172||||||||||0.9407|0.9313|0.9638|0.9353|0.928|0.9246|0.9646|0.9335|0.947|0.9394|0.9214|0.9646|gnomADg_FIN|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,G|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding||||||||||rs9697711|910|1||SNV|HGNC|HGNC:25284||||2|A2|CCDS90835.1|ENSP00000368719|Q494U1.135||UPI0000D61E06|Q494U1-2|||||||0.9301|0.9334|0.9179|0.9216|0.9553|0.9172||||||||||0.9407|0.9313|0.9638|0.9353|0.928|0.9246|0.9646|0.9335|0.947|0.9394|0.9214|0.9646|gnomADg_FIN|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGVWDASRAPRGTPDPGLGEGPALWLRSTCVYVCALSALPAGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,G|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding||||||||||rs9697711|890|1||SNV|HGNC|HGNC:25284|YES|NM_032129.3||1|P4|CCDS4.1|ENSP00000368720|Q494U1.135||UPI00001416D8|Q494U1-1|||||||0.9301|0.9334|0.9179|0.9216|0.9553|0.9172||||||||||0.9407|0.9313|0.9638|0.9353|0.928|0.9246|0.9646|0.9335|0.947|0.9394|0.9214|0.9646|gnomADg_FIN|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,G|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000463212|retained_intron||||||||||rs9697711|3114|1||SNV|HGNC|HGNC:24023||||1||||||||||||||0.9301|0.9334|0.9179|0.9216|0.9553|0.9172||||||||||0.9407|0.9313|0.9638|0.9353|0.928|0.9246|0.9646|0.9335|0.947|0.9394|0.9214|0.9646|gnomADg_FIN|||||||||||||,G|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000466300|nonsense_mediated_decay||||||||||rs9697711|1062|1|cds_start_NF|SNV|HGNC|HGNC:24023||||3|||ENSP00000463694||J3QLT4.45|UPI000268AE1E||||||||0.9301|0.9334|0.9179|0.9216|0.9553|0.9172||||||||||0.9407|0.9313|0.9638|0.9353|0.928|0.9246|0.9646|0.9335|0.947|0.9394|0.9214|0.9646|gnomADg_FIN|||||||||||XLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGASPGAWGVAQQWDPLTSPVSTCPPQAAGACLPSTETVRPTTRAPTAGTWWPPCPRAGPGWEWLRWGTGSMLWAAMMGPQTWLPWSPTTP||,G|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000481067|retained_intron||||||||||rs9697711|1428|1||SNV|HGNC|HGNC:24023||||2||||||||||||||0.9301|0.9334|0.9179|0.9216|0.9553|0.9172||||||||||0.9407|0.9313|0.9638|0.9353|0.928|0.9246|0.9646|0.9335|0.947|0.9394|0.9214|0.9646|gnomADg_FIN||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,21:0.927:21:0,1:0,10:0,11:0,0,10,11 -chr1 965615 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=10%2C11|1%2C1;DP=23;ECNT=4;GERMQ=74;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=119;POPAF=7.3;TLOD=5.36;SRC=snv;GRP=s001;CSQ=T|3_prime_UTR_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding|12/12||ENST00000338591.8:c.*424C>T||2463|||||rs957800808||1||SNV|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0|||||||||||||||||||||||1.314e-05|2.412e-05|0|6.54e-05|0|0|0|0|0|0|0|6.54e-05|gnomADg_AMR|||||||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,T|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding||||||||||rs957800808|887|1||SNV|HGNC|HGNC:25284||||1|A2|CCDS53256.1|ENSP00000368717|Q494U1.135||UPI00005764FF|Q494U1-3||||||||||||||||||||||1.314e-05|2.412e-05|0|6.54e-05|0|0|0|0|0|0|0|6.54e-05|gnomADg_AMR|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,T|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding||||||||||rs957800808|887|1||SNV|HGNC|HGNC:25284||||2|A2|CCDS90835.1|ENSP00000368719|Q494U1.135||UPI0000D61E06|Q494U1-2||||||||||||||||||||||1.314e-05|2.412e-05|0|6.54e-05|0|0|0|0|0|0|0|6.54e-05|gnomADg_AMR|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGVWDASRAPRGTPDPGLGEGPALWLRSTCVYVCALSALPAGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,T|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding||||||||||rs957800808|867|1||SNV|HGNC|HGNC:25284|YES|NM_032129.3||1|P4|CCDS4.1|ENSP00000368720|Q494U1.135||UPI00001416D8|Q494U1-1||||||||||||||||||||||1.314e-05|2.412e-05|0|6.54e-05|0|0|0|0|0|0|0|6.54e-05|gnomADg_AMR|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,T|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000463212|retained_intron||||||||||rs957800808|3137|1||SNV|HGNC|HGNC:24023||||1|||||||||||||||||||||||||||||1.314e-05|2.412e-05|0|6.54e-05|0|0|0|0|0|0|0|6.54e-05|gnomADg_AMR|||||||||||||,T|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000466300|nonsense_mediated_decay||||||||||rs957800808|1085|1|cds_start_NF|SNV|HGNC|HGNC:24023||||3|||ENSP00000463694||J3QLT4.45|UPI000268AE1E|||||||||||||||||||||||1.314e-05|2.412e-05|0|6.54e-05|0|0|0|0|0|0|0|6.54e-05|gnomADg_AMR|||||||||||XLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGASPGAWGVAQQWDPLTSPVSTCPPQAAGACLPSTETVRPTTRAPTAGTWWPPCPRAGPGWEWLRWGTGSMLWAAMMGPQTWLPWSPTTP||,T|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000481067|retained_intron||||||||||rs957800808|1451|1||SNV|HGNC|HGNC:24023||||2|||||||||||||||||||||||||||||1.314e-05|2.412e-05|0|6.54e-05|0|0|0|0|0|0|0|6.54e-05|gnomADg_AMR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:21,2:0.143:23:1,0:10,1:11,1:10,11,1,1 -chr1 965643 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|10%2C11;DP=21;ECNT=4;GERMQ=93;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=72;POPAF=7.3;TLOD=78.84;SRC=snv;GRP=s001;CSQ=C|3_prime_UTR_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding|12/12||ENST00000338591.8:c.*452T>C||2491|||||rs13303351||1||SNV|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0||||||||0.8866|0.7867|0.8934|0.9196|0.9503|0.9172||||||||||0.9004|0.7975|0.9648|0.9118|0.9277|0.9222|0.9648|0.9304|0.9446|0.9078|0.9215|0.9648|gnomADg_AMI&gnomADg_FIN|||||||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,C|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding||||||||||rs13303351|859|1||SNV|HGNC|HGNC:25284||||1|A2|CCDS53256.1|ENSP00000368717|Q494U1.135||UPI00005764FF|Q494U1-3|||||||0.8866|0.7867|0.8934|0.9196|0.9503|0.9172||||||||||0.9004|0.7975|0.9648|0.9118|0.9277|0.9222|0.9648|0.9304|0.9446|0.9078|0.9215|0.9648|gnomADg_AMI&gnomADg_FIN|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding||||||||||rs13303351|859|1||SNV|HGNC|HGNC:25284||||2|A2|CCDS90835.1|ENSP00000368719|Q494U1.135||UPI0000D61E06|Q494U1-2|||||||0.8866|0.7867|0.8934|0.9196|0.9503|0.9172||||||||||0.9004|0.7975|0.9648|0.9118|0.9277|0.9222|0.9648|0.9304|0.9446|0.9078|0.9215|0.9648|gnomADg_AMI&gnomADg_FIN|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGVWDASRAPRGTPDPGLGEGPALWLRSTCVYVCALSALPAGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding||||||||||rs13303351|839|1||SNV|HGNC|HGNC:25284|YES|NM_032129.3||1|P4|CCDS4.1|ENSP00000368720|Q494U1.135||UPI00001416D8|Q494U1-1|||||||0.8866|0.7867|0.8934|0.9196|0.9503|0.9172||||||||||0.9004|0.7975|0.9648|0.9118|0.9277|0.9222|0.9648|0.9304|0.9446|0.9078|0.9215|0.9648|gnomADg_AMI&gnomADg_FIN|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000463212|retained_intron||||||||||rs13303351|3165|1||SNV|HGNC|HGNC:24023||||1||||||||||||||0.8866|0.7867|0.8934|0.9196|0.9503|0.9172||||||||||0.9004|0.7975|0.9648|0.9118|0.9277|0.9222|0.9648|0.9304|0.9446|0.9078|0.9215|0.9648|gnomADg_AMI&gnomADg_FIN|||||||||||||,C|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000466300|nonsense_mediated_decay||||||||||rs13303351|1113|1|cds_start_NF|SNV|HGNC|HGNC:24023||||3|||ENSP00000463694||J3QLT4.45|UPI000268AE1E||||||||0.8866|0.7867|0.8934|0.9196|0.9503|0.9172||||||||||0.9004|0.7975|0.9648|0.9118|0.9277|0.9222|0.9648|0.9304|0.9446|0.9078|0.9215|0.9648|gnomADg_AMI&gnomADg_FIN|||||||||||XLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGASPGAWGVAQQWDPLTSPVSTCPPQAAGACLPSTETVRPTTRAPTAGTWWPPCPRAGPGWEWLRWGTGSMLWAAMMGPQTWLPWSPTTP||,C|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000481067|retained_intron||||||||||rs13303351|1479|1||SNV|HGNC|HGNC:24023||||2||||||||||||||0.8866|0.7867|0.8934|0.9196|0.9503|0.9172||||||||||0.9004|0.7975|0.9648|0.9118|0.9277|0.9222|0.9648|0.9304|0.9446|0.9078|0.9215|0.9648|gnomADg_AMI&gnomADg_FIN||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,21:0.923:21:0,1:0,10:0,11:0,0,10,11 -chr1 966179 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=4;ECNT=3;GERMQ=46;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=17;POPAF=7.3;TLOD=3.21;SRC=snv;GRP=s001;CSQ=A|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding||||||||||rs13303160|460|1||SNV|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0||||||||0.6516|0.2194|0.7032|0.7123|0.9056|0.8753||||||||||0.718|0.3171|0.867|0.7403|0.8764|0.7355|0.9126|0.8133|0.9026|0.7646|0.8661|0.9126|gnomADg_FIN||||29422604|||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,A|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding||||||||||rs13303160|323|1||SNV|HGNC|HGNC:25284||||1|A2|CCDS53256.1|ENSP00000368717|Q494U1.135||UPI00005764FF|Q494U1-3|||||||0.6516|0.2194|0.7032|0.7123|0.9056|0.8753||||||||||0.718|0.3171|0.867|0.7403|0.8764|0.7355|0.9126|0.8133|0.9026|0.7646|0.8661|0.9126|gnomADg_FIN||||29422604|||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,A|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding||||||||||rs13303160|323|1||SNV|HGNC|HGNC:25284||||2|A2|CCDS90835.1|ENSP00000368719|Q494U1.135||UPI0000D61E06|Q494U1-2|||||||0.6516|0.2194|0.7032|0.7123|0.9056|0.8753||||||||||0.718|0.3171|0.867|0.7403|0.8764|0.7355|0.9126|0.8133|0.9026|0.7646|0.8661|0.9126|gnomADg_FIN||||29422604|||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGVWDASRAPRGTPDPGLGEGPALWLRSTCVYVCALSALPAGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,A|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding||||||||||rs13303160|303|1||SNV|HGNC|HGNC:25284|YES|NM_032129.3||1|P4|CCDS4.1|ENSP00000368720|Q494U1.135||UPI00001416D8|Q494U1-1|||||||0.6516|0.2194|0.7032|0.7123|0.9056|0.8753||||||||||0.718|0.3171|0.867|0.7403|0.8764|0.7355|0.9126|0.8133|0.9026|0.7646|0.8661|0.9126|gnomADg_FIN||||29422604|||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,A|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000463212|retained_intron||||||||||rs13303160|3701|1||SNV|HGNC|HGNC:24023||||1||||||||||||||0.6516|0.2194|0.7032|0.7123|0.9056|0.8753||||||||||0.718|0.3171|0.867|0.7403|0.8764|0.7355|0.9126|0.8133|0.9026|0.7646|0.8661|0.9126|gnomADg_FIN||||29422604|||||||||,A|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000466300|nonsense_mediated_decay||||||||||rs13303160|1649|1|cds_start_NF|SNV|HGNC|HGNC:24023||||3|||ENSP00000463694||J3QLT4.45|UPI000268AE1E||||||||0.6516|0.2194|0.7032|0.7123|0.9056|0.8753||||||||||0.718|0.3171|0.867|0.7403|0.8764|0.7355|0.9126|0.8133|0.9026|0.7646|0.8661|0.9126|gnomADg_FIN||||29422604|||||||XLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGASPGAWGVAQQWDPLTSPVSTCPPQAAGACLPSTETVRPTTRAPTAGTWWPPCPRAGPGWEWLRWGTGSMLWAAMMGPQTWLPWSPTTP||,A|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000480267|retained_intron||||||||||rs13303160|4696|1||SNV|HGNC|HGNC:25284||||3||||||||||||||0.6516|0.2194|0.7032|0.7123|0.9056|0.8753||||||||||0.718|0.3171|0.867|0.7403|0.8764|0.7355|0.9126|0.8133|0.9026|0.7646|0.8661|0.9126|gnomADg_FIN||||29422604|||||||||,A|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000481067|retained_intron||||||||||rs13303160|2015|1||SNV|HGNC|HGNC:24023||||2||||||||||||||0.6516|0.2194|0.7032|0.7123|0.9056|0.8753||||||||||0.718|0.3171|0.867|0.7403|0.8764|0.7355|0.9126|0.8133|0.9026|0.7646|0.8661|0.9126|gnomADg_FIN||||29422604|||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000112|promoter||||||||||rs13303160||||SNV||||||||||||||||||||0.6516|0.2194|0.7032|0.7123|0.9056|0.8753||||||||||0.718|0.3171|0.867|0.7403|0.8764|0.7355|0.9126|0.8133|0.9026|0.7646|0.8661|0.9126|gnomADg_FIN||||29422604||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.684:2:0,0:0,1:0,1:0,0,1,1 -chr1 966227 . C G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=3;GERMQ=52;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=69;POPAF=7.3;TLOD=14.43;SRC=snv;GRP=s001;CSQ=G|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding||||||||||rs13302996|508|1||SNV|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0||||||||0.8239|0.5567|0.8847|0.9187|0.9473|0.9172||||||||||0.8408|0.6133|0.8816|0.8954|0.9116|0.9227|0.9402|0.9082|0.9342|0.8702|0.9201|0.9473|EUR|||||||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,G|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding||||||||||rs13302996|275|1||SNV|HGNC|HGNC:25284||||1|A2|CCDS53256.1|ENSP00000368717|Q494U1.135||UPI00005764FF|Q494U1-3|||||||0.8239|0.5567|0.8847|0.9187|0.9473|0.9172||||||||||0.8408|0.6133|0.8816|0.8954|0.9116|0.9227|0.9402|0.9082|0.9342|0.8702|0.9201|0.9473|EUR|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,G|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding||||||||||rs13302996|275|1||SNV|HGNC|HGNC:25284||||2|A2|CCDS90835.1|ENSP00000368719|Q494U1.135||UPI0000D61E06|Q494U1-2|||||||0.8239|0.5567|0.8847|0.9187|0.9473|0.9172||||||||||0.8408|0.6133|0.8816|0.8954|0.9116|0.9227|0.9402|0.9082|0.9342|0.8702|0.9201|0.9473|EUR|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGVWDASRAPRGTPDPGLGEGPALWLRSTCVYVCALSALPAGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,G|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding||||||||||rs13302996|255|1||SNV|HGNC|HGNC:25284|YES|NM_032129.3||1|P4|CCDS4.1|ENSP00000368720|Q494U1.135||UPI00001416D8|Q494U1-1|||||||0.8239|0.5567|0.8847|0.9187|0.9473|0.9172||||||||||0.8408|0.6133|0.8816|0.8954|0.9116|0.9227|0.9402|0.9082|0.9342|0.8702|0.9201|0.9473|EUR|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,G|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000463212|retained_intron||||||||||rs13302996|3749|1||SNV|HGNC|HGNC:24023||||1||||||||||||||0.8239|0.5567|0.8847|0.9187|0.9473|0.9172||||||||||0.8408|0.6133|0.8816|0.8954|0.9116|0.9227|0.9402|0.9082|0.9342|0.8702|0.9201|0.9473|EUR|||||||||||||,G|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000466300|nonsense_mediated_decay||||||||||rs13302996|1697|1|cds_start_NF|SNV|HGNC|HGNC:24023||||3|||ENSP00000463694||J3QLT4.45|UPI000268AE1E||||||||0.8239|0.5567|0.8847|0.9187|0.9473|0.9172||||||||||0.8408|0.6133|0.8816|0.8954|0.9116|0.9227|0.9402|0.9082|0.9342|0.8702|0.9201|0.9473|EUR|||||||||||XLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGASPGAWGVAQQWDPLTSPVSTCPPQAAGACLPSTETVRPTTRAPTAGTWWPPCPRAGPGWEWLRWGTGSMLWAAMMGPQTWLPWSPTTP||,G|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000480267|retained_intron||||||||||rs13302996|4648|1||SNV|HGNC|HGNC:25284||||3||||||||||||||0.8239|0.5567|0.8847|0.9187|0.9473|0.9172||||||||||0.8408|0.6133|0.8816|0.8954|0.9116|0.9227|0.9402|0.9082|0.9342|0.8702|0.9201|0.9473|EUR|||||||||||||,G|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000481067|retained_intron||||||||||rs13302996|2063|1||SNV|HGNC|HGNC:24023||||2||||||||||||||0.8239|0.5567|0.8847|0.9187|0.9473|0.9172||||||||||0.8408|0.6133|0.8816|0.8954|0.9116|0.9227|0.9402|0.9082|0.9342|0.8702|0.9201|0.9473|EUR|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000112|promoter||||||||||rs13302996||||SNV||||||||||||||||||||0.8239|0.5567|0.8847|0.9187|0.9473|0.9172||||||||||0.8408|0.6133|0.8816|0.8954|0.9116|0.9227|0.9402|0.9082|0.9342|0.8702|0.9201|0.9473|EUR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 966272 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=3;GERMQ=52;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=24;POPAF=7.3;TLOD=14.83;SRC=snv;GRP=s001;CSQ=G|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding||||||||||rs2879814|553|1||SNV|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,G|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding||||||||||rs2879814|230|1||SNV|HGNC|HGNC:25284||||1|A2|CCDS53256.1|ENSP00000368717|Q494U1.135||UPI00005764FF|Q494U1-3|||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,G|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding||||||||||rs2879814|230|1||SNV|HGNC|HGNC:25284||||2|A2|CCDS90835.1|ENSP00000368719|Q494U1.135||UPI0000D61E06|Q494U1-2|||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGVWDASRAPRGTPDPGLGEGPALWLRSTCVYVCALSALPAGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,G|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding||||||||||rs2879814|210|1||SNV|HGNC|HGNC:25284|YES|NM_032129.3||1|P4|CCDS4.1|ENSP00000368720|Q494U1.135||UPI00001416D8|Q494U1-1|||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,G|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000463212|retained_intron||||||||||rs2879814|3794|1||SNV|HGNC|HGNC:24023||||1||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000466300|nonsense_mediated_decay||||||||||rs2879814|1742|1|cds_start_NF|SNV|HGNC|HGNC:24023||||3|||ENSP00000463694||J3QLT4.45|UPI000268AE1E||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||XLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGASPGAWGVAQQWDPLTSPVSTCPPQAAGACLPSTETVRPTTRAPTAGTWWPPCPRAGPGWEWLRWGTGSMLWAAMMGPQTWLPWSPTTP||,G|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000480267|retained_intron||||||||||rs2879814|4603|1||SNV|HGNC|HGNC:25284||||3||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000481067|retained_intron||||||||||rs2879814|2108|1||SNV|HGNC|HGNC:24023||||2||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000112|promoter||||||||||rs2879814||||SNV||||||||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 966665 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=2;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=113;POPAF=7.3;TLOD=7.45;SRC=snv;GRP=s001;CSQ=C|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding||||||||||rs1451964872|946|1||SNV|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0|||||||||||||||||||||||1.973e-05|0|0|0|0|0|0|0|4.412e-05|0|0|4.412e-05|gnomADg_NFE|||||||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,C|intron_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding||1/14|ENST00000379407.7:c.84-39T>C|||||||rs1451964872||1||SNV|HGNC|HGNC:25284||||1|A2|CCDS53256.1|ENSP00000368717|Q494U1.135||UPI00005764FF|Q494U1-3||||||||||||||||||||||1.973e-05|0|0|0|0|0|0|0|4.412e-05|0|0|4.412e-05|gnomADg_NFE|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|intron_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding||1/14|ENST00000379409.6:c.84-39T>C|||||||rs1451964872||1||SNV|HGNC|HGNC:25284||||2|A2|CCDS90835.1|ENSP00000368719|Q494U1.135||UPI0000D61E06|Q494U1-2||||||||||||||||||||||1.973e-05|0|0|0|0|0|0|0|4.412e-05|0|0|4.412e-05|gnomADg_NFE|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGVWDASRAPRGTPDPGLGEGPALWLRSTCVYVCALSALPAGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|intron_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding||1/15|ENST00000379410.8:c.84-39T>C|||||||rs1451964872||1||SNV|HGNC|HGNC:25284|YES|NM_032129.3||1|P4|CCDS4.1|ENSP00000368720|Q494U1.135||UPI00001416D8|Q494U1-1||||||||||||||||||||||1.973e-05|0|0|0|0|0|0|0|4.412e-05|0|0|4.412e-05|gnomADg_NFE|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000463212|retained_intron||||||||||rs1451964872|4187|1||SNV|HGNC|HGNC:24023||||1|||||||||||||||||||||||||||||1.973e-05|0|0|0|0|0|0|0|4.412e-05|0|0|4.412e-05|gnomADg_NFE|||||||||||||,C|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000466300|nonsense_mediated_decay||||||||||rs1451964872|2135|1|cds_start_NF|SNV|HGNC|HGNC:24023||||3|||ENSP00000463694||J3QLT4.45|UPI000268AE1E|||||||||||||||||||||||1.973e-05|0|0|0|0|0|0|0|4.412e-05|0|0|4.412e-05|gnomADg_NFE|||||||||||XLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGASPGAWGVAQQWDPLTSPVSTCPPQAAGACLPSTETVRPTTRAPTAGTWWPPCPRAGPGWEWLRWGTGSMLWAAMMGPQTWLPWSPTTP||,C|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000480267|retained_intron||||||||||rs1451964872|4210|1||SNV|HGNC|HGNC:25284||||3|||||||||||||||||||||||||||||1.973e-05|0|0|0|0|0|0|0|4.412e-05|0|0|4.412e-05|gnomADg_NFE|||||||||||||,C|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000481067|retained_intron||||||||||rs1451964872|2501|1||SNV|HGNC|HGNC:24023||||2|||||||||||||||||||||||||||||1.973e-05|0|0|0|0|0|0|0|4.412e-05|0|0|4.412e-05|gnomADg_NFE|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000112|promoter||||||||||rs1451964872||||SNV|||||||||||||||||||||||||||||||||||1.973e-05|0|0|0|0|0|0|0|4.412e-05|0|0|4.412e-05|gnomADg_NFE|||||||||||||,C|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00201882449|||||||||||rs1451964872||-1||SNV|||||||||||||||||||||||||||||||||||1.973e-05|0|0|0|0|0|0|0|4.412e-05|0|0|4.412e-05|gnomADg_NFE|||||ENSPFM0392|7|Y|-0.093|MYBL1::ELF1|||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 966770 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C1;DP=4;ECNT=2;GERMQ=37;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=124;POPAF=7.3;TLOD=6.66;SRC=snv;GRP=s001;CSQ=T|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding||||||||||rs373345786|1051|1||SNV|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0||||||||||||||1.166e-05|0|0|0|0|0|0|0|8.045e-05||||||||||||8.045e-05|gnomADe_SAS|||||||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,T|synonymous_variant|LOW|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding|2/15||ENST00000379407.7:c.150C>T|ENSP00000368717.2:p.Ala50%3D|180|150|50|A|gcC/gcT|rs373345786||1||SNV|HGNC|HGNC:25284||||1|A2|CCDS53256.1|ENSP00000368717|Q494U1.135||UPI00005764FF|Q494U1-3|||||||||||||1.166e-05|0|0|0|0|0|0|0|8.045e-05||||||||||||8.045e-05|gnomADe_SAS|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,T|synonymous_variant|LOW|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding|2/15||ENST00000379409.6:c.150C>T|ENSP00000368719.2:p.Ala50%3D|180|150|50|A|gcC/gcT|rs373345786||1||SNV|HGNC|HGNC:25284||||2|A2|CCDS90835.1|ENSP00000368719|Q494U1.135||UPI0000D61E06|Q494U1-2|||||||||||||1.166e-05|0|0|0|0|0|0|0|8.045e-05||||||||||||8.045e-05|gnomADe_SAS|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGVWDASRAPRGTPDPGLGEGPALWLRSTCVYVCALSALPAGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,T|synonymous_variant|LOW|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding|2/16||ENST00000379410.8:c.150C>T|ENSP00000368720.3:p.Ala50%3D|200|150|50|A|gcC/gcT|rs373345786||1||SNV|HGNC|HGNC:25284|YES|NM_032129.3||1|P4|CCDS4.1|ENSP00000368720|Q494U1.135||UPI00001416D8|Q494U1-1|||||||||||||1.166e-05|0|0|0|0|0|0|0|8.045e-05||||||||||||8.045e-05|gnomADe_SAS|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,T|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000463212|retained_intron||||||||||rs373345786|4292|1||SNV|HGNC|HGNC:24023||||1||||||||||||||||||||1.166e-05|0|0|0|0|0|0|0|8.045e-05||||||||||||8.045e-05|gnomADe_SAS|||||||||||||,T|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000466300|nonsense_mediated_decay||||||||||rs373345786|2240|1|cds_start_NF|SNV|HGNC|HGNC:24023||||3|||ENSP00000463694||J3QLT4.45|UPI000268AE1E||||||||||||||1.166e-05|0|0|0|0|0|0|0|8.045e-05||||||||||||8.045e-05|gnomADe_SAS|||||||||||XLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGASPGAWGVAQQWDPLTSPVSTCPPQAAGACLPSTETVRPTTRAPTAGTWWPPCPRAGPGWEWLRWGTGSMLWAAMMGPQTWLPWSPTTP||,T|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000480267|retained_intron||||||||||rs373345786|4105|1||SNV|HGNC|HGNC:25284||||3||||||||||||||||||||1.166e-05|0|0|0|0|0|0|0|8.045e-05||||||||||||8.045e-05|gnomADe_SAS|||||||||||||,T|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000481067|retained_intron||||||||||rs373345786|2606|1||SNV|HGNC|HGNC:24023||||2||||||||||||||||||||1.166e-05|0|0|0|0|0|0|0|8.045e-05||||||||||||8.045e-05|gnomADe_SAS|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000112|promoter||||||||||rs373345786||||SNV||||||||||||||||||||||||||1.166e-05|0|0|0|0|0|0|0|8.045e-05||||||||||||8.045e-05|gnomADe_SAS|||||||||||||,T|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00042468395|||||||||||rs373345786||-1||SNV||||||||||||||||||||||||||1.166e-05|0|0|0|0|0|0|0|8.045e-05||||||||||||8.045e-05|gnomADe_SAS|||||ENSPFM0114|8|Y|-0.164|ETV2::FOXI1&ELK1::FOXI1&ERF::FOXI1&FOXO1::ELF1&FOXO1::ELK1&FLI1::FOXI1&ETV5::FOXI1|||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.5:4:0,0:1,1:1,1:1,1,1,1 -chr1 967384 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C1;DP=4;ECNT=2;GERMQ=52;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=53;POPAF=7.3;TLOD=17.4;SRC=snv;GRP=s001;CSQ=G|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding||||||||||rs80125161|1665|1||SNV|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0||||||||0.4583|0.0817|0.4914|0.621|0.6471|0.5818||||||||||0.4903|0.156|0.5044|0.5239|0.5522|0.6508|0.6385|0.5387|0.6402|0.5111|0.5878|0.6508|gnomADg_EAS|||||||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,G|intron_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding||2/14|ENST00000379407.7:c.183+581C>G|||||||rs80125161||1||SNV|HGNC|HGNC:25284||||1|A2|CCDS53256.1|ENSP00000368717|Q494U1.135||UPI00005764FF|Q494U1-3|||||||0.4583|0.0817|0.4914|0.621|0.6471|0.5818||||||||||0.4903|0.156|0.5044|0.5239|0.5522|0.6508|0.6385|0.5387|0.6402|0.5111|0.5878|0.6508|gnomADg_EAS|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,G|intron_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding||2/14|ENST00000379409.6:c.183+581C>G|||||||rs80125161||1||SNV|HGNC|HGNC:25284||||2|A2|CCDS90835.1|ENSP00000368719|Q494U1.135||UPI0000D61E06|Q494U1-2|||||||0.4583|0.0817|0.4914|0.621|0.6471|0.5818||||||||||0.4903|0.156|0.5044|0.5239|0.5522|0.6508|0.6385|0.5387|0.6402|0.5111|0.5878|0.6508|gnomADg_EAS|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGVWDASRAPRGTPDPGLGEGPALWLRSTCVYVCALSALPAGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,G|intron_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding||2/15|ENST00000379410.8:c.183+581C>G|||||||rs80125161||1||SNV|HGNC|HGNC:25284|YES|NM_032129.3||1|P4|CCDS4.1|ENSP00000368720|Q494U1.135||UPI00001416D8|Q494U1-1|||||||0.4583|0.0817|0.4914|0.621|0.6471|0.5818||||||||||0.4903|0.156|0.5044|0.5239|0.5522|0.6508|0.6385|0.5387|0.6402|0.5111|0.5878|0.6508|gnomADg_EAS|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,G|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000463212|retained_intron||||||||||rs80125161|4906|1||SNV|HGNC|HGNC:24023||||1||||||||||||||0.4583|0.0817|0.4914|0.621|0.6471|0.5818||||||||||0.4903|0.156|0.5044|0.5239|0.5522|0.6508|0.6385|0.5387|0.6402|0.5111|0.5878|0.6508|gnomADg_EAS|||||||||||||,G|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000466300|nonsense_mediated_decay||||||||||rs80125161|2854|1|cds_start_NF|SNV|HGNC|HGNC:24023||||3|||ENSP00000463694||J3QLT4.45|UPI000268AE1E||||||||0.4583|0.0817|0.4914|0.621|0.6471|0.5818||||||||||0.4903|0.156|0.5044|0.5239|0.5522|0.6508|0.6385|0.5387|0.6402|0.5111|0.5878|0.6508|gnomADg_EAS|||||||||||XLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGASPGAWGVAQQWDPLTSPVSTCPPQAAGACLPSTETVRPTTRAPTAGTWWPPCPRAGPGWEWLRWGTGSMLWAAMMGPQTWLPWSPTTP||,G|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000480267|retained_intron||||||||||rs80125161|3491|1||SNV|HGNC|HGNC:25284||||3||||||||||||||0.4583|0.0817|0.4914|0.621|0.6471|0.5818||||||||||0.4903|0.156|0.5044|0.5239|0.5522|0.6508|0.6385|0.5387|0.6402|0.5111|0.5878|0.6508|gnomADg_EAS|||||||||||||,G|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000481067|retained_intron||||||||||rs80125161|3220|1||SNV|HGNC|HGNC:24023||||2||||||||||||||0.4583|0.0817|0.4914|0.621|0.6471|0.5818||||||||||0.4903|0.156|0.5044|0.5239|0.5522|0.6508|0.6385|0.5387|0.6402|0.5111|0.5878|0.6508|gnomADg_EAS|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000112|promoter||||||||||rs80125161||||SNV||||||||||||||||||||0.4583|0.0817|0.4914|0.621|0.6471|0.5818||||||||||0.4903|0.156|0.5044|0.5239|0.5522|0.6508|0.6385|0.5387|0.6402|0.5111|0.5878|0.6508|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,4:0.8:4:0,0:0,3:0,3:0|1:967376_AC_A:967376:0,0,3,1 -chr1 968841 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C1;DP=4;ECNT=1;GERMQ=37;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=113;POPAF=7.3;TLOD=6.68;SRC=snv;GRP=s001;CSQ=C|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding|||||||||||3122|1||SNV|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0||||||||||||||||||||||||||||||||||||||||||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,C|intron_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding||2/14|ENST00000379407.7:c.184-1436T>C|||||||||1||SNV|HGNC|HGNC:25284||||1|A2|CCDS53256.1|ENSP00000368717|Q494U1.135||UPI00005764FF|Q494U1-3|||||||||||||||||||||||||||||||||||||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|intron_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding||2/14|ENST00000379409.6:c.184-1436T>C|||||||||1||SNV|HGNC|HGNC:25284||||2|A2|CCDS90835.1|ENSP00000368719|Q494U1.135||UPI0000D61E06|Q494U1-2|||||||||||||||||||||||||||||||||||||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGVWDASRAPRGTPDPGLGEGPALWLRSTCVYVCALSALPAGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|intron_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding||2/15|ENST00000379410.8:c.184-1436T>C|||||||||1||SNV|HGNC|HGNC:25284|YES|NM_032129.3||1|P4|CCDS4.1|ENSP00000368720|Q494U1.135||UPI00001416D8|Q494U1-1|||||||||||||||||||||||||||||||||||||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000466300|nonsense_mediated_decay|||||||||||4311|1|cds_start_NF|SNV|HGNC|HGNC:24023||||3|||ENSP00000463694||J3QLT4.45|UPI000268AE1E||||||||||||||||||||||||||||||||||||||||||||||XLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGASPGAWGVAQQWDPLTSPVSTCPPQAAGACLPSTETVRPTTRAPTAGTWWPPCPRAGPGWEWLRWGTGSMLWAAMMGPQTWLPWSPTTP||,C|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000480267|retained_intron|||||||||||2034|1||SNV|HGNC|HGNC:25284||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000481067|retained_intron|||||||||||4677|1||SNV|HGNC|HGNC:24023||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000491024|protein_coding|||||||||||4671|1|cds_start_NF|SNV|HGNC|HGNC:25284||||3|||ENSP00000462558||J3KSM5.48|UPI000268AE1F||||||||||||||||||||||||||||||||||||||||||||||SLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.5:4:0,0:1,1:1,1:1,1,1,1 -chr1 970005 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C0|1%2C1;DP=4;ECNT=1;GERMQ=37;MBQ=34,29;MFRL=0,0;MMQ=41,60;MPOS=43;POPAF=7.3;TLOD=5.57;SRC=snv;GRP=s001;CSQ=A|downstream_gene_variant|MODIFIER|KLHL17|ENSG00000187961|Transcript|ENST00000338591|protein_coding|||||||||||4286|1||SNV|HGNC|HGNC:24023|YES|NM_198317.3||1|P1|CCDS30550.1|ENSP00000343930|Q6TDP4.149||UPI00001DFBF0||||||||||||||||||||||||||||||||||||||||||||||MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL||,A|intron_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding||2/14|ENST00000379407.7:c.184-272G>A|||||||||1||SNV|HGNC|HGNC:25284||||1|A2|CCDS53256.1|ENSP00000368717|Q494U1.135||UPI00005764FF|Q494U1-3|||||||||||||||||||||||||||||||||||||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,A|intron_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding||2/14|ENST00000379409.6:c.184-272G>A|||||||||1||SNV|HGNC|HGNC:25284||||2|A2|CCDS90835.1|ENSP00000368719|Q494U1.135||UPI0000D61E06|Q494U1-2|||||||||||||||||||||||||||||||||||||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGVWDASRAPRGTPDPGLGEGPALWLRSTCVYVCALSALPAGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,A|intron_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding||2/15|ENST00000379410.8:c.184-272G>A|||||||||1||SNV|HGNC|HGNC:25284|YES|NM_032129.3||1|P4|CCDS4.1|ENSP00000368720|Q494U1.135||UPI00001416D8|Q494U1-1|||||||||||||||||||||||||||||||||||||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,A|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000480267|retained_intron|||||||||||870|1||SNV|HGNC|HGNC:25284||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000491024|protein_coding|||||||||||3507|1|cds_start_NF|SNV|HGNC|HGNC:25284||||3|||ENSP00000462558||J3KSM5.48|UPI000268AE1F||||||||||||||||||||||||||||||||||||||||||||||SLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.4:4:0,0:2,1:2,1:2,0,1,1 -chr1 970874 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C1|1%2C1;DP=3;ECNT=1;GERMQ=38;MBQ=32,29;MFRL=0,0;MMQ=60,60;MPOS=90;POPAF=7.3;TLOD=5.97;SRC=snv;GRP=s001;CSQ=G|downstream_gene_variant|MODIFIER|PERM1|ENSG00000187642|Transcript|ENST00000341290|protein_coding||||||||||rs770653962|4330|-1||SNV|HGNC|HGNC:28208||||2|A2|CCDS90836.1|ENSP00000343864|Q5SV97.110||UPI000022DAF4|Q5SV97-3|||||||||||||||||||||||||||||||||||||||||||||MEPRGGGSSQFSSCPGPASSGDQMQRLLQGPAPRPPGEPPGSPKSPGHSTGSQRPPDSPGAPPRSPSRKKRRAVGAKGGGHTGASASAQTGSPLLPAASPETAKLMAKAGQEELGPGPAGAPEPGPRSPVQEDRPGPGLGLSTPVPVTEQGTDQIRTPRRAKLHTVSTTVWEALPDVSRAKSDMAVSTPASEPQPDRDMAVSTPASEPQSDRDMAVSTPASEPQPDTDMAVSTPASEPQPDRDMAVSIPASKPQSDTAVSTPASEPQSSVALSTPISKPQLDTDVAVSTPASKHGLDVALPTAGPVAKLEVASSPPVSEAVPRMTESSGLVSTPVPRADAAGLAWPPTRRAGPDVVEMEAVVSEPSAGAPGCCSGAPALGLTQVPRKKKVRFSVAGPSPNKPGSGQASARPSAPQTATGAHGGPGAWEAVAVGPRPHQPRILKHLPRPPPSAVTRVGPGSSFAVTLPEAYEFFFCDTIEENEEAEAAAAGQDPAGVQWPDMCEFFFPDVGAQRSRRRGSPEPLPRADPVPAPIPGDPVPISIPEVYEHFFFGEDRLEGVLGPAVPLPLQALEPPRSASEGAGPGTPLKPAVVERLHLALRRAGELRGPVPSFAFSQNDMCLVFVAFATWAVRTSDPHTPDAWKTALLANVGTISAIRYFRRQVGQGRRSHSPSPSS||,G|splice_region_variant&splice_polypyrimidine_tract_variant&intron_variant|LOW|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding||5/14|ENST00000379407.7:c.485-5C>G|||||||rs770653962||1||SNV|HGNC|HGNC:25284||||1|A2|CCDS53256.1|ENSP00000368717|Q494U1.135||UPI00005764FF|Q494U1-3|||||||||||||||||||||||||||||||||||||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,G|synonymous_variant|LOW|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding|5/15||ENST00000379409.6:c.600C>G|ENSP00000368719.2:p.Pro200%3D|630|600|200|P|ccC/ccG|rs770653962||1||SNV|HGNC|HGNC:25284||||2|A2|CCDS90835.1|ENSP00000368719|Q494U1.135||UPI0000D61E06|Q494U1-2|||||||||||||||||||||||||||||||||||||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGVWDASRAPRGTPDPGLGEGPALWLRSTCVYVCALSALPAGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,G|splice_region_variant&splice_polypyrimidine_tract_variant&intron_variant|LOW|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding||5/15|ENST00000379410.8:c.485-5C>G|||||||rs770653962||1||SNV|HGNC|HGNC:25284|YES|NM_032129.3||1|P4|CCDS4.1|ENSP00000368720|Q494U1.135||UPI00001416D8|Q494U1-1|||||||||||||||||||||||||||||||||||||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,G|downstream_gene_variant|MODIFIER|PERM1|ENSG00000187642|Transcript|ENST00000433179|protein_coding||||||||||rs770653962|4324|-1||SNV|HGNC|HGNC:28208|YES|NM_001394713.1||5|P3|CCDS76083.1|ENSP00000414022|Q5SV97.110||UPI0003E30FA7|Q5SV97-1|||||||||||||||||||||||||||||||||||||||||||||MENFQYSVQLSDQDWAEFSATADECGLLQAGLASGDELLSSDIDQGDSSGSSPPRAPPLPTGQLAAGGRSRRGCEEEDVATQQPVSRSQGEPVLALGTGQQTPSTSARAEAPPSLGPGASPPSQFSSCPGPASSGDQMQRLLQGPAPRPPGEPPGSPKSPGHSTGSQRPPDSPGAPPRSPSRKKRRAVGAKGGGHTGASASAQTGSPLLPAASPETAKLMAKAGQEELGPGPAGAPEPGPRSPVQEDRPGPGLGLSTPVPVTEQGTDQIRTPRRAKLHTVSTTVWEALPDVSRAKSDMAVSTPASEPQPDRDMAVSTPASEPQSDRDMAVSTPASEPQPDTDMAVSTPASEPQPDRDMAVSIPASKPQSDTAVSTPASEPQSSVALSTPISKPQLDTDVAVSTPASKHGLDVALPTAGPVAKLEVASSPPVSEAVPRMTESSGLVSTPVPRADAAGLAWPPTRRAGPDVVEMEAVVSEPSAGAPGCCSGAPALGLTQVPRKKKVRFSVAGPSPNKPGSGQASARPSAPQTATGAHGGPGAWEAVAVGPRPHQPRILKHLPRPPPSAVTRVGPGSSFAVTLPEAYEFFFCDTIEENEEAEAAAAGQDPAGVQWPDMCEFFFPDVGAQRSRRRGSPEPLPRADPVPAPIPGDPVPISIPEVYEHFFFGEDRLEGVLGPAVPLPLQALEPPRSASEGAGPGTPLKPAVVERLHLALRRAGELRGPVPSFAFSQNDMCLVFVAFATWAVRTSDPHTPDAWKTALLANVGTISAIRYFRRQVGQGRRSHSPSPSS||,G|downstream_gene_variant|MODIFIER|PERM1|ENSG00000187642|Transcript|ENST00000479361|retained_intron||||||||||rs770653962|4331|-1||SNV|HGNC|HGNC:28208||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000480267|retained_intron||||||||||rs770653962|1|1||SNV|HGNC|HGNC:25284||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000491024|protein_coding||||||||||rs770653962|2638|1|cds_start_NF|SNV|HGNC|HGNC:25284||||3|||ENSP00000462558||J3KSM5.48|UPI000268AE1F||||||||||||||||||||||||||||||||||||||||||||||SLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,2:0.5:3:1,0:0,1:1,1:0,1,1,1 -chr1 971513 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C0|1%2C1;DP=3;ECNT=1;GERMQ=38;MBQ=32,30;MFRL=0,0;MMQ=60,60;MPOS=3;POPAF=7.3;TLOD=6.18;SRC=snv;GRP=s001;CSQ=A|downstream_gene_variant|MODIFIER|PERM1|ENSG00000187642|Transcript|ENST00000341290|protein_coding||||||||||rs373761289|3691|-1||SNV|HGNC|HGNC:28208||||2|A2|CCDS90836.1|ENSP00000343864|Q5SV97.110||UPI000022DAF4|Q5SV97-3|||||||0.0026|0|0.0014|0.0119|0|0||||||||||0.000355|0.000676|0|0.0001962|0|0.004245|0|0|1.471e-05|0|0|0.0119|EAS|||||||||||MEPRGGGSSQFSSCPGPASSGDQMQRLLQGPAPRPPGEPPGSPKSPGHSTGSQRPPDSPGAPPRSPSRKKRRAVGAKGGGHTGASASAQTGSPLLPAASPETAKLMAKAGQEELGPGPAGAPEPGPRSPVQEDRPGPGLGLSTPVPVTEQGTDQIRTPRRAKLHTVSTTVWEALPDVSRAKSDMAVSTPASEPQPDRDMAVSTPASEPQSDRDMAVSTPASEPQPDTDMAVSTPASEPQPDRDMAVSIPASKPQSDTAVSTPASEPQSSVALSTPISKPQLDTDVAVSTPASKHGLDVALPTAGPVAKLEVASSPPVSEAVPRMTESSGLVSTPVPRADAAGLAWPPTRRAGPDVVEMEAVVSEPSAGAPGCCSGAPALGLTQVPRKKKVRFSVAGPSPNKPGSGQASARPSAPQTATGAHGGPGAWEAVAVGPRPHQPRILKHLPRPPPSAVTRVGPGSSFAVTLPEAYEFFFCDTIEENEEAEAAAAGQDPAGVQWPDMCEFFFPDVGAQRSRRRGSPEPLPRADPVPAPIPGDPVPISIPEVYEHFFFGEDRLEGVLGPAVPLPLQALEPPRSASEGAGPGTPLKPAVVERLHLALRRAGELRGPVPSFAFSQNDMCLVFVAFATWAVRTSDPHTPDAWKTALLANVGTISAIRYFRRQVGQGRRSHSPSPSS||,A|intron_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding||8/14|ENST00000379407.7:c.825+109G>A|||||||rs373761289||1||SNV|HGNC|HGNC:25284||||1|A2|CCDS53256.1|ENSP00000368717|Q494U1.135||UPI00005764FF|Q494U1-3|||||||0.0026|0|0.0014|0.0119|0|0||||||||||0.000355|0.000676|0|0.0001962|0|0.004245|0|0|1.471e-05|0|0|0.0119|EAS|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,A|intron_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding||7/14|ENST00000379409.6:c.945+109G>A|||||||rs373761289||1||SNV|HGNC|HGNC:25284||||2|A2|CCDS90835.1|ENSP00000368719|Q494U1.135||UPI0000D61E06|Q494U1-2|||||||0.0026|0|0.0014|0.0119|0|0||||||||||0.000355|0.000676|0|0.0001962|0|0.004245|0|0|1.471e-05|0|0|0.0119|EAS|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGVWDASRAPRGTPDPGLGEGPALWLRSTCVYVCALSALPAGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,A|intron_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding||8/15|ENST00000379410.8:c.789+109G>A|||||||rs373761289||1||SNV|HGNC|HGNC:25284|YES|NM_032129.3||1|P4|CCDS4.1|ENSP00000368720|Q494U1.135||UPI00001416D8|Q494U1-1|||||||0.0026|0|0.0014|0.0119|0|0||||||||||0.000355|0.000676|0|0.0001962|0|0.004245|0|0|1.471e-05|0|0|0.0119|EAS|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,A|downstream_gene_variant|MODIFIER|PERM1|ENSG00000187642|Transcript|ENST00000433179|protein_coding||||||||||rs373761289|3685|-1||SNV|HGNC|HGNC:28208|YES|NM_001394713.1||5|P3|CCDS76083.1|ENSP00000414022|Q5SV97.110||UPI0003E30FA7|Q5SV97-1|||||||0.0026|0|0.0014|0.0119|0|0||||||||||0.000355|0.000676|0|0.0001962|0|0.004245|0|0|1.471e-05|0|0|0.0119|EAS|||||||||||MENFQYSVQLSDQDWAEFSATADECGLLQAGLASGDELLSSDIDQGDSSGSSPPRAPPLPTGQLAAGGRSRRGCEEEDVATQQPVSRSQGEPVLALGTGQQTPSTSARAEAPPSLGPGASPPSQFSSCPGPASSGDQMQRLLQGPAPRPPGEPPGSPKSPGHSTGSQRPPDSPGAPPRSPSRKKRRAVGAKGGGHTGASASAQTGSPLLPAASPETAKLMAKAGQEELGPGPAGAPEPGPRSPVQEDRPGPGLGLSTPVPVTEQGTDQIRTPRRAKLHTVSTTVWEALPDVSRAKSDMAVSTPASEPQPDRDMAVSTPASEPQSDRDMAVSTPASEPQPDTDMAVSTPASEPQPDRDMAVSIPASKPQSDTAVSTPASEPQSSVALSTPISKPQLDTDVAVSTPASKHGLDVALPTAGPVAKLEVASSPPVSEAVPRMTESSGLVSTPVPRADAAGLAWPPTRRAGPDVVEMEAVVSEPSAGAPGCCSGAPALGLTQVPRKKKVRFSVAGPSPNKPGSGQASARPSAPQTATGAHGGPGAWEAVAVGPRPHQPRILKHLPRPPPSAVTRVGPGSSFAVTLPEAYEFFFCDTIEENEEAEAAAAGQDPAGVQWPDMCEFFFPDVGAQRSRRRGSPEPLPRADPVPAPIPGDPVPISIPEVYEHFFFGEDRLEGVLGPAVPLPLQALEPPRSASEGAGPGTPLKPAVVERLHLALRRAGELRGPVPSFAFSQNDMCLVFVAFATWAVRTSDPHTPDAWKTALLANVGTISAIRYFRRQVGQGRRSHSPSPSS||,A|downstream_gene_variant|MODIFIER|PERM1|ENSG00000187642|Transcript|ENST00000479361|retained_intron||||||||||rs373761289|3692|-1||SNV|HGNC|HGNC:28208||||1||||||||||||||0.0026|0|0.0014|0.0119|0|0||||||||||0.000355|0.000676|0|0.0001962|0|0.004245|0|0|1.471e-05|0|0|0.0119|EAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000480267|retained_intron|3/3||ENST00000480267.1:n.454G>A||454|||||rs373761289||1||SNV|HGNC|HGNC:25284||||3||||||||||||||0.0026|0|0.0014|0.0119|0|0||||||||||0.000355|0.000676|0|0.0001962|0|0.004245|0|0|1.471e-05|0|0|0.0119|EAS|||||||||||||,A|upstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000491024|protein_coding||||||||||rs373761289|1999|1|cds_start_NF|SNV|HGNC|HGNC:25284||||3|||ENSP00000462558||J3KSM5.48|UPI000268AE1F||||||||0.0026|0|0.0014|0.0119|0|0||||||||||0.000355|0.000676|0|0.0001962|0|0.004245|0|0|1.471e-05|0|0|0.0119|EAS|||||||||||SLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,A|downstream_gene_variant|MODIFIER|PERM1|ENSG00000187642|Transcript|ENST00000694917|protein_coding||||||||||rs373761289|4608|-1||SNV|HGNC|HGNC:28208|||||P3|CCDS76083.1|ENSP00000511592|Q5SV97.110||UPI0003E30FA7|Q5SV97-1|||||||0.0026|0|0.0014|0.0119|0|0||||||||||0.000355|0.000676|0|0.0001962|0|0.004245|0|0|1.471e-05|0|0|0.0119|EAS|||||||||||MENFQYSVQLSDQDWAEFSATADECGLLQAGLASGDELLSSDIDQGDSSGSSPPRAPPLPTGQLAAGGRSRRGCEEEDVATQQPVSRSQGEPVLALGTGQQTPSTSARAEAPPSLGPGASPPSQFSSCPGPASSGDQMQRLLQGPAPRPPGEPPGSPKSPGHSTGSQRPPDSPGAPPRSPSRKKRRAVGAKGGGHTGASASAQTGSPLLPAASPETAKLMAKAGQEELGPGPAGAPEPGPRSPVQEDRPGPGLGLSTPVPVTEQGTDQIRTPRRAKLHTVSTTVWEALPDVSRAKSDMAVSTPASEPQPDRDMAVSTPASEPQSDRDMAVSTPASEPQPDTDMAVSTPASEPQPDRDMAVSIPASKPQSDTAVSTPASEPQSSVALSTPISKPQLDTDVAVSTPASKHGLDVALPTAGPVAKLEVASSPPVSEAVPRMTESSGLVSTPVPRADAAGLAWPPTRRAGPDVVEMEAVVSEPSAGAPGCCSGAPALGLTQVPRKKKVRFSVAGPSPNKPGSGQASARPSAPQTATGAHGGPGAWEAVAVGPRPHQPRILKHLPRPPPSAVTRVGPGSSFAVTLPEAYEFFFCDTIEENEEAEAAAAGQDPAGVQWPDMCEFFFPDVGAQRSRRRGSPEPLPRADPVPAPIPGDPVPISIPEVYEHFFFGEDRLEGVLGPAVPLPLQALEPPRSASEGAGPGTPLKPAVVERLHLALRRAGELRGPVPSFAFSQNDMCLVFVAFATWAVRTSDPHTPDAWKTALLANVGTISAIRYFRRQVGQGRRSHSPSPSS|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,2:0.5:3:0,0:1,1:1,1:1,0,1,1 -chr1 973841 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=52;POPAF=7.3;TLOD=3.58;SRC=snv;GRP=s001;CSQ=C|downstream_gene_variant|MODIFIER|PERM1|ENSG00000187642|Transcript|ENST00000341290|protein_coding||||||||||rs62639985|1363|-1||SNV|HGNC|HGNC:28208||||2|A2|CCDS90836.1|ENSP00000343864|Q5SV97.110||UPI000022DAF4|Q5SV97-3|||||||0.0162|0.003|0.0187|0|0.0378|0.0266|0.02734|0.006975|0.01271|0.02834|0|0.0229|0.04176|0.02959|0.02205|0.02769|0.007529|0.07599|0.01996|0.02535|0|0.02342|0.02848|0.04429|0.02153|0.02567|0.07599|gnomADg_AMI|||||||||||MEPRGGGSSQFSSCPGPASSGDQMQRLLQGPAPRPPGEPPGSPKSPGHSTGSQRPPDSPGAPPRSPSRKKRRAVGAKGGGHTGASASAQTGSPLLPAASPETAKLMAKAGQEELGPGPAGAPEPGPRSPVQEDRPGPGLGLSTPVPVTEQGTDQIRTPRRAKLHTVSTTVWEALPDVSRAKSDMAVSTPASEPQPDRDMAVSTPASEPQSDRDMAVSTPASEPQPDTDMAVSTPASEPQPDRDMAVSIPASKPQSDTAVSTPASEPQSSVALSTPISKPQLDTDVAVSTPASKHGLDVALPTAGPVAKLEVASSPPVSEAVPRMTESSGLVSTPVPRADAAGLAWPPTRRAGPDVVEMEAVVSEPSAGAPGCCSGAPALGLTQVPRKKKVRFSVAGPSPNKPGSGQASARPSAPQTATGAHGGPGAWEAVAVGPRPHQPRILKHLPRPPPSAVTRVGPGSSFAVTLPEAYEFFFCDTIEENEEAEAAAAGQDPAGVQWPDMCEFFFPDVGAQRSRRRGSPEPLPRADPVPAPIPGDPVPISIPEVYEHFFFGEDRLEGVLGPAVPLPLQALEPPRSASEGAGPGTPLKPAVVERLHLALRRAGELRGPVPSFAFSQNDMCLVFVAFATWAVRTSDPHTPDAWKTALLANVGTISAIRYFRRQVGQGRRSHSPSPSS||,C|synonymous_variant|LOW|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding|13/15||ENST00000379407.7:c.1338T>C|ENSP00000368717.2:p.Ser446%3D|1368|1338|446|S|agT/agC|rs62639985||1||SNV|HGNC|HGNC:25284||||1|A2|CCDS53256.1|ENSP00000368717|Q494U1.135||UPI00005764FF|Q494U1-3|||||||0.0162|0.003|0.0187|0|0.0378|0.0266|0.02734|0.006975|0.01271|0.02834|0|0.0229|0.04176|0.02959|0.02205|0.02769|0.007529|0.07599|0.01996|0.02535|0|0.02342|0.02848|0.04429|0.02153|0.02567|0.07599|gnomADg_AMI|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|synonymous_variant|LOW|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding|13/15||ENST00000379409.6:c.1599T>C|ENSP00000368719.2:p.Ser533%3D|1629|1599|533|S|agT/agC|rs62639985||1||SNV|HGNC|HGNC:25284||||2|A2|CCDS90835.1|ENSP00000368719|Q494U1.135||UPI0000D61E06|Q494U1-2|||||||0.0162|0.003|0.0187|0|0.0378|0.0266|0.02734|0.006975|0.01271|0.02834|0|0.0229|0.04176|0.02959|0.02205|0.02769|0.007529|0.07599|0.01996|0.02535|0|0.02342|0.02848|0.04429|0.02153|0.02567|0.07599|gnomADg_AMI|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGVWDASRAPRGTPDPGLGEGPALWLRSTCVYVCALSALPAGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|synonymous_variant|LOW|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding|14/16||ENST00000379410.8:c.1443T>C|ENSP00000368720.3:p.Ser481%3D|1493|1443|481|S|agT/agC|rs62639985||1||SNV|HGNC|HGNC:25284|YES|NM_032129.3||1|P4|CCDS4.1|ENSP00000368720|Q494U1.135||UPI00001416D8|Q494U1-1|||||||0.0162|0.003|0.0187|0|0.0378|0.0266|0.02734|0.006975|0.01271|0.02834|0|0.0229|0.04176|0.02959|0.02205|0.02769|0.007529|0.07599|0.01996|0.02535|0|0.02342|0.02848|0.04429|0.02153|0.02567|0.07599|gnomADg_AMI|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|downstream_gene_variant|MODIFIER|PERM1|ENSG00000187642|Transcript|ENST00000433179|protein_coding||||||||||rs62639985|1357|-1||SNV|HGNC|HGNC:28208|YES|NM_001394713.1||5|P3|CCDS76083.1|ENSP00000414022|Q5SV97.110||UPI0003E30FA7|Q5SV97-1|||||||0.0162|0.003|0.0187|0|0.0378|0.0266|0.02734|0.006975|0.01271|0.02834|0|0.0229|0.04176|0.02959|0.02205|0.02769|0.007529|0.07599|0.01996|0.02535|0|0.02342|0.02848|0.04429|0.02153|0.02567|0.07599|gnomADg_AMI|||||||||||MENFQYSVQLSDQDWAEFSATADECGLLQAGLASGDELLSSDIDQGDSSGSSPPRAPPLPTGQLAAGGRSRRGCEEEDVATQQPVSRSQGEPVLALGTGQQTPSTSARAEAPPSLGPGASPPSQFSSCPGPASSGDQMQRLLQGPAPRPPGEPPGSPKSPGHSTGSQRPPDSPGAPPRSPSRKKRRAVGAKGGGHTGASASAQTGSPLLPAASPETAKLMAKAGQEELGPGPAGAPEPGPRSPVQEDRPGPGLGLSTPVPVTEQGTDQIRTPRRAKLHTVSTTVWEALPDVSRAKSDMAVSTPASEPQPDRDMAVSTPASEPQSDRDMAVSTPASEPQPDTDMAVSTPASEPQPDRDMAVSIPASKPQSDTAVSTPASEPQSSVALSTPISKPQLDTDVAVSTPASKHGLDVALPTAGPVAKLEVASSPPVSEAVPRMTESSGLVSTPVPRADAAGLAWPPTRRAGPDVVEMEAVVSEPSAGAPGCCSGAPALGLTQVPRKKKVRFSVAGPSPNKPGSGQASARPSAPQTATGAHGGPGAWEAVAVGPRPHQPRILKHLPRPPPSAVTRVGPGSSFAVTLPEAYEFFFCDTIEENEEAEAAAAGQDPAGVQWPDMCEFFFPDVGAQRSRRRGSPEPLPRADPVPAPIPGDPVPISIPEVYEHFFFGEDRLEGVLGPAVPLPLQALEPPRSASEGAGPGTPLKPAVVERLHLALRRAGELRGPVPSFAFSQNDMCLVFVAFATWAVRTSDPHTPDAWKTALLANVGTISAIRYFRRQVGQGRRSHSPSPSS||,C|downstream_gene_variant|MODIFIER|PERM1|ENSG00000187642|Transcript|ENST00000479361|retained_intron||||||||||rs62639985|1364|-1||SNV|HGNC|HGNC:28208||||1||||||||||||||0.0162|0.003|0.0187|0|0.0378|0.0266|0.02734|0.006975|0.01271|0.02834|0|0.0229|0.04176|0.02959|0.02205|0.02769|0.007529|0.07599|0.01996|0.02535|0|0.02342|0.02848|0.04429|0.02153|0.02567|0.07599|gnomADg_AMI|||||||||||||,C|downstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000480267|retained_intron||||||||||rs62639985|2318|1||SNV|HGNC|HGNC:25284||||3||||||||||||||0.0162|0.003|0.0187|0|0.0378|0.0266|0.02734|0.006975|0.01271|0.02834|0|0.0229|0.04176|0.02959|0.02205|0.02769|0.007529|0.07599|0.01996|0.02535|0|0.02342|0.02848|0.04429|0.02153|0.02567|0.07599|gnomADg_AMI|||||||||||||,C|synonymous_variant|LOW|PLEKHN1|ENSG00000187583|Transcript|ENST00000491024|protein_coding|2/5||ENST00000491024.1:c.138T>C|ENSP00000462558.1:p.Ser46%3D|138|138|46|S|agT/agC|rs62639985||1|cds_start_NF|SNV|HGNC|HGNC:25284||||3|||ENSP00000462558||J3KSM5.48|UPI000268AE1F||||||||0.0162|0.003|0.0187|0|0.0378|0.0266|0.02734|0.006975|0.01271|0.02834|0|0.0229|0.04176|0.02959|0.02205|0.02769|0.007529|0.07599|0.01996|0.02535|0|0.02342|0.02848|0.04429|0.02153|0.02567|0.07599|gnomADg_AMI|||||||||||SLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|downstream_gene_variant|MODIFIER|PERM1|ENSG00000187642|Transcript|ENST00000694917|protein_coding||||||||||rs62639985|2280|-1||SNV|HGNC|HGNC:28208|||||P3|CCDS76083.1|ENSP00000511592|Q5SV97.110||UPI0003E30FA7|Q5SV97-1|||||||0.0162|0.003|0.0187|0|0.0378|0.0266|0.02734|0.006975|0.01271|0.02834|0|0.0229|0.04176|0.02959|0.02205|0.02769|0.007529|0.07599|0.01996|0.02535|0|0.02342|0.02848|0.04429|0.02153|0.02567|0.07599|gnomADg_AMI|||||||||||MENFQYSVQLSDQDWAEFSATADECGLLQAGLASGDELLSSDIDQGDSSGSSPPRAPPLPTGQLAAGGRSRRGCEEEDVATQQPVSRSQGEPVLALGTGQQTPSTSARAEAPPSLGPGASPPSQFSSCPGPASSGDQMQRLLQGPAPRPPGEPPGSPKSPGHSTGSQRPPDSPGAPPRSPSRKKRRAVGAKGGGHTGASASAQTGSPLLPAASPETAKLMAKAGQEELGPGPAGAPEPGPRSPVQEDRPGPGLGLSTPVPVTEQGTDQIRTPRRAKLHTVSTTVWEALPDVSRAKSDMAVSTPASEPQPDRDMAVSTPASEPQSDRDMAVSTPASEPQPDTDMAVSTPASEPQPDRDMAVSIPASKPQSDTAVSTPASEPQSSVALSTPISKPQLDTDVAVSTPASKHGLDVALPTAGPVAKLEVASSPPVSEAVPRMTESSGLVSTPVPRADAAGLAWPPTRRAGPDVVEMEAVVSEPSAGAPGCCSGAPALGLTQVPRKKKVRFSVAGPSPNKPGSGQASARPSAPQTATGAHGGPGAWEAVAVGPRPHQPRILKHLPRPPPSAVTRVGPGSSFAVTLPEAYEFFFCDTIEENEEAEAAAAGQDPAGVQWPDMCEFFFPDVGAQRSRRRGSPEPLPRADPVPAPIPGDPVPISIPEVYEHFFFGEDRLEGVLGPAVPLPLQALEPPRSASEGAGPGTPLKPAVVERLHLALRRAGELRGPVPSFAFSQNDMCLVFVAFATWAVRTSDPHTPDAWKTALLANVGTISAIRYFRRQVGQGRRSHSPSPSS|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 973929 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C1;DP=4;ECNT=1;GERMQ=37;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=115;POPAF=7.3;TLOD=6.98;SRC=snv;GRP=s001;CSQ=C|downstream_gene_variant|MODIFIER|PERM1|ENSG00000187642|Transcript|ENST00000341290|protein_coding||||||||||rs3829738&COSV58021392|1275|-1||SNV|HGNC|HGNC:28208||||2|A2|CCDS90836.1|ENSP00000343864|Q5SV97.110||UPI000022DAF4|Q5SV97-3|||||||0.2542|0.239|0.2248|0.2758|0.1839|0.3456|0.222|0.2551|0.2225|0.2067|0.2569|0.2126|0.1829|0.2387|0.3318|0.2151|0.2519|0.2945|0.2079|0.1954|0.2501|0.2119|0.2816|0.1825|0.2316|0.3371|0.3456|SAS||0&1|1&1|33510632&31562340|||||||MEPRGGGSSQFSSCPGPASSGDQMQRLLQGPAPRPPGEPPGSPKSPGHSTGSQRPPDSPGAPPRSPSRKKRRAVGAKGGGHTGASASAQTGSPLLPAASPETAKLMAKAGQEELGPGPAGAPEPGPRSPVQEDRPGPGLGLSTPVPVTEQGTDQIRTPRRAKLHTVSTTVWEALPDVSRAKSDMAVSTPASEPQPDRDMAVSTPASEPQSDRDMAVSTPASEPQPDTDMAVSTPASEPQPDRDMAVSIPASKPQSDTAVSTPASEPQSSVALSTPISKPQLDTDVAVSTPASKHGLDVALPTAGPVAKLEVASSPPVSEAVPRMTESSGLVSTPVPRADAAGLAWPPTRRAGPDVVEMEAVVSEPSAGAPGCCSGAPALGLTQVPRKKKVRFSVAGPSPNKPGSGQASARPSAPQTATGAHGGPGAWEAVAVGPRPHQPRILKHLPRPPPSAVTRVGPGSSFAVTLPEAYEFFFCDTIEENEEAEAAAAGQDPAGVQWPDMCEFFFPDVGAQRSRRRGSPEPLPRADPVPAPIPGDPVPISIPEVYEHFFFGEDRLEGVLGPAVPLPLQALEPPRSASEGAGPGTPLKPAVVERLHLALRRAGELRGPVPSFAFSQNDMCLVFVAFATWAVRTSDPHTPDAWKTALLANVGTISAIRYFRRQVGQGRRSHSPSPSS||,C|missense_variant|MODERATE|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding|13/15||ENST00000379407.7:c.1426T>C|ENSP00000368717.2:p.Ser476Pro|1456|1426|476|S/P|Tcc/Ccc|rs3829738&COSV58021392||1||SNV|HGNC|HGNC:25284||||1|A2|CCDS53256.1|ENSP00000368717|Q494U1.135||UPI00005764FF|Q494U1-3||tolerated(0.17)|benign(0.003)||||0.2542|0.239|0.2248|0.2758|0.1839|0.3456|0.222|0.2551|0.2225|0.2067|0.2569|0.2126|0.1829|0.2387|0.3318|0.2151|0.2519|0.2945|0.2079|0.1954|0.2501|0.2119|0.2816|0.1825|0.2316|0.3371|0.3456|SAS||0&1|1&1|33510632&31562340|||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|missense_variant|MODERATE|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding|13/15||ENST00000379409.6:c.1687T>C|ENSP00000368719.2:p.Ser563Pro|1717|1687|563|S/P|Tcc/Ccc|rs3829738&COSV58021392||1||SNV|HGNC|HGNC:25284||||2|A2|CCDS90835.1|ENSP00000368719|Q494U1.135||UPI0000D61E06|Q494U1-2||tolerated(0.17)|benign(0)||||0.2542|0.239|0.2248|0.2758|0.1839|0.3456|0.222|0.2551|0.2225|0.2067|0.2569|0.2126|0.1829|0.2387|0.3318|0.2151|0.2519|0.2945|0.2079|0.1954|0.2501|0.2119|0.2816|0.1825|0.2316|0.3371|0.3456|SAS||0&1|1&1|33510632&31562340|||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGVWDASRAPRGTPDPGLGEGPALWLRSTCVYVCALSALPAGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|missense_variant|MODERATE|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding|14/16||ENST00000379410.8:c.1531T>C|ENSP00000368720.3:p.Ser511Pro|1581|1531|511|S/P|Tcc/Ccc|rs3829738&COSV58021392||1||SNV|HGNC|HGNC:25284|YES|NM_032129.3||1|P4|CCDS4.1|ENSP00000368720|Q494U1.135||UPI00001416D8|Q494U1-1||tolerated(0.16)|benign(0)||||0.2542|0.239|0.2248|0.2758|0.1839|0.3456|0.222|0.2551|0.2225|0.2067|0.2569|0.2126|0.1829|0.2387|0.3318|0.2151|0.2519|0.2945|0.2079|0.1954|0.2501|0.2119|0.2816|0.1825|0.2316|0.3371|0.3456|SAS||0&1|1&1|33510632&31562340|||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|downstream_gene_variant|MODIFIER|PERM1|ENSG00000187642|Transcript|ENST00000433179|protein_coding||||||||||rs3829738&COSV58021392|1269|-1||SNV|HGNC|HGNC:28208|YES|NM_001394713.1||5|P3|CCDS76083.1|ENSP00000414022|Q5SV97.110||UPI0003E30FA7|Q5SV97-1|||||||0.2542|0.239|0.2248|0.2758|0.1839|0.3456|0.222|0.2551|0.2225|0.2067|0.2569|0.2126|0.1829|0.2387|0.3318|0.2151|0.2519|0.2945|0.2079|0.1954|0.2501|0.2119|0.2816|0.1825|0.2316|0.3371|0.3456|SAS||0&1|1&1|33510632&31562340|||||||MENFQYSVQLSDQDWAEFSATADECGLLQAGLASGDELLSSDIDQGDSSGSSPPRAPPLPTGQLAAGGRSRRGCEEEDVATQQPVSRSQGEPVLALGTGQQTPSTSARAEAPPSLGPGASPPSQFSSCPGPASSGDQMQRLLQGPAPRPPGEPPGSPKSPGHSTGSQRPPDSPGAPPRSPSRKKRRAVGAKGGGHTGASASAQTGSPLLPAASPETAKLMAKAGQEELGPGPAGAPEPGPRSPVQEDRPGPGLGLSTPVPVTEQGTDQIRTPRRAKLHTVSTTVWEALPDVSRAKSDMAVSTPASEPQPDRDMAVSTPASEPQSDRDMAVSTPASEPQPDTDMAVSTPASEPQPDRDMAVSIPASKPQSDTAVSTPASEPQSSVALSTPISKPQLDTDVAVSTPASKHGLDVALPTAGPVAKLEVASSPPVSEAVPRMTESSGLVSTPVPRADAAGLAWPPTRRAGPDVVEMEAVVSEPSAGAPGCCSGAPALGLTQVPRKKKVRFSVAGPSPNKPGSGQASARPSAPQTATGAHGGPGAWEAVAVGPRPHQPRILKHLPRPPPSAVTRVGPGSSFAVTLPEAYEFFFCDTIEENEEAEAAAAGQDPAGVQWPDMCEFFFPDVGAQRSRRRGSPEPLPRADPVPAPIPGDPVPISIPEVYEHFFFGEDRLEGVLGPAVPLPLQALEPPRSASEGAGPGTPLKPAVVERLHLALRRAGELRGPVPSFAFSQNDMCLVFVAFATWAVRTSDPHTPDAWKTALLANVGTISAIRYFRRQVGQGRRSHSPSPSS||,C|downstream_gene_variant|MODIFIER|PERM1|ENSG00000187642|Transcript|ENST00000479361|retained_intron||||||||||rs3829738&COSV58021392|1276|-1||SNV|HGNC|HGNC:28208||||1||||||||||||||0.2542|0.239|0.2248|0.2758|0.1839|0.3456|0.222|0.2551|0.2225|0.2067|0.2569|0.2126|0.1829|0.2387|0.3318|0.2151|0.2519|0.2945|0.2079|0.1954|0.2501|0.2119|0.2816|0.1825|0.2316|0.3371|0.3456|SAS||0&1|1&1|33510632&31562340|||||||||,C|downstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000480267|retained_intron||||||||||rs3829738&COSV58021392|2406|1||SNV|HGNC|HGNC:25284||||3||||||||||||||0.2542|0.239|0.2248|0.2758|0.1839|0.3456|0.222|0.2551|0.2225|0.2067|0.2569|0.2126|0.1829|0.2387|0.3318|0.2151|0.2519|0.2945|0.2079|0.1954|0.2501|0.2119|0.2816|0.1825|0.2316|0.3371|0.3456|SAS||0&1|1&1|33510632&31562340|||||||||,C|missense_variant|MODERATE|PLEKHN1|ENSG00000187583|Transcript|ENST00000491024|protein_coding|2/5||ENST00000491024.1:c.226T>C|ENSP00000462558.1:p.Ser76Pro|226|226|76|S/P|Tcc/Ccc|rs3829738&COSV58021392||1|cds_start_NF|SNV|HGNC|HGNC:25284||||3|||ENSP00000462558||J3KSM5.48|UPI000268AE1F|||tolerated(0.2)|benign(0)||||0.2542|0.239|0.2248|0.2758|0.1839|0.3456|0.222|0.2551|0.2225|0.2067|0.2569|0.2126|0.1829|0.2387|0.3318|0.2151|0.2519|0.2945|0.2079|0.1954|0.2501|0.2119|0.2816|0.1825|0.2316|0.3371|0.3456|SAS||0&1|1&1|33510632&31562340|||||||SLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|downstream_gene_variant|MODIFIER|PERM1|ENSG00000187642|Transcript|ENST00000694917|protein_coding||||||||||rs3829738&COSV58021392|2192|-1||SNV|HGNC|HGNC:28208|||||P3|CCDS76083.1|ENSP00000511592|Q5SV97.110||UPI0003E30FA7|Q5SV97-1|||||||0.2542|0.239|0.2248|0.2758|0.1839|0.3456|0.222|0.2551|0.2225|0.2067|0.2569|0.2126|0.1829|0.2387|0.3318|0.2151|0.2519|0.2945|0.2079|0.1954|0.2501|0.2119|0.2816|0.1825|0.2316|0.3371|0.3456|SAS||0&1|1&1|33510632&31562340|||||||MENFQYSVQLSDQDWAEFSATADECGLLQAGLASGDELLSSDIDQGDSSGSSPPRAPPLPTGQLAAGGRSRRGCEEEDVATQQPVSRSQGEPVLALGTGQQTPSTSARAEAPPSLGPGASPPSQFSSCPGPASSGDQMQRLLQGPAPRPPGEPPGSPKSPGHSTGSQRPPDSPGAPPRSPSRKKRRAVGAKGGGHTGASASAQTGSPLLPAASPETAKLMAKAGQEELGPGPAGAPEPGPRSPVQEDRPGPGLGLSTPVPVTEQGTDQIRTPRRAKLHTVSTTVWEALPDVSRAKSDMAVSTPASEPQPDRDMAVSTPASEPQSDRDMAVSTPASEPQPDTDMAVSTPASEPQPDRDMAVSIPASKPQSDTAVSTPASEPQSSVALSTPISKPQLDTDVAVSTPASKHGLDVALPTAGPVAKLEVASSPPVSEAVPRMTESSGLVSTPVPRADAAGLAWPPTRRAGPDVVEMEAVVSEPSAGAPGCCSGAPALGLTQVPRKKKVRFSVAGPSPNKPGSGQASARPSAPQTATGAHGGPGAWEAVAVGPRPHQPRILKHLPRPPPSAVTRVGPGSSFAVTLPEAYEFFFCDTIEENEEAEAAAAGQDPAGVQWPDMCEFFFPDVGAQRSRRRGSPEPLPRADPVPAPIPGDPVPISIPEVYEHFFFGEDRLEGVLGPAVPLPLQALEPPRSASEGAGPGTPLKPAVVERLHLALRRAGELRGPVPSFAFSQNDMCLVFVAFATWAVRTSDPHTPDAWKTALLANVGTISAIRYFRRQVGQGRRSHSPSPSS|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.5:4:0,0:1,1:1,1:1,1,1,1 -chr1 974388 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=110;POPAF=7.3;TLOD=7.05;SRC=snv;GRP=s001;CSQ=G|downstream_gene_variant|MODIFIER|PERM1|ENSG00000187642|Transcript|ENST00000341290|protein_coding||||||||||rs2340593|816|-1||SNV|HGNC|HGNC:28208||||2|A2|CCDS90836.1|ENSP00000343864|Q5SV97.110||UPI000022DAF4|Q5SV97-3|||||||0.9996|0.9985|1|1|1|1|1|0.9994|1|1|1|1|1|1|1|0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AMR&EAS&EUR&SAS&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||MEPRGGGSSQFSSCPGPASSGDQMQRLLQGPAPRPPGEPPGSPKSPGHSTGSQRPPDSPGAPPRSPSRKKRRAVGAKGGGHTGASASAQTGSPLLPAASPETAKLMAKAGQEELGPGPAGAPEPGPRSPVQEDRPGPGLGLSTPVPVTEQGTDQIRTPRRAKLHTVSTTVWEALPDVSRAKSDMAVSTPASEPQPDRDMAVSTPASEPQSDRDMAVSTPASEPQPDTDMAVSTPASEPQPDRDMAVSIPASKPQSDTAVSTPASEPQSSVALSTPISKPQLDTDVAVSTPASKHGLDVALPTAGPVAKLEVASSPPVSEAVPRMTESSGLVSTPVPRADAAGLAWPPTRRAGPDVVEMEAVVSEPSAGAPGCCSGAPALGLTQVPRKKKVRFSVAGPSPNKPGSGQASARPSAPQTATGAHGGPGAWEAVAVGPRPHQPRILKHLPRPPPSAVTRVGPGSSFAVTLPEAYEFFFCDTIEENEEAEAAAAGQDPAGVQWPDMCEFFFPDVGAQRSRRRGSPEPLPRADPVPAPIPGDPVPISIPEVYEHFFFGEDRLEGVLGPAVPLPLQALEPPRSASEGAGPGTPLKPAVVERLHLALRRAGELRGPVPSFAFSQNDMCLVFVAFATWAVRTSDPHTPDAWKTALLANVGTISAIRYFRRQVGQGRRSHSPSPSS||,G|intron_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding||14/14|ENST00000379407.7:c.1597+24A>G|||||||rs2340593||1||SNV|HGNC|HGNC:25284||||1|A2|CCDS53256.1|ENSP00000368717|Q494U1.135||UPI00005764FF|Q494U1-3|||||||0.9996|0.9985|1|1|1|1|1|0.9994|1|1|1|1|1|1|1|0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AMR&EAS&EUR&SAS&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,G|intron_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding||14/14|ENST00000379409.6:c.1858+24A>G|||||||rs2340593||1||SNV|HGNC|HGNC:25284||||2|A2|CCDS90835.1|ENSP00000368719|Q494U1.135||UPI0000D61E06|Q494U1-2|||||||0.9996|0.9985|1|1|1|1|1|0.9994|1|1|1|1|1|1|1|0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AMR&EAS&EUR&SAS&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGVWDASRAPRGTPDPGLGEGPALWLRSTCVYVCALSALPAGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,G|intron_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding||15/15|ENST00000379410.8:c.1702+24A>G|||||||rs2340593||1||SNV|HGNC|HGNC:25284|YES|NM_032129.3||1|P4|CCDS4.1|ENSP00000368720|Q494U1.135||UPI00001416D8|Q494U1-1|||||||0.9996|0.9985|1|1|1|1|1|0.9994|1|1|1|1|1|1|1|0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AMR&EAS&EUR&SAS&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,G|downstream_gene_variant|MODIFIER|PERM1|ENSG00000187642|Transcript|ENST00000433179|protein_coding||||||||||rs2340593|810|-1||SNV|HGNC|HGNC:28208|YES|NM_001394713.1||5|P3|CCDS76083.1|ENSP00000414022|Q5SV97.110||UPI0003E30FA7|Q5SV97-1|||||||0.9996|0.9985|1|1|1|1|1|0.9994|1|1|1|1|1|1|1|0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AMR&EAS&EUR&SAS&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||MENFQYSVQLSDQDWAEFSATADECGLLQAGLASGDELLSSDIDQGDSSGSSPPRAPPLPTGQLAAGGRSRRGCEEEDVATQQPVSRSQGEPVLALGTGQQTPSTSARAEAPPSLGPGASPPSQFSSCPGPASSGDQMQRLLQGPAPRPPGEPPGSPKSPGHSTGSQRPPDSPGAPPRSPSRKKRRAVGAKGGGHTGASASAQTGSPLLPAASPETAKLMAKAGQEELGPGPAGAPEPGPRSPVQEDRPGPGLGLSTPVPVTEQGTDQIRTPRRAKLHTVSTTVWEALPDVSRAKSDMAVSTPASEPQPDRDMAVSTPASEPQSDRDMAVSTPASEPQPDTDMAVSTPASEPQPDRDMAVSIPASKPQSDTAVSTPASEPQSSVALSTPISKPQLDTDVAVSTPASKHGLDVALPTAGPVAKLEVASSPPVSEAVPRMTESSGLVSTPVPRADAAGLAWPPTRRAGPDVVEMEAVVSEPSAGAPGCCSGAPALGLTQVPRKKKVRFSVAGPSPNKPGSGQASARPSAPQTATGAHGGPGAWEAVAVGPRPHQPRILKHLPRPPPSAVTRVGPGSSFAVTLPEAYEFFFCDTIEENEEAEAAAAGQDPAGVQWPDMCEFFFPDVGAQRSRRRGSPEPLPRADPVPAPIPGDPVPISIPEVYEHFFFGEDRLEGVLGPAVPLPLQALEPPRSASEGAGPGTPLKPAVVERLHLALRRAGELRGPVPSFAFSQNDMCLVFVAFATWAVRTSDPHTPDAWKTALLANVGTISAIRYFRRQVGQGRRSHSPSPSS||,G|downstream_gene_variant|MODIFIER|PERM1|ENSG00000187642|Transcript|ENST00000479361|retained_intron||||||||||rs2340593|817|-1||SNV|HGNC|HGNC:28208||||1||||||||||||||0.9996|0.9985|1|1|1|1|1|0.9994|1|1|1|1|1|1|1|0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AMR&EAS&EUR&SAS&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|downstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000480267|retained_intron||||||||||rs2340593|2865|1||SNV|HGNC|HGNC:25284||||3||||||||||||||0.9996|0.9985|1|1|1|1|1|0.9994|1|1|1|1|1|1|1|0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AMR&EAS&EUR&SAS&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|intron_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000491024|protein_coding||3/4|ENST00000491024.1:c.397+24A>G|||||||rs2340593||1|cds_start_NF|SNV|HGNC|HGNC:25284||||3|||ENSP00000462558||J3KSM5.48|UPI000268AE1F||||||||0.9996|0.9985|1|1|1|1|1|0.9994|1|1|1|1|1|1|1|0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AMR&EAS&EUR&SAS&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||SLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,G|downstream_gene_variant|MODIFIER|PERM1|ENSG00000187642|Transcript|ENST00000694917|protein_coding||||||||||rs2340593|1733|-1||SNV|HGNC|HGNC:28208|||||P3|CCDS76083.1|ENSP00000511592|Q5SV97.110||UPI0003E30FA7|Q5SV97-1|||||||0.9996|0.9985|1|1|1|1|1|0.9994|1|1|1|1|1|1|1|0.9999|0.9997|1|1|1|1|1|1|1|1|1|1|AMR&EAS&EUR&SAS&gnomADe_AMR&gnomADe_ASJ&gnomADe_EAS&gnomADe_FIN&gnomADe_NFE&gnomADe_OTH&gnomADe_SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||MENFQYSVQLSDQDWAEFSATADECGLLQAGLASGDELLSSDIDQGDSSGSSPPRAPPLPTGQLAAGGRSRRGCEEEDVATQQPVSRSQGEPVLALGTGQQTPSTSARAEAPPSLGPGASPPSQFSSCPGPASSGDQMQRLLQGPAPRPPGEPPGSPKSPGHSTGSQRPPDSPGAPPRSPSRKKRRAVGAKGGGHTGASASAQTGSPLLPAASPETAKLMAKAGQEELGPGPAGAPEPGPRSPVQEDRPGPGLGLSTPVPVTEQGTDQIRTPRRAKLHTVSTTVWEALPDVSRAKSDMAVSTPASEPQPDRDMAVSTPASEPQSDRDMAVSTPASEPQPDTDMAVSTPASEPQPDRDMAVSIPASKPQSDTAVSTPASEPQSSVALSTPISKPQLDTDVAVSTPASKHGLDVALPTAGPVAKLEVASSPPVSEAVPRMTESSGLVSTPVPRADAAGLAWPPTRRAGPDVVEMEAVVSEPSAGAPGCCSGAPALGLTQVPRKKKVRFSVAGPSPNKPGSGQASARPSAPQTATGAHGGPGAWEAVAVGPRPHQPRILKHLPRPPPSAVTRVGPGSSFAVTLPEAYEFFFCDTIEENEEAEAAAAGQDPAGVQWPDMCEFFFPDVGAQRSRRRGSPEPLPRADPVPAPIPGDPVPISIPEVYEHFFFGEDRLEGVLGPAVPLPLQALEPPRSASEGAGPGTPLKPAVVERLHLALRRAGELRGPVPSFAFSQNDMCLVFVAFATWAVRTSDPHTPDAWKTALLANVGTISAIRYFRRQVGQGRRSHSPSPSS|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 975139 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=67;POPAF=7.3;TLOD=3.25;SRC=snv;GRP=s001;CSQ=T|downstream_gene_variant|MODIFIER|PERM1|ENSG00000187642|Transcript|ENST00000341290|protein_coding|||||||||||65|-1||SNV|HGNC|HGNC:28208||||2|A2|CCDS90836.1|ENSP00000343864|Q5SV97.110||UPI000022DAF4|Q5SV97-3|||||||||||||||||||||||||||||||||||||||||||||MEPRGGGSSQFSSCPGPASSGDQMQRLLQGPAPRPPGEPPGSPKSPGHSTGSQRPPDSPGAPPRSPSRKKRRAVGAKGGGHTGASASAQTGSPLLPAASPETAKLMAKAGQEELGPGPAGAPEPGPRSPVQEDRPGPGLGLSTPVPVTEQGTDQIRTPRRAKLHTVSTTVWEALPDVSRAKSDMAVSTPASEPQPDRDMAVSTPASEPQSDRDMAVSTPASEPQPDTDMAVSTPASEPQPDRDMAVSIPASKPQSDTAVSTPASEPQSSVALSTPISKPQLDTDVAVSTPASKHGLDVALPTAGPVAKLEVASSPPVSEAVPRMTESSGLVSTPVPRADAAGLAWPPTRRAGPDVVEMEAVVSEPSAGAPGCCSGAPALGLTQVPRKKKVRFSVAGPSPNKPGSGQASARPSAPQTATGAHGGPGAWEAVAVGPRPHQPRILKHLPRPPPSAVTRVGPGSSFAVTLPEAYEFFFCDTIEENEEAEAAAAGQDPAGVQWPDMCEFFFPDVGAQRSRRRGSPEPLPRADPVPAPIPGDPVPISIPEVYEHFFFGEDRLEGVLGPAVPLPLQALEPPRSASEGAGPGTPLKPAVVERLHLALRRAGELRGPVPSFAFSQNDMCLVFVAFATWAVRTSDPHTPDAWKTALLANVGTISAIRYFRRQVGQGRRSHSPSPSS||,T|downstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding|||||||||||131|1||SNV|HGNC|HGNC:25284||||1|A2|CCDS53256.1|ENSP00000368717|Q494U1.135||UPI00005764FF|Q494U1-3|||||||||||||||||||||||||||||||||||||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,T|downstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding|||||||||||131|1||SNV|HGNC|HGNC:25284||||2|A2|CCDS90835.1|ENSP00000368719|Q494U1.135||UPI0000D61E06|Q494U1-2|||||||||||||||||||||||||||||||||||||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGVWDASRAPRGTPDPGLGEGPALWLRSTCVYVCALSALPAGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,T|3_prime_UTR_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding|16/16||ENST00000379410.8:c.*564G>T||2450|||||||1||SNV|HGNC|HGNC:25284|YES|NM_032129.3||1|P4|CCDS4.1|ENSP00000368720|Q494U1.135||UPI00001416D8|Q494U1-1|||||||||||||||||||||||||||||||||||||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,T|downstream_gene_variant|MODIFIER|PERM1|ENSG00000187642|Transcript|ENST00000433179|protein_coding|||||||||||59|-1||SNV|HGNC|HGNC:28208|YES|NM_001394713.1||5|P3|CCDS76083.1|ENSP00000414022|Q5SV97.110||UPI0003E30FA7|Q5SV97-1|||||||||||||||||||||||||||||||||||||||||||||MENFQYSVQLSDQDWAEFSATADECGLLQAGLASGDELLSSDIDQGDSSGSSPPRAPPLPTGQLAAGGRSRRGCEEEDVATQQPVSRSQGEPVLALGTGQQTPSTSARAEAPPSLGPGASPPSQFSSCPGPASSGDQMQRLLQGPAPRPPGEPPGSPKSPGHSTGSQRPPDSPGAPPRSPSRKKRRAVGAKGGGHTGASASAQTGSPLLPAASPETAKLMAKAGQEELGPGPAGAPEPGPRSPVQEDRPGPGLGLSTPVPVTEQGTDQIRTPRRAKLHTVSTTVWEALPDVSRAKSDMAVSTPASEPQPDRDMAVSTPASEPQSDRDMAVSTPASEPQPDTDMAVSTPASEPQPDRDMAVSIPASKPQSDTAVSTPASEPQSSVALSTPISKPQLDTDVAVSTPASKHGLDVALPTAGPVAKLEVASSPPVSEAVPRMTESSGLVSTPVPRADAAGLAWPPTRRAGPDVVEMEAVVSEPSAGAPGCCSGAPALGLTQVPRKKKVRFSVAGPSPNKPGSGQASARPSAPQTATGAHGGPGAWEAVAVGPRPHQPRILKHLPRPPPSAVTRVGPGSSFAVTLPEAYEFFFCDTIEENEEAEAAAAGQDPAGVQWPDMCEFFFPDVGAQRSRRRGSPEPLPRADPVPAPIPGDPVPISIPEVYEHFFFGEDRLEGVLGPAVPLPLQALEPPRSASEGAGPGTPLKPAVVERLHLALRRAGELRGPVPSFAFSQNDMCLVFVAFATWAVRTSDPHTPDAWKTALLANVGTISAIRYFRRQVGQGRRSHSPSPSS||,T|downstream_gene_variant|MODIFIER|PERM1|ENSG00000187642|Transcript|ENST00000479361|retained_intron|||||||||||66|-1||SNV|HGNC|HGNC:28208||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000480267|retained_intron|||||||||||3616|1||SNV|HGNC|HGNC:25284||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000491024|protein_coding||4/4|ENST00000491024.1:c.*13+551G>T|||||||||1|cds_start_NF|SNV|HGNC|HGNC:25284||||3|||ENSP00000462558||J3KSM5.48|UPI000268AE1F||||||||||||||||||||||||||||||||||||||||||||||SLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,T|downstream_gene_variant|MODIFIER|PERM1|ENSG00000187642|Transcript|ENST00000694917|protein_coding|||||||||||982|-1||SNV|HGNC|HGNC:28208|||||P3|CCDS76083.1|ENSP00000511592|Q5SV97.110||UPI0003E30FA7|Q5SV97-1|||||||||||||||||||||||||||||||||||||||||||||MENFQYSVQLSDQDWAEFSATADECGLLQAGLASGDELLSSDIDQGDSSGSSPPRAPPLPTGQLAAGGRSRRGCEEEDVATQQPVSRSQGEPVLALGTGQQTPSTSARAEAPPSLGPGASPPSQFSSCPGPASSGDQMQRLLQGPAPRPPGEPPGSPKSPGHSTGSQRPPDSPGAPPRSPSRKKRRAVGAKGGGHTGASASAQTGSPLLPAASPETAKLMAKAGQEELGPGPAGAPEPGPRSPVQEDRPGPGLGLSTPVPVTEQGTDQIRTPRRAKLHTVSTTVWEALPDVSRAKSDMAVSTPASEPQPDRDMAVSTPASEPQSDRDMAVSTPASEPQPDTDMAVSTPASEPQPDRDMAVSIPASKPQSDTAVSTPASEPQSSVALSTPISKPQLDTDVAVSTPASKHGLDVALPTAGPVAKLEVASSPPVSEAVPRMTESSGLVSTPVPRADAAGLAWPPTRRAGPDVVEMEAVVSEPSAGAPGCCSGAPALGLTQVPRKKKVRFSVAGPSPNKPGSGQASARPSAPQTATGAHGGPGAWEAVAVGPRPHQPRILKHLPRPPPSAVTRVGPGSSFAVTLPEAYEFFFCDTIEENEEAEAAAAGQDPAGVQWPDMCEFFFPDVGAQRSRRRGSPEPLPRADPVPAPIPGDPVPISIPEVYEHFFFGEDRLEGVLGPAVPLPLQALEPPRSASEGAGPGTPLKPAVVERLHLALRRAGELRGPVPSFAFSQNDMCLVFVAFATWAVRTSDPHTPDAWKTALLANVGTISAIRYFRRQVGQGRRSHSPSPSS|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 975447 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=4%2C2|1%2C2;DP=9;ECNT=3;GERMQ=39;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=136;POPAF=7.3;TLOD=6.28;SRC=snv;GRP=s001;CSQ=C|3_prime_UTR_variant|MODIFIER|PERM1|ENSG00000187642|Transcript|ENST00000341290|protein_coding|5/5||ENST00000341290.6:c.*725A>G||2792|||||||-1||SNV|HGNC|HGNC:28208||||2|A2|CCDS90836.1|ENSP00000343864|Q5SV97.110||UPI000022DAF4|Q5SV97-3|||||||||||||||||||||||||||||||||||||||||||||MEPRGGGSSQFSSCPGPASSGDQMQRLLQGPAPRPPGEPPGSPKSPGHSTGSQRPPDSPGAPPRSPSRKKRRAVGAKGGGHTGASASAQTGSPLLPAASPETAKLMAKAGQEELGPGPAGAPEPGPRSPVQEDRPGPGLGLSTPVPVTEQGTDQIRTPRRAKLHTVSTTVWEALPDVSRAKSDMAVSTPASEPQPDRDMAVSTPASEPQSDRDMAVSTPASEPQPDTDMAVSTPASEPQPDRDMAVSIPASKPQSDTAVSTPASEPQSSVALSTPISKPQLDTDVAVSTPASKHGLDVALPTAGPVAKLEVASSPPVSEAVPRMTESSGLVSTPVPRADAAGLAWPPTRRAGPDVVEMEAVVSEPSAGAPGCCSGAPALGLTQVPRKKKVRFSVAGPSPNKPGSGQASARPSAPQTATGAHGGPGAWEAVAVGPRPHQPRILKHLPRPPPSAVTRVGPGSSFAVTLPEAYEFFFCDTIEENEEAEAAAAGQDPAGVQWPDMCEFFFPDVGAQRSRRRGSPEPLPRADPVPAPIPGDPVPISIPEVYEHFFFGEDRLEGVLGPAVPLPLQALEPPRSASEGAGPGTPLKPAVVERLHLALRRAGELRGPVPSFAFSQNDMCLVFVAFATWAVRTSDPHTPDAWKTALLANVGTISAIRYFRRQVGQGRRSHSPSPSS||,C|downstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding|||||||||||439|1||SNV|HGNC|HGNC:25284||||1|A2|CCDS53256.1|ENSP00000368717|Q494U1.135||UPI00005764FF|Q494U1-3|||||||||||||||||||||||||||||||||||||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|downstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding|||||||||||439|1||SNV|HGNC|HGNC:25284||||2|A2|CCDS90835.1|ENSP00000368719|Q494U1.135||UPI0000D61E06|Q494U1-2|||||||||||||||||||||||||||||||||||||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGVWDASRAPRGTPDPGLGEGPALWLRSTCVYVCALSALPAGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|3_prime_UTR_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding|16/16||ENST00000379410.8:c.*872T>C||2758|||||||1||SNV|HGNC|HGNC:25284|YES|NM_032129.3||1|P4|CCDS4.1|ENSP00000368720|Q494U1.135||UPI00001416D8|Q494U1-1|||||||||||||||||||||||||||||||||||||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|3_prime_UTR_variant|MODIFIER|PERM1|ENSG00000187642|Transcript|ENST00000433179|protein_coding|4/4||ENST00000433179.4:c.*725A>G||3271|||||||-1||SNV|HGNC|HGNC:28208|YES|NM_001394713.1||5|P3|CCDS76083.1|ENSP00000414022|Q5SV97.110||UPI0003E30FA7|Q5SV97-1|||||||||||||||||||||||||||||||||||||||||||||MENFQYSVQLSDQDWAEFSATADECGLLQAGLASGDELLSSDIDQGDSSGSSPPRAPPLPTGQLAAGGRSRRGCEEEDVATQQPVSRSQGEPVLALGTGQQTPSTSARAEAPPSLGPGASPPSQFSSCPGPASSGDQMQRLLQGPAPRPPGEPPGSPKSPGHSTGSQRPPDSPGAPPRSPSRKKRRAVGAKGGGHTGASASAQTGSPLLPAASPETAKLMAKAGQEELGPGPAGAPEPGPRSPVQEDRPGPGLGLSTPVPVTEQGTDQIRTPRRAKLHTVSTTVWEALPDVSRAKSDMAVSTPASEPQPDRDMAVSTPASEPQSDRDMAVSTPASEPQPDTDMAVSTPASEPQPDRDMAVSIPASKPQSDTAVSTPASEPQSSVALSTPISKPQLDTDVAVSTPASKHGLDVALPTAGPVAKLEVASSPPVSEAVPRMTESSGLVSTPVPRADAAGLAWPPTRRAGPDVVEMEAVVSEPSAGAPGCCSGAPALGLTQVPRKKKVRFSVAGPSPNKPGSGQASARPSAPQTATGAHGGPGAWEAVAVGPRPHQPRILKHLPRPPPSAVTRVGPGSSFAVTLPEAYEFFFCDTIEENEEAEAAAAGQDPAGVQWPDMCEFFFPDVGAQRSRRRGSPEPLPRADPVPAPIPGDPVPISIPEVYEHFFFGEDRLEGVLGPAVPLPLQALEPPRSASEGAGPGTPLKPAVVERLHLALRRAGELRGPVPSFAFSQNDMCLVFVAFATWAVRTSDPHTPDAWKTALLANVGTISAIRYFRRQVGQGRRSHSPSPSS||,C|non_coding_transcript_exon_variant|MODIFIER|PERM1|ENSG00000187642|Transcript|ENST00000479361|retained_intron|2/2||ENST00000479361.1:n.966A>G||966|||||||-1||SNV|HGNC|HGNC:28208||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000480267|retained_intron|||||||||||3924|1||SNV|HGNC|HGNC:25284||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000491024|protein_coding||4/4|ENST00000491024.1:c.*14-265T>C|||||||||1|cds_start_NF|SNV|HGNC|HGNC:25284||||3|||ENSP00000462558||J3KSM5.48|UPI000268AE1F||||||||||||||||||||||||||||||||||||||||||||||SLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|downstream_gene_variant|MODIFIER|PERM1|ENSG00000187642|Transcript|ENST00000694917|protein_coding|||||||||||674|-1||SNV|HGNC|HGNC:28208|||||P3|CCDS76083.1|ENSP00000511592|Q5SV97.110||UPI0003E30FA7|Q5SV97-1|||||||||||||||||||||||||||||||||||||||||||||MENFQYSVQLSDQDWAEFSATADECGLLQAGLASGDELLSSDIDQGDSSGSSPPRAPPLPTGQLAAGGRSRRGCEEEDVATQQPVSRSQGEPVLALGTGQQTPSTSARAEAPPSLGPGASPPSQFSSCPGPASSGDQMQRLLQGPAPRPPGEPPGSPKSPGHSTGSQRPPDSPGAPPRSPSRKKRRAVGAKGGGHTGASASAQTGSPLLPAASPETAKLMAKAGQEELGPGPAGAPEPGPRSPVQEDRPGPGLGLSTPVPVTEQGTDQIRTPRRAKLHTVSTTVWEALPDVSRAKSDMAVSTPASEPQPDRDMAVSTPASEPQSDRDMAVSTPASEPQPDTDMAVSTPASEPQPDRDMAVSIPASKPQSDTAVSTPASEPQSSVALSTPISKPQLDTDVAVSTPASKHGLDVALPTAGPVAKLEVASSPPVSEAVPRMTESSGLVSTPVPRADAAGLAWPPTRRAGPDVVEMEAVVSEPSAGAPGCCSGAPALGLTQVPRKKKVRFSVAGPSPNKPGSGQASARPSAPQTATGAHGGPGAWEAVAVGPRPHQPRILKHLPRPPPSAVTRVGPGSSFAVTLPEAYEFFFCDTIEENEEAEAAAAGQDPAGVQWPDMCEFFFPDVGAQRSRRRGSPEPLPRADPVPAPIPGDPVPISIPEVYEHFFFGEDRLEGVLGPAVPLPLQALEPPRSASEGAGPGTPLKPAVVERLHLALRRAGELRGPVPSFAFSQNDMCLVFVAFATWAVRTSDPHTPDAWKTALLANVGTISAIRYFRRQVGQGRRSHSPSPSS|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,3:0.286:9:0,0:4,1:4,1:4,2,1,2 -chr1 975523 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=3%2C3|3%2C2;DP=11;ECNT=3;GERMQ=36;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=18;POPAF=7.3;TLOD=16.54;SRC=snv;GRP=s001;CSQ=C|3_prime_UTR_variant|MODIFIER|PERM1|ENSG00000187642|Transcript|ENST00000341290|protein_coding|5/5||ENST00000341290.6:c.*649A>G||2716|||||rs4970429||-1||SNV|HGNC|HGNC:28208||||2|A2|CCDS90836.1|ENSP00000343864|Q5SV97.110||UPI000022DAF4|Q5SV97-3|||||||0.9147|0.7496|0.9409|0.999|0.9592|0.9867||||||||||0.916|0.7787|0.9759|0.9468|0.9237|0.9996|0.9916|0.9335|0.9683|0.924|0.982|0.9996|gnomADg_EAS|||||||||||MEPRGGGSSQFSSCPGPASSGDQMQRLLQGPAPRPPGEPPGSPKSPGHSTGSQRPPDSPGAPPRSPSRKKRRAVGAKGGGHTGASASAQTGSPLLPAASPETAKLMAKAGQEELGPGPAGAPEPGPRSPVQEDRPGPGLGLSTPVPVTEQGTDQIRTPRRAKLHTVSTTVWEALPDVSRAKSDMAVSTPASEPQPDRDMAVSTPASEPQSDRDMAVSTPASEPQPDTDMAVSTPASEPQPDRDMAVSIPASKPQSDTAVSTPASEPQSSVALSTPISKPQLDTDVAVSTPASKHGLDVALPTAGPVAKLEVASSPPVSEAVPRMTESSGLVSTPVPRADAAGLAWPPTRRAGPDVVEMEAVVSEPSAGAPGCCSGAPALGLTQVPRKKKVRFSVAGPSPNKPGSGQASARPSAPQTATGAHGGPGAWEAVAVGPRPHQPRILKHLPRPPPSAVTRVGPGSSFAVTLPEAYEFFFCDTIEENEEAEAAAAGQDPAGVQWPDMCEFFFPDVGAQRSRRRGSPEPLPRADPVPAPIPGDPVPISIPEVYEHFFFGEDRLEGVLGPAVPLPLQALEPPRSASEGAGPGTPLKPAVVERLHLALRRAGELRGPVPSFAFSQNDMCLVFVAFATWAVRTSDPHTPDAWKTALLANVGTISAIRYFRRQVGQGRRSHSPSPSS||,C|downstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding||||||||||rs4970429|515|1||SNV|HGNC|HGNC:25284||||1|A2|CCDS53256.1|ENSP00000368717|Q494U1.135||UPI00005764FF|Q494U1-3|||||||0.9147|0.7496|0.9409|0.999|0.9592|0.9867||||||||||0.916|0.7787|0.9759|0.9468|0.9237|0.9996|0.9916|0.9335|0.9683|0.924|0.982|0.9996|gnomADg_EAS|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|downstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding||||||||||rs4970429|515|1||SNV|HGNC|HGNC:25284||||2|A2|CCDS90835.1|ENSP00000368719|Q494U1.135||UPI0000D61E06|Q494U1-2|||||||0.9147|0.7496|0.9409|0.999|0.9592|0.9867||||||||||0.916|0.7787|0.9759|0.9468|0.9237|0.9996|0.9916|0.9335|0.9683|0.924|0.982|0.9996|gnomADg_EAS|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGVWDASRAPRGTPDPGLGEGPALWLRSTCVYVCALSALPAGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|3_prime_UTR_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding|16/16||ENST00000379410.8:c.*948T>C||2834|||||rs4970429||1||SNV|HGNC|HGNC:25284|YES|NM_032129.3||1|P4|CCDS4.1|ENSP00000368720|Q494U1.135||UPI00001416D8|Q494U1-1|||||||0.9147|0.7496|0.9409|0.999|0.9592|0.9867||||||||||0.916|0.7787|0.9759|0.9468|0.9237|0.9996|0.9916|0.9335|0.9683|0.924|0.982|0.9996|gnomADg_EAS|||||||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|3_prime_UTR_variant|MODIFIER|PERM1|ENSG00000187642|Transcript|ENST00000433179|protein_coding|4/4||ENST00000433179.4:c.*649A>G||3195|||||rs4970429||-1||SNV|HGNC|HGNC:28208|YES|NM_001394713.1||5|P3|CCDS76083.1|ENSP00000414022|Q5SV97.110||UPI0003E30FA7|Q5SV97-1|||||||0.9147|0.7496|0.9409|0.999|0.9592|0.9867||||||||||0.916|0.7787|0.9759|0.9468|0.9237|0.9996|0.9916|0.9335|0.9683|0.924|0.982|0.9996|gnomADg_EAS|||||||||||MENFQYSVQLSDQDWAEFSATADECGLLQAGLASGDELLSSDIDQGDSSGSSPPRAPPLPTGQLAAGGRSRRGCEEEDVATQQPVSRSQGEPVLALGTGQQTPSTSARAEAPPSLGPGASPPSQFSSCPGPASSGDQMQRLLQGPAPRPPGEPPGSPKSPGHSTGSQRPPDSPGAPPRSPSRKKRRAVGAKGGGHTGASASAQTGSPLLPAASPETAKLMAKAGQEELGPGPAGAPEPGPRSPVQEDRPGPGLGLSTPVPVTEQGTDQIRTPRRAKLHTVSTTVWEALPDVSRAKSDMAVSTPASEPQPDRDMAVSTPASEPQSDRDMAVSTPASEPQPDTDMAVSTPASEPQPDRDMAVSIPASKPQSDTAVSTPASEPQSSVALSTPISKPQLDTDVAVSTPASKHGLDVALPTAGPVAKLEVASSPPVSEAVPRMTESSGLVSTPVPRADAAGLAWPPTRRAGPDVVEMEAVVSEPSAGAPGCCSGAPALGLTQVPRKKKVRFSVAGPSPNKPGSGQASARPSAPQTATGAHGGPGAWEAVAVGPRPHQPRILKHLPRPPPSAVTRVGPGSSFAVTLPEAYEFFFCDTIEENEEAEAAAAGQDPAGVQWPDMCEFFFPDVGAQRSRRRGSPEPLPRADPVPAPIPGDPVPISIPEVYEHFFFGEDRLEGVLGPAVPLPLQALEPPRSASEGAGPGTPLKPAVVERLHLALRRAGELRGPVPSFAFSQNDMCLVFVAFATWAVRTSDPHTPDAWKTALLANVGTISAIRYFRRQVGQGRRSHSPSPSS||,C|non_coding_transcript_exon_variant|MODIFIER|PERM1|ENSG00000187642|Transcript|ENST00000479361|retained_intron|2/2||ENST00000479361.1:n.890A>G||890|||||rs4970429||-1||SNV|HGNC|HGNC:28208||||1||||||||||||||0.9147|0.7496|0.9409|0.999|0.9592|0.9867||||||||||0.916|0.7787|0.9759|0.9468|0.9237|0.9996|0.9916|0.9335|0.9683|0.924|0.982|0.9996|gnomADg_EAS|||||||||||||,C|downstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000480267|retained_intron||||||||||rs4970429|4000|1||SNV|HGNC|HGNC:25284||||3||||||||||||||0.9147|0.7496|0.9409|0.999|0.9592|0.9867||||||||||0.916|0.7787|0.9759|0.9468|0.9237|0.9996|0.9916|0.9335|0.9683|0.924|0.982|0.9996|gnomADg_EAS|||||||||||||,C|intron_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000491024|protein_coding||4/4|ENST00000491024.1:c.*14-189T>C|||||||rs4970429||1|cds_start_NF|SNV|HGNC|HGNC:25284||||3|||ENSP00000462558||J3KSM5.48|UPI000268AE1F||||||||0.9147|0.7496|0.9409|0.999|0.9592|0.9867||||||||||0.916|0.7787|0.9759|0.9468|0.9237|0.9996|0.9916|0.9335|0.9683|0.924|0.982|0.9996|gnomADg_EAS|||||||||||SLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,C|downstream_gene_variant|MODIFIER|PERM1|ENSG00000187642|Transcript|ENST00000694917|protein_coding||||||||||rs4970429|598|-1||SNV|HGNC|HGNC:28208|||||P3|CCDS76083.1|ENSP00000511592|Q5SV97.110||UPI0003E30FA7|Q5SV97-1|||||||0.9147|0.7496|0.9409|0.999|0.9592|0.9867||||||||||0.916|0.7787|0.9759|0.9468|0.9237|0.9996|0.9916|0.9335|0.9683|0.924|0.982|0.9996|gnomADg_EAS|||||||||||MENFQYSVQLSDQDWAEFSATADECGLLQAGLASGDELLSSDIDQGDSSGSSPPRAPPLPTGQLAAGGRSRRGCEEEDVATQQPVSRSQGEPVLALGTGQQTPSTSARAEAPPSLGPGASPPSQFSSCPGPASSGDQMQRLLQGPAPRPPGEPPGSPKSPGHSTGSQRPPDSPGAPPRSPSRKKRRAVGAKGGGHTGASASAQTGSPLLPAASPETAKLMAKAGQEELGPGPAGAPEPGPRSPVQEDRPGPGLGLSTPVPVTEQGTDQIRTPRRAKLHTVSTTVWEALPDVSRAKSDMAVSTPASEPQPDRDMAVSTPASEPQSDRDMAVSTPASEPQPDTDMAVSTPASEPQPDRDMAVSIPASKPQSDTAVSTPASEPQSSVALSTPISKPQLDTDVAVSTPASKHGLDVALPTAGPVAKLEVASSPPVSEAVPRMTESSGLVSTPVPRADAAGLAWPPTRRAGPDVVEMEAVVSEPSAGAPGCCSGAPALGLTQVPRKKKVRFSVAGPSPNKPGSGQASARPSAPQTATGAHGGPGAWEAVAVGPRPHQPRILKHLPRPPPSAVTRVGPGSSFAVTLPEAYEFFFCDTIEENEEAEAAAAGQDPAGVQWPDMCEFFFPDVGAQRSRRRGSPEPLPRADPVPAPIPGDPVPISIPEVYEHFFFGEDRLEGVLGPAVPLPLQALEPPRSASEGAGPGTPLKPAVVERLHLALRRAGELRGPVPSFAFSQNDMCLVFVAFATWAVRTSDPHTPDAWKTALLANVGTISAIRYFRRQVGQGRRSHSPSPSS|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,5:0.5:11:0,0:3,3:3,3:3,3,3,2 -chr1 976215 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5%2C7|3%2C3;DP=20;ECNT=1;GERMQ=40;MBQ=32,34;MFRL=0,0;MMQ=60,60;MPOS=65;POPAF=7.3;TLOD=19.72;SRC=snv;GRP=s001;CSQ=G|missense_variant|MODERATE|PERM1|ENSG00000187642|Transcript|ENST00000341290|protein_coding|5/5||ENST00000341290.6:c.1988T>C|ENSP00000343864.2:p.Val663Ala|2024|1988|663|V/A|gTg/gCg|rs7417106&COSV58020657||-1||SNV|HGNC|HGNC:28208||||2|A2|CCDS90836.1|ENSP00000343864|Q5SV97.110||UPI000022DAF4|Q5SV97-3||tolerated(0.14)|possibly_damaging(0.737)||||0.7103|0.4092|0.8012|0.9246|0.7873|0.7526|0.7916|0.4733|0.8376|0.7507|0.9444|0.8181|0.7907|0.7593|0.7755|0.7147|0.4922|0.6956|0.7995|0.7693|0.9368|0.8133|0.693|0.7919|0.7201|0.7736|0.9444|gnomADe_EAS|pathogenic|0&1|1&1|29481575|||||||MEPRGGGSSQFSSCPGPASSGDQMQRLLQGPAPRPPGEPPGSPKSPGHSTGSQRPPDSPGAPPRSPSRKKRRAVGAKGGGHTGASASAQTGSPLLPAASPETAKLMAKAGQEELGPGPAGAPEPGPRSPVQEDRPGPGLGLSTPVPVTEQGTDQIRTPRRAKLHTVSTTVWEALPDVSRAKSDMAVSTPASEPQPDRDMAVSTPASEPQSDRDMAVSTPASEPQPDTDMAVSTPASEPQPDRDMAVSIPASKPQSDTAVSTPASEPQSSVALSTPISKPQLDTDVAVSTPASKHGLDVALPTAGPVAKLEVASSPPVSEAVPRMTESSGLVSTPVPRADAAGLAWPPTRRAGPDVVEMEAVVSEPSAGAPGCCSGAPALGLTQVPRKKKVRFSVAGPSPNKPGSGQASARPSAPQTATGAHGGPGAWEAVAVGPRPHQPRILKHLPRPPPSAVTRVGPGSSFAVTLPEAYEFFFCDTIEENEEAEAAAAGQDPAGVQWPDMCEFFFPDVGAQRSRRRGSPEPLPRADPVPAPIPGDPVPISIPEVYEHFFFGEDRLEGVLGPAVPLPLQALEPPRSASEGAGPGTPLKPAVVERLHLALRRAGELRGPVPSFAFSQNDMCLVFVAFATWAVRTSDPHTPDAWKTALLANVGTISAIRYFRRQVGQGRRSHSPSPSS||,G|downstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379407|protein_coding||||||||||rs7417106&COSV58020657|1207|1||SNV|HGNC|HGNC:25284||||1|A2|CCDS53256.1|ENSP00000368717|Q494U1.135||UPI00005764FF|Q494U1-3|||||||0.7103|0.4092|0.8012|0.9246|0.7873|0.7526|0.7916|0.4733|0.8376|0.7507|0.9444|0.8181|0.7907|0.7593|0.7755|0.7147|0.4922|0.6956|0.7995|0.7693|0.9368|0.8133|0.693|0.7919|0.7201|0.7736|0.9444|gnomADe_EAS|pathogenic|0&1|1&1|29481575|||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,G|downstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379409|protein_coding||||||||||rs7417106&COSV58020657|1207|1||SNV|HGNC|HGNC:25284||||2|A2|CCDS90835.1|ENSP00000368719|Q494U1.135||UPI0000D61E06|Q494U1-2|||||||0.7103|0.4092|0.8012|0.9246|0.7873|0.7526|0.7916|0.4733|0.8376|0.7507|0.9444|0.8181|0.7907|0.7593|0.7755|0.7147|0.4922|0.6956|0.7995|0.7693|0.9368|0.8133|0.693|0.7919|0.7201|0.7736|0.9444|gnomADe_EAS|pathogenic|0&1|1&1|29481575|||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGVWDASRAPRGTPDPGLGEGPALWLRSTCVYVCALSALPAGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQGSCGDELPWTLQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,G|downstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000379410|protein_coding||||||||||rs7417106&COSV58020657|350|1||SNV|HGNC|HGNC:25284|YES|NM_032129.3||1|P4|CCDS4.1|ENSP00000368720|Q494U1.135||UPI00001416D8|Q494U1-1|||||||0.7103|0.4092|0.8012|0.9246|0.7873|0.7526|0.7916|0.4733|0.8376|0.7507|0.9444|0.8181|0.7907|0.7593|0.7755|0.7147|0.4922|0.6956|0.7995|0.7693|0.9368|0.8133|0.693|0.7919|0.7201|0.7736|0.9444|gnomADe_EAS|pathogenic|0&1|1&1|29481575|||||||MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQPFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPLEGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQRRLTRLRTASGHEPGGSAVCASRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCASYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPSTVGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,G|missense_variant|MODERATE|PERM1|ENSG00000187642|Transcript|ENST00000433179|protein_coding|4/4||ENST00000433179.4:c.2330T>C|ENSP00000414022.3:p.Val777Ala|2503|2330|777|V/A|gTg/gCg|rs7417106&COSV58020657||-1||SNV|HGNC|HGNC:28208|YES|NM_001394713.1||5|P3|CCDS76083.1|ENSP00000414022|Q5SV97.110||UPI0003E30FA7|Q5SV97-1||tolerated(0.17)|benign(0.309)||||0.7103|0.4092|0.8012|0.9246|0.7873|0.7526|0.7916|0.4733|0.8376|0.7507|0.9444|0.8181|0.7907|0.7593|0.7755|0.7147|0.4922|0.6956|0.7995|0.7693|0.9368|0.8133|0.693|0.7919|0.7201|0.7736|0.9444|gnomADe_EAS|pathogenic|0&1|1&1|29481575|||||||MENFQYSVQLSDQDWAEFSATADECGLLQAGLASGDELLSSDIDQGDSSGSSPPRAPPLPTGQLAAGGRSRRGCEEEDVATQQPVSRSQGEPVLALGTGQQTPSTSARAEAPPSLGPGASPPSQFSSCPGPASSGDQMQRLLQGPAPRPPGEPPGSPKSPGHSTGSQRPPDSPGAPPRSPSRKKRRAVGAKGGGHTGASASAQTGSPLLPAASPETAKLMAKAGQEELGPGPAGAPEPGPRSPVQEDRPGPGLGLSTPVPVTEQGTDQIRTPRRAKLHTVSTTVWEALPDVSRAKSDMAVSTPASEPQPDRDMAVSTPASEPQSDRDMAVSTPASEPQPDTDMAVSTPASEPQPDRDMAVSIPASKPQSDTAVSTPASEPQSSVALSTPISKPQLDTDVAVSTPASKHGLDVALPTAGPVAKLEVASSPPVSEAVPRMTESSGLVSTPVPRADAAGLAWPPTRRAGPDVVEMEAVVSEPSAGAPGCCSGAPALGLTQVPRKKKVRFSVAGPSPNKPGSGQASARPSAPQTATGAHGGPGAWEAVAVGPRPHQPRILKHLPRPPPSAVTRVGPGSSFAVTLPEAYEFFFCDTIEENEEAEAAAAGQDPAGVQWPDMCEFFFPDVGAQRSRRRGSPEPLPRADPVPAPIPGDPVPISIPEVYEHFFFGEDRLEGVLGPAVPLPLQALEPPRSASEGAGPGTPLKPAVVERLHLALRRAGELRGPVPSFAFSQNDMCLVFVAFATWAVRTSDPHTPDAWKTALLANVGTISAIRYFRRQVGQGRRSHSPSPSS||,G|non_coding_transcript_exon_variant|MODIFIER|PERM1|ENSG00000187642|Transcript|ENST00000479361|retained_intron|2/2||ENST00000479361.1:n.198T>C||198|||||rs7417106&COSV58020657||-1||SNV|HGNC|HGNC:28208||||1||||||||||||||0.7103|0.4092|0.8012|0.9246|0.7873|0.7526|0.7916|0.4733|0.8376|0.7507|0.9444|0.8181|0.7907|0.7593|0.7755|0.7147|0.4922|0.6956|0.7995|0.7693|0.9368|0.8133|0.693|0.7919|0.7201|0.7736|0.9444|gnomADe_EAS|pathogenic|0&1|1&1|29481575|||||||||,G|downstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000480267|retained_intron||||||||||rs7417106&COSV58020657|4692|1||SNV|HGNC|HGNC:25284||||3||||||||||||||0.7103|0.4092|0.8012|0.9246|0.7873|0.7526|0.7916|0.4733|0.8376|0.7507|0.9444|0.8181|0.7907|0.7593|0.7755|0.7147|0.4922|0.6956|0.7995|0.7693|0.9368|0.8133|0.693|0.7919|0.7201|0.7736|0.9444|gnomADe_EAS|pathogenic|0&1|1&1|29481575|||||||||,G|downstream_gene_variant|MODIFIER|PLEKHN1|ENSG00000187583|Transcript|ENST00000491024|protein_coding||||||||||rs7417106&COSV58020657|350|1|cds_start_NF|SNV|HGNC|HGNC:25284||||3|||ENSP00000462558||J3KSM5.48|UPI000268AE1F||||||||0.7103|0.4092|0.8012|0.9246|0.7873|0.7526|0.7916|0.4733|0.8376|0.7507|0.9444|0.8181|0.7907|0.7593|0.7755|0.7147|0.4922|0.6956|0.7995|0.7693|0.9368|0.8133|0.693|0.7919|0.7201|0.7736|0.9444|gnomADe_EAS|pathogenic|0&1|1&1|29481575|||||||SLESSPDAPDHTSETSHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGALQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGGPEASGGLVQWI||,G|missense_variant|MODERATE|PERM1|ENSG00000187642|Transcript|ENST00000694917|protein_coding|4/4||ENST00000694917.1:c.2330T>C|ENSP00000511592.1:p.Val777Ala|2401|2330|777|V/A|gTg/gCg|rs7417106&COSV58020657||-1||SNV|HGNC|HGNC:28208|||||P3|CCDS76083.1|ENSP00000511592|Q5SV97.110||UPI0003E30FA7|Q5SV97-1||tolerated(0.17)|benign(0.309)||||0.7103|0.4092|0.8012|0.9246|0.7873|0.7526|0.7916|0.4733|0.8376|0.7507|0.9444|0.8181|0.7907|0.7593|0.7755|0.7147|0.4922|0.6956|0.7995|0.7693|0.9368|0.8133|0.693|0.7919|0.7201|0.7736|0.9444|gnomADe_EAS|pathogenic|0&1|1&1|29481575|||||||MENFQYSVQLSDQDWAEFSATADECGLLQAGLASGDELLSSDIDQGDSSGSSPPRAPPLPTGQLAAGGRSRRGCEEEDVATQQPVSRSQGEPVLALGTGQQTPSTSARAEAPPSLGPGASPPSQFSSCPGPASSGDQMQRLLQGPAPRPPGEPPGSPKSPGHSTGSQRPPDSPGAPPRSPSRKKRRAVGAKGGGHTGASASAQTGSPLLPAASPETAKLMAKAGQEELGPGPAGAPEPGPRSPVQEDRPGPGLGLSTPVPVTEQGTDQIRTPRRAKLHTVSTTVWEALPDVSRAKSDMAVSTPASEPQPDRDMAVSTPASEPQSDRDMAVSTPASEPQPDTDMAVSTPASEPQPDRDMAVSIPASKPQSDTAVSTPASEPQSSVALSTPISKPQLDTDVAVSTPASKHGLDVALPTAGPVAKLEVASSPPVSEAVPRMTESSGLVSTPVPRADAAGLAWPPTRRAGPDVVEMEAVVSEPSAGAPGCCSGAPALGLTQVPRKKKVRFSVAGPSPNKPGSGQASARPSAPQTATGAHGGPGAWEAVAVGPRPHQPRILKHLPRPPPSAVTRVGPGSSFAVTLPEAYEFFFCDTIEENEEAEAAAAGQDPAGVQWPDMCEFFFPDVGAQRSRRRGSPEPLPRADPVPAPIPGDPVPISIPEVYEHFFFGEDRLEGVLGPAVPLPLQALEPPRSASEGAGPGTPLKPAVVERLHLALRRAGELRGPVPSFAFSQNDMCLVFVAFATWAVRTSDPHTPDAWKTALLANVGTISAIRYFRRQVGQGRRSHSPSPSS||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344444|promoter||||||||||rs7417106&COSV58020657||||SNV||||||||||||||||||||0.7103|0.4092|0.8012|0.9246|0.7873|0.7526|0.7916|0.4733|0.8376|0.7507|0.9444|0.8181|0.7907|0.7593|0.7755|0.7147|0.4922|0.6956|0.7995|0.7693|0.9368|0.8133|0.693|0.7919|0.7201|0.7736|0.9444|gnomADe_EAS|pathogenic|0&1|1&1|29481575|||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344446|CTCF_binding_site||||||||||rs7417106&COSV58020657||||SNV||||||||||||||||||||0.7103|0.4092|0.8012|0.9246|0.7873|0.7526|0.7916|0.4733|0.8376|0.7507|0.9444|0.8181|0.7907|0.7593|0.7755|0.7147|0.4922|0.6956|0.7995|0.7693|0.9368|0.8133|0.693|0.7919|0.7201|0.7736|0.9444|gnomADe_EAS|pathogenic|0&1|1&1|29481575|||||||||,G|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00498224013|||||||||||rs7417106&COSV58020657||-1||SNV||||||||||||||||||||0.7103|0.4092|0.8012|0.9246|0.7873|0.7526|0.7916|0.4733|0.8376|0.7507|0.9444|0.8181|0.7907|0.7593|0.7755|0.7147|0.4922|0.6956|0.7995|0.7693|0.9368|0.8133|0.693|0.7919|0.7201|0.7736|0.9444|gnomADe_EAS|pathogenic|0&1|1&1|29481575|ENSPFM0605|19|N|-0.031|TFAP4::MAX||||,G|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00205660333|||||||||||rs7417106&COSV58020657||1||SNV||||||||||||||||||||0.7103|0.4092|0.8012|0.9246|0.7873|0.7526|0.7916|0.4733|0.8376|0.7507|0.9444|0.8181|0.7907|0.7593|0.7755|0.7147|0.4922|0.6956|0.7995|0.7693|0.9368|0.8133|0.693|0.7919|0.7201|0.7736|0.9444|gnomADe_EAS|pathogenic|0&1|1&1|29481575|ENSPFM0139|2|N|-0.027|ETV2::DLX3&HOXB2::ELF1&HOXB2::ELK3||||,G|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00000166227|||||||||||rs7417106&COSV58020657||1||SNV||||||||||||||||||||0.7103|0.4092|0.8012|0.9246|0.7873|0.7526|0.7916|0.4733|0.8376|0.7507|0.9444|0.8181|0.7907|0.7593|0.7755|0.7147|0.4922|0.6956|0.7995|0.7693|0.9368|0.8133|0.693|0.7919|0.7201|0.7736|0.9444|gnomADe_EAS|pathogenic|0&1|1&1|29481575|ENSPFM0042|7|N|-0.028|CTCF||||,G|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00205865120|||||||||||rs7417106&COSV58020657||1||SNV||||||||||||||||||||0.7103|0.4092|0.8012|0.9246|0.7873|0.7526|0.7916|0.4733|0.8376|0.7507|0.9444|0.8181|0.7907|0.7593|0.7755|0.7147|0.4922|0.6956|0.7995|0.7693|0.9368|0.8133|0.693|0.7919|0.7201|0.7736|0.9444|gnomADe_EAS|pathogenic|0&1|1&1|29481575|ENSPFM0307|1|N|-0.024|HOXB2::ELF1|||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:12,6:0.332:18:1,0:5,3:7,3:5,7,3,3 -chr1 997238 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=94;POPAF=7.3;TLOD=6.98;SRC=snv;GRP=s001;CSQ=G|downstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000304952|protein_coding||||||||||rs3128112|1726|-1||SNV|HGNC|HGNC:24149|YES|NM_021170.4||1|P1|CCDS5.1|ENSP00000304595|Q9HCC6.164||UPI000006EC19||||||||0.9647|0.9357|0.9524|0.999|0.9573|0.9847||||||||||0.9611|0.9482|0.9803|0.9649|0.9404|0.9998|0.9788|0.9177|0.9619|0.956|0.9833|0.9998|gnomADg_EAS|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,G|downstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000428771|protein_coding||||||||||rs3128112|1724|-1||SNV|HGNC|HGNC:24149||||2||CCDS44034.1|ENSP00000393198||E9PB28.82|UPI0001881B51||||||||0.9647|0.9357|0.9524|0.999|0.9573|0.9847||||||||||0.9611|0.9482|0.9803|0.9649|0.9404|0.9998|0.9788|0.9177|0.9619|0.956|0.9833|0.9998|gnomADg_EAS|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKVGSRPGVRGATGGREGRGTQPVPDPQSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,G|downstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000481869|retained_intron||||||||||rs3128112|1728|-1||SNV|HGNC|HGNC:24149||||2||||||||||||||0.9647|0.9357|0.9524|0.999|0.9573|0.9847||||||||||0.9611|0.9482|0.9803|0.9649|0.9404|0.9998|0.9788|0.9177|0.9619|0.956|0.9833|0.9998|gnomADg_EAS|||||||||||||,G|downstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000484667|protein_coding||||||||||rs3128112|1732|-1||SNV|HGNC|HGNC:24149||||3||CCDS90837.1|ENSP00000425085||D6REB3.81|UPI0001D3BBEE||||||||0.9647|0.9357|0.9524|0.999|0.9573|0.9847||||||||||0.9611|0.9482|0.9803|0.9649|0.9404|0.9998|0.9788|0.9177|0.9619|0.956|0.9833|0.9998|gnomADg_EAS|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000272512|Transcript|ENST00000606034|lncRNA|1/1||ENST00000606034.1:n.814G>C||814|||||rs3128112||-1||SNV|||YES|||||||||||||||||0.9647|0.9357|0.9524|0.999|0.9573|0.9847||||||||||0.9611|0.9482|0.9803|0.9649|0.9404|0.9998|0.9788|0.9177|0.9619|0.956|0.9833|0.9998|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding||||||||||rs3128112|3907|1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||0.9647|0.9357|0.9524|0.999|0.9573|0.9847||||||||||0.9611|0.9482|0.9803|0.9649|0.9404|0.9998|0.9788|0.9177|0.9619|0.956|0.9833|0.9998|gnomADg_EAS|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,G|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding||||||||||rs3128112|3900|1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||0.9647|0.9357|0.9524|0.999|0.9573|0.9847||||||||||0.9611|0.9482|0.9803|0.9649|0.9404|0.9998|0.9788|0.9177|0.9619|0.956|0.9833|0.9998|gnomADg_EAS|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.75:2:0,0:0,2:0,2:0,0,2,0 -chr1 997987 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,28;MFRL=0,0;MMQ=60,60;MPOS=94;POPAF=7.3;TLOD=6.25;SRC=snv;GRP=s001;CSQ=A|downstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000304952|protein_coding||||||||||rs565154156|977|-1||SNV|HGNC|HGNC:24149|YES|NM_021170.4||1|P1|CCDS5.1|ENSP00000304595|Q9HCC6.164||UPI000006EC19||||||||0.0002|0|0|0|0|0.001||||||||||4.599e-05|0|0|0|0|0|0|0|5.881e-05|0|0.0006203|0.001|SAS|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,A|downstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000428771|protein_coding||||||||||rs565154156|975|-1||SNV|HGNC|HGNC:24149||||2||CCDS44034.1|ENSP00000393198||E9PB28.82|UPI0001881B51||||||||0.0002|0|0|0|0|0.001||||||||||4.599e-05|0|0|0|0|0|0|0|5.881e-05|0|0.0006203|0.001|SAS|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKVGSRPGVRGATGGREGRGTQPVPDPQSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,A|downstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000481869|retained_intron||||||||||rs565154156|979|-1||SNV|HGNC|HGNC:24149||||2||||||||||||||0.0002|0|0|0|0|0.001||||||||||4.599e-05|0|0|0|0|0|0|0|5.881e-05|0|0.0006203|0.001|SAS|||||||||||||,A|downstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000484667|protein_coding||||||||||rs565154156|983|-1||SNV|HGNC|HGNC:24149||||3||CCDS90837.1|ENSP00000425085||D6REB3.81|UPI0001D3BBEE||||||||0.0002|0|0|0|0|0.001||||||||||4.599e-05|0|0|0|0|0|0|0|5.881e-05|0|0.0006203|0.001|SAS|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000272512|Transcript|ENST00000606034|lncRNA|1/1||ENST00000606034.1:n.65C>T||65|||||rs565154156||-1||SNV|||YES|||||||||||||||||0.0002|0|0|0|0|0.001||||||||||4.599e-05|0|0|0|0|0|0|0|5.881e-05|0|0.0006203|0.001|SAS|||||||||||||,A|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding||||||||||rs565154156|3158|1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||0.0002|0|0|0|0|0.001||||||||||4.599e-05|0|0|0|0|0|0|0|5.881e-05|0|0.0006203|0.001|SAS|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,A|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding||||||||||rs565154156|3151|1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||0.0002|0|0|0|0|0.001||||||||||4.599e-05|0|0|0|0|0|0|0|5.881e-05|0|0.0006203|0.001|SAS|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000118|promoter||||||||||rs565154156||||SNV||||||||||||||||||||0.0002|0|0|0|0|0.001||||||||||4.599e-05|0|0|0|0|0|0|0|5.881e-05|0|0.0006203|0.001|SAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 999005 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=33%2C28|28%2C18;DP=108;ECNT=2;GERMQ=36;MBQ=34,32;MFRL=0,0;MMQ=60,60;MPOS=124;POPAF=7.3;TLOD=151.05;SRC=snv;GRP=s001;CSQ=A|3_prime_UTR_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000304952|protein_coding|4/4||ENST00000304952.11:c.*54C>T||844|||||rs186167017||-1||SNV|HGNC|HGNC:24149|YES|NM_021170.4||1|P1|CCDS5.1|ENSP00000304595|Q9HCC6.164||UPI000006EC19||||||||0.0032|0|0.0058|0.001|0.0089|0.002||||||||||0.007314|0.002293|0.07127|0.005115|0.005184|0|0.0008608|0.006369|0.01197|0.006214|0.003721|0.07127|gnomADg_AMI|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,A|3_prime_UTR_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000428771|protein_coding|3/3||ENST00000428771.6:c.*54C>T||997|||||rs186167017||-1||SNV|HGNC|HGNC:24149||||2||CCDS44034.1|ENSP00000393198||E9PB28.82|UPI0001881B51||||||||0.0032|0|0.0058|0.001|0.0089|0.002||||||||||0.007314|0.002293|0.07127|0.005115|0.005184|0|0.0008608|0.006369|0.01197|0.006214|0.003721|0.07127|gnomADg_AMI|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKVGSRPGVRGATGGREGRGTQPVPDPQSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,A|non_coding_transcript_exon_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000481869|retained_intron|2/2||ENST00000481869.1:n.999C>T||999|||||rs186167017||-1||SNV|HGNC|HGNC:24149||||2||||||||||||||0.0032|0|0.0058|0.001|0.0089|0.002||||||||||0.007314|0.002293|0.07127|0.005115|0.005184|0|0.0008608|0.006369|0.01197|0.006214|0.003721|0.07127|gnomADg_AMI|||||||||||||,A|3_prime_UTR_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000484667|protein_coding|3/3||ENST00000484667.2:c.*54C>T||632|||||rs186167017||-1||SNV|HGNC|HGNC:24149||||3||CCDS90837.1|ENSP00000425085||D6REB3.81|UPI0001D3BBEE||||||||0.0032|0|0.0058|0.001|0.0089|0.002||||||||||0.007314|0.002293|0.07127|0.005115|0.005184|0|0.0008608|0.006369|0.01197|0.006214|0.003721|0.07127|gnomADg_AMI|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,A|upstream_gene_variant|MODIFIER||ENSG00000272512|Transcript|ENST00000606034|lncRNA||||||||||rs186167017|954|-1||SNV|||YES|||||||||||||||||0.0032|0|0.0058|0.001|0.0089|0.002||||||||||0.007314|0.002293|0.07127|0.005115|0.005184|0|0.0008608|0.006369|0.01197|0.006214|0.003721|0.07127|gnomADg_AMI|||||||||||||,A|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding||||||||||rs186167017|2140|1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||0.0032|0|0.0058|0.001|0.0089|0.002||||||||||0.007314|0.002293|0.07127|0.005115|0.005184|0|0.0008608|0.006369|0.01197|0.006214|0.003721|0.07127|gnomADg_AMI|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,A|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding||||||||||rs186167017|2133|1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||0.0032|0|0.0058|0.001|0.0089|0.002||||||||||0.007314|0.002293|0.07127|0.005115|0.005184|0|0.0008608|0.006369|0.01197|0.006214|0.003721|0.07127|gnomADg_AMI|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000118|promoter||||||||||rs186167017||||SNV||||||||||||||||||||0.0032|0|0.0058|0.001|0.0089|0.002||||||||||0.007314|0.002293|0.07127|0.005115|0.005184|0|0.0008608|0.006369|0.01197|0.006214|0.003721|0.07127|gnomADg_AMI|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164808|CTCF_binding_site||||||||||rs186167017||||SNV||||||||||||||||||||0.0032|0|0.0058|0.001|0.0089|0.002||||||||||0.007314|0.002293|0.07127|0.005115|0.005184|0|0.0008608|0.006369|0.01197|0.006214|0.003721|0.07127|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:61,46:0.46:107:0,0:33,28:33,28:33,28,28,18 -chr1 999577 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=25%2C28|1%2C1;DP=55;ECNT=1;GERMQ=93;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=84;POPAF=7.3;TLOD=4.24;SRC=snv;GRP=s001;CSQ=A|synonymous_variant|LOW|HES4|ENSG00000188290|Transcript|ENST00000304952|protein_coding|3/4||ENST00000304952.11:c.241C>T|ENSP00000304595.7:p.Leu81%3D|365|241|81|L|Ctg/Ttg|||-1||SNV|HGNC|HGNC:24149|YES|NM_021170.4||1|P1|CCDS5.1|ENSP00000304595|Q9HCC6.164||UPI000006EC19||||||||||||||||||||||||||||||||||||||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,A|synonymous_variant|LOW|HES4|ENSG00000188290|Transcript|ENST00000428771|protein_coding|2/3||ENST00000428771.6:c.319C>T|ENSP00000393198.2:p.Leu107%3D|518|319|107|L|Ctg/Ttg|||-1||SNV|HGNC|HGNC:24149||||2||CCDS44034.1|ENSP00000393198||E9PB28.82|UPI0001881B51||||||||||||||||||||||||||||||||||||||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKVGSRPGVRGATGGREGRGTQPVPDPQSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,A|non_coding_transcript_exon_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000481869|retained_intron|1/2||ENST00000481869.1:n.520C>T||520|||||||-1||SNV|HGNC|HGNC:24149||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|synonymous_variant|LOW|HES4|ENSG00000188290|Transcript|ENST00000484667|protein_coding|2/3||ENST00000484667.2:c.145C>T|ENSP00000425085.1:p.Leu49%3D|153|145|49|L|Ctg/Ttg|||-1||SNV|HGNC|HGNC:24149||||3||CCDS90837.1|ENSP00000425085||D6REB3.81|UPI0001D3BBEE||||||||||||||||||||||||||||||||||||||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,A|upstream_gene_variant|MODIFIER||ENSG00000272512|Transcript|ENST00000606034|lncRNA|||||||||||1526|-1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding|||||||||||1568|1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||||||||||||||||||||||||||||||||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,A|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding|||||||||||1561|1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||||||||||||||||||||||||||||||||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000118|promoter||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:53,2:0.048:55:13,0:25,1:39,1:25,28,1,1 -chr1 999842 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4%2C5|18%2C20;DP=52;ECNT=1;GERMQ=69;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=39;POPAF=7.3;TLOD=126.5;SRC=snv;GRP=s001;CSQ=A|intron_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000304952|protein_coding||1/3|ENST00000304952.11:c.108+24G>T|||||||rs2298214&COSV59241795||-1||SNV|HGNC|HGNC:24149|YES|NM_021170.4||1|P1|CCDS5.1|ENSP00000304595|Q9HCC6.164||UPI000006EC19||||||||0.4938|0.0356|0.6268|0.7718|0.5895|0.6339|0.6136|0.1208|0.7139|0.6344|0.786|0.5555|0.595|0.5882|0.6625|0.4573|0.1137|0.5154|0.6295|0.6331|0.767|0.5288|0.5573|0.5694|0.4981|0.6384|0.786|gnomADe_EAS||0&1|1&1|36477530&28849102&34594039&32203549|||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,A|missense_variant|MODERATE|HES4|ENSG00000188290|Transcript|ENST00000428771|protein_coding|1/3||ENST00000428771.6:c.132G>T|ENSP00000393198.2:p.Arg44Ser|331|132|44|R/S|agG/agT|rs2298214&COSV59241795||-1||SNV|HGNC|HGNC:24149||||2||CCDS44034.1|ENSP00000393198||E9PB28.82|UPI0001881B51|||tolerated_low_confidence(0.69)|benign(0)||||0.4938|0.0356|0.6268|0.7718|0.5895|0.6339|0.6136|0.1208|0.7139|0.6344|0.786|0.5555|0.595|0.5882|0.6625|0.4573|0.1137|0.5154|0.6295|0.6331|0.767|0.5288|0.5573|0.5694|0.4981|0.6384|0.786|gnomADe_EAS||0&1|1&1|36477530&28849102&34594039&32203549|||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKVGSRPGVRGATGGREGRGTQPVPDPQSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,A|non_coding_transcript_exon_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000481869|retained_intron|1/2||ENST00000481869.1:n.255G>T||255|||||rs2298214&COSV59241795||-1||SNV|HGNC|HGNC:24149||||2||||||||||||||0.4938|0.0356|0.6268|0.7718|0.5895|0.6339|0.6136|0.1208|0.7139|0.6344|0.786|0.5555|0.595|0.5882|0.6625|0.4573|0.1137|0.5154|0.6295|0.6331|0.767|0.5288|0.5573|0.5694|0.4981|0.6384|0.786|gnomADe_EAS||0&1|1&1|36477530&28849102&34594039&32203549|||||||||,A|intron_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000484667|protein_coding||1/2|ENST00000484667.2:c.108+24G>T|||||||rs2298214&COSV59241795||-1||SNV|HGNC|HGNC:24149||||3||CCDS90837.1|ENSP00000425085||D6REB3.81|UPI0001D3BBEE||||||||0.4938|0.0356|0.6268|0.7718|0.5895|0.6339|0.6136|0.1208|0.7139|0.6344|0.786|0.5555|0.595|0.5882|0.6625|0.4573|0.1137|0.5154|0.6295|0.6331|0.767|0.5288|0.5573|0.5694|0.4981|0.6384|0.786|gnomADe_EAS||0&1|1&1|36477530&28849102&34594039&32203549|||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,A|upstream_gene_variant|MODIFIER||ENSG00000272512|Transcript|ENST00000606034|lncRNA||||||||||rs2298214&COSV59241795|1791|-1||SNV|||YES|||||||||||||||||0.4938|0.0356|0.6268|0.7718|0.5895|0.6339|0.6136|0.1208|0.7139|0.6344|0.786|0.5555|0.595|0.5882|0.6625|0.4573|0.1137|0.5154|0.6295|0.6331|0.767|0.5288|0.5573|0.5694|0.4981|0.6384|0.786|gnomADe_EAS||0&1|1&1|36477530&28849102&34594039&32203549|||||||||,A|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding||||||||||rs2298214&COSV59241795|1303|1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||0.4938|0.0356|0.6268|0.7718|0.5895|0.6339|0.6136|0.1208|0.7139|0.6344|0.786|0.5555|0.595|0.5882|0.6625|0.4573|0.1137|0.5154|0.6295|0.6331|0.767|0.5288|0.5573|0.5694|0.4981|0.6384|0.786|gnomADe_EAS||0&1|1&1|36477530&28849102&34594039&32203549|||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,A|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding||||||||||rs2298214&COSV59241795|1296|1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||0.4938|0.0356|0.6268|0.7718|0.5895|0.6339|0.6136|0.1208|0.7139|0.6344|0.786|0.5555|0.595|0.5882|0.6625|0.4573|0.1137|0.5154|0.6295|0.6331|0.767|0.5288|0.5573|0.5694|0.4981|0.6384|0.786|gnomADe_EAS||0&1|1&1|36477530&28849102&34594039&32203549|||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000118|promoter||||||||||rs2298214&COSV59241795||||SNV||||||||||||||||||||0.4938|0.0356|0.6268|0.7718|0.5895|0.6339|0.6136|0.1208|0.7139|0.6344|0.786|0.5555|0.595|0.5882|0.6625|0.4573|0.1137|0.5154|0.6295|0.6331|0.767|0.5288|0.5573|0.5694|0.4981|0.6384|0.786|gnomADe_EAS||0&1|1&1|36477530&28849102&34594039&32203549||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:9,38:0.818:47:0,2:3,17:5,24:4,5,18,20 -chr1 1000079 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|40%2C48;DP=90;ECNT=4;GERMQ=93;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=19;POPAF=7.3;TLOD=338.09;SRC=snv;GRP=s001;CSQ=G|5_prime_UTR_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000304952|protein_coding|1/4||ENST00000304952.11:c.-106T>C||19|||||rs3128113&COSV59242288||-1||SNV|HGNC|HGNC:24149|YES|NM_021170.4||1|P1|CCDS5.1|ENSP00000304595|Q9HCC6.164||UPI000006EC19||||||||0.6771|0.323|0.7896|0.8482|0.7893|0.7843||||||||||0.6804|0.3764|0.7682|0.7929|0.7662|0.8667|0.7782|0.7166|0.7973|0.6949|0.7899|0.8667|gnomADg_EAS||0&1|0&1||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,G|5_prime_UTR_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000428771|protein_coding|1/3||ENST00000428771.6:c.-106T>C||94|||||rs3128113&COSV59242288||-1||SNV|HGNC|HGNC:24149||||2||CCDS44034.1|ENSP00000393198||E9PB28.82|UPI0001881B51||||||||0.6771|0.323|0.7896|0.8482|0.7893|0.7843||||||||||0.6804|0.3764|0.7682|0.7929|0.7662|0.8667|0.7782|0.7166|0.7973|0.6949|0.7899|0.8667|gnomADg_EAS||0&1|0&1||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKVGSRPGVRGATGGREGRGTQPVPDPQSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,G|non_coding_transcript_exon_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000481869|retained_intron|1/2||ENST00000481869.1:n.18T>C||18|||||rs3128113&COSV59242288||-1||SNV|HGNC|HGNC:24149||||2||||||||||||||0.6771|0.323|0.7896|0.8482|0.7893|0.7843||||||||||0.6804|0.3764|0.7682|0.7929|0.7662|0.8667|0.7782|0.7166|0.7973|0.6949|0.7899|0.8667|gnomADg_EAS||0&1|0&1||||||||||,G|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000484667|protein_coding||||||||||rs3128113&COSV59242288|98|-1||SNV|HGNC|HGNC:24149||||3||CCDS90837.1|ENSP00000425085||D6REB3.81|UPI0001D3BBEE||||||||0.6771|0.323|0.7896|0.8482|0.7893|0.7843||||||||||0.6804|0.3764|0.7682|0.7929|0.7662|0.8667|0.7782|0.7166|0.7973|0.6949|0.7899|0.8667|gnomADg_EAS||0&1|0&1||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,G|upstream_gene_variant|MODIFIER||ENSG00000272512|Transcript|ENST00000606034|lncRNA||||||||||rs3128113&COSV59242288|2028|-1||SNV|||YES|||||||||||||||||0.6771|0.323|0.7896|0.8482|0.7893|0.7843||||||||||0.6804|0.3764|0.7682|0.7929|0.7662|0.8667|0.7782|0.7166|0.7973|0.6949|0.7899|0.8667|gnomADg_EAS||0&1|0&1||||||||||,G|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding||||||||||rs3128113&COSV59242288|1066|1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||0.6771|0.323|0.7896|0.8482|0.7893|0.7843||||||||||0.6804|0.3764|0.7682|0.7929|0.7662|0.8667|0.7782|0.7166|0.7973|0.6949|0.7899|0.8667|gnomADg_EAS||0&1|0&1||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,G|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding||||||||||rs3128113&COSV59242288|1059|1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||0.6771|0.323|0.7896|0.8482|0.7893|0.7843||||||||||0.6804|0.3764|0.7682|0.7929|0.7662|0.8667|0.7782|0.7166|0.7973|0.6949|0.7899|0.8667|gnomADg_EAS||0&1|0&1||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000118|promoter||||||||||rs3128113&COSV59242288||||SNV||||||||||||||||||||0.6771|0.323|0.7896|0.8482|0.7893|0.7843||||||||||0.6804|0.3764|0.7682|0.7929|0.7662|0.8667|0.7782|0.7166|0.7973|0.6949|0.7899|0.8667|gnomADg_EAS||0&1|0&1|||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,88:0.981:88:0,8:0,40:0,49:0,0,40,48 -chr1 1000112 . G T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|9%2C10;DP=29;ECNT=4;GERMQ=93;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=42;POPAF=7.3;TLOD=64.39;SRC=snv;GRP=s001;CSQ=T|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000304952|protein_coding||||||||||rs3121571|15|-1||SNV|HGNC|HGNC:24149|YES|NM_021170.4||1|P1|CCDS5.1|ENSP00000304595|Q9HCC6.164||UPI000006EC19||||||||0.6771|0.323|0.7896|0.8482|0.7893|0.7843||||||||||0.68|0.3749|0.7704|0.793|0.7665|0.8662|0.7787|0.7166|0.7972|0.6939|0.79|0.8662|gnomADg_EAS|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,T|5_prime_UTR_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000428771|protein_coding|1/3||ENST00000428771.6:c.-139C>A||61|||||rs3121571||-1||SNV|HGNC|HGNC:24149||||2||CCDS44034.1|ENSP00000393198||E9PB28.82|UPI0001881B51||||||||0.6771|0.323|0.7896|0.8482|0.7893|0.7843||||||||||0.68|0.3749|0.7704|0.793|0.7665|0.8662|0.7787|0.7166|0.7972|0.6939|0.79|0.8662|gnomADg_EAS|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKVGSRPGVRGATGGREGRGTQPVPDPQSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,T|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000481869|retained_intron||||||||||rs3121571|16|-1||SNV|HGNC|HGNC:24149||||2||||||||||||||0.6771|0.323|0.7896|0.8482|0.7893|0.7843||||||||||0.68|0.3749|0.7704|0.793|0.7665|0.8662|0.7787|0.7166|0.7972|0.6939|0.79|0.8662|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000484667|protein_coding||||||||||rs3121571|131|-1||SNV|HGNC|HGNC:24149||||3||CCDS90837.1|ENSP00000425085||D6REB3.81|UPI0001D3BBEE||||||||0.6771|0.323|0.7896|0.8482|0.7893|0.7843||||||||||0.68|0.3749|0.7704|0.793|0.7665|0.8662|0.7787|0.7166|0.7972|0.6939|0.79|0.8662|gnomADg_EAS|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,T|upstream_gene_variant|MODIFIER||ENSG00000272512|Transcript|ENST00000606034|lncRNA||||||||||rs3121571|2061|-1||SNV|||YES|||||||||||||||||0.6771|0.323|0.7896|0.8482|0.7893|0.7843||||||||||0.68|0.3749|0.7704|0.793|0.7665|0.8662|0.7787|0.7166|0.7972|0.6939|0.79|0.8662|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding||||||||||rs3121571|1033|1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||0.6771|0.323|0.7896|0.8482|0.7893|0.7843||||||||||0.68|0.3749|0.7704|0.793|0.7665|0.8662|0.7787|0.7166|0.7972|0.6939|0.79|0.8662|gnomADg_EAS|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,T|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding||||||||||rs3121571|1026|1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||0.6771|0.323|0.7896|0.8482|0.7893|0.7843||||||||||0.68|0.3749|0.7704|0.793|0.7665|0.8662|0.7787|0.7166|0.7972|0.6939|0.79|0.8662|gnomADg_EAS|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000118|promoter||||||||||rs3121571||||SNV||||||||||||||||||||0.6771|0.323|0.7896|0.8482|0.7893|0.7843||||||||||0.68|0.3749|0.7704|0.793|0.7665|0.8662|0.7787|0.7166|0.7972|0.6939|0.79|0.8662|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,19:0.929:19:0,0:0,8:0,10:0,0,9,10 -chr1 1000134 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=8%2C8|1%2C1;DP=18;ECNT=4;GERMQ=62;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=112;POPAF=7.3;TLOD=5.51;SRC=snv;GRP=s001;CSQ=T|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000304952|protein_coding||||||||||rs1018961738|37|-1||SNV|HGNC|HGNC:24149|YES|NM_021170.4||1|P1|CCDS5.1|ENSP00000304595|Q9HCC6.164||UPI000006EC19|||||||||||||||||||||||6.583e-06|2.415e-05|0|0|0|0|0|0|0|0|0|2.415e-05|gnomADg_AFR|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,T|5_prime_UTR_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000428771|protein_coding|1/3||ENST00000428771.6:c.-161G>A||39|||||rs1018961738||-1||SNV|HGNC|HGNC:24149||||2||CCDS44034.1|ENSP00000393198||E9PB28.82|UPI0001881B51|||||||||||||||||||||||6.583e-06|2.415e-05|0|0|0|0|0|0|0|0|0|2.415e-05|gnomADg_AFR|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKVGSRPGVRGATGGREGRGTQPVPDPQSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,T|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000481869|retained_intron||||||||||rs1018961738|38|-1||SNV|HGNC|HGNC:24149||||2|||||||||||||||||||||||||||||6.583e-06|2.415e-05|0|0|0|0|0|0|0|0|0|2.415e-05|gnomADg_AFR|||||||||||||,T|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000484667|protein_coding||||||||||rs1018961738|153|-1||SNV|HGNC|HGNC:24149||||3||CCDS90837.1|ENSP00000425085||D6REB3.81|UPI0001D3BBEE|||||||||||||||||||||||6.583e-06|2.415e-05|0|0|0|0|0|0|0|0|0|2.415e-05|gnomADg_AFR|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,T|upstream_gene_variant|MODIFIER||ENSG00000272512|Transcript|ENST00000606034|lncRNA||||||||||rs1018961738|2083|-1||SNV|||YES||||||||||||||||||||||||||||||||6.583e-06|2.415e-05|0|0|0|0|0|0|0|0|0|2.415e-05|gnomADg_AFR|||||||||||||,T|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding||||||||||rs1018961738|1011|1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1|||||||||||||||||||||6.583e-06|2.415e-05|0|0|0|0|0|0|0|0|0|2.415e-05|gnomADg_AFR|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,T|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding||||||||||rs1018961738|1004|1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1|||||||||||||||||||||6.583e-06|2.415e-05|0|0|0|0|0|0|0|0|0|2.415e-05|gnomADg_AFR|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000118|promoter||||||||||rs1018961738||||SNV|||||||||||||||||||||||||||||||||||6.583e-06|2.415e-05|0|0|0|0|0|0|0|0|0|2.415e-05|gnomADg_AFR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:16,2:0.167:18:0,0:8,1:9,1:8,8,1,1 -chr1 1000207 . C G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=14%2C11|1%2C1;DP=29;ECNT=4;GERMQ=83;MBQ=33,29;MFRL=0,0;MMQ=60,60;MPOS=73;POPAF=7.3;TLOD=4.36;SRC=snv;GRP=s001;CSQ=G|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000304952|protein_coding|||||||||||110|-1||SNV|HGNC|HGNC:24149|YES|NM_021170.4||1|P1|CCDS5.1|ENSP00000304595|Q9HCC6.164||UPI000006EC19||||||||||||||||||||||||||||||||||||||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,G|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000428771|protein_coding|||||||||||35|-1||SNV|HGNC|HGNC:24149||||2||CCDS44034.1|ENSP00000393198||E9PB28.82|UPI0001881B51||||||||||||||||||||||||||||||||||||||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKVGSRPGVRGATGGREGRGTQPVPDPQSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,G|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000481869|retained_intron|||||||||||111|-1||SNV|HGNC|HGNC:24149||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000484667|protein_coding|||||||||||226|-1||SNV|HGNC|HGNC:24149||||3||CCDS90837.1|ENSP00000425085||D6REB3.81|UPI0001D3BBEE||||||||||||||||||||||||||||||||||||||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,G|upstream_gene_variant|MODIFIER||ENSG00000272512|Transcript|ENST00000606034|lncRNA|||||||||||2156|-1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding|||||||||||938|1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||||||||||||||||||||||||||||||||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,G|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding|||||||||||931|1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||||||||||||||||||||||||||||||||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000118|promoter||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:25,2:0.116:27:0,0:14,1:14,1:14,11,1,1 -chr1 1000335 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=7%2C7|8%2C6;DP=29;ECNT=1;GERMQ=34;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=31;POPAF=7.3;TLOD=45.17;SRC=snv;GRP=s001;CSQ=T|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000304952|protein_coding||||||||||rs3128114|238|-1||SNV|HGNC|HGNC:24149|YES|NM_021170.4||1|P1|CCDS5.1|ENSP00000304595|Q9HCC6.164||UPI000006EC19||||||||0.1322|0.1029|0.1527|0.0764|0.1948|0.1503||||||||||0.1771|0.107|0.2538|0.1421|0.1305|0.09907|0.2481|0.1497|0.2263|0.1638|0.15|0.2538|gnomADg_AMI|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,T|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000428771|protein_coding||||||||||rs3128114|163|-1||SNV|HGNC|HGNC:24149||||2||CCDS44034.1|ENSP00000393198||E9PB28.82|UPI0001881B51||||||||0.1322|0.1029|0.1527|0.0764|0.1948|0.1503||||||||||0.1771|0.107|0.2538|0.1421|0.1305|0.09907|0.2481|0.1497|0.2263|0.1638|0.15|0.2538|gnomADg_AMI|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKVGSRPGVRGATGGREGRGTQPVPDPQSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,T|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000481869|retained_intron||||||||||rs3128114|239|-1||SNV|HGNC|HGNC:24149||||2||||||||||||||0.1322|0.1029|0.1527|0.0764|0.1948|0.1503||||||||||0.1771|0.107|0.2538|0.1421|0.1305|0.09907|0.2481|0.1497|0.2263|0.1638|0.15|0.2538|gnomADg_AMI|||||||||||||,T|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000484667|protein_coding||||||||||rs3128114|354|-1||SNV|HGNC|HGNC:24149||||3||CCDS90837.1|ENSP00000425085||D6REB3.81|UPI0001D3BBEE||||||||0.1322|0.1029|0.1527|0.0764|0.1948|0.1503||||||||||0.1771|0.107|0.2538|0.1421|0.1305|0.09907|0.2481|0.1497|0.2263|0.1638|0.15|0.2538|gnomADg_AMI|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,T|upstream_gene_variant|MODIFIER||ENSG00000272512|Transcript|ENST00000606034|lncRNA||||||||||rs3128114|2284|-1||SNV|||YES|||||||||||||||||0.1322|0.1029|0.1527|0.0764|0.1948|0.1503||||||||||0.1771|0.107|0.2538|0.1421|0.1305|0.09907|0.2481|0.1497|0.2263|0.1638|0.15|0.2538|gnomADg_AMI|||||||||||||,T|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding||||||||||rs3128114|810|1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||0.1322|0.1029|0.1527|0.0764|0.1948|0.1503||||||||||0.1771|0.107|0.2538|0.1421|0.1305|0.09907|0.2481|0.1497|0.2263|0.1638|0.15|0.2538|gnomADg_AMI|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,T|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding||||||||||rs3128114|803|1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||0.1322|0.1029|0.1527|0.0764|0.1948|0.1503||||||||||0.1771|0.107|0.2538|0.1421|0.1305|0.09907|0.2481|0.1497|0.2263|0.1638|0.15|0.2538|gnomADg_AMI|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000118|promoter||||||||||rs3128114||||SNV||||||||||||||||||||0.1322|0.1029|0.1527|0.0764|0.1948|0.1503||||||||||0.1771|0.107|0.2538|0.1421|0.1305|0.09907|0.2481|0.1497|0.2263|0.1638|0.15|0.2538|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:14,14:0.5:28:2,1:7,8:9,9:7,7,8,6 -chr1 1000453 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|19%2C14;DP=37;ECNT=1;GERMQ=93;MBQ=22,32;MFRL=0,0;MMQ=60,60;MPOS=72;POPAF=7.3;TLOD=117.94;SRC=snv;GRP=s001;CSQ=G|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000304952|protein_coding||||||||||rs3128115|356|-1||SNV|HGNC|HGNC:24149|YES|NM_021170.4||1|P1|CCDS5.1|ENSP00000304595|Q9HCC6.164||UPI000006EC19||||||||0.6771|0.3238|0.7896|0.8482|0.7893|0.7832||||||||||0.6804|0.3764|0.7692|0.7935|0.7588|0.8667|0.7781|0.7212|0.7973|0.6936|0.7904|0.8667|gnomADg_EAS|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,G|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000428771|protein_coding||||||||||rs3128115|281|-1||SNV|HGNC|HGNC:24149||||2||CCDS44034.1|ENSP00000393198||E9PB28.82|UPI0001881B51||||||||0.6771|0.3238|0.7896|0.8482|0.7893|0.7832||||||||||0.6804|0.3764|0.7692|0.7935|0.7588|0.8667|0.7781|0.7212|0.7973|0.6936|0.7904|0.8667|gnomADg_EAS|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKVGSRPGVRGATGGREGRGTQPVPDPQSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,G|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000481869|retained_intron||||||||||rs3128115|357|-1||SNV|HGNC|HGNC:24149||||2||||||||||||||0.6771|0.3238|0.7896|0.8482|0.7893|0.7832||||||||||0.6804|0.3764|0.7692|0.7935|0.7588|0.8667|0.7781|0.7212|0.7973|0.6936|0.7904|0.8667|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000484667|protein_coding||||||||||rs3128115|472|-1||SNV|HGNC|HGNC:24149||||3||CCDS90837.1|ENSP00000425085||D6REB3.81|UPI0001D3BBEE||||||||0.6771|0.3238|0.7896|0.8482|0.7893|0.7832||||||||||0.6804|0.3764|0.7692|0.7935|0.7588|0.8667|0.7781|0.7212|0.7973|0.6936|0.7904|0.8667|gnomADg_EAS|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,G|upstream_gene_variant|MODIFIER||ENSG00000272512|Transcript|ENST00000606034|lncRNA||||||||||rs3128115|2402|-1||SNV|||YES|||||||||||||||||0.6771|0.3238|0.7896|0.8482|0.7893|0.7832||||||||||0.6804|0.3764|0.7692|0.7935|0.7588|0.8667|0.7781|0.7212|0.7973|0.6936|0.7904|0.8667|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding||||||||||rs3128115|692|1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||0.6771|0.3238|0.7896|0.8482|0.7893|0.7832||||||||||0.6804|0.3764|0.7692|0.7935|0.7588|0.8667|0.7781|0.7212|0.7973|0.6936|0.7904|0.8667|gnomADg_EAS|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,G|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding||||||||||rs3128115|685|1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||0.6771|0.3238|0.7896|0.8482|0.7893|0.7832||||||||||0.6804|0.3764|0.7692|0.7935|0.7588|0.8667|0.7781|0.7212|0.7973|0.6936|0.7904|0.8667|gnomADg_EAS|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000118|promoter||||||||||rs3128115||||SNV||||||||||||||||||||0.6771|0.3238|0.7896|0.8482|0.7893|0.7832||||||||||0.6804|0.3764|0.7692|0.7935|0.7588|0.8667|0.7781|0.7212|0.7973|0.6936|0.7904|0.8667|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,33:0.918:35:0,2:1,19:1,21:1,1,19,14 -chr1 1000731 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=10%2C14|13%2C14;DP=51;ECNT=3;GERMQ=32;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=86;POPAF=7.3;TLOD=86.76;SRC=snv;GRP=s001;CSQ=T|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000304952|protein_coding||||||||||rs1936360|634|-1||SNV|HGNC|HGNC:24149|YES|NM_021170.4||1|P1|CCDS5.1|ENSP00000304595|Q9HCC6.164||UPI000006EC19||||||||0.5407|0.2095|0.634|0.7718|0.5905|0.6329||||||||||0.4957|0.256|0.5155|0.6427|0.6272|0.7654|0.5268|0.5637|0.5651|0.5244|0.6382|0.7718|EAS|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,T|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000428771|protein_coding||||||||||rs1936360|559|-1||SNV|HGNC|HGNC:24149||||2||CCDS44034.1|ENSP00000393198||E9PB28.82|UPI0001881B51||||||||0.5407|0.2095|0.634|0.7718|0.5905|0.6329||||||||||0.4957|0.256|0.5155|0.6427|0.6272|0.7654|0.5268|0.5637|0.5651|0.5244|0.6382|0.7718|EAS|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKVGSRPGVRGATGGREGRGTQPVPDPQSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,T|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000481869|retained_intron||||||||||rs1936360|635|-1||SNV|HGNC|HGNC:24149||||2||||||||||||||0.5407|0.2095|0.634|0.7718|0.5905|0.6329||||||||||0.4957|0.256|0.5155|0.6427|0.6272|0.7654|0.5268|0.5637|0.5651|0.5244|0.6382|0.7718|EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000484667|protein_coding||||||||||rs1936360|750|-1||SNV|HGNC|HGNC:24149||||3||CCDS90837.1|ENSP00000425085||D6REB3.81|UPI0001D3BBEE||||||||0.5407|0.2095|0.634|0.7718|0.5905|0.6329||||||||||0.4957|0.256|0.5155|0.6427|0.6272|0.7654|0.5268|0.5637|0.5651|0.5244|0.6382|0.7718|EAS|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,T|upstream_gene_variant|MODIFIER||ENSG00000272512|Transcript|ENST00000606034|lncRNA||||||||||rs1936360|2680|-1||SNV|||YES|||||||||||||||||0.5407|0.2095|0.634|0.7718|0.5905|0.6329||||||||||0.4957|0.256|0.5155|0.6427|0.6272|0.7654|0.5268|0.5637|0.5651|0.5244|0.6382|0.7718|EAS|||||||||||||,T|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding||||||||||rs1936360|414|1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||0.5407|0.2095|0.634|0.7718|0.5905|0.6329||||||||||0.4957|0.256|0.5155|0.6427|0.6272|0.7654|0.5268|0.5637|0.5651|0.5244|0.6382|0.7718|EAS|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,T|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding||||||||||rs1936360|407|1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||0.5407|0.2095|0.634|0.7718|0.5905|0.6329||||||||||0.4957|0.256|0.5155|0.6427|0.6272|0.7654|0.5268|0.5637|0.5651|0.5244|0.6382|0.7718|EAS|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000118|promoter||||||||||rs1936360||||SNV||||||||||||||||||||0.5407|0.2095|0.634|0.7718|0.5905|0.6329||||||||||0.4957|0.256|0.5155|0.6427|0.6272|0.7654|0.5268|0.5637|0.5651|0.5244|0.6382|0.7718|EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:24,27:0.5:51:4,1:10,12:14,14:10,14,13,14 -chr1 1000814 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|14%2C20;DP=34;ECNT=3;GERMQ=93;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=11;POPAF=7.3;TLOD=127.94;SRC=snv;GRP=s001;CSQ=G|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000304952|protein_coding||||||||||rs3121570|717|-1||SNV|HGNC|HGNC:24149|YES|NM_021170.4||1|P1|CCDS5.1|ENSP00000304595|Q9HCC6.164||UPI000006EC19||||||||0.6883|0.3555|0.7925|0.8591|0.7903|0.7832||||||||||0.6922|0.4098|0.767|0.7977|0.7656|0.8794|0.7975|0.7166|0.7979|0.7022|0.7901|0.8794|gnomADg_EAS|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,G|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000428771|protein_coding||||||||||rs3121570|642|-1||SNV|HGNC|HGNC:24149||||2||CCDS44034.1|ENSP00000393198||E9PB28.82|UPI0001881B51||||||||0.6883|0.3555|0.7925|0.8591|0.7903|0.7832||||||||||0.6922|0.4098|0.767|0.7977|0.7656|0.8794|0.7975|0.7166|0.7979|0.7022|0.7901|0.8794|gnomADg_EAS|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKVGSRPGVRGATGGREGRGTQPVPDPQSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,G|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000481869|retained_intron||||||||||rs3121570|718|-1||SNV|HGNC|HGNC:24149||||2||||||||||||||0.6883|0.3555|0.7925|0.8591|0.7903|0.7832||||||||||0.6922|0.4098|0.767|0.7977|0.7656|0.8794|0.7975|0.7166|0.7979|0.7022|0.7901|0.8794|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000484667|protein_coding||||||||||rs3121570|833|-1||SNV|HGNC|HGNC:24149||||3||CCDS90837.1|ENSP00000425085||D6REB3.81|UPI0001D3BBEE||||||||0.6883|0.3555|0.7925|0.8591|0.7903|0.7832||||||||||0.6922|0.4098|0.767|0.7977|0.7656|0.8794|0.7975|0.7166|0.7979|0.7022|0.7901|0.8794|gnomADg_EAS|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,G|upstream_gene_variant|MODIFIER||ENSG00000272512|Transcript|ENST00000606034|lncRNA||||||||||rs3121570|2763|-1||SNV|||YES|||||||||||||||||0.6883|0.3555|0.7925|0.8591|0.7903|0.7832||||||||||0.6922|0.4098|0.767|0.7977|0.7656|0.8794|0.7975|0.7166|0.7979|0.7022|0.7901|0.8794|gnomADg_EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding||||||||||rs3121570|331|1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||0.6883|0.3555|0.7925|0.8591|0.7903|0.7832||||||||||0.6922|0.4098|0.767|0.7977|0.7656|0.8794|0.7975|0.7166|0.7979|0.7022|0.7901|0.8794|gnomADg_EAS|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,G|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding||||||||||rs3121570|324|1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||0.6883|0.3555|0.7925|0.8591|0.7903|0.7832||||||||||0.6922|0.4098|0.767|0.7977|0.7656|0.8794|0.7975|0.7166|0.7979|0.7022|0.7901|0.8794|gnomADg_EAS|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000118|promoter||||||||||rs3121570||||SNV||||||||||||||||||||0.6883|0.3555|0.7925|0.8591|0.7903|0.7832||||||||||0.6922|0.4098|0.767|0.7977|0.7656|0.8794|0.7975|0.7166|0.7979|0.7022|0.7901|0.8794|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,34:0.957:34:0,1:0,14:0,21:0,0,14,20 -chr1 1000830 . C A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|7%2C9;DP=18;ECNT=3;GERMQ=87;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=25;POPAF=7.3;TLOD=57.77;SRC=snv;GRP=s001;CSQ=A|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000304952|protein_coding||||||||||rs3121569|733|-1||SNV|HGNC|HGNC:24149|YES|NM_021170.4||1|P1|CCDS5.1|ENSP00000304595|Q9HCC6.164||UPI000006EC19||||||||0.8029|0.7292|0.8213|0.9147|0.7903|0.7873||||||||||0.7921|0.747|0.7675|0.837|0.7718|0.9289|0.7973|0.7484|0.8001|0.7708|0.7982|0.9289|gnomADg_EAS|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,A|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000428771|protein_coding||||||||||rs3121569|658|-1||SNV|HGNC|HGNC:24149||||2||CCDS44034.1|ENSP00000393198||E9PB28.82|UPI0001881B51||||||||0.8029|0.7292|0.8213|0.9147|0.7903|0.7873||||||||||0.7921|0.747|0.7675|0.837|0.7718|0.9289|0.7973|0.7484|0.8001|0.7708|0.7982|0.9289|gnomADg_EAS|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKVGSRPGVRGATGGREGRGTQPVPDPQSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,A|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000481869|retained_intron||||||||||rs3121569|734|-1||SNV|HGNC|HGNC:24149||||2||||||||||||||0.8029|0.7292|0.8213|0.9147|0.7903|0.7873||||||||||0.7921|0.747|0.7675|0.837|0.7718|0.9289|0.7973|0.7484|0.8001|0.7708|0.7982|0.9289|gnomADg_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000484667|protein_coding||||||||||rs3121569|849|-1||SNV|HGNC|HGNC:24149||||3||CCDS90837.1|ENSP00000425085||D6REB3.81|UPI0001D3BBEE||||||||0.8029|0.7292|0.8213|0.9147|0.7903|0.7873||||||||||0.7921|0.747|0.7675|0.837|0.7718|0.9289|0.7973|0.7484|0.8001|0.7708|0.7982|0.9289|gnomADg_EAS|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,A|upstream_gene_variant|MODIFIER||ENSG00000272512|Transcript|ENST00000606034|lncRNA||||||||||rs3121569|2779|-1||SNV|||YES|||||||||||||||||0.8029|0.7292|0.8213|0.9147|0.7903|0.7873||||||||||0.7921|0.747|0.7675|0.837|0.7718|0.9289|0.7973|0.7484|0.8001|0.7708|0.7982|0.9289|gnomADg_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding||||||||||rs3121569|315|1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||0.8029|0.7292|0.8213|0.9147|0.7903|0.7873||||||||||0.7921|0.747|0.7675|0.837|0.7718|0.9289|0.7973|0.7484|0.8001|0.7708|0.7982|0.9289|gnomADg_EAS|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,A|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding||||||||||rs3121569|308|1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||0.8029|0.7292|0.8213|0.9147|0.7903|0.7873||||||||||0.7921|0.747|0.7675|0.837|0.7718|0.9289|0.7973|0.7484|0.8001|0.7708|0.7982|0.9289|gnomADg_EAS|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000118|promoter||||||||||rs3121569||||SNV||||||||||||||||||||0.8029|0.7292|0.8213|0.9147|0.7903|0.7873||||||||||0.7921|0.747|0.7675|0.837|0.7718|0.9289|0.7973|0.7484|0.8001|0.7708|0.7982|0.9289|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,16:0.919:16:0,0:0,7:0,10:0,0,7,9 -chr1 1001107 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=61;POPAF=7.3;TLOD=7.35;SRC=snv;GRP=s001;CSQ=G|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000304952|protein_coding||||||||||rs116607870|1010|-1||SNV|HGNC|HGNC:24149|YES|NM_021170.4||1|P1|CCDS5.1|ENSP00000304595|Q9HCC6.164||UPI000006EC19||||||||0.0162|0.0008|0.0173|0|0.0427|0.0256||||||||||0.02701|0.006054|0.07566|0.02087|0.02131|0|0.03873|0.03846|0.0412|0.02199|0.02607|0.07566|gnomADg_AMI|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,G|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000428771|protein_coding||||||||||rs116607870|935|-1||SNV|HGNC|HGNC:24149||||2||CCDS44034.1|ENSP00000393198||E9PB28.82|UPI0001881B51||||||||0.0162|0.0008|0.0173|0|0.0427|0.0256||||||||||0.02701|0.006054|0.07566|0.02087|0.02131|0|0.03873|0.03846|0.0412|0.02199|0.02607|0.07566|gnomADg_AMI|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKVGSRPGVRGATGGREGRGTQPVPDPQSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,G|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000481869|retained_intron||||||||||rs116607870|1011|-1||SNV|HGNC|HGNC:24149||||2||||||||||||||0.0162|0.0008|0.0173|0|0.0427|0.0256||||||||||0.02701|0.006054|0.07566|0.02087|0.02131|0|0.03873|0.03846|0.0412|0.02199|0.02607|0.07566|gnomADg_AMI|||||||||||||,G|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000484667|protein_coding||||||||||rs116607870|1126|-1||SNV|HGNC|HGNC:24149||||3||CCDS90837.1|ENSP00000425085||D6REB3.81|UPI0001D3BBEE||||||||0.0162|0.0008|0.0173|0|0.0427|0.0256||||||||||0.02701|0.006054|0.07566|0.02087|0.02131|0|0.03873|0.03846|0.0412|0.02199|0.02607|0.07566|gnomADg_AMI|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,G|upstream_gene_variant|MODIFIER||ENSG00000272512|Transcript|ENST00000606034|lncRNA||||||||||rs116607870|3056|-1||SNV|||YES|||||||||||||||||0.0162|0.0008|0.0173|0|0.0427|0.0256||||||||||0.02701|0.006054|0.07566|0.02087|0.02131|0|0.03873|0.03846|0.0412|0.02199|0.02607|0.07566|gnomADg_AMI|||||||||||||,G|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding||||||||||rs116607870|38|1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||0.0162|0.0008|0.0173|0|0.0427|0.0256||||||||||0.02701|0.006054|0.07566|0.02087|0.02131|0|0.03873|0.03846|0.0412|0.02199|0.02607|0.07566|gnomADg_AMI|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,G|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding||||||||||rs116607870|31|1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||0.0162|0.0008|0.0173|0|0.0427|0.0256||||||||||0.02701|0.006054|0.07566|0.02087|0.02131|0|0.03873|0.03846|0.0412|0.02199|0.02607|0.07566|gnomADg_AMI|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000118|promoter||||||||||rs116607870||||SNV||||||||||||||||||||0.0162|0.0008|0.0173|0|0.0427|0.0256||||||||||0.02701|0.006054|0.07566|0.02087|0.02131|0|0.03873|0.03846|0.0412|0.02199|0.02607|0.07566|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1002308 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=20;POPAF=7.3;TLOD=7.65;SRC=snv;GRP=s001;CSQ=C|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000304952|protein_coding||||||||||rs2489000|2211|-1||SNV|HGNC|HGNC:24149|YES|NM_021170.4||1|P1|CCDS5.1|ENSP00000304595|Q9HCC6.164||UPI000006EC19||||||||0.9289|0.8124|0.9438|0.999|0.9573|0.9744||||||||||0.929|0.8395|0.9803|0.9502|0.9415|0.9998|0.9788|0.914|0.9608|0.934|0.9724|0.9998|gnomADg_EAS|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,C|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000428771|protein_coding||||||||||rs2489000|2136|-1||SNV|HGNC|HGNC:24149||||2||CCDS44034.1|ENSP00000393198||E9PB28.82|UPI0001881B51||||||||0.9289|0.8124|0.9438|0.999|0.9573|0.9744||||||||||0.929|0.8395|0.9803|0.9502|0.9415|0.9998|0.9788|0.914|0.9608|0.934|0.9724|0.9998|gnomADg_EAS|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKVGSRPGVRGATGGREGRGTQPVPDPQSSKPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,C|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000481869|retained_intron||||||||||rs2489000|2212|-1||SNV|HGNC|HGNC:24149||||2||||||||||||||0.9289|0.8124|0.9438|0.999|0.9573|0.9744||||||||||0.929|0.8395|0.9803|0.9502|0.9415|0.9998|0.9788|0.914|0.9608|0.934|0.9724|0.9998|gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|HES4|ENSG00000188290|Transcript|ENST00000484667|protein_coding||||||||||rs2489000|2327|-1||SNV|HGNC|HGNC:24149||||3||CCDS90837.1|ENSP00000425085||D6REB3.81|UPI0001D3BBEE||||||||0.9289|0.8124|0.9438|0.999|0.9573|0.9744||||||||||0.929|0.8395|0.9803|0.9502|0.9415|0.9998|0.9788|0.914|0.9608|0.934|0.9724|0.9998|gnomADg_EAS|||||||||||MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR||,C|upstream_gene_variant|MODIFIER||ENSG00000272512|Transcript|ENST00000606034|lncRNA||||||||||rs2489000|4257|-1||SNV|||YES|||||||||||||||||0.9289|0.8124|0.9438|0.999|0.9573|0.9744||||||||||0.929|0.8395|0.9803|0.9502|0.9415|0.9998|0.9788|0.914|0.9608|0.934|0.9724|0.9998|gnomADg_EAS|||||||||||||,C|intron_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding||1/2|ENST00000624652.1:c.-108+1045T>C|||||||rs2489000||1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||0.9289|0.8124|0.9438|0.999|0.9573|0.9744||||||||||0.929|0.8395|0.9803|0.9502|0.9415|0.9998|0.9788|0.914|0.9608|0.934|0.9724|0.9998|gnomADg_EAS|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,C|intron_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding||1/2|ENST00000624697.4:c.-108+1027T>C|||||||rs2489000||1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||0.9289|0.8124|0.9438|0.999|0.9573|0.9744||||||||||0.929|0.8395|0.9803|0.9502|0.9415|0.9998|0.9788|0.914|0.9608|0.934|0.9724|0.9998|gnomADg_EAS|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000118|promoter||||||||||rs2489000||||SNV||||||||||||||||||||0.9289|0.8124|0.9438|0.999|0.9573|0.9744||||||||||0.929|0.8395|0.9803|0.9502|0.9415|0.9998|0.9788|0.914|0.9608|0.934|0.9724|0.9998|gnomADg_EAS|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000249808|CTCF_binding_site||||||||||rs2489000||||SNV||||||||||||||||||||0.9289|0.8124|0.9438|0.999|0.9573|0.9744||||||||||0.929|0.8395|0.9803|0.9502|0.9415|0.9998|0.9788|0.914|0.9608|0.934|0.9724|0.9998|gnomADg_EAS|||||||||||||,C|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00522112926|||||||||||rs2489000||-1||SNV||||||||||||||||||||0.9289|0.8124|0.9438|0.999|0.9573|0.9744||||||||||0.929|0.8395|0.9803|0.9502|0.9415|0.9998|0.9788|0.914|0.9608|0.934|0.9724|0.9998|gnomADg_EAS|||||ENSPFM0017|4|Y|-0.104|JDP2&NFE2&BACH1|||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1009083 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C1;DP=4;ECNT=1;GERMQ=37;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=30;POPAF=7.3;TLOD=6.65;SRC=snv;GRP=s001;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000231702|Transcript|ENST00000423619|processed_pseudogene|||||||||||854|-1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000224969|Transcript|ENST00000458555|lncRNA|||||||||||2914|-1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding||2/2|ENST00000624652.1:c.-22+804A>G|||||||||1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||||||||||||||||||||||||||||||||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,G|intron_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding||2/2|ENST00000624697.4:c.-22+804A>G|||||||||1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||||||||||||||||||||||||||||||||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,G|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000649529|protein_coding|||||||||||4414|1||SNV|HGNC|HGNC:4053|YES|NM_005101.4|||P1|CCDS6.1|ENSP00000496832|P05161.233||UPI0000048D70||1||||||||||||||||||||||||||||||||||||||||||||MGWDLTVKMLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000918389|enhancer||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.5:4:0,0:1,1:1,1:1,1,1,1 -chr1 1012158 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C3;DP=5;ECNT=1;GERMQ=55;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=53;POPAF=7.3;TLOD=17.15;SRC=snv;GRP=s001;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000231702|Transcript|ENST00000423619|processed_pseudogene||||||||||rs2465125|3929|-1||SNV|||YES|||||||||||||||||0.7965|0.4107|0.9049|0.9226|0.9433|0.9601||||||||||0.8123|0.4766|0.9737|0.9058|0.9061|0.9229|0.9549|0.8639|0.9471|0.8421|0.9445|0.9737|gnomADg_AMI|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000224969|Transcript|ENST00000458555|lncRNA|2/2||ENST00000458555.1:n.310G>A||310|||||rs2465125||-1||SNV|||YES|||2||||||||||||||0.7965|0.4107|0.9049|0.9226|0.9433|0.9601||||||||||0.8123|0.4766|0.9737|0.9058|0.9061|0.9229|0.9549|0.8639|0.9471|0.8421|0.9445|0.9737|gnomADg_AMI|||||||||||||,T|intron_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding||2/2|ENST00000624652.1:c.-21-1826C>T|||||||rs2465125||1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||0.7965|0.4107|0.9049|0.9226|0.9433|0.9601||||||||||0.8123|0.4766|0.9737|0.9058|0.9061|0.9229|0.9549|0.8639|0.9471|0.8421|0.9445|0.9737|gnomADg_AMI|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,T|intron_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding||2/2|ENST00000624697.4:c.-21-1826C>T|||||||rs2465125||1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||0.7965|0.4107|0.9049|0.9226|0.9433|0.9601||||||||||0.8123|0.4766|0.9737|0.9058|0.9061|0.9229|0.9549|0.8639|0.9471|0.8421|0.9445|0.9737|gnomADg_AMI|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,T|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000649529|protein_coding||||||||||rs2465125|1339|1||SNV|HGNC|HGNC:4053|YES|NM_005101.4|||P1|CCDS6.1|ENSP00000496832|P05161.233||UPI0000048D70||1||||||0.7965|0.4107|0.9049|0.9226|0.9433|0.9601||||||||||0.8123|0.4766|0.9737|0.9058|0.9061|0.9229|0.9549|0.8639|0.9471|0.8421|0.9445|0.9737|gnomADg_AMI|||||||||||MGWDLTVKMLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.8:5:0,1:0,2:0,3:0,0,2,3 -chr1 1013312 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C1;DP=4;ECNT=1;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=59;POPAF=7.3;TLOD=10.65;SRC=snv;GRP=s001;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000224969|Transcript|ENST00000458555|lncRNA||||||||||rs2341365|119|-1||SNV|||YES|||2||||||||||||||0.8157|0.4637|0.9121|0.9236|0.9553|0.9683||||||||||0.8282|0.5148|0.9803|0.9115|0.9064|0.9229|0.9554|0.8734|0.9566|0.8566|0.9507|0.9803|gnomADg_AMI|||||||||||||,A|intron_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding||2/2|ENST00000624652.1:c.-21-672G>A|||||||rs2341365||1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||0.8157|0.4637|0.9121|0.9236|0.9553|0.9683||||||||||0.8282|0.5148|0.9803|0.9115|0.9064|0.9229|0.9554|0.8734|0.9566|0.8566|0.9507|0.9803|gnomADg_AMI|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,A|intron_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding||2/2|ENST00000624697.4:c.-21-672G>A|||||||rs2341365||1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||0.8157|0.4637|0.9121|0.9236|0.9553|0.9683||||||||||0.8282|0.5148|0.9803|0.9115|0.9064|0.9229|0.9554|0.8734|0.9566|0.8566|0.9507|0.9803|gnomADg_AMI|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,A|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000649529|protein_coding||||||||||rs2341365|185|1||SNV|HGNC|HGNC:4053|YES|NM_005101.4|||P1|CCDS6.1|ENSP00000496832|P05161.233||UPI0000048D70||1||||||0.8157|0.4637|0.9121|0.9236|0.9553|0.9683||||||||||0.8282|0.5148|0.9803|0.9115|0.9064|0.9229|0.9554|0.8734|0.9566|0.8566|0.9507|0.9803|gnomADg_AMI|||||||||||MGWDLTVKMLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164809|promoter||||||||||rs2341365||||SNV||||||||||||||||||||0.8157|0.4637|0.9121|0.9236|0.9553|0.9683||||||||||0.8282|0.5148|0.9803|0.9115|0.9064|0.9229|0.9554|0.8734|0.9566|0.8566|0.9507|0.9803|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,0:0,2:0,2:0,0,2,1 -chr1 1013490 . C G . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C1;DP=4;ECNT=3;GERMQ=52;MBQ=0,30;MFRL=0,0;MMQ=60,60;MPOS=77;POPAF=7.3;TLOD=17.4;SRC=snv;GRP=s001;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000224969|Transcript|ENST00000458555|lncRNA||||||||||rs4615788|297|-1||SNV|||YES|||2||||||||||||||0.9030|0.7194|0.9308|0.999|0.9573|0.9765||||||||||0.8985|0.7417|0.9813|0.9357|0.9101|0.9998|0.9755|0.8861|0.9587|0.9067|0.9675|0.9998|gnomADg_EAS|benign||1|34814699&34648354&36168886|||||||||,G|intron_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding||2/2|ENST00000624652.1:c.-21-494C>G|||||||rs4615788||1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||0.9030|0.7194|0.9308|0.999|0.9573|0.9765||||||||||0.8985|0.7417|0.9813|0.9357|0.9101|0.9998|0.9755|0.8861|0.9587|0.9067|0.9675|0.9998|gnomADg_EAS|benign||1|34814699&34648354&36168886|||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,G|intron_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding||2/2|ENST00000624697.4:c.-21-494C>G|||||||rs4615788||1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||0.9030|0.7194|0.9308|0.999|0.9573|0.9765||||||||||0.8985|0.7417|0.9813|0.9357|0.9101|0.9998|0.9755|0.8861|0.9587|0.9067|0.9675|0.9998|gnomADg_EAS|benign||1|34814699&34648354&36168886|||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,G|upstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000649529|protein_coding||||||||||rs4615788|7|1||SNV|HGNC|HGNC:4053|YES|NM_005101.4|||P1|CCDS6.1|ENSP00000496832|P05161.233||UPI0000048D70||1||||||0.9030|0.7194|0.9308|0.999|0.9573|0.9765||||||||||0.8985|0.7417|0.9813|0.9357|0.9101|0.9998|0.9755|0.8861|0.9587|0.9067|0.9675|0.9998|gnomADg_EAS|benign||1|34814699&34648354&36168886|||||||MGWDLTVKMLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164809|promoter||||||||||rs4615788||||SNV||||||||||||||||||||0.9030|0.7194|0.9308|0.999|0.9573|0.9765||||||||||0.8985|0.7417|0.9813|0.9357|0.9101|0.9998|0.9755|0.8861|0.9587|0.9067|0.9675|0.9998|gnomADg_EAS|benign||1|34814699&34648354&36168886||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,4:0.8:4:0,0:0,3:0,3:0|1:1013466_T_TA:1013466:0,0,3,1 -chr1 1013541 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|46%2C3;DP=52;ECNT=3;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=28;POPAF=7.3;TLOD=179.34;SRC=snv;GRP=s001;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000224969|Transcript|ENST00000458555|lncRNA||||||||||rs15842|348|-1||SNV|||YES|||2||||||||||||||0.9032|0.7201|0.9308|0.999|0.9573|0.9765|0.9457|0.7382|0.9581|0.9043|0.9998|0.9713|0.9578|0.9377|0.9608|0.8988|0.7432|0.9802|0.9357|0.9101|0.9998|0.9755|0.8861|0.9588|0.9067|0.9679|0.9998|gnomADe_EAS&gnomADg_EAS|benign||1|26563749&25919455|||||||||,C|intron_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding||2/2|ENST00000624652.1:c.-21-443T>C|||||||rs15842||1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||0.9032|0.7201|0.9308|0.999|0.9573|0.9765|0.9457|0.7382|0.9581|0.9043|0.9998|0.9713|0.9578|0.9377|0.9608|0.8988|0.7432|0.9802|0.9357|0.9101|0.9998|0.9755|0.8861|0.9588|0.9067|0.9679|0.9998|gnomADe_EAS&gnomADg_EAS|benign||1|26563749&25919455|||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,C|intron_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding||2/2|ENST00000624697.4:c.-21-443T>C|||||||rs15842||1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||0.9032|0.7201|0.9308|0.999|0.9573|0.9765|0.9457|0.7382|0.9581|0.9043|0.9998|0.9713|0.9578|0.9377|0.9608|0.8988|0.7432|0.9802|0.9357|0.9101|0.9998|0.9755|0.8861|0.9588|0.9067|0.9679|0.9998|gnomADe_EAS&gnomADg_EAS|benign||1|26563749&25919455|||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,C|5_prime_UTR_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000649529|protein_coding|1/2||ENST00000649529.1:c.-33T>C||45|||||rs15842||1||SNV|HGNC|HGNC:4053|YES|NM_005101.4|||P1|CCDS6.1|ENSP00000496832|P05161.233||UPI0000048D70||1||||||0.9032|0.7201|0.9308|0.999|0.9573|0.9765|0.9457|0.7382|0.9581|0.9043|0.9998|0.9713|0.9578|0.9377|0.9608|0.8988|0.7432|0.9802|0.9357|0.9101|0.9998|0.9755|0.8861|0.9588|0.9067|0.9679|0.9998|gnomADe_EAS&gnomADg_EAS|benign||1|26563749&25919455|||||||MGWDLTVKMLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164809|promoter||||||||||rs15842||||SNV||||||||||||||||||||0.9032|0.7201|0.9308|0.999|0.9573|0.9765|0.9457|0.7382|0.9581|0.9043|0.9998|0.9713|0.9578|0.9377|0.9608|0.8988|0.7432|0.9802|0.9357|0.9101|0.9998|0.9755|0.8861|0.9588|0.9067|0.9679|0.9998|gnomADe_EAS&gnomADg_EAS|benign||1|26563749&25919455||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,49:0.98:49:0,0:0,46:0,47:0,0,46,3 -chr1 1013855 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C6;DP=12;ECNT=1;GERMQ=69;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=77;POPAF=7.3;TLOD=35.6;SRC=snv;GRP=s001;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000224969|Transcript|ENST00000458555|lncRNA||||||||||rs2465124|662|-1||SNV|||YES|||2||||||||||||||0.8998|0.7073|0.9308|0.999|0.9573|0.9765||||||||||0.8951|0.7306|0.9803|0.9333|0.9101|0.9998|0.9755|0.8861|0.9586|0.9057|0.9681|0.9998|gnomADg_EAS|benign||1||||||||||,A|intron_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding||2/2|ENST00000624652.1:c.-21-129G>A|||||||rs2465124||1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||0.8998|0.7073|0.9308|0.999|0.9573|0.9765||||||||||0.8951|0.7306|0.9803|0.9333|0.9101|0.9998|0.9755|0.8861|0.9586|0.9057|0.9681|0.9998|gnomADg_EAS|benign||1||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,A|intron_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding||2/2|ENST00000624697.4:c.-21-129G>A|||||||rs2465124||1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||0.8998|0.7073|0.9308|0.999|0.9573|0.9765||||||||||0.8951|0.7306|0.9803|0.9333|0.9101|0.9998|0.9755|0.8861|0.9586|0.9057|0.9681|0.9998|gnomADg_EAS|benign||1||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,A|intron_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000649529|protein_coding||1/1|ENST00000649529.1:c.4-129G>A|||||||rs2465124||1||SNV|HGNC|HGNC:4053|YES|NM_005101.4|||P1|CCDS6.1|ENSP00000496832|P05161.233||UPI0000048D70||1||||||0.8998|0.7073|0.9308|0.999|0.9573|0.9765||||||||||0.8951|0.7306|0.9803|0.9333|0.9101|0.9998|0.9755|0.8861|0.9586|0.9057|0.9681|0.9998|gnomADg_EAS|benign||1||||||||MGWDLTVKMLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164809|promoter||||||||||rs2465124||||SNV||||||||||||||||||||0.8998|0.7073|0.9308|0.999|0.9573|0.9765||||||||||0.8951|0.7306|0.9803|0.9333|0.9101|0.9998|0.9755|0.8861|0.9586|0.9057|0.9681|0.9998|gnomADg_EAS|benign||1|||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,10:0.88:10:0,1:0,4:0,6:0,0,4,6 -chr1 1014228 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=122%2C149|32%2C42;DP=366;ECNT=2;GERMQ=93;MBQ=34,32;MFRL=0,0;MMQ=60,60;MPOS=72;POPAF=7.3;TLOD=216.65;SRC=snv;GRP=s001;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000224969|Transcript|ENST00000458555|lncRNA||||||||||rs1921&COSV65106391|1035|-1||SNV|||YES|||2||||||||||||||0.3389|0.4387|0.2709|0.1845|0.3926|0.3558|0.3593|0.4146|0.2452|0.3142|0.1998|0.4674|0.4004|0.3684|0.3404|0.3838|0.4058|0.3893|0.2813|0.3095|0.2027|0.4815|0.328|0.3989|0.3676|0.3489|0.4815|gnomADg_FIN|not_provided&benign|0&1|1&1|24033266&26563749&27626177&32936528&36168886|||||||||,A|missense_variant|MODERATE|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding|3/3||ENST00000624652.1:c.224G>A|ENSP00000485313.1:p.Ser75Asn|450|224|75|S/N|aGc/aAc|rs1921&COSV65106391||1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1|tolerated(0.31)|benign(0.005)||||0.3389|0.4387|0.2709|0.1845|0.3926|0.3558|0.3593|0.4146|0.2452|0.3142|0.1998|0.4674|0.4004|0.3684|0.3404|0.3838|0.4058|0.3893|0.2813|0.3095|0.2027|0.4815|0.328|0.3989|0.3676|0.3489|0.4815|gnomADg_FIN|not_provided&benign|0&1|1&1|24033266&26563749&27626177&32936528&36168886|||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,A|missense_variant|MODERATE|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding|3/3||ENST00000624697.4:c.224G>A|ENSP00000485643.1:p.Ser75Asn|475|224|75|S/N|aGc/aAc|rs1921&COSV65106391||1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1|tolerated(0.31)|benign(0.005)||||0.3389|0.4387|0.2709|0.1845|0.3926|0.3558|0.3593|0.4146|0.2452|0.3142|0.1998|0.4674|0.4004|0.3684|0.3404|0.3838|0.4058|0.3893|0.2813|0.3095|0.2027|0.4815|0.328|0.3989|0.3676|0.3489|0.4815|gnomADg_FIN|not_provided&benign|0&1|1&1|24033266&26563749&27626177&32936528&36168886|||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,A|missense_variant|MODERATE|ISG15|ENSG00000187608|Transcript|ENST00000649529|protein_coding|2/2||ENST00000649529.1:c.248G>A|ENSP00000496832.1:p.Ser83Asn|325|248|83|S/N|aGc/aAc|rs1921&COSV65106391||1||SNV|HGNC|HGNC:4053|YES|NM_005101.4|||P1|CCDS6.1|ENSP00000496832|P05161.233||UPI0000048D70||1|tolerated(0.32)|benign(0.005)|PDB-ENSP_mappings:1z2m.A&PDB-ENSP_mappings:2hj8.A&PDB-ENSP_mappings:3phx.B&PDB-ENSP_mappings:3pse.B&PDB-ENSP_mappings:3r66.C&PDB-ENSP_mappings:3r66.D&PDB-ENSP_mappings:3rt3.B&PDB-ENSP_mappings:3sdl.C&PDB-ENSP_mappings:3sdl.D&PDB-ENSP_mappings:5tl6.A&PDB-ENSP_mappings:5tl6.C&PDB-ENSP_mappings:5w8t.B&PDB-ENSP_mappings:5w8t.D&PDB-ENSP_mappings:5w8u.B&PDB-ENSP_mappings:5w8u.D&PDB-ENSP_mappings:6bi8.C&PDB-ENSP_mappings:6bi8.D&PDB-ENSP_mappings:6ffa.B&PDB-ENSP_mappings:6xa9.B&PDB-ENSP_mappings:6xa9.D&PDB-ENSP_mappings:6xa9.F&PDB-ENSP_mappings:7rbs.B&PDB-ENSP_mappings:7rbs.D&PDB-ENSP_mappings:7rbs.F&PDB-ENSP_mappings:7rbs.H&PDB-ENSP_mappings:7rbs.J&PDB-ENSP_mappings:7s6p.A&PDB-ENSP_mappings:7s6p.B&PDB-ENSP_mappings:7s6p.C&PDB-ENSP_mappings:7s6p.D&PDB-ENSP_mappings:7s6p.E&PDB-ENSP_mappings:7s6p.F|||0.3389|0.4387|0.2709|0.1845|0.3926|0.3558|0.3593|0.4146|0.2452|0.3142|0.1998|0.4674|0.4004|0.3684|0.3404|0.3838|0.4058|0.3893|0.2813|0.3095|0.2027|0.4815|0.328|0.3989|0.3676|0.3489|0.4815|gnomADg_FIN|not_provided&benign|0&1|1&1|24033266&26563749&27626177&32936528&36168886|||||||MGWDLTVKMLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164809|promoter||||||||||rs1921&COSV65106391||||SNV||||||||||||||||||||0.3389|0.4387|0.2709|0.1845|0.3926|0.3558|0.3593|0.4146|0.2452|0.3142|0.1998|0.4674|0.4004|0.3684|0.3404|0.3838|0.4058|0.3893|0.2813|0.3095|0.2027|0.4815|0.328|0.3989|0.3676|0.3489|0.4815|gnomADg_FIN|not_provided&benign|0&1|1&1|24033266&26563749&27626177&32936528&36168886||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:271,74:0.243:345:30,16:122,32:161,51:122,149,32,42 -chr1 1014274 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|145%2C150;DP=303;ECNT=2;GERMQ=93;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=94;POPAF=7.3;TLOD=1139.03;SRC=snv;GRP=s001;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000224969|Transcript|ENST00000458555|lncRNA||||||||||rs8997&COSV65106735|1081|-1||SNV|||YES|||2||||||||||||||0.8257|0.5083|0.9179|0.9266|0.9453|0.9622|0.9188|0.561|0.9466|0.8982|0.9262|0.9498|0.9478|0.9208|0.9495|0.8398|0.5693|0.9737|0.9146|0.9055|0.9274|0.9551|0.8703|0.9489|0.8628|0.9518|0.9737|gnomADg_AMI|benign|0&1|1&1||||||||||,G|synonymous_variant|LOW|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding|3/3||ENST00000624652.1:c.270A>G|ENSP00000485313.1:p.Val90%3D|496|270|90|V|gtA/gtG|rs8997&COSV65106735||1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||0.8257|0.5083|0.9179|0.9266|0.9453|0.9622|0.9188|0.561|0.9466|0.8982|0.9262|0.9498|0.9478|0.9208|0.9495|0.8398|0.5693|0.9737|0.9146|0.9055|0.9274|0.9551|0.8703|0.9489|0.8628|0.9518|0.9737|gnomADg_AMI|benign|0&1|1&1||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,G|synonymous_variant|LOW|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding|3/3||ENST00000624697.4:c.270A>G|ENSP00000485643.1:p.Val90%3D|521|270|90|V|gtA/gtG|rs8997&COSV65106735||1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||0.8257|0.5083|0.9179|0.9266|0.9453|0.9622|0.9188|0.561|0.9466|0.8982|0.9262|0.9498|0.9478|0.9208|0.9495|0.8398|0.5693|0.9737|0.9146|0.9055|0.9274|0.9551|0.8703|0.9489|0.8628|0.9518|0.9737|gnomADg_AMI|benign|0&1|1&1||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,G|synonymous_variant|LOW|ISG15|ENSG00000187608|Transcript|ENST00000649529|protein_coding|2/2||ENST00000649529.1:c.294A>G|ENSP00000496832.1:p.Val98%3D|371|294|98|V|gtA/gtG|rs8997&COSV65106735||1||SNV|HGNC|HGNC:4053|YES|NM_005101.4|||P1|CCDS6.1|ENSP00000496832|P05161.233||UPI0000048D70||1|||PDB-ENSP_mappings:1z2m.A&PDB-ENSP_mappings:2hj8.A&PDB-ENSP_mappings:3phx.B&PDB-ENSP_mappings:3pse.B&PDB-ENSP_mappings:3r66.C&PDB-ENSP_mappings:3r66.D&PDB-ENSP_mappings:3rt3.B&PDB-ENSP_mappings:3sdl.C&PDB-ENSP_mappings:3sdl.D&PDB-ENSP_mappings:5tl6.A&PDB-ENSP_mappings:5tl6.C&PDB-ENSP_mappings:5w8t.B&PDB-ENSP_mappings:5w8t.D&PDB-ENSP_mappings:5w8u.B&PDB-ENSP_mappings:5w8u.D&PDB-ENSP_mappings:6bi8.C&PDB-ENSP_mappings:6bi8.D&PDB-ENSP_mappings:6ffa.B&PDB-ENSP_mappings:6xa9.B&PDB-ENSP_mappings:6xa9.D&PDB-ENSP_mappings:6xa9.F&PDB-ENSP_mappings:7rbs.B&PDB-ENSP_mappings:7rbs.D&PDB-ENSP_mappings:7rbs.F&PDB-ENSP_mappings:7rbs.H&PDB-ENSP_mappings:7rbs.J&PDB-ENSP_mappings:7s6p.A&PDB-ENSP_mappings:7s6p.B&PDB-ENSP_mappings:7s6p.C&PDB-ENSP_mappings:7s6p.D&PDB-ENSP_mappings:7s6p.E&PDB-ENSP_mappings:7s6p.F|||0.8257|0.5083|0.9179|0.9266|0.9453|0.9622|0.9188|0.561|0.9466|0.8982|0.9262|0.9498|0.9478|0.9208|0.9495|0.8398|0.5693|0.9737|0.9146|0.9055|0.9274|0.9551|0.8703|0.9489|0.8628|0.9518|0.9737|gnomADg_AMI|benign|0&1|1&1||||||||MGWDLTVKMLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164809|promoter||||||||||rs8997&COSV65106735||||SNV||||||||||||||||||||0.8257|0.5083|0.9179|0.9266|0.9453|0.9622|0.9188|0.561|0.9466|0.8982|0.9262|0.9498|0.9478|0.9208|0.9495|0.8398|0.5693|0.9737|0.9146|0.9055|0.9274|0.9551|0.8703|0.9489|0.8628|0.9518|0.9737|gnomADg_AMI|benign|0&1|1&1|||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,295:0.995:295:0,11:0,143:0,180:0,0,145,150 -chr1 1014545 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C1;DP=4;ECNT=1;GERMQ=52;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=111;POPAF=7.3;TLOD=13.91;SRC=snv;GRP=s001;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000224969|Transcript|ENST00000458555|lncRNA||||||||||rs2799070|1352|-1||SNV|||YES|||2||||||||||||||0.8728|0.6286|0.9265|0.9762|0.9563|0.9724||||||||||0.8751|0.6715|0.9802|0.928|0.8998|0.971|0.9565|0.8703|0.9575|0.8929|0.9625|0.9802|gnomADg_AMI|||||||||||||,T|downstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624652|protein_coding||||||||||rs2799070|110|1|cds_end_NF|SNV|HGNC|HGNC:4053||||3|||ENSP00000485313||A0A096LNZ9.52|UPI00053BD5BA||1||||||0.8728|0.6286|0.9265|0.9762|0.9563|0.9724||||||||||0.8751|0.6715|0.9802|0.928|0.8998|0.971|0.9565|0.8703|0.9575|0.8929|0.9625|0.9802|gnomADg_AMI|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMN||,T|downstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000624697|protein_coding||||||||||rs2799070|5|1||SNV|HGNC|HGNC:4053||||3|||ENSP00000485643||A0A096LPJ4.47|UPI0004F23698||1||||||0.8728|0.6286|0.9265|0.9762|0.9563|0.9724||||||||||0.8751|0.6715|0.9802|0.928|0.8998|0.971|0.9565|0.8703|0.9575|0.8929|0.9625|0.9802|gnomADg_AMI|||||||||||MLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,T|downstream_gene_variant|MODIFIER|ISG15|ENSG00000187608|Transcript|ENST00000649529|protein_coding||||||||||rs2799070|5|1||SNV|HGNC|HGNC:4053|YES|NM_005101.4|||P1|CCDS6.1|ENSP00000496832|P05161.233||UPI0000048D70||1||||||0.8728|0.6286|0.9265|0.9762|0.9563|0.9724||||||||||0.8751|0.6715|0.9802|0.928|0.8998|0.971|0.9565|0.8703|0.9575|0.8929|0.9625|0.9802|gnomADg_AMI|||||||||||MGWDLTVKMLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164809|promoter||||||||||rs2799070||||SNV||||||||||||||||||||0.8728|0.6286|0.9265|0.9762|0.9563|0.9724||||||||||0.8751|0.6715|0.9802|0.928|0.8998|0.971|0.9565|0.8703|0.9575|0.8929|0.9625|0.9802|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.8:4:0,0:0,3:0,3:0,0,3,1 -chr1 1019636 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=50;POPAF=7.3;TLOD=7.45;SRC=snv;GRP=s001;CSQ=G|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||||||||||rs34927559|484|1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.8494|0.6203|0.9078|0.9315|0.9195|0.9611||||||||||0.8393|0.6579|0.9791|0.8994|0.8852|0.9217|0.9306|0.8397|0.9049|0.8571|0.9494|0.9791|gnomADg_AMI|||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||||||||||rs34927559|487|1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.8494|0.6203|0.9078|0.9315|0.9195|0.9611||||||||||0.8393|0.6579|0.9791|0.8994|0.8852|0.9217|0.9306|0.8397|0.9049|0.8571|0.9494|0.9791|gnomADg_AMI|||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000123|promoter||||||||||rs34927559||||SNV||||||||||||||||||||0.8494|0.6203|0.9078|0.9315|0.9195|0.9611||||||||||0.8393|0.6579|0.9791|0.8994|0.8852|0.9217|0.9306|0.8397|0.9049|0.8571|0.9494|0.9791|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1019833 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=115;POPAF=7.3;TLOD=7.48;SRC=snv;GRP=s001;CSQ=C|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||||||||||rs78276138|287|1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|0.9998|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|benign||1||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||||||||||rs78276138|290|1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|0.9998|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|benign||1||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000123|promoter||||||||||rs78276138||||SNV||||||||||||||||||||1.0000|1|1|1|1|1||||||||||0.9999|0.9997|1|1|1|0.9998|1|1|1|1|1|1|AFR&AMR&EAS&EUR&SAS&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|benign||1|||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.75:2:0,1:0,0:0,2:0,0,0,2 -chr1 1020217 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|19%2C17;DP=36;ECNT=1;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=42;POPAF=7.3;TLOD=131.67;SRC=snv;GRP=s001;CSQ=T|synonymous_variant|LOW|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding|1/36||ENST00000379370.7:c.45G>T|ENSP00000368678.2:p.Pro15%3D|98|45|15|P|ccG/ccT|rs115173026||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.2825|0.3132|0.2334|0.1667|0.3489|0.3272|0.3428|0.3172|0.2569|0.3322|0.2351|0.4483|0.3665|0.3535|0.3367|0.3072|0.2628|0.3918|0.2337|0.282|0.1771|0.4346|0.2962|0.3409|0.2964|0.3192|0.4483|gnomADe_FIN|benign||1|25741868|||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|5_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding|1/39||ENST00000620552.4:c.-370G>T||95|||||rs115173026||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.2825|0.3132|0.2334|0.1667|0.3489|0.3272|0.3428|0.3172|0.2569|0.3322|0.2351|0.4483|0.3665|0.3535|0.3367|0.3072|0.2628|0.3918|0.2337|0.282|0.1771|0.4346|0.2962|0.3409|0.2964|0.3192|0.4483|gnomADe_FIN|benign||1|25741868|||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000123|promoter||||||||||rs115173026||||SNV||||||||||||||||||||0.2825|0.3132|0.2334|0.1667|0.3489|0.3272|0.3428|0.3172|0.2569|0.3322|0.2351|0.4483|0.3665|0.3535|0.3367|0.3072|0.2628|0.3918|0.2337|0.282|0.1771|0.4346|0.2962|0.3409|0.2964|0.3192|0.4483|gnomADe_FIN|benign||1|25741868||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,36:0.952:36:0,0:0,19:0,19:0,0,19,17 -chr1 1021740 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C4;DP=6;ECNT=1;GERMQ=58;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=97;POPAF=7.3;TLOD=22.18;SRC=snv;GRP=s001;CSQ=C|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||1/35|ENST00000379370.7:c.202-461G>C|||||||rs3121553&COSV65071505||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.2724|0.27|0.232|0.1667|0.3539|0.3292||||||||||0.3006|0.2324|0.3904|0.2317|0.2844|0.1773|0.4328|0.2943|0.345|0.2929|0.3199|0.4328|gnomADg_FIN||0&1|0&1||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||1/38|ENST00000620552.4:c.-213-461G>C|||||||rs3121553&COSV65071505||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.2724|0.27|0.232|0.1667|0.3539|0.3292||||||||||0.3006|0.2324|0.3904|0.2317|0.2844|0.1773|0.4328|0.2943|0.345|0.2929|0.3199|0.4328|gnomADg_FIN||0&1|0&1||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000123|promoter||||||||||rs3121553&COSV65071505||||SNV||||||||||||||||||||0.2724|0.27|0.232|0.1667|0.3539|0.3292||||||||||0.3006|0.2324|0.3904|0.2317|0.2844|0.1773|0.4328|0.2943|0.345|0.2929|0.3199|0.4328|gnomADg_FIN||0&1|0&1|||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.857:6:0,1:0,2:0,5:0,0,2,4 -chr1 1022388 . A T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=15%2C20|1%2C1;DP=37;ECNT=1;GERMQ=93;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=136;POPAF=7.3;TLOD=4.79;SRC=snv;GRP=s001;CSQ=T|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding|2/36||ENST00000379370.7:c.389A>T|ENSP00000368678.2:p.Asn130Ile|442|389|130|N/I|aAc/aTc|||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1|deleterious_low_confidence(0)|||||||||||||||||||||||||||||||||||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|5_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding|2/39||ENST00000620552.4:c.-26A>T||439|||||||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||||||||||||||||||||||||||||||||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:35,2:0.087:37:4,0:15,1:20,1:15,20,1,1 -chr1 1023525 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=126;POPAF=7.3;TLOD=3.58;SRC=snv;GRP=s001;CSQ=G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||2/35|ENST00000379370.7:c.463+1063A>G|||||||rs2710890||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.3369|0.4629|0.2666|0.1706|0.3718|0.3517||||||||||0.3694|0.4084|0.3947|0.2624|0.3364|0.1837|0.4479|0.3558|0.3755|0.3494|0.3412|0.4629|AFR|||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||2/38|ENST00000620552.4:c.49+1063A>G|||||||rs2710890||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.3369|0.4629|0.2666|0.1706|0.3718|0.3517||||||||||0.3694|0.4084|0.3947|0.2624|0.3364|0.1837|0.4479|0.3558|0.3755|0.3494|0.3412|0.4629|AFR|||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 1026830 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=37;POPAF=7.3;TLOD=7.15;SRC=snv;GRP=s001;CSQ=G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||2/35|ENST00000379370.7:c.463+4368A>G|||||||rs3128126||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.3055|0.2995|0.2622|0.1915|0.3917|0.3732||||||||||0.3561|0.2835|0.4352|0.2784|0.3562|0.2131|0.5076|0.3576|0.4039|0.3491|0.3593|0.5076|gnomADg_FIN||||23048207|||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||2/38|ENST00000620552.4:c.49+4368A>G|||||||rs3128126||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.3055|0.2995|0.2622|0.1915|0.3917|0.3732||||||||||0.3561|0.2835|0.4352|0.2784|0.3562|0.2131|0.5076|0.3576|0.4039|0.3491|0.3593|0.5076|gnomADg_FIN||||23048207|||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1031917 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=64;POPAF=7.3;TLOD=7.35;SRC=snv;GRP=s001;CSQ=A|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||2/35|ENST00000379370.7:c.464-3360C>A|||||||||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||||||||||||||||||||||||||||||||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron|||||||||||2950|1||SNV|HGNC|HGNC:329||||3||||||||1||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||2/38|ENST00000620552.4:c.50-3360C>A|||||||||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||||||||||||||||||||||||||||||||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding|||||||||||2189|1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||||||||||||||||||||||||||||||||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding|||||||||||2189|1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||||||||||||||||||||||||||||||||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1035987 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C1;DP=3;ECNT=1;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=8;POPAF=7.3;TLOD=10.75;SRC=snv;GRP=s001;CSQ=C|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||3/35|ENST00000379370.7:c.511+663T>C|||||||rs2710883||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.9099|0.7663|0.9323|0.999|0.9334|0.9724||||||||||0.8962|0.786|0.9923|0.9319|0.9285|0.9998|0.9596|0.9082|0.9294|0.9048|0.9635|0.9998|gnomADg_EAS|||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|intron_variant&non_coding_transcript_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||1/2|ENST00000469403.1:n.458+663T>C|||||||rs2710883||1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.9099|0.7663|0.9323|0.999|0.9334|0.9724||||||||||0.8962|0.786|0.9923|0.9319|0.9285|0.9998|0.9596|0.9082|0.9294|0.9048|0.9635|0.9998|gnomADg_EAS|||||||||||||,C|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||3/38|ENST00000620552.4:c.97+663T>C|||||||rs2710883||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.9099|0.7663|0.9323|0.999|0.9334|0.9724||||||||||0.8962|0.786|0.9923|0.9319|0.9285|0.9998|0.9596|0.9082|0.9294|0.9048|0.9635|0.9998|gnomADg_EAS|||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||2/37|ENST00000651234.1:c.196+663T>C|||||||rs2710883||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.9099|0.7663|0.9323|0.999|0.9334|0.9724||||||||||0.8962|0.786|0.9923|0.9319|0.9285|0.9998|0.9596|0.9082|0.9294|0.9048|0.9635|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||2/34|ENST00000652369.1:c.196+663T>C|||||||rs2710883||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.9099|0.7663|0.9323|0.999|0.9334|0.9724||||||||||0.8962|0.786|0.9923|0.9319|0.9285|0.9998|0.9596|0.9082|0.9294|0.9048|0.9635|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164812|promoter||||||||||rs2710883||||SNV||||||||||||||||||||0.9099|0.7663|0.9323|0.999|0.9334|0.9724||||||||||0.8962|0.786|0.9923|0.9319|0.9285|0.9998|0.9596|0.9082|0.9294|0.9048|0.9635|0.9998|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,0:0,2:0,2:0,0,2,1 -chr1 1036754 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=3;ECNT=1;GERMQ=46;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=47;POPAF=7.3;TLOD=6.78;SRC=snv;GRP=s001;CSQ=T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||3/35|ENST00000379370.7:c.511+1430C>T|||||||rs3121575||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.8826|0.6815|0.9179|0.999|0.9245|0.9663||||||||||0.8627|0.7102|0.9692|0.9151|0.924|0.9998|0.9534|0.8917|0.9074|0.8791|0.9535|0.9998|gnomADg_EAS|||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|intron_variant&non_coding_transcript_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||1/2|ENST00000469403.1:n.458+1430C>T|||||||rs3121575||1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.8826|0.6815|0.9179|0.999|0.9245|0.9663||||||||||0.8627|0.7102|0.9692|0.9151|0.924|0.9998|0.9534|0.8917|0.9074|0.8791|0.9535|0.9998|gnomADg_EAS|||||||||||||,T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||3/38|ENST00000620552.4:c.97+1430C>T|||||||rs3121575||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.8826|0.6815|0.9179|0.999|0.9245|0.9663||||||||||0.8627|0.7102|0.9692|0.9151|0.924|0.9998|0.9534|0.8917|0.9074|0.8791|0.9535|0.9998|gnomADg_EAS|||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||2/37|ENST00000651234.1:c.196+1430C>T|||||||rs3121575||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.8826|0.6815|0.9179|0.999|0.9245|0.9663||||||||||0.8627|0.7102|0.9692|0.9151|0.924|0.9998|0.9534|0.8917|0.9074|0.8791|0.9535|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||2/34|ENST00000652369.1:c.196+1430C>T|||||||rs3121575||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.8826|0.6815|0.9179|0.999|0.9245|0.9663||||||||||0.8627|0.7102|0.9692|0.9151|0.924|0.9998|0.9534|0.8917|0.9074|0.8791|0.9535|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.75:2:0,0:0,2:0,2:0,0,2,0 -chr1 1037505 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C5|1%2C1;DP=9;ECNT=1;GERMQ=43;MBQ=32,34;MFRL=0,0;MMQ=60,60;MPOS=64;POPAF=7.3;TLOD=6.13;SRC=snv;GRP=s001;CSQ=G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||3/35|ENST00000379370.7:c.511+2181A>G|||||||||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||||||||||||||||||||||||||||||||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant&non_coding_transcript_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||1/2|ENST00000469403.1:n.458+2181A>G|||||||||1||SNV|HGNC|HGNC:329||||3||||||||1||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||3/38|ENST00000620552.4:c.97+2181A>G|||||||||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||||||||||||||||||||||||||||||||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||2/37|ENST00000651234.1:c.196+2181A>G|||||||||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||||||||||||||||||||||||||||||||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||2/34|ENST00000652369.1:c.196+2181A>G|||||||||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||||||||||||||||||||||||||||||||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,2:0.25:9:2,0:2,1:5,1:2,5,1,1 -chr1 1037956 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C3;DP=6;ECNT=3;GERMQ=58;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=60;POPAF=7.3;TLOD=22.26;SRC=snv;GRP=s001;CSQ=G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||3/35|ENST00000379370.7:c.511+2632A>G|||||||rs2488993||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.882|0.7503|0.9857|0.9256|0.9263|0.9998|0.959|0.8987|0.922|0.8905|0.9573|0.9998|gnomADg_EAS|||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant&non_coding_transcript_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||1/2|ENST00000469403.1:n.458+2632A>G|||||||rs2488993||1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.882|0.7503|0.9857|0.9256|0.9263|0.9998|0.959|0.8987|0.922|0.8905|0.9573|0.9998|gnomADg_EAS|||||||||||||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||3/38|ENST00000620552.4:c.97+2632A>G|||||||rs2488993||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.882|0.7503|0.9857|0.9256|0.9263|0.9998|0.959|0.8987|0.922|0.8905|0.9573|0.9998|gnomADg_EAS|||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||2/37|ENST00000651234.1:c.196+2632A>G|||||||rs2488993||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.882|0.7503|0.9857|0.9256|0.9263|0.9998|0.959|0.8987|0.922|0.8905|0.9573|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||2/34|ENST00000652369.1:c.196+2632A>G|||||||rs2488993||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.882|0.7503|0.9857|0.9256|0.9263|0.9998|0.959|0.8987|0.922|0.8905|0.9573|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.8:6:0,0:0,3:0,3:0,0,3,3 -chr1 1037997 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C3;DP=7;ECNT=3;GERMQ=60;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=84;POPAF=7.3;TLOD=25.44;SRC=snv;GRP=s001;CSQ=A|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||3/35|ENST00000379370.7:c.512-2668G>A|||||||rs2465129||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.9024|0.7428|0.928|0.999|0.9334|0.9683||||||||||0.8818|0.7497|0.9857|0.9254|0.9263|0.9998|0.959|0.8987|0.9219|0.8905|0.9574|0.9998|gnomADg_EAS|||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|intron_variant&non_coding_transcript_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||1/2|ENST00000469403.1:n.459-2668G>A|||||||rs2465129||1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.9024|0.7428|0.928|0.999|0.9334|0.9683||||||||||0.8818|0.7497|0.9857|0.9254|0.9263|0.9998|0.959|0.8987|0.9219|0.8905|0.9574|0.9998|gnomADg_EAS|||||||||||||,A|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||3/38|ENST00000620552.4:c.98-2668G>A|||||||rs2465129||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.9024|0.7428|0.928|0.999|0.9334|0.9683||||||||||0.8818|0.7497|0.9857|0.9254|0.9263|0.9998|0.959|0.8987|0.9219|0.8905|0.9574|0.9998|gnomADg_EAS|||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||2/37|ENST00000651234.1:c.197-2668G>A|||||||rs2465129||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.9024|0.7428|0.928|0.999|0.9334|0.9683||||||||||0.8818|0.7497|0.9857|0.9254|0.9263|0.9998|0.959|0.8987|0.9219|0.8905|0.9574|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||2/34|ENST00000652369.1:c.197-2668G>A|||||||rs2465129||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.9024|0.7428|0.928|0.999|0.9334|0.9683||||||||||0.8818|0.7497|0.9857|0.9254|0.9263|0.9998|0.959|0.8987|0.9219|0.8905|0.9574|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,7:0.833:7:0,0:0,4:0,4:0,0,4,3 -chr1 1038078 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C2;DP=5;ECNT=3;GERMQ=55;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=15;POPAF=7.3;TLOD=18.58;SRC=snv;GRP=s001;CSQ=T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||3/35|ENST00000379370.7:c.512-2587C>T|||||||rs2465130||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.8838|0.6846|0.9207|0.999|0.9245|0.9663||||||||||0.8716|0.7142|0.9857|0.9214|0.9263|0.9998|0.9589|0.8924|0.9218|0.8836|0.9575|0.9998|gnomADg_EAS|||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|intron_variant&non_coding_transcript_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||1/2|ENST00000469403.1:n.459-2587C>T|||||||rs2465130||1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.8838|0.6846|0.9207|0.999|0.9245|0.9663||||||||||0.8716|0.7142|0.9857|0.9214|0.9263|0.9998|0.9589|0.8924|0.9218|0.8836|0.9575|0.9998|gnomADg_EAS|||||||||||||,T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||3/38|ENST00000620552.4:c.98-2587C>T|||||||rs2465130||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.8838|0.6846|0.9207|0.999|0.9245|0.9663||||||||||0.8716|0.7142|0.9857|0.9214|0.9263|0.9998|0.9589|0.8924|0.9218|0.8836|0.9575|0.9998|gnomADg_EAS|||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||2/37|ENST00000651234.1:c.197-2587C>T|||||||rs2465130||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.8838|0.6846|0.9207|0.999|0.9245|0.9663||||||||||0.8716|0.7142|0.9857|0.9214|0.9263|0.9998|0.9589|0.8924|0.9218|0.8836|0.9575|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||2/34|ENST00000652369.1:c.197-2587C>T|||||||rs2465130||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.8838|0.6846|0.9207|0.999|0.9245|0.9663||||||||||0.8716|0.7142|0.9857|0.9214|0.9263|0.9998|0.9589|0.8924|0.9218|0.8836|0.9575|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.8:5:0,0:0,3:0,3:0,0,3,2 -chr1 1038288 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C1;DP=5;ECNT=1;GERMQ=55;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=52;POPAF=7.3;TLOD=17.21;SRC=snv;GRP=s001;CSQ=G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||3/35|ENST00000379370.7:c.512-2377A>G|||||||rs2488994||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.8822|0.68|0.9193|0.999|0.9235|0.9663||||||||||0.8667|0.6972|0.9857|0.9209|0.9262|0.9998|0.958|0.8987|0.9216|0.8809|0.9571|0.9998|gnomADg_EAS|||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant&non_coding_transcript_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||1/2|ENST00000469403.1:n.459-2377A>G|||||||rs2488994||1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.8822|0.68|0.9193|0.999|0.9235|0.9663||||||||||0.8667|0.6972|0.9857|0.9209|0.9262|0.9998|0.958|0.8987|0.9216|0.8809|0.9571|0.9998|gnomADg_EAS|||||||||||||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||3/38|ENST00000620552.4:c.98-2377A>G|||||||rs2488994||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.8822|0.68|0.9193|0.999|0.9235|0.9663||||||||||0.8667|0.6972|0.9857|0.9209|0.9262|0.9998|0.958|0.8987|0.9216|0.8809|0.9571|0.9998|gnomADg_EAS|||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||2/37|ENST00000651234.1:c.197-2377A>G|||||||rs2488994||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.8822|0.68|0.9193|0.999|0.9235|0.9663||||||||||0.8667|0.6972|0.9857|0.9209|0.9262|0.9998|0.958|0.8987|0.9216|0.8809|0.9571|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||2/34|ENST00000652369.1:c.197-2377A>G|||||||rs2488994||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.8822|0.68|0.9193|0.999|0.9235|0.9663||||||||||0.8667|0.6972|0.9857|0.9209|0.9262|0.9998|0.958|0.8987|0.9216|0.8809|0.9571|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.833:5:0,0:0,4:0,4:0,0,4,1 -chr1 1038762 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=4%2C5|1%2C1;DP=11;ECNT=6;GERMQ=47;MBQ=33,31;MFRL=0,0;MMQ=60,60;MPOS=137;POPAF=7.3;TLOD=5.43;SRC=snv;GRP=s001;CSQ=C|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||3/35|ENST00000379370.7:c.512-1903T>C|||||||||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||||||||||||||||||||||||||||||||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|intron_variant&non_coding_transcript_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||1/2|ENST00000469403.1:n.459-1903T>C|||||||||1||SNV|HGNC|HGNC:329||||3||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||3/38|ENST00000620552.4:c.98-1903T>C|||||||||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||||||||||||||||||||||||||||||||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||2/37|ENST00000651234.1:c.197-1903T>C|||||||||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||||||||||||||||||||||||||||||||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||2/34|ENST00000652369.1:c.197-1903T>C|||||||||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||||||||||||||||||||||||||||||||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:9,2:0.25:11:1,0:4,1:5,1:4,5,1,1 -chr1 1038800 . G T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C4;DP=9;ECNT=6;GERMQ=63;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=53;POPAF=7.3;TLOD=28.38;SRC=snv;GRP=s001;CSQ=T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||3/35|ENST00000379370.7:c.512-1865G>T|||||||rs3121577||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8818|0.7495|0.9857|0.9253|0.9263|0.9998|0.9591|0.8987|0.9219|0.89|0.9574|0.9998|gnomADg_EAS|||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|intron_variant&non_coding_transcript_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||1/2|ENST00000469403.1:n.459-1865G>T|||||||rs3121577||1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8818|0.7495|0.9857|0.9253|0.9263|0.9998|0.9591|0.8987|0.9219|0.89|0.9574|0.9998|gnomADg_EAS|||||||||||||,T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||3/38|ENST00000620552.4:c.98-1865G>T|||||||rs3121577||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8818|0.7495|0.9857|0.9253|0.9263|0.9998|0.9591|0.8987|0.9219|0.89|0.9574|0.9998|gnomADg_EAS|||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||2/37|ENST00000651234.1:c.197-1865G>T|||||||rs3121577||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8818|0.7495|0.9857|0.9253|0.9263|0.9998|0.9591|0.8987|0.9219|0.89|0.9574|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||2/34|ENST00000652369.1:c.197-1865G>T|||||||rs3121577||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8818|0.7495|0.9857|0.9253|0.9263|0.9998|0.9591|0.8987|0.9219|0.89|0.9574|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.841:8:0,0:0,4:0,4:0,0,4,4 -chr1 1038819 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C4;DP=8;ECNT=6;GERMQ=63;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=72;POPAF=7.3;TLOD=28.42;SRC=snv;GRP=s001;CSQ=T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||3/35|ENST00000379370.7:c.512-1846C>T|||||||rs2465131||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8819|0.7498|0.9857|0.9254|0.9263|0.9998|0.9589|0.8987|0.9219|0.8895|0.9574|0.9998|gnomADg_EAS|||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|intron_variant&non_coding_transcript_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||1/2|ENST00000469403.1:n.459-1846C>T|||||||rs2465131||1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8819|0.7498|0.9857|0.9254|0.9263|0.9998|0.9589|0.8987|0.9219|0.8895|0.9574|0.9998|gnomADg_EAS|||||||||||||,T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||3/38|ENST00000620552.4:c.98-1846C>T|||||||rs2465131||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8819|0.7498|0.9857|0.9254|0.9263|0.9998|0.9589|0.8987|0.9219|0.8895|0.9574|0.9998|gnomADg_EAS|||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||2/37|ENST00000651234.1:c.197-1846C>T|||||||rs2465131||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8819|0.7498|0.9857|0.9254|0.9263|0.9998|0.9589|0.8987|0.9219|0.8895|0.9574|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||2/34|ENST00000652369.1:c.197-1846C>T|||||||rs2465131||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8819|0.7498|0.9857|0.9254|0.9263|0.9998|0.9589|0.8987|0.9219|0.8895|0.9574|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.833:8:0,0:0,4:0,4:0,0,4,4 -chr1 1038845 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C3;DP=6;ECNT=6;GERMQ=58;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=87;POPAF=7.3;TLOD=22.53;SRC=snv;GRP=s001;CSQ=G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||3/35|ENST00000379370.7:c.512-1820A>G|||||||rs2488995||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8822|0.751|0.9857|0.9254|0.9263|0.9998|0.9591|0.8987|0.922|0.8902|0.9573|0.9998|gnomADg_EAS|||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant&non_coding_transcript_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||1/2|ENST00000469403.1:n.459-1820A>G|||||||rs2488995||1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8822|0.751|0.9857|0.9254|0.9263|0.9998|0.9591|0.8987|0.922|0.8902|0.9573|0.9998|gnomADg_EAS|||||||||||||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||3/38|ENST00000620552.4:c.98-1820A>G|||||||rs2488995||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8822|0.751|0.9857|0.9254|0.9263|0.9998|0.9591|0.8987|0.922|0.8902|0.9573|0.9998|gnomADg_EAS|||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||2/37|ENST00000651234.1:c.197-1820A>G|||||||rs2488995||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8822|0.751|0.9857|0.9254|0.9263|0.9998|0.9591|0.8987|0.922|0.8902|0.9573|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||2/34|ENST00000652369.1:c.197-1820A>G|||||||rs2488995||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8822|0.751|0.9857|0.9254|0.9263|0.9998|0.9591|0.8987|0.922|0.8902|0.9573|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.8:6:0,0:0,3:0,3:0,0,3,3 -chr1 1038916 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=6;GERMQ=46;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=76;POPAF=7.3;TLOD=7.12;SRC=snv;GRP=s001;CSQ=G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||3/35|ENST00000379370.7:c.512-1749A>G|||||||rs2488996||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8819|0.75|0.9857|0.9253|0.9262|0.9998|0.9588|0.8987|0.922|0.89|0.9568|0.9998|gnomADg_EAS|||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant&non_coding_transcript_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||1/2|ENST00000469403.1:n.459-1749A>G|||||||rs2488996||1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8819|0.75|0.9857|0.9253|0.9262|0.9998|0.9588|0.8987|0.922|0.89|0.9568|0.9998|gnomADg_EAS|||||||||||||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||3/38|ENST00000620552.4:c.98-1749A>G|||||||rs2488996||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8819|0.75|0.9857|0.9253|0.9262|0.9998|0.9588|0.8987|0.922|0.89|0.9568|0.9998|gnomADg_EAS|||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||2/37|ENST00000651234.1:c.197-1749A>G|||||||rs2488996||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8819|0.75|0.9857|0.9253|0.9262|0.9998|0.9588|0.8987|0.922|0.89|0.9568|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||2/34|ENST00000652369.1:c.197-1749A>G|||||||rs2488996||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8819|0.75|0.9857|0.9253|0.9262|0.9998|0.9588|0.8987|0.922|0.89|0.9568|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1039114 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C3;DP=5;ECNT=2;GERMQ=55;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=69;POPAF=7.3;TLOD=17.78;SRC=snv;GRP=s001;CSQ=T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||3/35|ENST00000379370.7:c.512-1551G>T|||||||rs2465133||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8818|0.7496|0.9857|0.9255|0.9263|0.9998|0.9589|0.8987|0.9219|0.8897|0.9571|0.9998|gnomADg_EAS|||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|intron_variant&non_coding_transcript_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||1/2|ENST00000469403.1:n.459-1551G>T|||||||rs2465133||1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8818|0.7496|0.9857|0.9255|0.9263|0.9998|0.9589|0.8987|0.9219|0.8897|0.9571|0.9998|gnomADg_EAS|||||||||||||,T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||3/38|ENST00000620552.4:c.98-1551G>T|||||||rs2465133||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8818|0.7496|0.9857|0.9255|0.9263|0.9998|0.9589|0.8987|0.9219|0.8897|0.9571|0.9998|gnomADg_EAS|||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||2/37|ENST00000651234.1:c.197-1551G>T|||||||rs2465133||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8818|0.7496|0.9857|0.9255|0.9263|0.9998|0.9589|0.8987|0.9219|0.8897|0.9571|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||2/34|ENST00000652369.1:c.197-1551G>T|||||||rs2465133||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8818|0.7496|0.9857|0.9255|0.9263|0.9998|0.9589|0.8987|0.9219|0.8897|0.9571|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.8:5:0,1:0,2:0,3:0,0,2,3 -chr1 1039190 . T G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=2;GERMQ=44;MBQ=0,29;MFRL=0,0;MMQ=60,60;MPOS=145;POPAF=7.3;TLOD=3.01;SRC=snv;GRP=s001;CSQ=G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||3/35|ENST00000379370.7:c.512-1475T>G|||||||rs2465134||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8825|0.752|0.9857|0.9253|0.9263|0.9998|0.9592|0.8987|0.922|0.8904|0.9571|0.9998|gnomADg_EAS|||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant&non_coding_transcript_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||1/2|ENST00000469403.1:n.459-1475T>G|||||||rs2465134||1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8825|0.752|0.9857|0.9253|0.9263|0.9998|0.9592|0.8987|0.922|0.8904|0.9571|0.9998|gnomADg_EAS|||||||||||||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||3/38|ENST00000620552.4:c.98-1475T>G|||||||rs2465134||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8825|0.752|0.9857|0.9253|0.9263|0.9998|0.9592|0.8987|0.922|0.8904|0.9571|0.9998|gnomADg_EAS|||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||2/37|ENST00000651234.1:c.197-1475T>G|||||||rs2465134||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8825|0.752|0.9857|0.9253|0.9263|0.9998|0.9592|0.8987|0.922|0.8904|0.9571|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||2/34|ENST00000652369.1:c.197-1475T>G|||||||rs2465134||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.8948|0.7247|0.9236|0.999|0.9245|0.9663||||||||||0.8825|0.752|0.9857|0.9253|0.9263|0.9998|0.9592|0.8987|0.922|0.8904|0.9571|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.684:1:0,0:0,0:0,1:0,0,0,1 -chr1 1039514 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=40;POPAF=7.3;TLOD=7.15;SRC=snv;GRP=s001;CSQ=T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||3/35|ENST00000379370.7:c.512-1151C>T|||||||rs3121578||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.8065|0.4334|0.9006|0.9722|0.9185|0.9581||||||||||0.8032|0.4946|0.9857|0.8875|0.9195|0.9682|0.94|0.8671|0.9178|0.8337|0.9468|0.9857|gnomADg_AMI|||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|intron_variant&non_coding_transcript_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||1/2|ENST00000469403.1:n.459-1151C>T|||||||rs3121578||1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.8065|0.4334|0.9006|0.9722|0.9185|0.9581||||||||||0.8032|0.4946|0.9857|0.8875|0.9195|0.9682|0.94|0.8671|0.9178|0.8337|0.9468|0.9857|gnomADg_AMI|||||||||||||,T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||3/38|ENST00000620552.4:c.98-1151C>T|||||||rs3121578||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.8065|0.4334|0.9006|0.9722|0.9185|0.9581||||||||||0.8032|0.4946|0.9857|0.8875|0.9195|0.9682|0.94|0.8671|0.9178|0.8337|0.9468|0.9857|gnomADg_AMI|||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||2/37|ENST00000651234.1:c.197-1151C>T|||||||rs3121578||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.8065|0.4334|0.9006|0.9722|0.9185|0.9581||||||||||0.8032|0.4946|0.9857|0.8875|0.9195|0.9682|0.94|0.8671|0.9178|0.8337|0.9468|0.9857|gnomADg_AMI|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||2/34|ENST00000652369.1:c.197-1151C>T|||||||rs3121578||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.8065|0.4334|0.9006|0.9722|0.9185|0.9581||||||||||0.8032|0.4946|0.9857|0.8875|0.9195|0.9682|0.94|0.8671|0.9178|0.8337|0.9468|0.9857|gnomADg_AMI|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1039753 . T A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=1;GERMQ=49;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=113;POPAF=7.3;TLOD=8.4;SRC=snv;GRP=s001;CSQ=A|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||3/35|ENST00000379370.7:c.512-912T>A|||||||rs3121579||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.8956|0.7277|0.9236|0.999|0.9245|0.9663||||||||||0.8818|0.7499|0.9857|0.9253|0.9263|0.9998|0.9589|0.8987|0.9219|0.8898|0.9577|0.9998|gnomADg_EAS|||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|intron_variant&non_coding_transcript_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||1/2|ENST00000469403.1:n.459-912T>A|||||||rs3121579||1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.8956|0.7277|0.9236|0.999|0.9245|0.9663||||||||||0.8818|0.7499|0.9857|0.9253|0.9263|0.9998|0.9589|0.8987|0.9219|0.8898|0.9577|0.9998|gnomADg_EAS|||||||||||||,A|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||3/38|ENST00000620552.4:c.98-912T>A|||||||rs3121579||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.8956|0.7277|0.9236|0.999|0.9245|0.9663||||||||||0.8818|0.7499|0.9857|0.9253|0.9263|0.9998|0.9589|0.8987|0.9219|0.8898|0.9577|0.9998|gnomADg_EAS|||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||2/37|ENST00000651234.1:c.197-912T>A|||||||rs3121579||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.8956|0.7277|0.9236|0.999|0.9245|0.9663||||||||||0.8818|0.7499|0.9857|0.9253|0.9263|0.9998|0.9589|0.8987|0.9219|0.8898|0.9577|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||2/34|ENST00000652369.1:c.197-912T>A|||||||rs3121579||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.8956|0.7277|0.9236|0.999|0.9245|0.9663||||||||||0.8818|0.7499|0.9857|0.9253|0.9263|0.9998|0.9589|0.8987|0.9219|0.8898|0.9577|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,0:0,1:0,2:0,0,1,2 -chr1 1040322 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=101;POPAF=7.3;TLOD=7.45;SRC=snv;GRP=s001;CSQ=G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||3/35|ENST00000379370.7:c.512-343A>G|||||||rs9331224||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.8966|0.7315|0.9236|0.999|0.9245|0.9663||||||||||0.8826|0.7529|0.9857|0.9257|0.9263|0.9998|0.9591|0.8987|0.9219|0.8902|0.9576|0.9998|gnomADg_EAS|||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant&non_coding_transcript_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||1/2|ENST00000469403.1:n.459-343A>G|||||||rs9331224||1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.8966|0.7315|0.9236|0.999|0.9245|0.9663||||||||||0.8826|0.7529|0.9857|0.9257|0.9263|0.9998|0.9591|0.8987|0.9219|0.8902|0.9576|0.9998|gnomADg_EAS|||||||||||||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||3/38|ENST00000620552.4:c.98-343A>G|||||||rs9331224||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.8966|0.7315|0.9236|0.999|0.9245|0.9663||||||||||0.8826|0.7529|0.9857|0.9257|0.9263|0.9998|0.9591|0.8987|0.9219|0.8902|0.9576|0.9998|gnomADg_EAS|||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||2/37|ENST00000651234.1:c.197-343A>G|||||||rs9331224||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.8966|0.7315|0.9236|0.999|0.9245|0.9663||||||||||0.8826|0.7529|0.9857|0.9257|0.9263|0.9998|0.9591|0.8987|0.9219|0.8902|0.9576|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||2/34|ENST00000652369.1:c.197-343A>G|||||||rs9331224||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.8966|0.7315|0.9236|0.999|0.9245|0.9663||||||||||0.8826|0.7529|0.9857|0.9257|0.9263|0.9998|0.9591|0.8987|0.9219|0.8902|0.9576|0.9998|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1041586 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=12%2C13|1%2C1;DP=27;ECNT=1;GERMQ=83;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=99;POPAF=7.3;TLOD=5.02;SRC=snv;GRP=s001;CSQ=T|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding|6/36||ENST00000379370.7:c.1061C>T|ENSP00000368678.2:p.Ala354Val|1114|1061|354|A/V|gCg/gTg|rs759676959||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1|tolerated_low_confidence(0.09)|||||||||||8.418e-06|7.037e-05|0|0|0|0|9.537e-06|0|0|6.578e-06|0|0|0|0|0|0|0|1.471e-05|0|0|7.037e-05|gnomADe_AFR|uncertain_significance||1||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||||||||||rs759676959|189|1||SNV|HGNC|HGNC:329||||3||||||||1||||||||||||8.418e-06|7.037e-05|0|0|0|0|9.537e-06|0|0|6.578e-06|0|0|0|0|0|0|0|1.471e-05|0|0|7.037e-05|gnomADe_AFR|uncertain_significance||1||||||||||,T|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000479707|retained_intron||||||||||rs759676959|3813|1||SNV|HGNC|HGNC:329||||3||||||||1||||||||||||8.418e-06|7.037e-05|0|0|0|0|9.537e-06|0|0|6.578e-06|0|0|0|0|0|0|0|1.471e-05|0|0|7.037e-05|gnomADe_AFR|uncertain_significance||1||||||||||,T|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding|6/39||ENST00000620552.4:c.647C>T|ENSP00000484607.1:p.Ala216Val|1111|647|216|A/V|gCg/gTg|rs759676959||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1|tolerated_low_confidence(0.1)|benign(0.444)||||||||||8.418e-06|7.037e-05|0|0|0|0|9.537e-06|0|0|6.578e-06|0|0|0|0|0|0|0|1.471e-05|0|0|7.037e-05|gnomADe_AFR|uncertain_significance||1||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding|5/38||ENST00000651234.1:c.746C>T|ENSP00000499046.1:p.Ala249Val|1196|746|249|A/V|gCg/gTg|rs759676959||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1|tolerated_low_confidence(0.09)|benign(0.328)||||||||||8.418e-06|7.037e-05|0|0|0|0|9.537e-06|0|0|6.578e-06|0|0|0|0|0|0|0|1.471e-05|0|0|7.037e-05|gnomADe_AFR|uncertain_significance||1||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding|5/35||ENST00000652369.1:c.746C>T|ENSP00000498543.1:p.Ala249Val|1196|746|249|A/V|gCg/gTg|rs759676959||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1|tolerated_low_confidence(0.09)|benign(0.204)||||||||||8.418e-06|7.037e-05|0|0|0|0|9.537e-06|0|0|6.578e-06|0|0|0|0|0|0|0|1.471e-05|0|0|7.037e-05|gnomADe_AFR|uncertain_significance||1||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:25,2:0.111:27:2,0:12,1:15,1:12,13,1,1 -chr1 1041950 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=36;POPAF=7.3;TLOD=6.85;SRC=snv;GRP=s001;CSQ=C|splice_region_variant&splice_polypyrimidine_tract_variant&intron_variant|LOW|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||6/35|ENST00000379370.7:c.1178-6T>C|||||||rs2799066||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.8852|0.6899|0.9207|0.999|0.9245|0.9663|0.9233|0.7112|0.9515|0.9248|0.9998|0.9543|0.918|0.919|0.953|0.8731|0.7171|0.9857|0.9217|0.9266|0.9998|0.9589|0.8924|0.9218|0.886|0.9573|0.9998|gnomADe_EAS&gnomADg_EAS|benign||1|25741868&18414213|||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||||||||||rs2799066|553|1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.8852|0.6899|0.9207|0.999|0.9245|0.9663|0.9233|0.7112|0.9515|0.9248|0.9998|0.9543|0.918|0.919|0.953|0.8731|0.7171|0.9857|0.9217|0.9266|0.9998|0.9589|0.8924|0.9218|0.886|0.9573|0.9998|gnomADe_EAS&gnomADg_EAS|benign||1|25741868&18414213|||||||||,C|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000479707|retained_intron||||||||||rs2799066|3449|1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.8852|0.6899|0.9207|0.999|0.9245|0.9663|0.9233|0.7112|0.9515|0.9248|0.9998|0.9543|0.918|0.919|0.953|0.8731|0.7171|0.9857|0.9217|0.9266|0.9998|0.9589|0.8924|0.9218|0.886|0.9573|0.9998|gnomADe_EAS&gnomADg_EAS|benign||1|25741868&18414213|||||||||,C|splice_region_variant&splice_polypyrimidine_tract_variant&intron_variant|LOW|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||6/38|ENST00000620552.4:c.764-6T>C|||||||rs2799066||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.8852|0.6899|0.9207|0.999|0.9245|0.9663|0.9233|0.7112|0.9515|0.9248|0.9998|0.9543|0.918|0.919|0.953|0.8731|0.7171|0.9857|0.9217|0.9266|0.9998|0.9589|0.8924|0.9218|0.886|0.9573|0.9998|gnomADe_EAS&gnomADg_EAS|benign||1|25741868&18414213|||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|splice_region_variant&splice_polypyrimidine_tract_variant&intron_variant|LOW|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||5/37|ENST00000651234.1:c.863-6T>C|||||||rs2799066||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.8852|0.6899|0.9207|0.999|0.9245|0.9663|0.9233|0.7112|0.9515|0.9248|0.9998|0.9543|0.918|0.919|0.953|0.8731|0.7171|0.9857|0.9217|0.9266|0.9998|0.9589|0.8924|0.9218|0.886|0.9573|0.9998|gnomADe_EAS&gnomADg_EAS|benign||1|25741868&18414213|||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|splice_region_variant&splice_polypyrimidine_tract_variant&intron_variant|LOW|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||5/34|ENST00000652369.1:c.863-6T>C|||||||rs2799066||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.8852|0.6899|0.9207|0.999|0.9245|0.9663|0.9233|0.7112|0.9515|0.9248|0.9998|0.9543|0.918|0.919|0.953|0.8731|0.7171|0.9857|0.9217|0.9266|0.9998|0.9589|0.8924|0.9218|0.886|0.9573|0.9998|gnomADe_EAS&gnomADg_EAS|benign||1|25741868&18414213|||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164813|enhancer||||||||||rs2799066||||SNV||||||||||||||||||||0.8852|0.6899|0.9207|0.999|0.9245|0.9663|0.9233|0.7112|0.9515|0.9248|0.9998|0.9543|0.918|0.919|0.953|0.8731|0.7171|0.9857|0.9217|0.9266|0.9998|0.9589|0.8924|0.9218|0.886|0.9573|0.9998|gnomADe_EAS&gnomADg_EAS|benign||1|25741868&18414213||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1042190 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=85;POPAF=7.3;TLOD=7.25;SRC=snv;GRP=s001;CSQ=A|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||7/35|ENST00000379370.7:c.1384+28G>A|||||||rs2710876||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.7941|0.3896|0.8963|0.9722|0.9175|0.9581|0.8973|0.4355|0.9316|0.9182|0.9726|0.9373|0.9149|0.8986|0.9451|0.788|0.4415|0.9857|0.8833|0.9199|0.968|0.9398|0.879|0.9175|0.8246|0.9466|0.9857|gnomADg_AMI|benign||1|25741868|||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||||||||||rs2710876|793|1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.7941|0.3896|0.8963|0.9722|0.9175|0.9581|0.8973|0.4355|0.9316|0.9182|0.9726|0.9373|0.9149|0.8986|0.9451|0.788|0.4415|0.9857|0.8833|0.9199|0.968|0.9398|0.879|0.9175|0.8246|0.9466|0.9857|gnomADg_AMI|benign||1|25741868|||||||||,A|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000479707|retained_intron||||||||||rs2710876|3209|1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.7941|0.3896|0.8963|0.9722|0.9175|0.9581|0.8973|0.4355|0.9316|0.9182|0.9726|0.9373|0.9149|0.8986|0.9451|0.788|0.4415|0.9857|0.8833|0.9199|0.968|0.9398|0.879|0.9175|0.8246|0.9466|0.9857|gnomADg_AMI|benign||1|25741868|||||||||,A|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||7/38|ENST00000620552.4:c.970+28G>A|||||||rs2710876||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.7941|0.3896|0.8963|0.9722|0.9175|0.9581|0.8973|0.4355|0.9316|0.9182|0.9726|0.9373|0.9149|0.8986|0.9451|0.788|0.4415|0.9857|0.8833|0.9199|0.968|0.9398|0.879|0.9175|0.8246|0.9466|0.9857|gnomADg_AMI|benign||1|25741868|||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||6/37|ENST00000651234.1:c.1069+28G>A|||||||rs2710876||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.7941|0.3896|0.8963|0.9722|0.9175|0.9581|0.8973|0.4355|0.9316|0.9182|0.9726|0.9373|0.9149|0.8986|0.9451|0.788|0.4415|0.9857|0.8833|0.9199|0.968|0.9398|0.879|0.9175|0.8246|0.9466|0.9857|gnomADg_AMI|benign||1|25741868|||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||6/34|ENST00000652369.1:c.1069+28G>A|||||||rs2710876||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.7941|0.3896|0.8963|0.9722|0.9175|0.9581|0.8973|0.4355|0.9316|0.9182|0.9726|0.9373|0.9149|0.8986|0.9451|0.788|0.4415|0.9857|0.8833|0.9199|0.968|0.9398|0.879|0.9175|0.8246|0.9466|0.9857|gnomADg_AMI|benign||1|25741868|||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164813|enhancer||||||||||rs2710876||||SNV||||||||||||||||||||0.7941|0.3896|0.8963|0.9722|0.9175|0.9581|0.8973|0.4355|0.9316|0.9182|0.9726|0.9373|0.9149|0.8986|0.9451|0.788|0.4415|0.9857|0.8833|0.9199|0.968|0.9398|0.879|0.9175|0.8246|0.9466|0.9857|gnomADg_AMI|benign||1|25741868||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1042400 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,29;MFRL=0,0;MMQ=60,60;MPOS=20;POPAF=7.3;TLOD=3.08;SRC=snv;GRP=s001;CSQ=T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||7/35|ENST00000379370.7:c.1384+238C>T|||||||rs2710875||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.8065|0.4334|0.9006|0.9722|0.9185|0.9581||||||||||0.8031|0.4943|0.9857|0.8876|0.9199|0.9677|0.9402|0.8797|0.9179|0.8338|0.9466|0.9857|gnomADg_AMI|benign||1||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000466223|retained_intron||||||||||rs2710875|4801|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.8065|0.4334|0.9006|0.9722|0.9185|0.9581||||||||||0.8031|0.4943|0.9857|0.8876|0.9199|0.9677|0.9402|0.8797|0.9179|0.8338|0.9466|0.9857|gnomADg_AMI|benign||1||||||||||,T|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||||||||||rs2710875|1003|1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.8065|0.4334|0.9006|0.9722|0.9185|0.9581||||||||||0.8031|0.4943|0.9857|0.8876|0.9199|0.9677|0.9402|0.8797|0.9179|0.8338|0.9466|0.9857|gnomADg_AMI|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000479707|retained_intron||||||||||rs2710875|2999|1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.8065|0.4334|0.9006|0.9722|0.9185|0.9581||||||||||0.8031|0.4943|0.9857|0.8876|0.9199|0.9677|0.9402|0.8797|0.9179|0.8338|0.9466|0.9857|gnomADg_AMI|benign||1||||||||||,T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||7/38|ENST00000620552.4:c.970+238C>T|||||||rs2710875||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.8065|0.4334|0.9006|0.9722|0.9185|0.9581||||||||||0.8031|0.4943|0.9857|0.8876|0.9199|0.9677|0.9402|0.8797|0.9179|0.8338|0.9466|0.9857|gnomADg_AMI|benign||1||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||6/37|ENST00000651234.1:c.1069+238C>T|||||||rs2710875||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.8065|0.4334|0.9006|0.9722|0.9185|0.9581||||||||||0.8031|0.4943|0.9857|0.8876|0.9199|0.9677|0.9402|0.8797|0.9179|0.8338|0.9466|0.9857|gnomADg_AMI|benign||1||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||6/34|ENST00000652369.1:c.1069+238C>T|||||||rs2710875||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.8065|0.4334|0.9006|0.9722|0.9185|0.9581||||||||||0.8031|0.4943|0.9857|0.8876|0.9199|0.9677|0.9402|0.8797|0.9179|0.8338|0.9466|0.9857|gnomADg_AMI|benign||1||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164813|enhancer||||||||||rs2710875||||SNV||||||||||||||||||||0.8065|0.4334|0.9006|0.9722|0.9185|0.9581||||||||||0.8031|0.4943|0.9857|0.8876|0.9199|0.9677|0.9402|0.8797|0.9179|0.8338|0.9466|0.9857|gnomADg_AMI|benign||1|||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 1043295 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=7%2C7|1%2C1;DP=16;ECNT=1;GERMQ=57;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=70;POPAF=7.3;TLOD=5.42;SRC=snv;GRP=s001;CSQ=A|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding|8/36||ENST00000379370.7:c.1441G>A|ENSP00000368678.2:p.Val481Met|1494|1441|481|V/M|Gtg/Atg|rs1557704112||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1|deleterious_low_confidence(0)|||||||||||4.082e-06|0|0|0|0|0|9.051e-06|0|0||||||||||||9.051e-06|gnomADe_NFE|||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000466223|retained_intron||||||||||rs1557704112|3906|1||SNV|HGNC|HGNC:329||||2||||||||1||||||||||||4.082e-06|0|0|0|0|0|9.051e-06|0|0||||||||||||9.051e-06|gnomADe_NFE|||||||||||||,A|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||||||||||rs1557704112|1898|1||SNV|HGNC|HGNC:329||||3||||||||1||||||||||||4.082e-06|0|0|0|0|0|9.051e-06|0|0||||||||||||9.051e-06|gnomADe_NFE|||||||||||||,A|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000478677|retained_intron||||||||||rs1557704112|4180|1||SNV|HGNC|HGNC:329||||2||||||||1||||||||||||4.082e-06|0|0|0|0|0|9.051e-06|0|0||||||||||||9.051e-06|gnomADe_NFE|||||||||||||,A|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000479707|retained_intron||||||||||rs1557704112|2104|1||SNV|HGNC|HGNC:329||||3||||||||1||||||||||||4.082e-06|0|0|0|0|0|9.051e-06|0|0||||||||||||9.051e-06|gnomADe_NFE|||||||||||||,A|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding|8/39||ENST00000620552.4:c.1027G>A|ENSP00000484607.1:p.Val343Met|1491|1027|343|V/M|Gtg/Atg|rs1557704112||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1|deleterious_low_confidence(0)|possibly_damaging(0.762)||||||||||4.082e-06|0|0|0|0|0|9.051e-06|0|0||||||||||||9.051e-06|gnomADe_NFE|||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding|7/38||ENST00000651234.1:c.1126G>A|ENSP00000499046.1:p.Val376Met|1576|1126|376|V/M|Gtg/Atg|rs1557704112||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1|deleterious_low_confidence(0)|probably_damaging(0.965)||||||||||4.082e-06|0|0|0|0|0|9.051e-06|0|0||||||||||||9.051e-06|gnomADe_NFE|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding|7/35||ENST00000652369.1:c.1126G>A|ENSP00000498543.1:p.Val376Met|1576|1126|376|V/M|Gtg/Atg|rs1557704112||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1|deleterious_low_confidence(0)|probably_damaging(0.944)||||||||||4.082e-06|0|0|0|0|0|9.051e-06|0|0||||||||||||9.051e-06|gnomADe_NFE|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:14,2:0.168:16:2,0:6,1:9,1:7,7,1,1 -chr1 1043611 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=11%2C9|1%2C1;DP=22;ECNT=1;GERMQ=71;MBQ=35,31;MFRL=0,0;MMQ=60,60;MPOS=35;POPAF=7.3;TLOD=4.96;SRC=snv;GRP=s001;CSQ=T|synonymous_variant|LOW|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding|9/36||ENST00000379370.7:c.1677C>T|ENSP00000368678.2:p.Cys559%3D|1730|1677|559|C|tgC/tgT|rs572191083&COSV65070518||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.0002|0.0008|0|0|0|0|8.395e-06|6.348e-05|0|0|0|0|9.277e-06|0|0|1.314e-05|2.412e-05|0|0|0|0|0|0|1.47e-05|0|0|0.0008|AFR||0&1|0&1||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000466223|retained_intron||||||||||rs572191083&COSV65070518|3590|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.0002|0.0008|0|0|0|0|8.395e-06|6.348e-05|0|0|0|0|9.277e-06|0|0|1.314e-05|2.412e-05|0|0|0|0|0|0|1.47e-05|0|0|0.0008|AFR||0&1|0&1||||||||||,T|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||||||||||rs572191083&COSV65070518|2214|1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.0002|0.0008|0|0|0|0|8.395e-06|6.348e-05|0|0|0|0|9.277e-06|0|0|1.314e-05|2.412e-05|0|0|0|0|0|0|1.47e-05|0|0|0.0008|AFR||0&1|0&1||||||||||,T|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000478677|retained_intron||||||||||rs572191083&COSV65070518|3864|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.0002|0.0008|0|0|0|0|8.395e-06|6.348e-05|0|0|0|0|9.277e-06|0|0|1.314e-05|2.412e-05|0|0|0|0|0|0|1.47e-05|0|0|0.0008|AFR||0&1|0&1||||||||||,T|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000479707|retained_intron||||||||||rs572191083&COSV65070518|1788|1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.0002|0.0008|0|0|0|0|8.395e-06|6.348e-05|0|0|0|0|9.277e-06|0|0|1.314e-05|2.412e-05|0|0|0|0|0|0|1.47e-05|0|0|0.0008|AFR||0&1|0&1||||||||||,T|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000492947|retained_intron||||||||||rs572191083&COSV65070518|4918|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.0002|0.0008|0|0|0|0|8.395e-06|6.348e-05|0|0|0|0|9.277e-06|0|0|1.314e-05|2.412e-05|0|0|0|0|0|0|1.47e-05|0|0|0.0008|AFR||0&1|0&1||||||||||,T|synonymous_variant|LOW|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding|9/39||ENST00000620552.4:c.1263C>T|ENSP00000484607.1:p.Cys421%3D|1727|1263|421|C|tgC/tgT|rs572191083&COSV65070518||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.0002|0.0008|0|0|0|0|8.395e-06|6.348e-05|0|0|0|0|9.277e-06|0|0|1.314e-05|2.412e-05|0|0|0|0|0|0|1.47e-05|0|0|0.0008|AFR||0&1|0&1||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|synonymous_variant|LOW|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding|8/38||ENST00000651234.1:c.1362C>T|ENSP00000499046.1:p.Cys454%3D|1812|1362|454|C|tgC/tgT|rs572191083&COSV65070518||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.0002|0.0008|0|0|0|0|8.395e-06|6.348e-05|0|0|0|0|9.277e-06|0|0|1.314e-05|2.412e-05|0|0|0|0|0|0|1.47e-05|0|0|0.0008|AFR||0&1|0&1||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|synonymous_variant|LOW|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding|8/35||ENST00000652369.1:c.1362C>T|ENSP00000498543.1:p.Cys454%3D|1812|1362|454|C|tgC/tgT|rs572191083&COSV65070518||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.0002|0.0008|0|0|0|0|8.395e-06|6.348e-05|0|0|0|0|9.277e-06|0|0|1.314e-05|2.412e-05|0|0|0|0|0|0|1.47e-05|0|0|0.0008|AFR||0&1|0&1||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:20,2:0.143:22:0,0:11,1:11,1:11,9,1,1 -chr1 1044368 . A T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,23;MFRL=0,0;MMQ=60,60;MPOS=12;POPAF=7.3;TLOD=4.03;SRC=snv;GRP=s001;CSQ=T|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding|12/36||ENST00000379370.7:c.2183A>T|ENSP00000368678.2:p.Glu728Val|2236|2183|728|E/V|gAg/gTg|rs113288277||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1|deleterious_low_confidence(0)|||||0.0184|0.0008|0.0159|0.0079|0.0467|0.0256|0.02976|0.006361|0.01538|0.04379|0.004194|0.03733|0.0409|0.03386|0.02206|0.02948|0.006732|0.07363|0.02142|0.03487|0.005029|0.03885|0.0538|0.04476|0.02553|0.02808|0.07363|gnomADg_AMI|benign||1|25741868&18414213&31882771|||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000466223|retained_intron||||||||||rs113288277|2833|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.0184|0.0008|0.0159|0.0079|0.0467|0.0256|0.02976|0.006361|0.01538|0.04379|0.004194|0.03733|0.0409|0.03386|0.02206|0.02948|0.006732|0.07363|0.02142|0.03487|0.005029|0.03885|0.0538|0.04476|0.02553|0.02808|0.07363|gnomADg_AMI|benign||1|25741868&18414213&31882771|||||||||,T|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||||||||||rs113288277|2971|1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.0184|0.0008|0.0159|0.0079|0.0467|0.0256|0.02976|0.006361|0.01538|0.04379|0.004194|0.03733|0.0409|0.03386|0.02206|0.02948|0.006732|0.07363|0.02142|0.03487|0.005029|0.03885|0.0538|0.04476|0.02553|0.02808|0.07363|gnomADg_AMI|benign||1|25741868&18414213&31882771|||||||||,T|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000478677|retained_intron||||||||||rs113288277|3107|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.0184|0.0008|0.0159|0.0079|0.0467|0.0256|0.02976|0.006361|0.01538|0.04379|0.004194|0.03733|0.0409|0.03386|0.02206|0.02948|0.006732|0.07363|0.02142|0.03487|0.005029|0.03885|0.0538|0.04476|0.02553|0.02808|0.07363|gnomADg_AMI|benign||1|25741868&18414213&31882771|||||||||,T|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000479707|retained_intron||||||||||rs113288277|1031|1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.0184|0.0008|0.0159|0.0079|0.0467|0.0256|0.02976|0.006361|0.01538|0.04379|0.004194|0.03733|0.0409|0.03386|0.02206|0.02948|0.006732|0.07363|0.02142|0.03487|0.005029|0.03885|0.0538|0.04476|0.02553|0.02808|0.07363|gnomADg_AMI|benign||1|25741868&18414213&31882771|||||||||,T|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000492947|retained_intron||||||||||rs113288277|4161|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.0184|0.0008|0.0159|0.0079|0.0467|0.0256|0.02976|0.006361|0.01538|0.04379|0.004194|0.03733|0.0409|0.03386|0.02206|0.02948|0.006732|0.07363|0.02142|0.03487|0.005029|0.03885|0.0538|0.04476|0.02553|0.02808|0.07363|gnomADg_AMI|benign||1|25741868&18414213&31882771|||||||||,T|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding|12/39||ENST00000620552.4:c.1769A>T|ENSP00000484607.1:p.Glu590Val|2233|1769|590|E/V|gAg/gTg|rs113288277||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1|deleterious_low_confidence(0)|possibly_damaging(0.83)||||0.0184|0.0008|0.0159|0.0079|0.0467|0.0256|0.02976|0.006361|0.01538|0.04379|0.004194|0.03733|0.0409|0.03386|0.02206|0.02948|0.006732|0.07363|0.02142|0.03487|0.005029|0.03885|0.0538|0.04476|0.02553|0.02808|0.07363|gnomADg_AMI|benign||1|25741868&18414213&31882771|||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding|11/38||ENST00000651234.1:c.1868A>T|ENSP00000499046.1:p.Glu623Val|2318|1868|623|E/V|gAg/gTg|rs113288277||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1|deleterious_low_confidence(0)|benign(0.301)||||0.0184|0.0008|0.0159|0.0079|0.0467|0.0256|0.02976|0.006361|0.01538|0.04379|0.004194|0.03733|0.0409|0.03386|0.02206|0.02948|0.006732|0.07363|0.02142|0.03487|0.005029|0.03885|0.0538|0.04476|0.02553|0.02808|0.07363|gnomADg_AMI|benign||1|25741868&18414213&31882771|||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding|11/35||ENST00000652369.1:c.1868A>T|ENSP00000498543.1:p.Glu623Val|2318|1868|623|E/V|gAg/gTg|rs113288277||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1|deleterious_low_confidence(0)|possibly_damaging(0.762)||||0.0184|0.0008|0.0159|0.0079|0.0467|0.0256|0.02976|0.006361|0.01538|0.04379|0.004194|0.03733|0.0409|0.03386|0.02206|0.02948|0.006732|0.07363|0.02142|0.03487|0.005029|0.03885|0.0538|0.04476|0.02553|0.02808|0.07363|gnomADg_AMI|benign||1|25741868&18414213&31882771|||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,0:0,1:0,0,1,1 -chr1 1045080 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=43;POPAF=7.3;TLOD=3.48;SRC=snv;GRP=s001;CSQ=A|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||12/35|ENST00000379370.7:c.2255-81G>A|||||||rs3128097||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.9119|0.7738|0.9323|0.999|0.9334|0.9724||||||||||0.8986|0.7947|0.9923|0.933|0.9243|0.9998|0.9598|0.9051|0.9293|0.9094|0.9625|0.9998|gnomADg_EAS|benign||1||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000466223|retained_intron||||||||||rs3128097|2121|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.9119|0.7738|0.9323|0.999|0.9334|0.9724||||||||||0.8986|0.7947|0.9923|0.933|0.9243|0.9998|0.9598|0.9051|0.9293|0.9094|0.9625|0.9998|gnomADg_EAS|benign||1||||||||||,A|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||||||||||rs3128097|3683|1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.9119|0.7738|0.9323|0.999|0.9334|0.9724||||||||||0.8986|0.7947|0.9923|0.933|0.9243|0.9998|0.9598|0.9051|0.9293|0.9094|0.9625|0.9998|gnomADg_EAS|benign||1||||||||||,A|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000478677|retained_intron||||||||||rs3128097|2395|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.9119|0.7738|0.9323|0.999|0.9334|0.9724||||||||||0.8986|0.7947|0.9923|0.933|0.9243|0.9998|0.9598|0.9051|0.9293|0.9094|0.9625|0.9998|gnomADg_EAS|benign||1||||||||||,A|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000479707|retained_intron||||||||||rs3128097|319|1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.9119|0.7738|0.9323|0.999|0.9334|0.9724||||||||||0.8986|0.7947|0.9923|0.933|0.9243|0.9998|0.9598|0.9051|0.9293|0.9094|0.9625|0.9998|gnomADg_EAS|benign||1||||||||||,A|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000492947|retained_intron||||||||||rs3128097|3449|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.9119|0.7738|0.9323|0.999|0.9334|0.9724||||||||||0.8986|0.7947|0.9923|0.933|0.9243|0.9998|0.9598|0.9051|0.9293|0.9094|0.9625|0.9998|gnomADg_EAS|benign||1||||||||||,A|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||12/38|ENST00000620552.4:c.1841-81G>A|||||||rs3128097||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.9119|0.7738|0.9323|0.999|0.9334|0.9724||||||||||0.8986|0.7947|0.9923|0.933|0.9243|0.9998|0.9598|0.9051|0.9293|0.9094|0.9625|0.9998|gnomADg_EAS|benign||1||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||11/37|ENST00000651234.1:c.1940-81G>A|||||||rs3128097||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.9119|0.7738|0.9323|0.999|0.9334|0.9724||||||||||0.8986|0.7947|0.9923|0.933|0.9243|0.9998|0.9598|0.9051|0.9293|0.9094|0.9625|0.9998|gnomADg_EAS|benign||1||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||11/34|ENST00000652369.1:c.1940-81G>A|||||||rs3128097||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.9119|0.7738|0.9323|0.999|0.9334|0.9724||||||||||0.8986|0.7947|0.9923|0.933|0.9243|0.9998|0.9598|0.9051|0.9293|0.9094|0.9625|0.9998|gnomADg_EAS|benign||1||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 1045707 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=17;POPAF=7.3;TLOD=7.35;SRC=snv;GRP=s001;CSQ=G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||14/35|ENST00000379370.7:c.2537-26A>G|||||||rs3128098||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.8694|0.6225|0.9179|0.999|0.9304|0.9724|0.9206|0.6365|0.9462|0.9185|0.9999|0.9559|0.9247|0.9161|0.9552|0.8538|0.644|0.9923|0.9103|0.9165|0.9998|0.9596|0.8956|0.9278|0.8684|0.9617|0.9999|gnomADe_EAS|benign||1|25741868|||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000466223|retained_intron||||||||||rs3128098|1494|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.8694|0.6225|0.9179|0.999|0.9304|0.9724|0.9206|0.6365|0.9462|0.9185|0.9999|0.9559|0.9247|0.9161|0.9552|0.8538|0.644|0.9923|0.9103|0.9165|0.9998|0.9596|0.8956|0.9278|0.8684|0.9617|0.9999|gnomADe_EAS|benign||1|25741868|||||||||,G|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000469403|retained_intron||||||||||rs3128098|4310|1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.8694|0.6225|0.9179|0.999|0.9304|0.9724|0.9206|0.6365|0.9462|0.9185|0.9999|0.9559|0.9247|0.9161|0.9552|0.8538|0.644|0.9923|0.9103|0.9165|0.9998|0.9596|0.8956|0.9278|0.8684|0.9617|0.9999|gnomADe_EAS|benign||1|25741868|||||||||,G|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000478677|retained_intron||||||||||rs3128098|1768|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.8694|0.6225|0.9179|0.999|0.9304|0.9724|0.9206|0.6365|0.9462|0.9185|0.9999|0.9559|0.9247|0.9161|0.9552|0.8538|0.644|0.9923|0.9103|0.9165|0.9998|0.9596|0.8956|0.9278|0.8684|0.9617|0.9999|gnomADe_EAS|benign||1|25741868|||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000479707|retained_intron||1/3|ENST00000479707.1:n.126-26A>G|||||||rs3128098||1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.8694|0.6225|0.9179|0.999|0.9304|0.9724|0.9206|0.6365|0.9462|0.9185|0.9999|0.9559|0.9247|0.9161|0.9552|0.8538|0.644|0.9923|0.9103|0.9165|0.9998|0.9596|0.8956|0.9278|0.8684|0.9617|0.9999|gnomADe_EAS|benign||1|25741868|||||||||,G|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000492947|retained_intron||||||||||rs3128098|2822|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.8694|0.6225|0.9179|0.999|0.9304|0.9724|0.9206|0.6365|0.9462|0.9185|0.9999|0.9559|0.9247|0.9161|0.9552|0.8538|0.644|0.9923|0.9103|0.9165|0.9998|0.9596|0.8956|0.9278|0.8684|0.9617|0.9999|gnomADe_EAS|benign||1|25741868|||||||||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||14/38|ENST00000620552.4:c.2123-26A>G|||||||rs3128098||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.8694|0.6225|0.9179|0.999|0.9304|0.9724|0.9206|0.6365|0.9462|0.9185|0.9999|0.9559|0.9247|0.9161|0.9552|0.8538|0.644|0.9923|0.9103|0.9165|0.9998|0.9596|0.8956|0.9278|0.8684|0.9617|0.9999|gnomADe_EAS|benign||1|25741868|||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||13/37|ENST00000651234.1:c.2222-26A>G|||||||rs3128098||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.8694|0.6225|0.9179|0.999|0.9304|0.9724|0.9206|0.6365|0.9462|0.9185|0.9999|0.9559|0.9247|0.9161|0.9552|0.8538|0.644|0.9923|0.9103|0.9165|0.9998|0.9596|0.8956|0.9278|0.8684|0.9617|0.9999|gnomADe_EAS|benign||1|25741868|||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||13/34|ENST00000652369.1:c.2222-26A>G|||||||rs3128098||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.8694|0.6225|0.9179|0.999|0.9304|0.9724|0.9206|0.6365|0.9462|0.9185|0.9999|0.9559|0.9247|0.9161|0.9552|0.8538|0.644|0.9923|0.9103|0.9165|0.9998|0.9596|0.8956|0.9278|0.8684|0.9617|0.9999|gnomADe_EAS|benign||1|25741868|||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1046488 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=10%2C14|1%2C1;DP=26;ECNT=2;GERMQ=81;MBQ=32,31;MFRL=0,0;MMQ=60,60;MPOS=64;POPAF=7.3;TLOD=4.77;SRC=snv;GRP=s001;CSQ=T|synonymous_variant|LOW|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding|18/36||ENST00000379370.7:c.3003C>T|ENSP00000368678.2:p.Pro1001%3D|3056|3003|1001|P|ccC/ccT|rs375208869&COSV101038541&COSV65067996||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.0006|0.0008|0|0|0|0.002|0.0003764|0.0002036|8.778e-05|0|0|0|0.0002683|0.0001704|0.00181|0.0001972|9.653e-05|0|6.55e-05|0|0|0|0|0.0002647|0|0.00145|0.002|SAS|likely_benign|0&1&1|1&1&1|25741868|||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000466223|retained_intron||||||||||rs375208869&COSV101038541&COSV65067996|713|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.0006|0.0008|0|0|0|0.002|0.0003764|0.0002036|8.778e-05|0|0|0|0.0002683|0.0001704|0.00181|0.0001972|9.653e-05|0|6.55e-05|0|0|0|0|0.0002647|0|0.00145|0.002|SAS|likely_benign|0&1&1|1&1&1|25741868|||||||||,T|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000478677|retained_intron||||||||||rs375208869&COSV101038541&COSV65067996|987|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.0006|0.0008|0|0|0|0.002|0.0003764|0.0002036|8.778e-05|0|0|0|0.0002683|0.0001704|0.00181|0.0001972|9.653e-05|0|6.55e-05|0|0|0|0|0.0002647|0|0.00145|0.002|SAS|likely_benign|0&1&1|1&1&1|25741868|||||||||,T|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000479707|retained_intron||||||||||rs375208869&COSV101038541&COSV65067996|139|1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.0006|0.0008|0|0|0|0.002|0.0003764|0.0002036|8.778e-05|0|0|0|0.0002683|0.0001704|0.00181|0.0001972|9.653e-05|0|6.55e-05|0|0|0|0|0.0002647|0|0.00145|0.002|SAS|likely_benign|0&1&1|1&1&1|25741868|||||||||,T|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000492947|retained_intron||||||||||rs375208869&COSV101038541&COSV65067996|2041|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.0006|0.0008|0|0|0|0.002|0.0003764|0.0002036|8.778e-05|0|0|0|0.0002683|0.0001704|0.00181|0.0001972|9.653e-05|0|6.55e-05|0|0|0|0|0.0002647|0|0.00145|0.002|SAS|likely_benign|0&1&1|1&1&1|25741868|||||||||,T|synonymous_variant|LOW|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding|18/39||ENST00000620552.4:c.2589C>T|ENSP00000484607.1:p.Pro863%3D|3053|2589|863|P|ccC/ccT|rs375208869&COSV101038541&COSV65067996||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.0006|0.0008|0|0|0|0.002|0.0003764|0.0002036|8.778e-05|0|0|0|0.0002683|0.0001704|0.00181|0.0001972|9.653e-05|0|6.55e-05|0|0|0|0|0.0002647|0|0.00145|0.002|SAS|likely_benign|0&1&1|1&1&1|25741868|||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|synonymous_variant|LOW|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding|17/38||ENST00000651234.1:c.2688C>T|ENSP00000499046.1:p.Pro896%3D|3138|2688|896|P|ccC/ccT|rs375208869&COSV101038541&COSV65067996||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.0006|0.0008|0|0|0|0.002|0.0003764|0.0002036|8.778e-05|0|0|0|0.0002683|0.0001704|0.00181|0.0001972|9.653e-05|0|6.55e-05|0|0|0|0|0.0002647|0|0.00145|0.002|SAS|likely_benign|0&1&1|1&1&1|25741868|||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|synonymous_variant|LOW|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding|17/35||ENST00000652369.1:c.2688C>T|ENSP00000498543.1:p.Pro896%3D|3138|2688|896|P|ccC/ccT|rs375208869&COSV101038541&COSV65067996||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.0006|0.0008|0|0|0|0.002|0.0003764|0.0002036|8.778e-05|0|0|0|0.0002683|0.0001704|0.00181|0.0001972|9.653e-05|0|6.55e-05|0|0|0|0|0.0002647|0|0.00145|0.002|SAS|likely_benign|0&1&1|1&1&1|25741868|||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:24,2:0.118:26:3,0:10,1:14,1:10,14,1,1 -chr1 1046551 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C4;DP=12;ECNT=2;GERMQ=60;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=127;POPAF=7.3;TLOD=24.93;SRC=snv;GRP=s001;CSQ=G|synonymous_variant|LOW|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding|18/36||ENST00000379370.7:c.3066A>G|ENSP00000368678.2:p.Ser1022%3D|3119|3066|1022|S|tcA/tcG|rs2465128&COSV65068047||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.7977|0.4554|0.8905|0.9633|0.9125|0.9059|0.8865|0.4974|0.9296|0.8885|0.9677|0.9316|0.9059|0.8841|0.8885|0.8016|0.5141|0.9857|0.8811|0.8928|0.9618|0.9361|0.8513|0.9099|0.8241|0.8918|0.9857|gnomADg_AMI|benign|0&1|1&1|25741868&18414213|||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000466223|retained_intron||||||||||rs2465128&COSV65068047|650|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.7977|0.4554|0.8905|0.9633|0.9125|0.9059|0.8865|0.4974|0.9296|0.8885|0.9677|0.9316|0.9059|0.8841|0.8885|0.8016|0.5141|0.9857|0.8811|0.8928|0.9618|0.9361|0.8513|0.9099|0.8241|0.8918|0.9857|gnomADg_AMI|benign|0&1|1&1|25741868&18414213|||||||||,G|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000478677|retained_intron||||||||||rs2465128&COSV65068047|924|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.7977|0.4554|0.8905|0.9633|0.9125|0.9059|0.8865|0.4974|0.9296|0.8885|0.9677|0.9316|0.9059|0.8841|0.8885|0.8016|0.5141|0.9857|0.8811|0.8928|0.9618|0.9361|0.8513|0.9099|0.8241|0.8918|0.9857|gnomADg_AMI|benign|0&1|1&1|25741868&18414213|||||||||,G|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000479707|retained_intron||||||||||rs2465128&COSV65068047|202|1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.7977|0.4554|0.8905|0.9633|0.9125|0.9059|0.8865|0.4974|0.9296|0.8885|0.9677|0.9316|0.9059|0.8841|0.8885|0.8016|0.5141|0.9857|0.8811|0.8928|0.9618|0.9361|0.8513|0.9099|0.8241|0.8918|0.9857|gnomADg_AMI|benign|0&1|1&1|25741868&18414213|||||||||,G|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000492947|retained_intron||||||||||rs2465128&COSV65068047|1978|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.7977|0.4554|0.8905|0.9633|0.9125|0.9059|0.8865|0.4974|0.9296|0.8885|0.9677|0.9316|0.9059|0.8841|0.8885|0.8016|0.5141|0.9857|0.8811|0.8928|0.9618|0.9361|0.8513|0.9099|0.8241|0.8918|0.9857|gnomADg_AMI|benign|0&1|1&1|25741868&18414213|||||||||,G|synonymous_variant|LOW|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding|18/39||ENST00000620552.4:c.2652A>G|ENSP00000484607.1:p.Ser884%3D|3116|2652|884|S|tcA/tcG|rs2465128&COSV65068047||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.7977|0.4554|0.8905|0.9633|0.9125|0.9059|0.8865|0.4974|0.9296|0.8885|0.9677|0.9316|0.9059|0.8841|0.8885|0.8016|0.5141|0.9857|0.8811|0.8928|0.9618|0.9361|0.8513|0.9099|0.8241|0.8918|0.9857|gnomADg_AMI|benign|0&1|1&1|25741868&18414213|||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|synonymous_variant|LOW|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding|17/38||ENST00000651234.1:c.2751A>G|ENSP00000499046.1:p.Ser917%3D|3201|2751|917|S|tcA/tcG|rs2465128&COSV65068047||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.7977|0.4554|0.8905|0.9633|0.9125|0.9059|0.8865|0.4974|0.9296|0.8885|0.9677|0.9316|0.9059|0.8841|0.8885|0.8016|0.5141|0.9857|0.8811|0.8928|0.9618|0.9361|0.8513|0.9099|0.8241|0.8918|0.9857|gnomADg_AMI|benign|0&1|1&1|25741868&18414213|||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|synonymous_variant|LOW|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding|17/35||ENST00000652369.1:c.2751A>G|ENSP00000498543.1:p.Ser917%3D|3201|2751|917|S|tcA/tcG|rs2465128&COSV65068047||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.7977|0.4554|0.8905|0.9633|0.9125|0.9059|0.8865|0.4974|0.9296|0.8885|0.9677|0.9316|0.9059|0.8841|0.8885|0.8016|0.5141|0.9857|0.8811|0.8928|0.9618|0.9361|0.8513|0.9099|0.8241|0.8918|0.9857|gnomADg_AMI|benign|0&1|1&1|25741868&18414213|||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,7:0.876:7:0,0:0,3:0,5:0,0,3,4 -chr1 1047064 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|5%2C6;DP=11;ECNT=3;GERMQ=72;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=86;POPAF=7.3;TLOD=40.34;SRC=snv;GRP=s001;CSQ=G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||19/35|ENST00000379370.7:c.3388+107A>G|||||||rs3128099||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.8219|0.4894|0.9049|0.9722|0.9185|0.9581||||||||||0.8173|0.5436|0.9857|0.8928|0.9202|0.9679|0.9402|0.8861|0.9181|0.8416|0.9477|0.9857|gnomADg_AMI|benign||1||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000461111|retained_intron||||||||||rs3128099|4922|1||SNV|HGNC|HGNC:329||||1||||||||1||||||0.8219|0.4894|0.9049|0.9722|0.9185|0.9581||||||||||0.8173|0.5436|0.9857|0.8928|0.9202|0.9679|0.9402|0.8861|0.9181|0.8416|0.9477|0.9857|gnomADg_AMI|benign||1||||||||||,G|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000466223|retained_intron||||||||||rs3128099|137|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.8219|0.4894|0.9049|0.9722|0.9185|0.9581||||||||||0.8173|0.5436|0.9857|0.8928|0.9202|0.9679|0.9402|0.8861|0.9181|0.8416|0.9477|0.9857|gnomADg_AMI|benign||1||||||||||,G|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000478677|retained_intron||||||||||rs3128099|411|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.8219|0.4894|0.9049|0.9722|0.9185|0.9581||||||||||0.8173|0.5436|0.9857|0.8928|0.9202|0.9679|0.9402|0.8861|0.9181|0.8416|0.9477|0.9857|gnomADg_AMI|benign||1||||||||||,G|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000479707|retained_intron||||||||||rs3128099|715|1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.8219|0.4894|0.9049|0.9722|0.9185|0.9581||||||||||0.8173|0.5436|0.9857|0.8928|0.9202|0.9679|0.9402|0.8861|0.9181|0.8416|0.9477|0.9857|gnomADg_AMI|benign||1||||||||||,G|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000492947|retained_intron||||||||||rs3128099|1465|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.8219|0.4894|0.9049|0.9722|0.9185|0.9581||||||||||0.8173|0.5436|0.9857|0.8928|0.9202|0.9679|0.9402|0.8861|0.9181|0.8416|0.9477|0.9857|gnomADg_AMI|benign||1||||||||||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||19/38|ENST00000620552.4:c.2974+107A>G|||||||rs3128099||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.8219|0.4894|0.9049|0.9722|0.9185|0.9581||||||||||0.8173|0.5436|0.9857|0.8928|0.9202|0.9679|0.9402|0.8861|0.9181|0.8416|0.9477|0.9857|gnomADg_AMI|benign||1||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||18/37|ENST00000651234.1:c.3073+107A>G|||||||rs3128099||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.8219|0.4894|0.9049|0.9722|0.9185|0.9581||||||||||0.8173|0.5436|0.9857|0.8928|0.9202|0.9679|0.9402|0.8861|0.9181|0.8416|0.9477|0.9857|gnomADg_AMI|benign||1||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||18/34|ENST00000652369.1:c.3073+107A>G|||||||rs3128099||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.8219|0.4894|0.9049|0.9722|0.9185|0.9581||||||||||0.8173|0.5436|0.9857|0.8928|0.9202|0.9679|0.9402|0.8861|0.9181|0.8416|0.9477|0.9857|gnomADg_AMI|benign||1||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,11:0.888:11:0,1:0,5:0,7:0,0,5,6 -chr1 1047082 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C4;DP=10;ECNT=3;GERMQ=58;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=104;POPAF=7.3;TLOD=18.91;SRC=snv;GRP=s001;CSQ=C|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||19/35|ENST00000379370.7:c.3388+125T>C|||||||rs3128100||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.9808|0.938|0.9841|1|0.997|1||||||||||0.9859|0.9538|1|0.9909|1|0.9998|1|0.9905|0.9991|0.9885|0.999|1|EAS&SAS&gnomADg_AMI&gnomADg_ASJ&gnomADg_FIN|benign||1||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000461111|retained_intron||||||||||rs3128100|4904|1||SNV|HGNC|HGNC:329||||1||||||||1||||||0.9808|0.938|0.9841|1|0.997|1||||||||||0.9859|0.9538|1|0.9909|1|0.9998|1|0.9905|0.9991|0.9885|0.999|1|EAS&SAS&gnomADg_AMI&gnomADg_ASJ&gnomADg_FIN|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000466223|retained_intron||||||||||rs3128100|119|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.9808|0.938|0.9841|1|0.997|1||||||||||0.9859|0.9538|1|0.9909|1|0.9998|1|0.9905|0.9991|0.9885|0.999|1|EAS&SAS&gnomADg_AMI&gnomADg_ASJ&gnomADg_FIN|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000478677|retained_intron||||||||||rs3128100|393|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.9808|0.938|0.9841|1|0.997|1||||||||||0.9859|0.9538|1|0.9909|1|0.9998|1|0.9905|0.9991|0.9885|0.999|1|EAS&SAS&gnomADg_AMI&gnomADg_ASJ&gnomADg_FIN|benign||1||||||||||,C|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000479707|retained_intron||||||||||rs3128100|733|1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.9808|0.938|0.9841|1|0.997|1||||||||||0.9859|0.9538|1|0.9909|1|0.9998|1|0.9905|0.9991|0.9885|0.999|1|EAS&SAS&gnomADg_AMI&gnomADg_ASJ&gnomADg_FIN|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000492947|retained_intron||||||||||rs3128100|1447|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.9808|0.938|0.9841|1|0.997|1||||||||||0.9859|0.9538|1|0.9909|1|0.9998|1|0.9905|0.9991|0.9885|0.999|1|EAS&SAS&gnomADg_AMI&gnomADg_ASJ&gnomADg_FIN|benign||1||||||||||,C|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||19/38|ENST00000620552.4:c.2974+125T>C|||||||rs3128100||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.9808|0.938|0.9841|1|0.997|1||||||||||0.9859|0.9538|1|0.9909|1|0.9998|1|0.9905|0.9991|0.9885|0.999|1|EAS&SAS&gnomADg_AMI&gnomADg_ASJ&gnomADg_FIN|benign||1||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||18/37|ENST00000651234.1:c.3073+125T>C|||||||rs3128100||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.9808|0.938|0.9841|1|0.997|1||||||||||0.9859|0.9538|1|0.9909|1|0.9998|1|0.9905|0.9991|0.9885|0.999|1|EAS&SAS&gnomADg_AMI&gnomADg_ASJ&gnomADg_FIN|benign||1||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||18/34|ENST00000652369.1:c.3073+125T>C|||||||rs3128100||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.9808|0.938|0.9841|1|0.997|1||||||||||0.9859|0.9538|1|0.9909|1|0.9998|1|0.9905|0.9991|0.9885|0.999|1|EAS&SAS&gnomADg_AMI&gnomADg_ASJ&gnomADg_FIN|benign||1||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.867:6:0,1:0,2:0,5:0,0,2,4 -chr1 1047133 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=3;GERMQ=52;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=52;POPAF=7.3;TLOD=14.61;SRC=snv;GRP=s001;CSQ=C|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||19/35|ENST00000379370.7:c.3388+176T>C|||||||rs3128101||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.9287|0.8343|0.938|0.999|0.9334|0.9724||||||||||0.9129|0.8451|0.9923|0.9367|0.9283|0.9998|0.9596|0.9082|0.9293|0.9178|0.9632|0.9998|gnomADg_EAS|benign||1||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000461111|retained_intron||||||||||rs3128101|4853|1||SNV|HGNC|HGNC:329||||1||||||||1||||||0.9287|0.8343|0.938|0.999|0.9334|0.9724||||||||||0.9129|0.8451|0.9923|0.9367|0.9283|0.9998|0.9596|0.9082|0.9293|0.9178|0.9632|0.9998|gnomADg_EAS|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000466223|retained_intron||||||||||rs3128101|68|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.9287|0.8343|0.938|0.999|0.9334|0.9724||||||||||0.9129|0.8451|0.9923|0.9367|0.9283|0.9998|0.9596|0.9082|0.9293|0.9178|0.9632|0.9998|gnomADg_EAS|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000478677|retained_intron||||||||||rs3128101|342|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.9287|0.8343|0.938|0.999|0.9334|0.9724||||||||||0.9129|0.8451|0.9923|0.9367|0.9283|0.9998|0.9596|0.9082|0.9293|0.9178|0.9632|0.9998|gnomADg_EAS|benign||1||||||||||,C|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000479707|retained_intron||||||||||rs3128101|784|1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.9287|0.8343|0.938|0.999|0.9334|0.9724||||||||||0.9129|0.8451|0.9923|0.9367|0.9283|0.9998|0.9596|0.9082|0.9293|0.9178|0.9632|0.9998|gnomADg_EAS|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000492947|retained_intron||||||||||rs3128101|1396|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.9287|0.8343|0.938|0.999|0.9334|0.9724||||||||||0.9129|0.8451|0.9923|0.9367|0.9283|0.9998|0.9596|0.9082|0.9293|0.9178|0.9632|0.9998|gnomADg_EAS|benign||1||||||||||,C|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||19/38|ENST00000620552.4:c.2974+176T>C|||||||rs3128101||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.9287|0.8343|0.938|0.999|0.9334|0.9724||||||||||0.9129|0.8451|0.9923|0.9367|0.9283|0.9998|0.9596|0.9082|0.9293|0.9178|0.9632|0.9998|gnomADg_EAS|benign||1||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||18/37|ENST00000651234.1:c.3073+176T>C|||||||rs3128101||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.9287|0.8343|0.938|0.999|0.9334|0.9724||||||||||0.9129|0.8451|0.9923|0.9367|0.9283|0.9998|0.9596|0.9082|0.9293|0.9178|0.9632|0.9998|gnomADg_EAS|benign||1||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||18/34|ENST00000652369.1:c.3073+176T>C|||||||rs3128101||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.9287|0.8343|0.938|0.999|0.9334|0.9724||||||||||0.9129|0.8451|0.9923|0.9367|0.9283|0.9998|0.9596|0.9082|0.9293|0.9178|0.9632|0.9998|gnomADg_EAS|benign||1||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.8:4:0,1:0,2:0,3:0,0,2,2 -chr1 1047233 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C3|1%2C1;DP=8;ECNT=1;GERMQ=42;MBQ=32,34;MFRL=0,0;MMQ=60,60;MPOS=57;POPAF=7.3;TLOD=6.18;SRC=snv;GRP=s001;CSQ=C|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding||19/35|ENST00000379370.7:c.3389-94T>C|||||||||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||||||||||||||||||||||||||||||||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000461111|retained_intron|||||||||||4753|1||SNV|HGNC|HGNC:329||||1||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000466223|retained_intron|1/3||ENST00000466223.1:n.33T>C||33|||||||1||SNV|HGNC|HGNC:329||||2||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000478677|retained_intron|||||||||||242|1||SNV|HGNC|HGNC:329||||2||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000479707|retained_intron|||||||||||884|1||SNV|HGNC|HGNC:329||||3||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000492947|retained_intron|||||||||||1296|1||SNV|HGNC|HGNC:329||||2||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding||19/38|ENST00000620552.4:c.2975-94T>C|||||||||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||||||||||||||||||||||||||||||||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding||18/37|ENST00000651234.1:c.3074-94T>C|||||||||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||||||||||||||||||||||||||||||||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|intron_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding||18/34|ENST00000652369.1:c.3074-94T>C|||||||||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||||||||||||||||||||||||||||||||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,2:0.286:8:0,0:3,1:4,1:3,3,1,1 -chr1 1047614 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=25;POPAF=7.3;TLOD=7.45;SRC=snv;GRP=s001;CSQ=C|synonymous_variant|LOW|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding|21/36||ENST00000379370.7:c.3558T>C|ENSP00000368678.2:p.Phe1186%3D|3611|3558|1186|F|ttT/ttC|rs10267&COSV65071416||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.8359|0.5151|0.9035|0.999|0.9205|0.9663|0.9083|0.5251|0.9388|0.9227|0.9995|0.9532|0.9167|0.9079|0.9527|0.8196|0.5382|0.9857|0.8959|0.9237|0.9992|0.958|0.879|0.92|0.8461|0.9566|0.9995|gnomADe_EAS|benign|0&1|1&1|25741868&18414213|||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000461111|retained_intron||||||||||rs10267&COSV65071416|4372|1||SNV|HGNC|HGNC:329||||1||||||||1||||||0.8359|0.5151|0.9035|0.999|0.9205|0.9663|0.9083|0.5251|0.9388|0.9227|0.9995|0.9532|0.9167|0.9079|0.9527|0.8196|0.5382|0.9857|0.8959|0.9237|0.9992|0.958|0.879|0.92|0.8461|0.9566|0.9995|gnomADe_EAS|benign|0&1|1&1|25741868&18414213|||||||||,C|non_coding_transcript_exon_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000466223|retained_intron|2/3||ENST00000466223.1:n.296T>C||296|||||rs10267&COSV65071416||1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.8359|0.5151|0.9035|0.999|0.9205|0.9663|0.9083|0.5251|0.9388|0.9227|0.9995|0.9532|0.9167|0.9079|0.9527|0.8196|0.5382|0.9857|0.8959|0.9237|0.9992|0.958|0.879|0.92|0.8461|0.9566|0.9995|gnomADe_EAS|benign|0&1|1&1|25741868&18414213|||||||||,C|non_coding_transcript_exon_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000478677|retained_intron|1/2||ENST00000478677.1:n.140T>C||140|||||rs10267&COSV65071416||1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.8359|0.5151|0.9035|0.999|0.9205|0.9663|0.9083|0.5251|0.9388|0.9227|0.9995|0.9532|0.9167|0.9079|0.9527|0.8196|0.5382|0.9857|0.8959|0.9237|0.9992|0.958|0.879|0.92|0.8461|0.9566|0.9995|gnomADe_EAS|benign|0&1|1&1|25741868&18414213|||||||||,C|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000479707|retained_intron||||||||||rs10267&COSV65071416|1265|1||SNV|HGNC|HGNC:329||||3||||||||1||||||0.8359|0.5151|0.9035|0.999|0.9205|0.9663|0.9083|0.5251|0.9388|0.9227|0.9995|0.9532|0.9167|0.9079|0.9527|0.8196|0.5382|0.9857|0.8959|0.9237|0.9992|0.958|0.879|0.92|0.8461|0.9566|0.9995|gnomADe_EAS|benign|0&1|1&1|25741868&18414213|||||||||,C|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000492947|retained_intron||||||||||rs10267&COSV65071416|915|1||SNV|HGNC|HGNC:329||||2||||||||1||||||0.8359|0.5151|0.9035|0.999|0.9205|0.9663|0.9083|0.5251|0.9388|0.9227|0.9995|0.9532|0.9167|0.9079|0.9527|0.8196|0.5382|0.9857|0.8959|0.9237|0.9992|0.958|0.879|0.92|0.8461|0.9566|0.9995|gnomADe_EAS|benign|0&1|1&1|25741868&18414213|||||||||,C|synonymous_variant|LOW|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding|21/39||ENST00000620552.4:c.3144T>C|ENSP00000484607.1:p.Phe1048%3D|3608|3144|1048|F|ttT/ttC|rs10267&COSV65071416||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.8359|0.5151|0.9035|0.999|0.9205|0.9663|0.9083|0.5251|0.9388|0.9227|0.9995|0.9532|0.9167|0.9079|0.9527|0.8196|0.5382|0.9857|0.8959|0.9237|0.9992|0.958|0.879|0.92|0.8461|0.9566|0.9995|gnomADe_EAS|benign|0&1|1&1|25741868&18414213|||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|synonymous_variant|LOW|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding|20/38||ENST00000651234.1:c.3243T>C|ENSP00000499046.1:p.Phe1081%3D|3693|3243|1081|F|ttT/ttC|rs10267&COSV65071416||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.8359|0.5151|0.9035|0.999|0.9205|0.9663|0.9083|0.5251|0.9388|0.9227|0.9995|0.9532|0.9167|0.9079|0.9527|0.8196|0.5382|0.9857|0.8959|0.9237|0.9992|0.958|0.879|0.92|0.8461|0.9566|0.9995|gnomADe_EAS|benign|0&1|1&1|25741868&18414213|||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|synonymous_variant|LOW|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding|20/35||ENST00000652369.1:c.3243T>C|ENSP00000498543.1:p.Phe1081%3D|3693|3243|1081|F|ttT/ttC|rs10267&COSV65071416||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.8359|0.5151|0.9035|0.999|0.9205|0.9663|0.9083|0.5251|0.9388|0.9227|0.9995|0.9532|0.9167|0.9079|0.9527|0.8196|0.5382|0.9857|0.8959|0.9237|0.9992|0.958|0.879|0.92|0.8461|0.9566|0.9995|gnomADe_EAS|benign|0&1|1&1|25741868&18414213|||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1048096 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=22%2C16|1%2C1;DP=43;ECNT=1;GERMQ=93;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=47;POPAF=7.3;TLOD=4.7;SRC=snv;GRP=s001;CSQ=C|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding|23/36||ENST00000379370.7:c.3836T>C|ENSP00000368678.2:p.Leu1279Pro|3889|3836|1279|L/P|cTg/cCg|||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1|tolerated_low_confidence(0.26)|||||||||||||||||||||||||||||||||||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000461111|retained_intron|||||||||||3890|1||SNV|HGNC|HGNC:329||||1||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000466223|retained_intron|||||||||||231|1||SNV|HGNC|HGNC:329||||2||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000478677|retained_intron|||||||||||258|1||SNV|HGNC|HGNC:329||||2||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000479707|retained_intron|||||||||||1747|1||SNV|HGNC|HGNC:329||||3||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000492947|retained_intron|||||||||||433|1||SNV|HGNC|HGNC:329||||2||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding|23/39||ENST00000620552.4:c.3422T>C|ENSP00000484607.1:p.Leu1141Pro|3886|3422|1141|L/P|cTg/cCg|||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1|tolerated_low_confidence(0.29)|benign(0.059)||||||||||||||||||||||||||||||||||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding|22/38||ENST00000651234.1:c.3521T>C|ENSP00000499046.1:p.Leu1174Pro|3971|3521|1174|L/P|cTg/cCg|||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1|tolerated_low_confidence(0.28)|benign(0.443)||||||||||||||||||||||||||||||||||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding|22/35||ENST00000652369.1:c.3521T>C|ENSP00000498543.1:p.Leu1174Pro|3971|3521|1174|L/P|cTg/cCg|||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1|tolerated_low_confidence(0.31)|benign(0.398)||||||||||||||||||||||||||||||||||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:38,2:0.079:40:0,0:22,1:22,1:22,16,1,1 -chr1 1048912 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=7%2C7|1%2C1;DP=16;ECNT=1;GERMQ=57;MBQ=35,33;MFRL=0,0;MMQ=60,60;MPOS=53;POPAF=7.3;TLOD=5.41;SRC=snv;GRP=s001;CSQ=T|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding|24/36||ENST00000379370.7:c.4151C>T|ENSP00000368678.2:p.Ala1384Val|4204|4151|1384|A/V|gCc/gTc|rs1280056170||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1|deleterious_low_confidence(0)|||||||||||0|0|0|0|0|0|0|0|0|6.583e-06|0|0|0|0|0|0|0|1.471e-05|0|0|1.471e-05|gnomADg_NFE|||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|upstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000461111|retained_intron||||||||||rs1280056170|3074|1||SNV|HGNC|HGNC:329||||1||||||||1||||||||||||0|0|0|0|0|0|0|0|0|6.583e-06|0|0|0|0|0|0|0|1.471e-05|0|0|1.471e-05|gnomADg_NFE|||||||||||||,T|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000466223|retained_intron||||||||||rs1280056170|1047|1||SNV|HGNC|HGNC:329||||2||||||||1||||||||||||0|0|0|0|0|0|0|0|0|6.583e-06|0|0|0|0|0|0|0|1.471e-05|0|0|1.471e-05|gnomADg_NFE|||||||||||||,T|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000478677|retained_intron||||||||||rs1280056170|1074|1||SNV|HGNC|HGNC:329||||2||||||||1||||||||||||0|0|0|0|0|0|0|0|0|6.583e-06|0|0|0|0|0|0|0|1.471e-05|0|0|1.471e-05|gnomADg_NFE|||||||||||||,T|downstream_gene_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000479707|retained_intron||||||||||rs1280056170|2563|1||SNV|HGNC|HGNC:329||||3||||||||1||||||||||||0|0|0|0|0|0|0|0|0|6.583e-06|0|0|0|0|0|0|0|1.471e-05|0|0|1.471e-05|gnomADg_NFE|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000492947|retained_intron|1/2||ENST00000492947.1:n.384C>T||384|||||rs1280056170||1||SNV|HGNC|HGNC:329||||2||||||||1||||||||||||0|0|0|0|0|0|0|0|0|6.583e-06|0|0|0|0|0|0|0|1.471e-05|0|0|1.471e-05|gnomADg_NFE|||||||||||||,T|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding|24/39||ENST00000620552.4:c.3737C>T|ENSP00000484607.1:p.Ala1246Val|4201|3737|1246|A/V|gCc/gTc|rs1280056170||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1|deleterious_low_confidence(0)|benign(0.165)||||||||||0|0|0|0|0|0|0|0|0|6.583e-06|0|0|0|0|0|0|0|1.471e-05|0|0|1.471e-05|gnomADg_NFE|||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding|23/38||ENST00000651234.1:c.3836C>T|ENSP00000499046.1:p.Ala1279Val|4286|3836|1279|A/V|gCc/gTc|rs1280056170||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1|deleterious_low_confidence(0)|possibly_damaging(0.608)||||||||||0|0|0|0|0|0|0|0|0|6.583e-06|0|0|0|0|0|0|0|1.471e-05|0|0|1.471e-05|gnomADg_NFE|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding|23/35||ENST00000652369.1:c.3836C>T|ENSP00000498543.1:p.Ala1279Val|4286|3836|1279|A/V|gCc/gTc|rs1280056170||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1|deleterious_low_confidence(0)|possibly_damaging(0.715)||||||||||0|0|0|0|0|0|0|0|0|6.583e-06|0|0|0|0|0|0|0|1.471e-05|0|0|1.471e-05|gnomADg_NFE|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:14,2:0.167:16:2,0:7,1:9,1:7,7,1,1 -chr1 1054866 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=6%2C4|1%2C1;DP=12;ECNT=1;GERMQ=49;MBQ=35,33;MFRL=0,0;MMQ=60,60;MPOS=55;POPAF=7.3;TLOD=5.81;SRC=snv;GRP=s001;CSQ=G|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding|36/36||ENST00000379370.7:c.6023C>G|ENSP00000368678.2:p.Ala2008Gly|6076|6023|2008|A/G|gCc/gGc|||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1|deleterious_low_confidence(0)|||||||||||||||||||||||||||||||||||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA|||||||||||4842|1||SNV||||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000242590|Transcript|ENST00000418300|lncRNA|||||||||||167|1||SNV|||YES|||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA|||||||||||4863|1||SNV||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA|||||||||||4827|1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000461111|retained_intron|3/3||ENST00000461111.1:n.2139C>G||2139|||||||1||SNV|HGNC|HGNC:329||||1||||||||1||||||||||||||||||||||||||||||||||||||||||||||,G|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding|39/39||ENST00000620552.4:c.5678C>G|ENSP00000484607.1:p.Ala1893Gly|6142|5678|1893|A/G|gCc/gGc|||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1|deleterious_low_confidence(0)|possibly_damaging(0.503)||||||||||||||||||||||||||||||||||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding|38/38||ENST00000651234.1:c.5777C>G|ENSP00000499046.1:p.Ala1926Gly|6227|5777|1926|A/G|gCc/gGc|||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1|deleterious_low_confidence(0)|possibly_damaging(0.503)||||||||||||||||||||||||||||||||||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|missense_variant|MODERATE|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding|35/35||ENST00000652369.1:c.5708C>G|ENSP00000498543.1:p.Ala1903Gly|6158|5708|1903|A/G|gCc/gGc|||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1|deleterious_low_confidence(0)|benign(0.241)||||||||||||||||||||||||||||||||||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,G|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA|||||||||||4864|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA|||||||||||4821|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA|||||||||||4868|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA|||||||||||4834|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA|||||||||||4834|1||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:10,2:0.222:12:0,0:6,1:6,1:6,4,1,1 -chr1 1055000 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|15%2C16;DP=33;ECNT=3;GERMQ=93;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=60;POPAF=7.3;TLOD=113.32;SRC=snv;GRP=s001;CSQ=T|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding|36/36||ENST00000379370.7:c.*19C>T||6210|||||rs3121561&COSV65069616||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.3434|0.5461|0.2594|0.1726|0.3091|0.3405|0.2913|0.5233|0.2137|0.3111|0.1794|0.3513|0.292|0.2986|0.3087|0.3513|0.5072|0.3268|0.2538|0.3073|0.1829|0.3612|0.3418|0.2946|0.3471|0.319|0.5461|AFR|benign|0&1|1&1|25741868|||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA||||||||||rs3121561&COSV65069616|4708|1||SNV||||||5||||||||||||||0.3434|0.5461|0.2594|0.1726|0.3091|0.3405|0.2913|0.5233|0.2137|0.3111|0.1794|0.3513|0.292|0.2986|0.3087|0.3513|0.5072|0.3268|0.2538|0.3073|0.1829|0.3612|0.3418|0.2946|0.3471|0.319|0.5461|AFR|benign|0&1|1&1|25741868|||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000242590|Transcript|ENST00000418300|lncRNA||||||||||rs3121561&COSV65069616|33|1||SNV|||YES|||3||||||||||||||0.3434|0.5461|0.2594|0.1726|0.3091|0.3405|0.2913|0.5233|0.2137|0.3111|0.1794|0.3513|0.292|0.2986|0.3087|0.3513|0.5072|0.3268|0.2538|0.3073|0.1829|0.3612|0.3418|0.2946|0.3471|0.319|0.5461|AFR|benign|0&1|1&1|25741868|||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA||||||||||rs3121561&COSV65069616|4729|1||SNV||||||1||||||||||||||0.3434|0.5461|0.2594|0.1726|0.3091|0.3405|0.2913|0.5233|0.2137|0.3111|0.1794|0.3513|0.292|0.2986|0.3087|0.3513|0.5072|0.3268|0.2538|0.3073|0.1829|0.3612|0.3418|0.2946|0.3471|0.319|0.5461|AFR|benign|0&1|1&1|25741868|||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA||||||||||rs3121561&COSV65069616|4693|1||SNV|||YES|||2||||||||||||||0.3434|0.5461|0.2594|0.1726|0.3091|0.3405|0.2913|0.5233|0.2137|0.3111|0.1794|0.3513|0.292|0.2986|0.3087|0.3513|0.5072|0.3268|0.2538|0.3073|0.1829|0.3612|0.3418|0.2946|0.3471|0.319|0.5461|AFR|benign|0&1|1&1|25741868|||||||||,T|non_coding_transcript_exon_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000461111|retained_intron|3/3||ENST00000461111.1:n.2273C>T||2273|||||rs3121561&COSV65069616||1||SNV|HGNC|HGNC:329||||1||||||||1||||||0.3434|0.5461|0.2594|0.1726|0.3091|0.3405|0.2913|0.5233|0.2137|0.3111|0.1794|0.3513|0.292|0.2986|0.3087|0.3513|0.5072|0.3268|0.2538|0.3073|0.1829|0.3612|0.3418|0.2946|0.3471|0.319|0.5461|AFR|benign|0&1|1&1|25741868|||||||||,T|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding|39/39||ENST00000620552.4:c.*19C>T||6276|||||rs3121561&COSV65069616||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.3434|0.5461|0.2594|0.1726|0.3091|0.3405|0.2913|0.5233|0.2137|0.3111|0.1794|0.3513|0.292|0.2986|0.3087|0.3513|0.5072|0.3268|0.2538|0.3073|0.1829|0.3612|0.3418|0.2946|0.3471|0.319|0.5461|AFR|benign|0&1|1&1|25741868|||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding|38/38||ENST00000651234.1:c.*19C>T||6361|||||rs3121561&COSV65069616||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.3434|0.5461|0.2594|0.1726|0.3091|0.3405|0.2913|0.5233|0.2137|0.3111|0.1794|0.3513|0.292|0.2986|0.3087|0.3513|0.5072|0.3268|0.2538|0.3073|0.1829|0.3612|0.3418|0.2946|0.3471|0.319|0.5461|AFR|benign|0&1|1&1|25741868|||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding|35/35||ENST00000652369.1:c.*19C>T||6292|||||rs3121561&COSV65069616||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.3434|0.5461|0.2594|0.1726|0.3091|0.3405|0.2913|0.5233|0.2137|0.3111|0.1794|0.3513|0.292|0.2986|0.3087|0.3513|0.5072|0.3268|0.2538|0.3073|0.1829|0.3612|0.3418|0.2946|0.3471|0.319|0.5461|AFR|benign|0&1|1&1|25741868|||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA||||||||||rs3121561&COSV65069616|4730|1||SNV||||||||||||||||||||0.3434|0.5461|0.2594|0.1726|0.3091|0.3405|0.2913|0.5233|0.2137|0.3111|0.1794|0.3513|0.292|0.2986|0.3087|0.3513|0.5072|0.3268|0.2538|0.3073|0.1829|0.3612|0.3418|0.2946|0.3471|0.319|0.5461|AFR|benign|0&1|1&1|25741868|||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA||||||||||rs3121561&COSV65069616|4687|1||SNV||||||||||||||||||||0.3434|0.5461|0.2594|0.1726|0.3091|0.3405|0.2913|0.5233|0.2137|0.3111|0.1794|0.3513|0.292|0.2986|0.3087|0.3513|0.5072|0.3268|0.2538|0.3073|0.1829|0.3612|0.3418|0.2946|0.3471|0.319|0.5461|AFR|benign|0&1|1&1|25741868|||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA||||||||||rs3121561&COSV65069616|4734|1||SNV||||||||||||||||||||0.3434|0.5461|0.2594|0.1726|0.3091|0.3405|0.2913|0.5233|0.2137|0.3111|0.1794|0.3513|0.292|0.2986|0.3087|0.3513|0.5072|0.3268|0.2538|0.3073|0.1829|0.3612|0.3418|0.2946|0.3471|0.319|0.5461|AFR|benign|0&1|1&1|25741868|||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA||||||||||rs3121561&COSV65069616|4700|1||SNV||||||||||||||||||||0.3434|0.5461|0.2594|0.1726|0.3091|0.3405|0.2913|0.5233|0.2137|0.3111|0.1794|0.3513|0.292|0.2986|0.3087|0.3513|0.5072|0.3268|0.2538|0.3073|0.1829|0.3612|0.3418|0.2946|0.3471|0.319|0.5461|AFR|benign|0&1|1&1|25741868|||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA||||||||||rs3121561&COSV65069616|4700|1||SNV||||||||||||||||||||0.3434|0.5461|0.2594|0.1726|0.3091|0.3405|0.2913|0.5233|0.2137|0.3111|0.1794|0.3513|0.292|0.2986|0.3087|0.3513|0.5072|0.3268|0.2538|0.3073|0.1829|0.3612|0.3418|0.2946|0.3471|0.319|0.5461|AFR|benign|0&1|1&1|25741868||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,31:0.948:31:0,1:0,15:0,17:0,0,15,16 -chr1 1055037 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|13%2C13;DP=30;ECNT=3;GERMQ=93;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=88;POPAF=7.3;TLOD=92.44;SRC=snv;GRP=s001;CSQ=C|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding|36/36||ENST00000379370.7:c.*56T>C||6247|||||rs2465136&COSV65069776||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.3840|0.6475|0.2723|0.1786|0.3211|0.3834||||||||||0.3856|0.6015|0.3264|0.2705|0.3372|0.1879|0.3653|0.3608|0.303|0.3834|0.3683|0.6475|AFR|benign|0&1|1&1|36224396|||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA||||||||||rs2465136&COSV65069776|4671|1||SNV||||||5||||||||||||||0.3840|0.6475|0.2723|0.1786|0.3211|0.3834||||||||||0.3856|0.6015|0.3264|0.2705|0.3372|0.1879|0.3653|0.3608|0.303|0.3834|0.3683|0.6475|AFR|benign|0&1|1&1|36224396|||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000242590|Transcript|ENST00000418300|lncRNA|1/2||ENST00000418300.1:n.5T>C||5|||||rs2465136&COSV65069776||1||SNV|||YES|||3||||||||||||||0.3840|0.6475|0.2723|0.1786|0.3211|0.3834||||||||||0.3856|0.6015|0.3264|0.2705|0.3372|0.1879|0.3653|0.3608|0.303|0.3834|0.3683|0.6475|AFR|benign|0&1|1&1|36224396|||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA||||||||||rs2465136&COSV65069776|4692|1||SNV||||||1||||||||||||||0.3840|0.6475|0.2723|0.1786|0.3211|0.3834||||||||||0.3856|0.6015|0.3264|0.2705|0.3372|0.1879|0.3653|0.3608|0.303|0.3834|0.3683|0.6475|AFR|benign|0&1|1&1|36224396|||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA||||||||||rs2465136&COSV65069776|4656|1||SNV|||YES|||2||||||||||||||0.3840|0.6475|0.2723|0.1786|0.3211|0.3834||||||||||0.3856|0.6015|0.3264|0.2705|0.3372|0.1879|0.3653|0.3608|0.303|0.3834|0.3683|0.6475|AFR|benign|0&1|1&1|36224396|||||||||,C|non_coding_transcript_exon_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000461111|retained_intron|3/3||ENST00000461111.1:n.2310T>C||2310|||||rs2465136&COSV65069776||1||SNV|HGNC|HGNC:329||||1||||||||1||||||0.3840|0.6475|0.2723|0.1786|0.3211|0.3834||||||||||0.3856|0.6015|0.3264|0.2705|0.3372|0.1879|0.3653|0.3608|0.303|0.3834|0.3683|0.6475|AFR|benign|0&1|1&1|36224396|||||||||,C|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding|39/39||ENST00000620552.4:c.*56T>C||6313|||||rs2465136&COSV65069776||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.3840|0.6475|0.2723|0.1786|0.3211|0.3834||||||||||0.3856|0.6015|0.3264|0.2705|0.3372|0.1879|0.3653|0.3608|0.303|0.3834|0.3683|0.6475|AFR|benign|0&1|1&1|36224396|||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding|38/38||ENST00000651234.1:c.*56T>C||6398|||||rs2465136&COSV65069776||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.3840|0.6475|0.2723|0.1786|0.3211|0.3834||||||||||0.3856|0.6015|0.3264|0.2705|0.3372|0.1879|0.3653|0.3608|0.303|0.3834|0.3683|0.6475|AFR|benign|0&1|1&1|36224396|||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding|35/35||ENST00000652369.1:c.*56T>C||6329|||||rs2465136&COSV65069776||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.3840|0.6475|0.2723|0.1786|0.3211|0.3834||||||||||0.3856|0.6015|0.3264|0.2705|0.3372|0.1879|0.3653|0.3608|0.303|0.3834|0.3683|0.6475|AFR|benign|0&1|1&1|36224396|||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,C|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA||||||||||rs2465136&COSV65069776|4693|1||SNV||||||||||||||||||||0.3840|0.6475|0.2723|0.1786|0.3211|0.3834||||||||||0.3856|0.6015|0.3264|0.2705|0.3372|0.1879|0.3653|0.3608|0.303|0.3834|0.3683|0.6475|AFR|benign|0&1|1&1|36224396|||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA||||||||||rs2465136&COSV65069776|4650|1||SNV||||||||||||||||||||0.3840|0.6475|0.2723|0.1786|0.3211|0.3834||||||||||0.3856|0.6015|0.3264|0.2705|0.3372|0.1879|0.3653|0.3608|0.303|0.3834|0.3683|0.6475|AFR|benign|0&1|1&1|36224396|||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA||||||||||rs2465136&COSV65069776|4697|1||SNV||||||||||||||||||||0.3840|0.6475|0.2723|0.1786|0.3211|0.3834||||||||||0.3856|0.6015|0.3264|0.2705|0.3372|0.1879|0.3653|0.3608|0.303|0.3834|0.3683|0.6475|AFR|benign|0&1|1&1|36224396|||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA||||||||||rs2465136&COSV65069776|4663|1||SNV||||||||||||||||||||0.3840|0.6475|0.2723|0.1786|0.3211|0.3834||||||||||0.3856|0.6015|0.3264|0.2705|0.3372|0.1879|0.3653|0.3608|0.303|0.3834|0.3683|0.6475|AFR|benign|0&1|1&1|36224396|||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA||||||||||rs2465136&COSV65069776|4663|1||SNV||||||||||||||||||||0.3840|0.6475|0.2723|0.1786|0.3211|0.3834||||||||||0.3856|0.6015|0.3264|0.2705|0.3372|0.1879|0.3653|0.3608|0.303|0.3834|0.3683|0.6475|AFR|benign|0&1|1&1|36224396||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,26:0.944:26:0,1:0,12:0,15:0,0,13,13 -chr1 1055137 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|19%2C14;DP=34;ECNT=3;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=54;POPAF=7.3;TLOD=114.95;SRC=snv;GRP=s001;CSQ=T|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding|36/36||ENST00000379370.7:c.*156C>T||6347|||||rs2710872||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.9179|0.8419|0.928|0.999|0.8877|0.9611||||||||||0.8799|0.8408|0.9221|0.9221|0.9096|0.9996|0.8966|0.9019|0.8754|0.8926|0.9452|0.9996|gnomADg_EAS|benign||1|32314116|||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA||||||||||rs2710872|4571|1||SNV||||||5||||||||||||||0.9179|0.8419|0.928|0.999|0.8877|0.9611||||||||||0.8799|0.8408|0.9221|0.9221|0.9096|0.9996|0.8966|0.9019|0.8754|0.8926|0.9452|0.9996|gnomADg_EAS|benign||1|32314116|||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000242590|Transcript|ENST00000418300|lncRNA|1/2||ENST00000418300.1:n.105C>T||105|||||rs2710872||1||SNV|||YES|||3||||||||||||||0.9179|0.8419|0.928|0.999|0.8877|0.9611||||||||||0.8799|0.8408|0.9221|0.9221|0.9096|0.9996|0.8966|0.9019|0.8754|0.8926|0.9452|0.9996|gnomADg_EAS|benign||1|32314116|||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA||||||||||rs2710872|4592|1||SNV||||||1||||||||||||||0.9179|0.8419|0.928|0.999|0.8877|0.9611||||||||||0.8799|0.8408|0.9221|0.9221|0.9096|0.9996|0.8966|0.9019|0.8754|0.8926|0.9452|0.9996|gnomADg_EAS|benign||1|32314116|||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA||||||||||rs2710872|4556|1||SNV|||YES|||2||||||||||||||0.9179|0.8419|0.928|0.999|0.8877|0.9611||||||||||0.8799|0.8408|0.9221|0.9221|0.9096|0.9996|0.8966|0.9019|0.8754|0.8926|0.9452|0.9996|gnomADg_EAS|benign||1|32314116|||||||||,T|non_coding_transcript_exon_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000461111|retained_intron|3/3||ENST00000461111.1:n.2410C>T||2410|||||rs2710872||1||SNV|HGNC|HGNC:329||||1||||||||1||||||0.9179|0.8419|0.928|0.999|0.8877|0.9611||||||||||0.8799|0.8408|0.9221|0.9221|0.9096|0.9996|0.8966|0.9019|0.8754|0.8926|0.9452|0.9996|gnomADg_EAS|benign||1|32314116|||||||||,T|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding|39/39||ENST00000620552.4:c.*156C>T||6413|||||rs2710872||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.9179|0.8419|0.928|0.999|0.8877|0.9611||||||||||0.8799|0.8408|0.9221|0.9221|0.9096|0.9996|0.8966|0.9019|0.8754|0.8926|0.9452|0.9996|gnomADg_EAS|benign||1|32314116|||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding|38/38||ENST00000651234.1:c.*156C>T||6498|||||rs2710872||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.9179|0.8419|0.928|0.999|0.8877|0.9611||||||||||0.8799|0.8408|0.9221|0.9221|0.9096|0.9996|0.8966|0.9019|0.8754|0.8926|0.9452|0.9996|gnomADg_EAS|benign||1|32314116|||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding|35/35||ENST00000652369.1:c.*156C>T||6429|||||rs2710872||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.9179|0.8419|0.928|0.999|0.8877|0.9611||||||||||0.8799|0.8408|0.9221|0.9221|0.9096|0.9996|0.8966|0.9019|0.8754|0.8926|0.9452|0.9996|gnomADg_EAS|benign||1|32314116|||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA||||||||||rs2710872|4593|1||SNV||||||||||||||||||||0.9179|0.8419|0.928|0.999|0.8877|0.9611||||||||||0.8799|0.8408|0.9221|0.9221|0.9096|0.9996|0.8966|0.9019|0.8754|0.8926|0.9452|0.9996|gnomADg_EAS|benign||1|32314116|||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA||||||||||rs2710872|4550|1||SNV||||||||||||||||||||0.9179|0.8419|0.928|0.999|0.8877|0.9611||||||||||0.8799|0.8408|0.9221|0.9221|0.9096|0.9996|0.8966|0.9019|0.8754|0.8926|0.9452|0.9996|gnomADg_EAS|benign||1|32314116|||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA||||||||||rs2710872|4597|1||SNV||||||||||||||||||||0.9179|0.8419|0.928|0.999|0.8877|0.9611||||||||||0.8799|0.8408|0.9221|0.9221|0.9096|0.9996|0.8966|0.9019|0.8754|0.8926|0.9452|0.9996|gnomADg_EAS|benign||1|32314116|||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA||||||||||rs2710872|4563|1||SNV||||||||||||||||||||0.9179|0.8419|0.928|0.999|0.8877|0.9611||||||||||0.8799|0.8408|0.9221|0.9221|0.9096|0.9996|0.8966|0.9019|0.8754|0.8926|0.9452|0.9996|gnomADg_EAS|benign||1|32314116|||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA||||||||||rs2710872|4563|1||SNV||||||||||||||||||||0.9179|0.8419|0.928|0.999|0.8877|0.9611||||||||||0.8799|0.8408|0.9221|0.9221|0.9096|0.9996|0.8966|0.9019|0.8754|0.8926|0.9452|0.9996|gnomADg_EAS|benign||1|32314116||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,33:0.955:33:0,0:0,18:0,20:0,0,19,14 -chr1 1055393 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|13%2C17;DP=31;ECNT=2;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=79;POPAF=7.3;TLOD=102.54;SRC=snv;GRP=s001;CSQ=T|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding|36/36||ENST00000379370.7:c.*412C>T||6603|||||rs2799072||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.8460|0.6233|0.9107|0.9931|0.8787|0.9162||||||||||0.8172|0.6444|0.9221|0.8985|0.883|0.9948|0.8933|0.8987|0.867|0.8392|0.8986|0.9948|gnomADg_EAS|||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA||||||||||rs2799072|4315|1||SNV||||||5||||||||||||||0.8460|0.6233|0.9107|0.9931|0.8787|0.9162||||||||||0.8172|0.6444|0.9221|0.8985|0.883|0.9948|0.8933|0.8987|0.867|0.8392|0.8986|0.9948|gnomADg_EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000242590|Transcript|ENST00000418300|lncRNA||1/1|ENST00000418300.1:n.183+178C>T|||||||rs2799072||1||SNV|||YES|||3||||||||||||||0.8460|0.6233|0.9107|0.9931|0.8787|0.9162||||||||||0.8172|0.6444|0.9221|0.8985|0.883|0.9948|0.8933|0.8987|0.867|0.8392|0.8986|0.9948|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA||||||||||rs2799072|4336|1||SNV||||||1||||||||||||||0.8460|0.6233|0.9107|0.9931|0.8787|0.9162||||||||||0.8172|0.6444|0.9221|0.8985|0.883|0.9948|0.8933|0.8987|0.867|0.8392|0.8986|0.9948|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA||||||||||rs2799072|4300|1||SNV|||YES|||2||||||||||||||0.8460|0.6233|0.9107|0.9931|0.8787|0.9162||||||||||0.8172|0.6444|0.9221|0.8985|0.883|0.9948|0.8933|0.8987|0.867|0.8392|0.8986|0.9948|gnomADg_EAS|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000461111|retained_intron|3/3||ENST00000461111.1:n.2666C>T||2666|||||rs2799072||1||SNV|HGNC|HGNC:329||||1||||||||1||||||0.8460|0.6233|0.9107|0.9931|0.8787|0.9162||||||||||0.8172|0.6444|0.9221|0.8985|0.883|0.9948|0.8933|0.8987|0.867|0.8392|0.8986|0.9948|gnomADg_EAS|||||||||||||,T|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding|39/39||ENST00000620552.4:c.*412C>T||6669|||||rs2799072||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.8460|0.6233|0.9107|0.9931|0.8787|0.9162||||||||||0.8172|0.6444|0.9221|0.8985|0.883|0.9948|0.8933|0.8987|0.867|0.8392|0.8986|0.9948|gnomADg_EAS|||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding|38/38||ENST00000651234.1:c.*412C>T||6754|||||rs2799072||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.8460|0.6233|0.9107|0.9931|0.8787|0.9162||||||||||0.8172|0.6444|0.9221|0.8985|0.883|0.9948|0.8933|0.8987|0.867|0.8392|0.8986|0.9948|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding|35/35||ENST00000652369.1:c.*412C>T||6685|||||rs2799072||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.8460|0.6233|0.9107|0.9931|0.8787|0.9162||||||||||0.8172|0.6444|0.9221|0.8985|0.883|0.9948|0.8933|0.8987|0.867|0.8392|0.8986|0.9948|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA||||||||||rs2799072|4337|1||SNV||||||||||||||||||||0.8460|0.6233|0.9107|0.9931|0.8787|0.9162||||||||||0.8172|0.6444|0.9221|0.8985|0.883|0.9948|0.8933|0.8987|0.867|0.8392|0.8986|0.9948|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA||||||||||rs2799072|4294|1||SNV||||||||||||||||||||0.8460|0.6233|0.9107|0.9931|0.8787|0.9162||||||||||0.8172|0.6444|0.9221|0.8985|0.883|0.9948|0.8933|0.8987|0.867|0.8392|0.8986|0.9948|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA||||||||||rs2799072|4341|1||SNV||||||||||||||||||||0.8460|0.6233|0.9107|0.9931|0.8787|0.9162||||||||||0.8172|0.6444|0.9221|0.8985|0.883|0.9948|0.8933|0.8987|0.867|0.8392|0.8986|0.9948|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA||||||||||rs2799072|4307|1||SNV||||||||||||||||||||0.8460|0.6233|0.9107|0.9931|0.8787|0.9162||||||||||0.8172|0.6444|0.9221|0.8985|0.883|0.9948|0.8933|0.8987|0.867|0.8392|0.8986|0.9948|gnomADg_EAS|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA||||||||||rs2799072|4307|1||SNV||||||||||||||||||||0.8460|0.6233|0.9107|0.9931|0.8787|0.9162||||||||||0.8172|0.6444|0.9221|0.8985|0.883|0.9948|0.8933|0.8987|0.867|0.8392|0.8986|0.9948|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,30:0.951:30:0,5:0,10:0,18:0,0,13,17 -chr1 1055426 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|12%2C12;DP=28;ECNT=2;GERMQ=93;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=103;POPAF=7.3;TLOD=85.82;SRC=snv;GRP=s001;CSQ=A|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding|36/36||ENST00000379370.7:c.*445G>A||6636|||||rs2799073||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.8462|0.6241|0.9107|0.9931|0.8787|0.9162||||||||||0.8173|0.6447|0.9221|0.8986|0.8829|0.9948|0.8934|0.8987|0.867|0.8394|0.899|0.9948|gnomADg_EAS|||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA||||||||||rs2799073|4282|1||SNV||||||5||||||||||||||0.8462|0.6241|0.9107|0.9931|0.8787|0.9162||||||||||0.8173|0.6447|0.9221|0.8986|0.8829|0.9948|0.8934|0.8987|0.867|0.8394|0.899|0.9948|gnomADg_EAS|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000242590|Transcript|ENST00000418300|lncRNA||1/1|ENST00000418300.1:n.183+211G>A|||||||rs2799073||1||SNV|||YES|||3||||||||||||||0.8462|0.6241|0.9107|0.9931|0.8787|0.9162||||||||||0.8173|0.6447|0.9221|0.8986|0.8829|0.9948|0.8934|0.8987|0.867|0.8394|0.899|0.9948|gnomADg_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA||||||||||rs2799073|4303|1||SNV||||||1||||||||||||||0.8462|0.6241|0.9107|0.9931|0.8787|0.9162||||||||||0.8173|0.6447|0.9221|0.8986|0.8829|0.9948|0.8934|0.8987|0.867|0.8394|0.899|0.9948|gnomADg_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA||||||||||rs2799073|4267|1||SNV|||YES|||2||||||||||||||0.8462|0.6241|0.9107|0.9931|0.8787|0.9162||||||||||0.8173|0.6447|0.9221|0.8986|0.8829|0.9948|0.8934|0.8987|0.867|0.8394|0.899|0.9948|gnomADg_EAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000461111|retained_intron|3/3||ENST00000461111.1:n.2699G>A||2699|||||rs2799073||1||SNV|HGNC|HGNC:329||||1||||||||1||||||0.8462|0.6241|0.9107|0.9931|0.8787|0.9162||||||||||0.8173|0.6447|0.9221|0.8986|0.8829|0.9948|0.8934|0.8987|0.867|0.8394|0.899|0.9948|gnomADg_EAS|||||||||||||,A|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding|39/39||ENST00000620552.4:c.*445G>A||6702|||||rs2799073||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.8462|0.6241|0.9107|0.9931|0.8787|0.9162||||||||||0.8173|0.6447|0.9221|0.8986|0.8829|0.9948|0.8934|0.8987|0.867|0.8394|0.899|0.9948|gnomADg_EAS|||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding|38/38||ENST00000651234.1:c.*445G>A||6787|||||rs2799073||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.8462|0.6241|0.9107|0.9931|0.8787|0.9162||||||||||0.8173|0.6447|0.9221|0.8986|0.8829|0.9948|0.8934|0.8987|0.867|0.8394|0.899|0.9948|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding|35/35||ENST00000652369.1:c.*445G>A||6718|||||rs2799073||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.8462|0.6241|0.9107|0.9931|0.8787|0.9162||||||||||0.8173|0.6447|0.9221|0.8986|0.8829|0.9948|0.8934|0.8987|0.867|0.8394|0.899|0.9948|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA||||||||||rs2799073|4304|1||SNV||||||||||||||||||||0.8462|0.6241|0.9107|0.9931|0.8787|0.9162||||||||||0.8173|0.6447|0.9221|0.8986|0.8829|0.9948|0.8934|0.8987|0.867|0.8394|0.899|0.9948|gnomADg_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA||||||||||rs2799073|4261|1||SNV||||||||||||||||||||0.8462|0.6241|0.9107|0.9931|0.8787|0.9162||||||||||0.8173|0.6447|0.9221|0.8986|0.8829|0.9948|0.8934|0.8987|0.867|0.8394|0.899|0.9948|gnomADg_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA||||||||||rs2799073|4308|1||SNV||||||||||||||||||||0.8462|0.6241|0.9107|0.9931|0.8787|0.9162||||||||||0.8173|0.6447|0.9221|0.8986|0.8829|0.9948|0.8934|0.8987|0.867|0.8394|0.899|0.9948|gnomADg_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA||||||||||rs2799073|4274|1||SNV||||||||||||||||||||0.8462|0.6241|0.9107|0.9931|0.8787|0.9162||||||||||0.8173|0.6447|0.9221|0.8986|0.8829|0.9948|0.8934|0.8987|0.867|0.8394|0.899|0.9948|gnomADg_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA||||||||||rs2799073|4274|1||SNV||||||||||||||||||||0.8462|0.6241|0.9107|0.9931|0.8787|0.9162||||||||||0.8173|0.6447|0.9221|0.8986|0.8829|0.9948|0.8934|0.8987|0.867|0.8394|0.899|0.9948|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,24:0.943:24:0,2:0,12:0,14:0,0,12,12 -chr1 1055604 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|29%2C32;DP=65;ECNT=1;GERMQ=93;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=73;POPAF=7.3;TLOD=216.66;SRC=snv;GRP=s001;CSQ=A|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding|36/36||ENST00000379370.7:c.*623G>A||6814|||||rs8014||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1||||||0.9223|0.8555|0.9323|0.999|0.8887|0.9611||||||||||0.8838|0.853|0.9221|0.9241|0.911|0.9996|0.8969|0.9082|0.8759|0.8948|0.9464|0.9996|gnomADg_EAS|||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA||||||||||rs8014|4104|1||SNV||||||5||||||||||||||0.9223|0.8555|0.9323|0.999|0.8887|0.9611||||||||||0.8838|0.853|0.9221|0.9241|0.911|0.9996|0.8969|0.9082|0.8759|0.8948|0.9464|0.9996|gnomADg_EAS|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000242590|Transcript|ENST00000418300|lncRNA||1/1|ENST00000418300.1:n.184-294G>A|||||||rs8014||1||SNV|||YES|||3||||||||||||||0.9223|0.8555|0.9323|0.999|0.8887|0.9611||||||||||0.8838|0.853|0.9221|0.9241|0.911|0.9996|0.8969|0.9082|0.8759|0.8948|0.9464|0.9996|gnomADg_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA||||||||||rs8014|4125|1||SNV||||||1||||||||||||||0.9223|0.8555|0.9323|0.999|0.8887|0.9611||||||||||0.8838|0.853|0.9221|0.9241|0.911|0.9996|0.8969|0.9082|0.8759|0.8948|0.9464|0.9996|gnomADg_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA||||||||||rs8014|4089|1||SNV|||YES|||2||||||||||||||0.9223|0.8555|0.9323|0.999|0.8887|0.9611||||||||||0.8838|0.853|0.9221|0.9241|0.911|0.9996|0.8969|0.9082|0.8759|0.8948|0.9464|0.9996|gnomADg_EAS|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000461111|retained_intron|3/3||ENST00000461111.1:n.2877G>A||2877|||||rs8014||1||SNV|HGNC|HGNC:329||||1||||||||1||||||0.9223|0.8555|0.9323|0.999|0.8887|0.9611||||||||||0.8838|0.853|0.9221|0.9241|0.911|0.9996|0.8969|0.9082|0.8759|0.8948|0.9464|0.9996|gnomADg_EAS|||||||||||||,A|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding|39/39||ENST00000620552.4:c.*623G>A||6880|||||rs8014||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1||||||0.9223|0.8555|0.9323|0.999|0.8887|0.9611||||||||||0.8838|0.853|0.9221|0.9241|0.911|0.9996|0.8969|0.9082|0.8759|0.8948|0.9464|0.9996|gnomADg_EAS|||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding|38/38||ENST00000651234.1:c.*623G>A||6965|||||rs8014||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1||||||0.9223|0.8555|0.9323|0.999|0.8887|0.9611||||||||||0.8838|0.853|0.9221|0.9241|0.911|0.9996|0.8969|0.9082|0.8759|0.8948|0.9464|0.9996|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding|35/35||ENST00000652369.1:c.*623G>A||6896|||||rs8014||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1||||||0.9223|0.8555|0.9323|0.999|0.8887|0.9611||||||||||0.8838|0.853|0.9221|0.9241|0.911|0.9996|0.8969|0.9082|0.8759|0.8948|0.9464|0.9996|gnomADg_EAS|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,A|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA||||||||||rs8014|4126|1||SNV||||||||||||||||||||0.9223|0.8555|0.9323|0.999|0.8887|0.9611||||||||||0.8838|0.853|0.9221|0.9241|0.911|0.9996|0.8969|0.9082|0.8759|0.8948|0.9464|0.9996|gnomADg_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA||||||||||rs8014|4083|1||SNV||||||||||||||||||||0.9223|0.8555|0.9323|0.999|0.8887|0.9611||||||||||0.8838|0.853|0.9221|0.9241|0.911|0.9996|0.8969|0.9082|0.8759|0.8948|0.9464|0.9996|gnomADg_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA||||||||||rs8014|4130|1||SNV||||||||||||||||||||0.9223|0.8555|0.9323|0.999|0.8887|0.9611||||||||||0.8838|0.853|0.9221|0.9241|0.911|0.9996|0.8969|0.9082|0.8759|0.8948|0.9464|0.9996|gnomADg_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA||||||||||rs8014|4096|1||SNV||||||||||||||||||||0.9223|0.8555|0.9323|0.999|0.8887|0.9611||||||||||0.8838|0.853|0.9221|0.9241|0.911|0.9996|0.8969|0.9082|0.8759|0.8948|0.9464|0.9996|gnomADg_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA||||||||||rs8014|4096|1||SNV||||||||||||||||||||0.9223|0.8555|0.9323|0.999|0.8887|0.9611||||||||||0.8838|0.853|0.9221|0.9241|0.911|0.9996|0.8969|0.9082|0.8759|0.8948|0.9464|0.9996|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,61:0.974:61:0,3:0,29:0,36:0,0,29,32 -chr1 1055959 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=17%2C27|1%2C1;DP=47;ECNT=1;GERMQ=93;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=32;POPAF=7.3;TLOD=4.51;SRC=snv;GRP=s001;CSQ=T|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000379370|protein_coding|36/36||ENST00000379370.7:c.*978C>T||7169|||||rs1290783816||1||SNV|HGNC|HGNC:329|YES|NM_198576.4||1|P1|CCDS30551.1|ENSP00000368678|O00468.207||UPI00001D7C8B|O00468-6|1|||||||||||||||||||||3.941e-05|0.0001447|0|0|0|0|0|0|0|0|0|0.0001447|gnomADg_AFR|||||||||||MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPVQHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPAPPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA||||||||||rs1290783816|3749|1||SNV||||||5|||||||||||||||||||||||||||||3.941e-05|0.0001447|0|0|0|0|0|0|0|0|0|0.0001447|gnomADg_AFR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000242590|Transcript|ENST00000418300|lncRNA|2/2||ENST00000418300.1:n.245C>T||245|||||rs1290783816||1||SNV|||YES|||3|||||||||||||||||||||||||||||3.941e-05|0.0001447|0|0|0|0|0|0|0|0|0|0.0001447|gnomADg_AFR|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA||||||||||rs1290783816|3770|1||SNV||||||1|||||||||||||||||||||||||||||3.941e-05|0.0001447|0|0|0|0|0|0|0|0|0|0.0001447|gnomADg_AFR|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA||||||||||rs1290783816|3734|1||SNV|||YES|||2|||||||||||||||||||||||||||||3.941e-05|0.0001447|0|0|0|0|0|0|0|0|0|0.0001447|gnomADg_AFR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000461111|retained_intron|3/3||ENST00000461111.1:n.3232C>T||3232|||||rs1290783816||1||SNV|HGNC|HGNC:329||||1||||||||1|||||||||||||||||||||3.941e-05|0.0001447|0|0|0|0|0|0|0|0|0|0.0001447|gnomADg_AFR|||||||||||||,T|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000620552|protein_coding|39/39||ENST00000620552.4:c.*978C>T||7235|||||rs1290783816||1||SNV|HGNC|HGNC:329||||5|||ENSP00000484607||A0A087X208.65|UPI0004E4CB7F||1|||||||||||||||||||||3.941e-05|0.0001447|0|0|0|0|0|0|0|0|0|0.0001447|gnomADg_AFR|||||||||||MRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000651234|protein_coding|38/38||ENST00000651234.1:c.*978C>T||7320|||||rs1290783816||1||SNV|HGNC|HGNC:329|||||||ENSP00000499046||A0A494C1I6.21|UPI000387B6E0||1|||||||||||||||||||||3.941e-05|0.0001447|0|0|0|0|0|0|0|0|0|0.0001447|gnomADg_AFR|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|3_prime_UTR_variant|MODIFIER|AGRN|ENSG00000188157|Transcript|ENST00000652369|protein_coding|35/35||ENST00000652369.1:c.*978C>T||7251|||||rs1290783816||1||SNV|HGNC|HGNC:329|||||||ENSP00000498543||A0A494C0G5.21|UPI0010872C9B||1|||||||||||||||||||||3.941e-05|0.0001447|0|0|0|0|0|0|0|0|0|0.0001447|gnomADg_AFR|||||||||||MPPLPLARDTRQPPGASLLVRGFMVPCNACLILLATATLGFAVLLFLNNYKPGTHFTPVPPTPPDACRGMLCGFGAVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRGPCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLRRACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDDGVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVTCDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCAVKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQCRFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCETCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEARAGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITAARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDGRSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPATCAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPPSSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGGGSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLELEGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSVRAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGATSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPGRRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGRSFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGPAVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPEDQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHGGAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGREGTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYNGQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRVGDGPRVLGESPVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGRQLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGLVEKSAGDVDTLAFDGRTFVEYLNAVTESEKALQSNHFELSLRTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVAHREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCLRDVVVGRHPLHLLEDAVTKPELRPCPTP||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA||||||||||rs1290783816|3771|1||SNV|||||||||||||||||||||||||||||||||||3.941e-05|0.0001447|0|0|0|0|0|0|0|0|0|0.0001447|gnomADg_AFR|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA||||||||||rs1290783816|3728|1||SNV|||||||||||||||||||||||||||||||||||3.941e-05|0.0001447|0|0|0|0|0|0|0|0|0|0.0001447|gnomADg_AFR|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA||||||||||rs1290783816|3775|1||SNV|||||||||||||||||||||||||||||||||||3.941e-05|0.0001447|0|0|0|0|0|0|0|0|0|0.0001447|gnomADg_AFR|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA||||||||||rs1290783816|3741|1||SNV|||||||||||||||||||||||||||||||||||3.941e-05|0.0001447|0|0|0|0|0|0|0|0|0|0.0001447|gnomADg_AFR|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA||||||||||rs1290783816|3741|1||SNV|||||||||||||||||||||||||||||||||||3.941e-05|0.0001447|0|0|0|0|0|0|0|0|0|0.0001447|gnomADg_AFR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:44,2:0.065:46:10,0:17,1:28,1:17,27,1,1 -chr1 1063121 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|3%2C0;DP=5;ECNT=1;GERMQ=37;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=33;POPAF=7.3;TLOD=9.83;SRC=snv;GRP=s001;CSQ=C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA|4/5||ENST00000394517.7:n.333G>C||333|||||rs3813193||1||SNV||||||5||||||||||||||0.2067|0.3396|0.1153|0.1022|0.1829|0.2239||||||||||0.2018|0.2938|0.1527|0.1276|0.1737|0.0826|0.2609|0.1835|0.1637|0.1898|0.2179|0.3396|AFR|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene|1/10||ENST00000412397.2:n.43G>C||43|||||rs3813193||1||SNV|||YES|||||||||||||||||0.2067|0.3396|0.1153|0.1022|0.1829|0.2239||||||||||0.2018|0.2938|0.1527|0.1276|0.1737|0.0826|0.2609|0.1835|0.1637|0.1898|0.2179|0.3396|AFR|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA|3/4||ENST00000427998.6:n.275G>C||275|||||rs3813193||1||SNV||||||1||||||||||||||0.2067|0.3396|0.1153|0.1022|0.1829|0.2239||||||||||0.2018|0.2938|0.1527|0.1276|0.1737|0.0826|0.2609|0.1835|0.1637|0.1898|0.2179|0.3396|AFR|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000433695|lncRNA||||||||||rs3813193|1374|1||SNV||||||2||||||||||||||0.2067|0.3396|0.1153|0.1022|0.1829|0.2239||||||||||0.2018|0.2938|0.1527|0.1276|0.1737|0.0826|0.2609|0.1835|0.1637|0.1898|0.2179|0.3396|AFR|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000273443|Transcript|ENST00000442292|lncRNA|1/2||ENST00000442292.2:n.168C>G||168|||||rs3813193||-1||SNV|||YES|||1||||||||||||||0.2067|0.3396|0.1153|0.1022|0.1829|0.2239||||||||||0.2018|0.2938|0.1527|0.1276|0.1737|0.0826|0.2609|0.1835|0.1637|0.1898|0.2179|0.3396|AFR|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000451054|lncRNA||||||||||rs3813193|1397|1||SNV||||||2||||||||||||||0.2067|0.3396|0.1153|0.1022|0.1829|0.2239||||||||||0.2018|0.2938|0.1527|0.1276|0.1737|0.0826|0.2609|0.1835|0.1637|0.1898|0.2179|0.3396|AFR|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA|3/4||ENST00000456409.6:n.250G>C||250|||||rs3813193||1||SNV|||YES|||2||||||||||||||0.2067|0.3396|0.1153|0.1022|0.1829|0.2239||||||||||0.2018|0.2938|0.1527|0.1276|0.1737|0.0826|0.2609|0.1835|0.1637|0.1898|0.2179|0.3396|AFR|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA||1/1|ENST00000685011.1:n.665-2709G>C|||||||rs3813193||1||SNV||||||||||||||||||||0.2067|0.3396|0.1153|0.1022|0.1829|0.2239||||||||||0.2018|0.2938|0.1527|0.1276|0.1737|0.0826|0.2609|0.1835|0.1637|0.1898|0.2179|0.3396|AFR|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA|3/5||ENST00000688131.1:n.256G>C||256|||||rs3813193||1||SNV||||||||||||||||||||0.2067|0.3396|0.1153|0.1022|0.1829|0.2239||||||||||0.2018|0.2938|0.1527|0.1276|0.1737|0.0826|0.2609|0.1835|0.1637|0.1898|0.2179|0.3396|AFR|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA||2/2|ENST00000692266.1:n.228-2709G>C|||||||rs3813193||1||SNV||||||||||||||||||||0.2067|0.3396|0.1153|0.1022|0.1829|0.2239||||||||||0.2018|0.2938|0.1527|0.1276|0.1737|0.0826|0.2609|0.1835|0.1637|0.1898|0.2179|0.3396|AFR|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA||2/2|ENST00000692821.2:n.201-2709G>C|||||||rs3813193||1||SNV||||||||||||||||||||0.2067|0.3396|0.1153|0.1022|0.1829|0.2239||||||||||0.2018|0.2938|0.1527|0.1276|0.1737|0.0826|0.2609|0.1835|0.1637|0.1898|0.2179|0.3396|AFR|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA||2/2|ENST00000702922.1:n.200+2728G>C|||||||rs3813193||1||SNV||||||||||||||||||||0.2067|0.3396|0.1153|0.1022|0.1829|0.2239||||||||||0.2018|0.2938|0.1527|0.1276|0.1737|0.0826|0.2609|0.1835|0.1637|0.1898|0.2179|0.3396|AFR|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344477|CTCF_binding_site||||||||||rs3813193||||SNV||||||||||||||||||||0.2067|0.3396|0.1153|0.1022|0.1829|0.2239||||||||||0.2018|0.2938|0.1527|0.1276|0.1737|0.0826|0.2609|0.1835|0.1637|0.1898|0.2179|0.3396|AFR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,3:0.667:5:0,0:1,3:1,3:1,1,3,0 -chr1 1065797 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=53%2C37|4%2C2;DP=97;ECNT=1;GERMQ=93;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=69;POPAF=7.3;TLOD=15.3;SRC=snv;GRP=s001;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA||4/4|ENST00000394517.7:n.414-33G>C|||||||rs4970401||1||SNV||||||5||||||||||||||0.7298|0.4932|0.7795|0.9137|0.7425|0.8119||||||||||0.6754|0.4868|0.7484|0.7729|0.8111|0.8961|0.7547|0.742|0.7211|0.6925|0.8024|0.9137|EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene||5/9|ENST00000412397.2:n.626+322G>C|||||||rs4970401||1||SNV|||YES|||||||||||||||||0.7298|0.4932|0.7795|0.9137|0.7425|0.8119||||||||||0.6754|0.4868|0.7484|0.7729|0.8111|0.8961|0.7547|0.742|0.7211|0.6925|0.8024|0.9137|EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA||3/3|ENST00000427998.6:n.356-33G>C|||||||rs4970401||1||SNV||||||1||||||||||||||0.7298|0.4932|0.7795|0.9137|0.7425|0.8119||||||||||0.6754|0.4868|0.7484|0.7729|0.8111|0.8961|0.7547|0.742|0.7211|0.6925|0.8024|0.9137|EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000433695|lncRNA||1/1|ENST00000433695.1:n.96-33G>C|||||||rs4970401||1||SNV||||||2||||||||||||||0.7298|0.4932|0.7795|0.9137|0.7425|0.8119||||||||||0.6754|0.4868|0.7484|0.7729|0.8111|0.8961|0.7547|0.742|0.7211|0.6925|0.8024|0.9137|EAS|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000273443|Transcript|ENST00000442292|lncRNA||||||||||rs4970401|2509|-1||SNV|||YES|||1||||||||||||||0.7298|0.4932|0.7795|0.9137|0.7425|0.8119||||||||||0.6754|0.4868|0.7484|0.7729|0.8111|0.8961|0.7547|0.742|0.7211|0.6925|0.8024|0.9137|EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000451054|lncRNA||1/1|ENST00000451054.1:n.73-152G>C|||||||rs4970401||1||SNV||||||2||||||||||||||0.7298|0.4932|0.7795|0.9137|0.7425|0.8119||||||||||0.6754|0.4868|0.7484|0.7729|0.8111|0.8961|0.7547|0.742|0.7211|0.6925|0.8024|0.9137|EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA||3/3|ENST00000456409.6:n.331-33G>C|||||||rs4970401||1||SNV|||YES|||2||||||||||||||0.7298|0.4932|0.7795|0.9137|0.7425|0.8119||||||||||0.6754|0.4868|0.7484|0.7729|0.8111|0.8961|0.7547|0.742|0.7211|0.6925|0.8024|0.9137|EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA||1/1|ENST00000685011.1:n.665-33G>C|||||||rs4970401||1||SNV||||||||||||||||||||0.7298|0.4932|0.7795|0.9137|0.7425|0.8119||||||||||0.6754|0.4868|0.7484|0.7729|0.8111|0.8961|0.7547|0.742|0.7211|0.6925|0.8024|0.9137|EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA||4/4|ENST00000688131.1:n.533-33G>C|||||||rs4970401||1||SNV||||||||||||||||||||0.7298|0.4932|0.7795|0.9137|0.7425|0.8119||||||||||0.6754|0.4868|0.7484|0.7729|0.8111|0.8961|0.7547|0.742|0.7211|0.6925|0.8024|0.9137|EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA||2/2|ENST00000692266.1:n.228-33G>C|||||||rs4970401||1||SNV||||||||||||||||||||0.7298|0.4932|0.7795|0.9137|0.7425|0.8119||||||||||0.6754|0.4868|0.7484|0.7729|0.8111|0.8961|0.7547|0.742|0.7211|0.6925|0.8024|0.9137|EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA||2/2|ENST00000692821.2:n.201-33G>C|||||||rs4970401||1||SNV||||||||||||||||||||0.7298|0.4932|0.7795|0.9137|0.7425|0.8119||||||||||0.6754|0.4868|0.7484|0.7729|0.8111|0.8961|0.7547|0.742|0.7211|0.6925|0.8024|0.9137|EAS|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA||2/2|ENST00000702922.1:n.201-152G>C|||||||rs4970401||1||SNV||||||||||||||||||||0.7298|0.4932|0.7795|0.9137|0.7425|0.8119||||||||||0.6754|0.4868|0.7484|0.7729|0.8111|0.8961|0.7547|0.742|0.7211|0.6925|0.8024|0.9137|EAS|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000129|promoter||||||||||rs4970401||||SNV||||||||||||||||||||0.7298|0.4932|0.7795|0.9137|0.7425|0.8119||||||||||0.6754|0.4868|0.7484|0.7729|0.8111|0.8961|0.7547|0.742|0.7211|0.6925|0.8024|0.9137|EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:90,6:0.085:96:0,0:51,4:53,4:53,37,4,2 -chr1 1065963 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=15%2C18|1%2C1;DP=37;ECNT=1;GERMQ=93;MBQ=32,32;MFRL=0,0;MMQ=60,60;MPOS=6;POPAF=7.3;TLOD=4.6;SRC=snv;GRP=s001;CSQ=T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA|5/5||ENST00000394517.7:n.547C>T||547|||||rs543482594||1||SNV||||||5|||||||||||||||||||||||||||||0.0002037|0.0002896|0|0|0|0|9.413e-05|0|0.0002499|0.0004776|0|0.0004776|gnomADg_OTH|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene||5/9|ENST00000412397.2:n.626+488C>T|||||||rs543482594||1||SNV|||YES||||||||||||||||||||||||||||||||0.0002037|0.0002896|0|0|0|0|9.413e-05|0|0.0002499|0.0004776|0|0.0004776|gnomADg_OTH|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA|4/4||ENST00000427998.6:n.489C>T||489|||||rs543482594||1||SNV||||||1|||||||||||||||||||||||||||||0.0002037|0.0002896|0|0|0|0|9.413e-05|0|0.0002499|0.0004776|0|0.0004776|gnomADg_OTH|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000433695|lncRNA|2/2||ENST00000433695.1:n.229C>T||229|||||rs543482594||1||SNV||||||2|||||||||||||||||||||||||||||0.0002037|0.0002896|0|0|0|0|9.413e-05|0|0.0002499|0.0004776|0|0.0004776|gnomADg_OTH|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000273443|Transcript|ENST00000442292|lncRNA||||||||||rs543482594|2675|-1||SNV|||YES|||1|||||||||||||||||||||||||||||0.0002037|0.0002896|0|0|0|0|9.413e-05|0|0.0002499|0.0004776|0|0.0004776|gnomADg_OTH|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000451054|lncRNA|2/2||ENST00000451054.1:n.87C>T||87|||||rs543482594||1||SNV||||||2|||||||||||||||||||||||||||||0.0002037|0.0002896|0|0|0|0|9.413e-05|0|0.0002499|0.0004776|0|0.0004776|gnomADg_OTH|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA|4/4||ENST00000456409.6:n.464C>T||464|||||rs543482594||1||SNV|||YES|||2|||||||||||||||||||||||||||||0.0002037|0.0002896|0|0|0|0|9.413e-05|0|0.0002499|0.0004776|0|0.0004776|gnomADg_OTH|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA|2/2||ENST00000685011.1:n.798C>T||798|||||rs543482594||1||SNV|||||||||||||||||||||||||||||||||||0.0002037|0.0002896|0|0|0|0|9.413e-05|0|0.0002499|0.0004776|0|0.0004776|gnomADg_OTH|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA|5/5||ENST00000688131.1:n.666C>T||666|||||rs543482594||1||SNV|||||||||||||||||||||||||||||||||||0.0002037|0.0002896|0|0|0|0|9.413e-05|0|0.0002499|0.0004776|0|0.0004776|gnomADg_OTH|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA|3/3||ENST00000692266.1:n.361C>T||361|||||rs543482594||1||SNV|||||||||||||||||||||||||||||||||||0.0002037|0.0002896|0|0|0|0|9.413e-05|0|0.0002499|0.0004776|0|0.0004776|gnomADg_OTH|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA|3/3||ENST00000692821.2:n.334C>T||334|||||rs543482594||1||SNV|||||||||||||||||||||||||||||||||||0.0002037|0.0002896|0|0|0|0|9.413e-05|0|0.0002499|0.0004776|0|0.0004776|gnomADg_OTH|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA|3/3||ENST00000702922.1:n.215C>T||215|||||rs543482594||1||SNV|||||||||||||||||||||||||||||||||||0.0002037|0.0002896|0|0|0|0|9.413e-05|0|0.0002499|0.0004776|0|0.0004776|gnomADg_OTH||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:33,2:0.079:35:6,0:15,1:22,1:15,18,1,1 -chr1 1066087 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=19%2C15|1%2C1;DP=36;ECNT=4;GERMQ=93;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=102;POPAF=7.3;TLOD=4.74;SRC=snv;GRP=s001;CSQ=T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA|5/5||ENST00000394517.7:n.671C>T||671|||||||1||SNV||||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene||5/9|ENST00000412397.2:n.627-500C>T|||||||||1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA|4/4||ENST00000427998.6:n.613C>T||613|||||||1||SNV||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000433695|lncRNA|2/2||ENST00000433695.1:n.353C>T||353|||||||1||SNV||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000273443|Transcript|ENST00000442292|lncRNA|||||||||||2799|-1||SNV|||YES|||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000451054|lncRNA|2/2||ENST00000451054.1:n.211C>T||211|||||||1||SNV||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding|||||||||||4880|-1||SNV|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF||||||||||||||||||||||||||||||||||||||||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA|4/4||ENST00000456409.6:n.588C>T||588|||||||1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA|2/2||ENST00000685011.1:n.922C>T||922|||||||1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA|5/5||ENST00000688131.1:n.790C>T||790|||||||1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA|3/3||ENST00000692266.1:n.485C>T||485|||||||1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA|3/3||ENST00000692821.2:n.458C>T||458|||||||1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA|3/3||ENST00000702922.1:n.339C>T||339|||||||1||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:34,2:0.083:36:1,0:19,1:21,1:19,15,1,1 -chr1 1066088 . A C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=19%2C15|1%2C1;DP=36;ECNT=4;GERMQ=93;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=96;POPAF=7.3;TLOD=4.41;SRC=snv;GRP=s001;CSQ=C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA|5/5||ENST00000394517.7:n.672A>C||672|||||||1||SNV||||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene||5/9|ENST00000412397.2:n.627-499A>C|||||||||1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA|4/4||ENST00000427998.6:n.614A>C||614|||||||1||SNV||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000433695|lncRNA|2/2||ENST00000433695.1:n.354A>C||354|||||||1||SNV||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000273443|Transcript|ENST00000442292|lncRNA|||||||||||2800|-1||SNV|||YES|||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000451054|lncRNA|2/2||ENST00000451054.1:n.212A>C||212|||||||1||SNV||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding|||||||||||4879|-1||SNV|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF||||||||||||||||||||||||||||||||||||||||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA|4/4||ENST00000456409.6:n.589A>C||589|||||||1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA|2/2||ENST00000685011.1:n.923A>C||923|||||||1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA|5/5||ENST00000688131.1:n.791A>C||791|||||||1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA|3/3||ENST00000692266.1:n.486A>C||486|||||||1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA|3/3||ENST00000692821.2:n.459A>C||459|||||||1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA|3/3||ENST00000702922.1:n.340A>C||340|||||||1||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:34,2:0.083:36:1,0:19,1:21,1:19,15,1,1 -chr1 1066174 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=16%2C18|1%2C1;DP=37;ECNT=4;GERMQ=93;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=25;POPAF=7.3;TLOD=4.89;SRC=snv;GRP=s001;CSQ=T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA|5/5||ENST00000394517.7:n.758C>T||758|||||rs923288222||1||SNV||||||5|||||||||||||||||||||||||||||1.971e-05|4.827e-05|0|0|0|0|0|0|1.47e-05|0|0|4.827e-05|gnomADg_AFR|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene||5/9|ENST00000412397.2:n.627-413C>T|||||||rs923288222||1||SNV|||YES||||||||||||||||||||||||||||||||1.971e-05|4.827e-05|0|0|0|0|0|0|1.47e-05|0|0|4.827e-05|gnomADg_AFR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA|4/4||ENST00000427998.6:n.700C>T||700|||||rs923288222||1||SNV||||||1|||||||||||||||||||||||||||||1.971e-05|4.827e-05|0|0|0|0|0|0|1.47e-05|0|0|4.827e-05|gnomADg_AFR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000433695|lncRNA|2/2||ENST00000433695.1:n.440C>T||440|||||rs923288222||1||SNV||||||2|||||||||||||||||||||||||||||1.971e-05|4.827e-05|0|0|0|0|0|0|1.47e-05|0|0|4.827e-05|gnomADg_AFR|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000273443|Transcript|ENST00000442292|lncRNA||||||||||rs923288222|2886|-1||SNV|||YES|||1|||||||||||||||||||||||||||||1.971e-05|4.827e-05|0|0|0|0|0|0|1.47e-05|0|0|4.827e-05|gnomADg_AFR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000451054|lncRNA|2/2||ENST00000451054.1:n.298C>T||298|||||rs923288222||1||SNV||||||2|||||||||||||||||||||||||||||1.971e-05|4.827e-05|0|0|0|0|0|0|1.47e-05|0|0|4.827e-05|gnomADg_AFR|||||||||||||,T|downstream_gene_variant|MODIFIER|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding||||||||||rs923288222|4793|-1||SNV|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF|||||||||||||||||||||||1.971e-05|4.827e-05|0|0|0|0|0|0|1.47e-05|0|0|4.827e-05|gnomADg_AFR|||||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA|4/4||ENST00000456409.6:n.675C>T||675|||||rs923288222||1||SNV|||YES|||2|||||||||||||||||||||||||||||1.971e-05|4.827e-05|0|0|0|0|0|0|1.47e-05|0|0|4.827e-05|gnomADg_AFR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA|2/2||ENST00000685011.1:n.1009C>T||1009|||||rs923288222||1||SNV|||||||||||||||||||||||||||||||||||1.971e-05|4.827e-05|0|0|0|0|0|0|1.47e-05|0|0|4.827e-05|gnomADg_AFR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA|5/5||ENST00000688131.1:n.877C>T||877|||||rs923288222||1||SNV|||||||||||||||||||||||||||||||||||1.971e-05|4.827e-05|0|0|0|0|0|0|1.47e-05|0|0|4.827e-05|gnomADg_AFR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA|3/3||ENST00000692266.1:n.572C>T||572|||||rs923288222||1||SNV|||||||||||||||||||||||||||||||||||1.971e-05|4.827e-05|0|0|0|0|0|0|1.47e-05|0|0|4.827e-05|gnomADg_AFR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA|3/3||ENST00000692821.2:n.545C>T||545|||||rs923288222||1||SNV|||||||||||||||||||||||||||||||||||1.971e-05|4.827e-05|0|0|0|0|0|0|1.47e-05|0|0|4.827e-05|gnomADg_AFR|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA|3/3||ENST00000702922.1:n.426C>T||426|||||rs923288222||1||SNV|||||||||||||||||||||||||||||||||||1.971e-05|4.827e-05|0|0|0|0|0|0|1.47e-05|0|0|4.827e-05|gnomADg_AFR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:34,2:0.087:36:0,0:16,1:20,1:16,18,1,1 -chr1 1066230 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=16%2C20|1%2C1;DP=38;ECNT=4;GERMQ=93;MBQ=33,30;MFRL=0,0;MMQ=60,56;MPOS=62;POPAF=7.3;TLOD=4.25;SRC=snv;GRP=s001;CSQ=C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA|5/5||ENST00000394517.7:n.814T>C||814|||||||1||SNV||||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene||5/9|ENST00000412397.2:n.627-357T>C|||||||||1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA|4/4||ENST00000427998.6:n.756T>C||756|||||||1||SNV||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000433695|lncRNA|2/2||ENST00000433695.1:n.496T>C||496|||||||1||SNV||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000273443|Transcript|ENST00000442292|lncRNA|||||||||||2942|-1||SNV|||YES|||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000451054|lncRNA|2/2||ENST00000451054.1:n.354T>C||354|||||||1||SNV||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding|||||||||||4737|-1||SNV|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF||||||||||||||||||||||||||||||||||||||||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA|4/4||ENST00000456409.6:n.731T>C||731|||||||1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA|2/2||ENST00000685011.1:n.1065T>C||1065|||||||1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA|5/5||ENST00000688131.1:n.933T>C||933|||||||1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA|3/3||ENST00000692266.1:n.628T>C||628|||||||1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA|3/3||ENST00000692821.2:n.601T>C||601|||||||1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA|3/3||ENST00000702922.1:n.482T>C||482|||||||1||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:36,2:0.083:38:0,0:16,1:21,1:16,20,1,1 -chr1 1066726 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5%2C6|1%2C1;DP=13;ECNT=1;GERMQ=51;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=76;POPAF=7.3;TLOD=5.71;SRC=snv;GRP=s001;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA||||||||||rs532287544|267|1||SNV||||||5||||||||||||||0.0002|0|0|0|0|0.001||||||||||6.571e-05|2.413e-05|0|0|0|0.0001926|0|0|1.47e-05|0|0.00145|0.00145|gnomADg_SAS|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene||6/9|ENST00000412397.2:n.707+59G>A|||||||rs532287544||1||SNV|||YES|||||||||||||||||0.0002|0|0|0|0|0.001||||||||||6.571e-05|2.413e-05|0|0|0|0.0001926|0|0|1.47e-05|0|0.00145|0.00145|gnomADg_SAS|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA||||||||||rs532287544|270|1||SNV||||||1||||||||||||||0.0002|0|0|0|0|0.001||||||||||6.571e-05|2.413e-05|0|0|0|0.0001926|0|0|1.47e-05|0|0.00145|0.00145|gnomADg_SAS|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000433695|lncRNA||||||||||rs532287544|452|1||SNV||||||2||||||||||||||0.0002|0|0|0|0|0.001||||||||||6.571e-05|2.413e-05|0|0|0|0.0001926|0|0|1.47e-05|0|0.00145|0.00145|gnomADg_SAS|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000273443|Transcript|ENST00000442292|lncRNA||||||||||rs532287544|3438|-1||SNV|||YES|||1||||||||||||||0.0002|0|0|0|0|0.001||||||||||6.571e-05|2.413e-05|0|0|0|0.0001926|0|0|1.47e-05|0|0.00145|0.00145|gnomADg_SAS|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000451054|lncRNA||||||||||rs532287544|285|1||SNV||||||2||||||||||||||0.0002|0|0|0|0|0.001||||||||||6.571e-05|2.413e-05|0|0|0|0.0001926|0|0|1.47e-05|0|0.00145|0.00145|gnomADg_SAS|||||||||||||,A|downstream_gene_variant|MODIFIER|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding||||||||||rs532287544|4241|-1||SNV|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF||||||||0.0002|0|0|0|0|0.001||||||||||6.571e-05|2.413e-05|0|0|0|0.0001926|0|0|1.47e-05|0|0.00145|0.00145|gnomADg_SAS|||||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN||,A|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA||||||||||rs532287544|270|1||SNV|||YES|||2||||||||||||||0.0002|0|0|0|0|0.001||||||||||6.571e-05|2.413e-05|0|0|0|0.0001926|0|0|1.47e-05|0|0.00145|0.00145|gnomADg_SAS|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA||||||||||rs532287544|273|1||SNV||||||||||||||||||||0.0002|0|0|0|0|0.001||||||||||6.571e-05|2.413e-05|0|0|0|0.0001926|0|0|1.47e-05|0|0.00145|0.00145|gnomADg_SAS|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA||||||||||rs532287544|277|1||SNV||||||||||||||||||||0.0002|0|0|0|0|0.001||||||||||6.571e-05|2.413e-05|0|0|0|0.0001926|0|0|1.47e-05|0|0.00145|0.00145|gnomADg_SAS|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA||||||||||rs532287544|285|1||SNV||||||||||||||||||||0.0002|0|0|0|0|0.001||||||||||6.571e-05|2.413e-05|0|0|0|0.0001926|0|0|1.47e-05|0|0.00145|0.00145|gnomADg_SAS|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA||||||||||rs532287544|275|1||SNV||||||||||||||||||||0.0002|0|0|0|0|0.001||||||||||6.571e-05|2.413e-05|0|0|0|0.0001926|0|0|1.47e-05|0|0.00145|0.00145|gnomADg_SAS|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA||||||||||rs532287544|344|1||SNV||||||||||||||||||||0.0002|0|0|0|0|0.001||||||||||6.571e-05|2.413e-05|0|0|0|0.0001926|0|0|1.47e-05|0|0.00145|0.00145|gnomADg_SAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:11,2:0.222:13:1,0:5,1:6,1:5,6,1,1 -chr1 1067007 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=15%2C16|2%2C2;DP=36;ECNT=3;GERMQ=85;MBQ=32,31;MFRL=0,0;MMQ=60,60;MPOS=14;POPAF=7.3;TLOD=10.87;SRC=snv;GRP=s001;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA||||||||||rs74048003|548|1||SNV||||||5||||||||||||||0.2446|0.3835|0.1686|0.1141|0.2475|0.2423||||||||||0.2559|0.3209|0.2643|0.1838|0.2666|0.1084|0.3039|0.2563|0.2368|0.2418|0.245|0.3835|AFR|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene||6/9|ENST00000412397.2:n.707+340A>G|||||||rs74048003||1||SNV|||YES|||||||||||||||||0.2446|0.3835|0.1686|0.1141|0.2475|0.2423||||||||||0.2559|0.3209|0.2643|0.1838|0.2666|0.1084|0.3039|0.2563|0.2368|0.2418|0.245|0.3835|AFR|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA||||||||||rs74048003|551|1||SNV||||||1||||||||||||||0.2446|0.3835|0.1686|0.1141|0.2475|0.2423||||||||||0.2559|0.3209|0.2643|0.1838|0.2666|0.1084|0.3039|0.2563|0.2368|0.2418|0.245|0.3835|AFR|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000433695|lncRNA||||||||||rs74048003|733|1||SNV||||||2||||||||||||||0.2446|0.3835|0.1686|0.1141|0.2475|0.2423||||||||||0.2559|0.3209|0.2643|0.1838|0.2666|0.1084|0.3039|0.2563|0.2368|0.2418|0.245|0.3835|AFR|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000273443|Transcript|ENST00000442292|lncRNA||||||||||rs74048003|3719|-1||SNV|||YES|||1||||||||||||||0.2446|0.3835|0.1686|0.1141|0.2475|0.2423||||||||||0.2559|0.3209|0.2643|0.1838|0.2666|0.1084|0.3039|0.2563|0.2368|0.2418|0.245|0.3835|AFR|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000451054|lncRNA||||||||||rs74048003|566|1||SNV||||||2||||||||||||||0.2446|0.3835|0.1686|0.1141|0.2475|0.2423||||||||||0.2559|0.3209|0.2643|0.1838|0.2666|0.1084|0.3039|0.2563|0.2368|0.2418|0.245|0.3835|AFR|||||||||||||,G|downstream_gene_variant|MODIFIER|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding||||||||||rs74048003|3960|-1||SNV|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF||||||||0.2446|0.3835|0.1686|0.1141|0.2475|0.2423||||||||||0.2559|0.3209|0.2643|0.1838|0.2666|0.1084|0.3039|0.2563|0.2368|0.2418|0.245|0.3835|AFR|||||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN||,G|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA||||||||||rs74048003|551|1||SNV|||YES|||2||||||||||||||0.2446|0.3835|0.1686|0.1141|0.2475|0.2423||||||||||0.2559|0.3209|0.2643|0.1838|0.2666|0.1084|0.3039|0.2563|0.2368|0.2418|0.245|0.3835|AFR|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA||||||||||rs74048003|554|1||SNV||||||||||||||||||||0.2446|0.3835|0.1686|0.1141|0.2475|0.2423||||||||||0.2559|0.3209|0.2643|0.1838|0.2666|0.1084|0.3039|0.2563|0.2368|0.2418|0.245|0.3835|AFR|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA||||||||||rs74048003|558|1||SNV||||||||||||||||||||0.2446|0.3835|0.1686|0.1141|0.2475|0.2423||||||||||0.2559|0.3209|0.2643|0.1838|0.2666|0.1084|0.3039|0.2563|0.2368|0.2418|0.245|0.3835|AFR|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA||||||||||rs74048003|566|1||SNV||||||||||||||||||||0.2446|0.3835|0.1686|0.1141|0.2475|0.2423||||||||||0.2559|0.3209|0.2643|0.1838|0.2666|0.1084|0.3039|0.2563|0.2368|0.2418|0.245|0.3835|AFR|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA||||||||||rs74048003|556|1||SNV||||||||||||||||||||0.2446|0.3835|0.1686|0.1141|0.2475|0.2423||||||||||0.2559|0.3209|0.2643|0.1838|0.2666|0.1084|0.3039|0.2563|0.2368|0.2418|0.245|0.3835|AFR|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA||||||||||rs74048003|625|1||SNV||||||||||||||||||||0.2446|0.3835|0.1686|0.1141|0.2475|0.2423||||||||||0.2559|0.3209|0.2643|0.1838|0.2666|0.1084|0.3039|0.2563|0.2368|0.2418|0.245|0.3835|AFR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:31,4:0.143:35:1,0:14,2:17,2:15,16,2,2 -chr1 1067159 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=11%2C9|2%2C1;DP=24;ECNT=3;GERMQ=65;MBQ=34,32;MFRL=0,0;MMQ=60,60;MPOS=79;POPAF=7.3;TLOD=7.99;SRC=snv;GRP=s001;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA||||||||||rs60442576|700|1||SNV||||||5||||||||||||||0.3431|0.7247|0.2003|0.121|0.2505|0.2526||||||||||0.3543|0.6599|0.2643|0.2197|0.2801|0.1127|0.304|0.288|0.2378|0.3252|0.2597|0.7247|AFR|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene||6/9|ENST00000412397.2:n.708-407G>A|||||||rs60442576||1||SNV|||YES|||||||||||||||||0.3431|0.7247|0.2003|0.121|0.2505|0.2526||||||||||0.3543|0.6599|0.2643|0.2197|0.2801|0.1127|0.304|0.288|0.2378|0.3252|0.2597|0.7247|AFR|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA||||||||||rs60442576|703|1||SNV||||||1||||||||||||||0.3431|0.7247|0.2003|0.121|0.2505|0.2526||||||||||0.3543|0.6599|0.2643|0.2197|0.2801|0.1127|0.304|0.288|0.2378|0.3252|0.2597|0.7247|AFR|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000433695|lncRNA||||||||||rs60442576|885|1||SNV||||||2||||||||||||||0.3431|0.7247|0.2003|0.121|0.2505|0.2526||||||||||0.3543|0.6599|0.2643|0.2197|0.2801|0.1127|0.304|0.288|0.2378|0.3252|0.2597|0.7247|AFR|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000273443|Transcript|ENST00000442292|lncRNA||||||||||rs60442576|3871|-1||SNV|||YES|||1||||||||||||||0.3431|0.7247|0.2003|0.121|0.2505|0.2526||||||||||0.3543|0.6599|0.2643|0.2197|0.2801|0.1127|0.304|0.288|0.2378|0.3252|0.2597|0.7247|AFR|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000451054|lncRNA||||||||||rs60442576|718|1||SNV||||||2||||||||||||||0.3431|0.7247|0.2003|0.121|0.2505|0.2526||||||||||0.3543|0.6599|0.2643|0.2197|0.2801|0.1127|0.304|0.288|0.2378|0.3252|0.2597|0.7247|AFR|||||||||||||,A|downstream_gene_variant|MODIFIER|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding||||||||||rs60442576|3808|-1||SNV|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF||||||||0.3431|0.7247|0.2003|0.121|0.2505|0.2526||||||||||0.3543|0.6599|0.2643|0.2197|0.2801|0.1127|0.304|0.288|0.2378|0.3252|0.2597|0.7247|AFR|||||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN||,A|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA||||||||||rs60442576|703|1||SNV|||YES|||2||||||||||||||0.3431|0.7247|0.2003|0.121|0.2505|0.2526||||||||||0.3543|0.6599|0.2643|0.2197|0.2801|0.1127|0.304|0.288|0.2378|0.3252|0.2597|0.7247|AFR|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA||||||||||rs60442576|706|1||SNV||||||||||||||||||||0.3431|0.7247|0.2003|0.121|0.2505|0.2526||||||||||0.3543|0.6599|0.2643|0.2197|0.2801|0.1127|0.304|0.288|0.2378|0.3252|0.2597|0.7247|AFR|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA||||||||||rs60442576|710|1||SNV||||||||||||||||||||0.3431|0.7247|0.2003|0.121|0.2505|0.2526||||||||||0.3543|0.6599|0.2643|0.2197|0.2801|0.1127|0.304|0.288|0.2378|0.3252|0.2597|0.7247|AFR|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA||||||||||rs60442576|718|1||SNV||||||||||||||||||||0.3431|0.7247|0.2003|0.121|0.2505|0.2526||||||||||0.3543|0.6599|0.2643|0.2197|0.2801|0.1127|0.304|0.288|0.2378|0.3252|0.2597|0.7247|AFR|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA||||||||||rs60442576|708|1||SNV||||||||||||||||||||0.3431|0.7247|0.2003|0.121|0.2505|0.2526||||||||||0.3543|0.6599|0.2643|0.2197|0.2801|0.1127|0.304|0.288|0.2378|0.3252|0.2597|0.7247|AFR|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA||||||||||rs60442576|777|1||SNV||||||||||||||||||||0.3431|0.7247|0.2003|0.121|0.2505|0.2526||||||||||0.3543|0.6599|0.2643|0.2197|0.2801|0.1127|0.304|0.288|0.2378|0.3252|0.2597|0.7247|AFR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:20,3:0.2:23:0,0:11,2:11,2:11,9,2,1 -chr1 1067173 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=10%2C10|1%2C1;DP=23;ECNT=3;GERMQ=71;MBQ=32,34;MFRL=0,0;MMQ=60,60;MPOS=37;POPAF=7.3;TLOD=5.39;SRC=snv;GRP=s001;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA|||||||||||714|1||SNV||||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene||6/9|ENST00000412397.2:n.708-393T>C|||||||||1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA|||||||||||717|1||SNV||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000433695|lncRNA|||||||||||899|1||SNV||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000273443|Transcript|ENST00000442292|lncRNA|||||||||||3885|-1||SNV|||YES|||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000451054|lncRNA|||||||||||732|1||SNV||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding|||||||||||3794|-1||SNV|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF||||||||||||||||||||||||||||||||||||||||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA|||||||||||717|1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA|||||||||||720|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA|||||||||||724|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA|||||||||||732|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA|||||||||||722|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA|||||||||||791|1||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:20,2:0.133:22:0,0:9,1:12,1:10,10,1,1 -chr1 1068165 . G T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=4%2C3|1%2C1;DP=9;ECNT=3;GERMQ=43;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=94;POPAF=7.3;TLOD=5.83;SRC=snv;GRP=s001;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA|||||||||||1706|1||SNV||||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene||8/9|ENST00000412397.2:n.923+162G>T|||||||||1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA|||||||||||1709|1||SNV||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000433695|lncRNA|||||||||||1891|1||SNV||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000273443|Transcript|ENST00000442292|lncRNA|||||||||||4877|-1||SNV|||YES|||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000451054|lncRNA|||||||||||1724|1||SNV||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding|||||||||||2802|-1||SNV|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF||||||||||||||||||||||||||||||||||||||||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA|||||||||||1709|1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA|||||||||||1712|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA|||||||||||1716|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA|||||||||||1724|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA|||||||||||1714|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA|||||||||||1783|1||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,2:0.25:9:1,0:4,1:5,1:4,3,1,1 -chr1 1068198 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=7%2C8|1%2C1;DP=18;ECNT=3;GERMQ=59;MBQ=33,31;MFRL=0,0;MMQ=60,60;MPOS=98;POPAF=7.3;TLOD=5.18;SRC=snv;GRP=s001;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA||||||||||rs1645604641|1739|1||SNV||||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene||8/9|ENST00000412397.2:n.923+195T>C|||||||rs1645604641||1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA||||||||||rs1645604641|1742|1||SNV||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000433695|lncRNA||||||||||rs1645604641|1924|1||SNV||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000273443|Transcript|ENST00000442292|lncRNA||||||||||rs1645604641|4910|-1||SNV|||YES|||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000451054|lncRNA||||||||||rs1645604641|1757|1||SNV||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding||||||||||rs1645604641|2769|-1||SNV|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF||||||||||||||||||||||||||||||||||||||||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA||||||||||rs1645604641|1742|1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA||||||||||rs1645604641|1745|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA||||||||||rs1645604641|1749|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA||||||||||rs1645604641|1757|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA||||||||||rs1645604641|1747|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA||||||||||rs1645604641|1816|1||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:15,2:0.179:17:1,0:7,1:8,1:7,8,1,1 -chr1 1068249 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=7%2C7|2%2C2;DP=18;ECNT=3;GERMQ=48;MBQ=34,32;MFRL=0,0;MMQ=60,60;MPOS=55;POPAF=7.3;TLOD=12.05;SRC=snv;GRP=s001;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA||||||||||rs4075116|1790|1||SNV||||||5||||||||||||||0.7206|0.4622|0.7695|0.9157|0.7425|0.8119||||||||||0.6653|0.4519|0.7473|0.7688|0.8127|0.8983|0.755|0.7342|0.7208|0.6861|0.8039|0.9157|EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene||8/9|ENST00000412397.2:n.923+246C>T|||||||rs4075116||1||SNV|||YES|||||||||||||||||0.7206|0.4622|0.7695|0.9157|0.7425|0.8119||||||||||0.6653|0.4519|0.7473|0.7688|0.8127|0.8983|0.755|0.7342|0.7208|0.6861|0.8039|0.9157|EAS|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA||||||||||rs4075116|1793|1||SNV||||||1||||||||||||||0.7206|0.4622|0.7695|0.9157|0.7425|0.8119||||||||||0.6653|0.4519|0.7473|0.7688|0.8127|0.8983|0.755|0.7342|0.7208|0.6861|0.8039|0.9157|EAS|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000433695|lncRNA||||||||||rs4075116|1975|1||SNV||||||2||||||||||||||0.7206|0.4622|0.7695|0.9157|0.7425|0.8119||||||||||0.6653|0.4519|0.7473|0.7688|0.8127|0.8983|0.755|0.7342|0.7208|0.6861|0.8039|0.9157|EAS|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000273443|Transcript|ENST00000442292|lncRNA||||||||||rs4075116|4961|-1||SNV|||YES|||1||||||||||||||0.7206|0.4622|0.7695|0.9157|0.7425|0.8119||||||||||0.6653|0.4519|0.7473|0.7688|0.8127|0.8983|0.755|0.7342|0.7208|0.6861|0.8039|0.9157|EAS|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000451054|lncRNA||||||||||rs4075116|1808|1||SNV||||||2||||||||||||||0.7206|0.4622|0.7695|0.9157|0.7425|0.8119||||||||||0.6653|0.4519|0.7473|0.7688|0.8127|0.8983|0.755|0.7342|0.7208|0.6861|0.8039|0.9157|EAS|||||||||||||,T|downstream_gene_variant|MODIFIER|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding||||||||||rs4075116|2718|-1||SNV|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF||||||||0.7206|0.4622|0.7695|0.9157|0.7425|0.8119||||||||||0.6653|0.4519|0.7473|0.7688|0.8127|0.8983|0.755|0.7342|0.7208|0.6861|0.8039|0.9157|EAS|||||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA||||||||||rs4075116|1793|1||SNV|||YES|||2||||||||||||||0.7206|0.4622|0.7695|0.9157|0.7425|0.8119||||||||||0.6653|0.4519|0.7473|0.7688|0.8127|0.8983|0.755|0.7342|0.7208|0.6861|0.8039|0.9157|EAS|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA||||||||||rs4075116|1796|1||SNV||||||||||||||||||||0.7206|0.4622|0.7695|0.9157|0.7425|0.8119||||||||||0.6653|0.4519|0.7473|0.7688|0.8127|0.8983|0.755|0.7342|0.7208|0.6861|0.8039|0.9157|EAS|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA||||||||||rs4075116|1800|1||SNV||||||||||||||||||||0.7206|0.4622|0.7695|0.9157|0.7425|0.8119||||||||||0.6653|0.4519|0.7473|0.7688|0.8127|0.8983|0.755|0.7342|0.7208|0.6861|0.8039|0.9157|EAS|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA||||||||||rs4075116|1808|1||SNV||||||||||||||||||||0.7206|0.4622|0.7695|0.9157|0.7425|0.8119||||||||||0.6653|0.4519|0.7473|0.7688|0.8127|0.8983|0.755|0.7342|0.7208|0.6861|0.8039|0.9157|EAS|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA||||||||||rs4075116|1798|1||SNV||||||||||||||||||||0.7206|0.4622|0.7695|0.9157|0.7425|0.8119||||||||||0.6653|0.4519|0.7473|0.7688|0.8127|0.8983|0.755|0.7342|0.7208|0.6861|0.8039|0.9157|EAS|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA||||||||||rs4075116|1867|1||SNV||||||||||||||||||||0.7206|0.4622|0.7695|0.9157|0.7425|0.8119||||||||||0.6653|0.4519|0.7473|0.7688|0.8127|0.8983|0.755|0.7342|0.7208|0.6861|0.8039|0.9157|EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:14,4:0.273:18:0,0:7,2:7,2:7,7,2,2 -chr1 1068591 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=28%2C29|2%2C2;DP=63;ECNT=5;GERMQ=93;MBQ=32,35;MFRL=0,0;MMQ=60,60;MPOS=114;POPAF=7.3;TLOD=11.26;SRC=snv;GRP=s001;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA|||||||||||2132|1||SNV||||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene|9/10||ENST00000412397.2:n.938T>C||938|||||||1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA|||||||||||2135|1||SNV||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000433695|lncRNA|||||||||||2317|1||SNV||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000451054|lncRNA|||||||||||2150|1||SNV||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding|||||||||||2376|-1||SNV|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF||||||||||||||||||||||||||||||||||||||||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA|||||||||||2135|1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA|||||||||||2138|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA|||||||||||2142|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA|||||||||||2150|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA|||||||||||2140|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA|||||||||||2209|1||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:57,4:0.075:61:8,0:27,2:36,2:28,29,2,2 -chr1 1068604 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=30%2C33|1%2C1;DP=67;ECNT=5;GERMQ=93;MBQ=32,34;MFRL=0,0;MMQ=60,53;MPOS=86;POPAF=7.3;TLOD=4.47;SRC=snv;GRP=s001;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA|||||||||||2145|1||SNV||||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene|9/10||ENST00000412397.2:n.951T>C||951|||||||1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA|||||||||||2148|1||SNV||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000433695|lncRNA|||||||||||2330|1||SNV||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000451054|lncRNA|||||||||||2163|1||SNV||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding|||||||||||2363|-1||SNV|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF||||||||||||||||||||||||||||||||||||||||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA|||||||||||2148|1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA|||||||||||2151|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA|||||||||||2155|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA|||||||||||2163|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA|||||||||||2153|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA|||||||||||2222|1||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:63,2:0.049:65:7,0:30,1:37,1:30,33,1,1 -chr1 1068628 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=28%2C36|1%2C2;DP=69;ECNT=5;GERMQ=93;MBQ=33,32;MFRL=0,0;MMQ=60,59;MPOS=116;POPAF=7.3;TLOD=6.45;SRC=snv;GRP=s001;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA||||||||||rs1645607594|2169|1||SNV||||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene|9/10||ENST00000412397.2:n.975T>C||975|||||rs1645607594||1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA||||||||||rs1645607594|2172|1||SNV||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000433695|lncRNA||||||||||rs1645607594|2354|1||SNV||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000451054|lncRNA||||||||||rs1645607594|2187|1||SNV||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding||||||||||rs1645607594|2339|-1||SNV|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF||||||||||||||||||||||||||||||||||||||||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA||||||||||rs1645607594|2172|1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA||||||||||rs1645607594|2175|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA||||||||||rs1645607594|2179|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA||||||||||rs1645607594|2187|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA||||||||||rs1645607594|2177|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA||||||||||rs1645607594|2246|1||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:64,3:0.073:67:4,0:27,1:37,2:28,36,1,2 -chr1 1068664 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=26%2C35|3%2C4;DP=68;ECNT=5;GERMQ=93;MBQ=32,33;MFRL=0,0;MMQ=60,59;MPOS=50;POPAF=7.3;TLOD=20.02;SRC=snv;GRP=s001;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA|||||||||||2205|1||SNV||||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene|9/10||ENST00000412397.2:n.1011T>C||1011|||||||1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA|||||||||||2208|1||SNV||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000433695|lncRNA|||||||||||2390|1||SNV||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000451054|lncRNA|||||||||||2223|1||SNV||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding|||||||||||2303|-1||SNV|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF||||||||||||||||||||||||||||||||||||||||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA|||||||||||2208|1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA|||||||||||2211|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA|||||||||||2215|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA|||||||||||2223|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA|||||||||||2213|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA|||||||||||2282|1||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:61,7:0.122:68:4,0:25,3:35,4:26,35,3,4 -chr1 1068727 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=4%2C15|1%2C2;DP=25;ECNT=5;GERMQ=63;MBQ=32,34;MFRL=0,0;MMQ=60,59;MPOS=17;POPAF=7.3;TLOD=8.12;SRC=snv;GRP=s001;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA|||||||||||2268|1||SNV||||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|splice_donor_region_variant&intron_variant&non_coding_transcript_variant|LOW||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene||9/9|ENST00000412397.2:n.1071+3T>C|||||||||1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA|||||||||||2271|1||SNV||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000433695|lncRNA|||||||||||2453|1||SNV||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000451054|lncRNA|||||||||||2286|1||SNV||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding|||||||||||2240|-1||SNV|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF||||||||||||||||||||||||||||||||||||||||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA|||||||||||2271|1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA|||||||||||2274|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA|||||||||||2278|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA|||||||||||2286|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA|||||||||||2276|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA|||||||||||2345|1||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:19,3:0.156:22:0,0:4,1:15,2:4,15,1,2 -chr1 1068905 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=11%2C11|1%2C1;DP=26;ECNT=2;GERMQ=76;MBQ=35,31;MFRL=0,0;MMQ=60,60;MPOS=107;POPAF=7.3;TLOD=4.95;SRC=snv;GRP=s001;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA||||||||||rs1344983090|2446|1||SNV||||||5|||||||||||||||||||||||||||||6.59e-06|0|0|0|0|0|0|0|1.474e-05|0|0|1.474e-05|gnomADg_NFE|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene||9/9|ENST00000412397.2:n.1071+181C>T|||||||rs1344983090||1||SNV|||YES||||||||||||||||||||||||||||||||6.59e-06|0|0|0|0|0|0|0|1.474e-05|0|0|1.474e-05|gnomADg_NFE|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA||||||||||rs1344983090|2449|1||SNV||||||1|||||||||||||||||||||||||||||6.59e-06|0|0|0|0|0|0|0|1.474e-05|0|0|1.474e-05|gnomADg_NFE|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000433695|lncRNA||||||||||rs1344983090|2631|1||SNV||||||2|||||||||||||||||||||||||||||6.59e-06|0|0|0|0|0|0|0|1.474e-05|0|0|1.474e-05|gnomADg_NFE|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000451054|lncRNA||||||||||rs1344983090|2464|1||SNV||||||2|||||||||||||||||||||||||||||6.59e-06|0|0|0|0|0|0|0|1.474e-05|0|0|1.474e-05|gnomADg_NFE|||||||||||||,T|downstream_gene_variant|MODIFIER|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding||||||||||rs1344983090|2062|-1||SNV|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF|||||||||||||||||||||||6.59e-06|0|0|0|0|0|0|0|1.474e-05|0|0|1.474e-05|gnomADg_NFE|||||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA||||||||||rs1344983090|2449|1||SNV|||YES|||2|||||||||||||||||||||||||||||6.59e-06|0|0|0|0|0|0|0|1.474e-05|0|0|1.474e-05|gnomADg_NFE|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA||||||||||rs1344983090|2452|1||SNV|||||||||||||||||||||||||||||||||||6.59e-06|0|0|0|0|0|0|0|1.474e-05|0|0|1.474e-05|gnomADg_NFE|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA||||||||||rs1344983090|2456|1||SNV|||||||||||||||||||||||||||||||||||6.59e-06|0|0|0|0|0|0|0|1.474e-05|0|0|1.474e-05|gnomADg_NFE|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA||||||||||rs1344983090|2464|1||SNV|||||||||||||||||||||||||||||||||||6.59e-06|0|0|0|0|0|0|0|1.474e-05|0|0|1.474e-05|gnomADg_NFE|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA||||||||||rs1344983090|2454|1||SNV|||||||||||||||||||||||||||||||||||6.59e-06|0|0|0|0|0|0|0|1.474e-05|0|0|1.474e-05|gnomADg_NFE|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA||||||||||rs1344983090|2523|1||SNV|||||||||||||||||||||||||||||||||||6.59e-06|0|0|0|0|0|0|0|1.474e-05|0|0|1.474e-05|gnomADg_NFE||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:22,2:0.141:24:0,0:9,1:11,1:11,11,1,1 -chr1 1068951 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|5%2C7;DP=12;ECNT=2;GERMQ=75;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=61;POPAF=7.3;TLOD=41.4;SRC=snv;GRP=s001;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA||||||||||rs113592356|2492|1||SNV||||||5||||||||||||||0.0210|0.0008|0.0202|0.0119|0.0497|0.0286||||||||||0.03403|0.007754|0.07346|0.02868|0.0366|0.01024|0.0428|0.05449|0.05129|0.02826|0.03177|0.07346|gnomADg_AMI|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene||9/9|ENST00000412397.2:n.1071+227C>T|||||||rs113592356||1||SNV|||YES|||||||||||||||||0.0210|0.0008|0.0202|0.0119|0.0497|0.0286||||||||||0.03403|0.007754|0.07346|0.02868|0.0366|0.01024|0.0428|0.05449|0.05129|0.02826|0.03177|0.07346|gnomADg_AMI|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA||||||||||rs113592356|2495|1||SNV||||||1||||||||||||||0.0210|0.0008|0.0202|0.0119|0.0497|0.0286||||||||||0.03403|0.007754|0.07346|0.02868|0.0366|0.01024|0.0428|0.05449|0.05129|0.02826|0.03177|0.07346|gnomADg_AMI|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000433695|lncRNA||||||||||rs113592356|2677|1||SNV||||||2||||||||||||||0.0210|0.0008|0.0202|0.0119|0.0497|0.0286||||||||||0.03403|0.007754|0.07346|0.02868|0.0366|0.01024|0.0428|0.05449|0.05129|0.02826|0.03177|0.07346|gnomADg_AMI|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000451054|lncRNA||||||||||rs113592356|2510|1||SNV||||||2||||||||||||||0.0210|0.0008|0.0202|0.0119|0.0497|0.0286||||||||||0.03403|0.007754|0.07346|0.02868|0.0366|0.01024|0.0428|0.05449|0.05129|0.02826|0.03177|0.07346|gnomADg_AMI|||||||||||||,T|downstream_gene_variant|MODIFIER|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding||||||||||rs113592356|2016|-1||SNV|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF||||||||0.0210|0.0008|0.0202|0.0119|0.0497|0.0286||||||||||0.03403|0.007754|0.07346|0.02868|0.0366|0.01024|0.0428|0.05449|0.05129|0.02826|0.03177|0.07346|gnomADg_AMI|||||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA||||||||||rs113592356|2495|1||SNV|||YES|||2||||||||||||||0.0210|0.0008|0.0202|0.0119|0.0497|0.0286||||||||||0.03403|0.007754|0.07346|0.02868|0.0366|0.01024|0.0428|0.05449|0.05129|0.02826|0.03177|0.07346|gnomADg_AMI|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA||||||||||rs113592356|2498|1||SNV||||||||||||||||||||0.0210|0.0008|0.0202|0.0119|0.0497|0.0286||||||||||0.03403|0.007754|0.07346|0.02868|0.0366|0.01024|0.0428|0.05449|0.05129|0.02826|0.03177|0.07346|gnomADg_AMI|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA||||||||||rs113592356|2502|1||SNV||||||||||||||||||||0.0210|0.0008|0.0202|0.0119|0.0497|0.0286||||||||||0.03403|0.007754|0.07346|0.02868|0.0366|0.01024|0.0428|0.05449|0.05129|0.02826|0.03177|0.07346|gnomADg_AMI|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA||||||||||rs113592356|2510|1||SNV||||||||||||||||||||0.0210|0.0008|0.0202|0.0119|0.0497|0.0286||||||||||0.03403|0.007754|0.07346|0.02868|0.0366|0.01024|0.0428|0.05449|0.05129|0.02826|0.03177|0.07346|gnomADg_AMI|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA||||||||||rs113592356|2500|1||SNV||||||||||||||||||||0.0210|0.0008|0.0202|0.0119|0.0497|0.0286||||||||||0.03403|0.007754|0.07346|0.02868|0.0366|0.01024|0.0428|0.05449|0.05129|0.02826|0.03177|0.07346|gnomADg_AMI|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA||||||||||rs113592356|2569|1||SNV||||||||||||||||||||0.0210|0.0008|0.0202|0.0119|0.0497|0.0286||||||||||0.03403|0.007754|0.07346|0.02868|0.0366|0.01024|0.0428|0.05449|0.05129|0.02826|0.03177|0.07346|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,12:0.888:12:0,0:0,5:0,7:0,0,5,7 -chr1 1069761 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C1|1%2C1;DP=5;ECNT=1;GERMQ=38;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=141;POPAF=7.3;TLOD=3.82;SRC=snv;GRP=s001;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000394517|lncRNA|||||||||||3302|1||SNV||||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene|||||||||||406|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000427998|lncRNA|||||||||||3305|1||SNV||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000433695|lncRNA|||||||||||3487|1||SNV||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000451054|lncRNA|||||||||||3320|1||SNV||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding|||||||||||1206|-1||SNV|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF||||||||||||||||||||||||||||||||||||||||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000456409|lncRNA|||||||||||3305|1||SNV|||YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000685011|lncRNA|||||||||||3308|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000688131|lncRNA|||||||||||3312|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692266|lncRNA|||||||||||3320|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000692821|lncRNA|||||||||||3310|1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000291156|Transcript|ENST00000702922|lncRNA|||||||||||3379|1||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,2:0.4:5:0,0:2,1:2,1:2,1,1,1 -chr1 1071610 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=9%2C10|10%2C9;DP=39;ECNT=1;GERMQ=33;MBQ=32,32;MFRL=0,0;MMQ=60,60;MPOS=101;POPAF=7.3;TLOD=62.27;SRC=snv;GRP=s001;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene||||||||||rs4326571|2255|1||SNV|||YES|||||||||||||||||0.8163|0.8427|0.8012|0.9196|0.7316|0.772||||||||||0.7643|0.8149|0.7484|0.8063|0.8077|0.9016|0.7468|0.7215|0.7147|0.7699|0.7616|0.9196|EAS|||||||||||||,A|3_prime_UTR_variant|MODIFIER|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding|2/2||ENST00000453464.3:c.*207C>T||1257|||||rs4326571||-1||SNV|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF||||||||0.8163|0.8427|0.8012|0.9196|0.7316|0.772||||||||||0.7643|0.8149|0.7484|0.8063|0.8077|0.9016|0.7468|0.7215|0.7147|0.7699|0.7616|0.9196|EAS|||||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:19,19:0.538:38:1,2:9,10:11,13:9,10,10,9 -chr1 1071823 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=2%2C4|2%2C2;DP=10;ECNT=4;GERMQ=37;MBQ=31,34;MFRL=0,0;MMQ=60,60;MPOS=16;POPAF=7.3;TLOD=13.09;SRC=snv;GRP=s001;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene||||||||||rs4633229|2468|1||SNV|||YES|||||||||||||||||0.8413|0.8797|0.8112|0.9196|0.7883|0.7843|0.816|0.8594|0.8533|0.8069|0.9078|0.8538|0.7842|0.8041|0.7851|0.8132|0.8588|0.818|0.8282|0.8229|0.9025|0.8464|0.731|0.7728|0.8072|0.776|0.9196|EAS|||||||||||||,G|synonymous_variant|LOW|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding|2/2||ENST00000453464.3:c.744T>C|ENSP00000410533.1:p.Asp248%3D|1044|744|248|D|gaT/gaC|rs4633229||-1||SNV|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF||||||||0.8413|0.8797|0.8112|0.9196|0.7883|0.7843|0.816|0.8594|0.8533|0.8069|0.9078|0.8538|0.7842|0.8041|0.7851|0.8132|0.8588|0.818|0.8282|0.8229|0.9025|0.8464|0.731|0.7728|0.8072|0.776|0.9196|EAS|||||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,4:0.375:10:0,0:2,2:4,2:2,4,2,2 -chr1 1071842 . G T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=2%2C2|1%2C1;DP=6;ECNT=4;GERMQ=39;MBQ=31,33;MFRL=0,0;MMQ=60,60;MPOS=21;POPAF=7.3;TLOD=6.15;SRC=snv;GRP=s001;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene||||||||||rs71628928&COSV69251322|2487|1||SNV|||YES|||||||||||||||||0.1174|0.0257|0.0951|0.1091|0.163|0.2188|0.1412|0.02294|0.07825|0.1934|0.07649|0.2412|0.148|0.1606|0.2119|0.1192|0.03126|0.1429|0.101|0.1983|0.08671|0.2329|0.1741|0.1507|0.1318|0.2039|0.2412|gnomADe_FIN||0&1|0&1||||||||||,T|missense_variant|MODERATE|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding|2/2||ENST00000453464.3:c.725C>A|ENSP00000410533.1:p.Pro242His|1025|725|242|P/H|cCc/cAc|rs71628928&COSV69251322||-1||SNV|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF|||deleterious(0.01)|possibly_damaging(0.897)||||0.1174|0.0257|0.0951|0.1091|0.163|0.2188|0.1412|0.02294|0.07825|0.1934|0.07649|0.2412|0.148|0.1606|0.2119|0.1192|0.03126|0.1429|0.101|0.1983|0.08671|0.2329|0.1741|0.1507|0.1318|0.2039|0.2412|gnomADe_FIN||0&1|0&1||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,2:0.333:6:0,0:2,1:3,1:2,2,1,1 -chr1 1072067 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=6%2C7|1%2C1;DP=16;ECNT=1;GERMQ=55;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=15;POPAF=7.3;TLOD=5.5;SRC=snv;GRP=s001;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene|||||||||||2712|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|missense_variant|MODERATE|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding|2/2||ENST00000453464.3:c.500C>A|ENSP00000410533.1:p.Pro167His|800|500|167|P/H|cCt/cAt|||-1||SNV|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF|||deleterious(0)|possibly_damaging(0.745)||||||||||||||||||||||||||||||||||||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:13,2:0.182:15:1,0:6,1:8,1:6,7,1,1 -chr1 1074098 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C1|2%2C3;DP=11;ECNT=1;GERMQ=36;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=74;POPAF=7.3;TLOD=17.05;SRC=snv;GRP=s001;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000217801|Transcript|ENST00000412397|transcribed_unprocessed_pseudogene||||||||||rs9442367|4743|1||SNV|||YES|||||||||||||||||0.8133|0.8313|0.8012|0.9177|0.7336|0.772||||||||||0.7652|0.8078|0.7879|0.8053|0.8069|0.8964|0.7518|0.7247|0.7202|0.7682|0.7622|0.9177|EAS|||||||||||||,C|5_prime_UTR_variant|MODIFIER|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding|1/2||ENST00000453464.3:c.-92C>G||209|||||rs9442367||-1||SNV|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF||||||||0.8133|0.8313|0.8012|0.9177|0.7336|0.772||||||||||0.7652|0.8078|0.7879|0.8053|0.8069|0.8964|0.7518|0.7247|0.7202|0.7682|0.7622|0.9177|EAS|||||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344484|promoter||||||||||rs9442367||||SNV||||||||||||||||||||0.8133|0.8313|0.8012|0.9177|0.7336|0.772||||||||||0.7652|0.8078|0.7879|0.8053|0.8069|0.8964|0.7518|0.7247|0.7202|0.7682|0.7622|0.9177|EAS|||||||||||||,C|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00521838332|||||||||||rs9442367||-1||SNV||||||||||||||||||||0.8133|0.8313|0.8012|0.9177|0.7336|0.772||||||||||0.7652|0.8078|0.7879|0.8053|0.8069|0.8964|0.7518|0.7247|0.7202|0.7682|0.7622|0.9177|EAS|||||ENSPFM0307|10|N|-0.040|HOXB2::ELF1|||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,5:0.574:8:0,1:2,2:2,3:2,1,2,3 -chr1 1074738 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=21;POPAF=7.3;TLOD=3.38;SRC=snv;GRP=s001;CSQ=A|upstream_gene_variant|MODIFIER|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding||||||||||rs80254000|432|-1||SNV|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF||||||||0.0214|0.0008|0.0202|0.0119|0.0517|0.0286||||||||||0.03449|0.007769|0.07346|0.02891|0.03658|0.01058|0.0439|0.05696|0.05206|0.02775|0.03166|0.07346|gnomADg_AMI|||||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN||,A|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00202261078|||||||||||rs80254000||1||SNV||||||||||||||||||||0.0214|0.0008|0.0202|0.0119|0.0517|0.0286||||||||||0.03449|0.007769|0.07346|0.02891|0.03658|0.01058|0.0439|0.05696|0.05206|0.02775|0.03166|0.07346|gnomADg_AMI|||||ENSPFM0401|12|N|0.041|MYBL1::MAX||||,A|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00203276162|||||||||||rs80254000||-1||SNV||||||||||||||||||||0.0214|0.0008|0.0202|0.0119|0.0517|0.0286||||||||||0.03449|0.007769|0.07346|0.02891|0.03658|0.01058|0.0439|0.05696|0.05206|0.02775|0.03166|0.07346|gnomADg_AMI|||||ENSPFM0240|10|N|-0.011|GCM1::MAX||||,A|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00387797770|||||||||||rs80254000||-1||SNV||||||||||||||||||||0.0214|0.0008|0.0202|0.0119|0.0517|0.0286||||||||||0.03449|0.007769|0.07346|0.02891|0.03658|0.01058|0.0439|0.05696|0.05206|0.02775|0.03166|0.07346|gnomADg_AMI|||||ENSPFM0374|8|N|-0.015|MEIS1::MAX|||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 1074879 . G A . haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=2;GERMQ=44;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=34;POPAF=7.3;TLOD=4.2;SRC=snv;GRP=s001;CSQ=A|upstream_gene_variant|MODIFIER|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding||||||||||rs75511034|573|-1||SNV|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF||||||||0.0214|0.0008|0.0202|0.0119|0.0517|0.0286||||||||||0.03474|0.007937|0.07395|0.02917|0.03662|0.01044|0.04472|0.05696|0.05225|0.02756|0.03204|0.07395|gnomADg_AMI|||||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN|| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,1:0,0:0,1:0|1:1074879_G_A:1074879:0,0,0,1 -chr1 1074893 . A C . base_qual;haplotype AS_FilterStatus=base_qual;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=2;GERMQ=44;MBQ=0,13;MFRL=0,0;MMQ=60,60;MPOS=48;POPAF=7.3;TLOD=4.2;SRC=snv;GRP=s001;CSQ=C|upstream_gene_variant|MODIFIER|RNF223|ENSG00000237330|Transcript|ENST00000453464|protein_coding|||||||||||587|-1||SNV|HGNC|HGNC:40020|YES|NM_001205252.2||2|P1|CCDS53257.1|ENSP00000410533|E7ERA6.81||UPI0001A5E6EF||||||||||||||||||||||||||||||||||||||||||||||MSSGQQVWHTAVPPPRRSSSIASMPRSPSSAGSPRSPGTPGSERVASPLECSICFSGYDNIFKTPKELSCTHVFCLECLARLAAAQPVGRPGGEAVPCPFCRQPTAVPPAGAPALCTSRQLQARMPAHLRREEPVWLEGTKLCCQPLPTTPGREPGFVCVDVGLSKPAEPPAPARDPAPRRGRLARCWARCRDWRRMALVSALLLMLFCVALWPVQCALKTGNLRCLPLPPRPPATSTAASPLGPLTDN|| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,0:0,0:0,1:0|1:1074879_G_A:1074879:0,0,0,1 -chr1 1080336 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=122;POPAF=7.3;TLOD=3.48;SRC=snv;GRP=s001;CSQ=A|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379319|protein_coding||||||||||rs61290587|2364|-1||SNV|HGNC|HGNC:26062||||5|P1|CCDS7.2|ENSP00000368623|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||0.2508|0.4637|0.1369|0.1091|0.1819|0.2607||||||||||0.2375|0.415|0.1678|0.1433|0.2125|0.0931|0.2651|0.2057|0.1585|0.2218|0.2618|0.4637|AFR|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,A|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379320|protein_coding||||||||||rs61290587|1899|-1||SNV|HGNC|HGNC:26062||||2||CCDS85917.1|ENSP00000368624||Q5T2W9.107|UPI0000205ACE||||||||0.2508|0.4637|0.1369|0.1091|0.1819|0.2607||||||||||0.2375|0.415|0.1678|0.1433|0.2125|0.0931|0.2651|0.2057|0.1585|0.2218|0.2618|0.4637|AFR|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,A|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay||||||||||rs61290587|1487|-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||0.2508|0.4637|0.1369|0.1091|0.1819|0.2607||||||||||0.2375|0.415|0.1678|0.1433|0.2125|0.0931|0.2651|0.2057|0.1585|0.2218|0.2618|0.4637|AFR|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,A|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding||||||||||rs61290587|1482|-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||0.2508|0.4637|0.1369|0.1091|0.1819|0.2607||||||||||0.2375|0.415|0.1678|0.1433|0.2125|0.0931|0.2651|0.2057|0.1585|0.2218|0.2618|0.4637|AFR|||||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,A|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding||||||||||rs61290587|1487|-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||0.2508|0.4637|0.1369|0.1091|0.1819|0.2607||||||||||0.2375|0.415|0.1678|0.1433|0.2125|0.0931|0.2651|0.2057|0.1585|0.2218|0.2618|0.4637|AFR|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,A|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||||||||||rs61290587|2580|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||0.2508|0.4637|0.1369|0.1091|0.1819|0.2607||||||||||0.2375|0.415|0.1678|0.1433|0.2125|0.0931|0.2651|0.2057|0.1585|0.2218|0.2618|0.4637|AFR|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,A|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000464905|protein_coding_CDS_not_defined||||||||||rs61290587|1810|-1||SNV|HGNC|HGNC:26062||||3||||||||||||||0.2508|0.4637|0.1369|0.1091|0.1819|0.2607||||||||||0.2375|0.415|0.1678|0.1433|0.2125|0.0931|0.2651|0.2057|0.1585|0.2218|0.2618|0.4637|AFR|||||||||||||,A|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000465822|retained_intron||||||||||rs61290587|1487|-1||SNV|HGNC|HGNC:26062||||2||||||||||||||0.2508|0.4637|0.1369|0.1091|0.1819|0.2607||||||||||0.2375|0.415|0.1678|0.1433|0.2125|0.0931|0.2651|0.2057|0.1585|0.2218|0.2618|0.4637|AFR|||||||||||||,A|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay||||||||||rs61290587|1489|-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||0.2508|0.4637|0.1369|0.1091|0.1819|0.2607||||||||||0.2375|0.415|0.1678|0.1433|0.2125|0.0931|0.2651|0.2057|0.1585|0.2218|0.2618|0.4637|AFR|||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,A|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay||||||||||rs61290587|1489|-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||0.2508|0.4637|0.1369|0.1091|0.1819|0.2607||||||||||0.2375|0.415|0.1678|0.1433|0.2125|0.0931|0.2651|0.2057|0.1585|0.2218|0.2618|0.4637|AFR|||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,A|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||||||||||rs61290587|3590|-1||SNV|HGNC|HGNC:26062||||5||||||||||||||0.2508|0.4637|0.1369|0.1091|0.1819|0.2607||||||||||0.2375|0.415|0.1678|0.1433|0.2125|0.0931|0.2651|0.2057|0.1585|0.2218|0.2618|0.4637|AFR|||||||||||||,A|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000487177|retained_intron||||||||||rs61290587|1489|-1||SNV|HGNC|HGNC:26062||||2||||||||||||||0.2508|0.4637|0.1369|0.1091|0.1819|0.2607||||||||||0.2375|0.415|0.1678|0.1433|0.2125|0.0931|0.2651|0.2057|0.1585|0.2218|0.2618|0.4637|AFR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 1080437 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=3;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=35;POPAF=7.3;TLOD=7.08;SRC=snv;GRP=s001;CSQ=A|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379319|protein_coding||||||||||rs12746483|2263|-1||SNV|HGNC|HGNC:26062||||5|P1|CCDS7.2|ENSP00000368623|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||0.7616|0.6543|0.781|0.9167|0.7247|0.771||||||||||0.7105|0.6425|0.7445|0.7816|0.804|0.8964|0.7452|0.712|0.7074|0.7232|0.7581|0.9167|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,A|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379320|protein_coding||||||||||rs12746483|1798|-1||SNV|HGNC|HGNC:26062||||2||CCDS85917.1|ENSP00000368624||Q5T2W9.107|UPI0000205ACE||||||||0.7616|0.6543|0.781|0.9167|0.7247|0.771||||||||||0.7105|0.6425|0.7445|0.7816|0.804|0.8964|0.7452|0.712|0.7074|0.7232|0.7581|0.9167|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,A|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay||||||||||rs12746483|1386|-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||0.7616|0.6543|0.781|0.9167|0.7247|0.771||||||||||0.7105|0.6425|0.7445|0.7816|0.804|0.8964|0.7452|0.712|0.7074|0.7232|0.7581|0.9167|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,A|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding||||||||||rs12746483|1381|-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||0.7616|0.6543|0.781|0.9167|0.7247|0.771||||||||||0.7105|0.6425|0.7445|0.7816|0.804|0.8964|0.7452|0.712|0.7074|0.7232|0.7581|0.9167|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,A|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding||||||||||rs12746483|1386|-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||0.7616|0.6543|0.781|0.9167|0.7247|0.771||||||||||0.7105|0.6425|0.7445|0.7816|0.804|0.8964|0.7452|0.712|0.7074|0.7232|0.7581|0.9167|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,A|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||||||||||rs12746483|2479|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||0.7616|0.6543|0.781|0.9167|0.7247|0.771||||||||||0.7105|0.6425|0.7445|0.7816|0.804|0.8964|0.7452|0.712|0.7074|0.7232|0.7581|0.9167|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,A|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000464905|protein_coding_CDS_not_defined||||||||||rs12746483|1709|-1||SNV|HGNC|HGNC:26062||||3||||||||||||||0.7616|0.6543|0.781|0.9167|0.7247|0.771||||||||||0.7105|0.6425|0.7445|0.7816|0.804|0.8964|0.7452|0.712|0.7074|0.7232|0.7581|0.9167|EAS|||||||||||||,A|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000465822|retained_intron||||||||||rs12746483|1386|-1||SNV|HGNC|HGNC:26062||||2||||||||||||||0.7616|0.6543|0.781|0.9167|0.7247|0.771||||||||||0.7105|0.6425|0.7445|0.7816|0.804|0.8964|0.7452|0.712|0.7074|0.7232|0.7581|0.9167|EAS|||||||||||||,A|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay||||||||||rs12746483|1388|-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||0.7616|0.6543|0.781|0.9167|0.7247|0.771||||||||||0.7105|0.6425|0.7445|0.7816|0.804|0.8964|0.7452|0.712|0.7074|0.7232|0.7581|0.9167|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,A|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay||||||||||rs12746483|1388|-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||0.7616|0.6543|0.781|0.9167|0.7247|0.771||||||||||0.7105|0.6425|0.7445|0.7816|0.804|0.8964|0.7452|0.712|0.7074|0.7232|0.7581|0.9167|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,A|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||||||||||rs12746483|3489|-1||SNV|HGNC|HGNC:26062||||5||||||||||||||0.7616|0.6543|0.781|0.9167|0.7247|0.771||||||||||0.7105|0.6425|0.7445|0.7816|0.804|0.8964|0.7452|0.712|0.7074|0.7232|0.7581|0.9167|EAS|||||||||||||,A|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000487177|retained_intron||||||||||rs12746483|1388|-1||SNV|HGNC|HGNC:26062||||2||||||||||||||0.7616|0.6543|0.781|0.9167|0.7247|0.771||||||||||0.7105|0.6425|0.7445|0.7816|0.804|0.8964|0.7452|0.712|0.7074|0.7232|0.7581|0.9167|EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.684:2:0,0:0,1:0,1:0,0,1,1 -chr1 1081649 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=108;POPAF=7.3;TLOD=7.02;SRC=snv;GRP=s001;CSQ=G|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379319|protein_coding||||||||||rs4970352|1051|-1||SNV|HGNC|HGNC:26062||||5|P1|CCDS7.2|ENSP00000368623|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||0.9962|0.9939|0.9957|1|0.992|1||||||||||0.976|0.9911|0.9879|0.9867|0.9939|0.9886|0.9369|0.9935|0.9681|0.9763|0.9767|1|EAS&SAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,G|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379320|protein_coding||||||||||rs4970352|586|-1||SNV|HGNC|HGNC:26062||||2||CCDS85917.1|ENSP00000368624||Q5T2W9.107|UPI0000205ACE||||||||0.9962|0.9939|0.9957|1|0.992|1||||||||||0.976|0.9911|0.9879|0.9867|0.9939|0.9886|0.9369|0.9935|0.9681|0.9763|0.9767|1|EAS&SAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,G|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay||||||||||rs4970352|174|-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||0.9962|0.9939|0.9957|1|0.992|1||||||||||0.976|0.9911|0.9879|0.9867|0.9939|0.9886|0.9369|0.9935|0.9681|0.9763|0.9767|1|EAS&SAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,G|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding||||||||||rs4970352|169|-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||0.9962|0.9939|0.9957|1|0.992|1||||||||||0.976|0.9911|0.9879|0.9867|0.9939|0.9886|0.9369|0.9935|0.9681|0.9763|0.9767|1|EAS&SAS|||||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,G|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding||||||||||rs4970352|174|-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||0.9962|0.9939|0.9957|1|0.992|1||||||||||0.976|0.9911|0.9879|0.9867|0.9939|0.9886|0.9369|0.9935|0.9681|0.9763|0.9767|1|EAS&SAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,G|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||||||||||rs4970352|1267|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||0.9962|0.9939|0.9957|1|0.992|1||||||||||0.976|0.9911|0.9879|0.9867|0.9939|0.9886|0.9369|0.9935|0.9681|0.9763|0.9767|1|EAS&SAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,G|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000464905|protein_coding_CDS_not_defined||||||||||rs4970352|497|-1||SNV|HGNC|HGNC:26062||||3||||||||||||||0.9962|0.9939|0.9957|1|0.992|1||||||||||0.976|0.9911|0.9879|0.9867|0.9939|0.9886|0.9369|0.9935|0.9681|0.9763|0.9767|1|EAS&SAS|||||||||||||,G|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000465822|retained_intron||||||||||rs4970352|174|-1||SNV|HGNC|HGNC:26062||||2||||||||||||||0.9962|0.9939|0.9957|1|0.992|1||||||||||0.976|0.9911|0.9879|0.9867|0.9939|0.9886|0.9369|0.9935|0.9681|0.9763|0.9767|1|EAS&SAS|||||||||||||,G|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay||||||||||rs4970352|176|-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||0.9962|0.9939|0.9957|1|0.992|1||||||||||0.976|0.9911|0.9879|0.9867|0.9939|0.9886|0.9369|0.9935|0.9681|0.9763|0.9767|1|EAS&SAS|||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,G|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay||||||||||rs4970352|176|-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||0.9962|0.9939|0.9957|1|0.992|1||||||||||0.976|0.9911|0.9879|0.9867|0.9939|0.9886|0.9369|0.9935|0.9681|0.9763|0.9767|1|EAS&SAS|||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,G|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||||||||||rs4970352|2277|-1||SNV|HGNC|HGNC:26062||||5||||||||||||||0.9962|0.9939|0.9957|1|0.992|1||||||||||0.976|0.9911|0.9879|0.9867|0.9939|0.9886|0.9369|0.9935|0.9681|0.9763|0.9767|1|EAS&SAS|||||||||||||,G|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000487177|retained_intron||||||||||rs4970352|176|-1||SNV|HGNC|HGNC:26062||||2||||||||||||||0.9962|0.9939|0.9957|1|0.992|1||||||||||0.976|0.9911|0.9879|0.9867|0.9939|0.9886|0.9369|0.9935|0.9681|0.9763|0.9767|1|EAS&SAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1081961 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=6%2C6|7%2C3;DP=22;ECNT=1;GERMQ=35;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=86;POPAF=7.3;TLOD=28.93;SRC=snv;GRP=s001;CSQ=T|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379319|protein_coding||||||||||rs1133647&COSV53882530|739|-1||SNV|HGNC|HGNC:26062||||5|P1|CCDS7.2|ENSP00000368623|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||0.8091|0.8245|0.7997|0.9177|0.7256|0.7689||||||||||0.7556|0.7991|0.7467|0.7999|0.803|0.8959|0.7451|0.7166|0.7075|0.765|0.7581|0.9177|EAS||0&1|0&1||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379320|protein_coding||||||||||rs1133647&COSV53882530|274|-1||SNV|HGNC|HGNC:26062||||2||CCDS85917.1|ENSP00000368624||Q5T2W9.107|UPI0000205ACE||||||||0.8091|0.8245|0.7997|0.9177|0.7256|0.7689||||||||||0.7556|0.7991|0.7467|0.7999|0.803|0.8959|0.7451|0.7166|0.7075|0.765|0.7581|0.9177|EAS||0&1|0&1||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay|11/11||ENST00000379325.7:c.*1131C>A||1872|||||rs1133647&COSV53882530||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||0.8091|0.8245|0.7997|0.9177|0.7256|0.7689||||||||||0.7556|0.7991|0.7467|0.7999|0.803|0.8959|0.7451|0.7166|0.7075|0.765|0.7581|0.9177|EAS||0&1|0&1||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,T|3_prime_UTR_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding|12/12||ENST00000379339.5:c.*932C>A||2286|||||rs1133647&COSV53882530||-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||0.8091|0.8245|0.7997|0.9177|0.7256|0.7689||||||||||0.7556|0.7991|0.7467|0.7999|0.803|0.8959|0.7451|0.7166|0.7075|0.765|0.7581|0.9177|EAS||0&1|0&1||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|3_prime_UTR_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding|10/10||ENST00000421241.7:c.*932C>A||1694|||||rs1133647&COSV53882530||-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||0.8091|0.8245|0.7997|0.9177|0.7256|0.7689||||||||||0.7556|0.7991|0.7467|0.7999|0.803|0.8959|0.7451|0.7166|0.7075|0.765|0.7581|0.9177|EAS||0&1|0&1||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||||||||||rs1133647&COSV53882530|955|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||0.8091|0.8245|0.7997|0.9177|0.7256|0.7689||||||||||0.7556|0.7991|0.7467|0.7999|0.803|0.8959|0.7451|0.7166|0.7075|0.765|0.7581|0.9177|EAS||0&1|0&1||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,T|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000464905|protein_coding_CDS_not_defined||||||||||rs1133647&COSV53882530|185|-1||SNV|HGNC|HGNC:26062||||3||||||||||||||0.8091|0.8245|0.7997|0.9177|0.7256|0.7689||||||||||0.7556|0.7991|0.7467|0.7999|0.803|0.8959|0.7451|0.7166|0.7075|0.765|0.7581|0.9177|EAS||0&1|0&1||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000465822|retained_intron|9/9||ENST00000465822.5:n.1795C>A||1795|||||rs1133647&COSV53882530||-1||SNV|HGNC|HGNC:26062||||2||||||||||||||0.8091|0.8245|0.7997|0.9177|0.7256|0.7689||||||||||0.7556|0.7991|0.7467|0.7999|0.803|0.8959|0.7451|0.7166|0.7075|0.765|0.7581|0.9177|EAS||0&1|0&1||||||||||,T|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay|12/12||ENST00000467751.5:c.*1462C>A||1963|||||rs1133647&COSV53882530||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||0.8091|0.8245|0.7997|0.9177|0.7256|0.7689||||||||||0.7556|0.7991|0.7467|0.7999|0.803|0.8959|0.7451|0.7166|0.7075|0.765|0.7581|0.9177|EAS||0&1|0&1||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,T|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay|10/10||ENST00000477196.5:c.*2616C>A||3078|||||rs1133647&COSV53882530||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||0.8091|0.8245|0.7997|0.9177|0.7256|0.7689||||||||||0.7556|0.7991|0.7467|0.7999|0.803|0.8959|0.7451|0.7166|0.7075|0.765|0.7581|0.9177|EAS||0&1|0&1||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,T|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||||||||||rs1133647&COSV53882530|1965|-1||SNV|HGNC|HGNC:26062||||5||||||||||||||0.8091|0.8245|0.7997|0.9177|0.7256|0.7689||||||||||0.7556|0.7991|0.7467|0.7999|0.803|0.8959|0.7451|0.7166|0.7075|0.765|0.7581|0.9177|EAS||0&1|0&1||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000487177|retained_intron|3/3||ENST00000487177.5:n.3179C>A||3179|||||rs1133647&COSV53882530||-1||SNV|HGNC|HGNC:26062||||2||||||||||||||0.8091|0.8245|0.7997|0.9177|0.7256|0.7689||||||||||0.7556|0.7991|0.7467|0.7999|0.803|0.8959|0.7451|0.7166|0.7075|0.765|0.7581|0.9177|EAS||0&1|0&1|||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:12,10:0.5:22:1,0:6,7:7,7:6,6,7,3 -chr1 1082207 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=6%2C10|4%2C4;DP=26;ECNT=1;GERMQ=41;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=32;POPAF=7.3;TLOD=25.52;SRC=snv;GRP=s001;CSQ=T|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379319|protein_coding||||||||||rs3766191|493|-1||SNV|HGNC|HGNC:26062||||5|P1|CCDS7.2|ENSP00000368623|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||0.1711|0.2035|0.1124|0.125|0.165|0.2229||||||||||0.1571|0.1605|0.1414|0.1145|0.2061|0.1129|0.2343|0.1962|0.1498|0.1552|0.2091|0.2343|gnomADg_FIN|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379320|protein_coding||||||||||rs3766191|28|-1||SNV|HGNC|HGNC:26062||||2||CCDS85917.1|ENSP00000368624||Q5T2W9.107|UPI0000205ACE||||||||0.1711|0.2035|0.1124|0.125|0.165|0.2229||||||||||0.1571|0.1605|0.1414|0.1145|0.2061|0.1129|0.2343|0.1962|0.1498|0.1552|0.2091|0.2343|gnomADg_FIN|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay|11/11||ENST00000379325.7:c.*885G>A||1626|||||rs3766191||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||0.1711|0.2035|0.1124|0.125|0.165|0.2229||||||||||0.1571|0.1605|0.1414|0.1145|0.2061|0.1129|0.2343|0.1962|0.1498|0.1552|0.2091|0.2343|gnomADg_FIN|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,T|3_prime_UTR_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding|12/12||ENST00000379339.5:c.*686G>A||2040|||||rs3766191||-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||0.1711|0.2035|0.1124|0.125|0.165|0.2229||||||||||0.1571|0.1605|0.1414|0.1145|0.2061|0.1129|0.2343|0.1962|0.1498|0.1552|0.2091|0.2343|gnomADg_FIN|||||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|3_prime_UTR_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding|10/10||ENST00000421241.7:c.*686G>A||1448|||||rs3766191||-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||0.1711|0.2035|0.1124|0.125|0.165|0.2229||||||||||0.1571|0.1605|0.1414|0.1145|0.2061|0.1129|0.2343|0.1962|0.1498|0.1552|0.2091|0.2343|gnomADg_FIN|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||||||||||rs3766191|709|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||0.1711|0.2035|0.1124|0.125|0.165|0.2229||||||||||0.1571|0.1605|0.1414|0.1145|0.2061|0.1129|0.2343|0.1962|0.1498|0.1552|0.2091|0.2343|gnomADg_FIN|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,T|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding||||||||||rs3766191|4932|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20||||||||0.1711|0.2035|0.1124|0.125|0.165|0.2229||||||||||0.1571|0.1605|0.1414|0.1145|0.2061|0.1129|0.2343|0.1962|0.1498|0.1552|0.2091|0.2343|gnomADg_FIN|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,T|non_coding_transcript_exon_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000464905|protein_coding_CDS_not_defined|3/3||ENST00000464905.1:n.589G>A||589|||||rs3766191||-1||SNV|HGNC|HGNC:26062||||3||||||||||||||0.1711|0.2035|0.1124|0.125|0.165|0.2229||||||||||0.1571|0.1605|0.1414|0.1145|0.2061|0.1129|0.2343|0.1962|0.1498|0.1552|0.2091|0.2343|gnomADg_FIN|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000465822|retained_intron|9/9||ENST00000465822.5:n.1549G>A||1549|||||rs3766191||-1||SNV|HGNC|HGNC:26062||||2||||||||||||||0.1711|0.2035|0.1124|0.125|0.165|0.2229||||||||||0.1571|0.1605|0.1414|0.1145|0.2061|0.1129|0.2343|0.1962|0.1498|0.1552|0.2091|0.2343|gnomADg_FIN|||||||||||||,T|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay|12/12||ENST00000467751.5:c.*1216G>A||1717|||||rs3766191||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||0.1711|0.2035|0.1124|0.125|0.165|0.2229||||||||||0.1571|0.1605|0.1414|0.1145|0.2061|0.1129|0.2343|0.1962|0.1498|0.1552|0.2091|0.2343|gnomADg_FIN|||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,T|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000473600|retained_intron||||||||||rs3766191|4934|-1||SNV|HGNC|HGNC:26062||||3||||||||||||||0.1711|0.2035|0.1124|0.125|0.165|0.2229||||||||||0.1571|0.1605|0.1414|0.1145|0.2061|0.1129|0.2343|0.1962|0.1498|0.1552|0.2091|0.2343|gnomADg_FIN|||||||||||||,T|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding||||||||||rs3766191|4983|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21||||||||0.1711|0.2035|0.1124|0.125|0.165|0.2229||||||||||0.1571|0.1605|0.1414|0.1145|0.2061|0.1129|0.2343|0.1962|0.1498|0.1552|0.2091|0.2343|gnomADg_FIN|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,T|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay|10/10||ENST00000477196.5:c.*2370G>A||2832|||||rs3766191||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||0.1711|0.2035|0.1124|0.125|0.165|0.2229||||||||||0.1571|0.1605|0.1414|0.1145|0.2061|0.1129|0.2343|0.1962|0.1498|0.1552|0.2091|0.2343|gnomADg_FIN|||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,T|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||||||||||rs3766191|1719|-1||SNV|HGNC|HGNC:26062||||5||||||||||||||0.1711|0.2035|0.1124|0.125|0.165|0.2229||||||||||0.1571|0.1605|0.1414|0.1145|0.2061|0.1129|0.2343|0.1962|0.1498|0.1552|0.2091|0.2343|gnomADg_FIN|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000487177|retained_intron|3/3||ENST00000487177.5:n.2933G>A||2933|||||rs3766191||-1||SNV|HGNC|HGNC:26062||||2||||||||||||||0.1711|0.2035|0.1124|0.125|0.165|0.2229||||||||||0.1571|0.1605|0.1414|0.1145|0.2061|0.1129|0.2343|0.1962|0.1498|0.1552|0.2091|0.2343|gnomADg_FIN||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:16,8:0.352:24:4,1:6,4:10,5:6,10,4,4 -chr1 1082609 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=17%2C16|1%2C1;DP=35;ECNT=1;GERMQ=93;MBQ=32,34;MFRL=0,0;MMQ=60,60;MPOS=68;POPAF=7.3;TLOD=4.99;SRC=snv;GRP=s001;CSQ=C|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379319|protein_coding|||||||||||91|-1||SNV|HGNC|HGNC:26062||||5|P1|CCDS7.2|ENSP00000368623|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|3_prime_UTR_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379320|protein_coding|8/8||ENST00000379320.5:c.*284A>G||1950|||||||-1||SNV|HGNC|HGNC:26062||||2||CCDS85917.1|ENSP00000368624||Q5T2W9.107|UPI0000205ACE||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay|11/11||ENST00000379325.7:c.*483A>G||1224|||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,C|3_prime_UTR_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding|12/12||ENST00000379339.5:c.*284A>G||1638|||||||-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|3_prime_UTR_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding|10/10||ENST00000421241.7:c.*284A>G||1046|||||||-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding|||||||||||307|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,C|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000442117|protein_coding|||||||||||4966|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000416740||B2REC4.74|UPI000173DCFD||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNA||,C|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding|||||||||||4530|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,C|non_coding_transcript_exon_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000464905|protein_coding_CDS_not_defined|2/3||ENST00000464905.1:n.537A>G||537|||||||-1||SNV|HGNC|HGNC:26062||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000465822|retained_intron|9/9||ENST00000465822.5:n.1147A>G||1147|||||||-1||SNV|HGNC|HGNC:26062||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay|12/12||ENST00000467751.5:c.*814A>G||1315|||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,C|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000473600|retained_intron|||||||||||4532|-1||SNV|HGNC|HGNC:26062||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding|||||||||||4581|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,C|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay|10/10||ENST00000477196.5:c.*1968A>G||2430|||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,C|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined|||||||||||1317|-1||SNV|HGNC|HGNC:26062||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000487177|retained_intron|3/3||ENST00000487177.5:n.2531A>G||2531|||||||-1||SNV|HGNC|HGNC:26062||||2|||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:33,2:0.087:35:3,0:17,1:20,1:17,16,1,1 -chr1 1083362 . T G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,29;MFRL=0,0;MMQ=60,60;MPOS=140;POPAF=7.3;TLOD=3.08;SRC=snv;GRP=s001;CSQ=G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379319|protein_coding||9/9|ENST00000379319.5:c.503-375A>C|||||||||-1||SNV|HGNC|HGNC:26062||||5|P1|CCDS7.2|ENSP00000368623|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379320|protein_coding||7/7|ENST00000379320.5:c.941-375A>C|||||||||-1||SNV|HGNC|HGNC:26062||||2||CCDS85917.1|ENSP00000368624||Q5T2W9.107|UPI0000205ACE||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,G|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay||10/10|ENST00000379325.7:c.*105-375A>C|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding||11/11|ENST00000379339.5:c.1049-375A>C|||||||||-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding||9/9|ENST00000421241.7:c.503-375A>C|||||||||-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||10/10|ENST00000434641.5:c.600-375A>C|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,G|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000442117|protein_coding|||||||||||4213|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000416740||B2REC4.74|UPI000173DCFD||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNA||,G|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding|||||||||||3777|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,G|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000464905|protein_coding_CDS_not_defined||1/2|ENST00000464905.1:n.159-375A>C|||||||||-1||SNV|HGNC|HGNC:26062||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000465822|retained_intron||8/8|ENST00000465822.5:n.769-375A>C|||||||||-1||SNV|HGNC|HGNC:26062||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay||11/11|ENST00000467751.5:c.*436-375A>C|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,G|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000473600|retained_intron|||||||||||3779|-1||SNV|HGNC|HGNC:26062||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding|||||||||||3828|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,G|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay||9/9|ENST00000477196.5:c.*1590-375A>C|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,G|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined|||||||||||564|-1||SNV|HGNC|HGNC:26062||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000487177|retained_intron|3/3||ENST00000487177.5:n.1778A>C||1778|||||||-1||SNV|HGNC|HGNC:26062||||2|||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 1085966 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C2|2%2C2;DP=8;ECNT=1;GERMQ=36;MBQ=34,34;MFRL=0,0;MMQ=60,60;MPOS=46;POPAF=7.3;TLOD=13.83;SRC=snv;GRP=s001;CSQ=G|synonymous_variant|LOW|C1orf159|ENSG00000131591|Transcript|ENST00000379319|protein_coding|7/10||ENST00000379319.5:c.357T>C|ENSP00000368623.1:p.Ile119%3D|664|357|119|I|atT/atC|rs10907177&COSV53881062||-1||SNV|HGNC|HGNC:26062||||5|P1|CCDS7.2|ENSP00000368623|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||0.1789|0.239|0.1311|0.122|0.1809|0.1881|0.1657|0.2517|0.0973|0.2162|0.09526|0.2382|0.1639|0.1843|0.175|0.1886|0.2537|0.2314|0.129|0.2153|0.1005|0.2365|0.2025|0.1609|0.1876|0.1691|0.2537|gnomADg_AFR||0&1|0&1|22864933|||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,G|synonymous_variant|LOW|C1orf159|ENSG00000131591|Transcript|ENST00000379320|protein_coding|5/8||ENST00000379320.5:c.357T>C|ENSP00000368624.1:p.Ile119%3D|988|357|119|I|atT/atC|rs10907177&COSV53881062||-1||SNV|HGNC|HGNC:26062||||2||CCDS85917.1|ENSP00000368624||Q5T2W9.107|UPI0000205ACE||||||||0.1789|0.239|0.1311|0.122|0.1809|0.1881|0.1657|0.2517|0.0973|0.2162|0.09526|0.2382|0.1639|0.1843|0.175|0.1886|0.2537|0.2314|0.129|0.2153|0.1005|0.2365|0.2025|0.1609|0.1876|0.1691|0.2537|gnomADg_AFR||0&1|0&1|22864933|||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,G|synonymous_variant&NMD_transcript_variant|LOW|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay|7/11||ENST00000379325.7:c.357T>C|ENSP00000368629.3:p.Ile119%3D|528|357|119|I|atT/atC|rs10907177&COSV53881062||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||0.1789|0.239|0.1311|0.122|0.1809|0.1881|0.1657|0.2517|0.0973|0.2162|0.09526|0.2382|0.1639|0.1843|0.175|0.1886|0.2537|0.2314|0.129|0.2153|0.1005|0.2365|0.2025|0.1609|0.1876|0.1691|0.2537|gnomADg_AFR||0&1|0&1|22864933|||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,G|synonymous_variant|LOW|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding|9/12||ENST00000379339.5:c.465T>C|ENSP00000368644.1:p.Ile155%3D|676|465|155|I|atT/atC|rs10907177&COSV53881062||-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||0.1789|0.239|0.1311|0.122|0.1809|0.1881|0.1657|0.2517|0.0973|0.2162|0.09526|0.2382|0.1639|0.1843|0.175|0.1886|0.2537|0.2314|0.129|0.2153|0.1005|0.2365|0.2025|0.1609|0.1876|0.1691|0.2537|gnomADg_AFR||0&1|0&1|22864933|||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,G|synonymous_variant|LOW|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding|7/10||ENST00000421241.7:c.357T>C|ENSP00000400736.2:p.Ile119%3D|522|357|119|I|atT/atC|rs10907177&COSV53881062||-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||0.1789|0.239|0.1311|0.122|0.1809|0.1881|0.1657|0.2517|0.0973|0.2162|0.09526|0.2382|0.1639|0.1843|0.175|0.1886|0.2537|0.2314|0.129|0.2153|0.1005|0.2365|0.2025|0.1609|0.1876|0.1691|0.2537|gnomADg_AFR||0&1|0&1|22864933|||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,G|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000427787|protein_coding||||||||||rs10907177&COSV53881062|4440|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000395935||B2REC5.64|UPI000173DCFE||||||||0.1789|0.239|0.1311|0.122|0.1809|0.1881|0.1657|0.2517|0.0973|0.2162|0.09526|0.2382|0.1639|0.1843|0.175|0.1886|0.2537|0.2314|0.129|0.2153|0.1005|0.2365|0.2025|0.1609|0.1876|0.1691|0.2537|gnomADg_AFR||0&1|0&1|22864933|||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLC||,G|synonymous_variant|LOW|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding|7/11||ENST00000434641.5:c.357T>C|ENSP00000390635.1:p.Ile119%3D|528|357|119|I|atT/atC|rs10907177&COSV53881062||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||0.1789|0.239|0.1311|0.122|0.1809|0.1881|0.1657|0.2517|0.0973|0.2162|0.09526|0.2382|0.1639|0.1843|0.175|0.1886|0.2537|0.2314|0.129|0.2153|0.1005|0.2365|0.2025|0.1609|0.1876|0.1691|0.2537|gnomADg_AFR||0&1|0&1|22864933|||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,G|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000442117|protein_coding||||||||||rs10907177&COSV53881062|1609|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000416740||B2REC4.74|UPI000173DCFD||||||||0.1789|0.239|0.1311|0.122|0.1809|0.1881|0.1657|0.2517|0.0973|0.2162|0.09526|0.2382|0.1639|0.1843|0.175|0.1886|0.2537|0.2314|0.129|0.2153|0.1005|0.2365|0.2025|0.1609|0.1876|0.1691|0.2537|gnomADg_AFR||0&1|0&1|22864933|||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNA||,G|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding||||||||||rs10907177&COSV53881062|1173|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20||||||||0.1789|0.239|0.1311|0.122|0.1809|0.1881|0.1657|0.2517|0.0973|0.2162|0.09526|0.2382|0.1639|0.1843|0.175|0.1886|0.2537|0.2314|0.129|0.2153|0.1005|0.2365|0.2025|0.1609|0.1876|0.1691|0.2537|gnomADg_AFR||0&1|0&1|22864933|||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,G|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000464905|protein_coding_CDS_not_defined||||||||||rs10907177&COSV53881062|1894|-1||SNV|HGNC|HGNC:26062||||3||||||||||||||0.1789|0.239|0.1311|0.122|0.1809|0.1881|0.1657|0.2517|0.0973|0.2162|0.09526|0.2382|0.1639|0.1843|0.175|0.1886|0.2537|0.2314|0.129|0.2153|0.1005|0.2365|0.2025|0.1609|0.1876|0.1691|0.2537|gnomADg_AFR||0&1|0&1|22864933|||||||||,G|non_coding_transcript_exon_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000465822|retained_intron|6/9||ENST00000465822.5:n.466T>C||466|||||rs10907177&COSV53881062||-1||SNV|HGNC|HGNC:26062||||2||||||||||||||0.1789|0.239|0.1311|0.122|0.1809|0.1881|0.1657|0.2517|0.0973|0.2162|0.09526|0.2382|0.1639|0.1843|0.175|0.1886|0.2537|0.2314|0.129|0.2153|0.1005|0.2365|0.2025|0.1609|0.1876|0.1691|0.2537|gnomADg_AFR||0&1|0&1|22864933|||||||||,G|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay|8/12||ENST00000467751.5:c.*118T>C||619|||||rs10907177&COSV53881062||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||0.1789|0.239|0.1311|0.122|0.1809|0.1881|0.1657|0.2517|0.0973|0.2162|0.09526|0.2382|0.1639|0.1843|0.175|0.1886|0.2537|0.2314|0.129|0.2153|0.1005|0.2365|0.2025|0.1609|0.1876|0.1691|0.2537|gnomADg_AFR||0&1|0&1|22864933|||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,G|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000473600|retained_intron||||||||||rs10907177&COSV53881062|1175|-1||SNV|HGNC|HGNC:26062||||3||||||||||||||0.1789|0.239|0.1311|0.122|0.1809|0.1881|0.1657|0.2517|0.0973|0.2162|0.09526|0.2382|0.1639|0.1843|0.175|0.1886|0.2537|0.2314|0.129|0.2153|0.1005|0.2365|0.2025|0.1609|0.1876|0.1691|0.2537|gnomADg_AFR||0&1|0&1|22864933|||||||||,G|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding||||||||||rs10907177&COSV53881062|1224|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21||||||||0.1789|0.239|0.1311|0.122|0.1809|0.1881|0.1657|0.2517|0.0973|0.2162|0.09526|0.2382|0.1639|0.1843|0.175|0.1886|0.2537|0.2314|0.129|0.2153|0.1005|0.2365|0.2025|0.1609|0.1876|0.1691|0.2537|gnomADg_AFR||0&1|0&1|22864933|||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,G|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay|7/10||ENST00000477196.5:c.*1006T>C||1468|||||rs10907177&COSV53881062||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||0.1789|0.239|0.1311|0.122|0.1809|0.1881|0.1657|0.2517|0.0973|0.2162|0.09526|0.2382|0.1639|0.1843|0.175|0.1886|0.2537|0.2314|0.129|0.2153|0.1005|0.2365|0.2025|0.1609|0.1876|0.1691|0.2537|gnomADg_AFR||0&1|0&1|22864933|||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,G|non_coding_transcript_exon_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined|7/10||ENST00000482816.5:n.676T>C||676|||||rs10907177&COSV53881062||-1||SNV|HGNC|HGNC:26062||||5||||||||||||||0.1789|0.239|0.1311|0.122|0.1809|0.1881|0.1657|0.2517|0.0973|0.2162|0.09526|0.2382|0.1639|0.1843|0.175|0.1886|0.2537|0.2314|0.129|0.2153|0.1005|0.2365|0.2025|0.1609|0.1876|0.1691|0.2537|gnomADg_AFR||0&1|0&1|22864933|||||||||,G|non_coding_transcript_exon_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000487177|retained_intron|2/3||ENST00000487177.5:n.545T>C||545|||||rs10907177&COSV53881062||-1||SNV|HGNC|HGNC:26062||||2||||||||||||||0.1789|0.239|0.1311|0.122|0.1809|0.1881|0.1657|0.2517|0.0973|0.2162|0.09526|0.2382|0.1639|0.1843|0.175|0.1886|0.2537|0.2314|0.129|0.2153|0.1005|0.2365|0.2025|0.1609|0.1876|0.1691|0.2537|gnomADg_AFR||0&1|0&1|22864933||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,4:0.5:8:0,0:2,2:2,2:2,2,2,2 -chr1 1090943 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C2|1%2C1;DP=6;ECNT=1;GERMQ=38;MBQ=25,34;MFRL=0,0;MMQ=60,60;MPOS=75;POPAF=7.3;TLOD=6.67;SRC=snv;GRP=s001;CSQ=C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379319|protein_coding||3/9|ENST00000379319.5:c.73-515A>G|||||||||-1||SNV|HGNC|HGNC:26062||||5|P1|CCDS7.2|ENSP00000368623|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379320|protein_coding||1/7|ENST00000379320.5:c.73-515A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2||CCDS85917.1|ENSP00000368624||Q5T2W9.107|UPI0000205ACE||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay||3/10|ENST00000379325.7:c.73-515A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,C|missense_variant|MODERATE|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding|5/12||ENST00000379339.5:c.113A>G|ENSP00000368644.1:p.Glu38Gly|324|113|38|E/G|gAg/gGg|||-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1||tolerated_low_confidence(0.43)|unknown(0)||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding||3/9|ENST00000421241.7:c.73-515A>G|||||||||-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000427787|protein_coding||4/4|ENST00000427787.5:c.169+335A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000395935||B2REC5.64|UPI000173DCFE||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLC||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||3/10|ENST00000434641.5:c.73-515A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000442117|protein_coding||3/4|ENST00000442117.5:c.73-515A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000416740||B2REC4.74|UPI000173DCFD||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNA||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding||4/6|ENST00000462097.5:c.73-515A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,C|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000465822|retained_intron||2/8|ENST00000465822.5:n.182-515A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay||4/11|ENST00000467751.5:c.169+335A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,C|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000472741|retained_intron|||||||||||103|-1||SNV|HGNC|HGNC:26062||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000473600|retained_intron||2/4|ENST00000473600.1:n.399-356A>G|||||||||-1||SNV|HGNC|HGNC:26062||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding||3/5|ENST00000475119.5:c.73-515A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,C|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay|4/10||ENST00000477196.5:c.*207A>G||669|||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,C|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000480643|protein_coding|||||||||||557|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||4|||ENSP00000464657||J3QSF0.36|UPI0003F48015||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLV||,C|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||3/9|ENST00000482816.5:n.392-515A>G|||||||||-1||SNV|HGNC|HGNC:26062||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000487177|retained_intron|||||||||||3307|-1||SNV|HGNC|HGNC:26062||||2|||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,2:0.4:5:0,0:1,1:2,1:1,2,1,1 -chr1 1091421 . T A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=104;POPAF=7.3;TLOD=7.15;SRC=snv;GRP=s001;CSQ=A|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379319|protein_coding||3/9|ENST00000379319.5:c.72+51A>T|||||||rs4562563||-1||SNV|HGNC|HGNC:26062||||5|P1|CCDS7.2|ENSP00000368623|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||0.6266|0.3411|0.7277|0.8879|0.5944|0.7045|0.6674|0.4078|0.7836|0.6524|0.9028|0.6323|0.6053|0.6433|0.705|0.5775|0.4157|0.6151|0.6819|0.6449|0.8907|0.6419|0.5253|0.6056|0.5865|0.709|0.9028|gnomADe_EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,A|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379320|protein_coding||1/7|ENST00000379320.5:c.72+51A>T|||||||rs4562563||-1||SNV|HGNC|HGNC:26062||||2||CCDS85917.1|ENSP00000368624||Q5T2W9.107|UPI0000205ACE||||||||0.6266|0.3411|0.7277|0.8879|0.5944|0.7045|0.6674|0.4078|0.7836|0.6524|0.9028|0.6323|0.6053|0.6433|0.705|0.5775|0.4157|0.6151|0.6819|0.6449|0.8907|0.6419|0.5253|0.6056|0.5865|0.709|0.9028|gnomADe_EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,A|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay||3/10|ENST00000379325.7:c.72+51A>T|||||||rs4562563||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||0.6266|0.3411|0.7277|0.8879|0.5944|0.7045|0.6674|0.4078|0.7836|0.6524|0.9028|0.6323|0.6053|0.6433|0.705|0.5775|0.4157|0.6151|0.6819|0.6449|0.8907|0.6419|0.5253|0.6056|0.5865|0.709|0.9028|gnomADe_EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,A|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding||4/11|ENST00000379339.5:c.72+51A>T|||||||rs4562563||-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||0.6266|0.3411|0.7277|0.8879|0.5944|0.7045|0.6674|0.4078|0.7836|0.6524|0.9028|0.6323|0.6053|0.6433|0.705|0.5775|0.4157|0.6151|0.6819|0.6449|0.8907|0.6419|0.5253|0.6056|0.5865|0.709|0.9028|gnomADe_EAS|||||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,A|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding||3/9|ENST00000421241.7:c.72+51A>T|||||||rs4562563||-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||0.6266|0.3411|0.7277|0.8879|0.5944|0.7045|0.6674|0.4078|0.7836|0.6524|0.9028|0.6323|0.6053|0.6433|0.705|0.5775|0.4157|0.6151|0.6819|0.6449|0.8907|0.6419|0.5253|0.6056|0.5865|0.709|0.9028|gnomADe_EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,A|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000427787|protein_coding||3/4|ENST00000427787.5:c.73-47A>T|||||||rs4562563||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000395935||B2REC5.64|UPI000173DCFE||||||||0.6266|0.3411|0.7277|0.8879|0.5944|0.7045|0.6674|0.4078|0.7836|0.6524|0.9028|0.6323|0.6053|0.6433|0.705|0.5775|0.4157|0.6151|0.6819|0.6449|0.8907|0.6419|0.5253|0.6056|0.5865|0.709|0.9028|gnomADe_EAS|||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLC||,A|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||3/10|ENST00000434641.5:c.72+51A>T|||||||rs4562563||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||0.6266|0.3411|0.7277|0.8879|0.5944|0.7045|0.6674|0.4078|0.7836|0.6524|0.9028|0.6323|0.6053|0.6433|0.705|0.5775|0.4157|0.6151|0.6819|0.6449|0.8907|0.6419|0.5253|0.6056|0.5865|0.709|0.9028|gnomADe_EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,A|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000442117|protein_coding||3/4|ENST00000442117.5:c.72+51A>T|||||||rs4562563||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000416740||B2REC4.74|UPI000173DCFD||||||||0.6266|0.3411|0.7277|0.8879|0.5944|0.7045|0.6674|0.4078|0.7836|0.6524|0.9028|0.6323|0.6053|0.6433|0.705|0.5775|0.4157|0.6151|0.6819|0.6449|0.8907|0.6419|0.5253|0.6056|0.5865|0.709|0.9028|gnomADe_EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNA||,A|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding||4/6|ENST00000462097.5:c.72+51A>T|||||||rs4562563||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20||||||||0.6266|0.3411|0.7277|0.8879|0.5944|0.7045|0.6674|0.4078|0.7836|0.6524|0.9028|0.6323|0.6053|0.6433|0.705|0.5775|0.4157|0.6151|0.6819|0.6449|0.8907|0.6419|0.5253|0.6056|0.5865|0.709|0.9028|gnomADe_EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,A|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000465822|retained_intron||2/8|ENST00000465822.5:n.181+51A>T|||||||rs4562563||-1||SNV|HGNC|HGNC:26062||||2||||||||||||||0.6266|0.3411|0.7277|0.8879|0.5944|0.7045|0.6674|0.4078|0.7836|0.6524|0.9028|0.6323|0.6053|0.6433|0.705|0.5775|0.4157|0.6151|0.6819|0.6449|0.8907|0.6419|0.5253|0.6056|0.5865|0.709|0.9028|gnomADe_EAS|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay||3/11|ENST00000467751.5:c.73-47A>T|||||||rs4562563||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||0.6266|0.3411|0.7277|0.8879|0.5944|0.7045|0.6674|0.4078|0.7836|0.6524|0.9028|0.6323|0.6053|0.6433|0.705|0.5775|0.4157|0.6151|0.6819|0.6449|0.8907|0.6419|0.5253|0.6056|0.5865|0.709|0.9028|gnomADe_EAS|||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,A|non_coding_transcript_exon_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000472741|retained_intron|3/3||ENST00000472741.5:n.286A>T||286|||||rs4562563||-1||SNV|HGNC|HGNC:26062||||4||||||||||||||0.6266|0.3411|0.7277|0.8879|0.5944|0.7045|0.6674|0.4078|0.7836|0.6524|0.9028|0.6323|0.6053|0.6433|0.705|0.5775|0.4157|0.6151|0.6819|0.6449|0.8907|0.6419|0.5253|0.6056|0.5865|0.709|0.9028|gnomADe_EAS|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000473600|retained_intron||2/4|ENST00000473600.1:n.398+51A>T|||||||rs4562563||-1||SNV|HGNC|HGNC:26062||||3||||||||||||||0.6266|0.3411|0.7277|0.8879|0.5944|0.7045|0.6674|0.4078|0.7836|0.6524|0.9028|0.6323|0.6053|0.6433|0.705|0.5775|0.4157|0.6151|0.6819|0.6449|0.8907|0.6419|0.5253|0.6056|0.5865|0.709|0.9028|gnomADe_EAS|||||||||||||,A|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding||3/5|ENST00000475119.5:c.72+51A>T|||||||rs4562563||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21||||||||0.6266|0.3411|0.7277|0.8879|0.5944|0.7045|0.6674|0.4078|0.7836|0.6524|0.9028|0.6323|0.6053|0.6433|0.705|0.5775|0.4157|0.6151|0.6819|0.6449|0.8907|0.6419|0.5253|0.6056|0.5865|0.709|0.9028|gnomADe_EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,A|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay||3/9|ENST00000477196.5:c.73-47A>T|||||||rs4562563||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||0.6266|0.3411|0.7277|0.8879|0.5944|0.7045|0.6674|0.4078|0.7836|0.6524|0.9028|0.6323|0.6053|0.6433|0.705|0.5775|0.4157|0.6151|0.6819|0.6449|0.8907|0.6419|0.5253|0.6056|0.5865|0.709|0.9028|gnomADe_EAS|||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,A|downstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000480643|protein_coding||||||||||rs4562563|79|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||4|||ENSP00000464657||J3QSF0.36|UPI0003F48015||||||||0.6266|0.3411|0.7277|0.8879|0.5944|0.7045|0.6674|0.4078|0.7836|0.6524|0.9028|0.6323|0.6053|0.6433|0.705|0.5775|0.4157|0.6151|0.6819|0.6449|0.8907|0.6419|0.5253|0.6056|0.5865|0.709|0.9028|gnomADe_EAS|||||||||||MALRHLALLAGLLV||,A|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||3/9|ENST00000482816.5:n.391+51A>T|||||||rs4562563||-1||SNV|HGNC|HGNC:26062||||5||||||||||||||0.6266|0.3411|0.7277|0.8879|0.5944|0.7045|0.6674|0.4078|0.7836|0.6524|0.9028|0.6323|0.6053|0.6433|0.705|0.5775|0.4157|0.6151|0.6819|0.6449|0.8907|0.6419|0.5253|0.6056|0.5865|0.709|0.9028|gnomADe_EAS|||||||||||||,A|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000487177|retained_intron||||||||||rs4562563|3785|-1||SNV|HGNC|HGNC:26062||||2||||||||||||||0.6266|0.3411|0.7277|0.8879|0.5944|0.7045|0.6674|0.4078|0.7836|0.6524|0.9028|0.6323|0.6053|0.6433|0.705|0.5775|0.4157|0.6151|0.6819|0.6449|0.8907|0.6419|0.5253|0.6056|0.5865|0.709|0.9028|gnomADe_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1094198 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C2;DP=5;ECNT=1;GERMQ=55;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=100;POPAF=7.3;TLOD=17.48;SRC=snv;GRP=s001;CSQ=T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379319|protein_coding||1/9|ENST00000379319.5:c.-135-2095G>A|||||||rs979730694||-1||SNV|HGNC|HGNC:26062||||5|P1|CCDS7.2|ENSP00000368623|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4||||||||||||||||||||||1.322e-05|2.436e-05|0|0|0|0|0|0|1.473e-05|0|0|2.436e-05|gnomADg_AFR|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379320|protein_coding||||||||||rs979730694|2024|-1||SNV|HGNC|HGNC:26062||||2||CCDS85917.1|ENSP00000368624||Q5T2W9.107|UPI0000205ACE|||||||||||||||||||||||1.322e-05|2.436e-05|0|0|0|0|0|0|1.473e-05|0|0|2.436e-05|gnomADg_AFR|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay||1/10|ENST00000379325.7:c.-135-2095G>A|||||||rs979730694||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3||||||||||||||||||||||1.322e-05|2.436e-05|0|0|0|0|0|0|1.473e-05|0|0|2.436e-05|gnomADg_AFR|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding||2/11|ENST00000379339.5:c.-135-2095G>A|||||||rs979730694||-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1||||||||||||||||||||||1.322e-05|2.436e-05|0|0|0|0|0|0|1.473e-05|0|0|2.436e-05|gnomADg_AFR|||||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding||1/9|ENST00000421241.7:c.-135-2095G>A|||||||rs979730694||-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4||||||||||||||||||||||1.322e-05|2.436e-05|0|0|0|0|0|0|1.473e-05|0|0|2.436e-05|gnomADg_AFR|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000427787|protein_coding||||||||||rs979730694|1385|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000395935||B2REC5.64|UPI000173DCFE|||||||||||||||||||||||1.322e-05|2.436e-05|0|0|0|0|0|0|1.473e-05|0|0|2.436e-05|gnomADg_AFR|||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLC||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||1/10|ENST00000434641.5:c.-135-2095G>A|||||||rs979730694||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17|||||||||||||||||||||||1.322e-05|2.436e-05|0|0|0|0|0|0|1.473e-05|0|0|2.436e-05|gnomADg_AFR|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,T|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000442117|protein_coding||||||||||rs979730694|1385|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000416740||B2REC4.74|UPI000173DCFD|||||||||||||||||||||||1.322e-05|2.436e-05|0|0|0|0|0|0|1.473e-05|0|0|2.436e-05|gnomADg_AFR|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNA||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding||2/6|ENST00000462097.5:c.-135-2095G>A|||||||rs979730694||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20|||||||||||||||||||||||1.322e-05|2.436e-05|0|0|0|0|0|0|1.473e-05|0|0|2.436e-05|gnomADg_AFR|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,T|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000465822|retained_intron||||||||||rs979730694|2121|-1||SNV|HGNC|HGNC:26062||||2|||||||||||||||||||||||||||||1.322e-05|2.436e-05|0|0|0|0|0|0|1.473e-05|0|0|2.436e-05|gnomADg_AFR|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay||1/11|ENST00000467751.5:c.-135-2095G>A|||||||rs979730694||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB|||||||||||||||||||||||1.322e-05|2.436e-05|0|0|0|0|0|0|1.473e-05|0|0|2.436e-05|gnomADg_AFR|||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,T|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000472741|retained_intron||1/2|ENST00000472741.5:n.29-2095G>A|||||||rs979730694||-1||SNV|HGNC|HGNC:26062||||4|||||||||||||||||||||||||||||1.322e-05|2.436e-05|0|0|0|0|0|0|1.473e-05|0|0|2.436e-05|gnomADg_AFR|||||||||||||,T|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000473600|retained_intron||||||||||rs979730694|1904|-1||SNV|HGNC|HGNC:26062||||3|||||||||||||||||||||||||||||1.322e-05|2.436e-05|0|0|0|0|0|0|1.473e-05|0|0|2.436e-05|gnomADg_AFR|||||||||||||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding||1/5|ENST00000475119.5:c.-179-2095G>A|||||||rs979730694||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21|||||||||||||||||||||||1.322e-05|2.436e-05|0|0|0|0|0|0|1.473e-05|0|0|2.436e-05|gnomADg_AFR|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,T|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay||1/9|ENST00000477196.5:c.-135-2095G>A|||||||rs979730694||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028|||||||||||||||||||||||1.322e-05|2.436e-05|0|0|0|0|0|0|1.473e-05|0|0|2.436e-05|gnomADg_AFR|||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000480643|protein_coding||4/5|ENST00000480643.1:c.-135-2095G>A|||||||rs979730694||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||4|||ENSP00000464657||J3QSF0.36|UPI0003F48015|||||||||||||||||||||||1.322e-05|2.436e-05|0|0|0|0|0|0|1.473e-05|0|0|2.436e-05|gnomADg_AFR|||||||||||MALRHLALLAGLLV||,T|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||1/9|ENST00000482816.5:n.185-2095G>A|||||||rs979730694||-1||SNV|HGNC|HGNC:26062||||5|||||||||||||||||||||||||||||1.322e-05|2.436e-05|0|0|0|0|0|0|1.473e-05|0|0|2.436e-05|gnomADg_AFR|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000285812|Transcript|ENST00000648183|lncRNA||||||||||rs979730694|3387|1||SNV|||YES||||||||||||||||||||||||||||||||1.322e-05|2.436e-05|0|0|0|0|0|0|1.473e-05|0|0|2.436e-05|gnomADg_AFR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.8:5:0,0:0,3:0,3:0,0,3,2 -chr1 1095185 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4%2C3|1%2C1;DP=9;ECNT=2;GERMQ=43;MBQ=31,32;MFRL=0,0;MMQ=60,60;MPOS=9;POPAF=7.3;TLOD=5.78;SRC=snv;GRP=s001;CSQ=T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379319|protein_coding||1/9|ENST00000379319.5:c.-135-3082G>A|||||||rs6687776||-1||SNV|HGNC|HGNC:26062||||5|P1|CCDS7.2|ENSP00000368623|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||0.3067|0.6036|0.1859|0.1875|0.166|0.2587||||||||||0.2694|0.5059|0.1264|0.2092|0.2021|0.1878|0.2188|0.2278|0.1618|0.2596|0.2338|0.6036|AFR||||20964851|||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379320|protein_coding||||||||||rs6687776|3011|-1||SNV|HGNC|HGNC:26062||||2||CCDS85917.1|ENSP00000368624||Q5T2W9.107|UPI0000205ACE||||||||0.3067|0.6036|0.1859|0.1875|0.166|0.2587||||||||||0.2694|0.5059|0.1264|0.2092|0.2021|0.1878|0.2188|0.2278|0.1618|0.2596|0.2338|0.6036|AFR||||20964851|||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay||1/10|ENST00000379325.7:c.-135-3082G>A|||||||rs6687776||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||0.3067|0.6036|0.1859|0.1875|0.166|0.2587||||||||||0.2694|0.5059|0.1264|0.2092|0.2021|0.1878|0.2188|0.2278|0.1618|0.2596|0.2338|0.6036|AFR||||20964851|||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding||2/11|ENST00000379339.5:c.-135-3082G>A|||||||rs6687776||-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||0.3067|0.6036|0.1859|0.1875|0.166|0.2587||||||||||0.2694|0.5059|0.1264|0.2092|0.2021|0.1878|0.2188|0.2278|0.1618|0.2596|0.2338|0.6036|AFR||||20964851|||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding||1/9|ENST00000421241.7:c.-135-3082G>A|||||||rs6687776||-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||0.3067|0.6036|0.1859|0.1875|0.166|0.2587||||||||||0.2694|0.5059|0.1264|0.2092|0.2021|0.1878|0.2188|0.2278|0.1618|0.2596|0.2338|0.6036|AFR||||20964851|||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000427787|protein_coding||||||||||rs6687776|2372|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000395935||B2REC5.64|UPI000173DCFE||||||||0.3067|0.6036|0.1859|0.1875|0.166|0.2587||||||||||0.2694|0.5059|0.1264|0.2092|0.2021|0.1878|0.2188|0.2278|0.1618|0.2596|0.2338|0.6036|AFR||||20964851|||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLC||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||1/10|ENST00000434641.5:c.-135-3082G>A|||||||rs6687776||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||0.3067|0.6036|0.1859|0.1875|0.166|0.2587||||||||||0.2694|0.5059|0.1264|0.2092|0.2021|0.1878|0.2188|0.2278|0.1618|0.2596|0.2338|0.6036|AFR||||20964851|||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,T|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000442117|protein_coding||||||||||rs6687776|2372|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000416740||B2REC4.74|UPI000173DCFD||||||||0.3067|0.6036|0.1859|0.1875|0.166|0.2587||||||||||0.2694|0.5059|0.1264|0.2092|0.2021|0.1878|0.2188|0.2278|0.1618|0.2596|0.2338|0.6036|AFR||||20964851|||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNA||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding||2/6|ENST00000462097.5:c.-135-3082G>A|||||||rs6687776||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20||||||||0.3067|0.6036|0.1859|0.1875|0.166|0.2587||||||||||0.2694|0.5059|0.1264|0.2092|0.2021|0.1878|0.2188|0.2278|0.1618|0.2596|0.2338|0.6036|AFR||||20964851|||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,T|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000465822|retained_intron||||||||||rs6687776|3108|-1||SNV|HGNC|HGNC:26062||||2||||||||||||||0.3067|0.6036|0.1859|0.1875|0.166|0.2587||||||||||0.2694|0.5059|0.1264|0.2092|0.2021|0.1878|0.2188|0.2278|0.1618|0.2596|0.2338|0.6036|AFR||||20964851|||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay||1/11|ENST00000467751.5:c.-135-3082G>A|||||||rs6687776||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||0.3067|0.6036|0.1859|0.1875|0.166|0.2587||||||||||0.2694|0.5059|0.1264|0.2092|0.2021|0.1878|0.2188|0.2278|0.1618|0.2596|0.2338|0.6036|AFR||||20964851|||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,T|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000472741|retained_intron||1/2|ENST00000472741.5:n.29-3082G>A|||||||rs6687776||-1||SNV|HGNC|HGNC:26062||||4||||||||||||||0.3067|0.6036|0.1859|0.1875|0.166|0.2587||||||||||0.2694|0.5059|0.1264|0.2092|0.2021|0.1878|0.2188|0.2278|0.1618|0.2596|0.2338|0.6036|AFR||||20964851|||||||||,T|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000473600|retained_intron||||||||||rs6687776|2891|-1||SNV|HGNC|HGNC:26062||||3||||||||||||||0.3067|0.6036|0.1859|0.1875|0.166|0.2587||||||||||0.2694|0.5059|0.1264|0.2092|0.2021|0.1878|0.2188|0.2278|0.1618|0.2596|0.2338|0.6036|AFR||||20964851|||||||||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding||1/5|ENST00000475119.5:c.-179-3082G>A|||||||rs6687776||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21||||||||0.3067|0.6036|0.1859|0.1875|0.166|0.2587||||||||||0.2694|0.5059|0.1264|0.2092|0.2021|0.1878|0.2188|0.2278|0.1618|0.2596|0.2338|0.6036|AFR||||20964851|||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,T|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay||1/9|ENST00000477196.5:c.-135-3082G>A|||||||rs6687776||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||0.3067|0.6036|0.1859|0.1875|0.166|0.2587||||||||||0.2694|0.5059|0.1264|0.2092|0.2021|0.1878|0.2188|0.2278|0.1618|0.2596|0.2338|0.6036|AFR||||20964851|||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000480643|protein_coding||4/5|ENST00000480643.1:c.-135-3082G>A|||||||rs6687776||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||4|||ENSP00000464657||J3QSF0.36|UPI0003F48015||||||||0.3067|0.6036|0.1859|0.1875|0.166|0.2587||||||||||0.2694|0.5059|0.1264|0.2092|0.2021|0.1878|0.2188|0.2278|0.1618|0.2596|0.2338|0.6036|AFR||||20964851|||||||MALRHLALLAGLLV||,T|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||1/9|ENST00000482816.5:n.185-3082G>A|||||||rs6687776||-1||SNV|HGNC|HGNC:26062||||5||||||||||||||0.3067|0.6036|0.1859|0.1875|0.166|0.2587||||||||||0.2694|0.5059|0.1264|0.2092|0.2021|0.1878|0.2188|0.2278|0.1618|0.2596|0.2338|0.6036|AFR||||20964851|||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000285812|Transcript|ENST00000648183|lncRNA||||||||||rs6687776|2400|1||SNV|||YES|||||||||||||||||0.3067|0.6036|0.1859|0.1875|0.166|0.2587||||||||||0.2694|0.5059|0.1264|0.2092|0.2021|0.1878|0.2188|0.2278|0.1618|0.2596|0.2338|0.6036|AFR||||20964851||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,2:0.286:9:0,0:4,1:4,1:4,3,1,1 -chr1 1096160 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C2;DP=6;ECNT=1;GERMQ=58;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=60;POPAF=7.3;TLOD=22.56;SRC=snv;GRP=s001;CSQ=G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379319|protein_coding||1/9|ENST00000379319.5:c.-135-4057T>C|||||||rs9651273||-1||SNV|HGNC|HGNC:26062||||5|P1|CCDS7.2|ENSP00000368623|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||0.8820|0.9478|0.8602|0.9881|0.7276|0.8579||||||||||0.8116|0.9332|0.7336|0.8436|0.7969|0.9786|0.7569|0.693|0.7263|0.8045|0.8468|0.9881|EAS||||20964851&19176549|||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,G|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379320|protein_coding||||||||||rs9651273|3986|-1||SNV|HGNC|HGNC:26062||||2||CCDS85917.1|ENSP00000368624||Q5T2W9.107|UPI0000205ACE||||||||0.8820|0.9478|0.8602|0.9881|0.7276|0.8579||||||||||0.8116|0.9332|0.7336|0.8436|0.7969|0.9786|0.7569|0.693|0.7263|0.8045|0.8468|0.9881|EAS||||20964851&19176549|||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,G|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay||1/10|ENST00000379325.7:c.-135-4057T>C|||||||rs9651273||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||0.8820|0.9478|0.8602|0.9881|0.7276|0.8579||||||||||0.8116|0.9332|0.7336|0.8436|0.7969|0.9786|0.7569|0.693|0.7263|0.8045|0.8468|0.9881|EAS||||20964851&19176549|||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding||2/11|ENST00000379339.5:c.-135-4057T>C|||||||rs9651273||-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||0.8820|0.9478|0.8602|0.9881|0.7276|0.8579||||||||||0.8116|0.9332|0.7336|0.8436|0.7969|0.9786|0.7569|0.693|0.7263|0.8045|0.8468|0.9881|EAS||||20964851&19176549|||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding||1/9|ENST00000421241.7:c.-135-4057T>C|||||||rs9651273||-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||0.8820|0.9478|0.8602|0.9881|0.7276|0.8579||||||||||0.8116|0.9332|0.7336|0.8436|0.7969|0.9786|0.7569|0.693|0.7263|0.8045|0.8468|0.9881|EAS||||20964851&19176549|||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,G|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000427787|protein_coding||||||||||rs9651273|3347|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000395935||B2REC5.64|UPI000173DCFE||||||||0.8820|0.9478|0.8602|0.9881|0.7276|0.8579||||||||||0.8116|0.9332|0.7336|0.8436|0.7969|0.9786|0.7569|0.693|0.7263|0.8045|0.8468|0.9881|EAS||||20964851&19176549|||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLC||,G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||1/10|ENST00000434641.5:c.-135-4057T>C|||||||rs9651273||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||0.8820|0.9478|0.8602|0.9881|0.7276|0.8579||||||||||0.8116|0.9332|0.7336|0.8436|0.7969|0.9786|0.7569|0.693|0.7263|0.8045|0.8468|0.9881|EAS||||20964851&19176549|||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,G|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000442117|protein_coding||||||||||rs9651273|3347|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000416740||B2REC4.74|UPI000173DCFD||||||||0.8820|0.9478|0.8602|0.9881|0.7276|0.8579||||||||||0.8116|0.9332|0.7336|0.8436|0.7969|0.9786|0.7569|0.693|0.7263|0.8045|0.8468|0.9881|EAS||||20964851&19176549|||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNA||,G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding||2/6|ENST00000462097.5:c.-135-4057T>C|||||||rs9651273||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20||||||||0.8820|0.9478|0.8602|0.9881|0.7276|0.8579||||||||||0.8116|0.9332|0.7336|0.8436|0.7969|0.9786|0.7569|0.693|0.7263|0.8045|0.8468|0.9881|EAS||||20964851&19176549|||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,G|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000465822|retained_intron||||||||||rs9651273|4083|-1||SNV|HGNC|HGNC:26062||||2||||||||||||||0.8820|0.9478|0.8602|0.9881|0.7276|0.8579||||||||||0.8116|0.9332|0.7336|0.8436|0.7969|0.9786|0.7569|0.693|0.7263|0.8045|0.8468|0.9881|EAS||||20964851&19176549|||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay||1/11|ENST00000467751.5:c.-135-4057T>C|||||||rs9651273||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||0.8820|0.9478|0.8602|0.9881|0.7276|0.8579||||||||||0.8116|0.9332|0.7336|0.8436|0.7969|0.9786|0.7569|0.693|0.7263|0.8045|0.8468|0.9881|EAS||||20964851&19176549|||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,G|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000472741|retained_intron||1/2|ENST00000472741.5:n.29-4057T>C|||||||rs9651273||-1||SNV|HGNC|HGNC:26062||||4||||||||||||||0.8820|0.9478|0.8602|0.9881|0.7276|0.8579||||||||||0.8116|0.9332|0.7336|0.8436|0.7969|0.9786|0.7569|0.693|0.7263|0.8045|0.8468|0.9881|EAS||||20964851&19176549|||||||||,G|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000473600|retained_intron||||||||||rs9651273|3866|-1||SNV|HGNC|HGNC:26062||||3||||||||||||||0.8820|0.9478|0.8602|0.9881|0.7276|0.8579||||||||||0.8116|0.9332|0.7336|0.8436|0.7969|0.9786|0.7569|0.693|0.7263|0.8045|0.8468|0.9881|EAS||||20964851&19176549|||||||||,G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding||1/5|ENST00000475119.5:c.-179-4057T>C|||||||rs9651273||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21||||||||0.8820|0.9478|0.8602|0.9881|0.7276|0.8579||||||||||0.8116|0.9332|0.7336|0.8436|0.7969|0.9786|0.7569|0.693|0.7263|0.8045|0.8468|0.9881|EAS||||20964851&19176549|||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,G|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay||1/9|ENST00000477196.5:c.-135-4057T>C|||||||rs9651273||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||0.8820|0.9478|0.8602|0.9881|0.7276|0.8579||||||||||0.8116|0.9332|0.7336|0.8436|0.7969|0.9786|0.7569|0.693|0.7263|0.8045|0.8468|0.9881|EAS||||20964851&19176549|||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000480643|protein_coding||4/5|ENST00000480643.1:c.-135-4057T>C|||||||rs9651273||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||4|||ENSP00000464657||J3QSF0.36|UPI0003F48015||||||||0.8820|0.9478|0.8602|0.9881|0.7276|0.8579||||||||||0.8116|0.9332|0.7336|0.8436|0.7969|0.9786|0.7569|0.693|0.7263|0.8045|0.8468|0.9881|EAS||||20964851&19176549|||||||MALRHLALLAGLLV||,G|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||1/9|ENST00000482816.5:n.185-4057T>C|||||||rs9651273||-1||SNV|HGNC|HGNC:26062||||5||||||||||||||0.8820|0.9478|0.8602|0.9881|0.7276|0.8579||||||||||0.8116|0.9332|0.7336|0.8436|0.7969|0.9786|0.7569|0.693|0.7263|0.8045|0.8468|0.9881|EAS||||20964851&19176549|||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000285812|Transcript|ENST00000648183|lncRNA||||||||||rs9651273|1425|1||SNV|||YES|||||||||||||||||0.8820|0.9478|0.8602|0.9881|0.7276|0.8579||||||||||0.8116|0.9332|0.7336|0.8436|0.7969|0.9786|0.7569|0.693|0.7263|0.8045|0.8468|0.9881|EAS||||20964851&19176549||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.833:6:0,0:0,4:0,4:0,0,4,2 -chr1 1096593 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C1;DP=4;ECNT=1;GERMQ=37;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=65;POPAF=7.3;TLOD=6.78;SRC=snv;GRP=s001;CSQ=T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379319|protein_coding||1/9|ENST00000379319.5:c.-135-4490G>A|||||||rs9651270||-1||SNV|HGNC|HGNC:26062||||5|P1|CCDS7.2|ENSP00000368623|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||0.3107|0.6029|0.1902|0.1885|0.167|0.2751||||||||||0.2707|0.5073|0.1283|0.2105|0.2037|0.189|0.2185|0.2405|0.1626|0.2634|0.2419|0.6029|AFR|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379320|protein_coding||||||||||rs9651270|4419|-1||SNV|HGNC|HGNC:26062||||2||CCDS85917.1|ENSP00000368624||Q5T2W9.107|UPI0000205ACE||||||||0.3107|0.6029|0.1902|0.1885|0.167|0.2751||||||||||0.2707|0.5073|0.1283|0.2105|0.2037|0.189|0.2185|0.2405|0.1626|0.2634|0.2419|0.6029|AFR|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay||1/10|ENST00000379325.7:c.-135-4490G>A|||||||rs9651270||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||0.3107|0.6029|0.1902|0.1885|0.167|0.2751||||||||||0.2707|0.5073|0.1283|0.2105|0.2037|0.189|0.2185|0.2405|0.1626|0.2634|0.2419|0.6029|AFR|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding||2/11|ENST00000379339.5:c.-135-4490G>A|||||||rs9651270||-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||0.3107|0.6029|0.1902|0.1885|0.167|0.2751||||||||||0.2707|0.5073|0.1283|0.2105|0.2037|0.189|0.2185|0.2405|0.1626|0.2634|0.2419|0.6029|AFR|||||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding||1/9|ENST00000421241.7:c.-135-4490G>A|||||||rs9651270||-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||0.3107|0.6029|0.1902|0.1885|0.167|0.2751||||||||||0.2707|0.5073|0.1283|0.2105|0.2037|0.189|0.2185|0.2405|0.1626|0.2634|0.2419|0.6029|AFR|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000427787|protein_coding||||||||||rs9651270|3780|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000395935||B2REC5.64|UPI000173DCFE||||||||0.3107|0.6029|0.1902|0.1885|0.167|0.2751||||||||||0.2707|0.5073|0.1283|0.2105|0.2037|0.189|0.2185|0.2405|0.1626|0.2634|0.2419|0.6029|AFR|||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLC||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||1/10|ENST00000434641.5:c.-135-4490G>A|||||||rs9651270||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||0.3107|0.6029|0.1902|0.1885|0.167|0.2751||||||||||0.2707|0.5073|0.1283|0.2105|0.2037|0.189|0.2185|0.2405|0.1626|0.2634|0.2419|0.6029|AFR|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,T|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000442117|protein_coding||||||||||rs9651270|3780|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000416740||B2REC4.74|UPI000173DCFD||||||||0.3107|0.6029|0.1902|0.1885|0.167|0.2751||||||||||0.2707|0.5073|0.1283|0.2105|0.2037|0.189|0.2185|0.2405|0.1626|0.2634|0.2419|0.6029|AFR|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNA||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding||2/6|ENST00000462097.5:c.-135-4490G>A|||||||rs9651270||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20||||||||0.3107|0.6029|0.1902|0.1885|0.167|0.2751||||||||||0.2707|0.5073|0.1283|0.2105|0.2037|0.189|0.2185|0.2405|0.1626|0.2634|0.2419|0.6029|AFR|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,T|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000465822|retained_intron||||||||||rs9651270|4516|-1||SNV|HGNC|HGNC:26062||||2||||||||||||||0.3107|0.6029|0.1902|0.1885|0.167|0.2751||||||||||0.2707|0.5073|0.1283|0.2105|0.2037|0.189|0.2185|0.2405|0.1626|0.2634|0.2419|0.6029|AFR|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay||1/11|ENST00000467751.5:c.-135-4490G>A|||||||rs9651270||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||0.3107|0.6029|0.1902|0.1885|0.167|0.2751||||||||||0.2707|0.5073|0.1283|0.2105|0.2037|0.189|0.2185|0.2405|0.1626|0.2634|0.2419|0.6029|AFR|||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,T|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000472741|retained_intron||1/2|ENST00000472741.5:n.29-4490G>A|||||||rs9651270||-1||SNV|HGNC|HGNC:26062||||4||||||||||||||0.3107|0.6029|0.1902|0.1885|0.167|0.2751||||||||||0.2707|0.5073|0.1283|0.2105|0.2037|0.189|0.2185|0.2405|0.1626|0.2634|0.2419|0.6029|AFR|||||||||||||,T|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000473600|retained_intron||||||||||rs9651270|4299|-1||SNV|HGNC|HGNC:26062||||3||||||||||||||0.3107|0.6029|0.1902|0.1885|0.167|0.2751||||||||||0.2707|0.5073|0.1283|0.2105|0.2037|0.189|0.2185|0.2405|0.1626|0.2634|0.2419|0.6029|AFR|||||||||||||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding||1/5|ENST00000475119.5:c.-179-4490G>A|||||||rs9651270||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21||||||||0.3107|0.6029|0.1902|0.1885|0.167|0.2751||||||||||0.2707|0.5073|0.1283|0.2105|0.2037|0.189|0.2185|0.2405|0.1626|0.2634|0.2419|0.6029|AFR|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,T|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay||1/9|ENST00000477196.5:c.-135-4490G>A|||||||rs9651270||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||0.3107|0.6029|0.1902|0.1885|0.167|0.2751||||||||||0.2707|0.5073|0.1283|0.2105|0.2037|0.189|0.2185|0.2405|0.1626|0.2634|0.2419|0.6029|AFR|||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000480643|protein_coding||4/5|ENST00000480643.1:c.-135-4490G>A|||||||rs9651270||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||4|||ENSP00000464657||J3QSF0.36|UPI0003F48015||||||||0.3107|0.6029|0.1902|0.1885|0.167|0.2751||||||||||0.2707|0.5073|0.1283|0.2105|0.2037|0.189|0.2185|0.2405|0.1626|0.2634|0.2419|0.6029|AFR|||||||||||MALRHLALLAGLLV||,T|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||1/9|ENST00000482816.5:n.185-4490G>A|||||||rs9651270||-1||SNV|HGNC|HGNC:26062||||5||||||||||||||0.3107|0.6029|0.1902|0.1885|0.167|0.2751||||||||||0.2707|0.5073|0.1283|0.2105|0.2037|0.189|0.2185|0.2405|0.1626|0.2634|0.2419|0.6029|AFR|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000285812|Transcript|ENST00000648183|lncRNA||||||||||rs9651270|992|1||SNV|||YES|||||||||||||||||0.3107|0.6029|0.1902|0.1885|0.167|0.2751||||||||||0.2707|0.5073|0.1283|0.2105|0.2037|0.189|0.2185|0.2405|0.1626|0.2634|0.2419|0.6029|AFR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.5:4:0,0:1,1:1,1:1,1,1,1 -chr1 1096804 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=96;POPAF=7.3;TLOD=7.15;SRC=snv;GRP=s001;CSQ=G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379319|protein_coding||1/9|ENST00000379319.5:c.-135-4701T>C|||||||rs9651272||-1||SNV|HGNC|HGNC:26062||||5|P1|CCDS7.2|ENSP00000368623|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||0.8690|0.9017|0.8545|0.9881|0.7276|0.8579||||||||||0.7987|0.8889|0.7362|0.8378|0.7969|0.9787|0.7563|0.6911|0.7259|0.798|0.8462|0.9881|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,G|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379320|protein_coding||||||||||rs9651272|4630|-1||SNV|HGNC|HGNC:26062||||2||CCDS85917.1|ENSP00000368624||Q5T2W9.107|UPI0000205ACE||||||||0.8690|0.9017|0.8545|0.9881|0.7276|0.8579||||||||||0.7987|0.8889|0.7362|0.8378|0.7969|0.9787|0.7563|0.6911|0.7259|0.798|0.8462|0.9881|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,G|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay||1/10|ENST00000379325.7:c.-135-4701T>C|||||||rs9651272||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||0.8690|0.9017|0.8545|0.9881|0.7276|0.8579||||||||||0.7987|0.8889|0.7362|0.8378|0.7969|0.9787|0.7563|0.6911|0.7259|0.798|0.8462|0.9881|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding||2/11|ENST00000379339.5:c.-135-4701T>C|||||||rs9651272||-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||0.8690|0.9017|0.8545|0.9881|0.7276|0.8579||||||||||0.7987|0.8889|0.7362|0.8378|0.7969|0.9787|0.7563|0.6911|0.7259|0.798|0.8462|0.9881|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding||1/9|ENST00000421241.7:c.-135-4701T>C|||||||rs9651272||-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||0.8690|0.9017|0.8545|0.9881|0.7276|0.8579||||||||||0.7987|0.8889|0.7362|0.8378|0.7969|0.9787|0.7563|0.6911|0.7259|0.798|0.8462|0.9881|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,G|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000427787|protein_coding||||||||||rs9651272|3991|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000395935||B2REC5.64|UPI000173DCFE||||||||0.8690|0.9017|0.8545|0.9881|0.7276|0.8579||||||||||0.7987|0.8889|0.7362|0.8378|0.7969|0.9787|0.7563|0.6911|0.7259|0.798|0.8462|0.9881|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLC||,G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||1/10|ENST00000434641.5:c.-135-4701T>C|||||||rs9651272||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||0.8690|0.9017|0.8545|0.9881|0.7276|0.8579||||||||||0.7987|0.8889|0.7362|0.8378|0.7969|0.9787|0.7563|0.6911|0.7259|0.798|0.8462|0.9881|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,G|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000442117|protein_coding||||||||||rs9651272|3991|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000416740||B2REC4.74|UPI000173DCFD||||||||0.8690|0.9017|0.8545|0.9881|0.7276|0.8579||||||||||0.7987|0.8889|0.7362|0.8378|0.7969|0.9787|0.7563|0.6911|0.7259|0.798|0.8462|0.9881|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNA||,G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding||2/6|ENST00000462097.5:c.-135-4701T>C|||||||rs9651272||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20||||||||0.8690|0.9017|0.8545|0.9881|0.7276|0.8579||||||||||0.7987|0.8889|0.7362|0.8378|0.7969|0.9787|0.7563|0.6911|0.7259|0.798|0.8462|0.9881|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,G|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000465822|retained_intron||||||||||rs9651272|4727|-1||SNV|HGNC|HGNC:26062||||2||||||||||||||0.8690|0.9017|0.8545|0.9881|0.7276|0.8579||||||||||0.7987|0.8889|0.7362|0.8378|0.7969|0.9787|0.7563|0.6911|0.7259|0.798|0.8462|0.9881|EAS|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay||1/11|ENST00000467751.5:c.-135-4701T>C|||||||rs9651272||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||0.8690|0.9017|0.8545|0.9881|0.7276|0.8579||||||||||0.7987|0.8889|0.7362|0.8378|0.7969|0.9787|0.7563|0.6911|0.7259|0.798|0.8462|0.9881|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,G|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000472741|retained_intron||1/2|ENST00000472741.5:n.29-4701T>C|||||||rs9651272||-1||SNV|HGNC|HGNC:26062||||4||||||||||||||0.8690|0.9017|0.8545|0.9881|0.7276|0.8579||||||||||0.7987|0.8889|0.7362|0.8378|0.7969|0.9787|0.7563|0.6911|0.7259|0.798|0.8462|0.9881|EAS|||||||||||||,G|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000473600|retained_intron||||||||||rs9651272|4510|-1||SNV|HGNC|HGNC:26062||||3||||||||||||||0.8690|0.9017|0.8545|0.9881|0.7276|0.8579||||||||||0.7987|0.8889|0.7362|0.8378|0.7969|0.9787|0.7563|0.6911|0.7259|0.798|0.8462|0.9881|EAS|||||||||||||,G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding||1/5|ENST00000475119.5:c.-179-4701T>C|||||||rs9651272||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21||||||||0.8690|0.9017|0.8545|0.9881|0.7276|0.8579||||||||||0.7987|0.8889|0.7362|0.8378|0.7969|0.9787|0.7563|0.6911|0.7259|0.798|0.8462|0.9881|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,G|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay||1/9|ENST00000477196.5:c.-135-4701T>C|||||||rs9651272||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||0.8690|0.9017|0.8545|0.9881|0.7276|0.8579||||||||||0.7987|0.8889|0.7362|0.8378|0.7969|0.9787|0.7563|0.6911|0.7259|0.798|0.8462|0.9881|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000480643|protein_coding||4/5|ENST00000480643.1:c.-135-4701T>C|||||||rs9651272||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||4|||ENSP00000464657||J3QSF0.36|UPI0003F48015||||||||0.8690|0.9017|0.8545|0.9881|0.7276|0.8579||||||||||0.7987|0.8889|0.7362|0.8378|0.7969|0.9787|0.7563|0.6911|0.7259|0.798|0.8462|0.9881|EAS|||||||||||MALRHLALLAGLLV||,G|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||1/9|ENST00000482816.5:n.185-4701T>C|||||||rs9651272||-1||SNV|HGNC|HGNC:26062||||5||||||||||||||0.8690|0.9017|0.8545|0.9881|0.7276|0.8579||||||||||0.7987|0.8889|0.7362|0.8378|0.7969|0.9787|0.7563|0.6911|0.7259|0.798|0.8462|0.9881|EAS|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000285812|Transcript|ENST00000648183|lncRNA||||||||||rs9651272|781|1||SNV|||YES|||||||||||||||||0.8690|0.9017|0.8545|0.9881|0.7276|0.8579||||||||||0.7987|0.8889|0.7362|0.8378|0.7969|0.9787|0.7563|0.6911|0.7259|0.798|0.8462|0.9881|EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1096900 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=15;POPAF=7.3;TLOD=3.58;SRC=snv;GRP=s001;CSQ=C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379319|protein_coding||1/9|ENST00000379319.5:c.-135-4797A>G|||||||||-1||SNV|HGNC|HGNC:26062||||5|P1|CCDS7.2|ENSP00000368623|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379320|protein_coding|||||||||||4726|-1||SNV|HGNC|HGNC:26062||||2||CCDS85917.1|ENSP00000368624||Q5T2W9.107|UPI0000205ACE||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay||1/10|ENST00000379325.7:c.-135-4797A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding||2/11|ENST00000379339.5:c.-135-4797A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding||1/9|ENST00000421241.7:c.-135-4797A>G|||||||||-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000427787|protein_coding|||||||||||4087|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000395935||B2REC5.64|UPI000173DCFE||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLC||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||1/10|ENST00000434641.5:c.-135-4797A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,C|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000442117|protein_coding|||||||||||4087|-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000416740||B2REC4.74|UPI000173DCFD||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNA||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding||2/6|ENST00000462097.5:c.-135-4797A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,C|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000465822|retained_intron|||||||||||4823|-1||SNV|HGNC|HGNC:26062||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay||1/11|ENST00000467751.5:c.-135-4797A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,C|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000472741|retained_intron||1/2|ENST00000472741.5:n.29-4797A>G|||||||||-1||SNV|HGNC|HGNC:26062||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000473600|retained_intron|||||||||||4606|-1||SNV|HGNC|HGNC:26062||||3||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding||1/5|ENST00000475119.5:c.-179-4797A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,C|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay||1/9|ENST00000477196.5:c.-135-4797A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000480643|protein_coding||4/5|ENST00000480643.1:c.-135-4797A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||4|||ENSP00000464657||J3QSF0.36|UPI0003F48015||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLV||,C|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||1/9|ENST00000482816.5:n.185-4797A>G|||||||||-1||SNV|HGNC|HGNC:26062||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000285812|Transcript|ENST00000648183|lncRNA|||||||||||685|1||SNV|||YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 1098619 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=37;POPAF=7.3;TLOD=6.95;SRC=snv;GRP=s001;CSQ=T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379319|protein_coding||1/9|ENST00000379319.5:c.-135-6516G>A|||||||rs4970353||-1||SNV|HGNC|HGNC:26062||||5|P1|CCDS7.2|ENSP00000368623|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||0.5411|0.2602|0.6628|0.7937|0.5567|0.5583||||||||||0.5121|0.335|0.6053|0.6222|0.5836|0.7842|0.5378|0.443|0.5613|0.5196|0.5724|0.7937|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay||1/10|ENST00000379325.7:c.-135-6516G>A|||||||rs4970353||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||0.5411|0.2602|0.6628|0.7937|0.5567|0.5583||||||||||0.5121|0.335|0.6053|0.6222|0.5836|0.7842|0.5378|0.443|0.5613|0.5196|0.5724|0.7937|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding||2/11|ENST00000379339.5:c.-135-6516G>A|||||||rs4970353||-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||0.5411|0.2602|0.6628|0.7937|0.5567|0.5583||||||||||0.5121|0.335|0.6053|0.6222|0.5836|0.7842|0.5378|0.443|0.5613|0.5196|0.5724|0.7937|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding||1/9|ENST00000421241.7:c.-135-6516G>A|||||||rs4970353||-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||0.5411|0.2602|0.6628|0.7937|0.5567|0.5583||||||||||0.5121|0.335|0.6053|0.6222|0.5836|0.7842|0.5378|0.443|0.5613|0.5196|0.5724|0.7937|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||1/10|ENST00000434641.5:c.-135-6516G>A|||||||rs4970353||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||0.5411|0.2602|0.6628|0.7937|0.5567|0.5583||||||||||0.5121|0.335|0.6053|0.6222|0.5836|0.7842|0.5378|0.443|0.5613|0.5196|0.5724|0.7937|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding||2/6|ENST00000462097.5:c.-135-6516G>A|||||||rs4970353||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20||||||||0.5411|0.2602|0.6628|0.7937|0.5567|0.5583||||||||||0.5121|0.335|0.6053|0.6222|0.5836|0.7842|0.5378|0.443|0.5613|0.5196|0.5724|0.7937|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,T|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay||1/11|ENST00000467751.5:c.-135-6516G>A|||||||rs4970353||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||0.5411|0.2602|0.6628|0.7937|0.5567|0.5583||||||||||0.5121|0.335|0.6053|0.6222|0.5836|0.7842|0.5378|0.443|0.5613|0.5196|0.5724|0.7937|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,T|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000472741|retained_intron||1/2|ENST00000472741.5:n.29-6516G>A|||||||rs4970353||-1||SNV|HGNC|HGNC:26062||||4||||||||||||||0.5411|0.2602|0.6628|0.7937|0.5567|0.5583||||||||||0.5121|0.335|0.6053|0.6222|0.5836|0.7842|0.5378|0.443|0.5613|0.5196|0.5724|0.7937|EAS|||||||||||||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding||1/5|ENST00000475119.5:c.-179-6516G>A|||||||rs4970353||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21||||||||0.5411|0.2602|0.6628|0.7937|0.5567|0.5583||||||||||0.5121|0.335|0.6053|0.6222|0.5836|0.7842|0.5378|0.443|0.5613|0.5196|0.5724|0.7937|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,T|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay||1/9|ENST00000477196.5:c.-135-6516G>A|||||||rs4970353||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||0.5411|0.2602|0.6628|0.7937|0.5567|0.5583||||||||||0.5121|0.335|0.6053|0.6222|0.5836|0.7842|0.5378|0.443|0.5613|0.5196|0.5724|0.7937|EAS|||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000480643|protein_coding||4/5|ENST00000480643.1:c.-135-6516G>A|||||||rs4970353||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||4|||ENSP00000464657||J3QSF0.36|UPI0003F48015||||||||0.5411|0.2602|0.6628|0.7937|0.5567|0.5583||||||||||0.5121|0.335|0.6053|0.6222|0.5836|0.7842|0.5378|0.443|0.5613|0.5196|0.5724|0.7937|EAS|||||||||||MALRHLALLAGLLV||,T|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||1/9|ENST00000482816.5:n.185-6516G>A|||||||rs4970353||-1||SNV|HGNC|HGNC:26062||||5||||||||||||||0.5411|0.2602|0.6628|0.7937|0.5567|0.5583||||||||||0.5121|0.335|0.6053|0.6222|0.5836|0.7842|0.5378|0.443|0.5613|0.5196|0.5724|0.7937|EAS|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000285812|Transcript|ENST00000648183|lncRNA||1/1|ENST00000648183.1:n.529+506C>T|||||||rs4970353||1||SNV|||YES|||||||||||||||||0.5411|0.2602|0.6628|0.7937|0.5567|0.5583||||||||||0.5121|0.335|0.6053|0.6222|0.5836|0.7842|0.5378|0.443|0.5613|0.5196|0.5724|0.7937|EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1110480 . A T . base_qual;clustered_events;haplotype AS_FilterStatus=base_qual;AS_SB_TABLE=1%2C2|1%2C0;DP=4;ECNT=3;GERMQ=40;MBQ=34,14;MFRL=0,0;MMQ=60,60;MPOS=128;POPAF=7.3;TLOD=3.42;SRC=snv;GRP=s001;CSQ=T|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379319|protein_coding|||||||||||4353|-1||SNV|HGNC|HGNC:26062||||5|P1|CCDS7.2|ENSP00000368623|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay||1/10|ENST00000379325.7:c.-136+5580T>A|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding||2/11|ENST00000379339.5:c.-136+4542T>A|||||||||-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding||1/9|ENST00000421241.7:c.-136+5580T>A|||||||||-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||1/10|ENST00000434641.5:c.-136+5580T>A|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding||1/6|ENST00000462097.5:c.-229-4431T>A|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,T|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay||1/11|ENST00000467751.5:c.-136+5580T>A|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,T|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000472741|retained_intron||1/2|ENST00000472741.5:n.28+5580T>A|||||||||-1||SNV|HGNC|HGNC:26062||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding||1/5|ENST00000475119.5:c.-180+5580T>A|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,T|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay||1/9|ENST00000477196.5:c.-136+5580T>A|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000480643|protein_coding||2/5|ENST00000480643.1:c.-451-3609T>A|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||4|||ENSP00000464657||J3QSF0.36|UPI0003F48015||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLV||,T|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||1/9|ENST00000482816.5:n.184+5580T>A|||||||||-1||SNV|HGNC|HGNC:26062||||5|||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:3,1:0.4:4:1,0:1,0:2,1:0|1:1110470_AA_CG:1110470:1,2,1,0 -chr1 1110490 . T A . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=1%2C2|1%2C0;DP=5;ECNT=3;GERMQ=40;MBQ=33,24;MFRL=0,0;MMQ=60,60;MPOS=118;POPAF=7.3;TLOD=3.38;SRC=snv;GRP=s001;CSQ=A|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379319|protein_coding|||||||||||4363|-1||SNV|HGNC|HGNC:26062||||5|P1|CCDS7.2|ENSP00000368623|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,A|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay||1/10|ENST00000379325.7:c.-136+5570A>T|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,A|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding||2/11|ENST00000379339.5:c.-136+4532A>T|||||||||-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,A|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding||1/9|ENST00000421241.7:c.-136+5570A>T|||||||||-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,A|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||1/10|ENST00000434641.5:c.-136+5570A>T|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,A|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding||1/6|ENST00000462097.5:c.-229-4441A>T|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,A|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay||1/11|ENST00000467751.5:c.-136+5570A>T|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,A|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000472741|retained_intron||1/2|ENST00000472741.5:n.28+5570A>T|||||||||-1||SNV|HGNC|HGNC:26062||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding||1/5|ENST00000475119.5:c.-180+5570A>T|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,A|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay||1/9|ENST00000477196.5:c.-136+5570A>T|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,A|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000480643|protein_coding||2/5|ENST00000480643.1:c.-451-3619A>T|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||4|||ENSP00000464657||J3QSF0.36|UPI0003F48015||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLV||,A|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||1/9|ENST00000482816.5:n.184+5570A>T|||||||||-1||SNV|HGNC|HGNC:26062||||5|||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:3,1:0.396:4:1,0:1,1:2,1:0|1:1110470_AA_CG:1110470:1,2,1,0 -chr1 1110673 . T C . base_qual AS_FilterStatus=base_qual;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,19;MFRL=0,0;MMQ=60,60;MPOS=8;POPAF=7.3;TLOD=3.53;SRC=snv;GRP=s001;CSQ=C|upstream_gene_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379319|protein_coding|||||||||||4546|-1||SNV|HGNC|HGNC:26062||||5|P1|CCDS7.2|ENSP00000368623|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay||1/10|ENST00000379325.7:c.-136+5387A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding||2/11|ENST00000379339.5:c.-136+4349A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding||1/9|ENST00000421241.7:c.-136+5387A>G|||||||||-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||1/10|ENST00000434641.5:c.-136+5387A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding||1/6|ENST00000462097.5:c.-229-4624A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,C|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay||1/11|ENST00000467751.5:c.-136+5387A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,C|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000472741|retained_intron||1/2|ENST00000472741.5:n.28+5387A>G|||||||||-1||SNV|HGNC|HGNC:26062||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding||1/5|ENST00000475119.5:c.-180+5387A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,C|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay||1/9|ENST00000477196.5:c.-136+5387A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000480643|protein_coding||2/5|ENST00000480643.1:c.-451-3802A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||4|||ENSP00000464657||J3QSF0.36|UPI0003F48015||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLV||,C|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||1/9|ENST00000482816.5:n.184+5387A>G|||||||||-1||SNV|HGNC|HGNC:26062||||5|||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1112230 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C1;DP=4;ECNT=1;GERMQ=37;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=16;POPAF=7.3;TLOD=6.78;SRC=snv;GRP=s001;CSQ=T|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay||1/10|ENST00000379325.7:c.-136+3830G>A|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding||2/11|ENST00000379339.5:c.-136+2792G>A|||||||||-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding||1/9|ENST00000421241.7:c.-136+3830G>A|||||||||-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||1/10|ENST00000434641.5:c.-136+3830G>A|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding||1/6|ENST00000462097.5:c.-230+3830G>A|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,T|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay||1/11|ENST00000467751.5:c.-136+3830G>A|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,T|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000472741|retained_intron||1/2|ENST00000472741.5:n.28+3830G>A|||||||||-1||SNV|HGNC|HGNC:26062||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding||1/5|ENST00000475119.5:c.-180+3830G>A|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,T|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay||1/9|ENST00000477196.5:c.-136+3830G>A|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,T|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000480643|protein_coding||2/5|ENST00000480643.1:c.-452+2792G>A|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||4|||ENSP00000464657||J3QSF0.36|UPI0003F48015||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLV||,T|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||1/9|ENST00000482816.5:n.184+3830G>A|||||||||-1||SNV|HGNC|HGNC:26062||||5|||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.5:4:0,0:1,1:1,1:1,1,1,1 -chr1 1112351 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=2;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=39;POPAF=7.3;TLOD=10.75;SRC=snv;GRP=s001;CSQ=G|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay||1/10|ENST00000379325.7:c.-136+3709T>C|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding||2/11|ENST00000379339.5:c.-136+2671T>C|||||||||-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding||1/9|ENST00000421241.7:c.-136+3709T>C|||||||||-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||1/10|ENST00000434641.5:c.-136+3709T>C|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding||1/6|ENST00000462097.5:c.-230+3709T>C|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,G|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay||1/11|ENST00000467751.5:c.-136+3709T>C|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,G|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000472741|retained_intron||1/2|ENST00000472741.5:n.28+3709T>C|||||||||-1||SNV|HGNC|HGNC:26062||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding||1/5|ENST00000475119.5:c.-180+3709T>C|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,G|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay||1/9|ENST00000477196.5:c.-136+3709T>C|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,G|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000480643|protein_coding||2/5|ENST00000480643.1:c.-452+2671T>C|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||4|||ENSP00000464657||J3QSF0.36|UPI0003F48015||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLV||,G|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||1/9|ENST00000482816.5:n.184+3709T>C|||||||||-1||SNV|HGNC|HGNC:26062||||5|||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,0:0,1:0,2:0,0,1,2 -chr1 1112385 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=2;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=7;POPAF=7.3;TLOD=7.15;SRC=snv;GRP=s001;CSQ=A|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay||1/10|ENST00000379325.7:c.-136+3675C>T|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,A|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding||2/11|ENST00000379339.5:c.-136+2637C>T|||||||||-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,A|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding||1/9|ENST00000421241.7:c.-136+3675C>T|||||||||-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,A|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||1/10|ENST00000434641.5:c.-136+3675C>T|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,A|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding||1/6|ENST00000462097.5:c.-230+3675C>T|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,A|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay||1/11|ENST00000467751.5:c.-136+3675C>T|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,A|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000472741|retained_intron||1/2|ENST00000472741.5:n.28+3675C>T|||||||||-1||SNV|HGNC|HGNC:26062||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding||1/5|ENST00000475119.5:c.-180+3675C>T|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,A|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay||1/9|ENST00000477196.5:c.-136+3675C>T|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,A|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000480643|protein_coding||2/5|ENST00000480643.1:c.-452+2637C>T|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||4|||ENSP00000464657||J3QSF0.36|UPI0003F48015||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLV||,A|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||1/9|ENST00000482816.5:n.184+3675C>T|||||||||-1||SNV|HGNC|HGNC:26062||||5|||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1112865 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=3%2C2|1%2C1;DP=8;ECNT=4;GERMQ=40;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=115;POPAF=7.3;TLOD=6.02;SRC=snv;GRP=s001;CSQ=C|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay||1/10|ENST00000379325.7:c.-136+3195A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding||2/11|ENST00000379339.5:c.-136+2157A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding||1/9|ENST00000421241.7:c.-136+3195A>G|||||||||-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||1/10|ENST00000434641.5:c.-136+3195A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding||1/6|ENST00000462097.5:c.-230+3195A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,C|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay||1/11|ENST00000467751.5:c.-136+3195A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,C|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000472741|retained_intron||1/2|ENST00000472741.5:n.28+3195A>G|||||||||-1||SNV|HGNC|HGNC:26062||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding||1/5|ENST00000475119.5:c.-180+3195A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,C|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay||1/9|ENST00000477196.5:c.-136+3195A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000480643|protein_coding||2/5|ENST00000480643.1:c.-452+2157A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||4|||ENSP00000464657||J3QSF0.36|UPI0003F48015||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLV||,C|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||1/9|ENST00000482816.5:n.184+3195A>G|||||||||-1||SNV|HGNC|HGNC:26062||||5|||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:5,2:0.334:7:0,0:3,1:3,1:3,2,1,1 -chr1 1112892 . T C . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=5%2C5|1%2C1;DP=12;ECNT=4;GERMQ=49;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=88;POPAF=7.3;TLOD=6.43;SRC=snv;GRP=s001;CSQ=C|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay||1/10|ENST00000379325.7:c.-136+3168A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding||2/11|ENST00000379339.5:c.-136+2130A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding||1/9|ENST00000421241.7:c.-136+3168A>G|||||||||-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||1/10|ENST00000434641.5:c.-136+3168A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding||1/6|ENST00000462097.5:c.-230+3168A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,C|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay||1/11|ENST00000467751.5:c.-136+3168A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,C|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000472741|retained_intron||1/2|ENST00000472741.5:n.28+3168A>G|||||||||-1||SNV|HGNC|HGNC:26062||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding||1/5|ENST00000475119.5:c.-180+3168A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,C|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay||1/9|ENST00000477196.5:c.-136+3168A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000480643|protein_coding||2/5|ENST00000480643.1:c.-452+2130A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||4|||ENSP00000464657||J3QSF0.36|UPI0003F48015||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLV||,C|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||1/9|ENST00000482816.5:n.184+3168A>G|||||||||-1||SNV|HGNC|HGNC:26062||||5|||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:10,2:0.25:12:0,0:5,1:5,1:0|1:1112892_T_C:1112892:5,5,1,1 -chr1 1112897 . T C . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=5%2C5|1%2C1;DP=12;ECNT=4;GERMQ=49;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=83;POPAF=7.3;TLOD=6.43;SRC=snv;GRP=s001;CSQ=C|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay||1/10|ENST00000379325.7:c.-136+3163A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding||2/11|ENST00000379339.5:c.-136+2125A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding||1/9|ENST00000421241.7:c.-136+3163A>G|||||||||-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||1/10|ENST00000434641.5:c.-136+3163A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding||1/6|ENST00000462097.5:c.-230+3163A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,C|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay||1/11|ENST00000467751.5:c.-136+3163A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,C|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000472741|retained_intron||1/2|ENST00000472741.5:n.28+3163A>G|||||||||-1||SNV|HGNC|HGNC:26062||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding||1/5|ENST00000475119.5:c.-180+3163A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,C|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay||1/9|ENST00000477196.5:c.-136+3163A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000480643|protein_coding||2/5|ENST00000480643.1:c.-452+2125A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||4|||ENSP00000464657||J3QSF0.36|UPI0003F48015||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLV||,C|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||1/9|ENST00000482816.5:n.184+3163A>G|||||||||-1||SNV|HGNC|HGNC:26062||||5|||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:10,2:0.25:12:0,0:5,1:5,1:0|1:1112892_T_C:1112892:5,5,1,1 -chr1 1113318 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=6%2C4|4%2C4;DP=19;ECNT=2;GERMQ=35;MBQ=32,34;MFRL=0,0;MMQ=60,60;MPOS=84;POPAF=7.3;TLOD=27.87;SRC=snv;GRP=s001;CSQ=C|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay||1/10|ENST00000379325.7:c.-136+2742A>G|||||||rs1029046619||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding||2/11|ENST00000379339.5:c.-136+1704A>G|||||||rs1029046619||-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding||1/9|ENST00000421241.7:c.-136+2742A>G|||||||rs1029046619||-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||1/10|ENST00000434641.5:c.-136+2742A>G|||||||rs1029046619||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding||1/6|ENST00000462097.5:c.-230+2742A>G|||||||rs1029046619||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,C|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay||1/11|ENST00000467751.5:c.-136+2742A>G|||||||rs1029046619||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,C|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000472741|retained_intron||1/2|ENST00000472741.5:n.28+2742A>G|||||||rs1029046619||-1||SNV|HGNC|HGNC:26062||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding||1/5|ENST00000475119.5:c.-180+2742A>G|||||||rs1029046619||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,C|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay||1/9|ENST00000477196.5:c.-136+2742A>G|||||||rs1029046619||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000480643|protein_coding||2/5|ENST00000480643.1:c.-452+1704A>G|||||||rs1029046619||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||4|||ENSP00000464657||J3QSF0.36|UPI0003F48015||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLV||,C|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||1/9|ENST00000482816.5:n.184+2742A>G|||||||rs1029046619||-1||SNV|HGNC|HGNC:26062||||5|||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:10,8:0.5:18:0,0:5,4:5,5:0|1:1113318_T_C:1113318:6,4,4,4 -chr1 1113322 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=9%2C8|1%2C1;DP=19;ECNT=2;GERMQ=64;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=47;POPAF=7.3;TLOD=5.41;SRC=snv;GRP=s001;CSQ=C|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay||1/10|ENST00000379325.7:c.-136+2738A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding||2/11|ENST00000379339.5:c.-136+1700A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding||1/9|ENST00000421241.7:c.-136+2738A>G|||||||||-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||1/10|ENST00000434641.5:c.-136+2738A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding||1/6|ENST00000462097.5:c.-230+2738A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,C|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay||1/11|ENST00000467751.5:c.-136+2738A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,C|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000472741|retained_intron||1/2|ENST00000472741.5:n.28+2738A>G|||||||||-1||SNV|HGNC|HGNC:26062||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding||1/5|ENST00000475119.5:c.-180+2738A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,C|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay||1/9|ENST00000477196.5:c.-136+2738A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000480643|protein_coding||2/5|ENST00000480643.1:c.-452+1700A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||4|||ENSP00000464657||J3QSF0.36|UPI0003F48015||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLV||,C|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||1/9|ENST00000482816.5:n.184+2738A>G|||||||||-1||SNV|HGNC|HGNC:26062||||5|||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:17,2:0.167:19:0,0:9,1:9,1:0|1:1113318_T_C:1113318:9,8,1,1 -chr1 1113490 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C3|1%2C1;DP=7;ECNT=2;GERMQ=40;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=110;POPAF=7.3;TLOD=6.15;SRC=snv;GRP=s001;CSQ=C|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay||1/10|ENST00000379325.7:c.-136+2570A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding||2/11|ENST00000379339.5:c.-136+1532A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding||1/9|ENST00000421241.7:c.-136+2570A>G|||||||||-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||1/10|ENST00000434641.5:c.-136+2570A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding||1/6|ENST00000462097.5:c.-230+2570A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,C|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay||1/11|ENST00000467751.5:c.-136+2570A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,C|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000472741|retained_intron||1/2|ENST00000472741.5:n.28+2570A>G|||||||||-1||SNV|HGNC|HGNC:26062||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding||1/5|ENST00000475119.5:c.-180+2570A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,C|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay||1/9|ENST00000477196.5:c.-136+2570A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000480643|protein_coding||2/5|ENST00000480643.1:c.-452+1532A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||4|||ENSP00000464657||J3QSF0.36|UPI0003F48015||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLV||,C|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||1/9|ENST00000482816.5:n.184+2570A>G|||||||||-1||SNV|HGNC|HGNC:26062||||5|||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:5,2:0.333:7:1,0:2,1:3,1:2,3,1,1 -chr1 1113525 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C4|1%2C1;DP=8;ECNT=2;GERMQ=42;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=137;POPAF=7.3;TLOD=5.98;SRC=snv;GRP=s001;CSQ=C|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay||1/10|ENST00000379325.7:c.-136+2535A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding||2/11|ENST00000379339.5:c.-136+1497A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding||1/9|ENST00000421241.7:c.-136+2535A>G|||||||||-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||1/10|ENST00000434641.5:c.-136+2535A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding||1/6|ENST00000462097.5:c.-230+2535A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,C|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay||1/11|ENST00000467751.5:c.-136+2535A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,C|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000472741|retained_intron||1/2|ENST00000472741.5:n.28+2535A>G|||||||||-1||SNV|HGNC|HGNC:26062||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding||1/5|ENST00000475119.5:c.-180+2535A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,C|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay||1/9|ENST00000477196.5:c.-136+2535A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000480643|protein_coding||2/5|ENST00000480643.1:c.-452+1497A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||4|||ENSP00000464657||J3QSF0.36|UPI0003F48015||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLV||,C|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||1/9|ENST00000482816.5:n.184+2535A>G|||||||||-1||SNV|HGNC|HGNC:26062||||5|||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,2:0.286:8:1,0:2,1:4,1:2,4,1,1 -chr1 1114590 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5%2C5|1%2C1;DP=12;ECNT=1;GERMQ=49;MBQ=32,32;MFRL=0,0;MMQ=60,60;MPOS=30;POPAF=7.3;TLOD=5.73;SRC=snv;GRP=s001;CSQ=C|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379325|nonsense_mediated_decay||1/10|ENST00000379325.7:c.-136+1470A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000368629|Q96HA4.139||UPI0000048F44|Q96HA4-3|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSDVGSAGKEDPPRQGRPPIPAPP||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000379339|protein_coding||2/11|ENST00000379339.5:c.-136+432A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2||CCDS81250.1|ENSP00000368644|Q96HA4.139||UPI000013EF85|Q96HA4-1|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTVTRNSTAVINTQAEGTLSPPGLSSLPVVREWALTHTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSGNSSCRIPLWGFPSLGQSQGALWVCPQTGLPGSGSRPPLPGSPGDPPTRQGQGRIWLVPPALDLSWIWPAPPARPPLIPVTSMLFPVPETWGLQERRTHHDRADPQYLLLLEVQLHPRTDAAGLRQALLSSHRFSGAGSGGPKSQPVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000421241|protein_coding||1/9|ENST00000421241.7:c.-136+1470A>G|||||||||-1||SNV|HGNC|HGNC:26062|YES|NM_017891.5||2|P1|CCDS7.2|ENSP00000400736|Q96HA4.139|A0A024R082.64|UPI0000049DAC|Q96HA4-4|||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSVRKPRYVRRERPLDRATDPAAFPGEARISNV||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000434641|protein_coding||1/10|ENST00000434641.5:c.-136+1470A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||5|||ENSP00000390635||Q5T2W7.102|UPI0003F47F17||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHPGAPRVAASLFLGTFFISSGLILSVAGFFYLKRSSKLPRACYRRNKAPALQPGEAAAMIPPPQSSAPPEDRRSRPPPGPPEQPSLQWCWVRRTQESARTEAALRQAGAAPGQGHGSRCLPG||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000462097|protein_coding||1/6|ENST00000462097.5:c.-230+1470A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000464273||J3QRL0.44|UPI000268AE20||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPGAPFPMNRSSGTPGRPHP||,C|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000467751|nonsense_mediated_decay||1/11|ENST00000467751.5:c.-136+1470A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000463144||J3QKM1.38|UPI0000205ACB||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGPAARVLCGCGGRQRQLPRRKSVWSRLLQALERGRERQLRPLWERNPPSLQRLRV||,C|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000472741|retained_intron||1/2|ENST00000472741.5:n.28+1470A>G|||||||||-1||SNV|HGNC|HGNC:26062||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000475119|protein_coding||1/5|ENST00000475119.5:c.-180+1470A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||3|||ENSP00000462517||J3KSJ6.44|UPI000268AE21||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTAQLPECCVDVVGVNASCPGASLCGPGCYRRWNADGSASCVRCGNGTLPAYNGSECRSFAGPG||,C|intron_variant&NMD_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000477196|nonsense_mediated_decay||1/9|ENST00000477196.5:c.-136+1470A>G|||||||||-1||SNV|HGNC|HGNC:26062||||2|||ENSP00000462798||J3KT48.38|UPI000048B028||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLVGVASKSMENTDTDVPAPEVLTRSTAGVRGACASQRGALRCLLGERLLRNGWVRRGPHGEASWPAMGAPLPAVTAQRAAHRYRGV||,C|intron_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000480643|protein_coding||2/5|ENST00000480643.1:c.-452+432A>G|||||||||-1|cds_end_NF|SNV|HGNC|HGNC:26062||||4|||ENSP00000464657||J3QSF0.36|UPI0003F48015||||||||||||||||||||||||||||||||||||||||||||||MALRHLALLAGLLV||,C|intron_variant&non_coding_transcript_variant|MODIFIER|C1orf159|ENSG00000131591|Transcript|ENST00000482816|protein_coding_CDS_not_defined||1/9|ENST00000482816.5:n.184+1470A>G|||||||||-1||SNV|HGNC|HGNC:26062||||5|||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:10,2:0.25:12:0,0:4,1:5,1:5,5,1,1 -chr1 1130087 . T A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=67;POPAF=7.3;TLOD=6.85;SRC=snv;GRP=s001;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1143811 . T C . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=3;GERMQ=44;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=73;POPAF=7.3;TLOD=4.2;SRC=snv;GRP=s001;CSQ=C|non_coding_transcript_exon_variant|MODIFIER|LINC01342|ENSG00000223823|Transcript|ENST00000416774|lncRNA|3/3||ENST00000416774.1:n.1375T>C||1375|||||rs11260602||1||SNV|HGNC|HGNC:50551|YES|||1||||||||||||||0.2969|0.6029|0.1744|0.0437|0.2545|0.2751||||||||||0.3267|0.5461|0.2362|0.1849|0.1952|0.0463|0.333|0.288|0.2592|0.2678|0.2805|0.6029|AFR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,1:0,0:0,1:0|1:1143811_T_C:1143811:0,0,0,1 -chr1 1143818 . T C . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=3;GERMQ=44;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=66;POPAF=7.3;TLOD=4.2;SRC=snv;GRP=s001;CSQ=C|non_coding_transcript_exon_variant|MODIFIER|LINC01342|ENSG00000223823|Transcript|ENST00000416774|lncRNA|3/3||ENST00000416774.1:n.1382T>C||1382|||||rs11260603||1||SNV|HGNC|HGNC:50551|YES|||1||||||||||||||0.3035|0.6271|0.1744|0.0437|0.2555|0.2751||||||||||0.332|0.5648|0.2356|0.1853|0.195|0.04647|0.3334|0.288|0.2593|0.2705|0.2805|0.6271|AFR|||1|23382691&35974158||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,1:0,0:0,1:0|1:1143811_T_C:1143811:0,0,0,1 -chr1 1143881 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=3;GERMQ=44;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=3;POPAF=7.3;TLOD=3.27;SRC=snv;GRP=s001;CSQ=A|non_coding_transcript_exon_variant|MODIFIER|LINC01342|ENSG00000223823|Transcript|ENST00000416774|lncRNA|3/3||ENST00000416774.1:n.1445G>A||1445|||||rs116661896||1||SNV|HGNC|HGNC:50551|YES|||1||||||||||||||0.0389|0.0401|0.0231|0.0109|0.0288|0.0879||||||||||0.03201|0.03022|0.003289|0.01944|0.02045|0.008074|0.07116|0.02532|0.02878|0.02775|0.08833|0.08833|gnomADg_SAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 1153882 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=101;POPAF=7.3;TLOD=7.55;SRC=snv;GRP=s001;CSQ=G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164820|open_chromatin_region||||||||||rs4970358||||SNV||||||||||||||||||||0.9910|0.9985|0.9827|1|0.9722|0.9969||||||||||0.9761|0.9945|0.9989|0.9795|0.9937|1|0.9375|0.9842|0.9659|0.9694|0.9961|1|EAS&gnomADg_EAS|||||||||||||,G|intergenic_variant|MODIFIER|||||||||||||||rs4970358||||SNV||||||||||||||||||||0.9910|0.9985|0.9827|1|0.9722|0.9969||||||||||0.9761|0.9945|0.9989|0.9795|0.9937|1|0.9375|0.9842|0.9659|0.9694|0.9961|1|EAS&gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1158233 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,22;MFRL=0,0;MMQ=60,60;MPOS=104;POPAF=7.3;TLOD=4.03;SRC=snv;GRP=s001;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1158404 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C1;DP=4;ECNT=1;GERMQ=37;MBQ=32,31;MFRL=0,0;MMQ=60,60;MPOS=97;POPAF=7.3;TLOD=6.38;SRC=snv;GRP=s001;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs115569263||||SNV||||||||||||||||||||0.0387|0.0522|0.0216|0.002|0.0249|0.0849||||||||||0.03151|0.04021|0|0.01792|0.01442|0.002125|0.06417|0.02532|0.02387|0.02727|0.08794|0.08794|gnomADg_SAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.5:4:0,0:1,1:1,1:1,1,1,1 -chr1 1160239 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=1;GERMQ=52;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=92;POPAF=7.3;TLOD=13.85;SRC=snv;GRP=s001;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs4970419||||SNV||||||||||||||||||||0.6458|0.6475|0.755|0.5526|0.6521|0.6554||||||||||0.6476|0.6412|0.7252|0.7473|0.7074|0.5364|0.58|0.6551|0.6418|0.66|0.6739|0.755|AMR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 1160818 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C1;DP=4;ECNT=1;GERMQ=37;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=29;POPAF=7.3;TLOD=6.68;SRC=snv;GRP=s001;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164821|enhancer||||||||||rs9442382||||SNV||||||||||||||||||||0.5485|0.3835|0.7176|0.5496|0.6262|0.5706||||||||||0.5635|0.4197|0.7242|0.7092|0.683|0.5295|0.5151|0.6013|0.6174|0.6001|0.5843|0.7242|gnomADg_AMI|||||||||||||,T|intergenic_variant|MODIFIER|||||||||||||||rs9442382||||SNV||||||||||||||||||||0.5485|0.3835|0.7176|0.5496|0.6262|0.5706||||||||||0.5635|0.4197|0.7242|0.7092|0.683|0.5295|0.5151|0.6013|0.6174|0.6001|0.5843|0.7242|gnomADg_AMI||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.5:4:0,0:1,1:1,1:1,1,1,1 -chr1 1161528 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=41;POPAF=7.3;TLOD=3.58;SRC=snv;GRP=s001;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs1539636||||SNV||||||||||||||||||||0.8163|0.8154|0.8775|0.5992|0.9374|0.8732||||||||||0.8756|0.8167|0.9901|0.8894|0.8929|0.595|0.9003|0.8481|0.924|0.8606|0.8749|0.9901|gnomADg_AMI||||21686129||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 1161720 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C1;DP=3;ECNT=1;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=108;POPAF=7.3;TLOD=8.04;SRC=snv;GRP=s001;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs1539634||||SNV||||||||||||||||||||0.8141|0.7995|0.879|0.5992|0.9414|0.8783||||||||||0.8728|0.7976|0.9901|0.8933|0.9011|0.5908|0.8997|0.9051|0.9278|0.8665|0.878|0.9901|gnomADg_AMI||||21686129||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.744:3:0,0:0,1:0,2:0,0,2,1 -chr1 1161907 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=2;GERMQ=49;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=40;POPAF=7.3;TLOD=10.65;SRC=snv;GRP=s001;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs9442384||||SNV||||||||||||||||||||0.8185|0.8162|0.8804|0.5982|0.9423|0.8773||||||||||0.8799|0.8183|0.9901|0.8975|0.9078|0.5958|0.8998|0.9335|0.9289|0.873|0.88|0.9901|gnomADg_AMI||||21686129||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,1:0,1:0,2:0,0,1,2 -chr1 1161955 . T G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=2;GERMQ=44;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=3;POPAF=7.3;TLOD=3.28;SRC=snv;GRP=s001;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs9442385||||SNV||||||||||||||||||||0.8347|0.8192|0.9035|0.6339|0.9553|0.8896||||||||||0.8783|0.8164|0.9901|0.8953|0.9012|0.5924|0.8997|0.9051|0.928|0.87|0.878|0.9901|gnomADg_AMI||||21686129||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 1162557 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=53;POPAF=7.3;TLOD=3.48;SRC=snv;GRP=s001;CSQ=G|upstream_gene_variant|MODIFIER|MIR200B|ENSG00000207730|Transcript|ENST00000384997|miRNA||||||||||rs1891907|4547|1||SNV|HGNC|HGNC:31579|YES|||||||||||||||||0.9996|0.9992|1|1|0.999|1||||||||||0.9976|0.9994|1|0.9996|1|1|0.9969|1|0.9956|0.9976|1|1|AMR&EAS&SAS&gnomADg_AMI&gnomADg_ASJ&gnomADg_EAS&gnomADg_MID&gnomADg_SAS|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344515|promoter||||||||||rs1891907||||SNV||||||||||||||||||||0.9996|0.9992|1|1|0.999|1||||||||||0.9976|0.9994|1|0.9996|1|1|0.9969|1|0.9956|0.9976|1|1|AMR&EAS&SAS&gnomADg_AMI&gnomADg_ASJ&gnomADg_EAS&gnomADg_MID&gnomADg_SAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 1162886 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|5%2C4;DP=11;ECNT=3;GERMQ=42;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=59;POPAF=7.3;TLOD=31.57;SRC=snv;GRP=s001;CSQ=T|upstream_gene_variant|MODIFIER|MIR200A|ENSG00000207607|Transcript|ENST00000384875|miRNA||||||||||rs147921662|4977|1||SNV|HGNC|HGNC:31578|YES|||||||||||||||||0.0262|0.0045|0.0216|0.002|0.0239|0.0859||||||||||0.02079|0.004945|0|0.01138|0.01152|0.001928|0.06175|0.02532|0.02373|0.01721|0.08706|0.08706|gnomADg_SAS|||||||||||||,T|upstream_gene_variant|MODIFIER|MIR200B|ENSG00000207730|Transcript|ENST00000384997|miRNA||||||||||rs147921662|4218|1||SNV|HGNC|HGNC:31579|YES|||||||||||||||||0.0262|0.0045|0.0216|0.002|0.0239|0.0859||||||||||0.02079|0.004945|0|0.01138|0.01152|0.001928|0.06175|0.02532|0.02373|0.01721|0.08706|0.08706|gnomADg_SAS|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344515|promoter||||||||||rs147921662||||SNV||||||||||||||||||||0.0262|0.0045|0.0216|0.002|0.0239|0.0859||||||||||0.02079|0.004945|0|0.01138|0.01152|0.001928|0.06175|0.02532|0.02373|0.01721|0.08706|0.08706|gnomADg_SAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,9:0.75:11:0,0:1,5:1,5:1,1,5,4 -chr1 1162960 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=11%2C9|1%2C1;DP=22;ECNT=3;GERMQ=71;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=90;POPAF=7.3;TLOD=5.23;SRC=snv;GRP=s001;CSQ=T|upstream_gene_variant|MODIFIER|MIR200A|ENSG00000207607|Transcript|ENST00000384875|miRNA|||||||||||4903|1||SNV|HGNC|HGNC:31578|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|MIR200B|ENSG00000207730|Transcript|ENST00000384997|miRNA|||||||||||4144|1||SNV|HGNC|HGNC:31579|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344515|promoter||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:20,2:0.125:22:0,0:11,1:13,1:11,9,1,1 -chr1 1163041 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|21%2C20;DP=44;ECNT=3;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=48;POPAF=7.3;TLOD=146.18;SRC=snv;GRP=s001;CSQ=T|upstream_gene_variant|MODIFIER|MIR200A|ENSG00000207607|Transcript|ENST00000384875|miRNA||||||||||rs12135382|4822|1||SNV|HGNC|HGNC:31578|YES|||||||||||||||||0.4085|0.2224|0.634|0.2917|0.5765|0.4479||||||||||0.4721|0.2693|0.6615|0.6266|0.5758|0.281|0.4707|0.5411|0.5678|0.5019|0.4543|0.6615|gnomADg_AMI|||1|21686129&36501135&34594039|||||||||,T|upstream_gene_variant|MODIFIER|MIR200B|ENSG00000207730|Transcript|ENST00000384997|miRNA||||||||||rs12135382|4063|1||SNV|HGNC|HGNC:31579|YES|||||||||||||||||0.4085|0.2224|0.634|0.2917|0.5765|0.4479||||||||||0.4721|0.2693|0.6615|0.6266|0.5758|0.281|0.4707|0.5411|0.5678|0.5019|0.4543|0.6615|gnomADg_AMI|||1|21686129&36501135&34594039|||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344515|promoter||||||||||rs12135382||||SNV||||||||||||||||||||0.4085|0.2224|0.634|0.2917|0.5765|0.4479||||||||||0.4721|0.2693|0.6615|0.6266|0.5758|0.281|0.4707|0.5411|0.5678|0.5019|0.4543|0.6615|gnomADg_AMI|||1|21686129&36501135&34594039||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,41:0.961:41:0,0:0,21:0,23:0,0,21,20 -chr1 1163178 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4%2C4|1%2C1;DP=11;ECNT=1;GERMQ=45;MBQ=34,32;MFRL=0,0;MMQ=60,60;MPOS=125;POPAF=7.3;TLOD=5.7;SRC=snv;GRP=s001;CSQ=T|upstream_gene_variant|MODIFIER|MIR200A|ENSG00000207607|Transcript|ENST00000384875|miRNA||||||||||rs984872064|4685|1||SNV|HGNC|HGNC:31578|YES||||||||||||||||||||||||||||||||7.229e-05|0.0002172|0|6.541e-05|0|0|0|0|1.47e-05|0|0|0.0002172|gnomADg_AFR|||||||||||||,T|upstream_gene_variant|MODIFIER|MIR200B|ENSG00000207730|Transcript|ENST00000384997|miRNA||||||||||rs984872064|3926|1||SNV|HGNC|HGNC:31579|YES||||||||||||||||||||||||||||||||7.229e-05|0.0002172|0|6.541e-05|0|0|0|0|1.47e-05|0|0|0.0002172|gnomADg_AFR|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344515|promoter||||||||||rs984872064||||SNV|||||||||||||||||||||||||||||||||||7.229e-05|0.0002172|0|6.541e-05|0|0|0|0|1.47e-05|0|0|0.0002172|gnomADg_AFR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:8,2:0.246:10:0,0:4,1:5,1:4,4,1,1 -chr1 1163531 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=12%2C5|1%2C1;DP=19;ECNT=1;GERMQ=64;MBQ=35,33;MFRL=0,0;MMQ=60,60;MPOS=47;POPAF=7.3;TLOD=5.2;SRC=snv;GRP=s001;CSQ=T|upstream_gene_variant|MODIFIER|MIR200A|ENSG00000207607|Transcript|ENST00000384875|miRNA|||||||||||4332|1||SNV|HGNC|HGNC:31578|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|MIR200B|ENSG00000207730|Transcript|ENST00000384997|miRNA|||||||||||3573|1||SNV|HGNC|HGNC:31579|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344515|promoter||||||||||||||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00494687516|||||||||||||1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||ENSPFM0598|26|Y|-0.120|TFAP2C::MAX||||,T|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00521395904|||||||||||||-1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||ENSPFM0566|14|Y|-0.061|TEAD4::MAX|||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:17,2:0.134:19:0,0:11,1:12,1:12,5,1,1 -chr1 1163718 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=8%2C12|1%2C1;DP=22;ECNT=1;GERMQ=71;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=131;POPAF=7.3;TLOD=5.38;SRC=snv;GRP=s001;CSQ=G|upstream_gene_variant|MODIFIER|MIR200A|ENSG00000207607|Transcript|ENST00000384875|miRNA||||||||||rs1646689218|4145|1||SNV|HGNC|HGNC:31578|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|MIR200B|ENSG00000207730|Transcript|ENST00000384997|miRNA||||||||||rs1646689218|3386|1||SNV|HGNC|HGNC:31579|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344515|promoter||||||||||rs1646689218||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:20,2:0.118:22:4,0:8,1:14,1:8,12,1,1 -chr1 1163962 . A C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|7%2C9;DP=21;ECNT=1;GERMQ=87;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=64;POPAF=7.3;TLOD=55.5;SRC=snv;GRP=s001;CSQ=C|upstream_gene_variant|MODIFIER|MIR200A|ENSG00000207607|Transcript|ENST00000384875|miRNA||||||||||rs9660710|3901|1||SNV|HGNC|HGNC:31578|YES|||||||||||||||||0.8299|0.8298|0.8934|0.6022|0.9523|0.8937||||||||||0.8825|0.8265|0.9901|0.9004|0.9099|0.5748|0.8995|0.9494|0.9302|0.8767|0.8846|0.9901|gnomADg_AMI||||20964851&21686129&35309115&32284927&27374108|||||||||,C|upstream_gene_variant|MODIFIER|MIR200B|ENSG00000207730|Transcript|ENST00000384997|miRNA||||||||||rs9660710|3142|1||SNV|HGNC|HGNC:31579|YES|||||||||||||||||0.8299|0.8298|0.8934|0.6022|0.9523|0.8937||||||||||0.8825|0.8265|0.9901|0.9004|0.9099|0.5748|0.8995|0.9494|0.9302|0.8767|0.8846|0.9901|gnomADg_AMI||||20964851&21686129&35309115&32284927&27374108|||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344515|promoter||||||||||rs9660710||||SNV||||||||||||||||||||0.8299|0.8298|0.8934|0.6022|0.9523|0.8937||||||||||0.8825|0.8265|0.9901|0.9004|0.9099|0.5748|0.8995|0.9494|0.9302|0.8767|0.8846|0.9901|gnomADg_AMI||||20964851&21686129&35309115&32284927&27374108||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,16:0.925:16:0,3:0,7:0,10:0,0,7,9 -chr1 1164679 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=9%2C9|1%2C1;DP=20;ECNT=1;GERMQ=66;MBQ=34,34;MFRL=0,0;MMQ=60,60;MPOS=40;POPAF=7.3;TLOD=5.63;SRC=snv;GRP=s001;CSQ=C|upstream_gene_variant|MODIFIER|MIR429|ENSG00000198976|Transcript|ENST00000362106|miRNA|||||||||||4326|1||SNV|HGNC|HGNC:13784|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|MIR200A|ENSG00000207607|Transcript|ENST00000384875|miRNA|||||||||||3184|1||SNV|HGNC|HGNC:31578|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|MIR200B|ENSG00000207730|Transcript|ENST00000384997|miRNA|||||||||||2425|1||SNV|HGNC|HGNC:31579|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000272141|Transcript|ENST00000606993|lncRNA|||||||||||4678|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344515|promoter||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:18,2:0.154:20:1,0:9,1:10,1:9,9,1,1 -chr1 1164837 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|10%2C10;DP=22;ECNT=2;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=81;POPAF=7.3;TLOD=70.36;SRC=snv;GRP=s001;CSQ=T|upstream_gene_variant|MODIFIER|MIR429|ENSG00000198976|Transcript|ENST00000362106|miRNA||||||||||rs1891905|4168|1||SNV|HGNC|HGNC:13784|YES|||||||||||||||||0.8199|0.7935|0.8991|0.5992|0.9543|0.8885||||||||||0.8847|0.8012|0.9901|0.9138|0.9147|0.6031|0.9238|0.9652|0.9407|0.8878|0.8873|0.9901|gnomADg_AMI||||21686129|||||||||,T|upstream_gene_variant|MODIFIER|MIR200A|ENSG00000207607|Transcript|ENST00000384875|miRNA||||||||||rs1891905|3026|1||SNV|HGNC|HGNC:31578|YES|||||||||||||||||0.8199|0.7935|0.8991|0.5992|0.9543|0.8885||||||||||0.8847|0.8012|0.9901|0.9138|0.9147|0.6031|0.9238|0.9652|0.9407|0.8878|0.8873|0.9901|gnomADg_AMI||||21686129|||||||||,T|upstream_gene_variant|MODIFIER|MIR200B|ENSG00000207730|Transcript|ENST00000384997|miRNA||||||||||rs1891905|2267|1||SNV|HGNC|HGNC:31579|YES|||||||||||||||||0.8199|0.7935|0.8991|0.5992|0.9543|0.8885||||||||||0.8847|0.8012|0.9901|0.9138|0.9147|0.6031|0.9238|0.9652|0.9407|0.8878|0.8873|0.9901|gnomADg_AMI||||21686129|||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000272141|Transcript|ENST00000606993|lncRNA||||||||||rs1891905|4520|1||SNV|||YES|||||||||||||||||0.8199|0.7935|0.8991|0.5992|0.9543|0.8885||||||||||0.8847|0.8012|0.9901|0.9138|0.9147|0.6031|0.9238|0.9652|0.9407|0.8878|0.8873|0.9901|gnomADg_AMI||||21686129|||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344515|promoter||||||||||rs1891905||||SNV||||||||||||||||||||0.8199|0.7935|0.8991|0.5992|0.9543|0.8885||||||||||0.8847|0.8012|0.9901|0.9138|0.9147|0.6031|0.9238|0.9652|0.9407|0.8878|0.8873|0.9901|gnomADg_AMI||||21686129||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,20:0.93:20:0,1:0,10:0,12:0,0,10,10 -chr1 1164939 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C0|4%2C4;DP=10;ECNT=2;GERMQ=48;MBQ=29,33;MFRL=0,0;MMQ=60,60;MPOS=71;POPAF=7.3;TLOD=25.29;SRC=snv;GRP=s001;CSQ=A|upstream_gene_variant|MODIFIER|MIR429|ENSG00000198976|Transcript|ENST00000362106|miRNA||||||||||rs1891904|4066|1||SNV|HGNC|HGNC:13784|YES|||||||||||||||||0.8021|0.8169|0.7954|0.5585|0.9523|0.8834||||||||||0.8788|0.8214|0.9901|0.8202|0.9067|0.576|0.9228|0.9304|0.9398|0.873|0.8825|0.9901|gnomADg_AMI||||21686129|||||||||,A|upstream_gene_variant|MODIFIER|MIR200A|ENSG00000207607|Transcript|ENST00000384875|miRNA||||||||||rs1891904|2924|1||SNV|HGNC|HGNC:31578|YES|||||||||||||||||0.8021|0.8169|0.7954|0.5585|0.9523|0.8834||||||||||0.8788|0.8214|0.9901|0.8202|0.9067|0.576|0.9228|0.9304|0.9398|0.873|0.8825|0.9901|gnomADg_AMI||||21686129|||||||||,A|upstream_gene_variant|MODIFIER|MIR200B|ENSG00000207730|Transcript|ENST00000384997|miRNA||||||||||rs1891904|2165|1||SNV|HGNC|HGNC:31579|YES|||||||||||||||||0.8021|0.8169|0.7954|0.5585|0.9523|0.8834||||||||||0.8788|0.8214|0.9901|0.8202|0.9067|0.576|0.9228|0.9304|0.9398|0.873|0.8825|0.9901|gnomADg_AMI||||21686129|||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000272141|Transcript|ENST00000606993|lncRNA||||||||||rs1891904|4418|1||SNV|||YES|||||||||||||||||0.8021|0.8169|0.7954|0.5585|0.9523|0.8834||||||||||0.8788|0.8214|0.9901|0.8202|0.9067|0.576|0.9228|0.9304|0.9398|0.873|0.8825|0.9901|gnomADg_AMI||||21686129|||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344515|promoter||||||||||rs1891904||||SNV||||||||||||||||||||0.8021|0.8169|0.7954|0.5585|0.9523|0.8834||||||||||0.8788|0.8214|0.9901|0.8202|0.9067|0.576|0.9228|0.9304|0.9398|0.873|0.8825|0.9901|gnomADg_AMI||||21686129||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,8:0.875:9:0,0:0,5:0,6:1,0,4,4 -chr1 1165623 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|11%2C10;DP=21;ECNT=2;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=66;POPAF=7.3;TLOD=77.06;SRC=snv;GRP=s001;CSQ=T|upstream_gene_variant|MODIFIER|MIR429|ENSG00000198976|Transcript|ENST00000362106|miRNA||||||||||rs7549819|3382|1||SNV|HGNC|HGNC:13784|YES|||||||||||||||||0.7975|0.8064|0.7939|0.5536|0.9503|0.8824||||||||||0.8732|0.805|0.9901|0.817|0.9127|0.5646|0.9229|0.962|0.9388|0.8688|0.8779|0.9901|gnomADg_AMI||||30182779&34598837&27603512&31117970&36374407&37324511|||||||||,T|upstream_gene_variant|MODIFIER|MIR200A|ENSG00000207607|Transcript|ENST00000384875|miRNA||||||||||rs7549819|2240|1||SNV|HGNC|HGNC:31578|YES|||||||||||||||||0.7975|0.8064|0.7939|0.5536|0.9503|0.8824||||||||||0.8732|0.805|0.9901|0.817|0.9127|0.5646|0.9229|0.962|0.9388|0.8688|0.8779|0.9901|gnomADg_AMI||||30182779&34598837&27603512&31117970&36374407&37324511|||||||||,T|upstream_gene_variant|MODIFIER|MIR200B|ENSG00000207730|Transcript|ENST00000384997|miRNA||||||||||rs7549819|1481|1||SNV|HGNC|HGNC:31579|YES|||||||||||||||||0.7975|0.8064|0.7939|0.5536|0.9503|0.8824||||||||||0.8732|0.805|0.9901|0.817|0.9127|0.5646|0.9229|0.962|0.9388|0.8688|0.8779|0.9901|gnomADg_AMI||||30182779&34598837&27603512&31117970&36374407&37324511|||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000272141|Transcript|ENST00000606993|lncRNA||||||||||rs7549819|3734|1||SNV|||YES|||||||||||||||||0.7975|0.8064|0.7939|0.5536|0.9503|0.8824||||||||||0.8732|0.805|0.9901|0.817|0.9127|0.5646|0.9229|0.962|0.9388|0.8688|0.8779|0.9901|gnomADg_AMI||||30182779&34598837&27603512&31117970&36374407&37324511|||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344515|promoter||||||||||rs7549819||||SNV||||||||||||||||||||0.7975|0.8064|0.7939|0.5536|0.9503|0.8824||||||||||0.8732|0.805|0.9901|0.817|0.9127|0.5646|0.9229|0.962|0.9388|0.8688|0.8779|0.9901|gnomADg_AMI||||30182779&34598837&27603512&31117970&36374407&37324511||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,21:0.933:21:0,1:0,11:0,13:0,0,11,10 -chr1 1165685 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=8%2C12|1%2C1;DP=23;ECNT=2;GERMQ=71;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=71;POPAF=7.3;TLOD=5.07;SRC=snv;GRP=s001;CSQ=C|upstream_gene_variant|MODIFIER|MIR429|ENSG00000198976|Transcript|ENST00000362106|miRNA|||||||||||3320|1||SNV|HGNC|HGNC:13784|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|MIR200A|ENSG00000207607|Transcript|ENST00000384875|miRNA|||||||||||2178|1||SNV|HGNC|HGNC:31578|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|MIR200B|ENSG00000207730|Transcript|ENST00000384997|miRNA|||||||||||1419|1||SNV|HGNC|HGNC:31579|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000272141|Transcript|ENST00000606993|lncRNA|||||||||||3672|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344515|promoter||||||||||||||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00204861527|||||||||||||1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||ENSPFM0605|6|Y|-0.050|TFAP4::MAX||||,C|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00401077600|||||||||||||1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||ENSPFM0402|8|N|-0.001|MYBL1::MAX||||,C|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00523473113|||||||||||||-1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||ENSPFM0239|17|N|0.001|GCM1::MAX|||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:20,2:0.118:22:2,0:8,1:14,1:8,12,1,1 -chr1 1165943 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5%2C5|3%2C4;DP=17;ECNT=1;GERMQ=37;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=88;POPAF=7.3;TLOD=23.39;SRC=snv;GRP=s001;CSQ=A|upstream_gene_variant|MODIFIER|MIR429|ENSG00000198976|Transcript|ENST00000362106|miRNA|||||||||||3062|1||SNV|HGNC|HGNC:13784|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|MIR200A|ENSG00000207607|Transcript|ENST00000384875|miRNA|||||||||||1920|1||SNV|HGNC|HGNC:31578|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|MIR200B|ENSG00000207730|Transcript|ENST00000384997|miRNA|||||||||||1161|1||SNV|HGNC|HGNC:31579|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000272141|Transcript|ENST00000606993|lncRNA|||||||||||3414|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344515|promoter||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:10,7:0.5:17:0,2:5,3:5,5:5,5,3,4 -chr1 1166689 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|6%2C5;DP=11;ECNT=1;GERMQ=72;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=89;POPAF=7.3;TLOD=40;SRC=snv;GRP=s001;CSQ=G|upstream_gene_variant|MODIFIER|MIR429|ENSG00000198976|Transcript|ENST00000362106|miRNA||||||||||rs9442386|2316|1||SNV|HGNC|HGNC:13784|YES|||||||||||||||||0.9950|0.9985|0.9942|1|0.9831|0.998||||||||||0.9841|0.9963|0.9989|0.9938|0.9986|1|0.9597|1|0.9755|0.9842|0.9932|1|EAS&gnomADg_EAS&gnomADg_MID|||||||||||||,G|upstream_gene_variant|MODIFIER|MIR200A|ENSG00000207607|Transcript|ENST00000384875|miRNA||||||||||rs9442386|1174|1||SNV|HGNC|HGNC:31578|YES|||||||||||||||||0.9950|0.9985|0.9942|1|0.9831|0.998||||||||||0.9841|0.9963|0.9989|0.9938|0.9986|1|0.9597|1|0.9755|0.9842|0.9932|1|EAS&gnomADg_EAS&gnomADg_MID|||||||||||||,G|upstream_gene_variant|MODIFIER|MIR200B|ENSG00000207730|Transcript|ENST00000384997|miRNA||||||||||rs9442386|415|1||SNV|HGNC|HGNC:31579|YES|||||||||||||||||0.9950|0.9985|0.9942|1|0.9831|0.998||||||||||0.9841|0.9963|0.9989|0.9938|0.9986|1|0.9597|1|0.9755|0.9842|0.9932|1|EAS&gnomADg_EAS&gnomADg_MID|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000272141|Transcript|ENST00000606993|lncRNA||||||||||rs9442386|2668|1||SNV|||YES|||||||||||||||||0.9950|0.9985|0.9942|1|0.9831|0.998||||||||||0.9841|0.9963|0.9989|0.9938|0.9986|1|0.9597|1|0.9755|0.9842|0.9932|1|EAS&gnomADg_EAS&gnomADg_MID||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,11:0.875:11:0,0:0,6:0,6:0,0,6,5 -chr1 1167682 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4%2C4|1%2C1;DP=10;ECNT=2;GERMQ=45;MBQ=33,31;MFRL=0,0;MMQ=60,60;MPOS=58;POPAF=7.3;TLOD=5.68;SRC=snv;GRP=s001;CSQ=T|upstream_gene_variant|MODIFIER|MIR429|ENSG00000198976|Transcript|ENST00000362106|miRNA|||||||||||1323|1||SNV|HGNC|HGNC:13784|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|MIR200A|ENSG00000207607|Transcript|ENST00000384875|miRNA|||||||||||181|1||SNV|HGNC|HGNC:31578|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|MIR200B|ENSG00000207730|Transcript|ENST00000384997|miRNA|||||||||||484|1||SNV|HGNC|HGNC:31579|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000272141|Transcript|ENST00000606993|lncRNA|||||||||||1675|1||SNV|||YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:8,2:0.286:10:0,0:4,1:4,1:4,4,1,1 -chr1 1167762 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4%2C4|1%2C1;DP=10;ECNT=2;GERMQ=45;MBQ=35,35;MFRL=0,0;MMQ=60,60;MPOS=13;POPAF=7.3;TLOD=6.48;SRC=snv;GRP=s001;CSQ=G|upstream_gene_variant|MODIFIER|MIR429|ENSG00000198976|Transcript|ENST00000362106|miRNA|||||||||||1243|1||SNV|HGNC|HGNC:13784|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|MIR200A|ENSG00000207607|Transcript|ENST00000384875|miRNA|||||||||||101|1||SNV|HGNC|HGNC:31578|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|MIR200B|ENSG00000207730|Transcript|ENST00000384997|miRNA|||||||||||564|1||SNV|HGNC|HGNC:31579|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000272141|Transcript|ENST00000606993|lncRNA|||||||||||1595|1||SNV|||YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:8,2:0.286:10:0,0:4,1:4,1:4,4,1,1 -chr1 1168162 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=3;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=22;POPAF=7.3;TLOD=7.18;SRC=snv;GRP=s001;CSQ=C|upstream_gene_variant|MODIFIER|MIR429|ENSG00000198976|Transcript|ENST00000362106|miRNA||||||||||rs7518873|843|1||SNV|HGNC|HGNC:13784|YES|||||||||||||||||0.8001|0.8154|0.7939|0.5595|0.9553|0.8722||||||||||0.8754|0.8206|0.9901|0.8181|0.8747|0.544|0.9217|0.9423|0.9377|0.8651|0.8726|0.9901|gnomADg_AMI||||21686129|||||||||,C|downstream_gene_variant|MODIFIER|TTLL10-AS1|ENSG00000205231|Transcript|ENST00000379317|lncRNA||||||||||rs7518873|4894|-1||SNV|HGNC|HGNC:41159|YES|||2||||||||||||||0.8001|0.8154|0.7939|0.5595|0.9553|0.8722||||||||||0.8754|0.8206|0.9901|0.8181|0.8747|0.544|0.9217|0.9423|0.9377|0.8651|0.8726|0.9901|gnomADg_AMI||||21686129|||||||||,C|downstream_gene_variant|MODIFIER|MIR200A|ENSG00000207607|Transcript|ENST00000384875|miRNA||||||||||rs7518873|210|1||SNV|HGNC|HGNC:31578|YES|||||||||||||||||0.8001|0.8154|0.7939|0.5595|0.9553|0.8722||||||||||0.8754|0.8206|0.9901|0.8181|0.8747|0.544|0.9217|0.9423|0.9377|0.8651|0.8726|0.9901|gnomADg_AMI||||21686129|||||||||,C|downstream_gene_variant|MODIFIER|MIR200B|ENSG00000207730|Transcript|ENST00000384997|miRNA||||||||||rs7518873|964|1||SNV|HGNC|HGNC:31579|YES|||||||||||||||||0.8001|0.8154|0.7939|0.5595|0.9553|0.8722||||||||||0.8754|0.8206|0.9901|0.8181|0.8747|0.544|0.9217|0.9423|0.9377|0.8651|0.8726|0.9901|gnomADg_AMI||||21686129|||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000272141|Transcript|ENST00000606993|lncRNA||||||||||rs7518873|1195|1||SNV|||YES|||||||||||||||||0.8001|0.8154|0.7939|0.5595|0.9553|0.8722||||||||||0.8754|0.8206|0.9901|0.8181|0.8747|0.544|0.9217|0.9423|0.9377|0.8651|0.8726|0.9901|gnomADg_AMI||||21686129||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.684:2:0,0:0,1:0,1:0,0,1,1 -chr1 1168578 . T G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|8%2C5;DP=13;ECNT=2;GERMQ=78;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=98;POPAF=7.3;TLOD=47.14;SRC=snv;GRP=s001;CSQ=G|upstream_gene_variant|MODIFIER|MIR429|ENSG00000198976|Transcript|ENST00000362106|miRNA||||||||||rs7521584|427|1||SNV|HGNC|HGNC:13784|YES|||||||||||||||||0.8163|0.7859|0.8991|0.5952|0.9523|0.8865||||||||||0.8818|0.7973|0.9901|0.9089|0.907|0.6007|0.9233|0.9335|0.9387|0.8849|0.8835|0.9901|gnomADg_AMI||||31231424&29956763&30373632|||||||||,G|downstream_gene_variant|MODIFIER|TTLL10-AS1|ENSG00000205231|Transcript|ENST00000379317|lncRNA||||||||||rs7521584|4478|-1||SNV|HGNC|HGNC:41159|YES|||2||||||||||||||0.8163|0.7859|0.8991|0.5952|0.9523|0.8865||||||||||0.8818|0.7973|0.9901|0.9089|0.907|0.6007|0.9233|0.9335|0.9387|0.8849|0.8835|0.9901|gnomADg_AMI||||31231424&29956763&30373632|||||||||,G|downstream_gene_variant|MODIFIER|MIR200A|ENSG00000207607|Transcript|ENST00000384875|miRNA||||||||||rs7521584|626|1||SNV|HGNC|HGNC:31578|YES|||||||||||||||||0.8163|0.7859|0.8991|0.5952|0.9523|0.8865||||||||||0.8818|0.7973|0.9901|0.9089|0.907|0.6007|0.9233|0.9335|0.9387|0.8849|0.8835|0.9901|gnomADg_AMI||||31231424&29956763&30373632|||||||||,G|downstream_gene_variant|MODIFIER|MIR200B|ENSG00000207730|Transcript|ENST00000384997|miRNA||||||||||rs7521584|1380|1||SNV|HGNC|HGNC:31579|YES|||||||||||||||||0.8163|0.7859|0.8991|0.5952|0.9523|0.8865||||||||||0.8818|0.7973|0.9901|0.9089|0.907|0.6007|0.9233|0.9335|0.9387|0.8849|0.8835|0.9901|gnomADg_AMI||||31231424&29956763&30373632|||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000272141|Transcript|ENST00000606993|lncRNA||||||||||rs7521584|779|1||SNV|||YES|||||||||||||||||0.8163|0.7859|0.8991|0.5952|0.9523|0.8865||||||||||0.8818|0.7973|0.9901|0.9089|0.907|0.6007|0.9233|0.9335|0.9387|0.8849|0.8835|0.9901|gnomADg_AMI||||31231424&29956763&30373632||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,13:0.9:13:0,0:0,8:0,8:0,0,8,5 -chr1 1168643 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C5|1%2C1;DP=11;ECNT=2;GERMQ=43;MBQ=35,33;MFRL=0,0;MMQ=60,60;MPOS=100;POPAF=7.3;TLOD=5.8;SRC=snv;GRP=s001;CSQ=T|upstream_gene_variant|MODIFIER|MIR429|ENSG00000198976|Transcript|ENST00000362106|miRNA|||||||||||362|1||SNV|HGNC|HGNC:13784|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|TTLL10-AS1|ENSG00000205231|Transcript|ENST00000379317|lncRNA|||||||||||4413|-1||SNV|HGNC|HGNC:41159|YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|MIR200A|ENSG00000207607|Transcript|ENST00000384875|miRNA|||||||||||691|1||SNV|HGNC|HGNC:31578|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|MIR200B|ENSG00000207730|Transcript|ENST00000384997|miRNA|||||||||||1445|1||SNV|HGNC|HGNC:31579|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000272141|Transcript|ENST00000606993|lncRNA|||||||||||714|1||SNV|||YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,2:0.246:9:0,0:2,1:5,1:2,5,1,1 -chr1 1169204 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=36;POPAF=7.3;TLOD=7.35;SRC=snv;GRP=s001;CSQ=C|downstream_gene_variant|MODIFIER|MIR429|ENSG00000198976|Transcript|ENST00000362106|miRNA||||||||||rs112695918|117|1||SNV|HGNC|HGNC:13784|YES|||||||||||||||||0.0739|0.1498|0.0216|0.0208|0.0298|0.1084||||||||||0.05916|0.1353|0.08681|0.03298|0.02421|0.01405|0.02542|0.03165|0.02699|0.04732|0.09179|0.1498|AFR||||31231424&30373632|||||||||,C|upstream_gene_variant|MODIFIER|TTLL10|ENSG00000162571|Transcript|ENST00000379289|protein_coding||||||||||rs112695918|4676|1||SNV|HGNC|HGNC:26693|YES|NM_001130045.2||2|P1|CCDS44036.1|ENSP00000368591|Q6ZVT0.143||UPI0000205ADB|Q6ZVT0-1|||||||0.0739|0.1498|0.0216|0.0208|0.0298|0.1084||||||||||0.05916|0.1353|0.08681|0.03298|0.02421|0.01405|0.02542|0.03165|0.02699|0.04732|0.09179|0.1498|AFR||||31231424&30373632|||||||MDHSCTRFIHRRGPPTRTRAGFKRGKRPRIQQRPRARVSGTIPASRLHPAPASQPGPCPAPGHCPVGPAHERPMGSSQEEGLRCQPSQPDHDADGHCGPDLEGAERASATPGPPGLLNSHRPADSDDTNAAGPSAALLEGLLLGGGKPSPHSTRPGPFFYIGGSNGATIISSYCKSKGWQRIHDSRRDDYTLKWCEVKSRDSYGSFREGEQLLYQLPNNKLLTTKIGLLSTLRGRARAMSKASKVPGGVQARLEKDAAAPALEDLPWTSPGYLRPQRVLRMEEFFPETYRLDLKHEREAFFTLFDETQIWICKPTASNQGKGIFLLRNQEEVAALQAKTRSMEDDPIHHKTPFRGPQARVVQRYIQNPLLVDGRKFDVRSYLLIACTTPYMIFFGHGYARLTLSLYDPHSSDLGGHLTNQFMQKKSPLYMLLKEHTVWSMEHLNRYISDTFWKARGLAKDWVFTTLKKRMQQIMAHCFLAAKPKLDCKLGYFDLIGCDFLIDDNFKVWLLEMNSNPALHTNCEVLKEVIPGVVIETLDLVLETFRKSLRGQKMLPLLSQRRFVLLHNGEADPRPHLGGSCSLRRWPPLPTRQAKSSGPPMPHAPDQPGARRPAPPPLVPQRPRPPGPDLDSAHDGEPQAPGTEQSGTGNRHPAQEPSPGTAKEEREEPENARP||,C|upstream_gene_variant|MODIFIER|TTLL10|ENSG00000162571|Transcript|ENST00000379290|protein_coding||||||||||rs112695918|4676|1||SNV|HGNC|HGNC:26693||||1|P1|CCDS44036.1|ENSP00000368592|Q6ZVT0.143||UPI0000205ADB|Q6ZVT0-1|||||||0.0739|0.1498|0.0216|0.0208|0.0298|0.1084||||||||||0.05916|0.1353|0.08681|0.03298|0.02421|0.01405|0.02542|0.03165|0.02699|0.04732|0.09179|0.1498|AFR||||31231424&30373632|||||||MDHSCTRFIHRRGPPTRTRAGFKRGKRPRIQQRPRARVSGTIPASRLHPAPASQPGPCPAPGHCPVGPAHERPMGSSQEEGLRCQPSQPDHDADGHCGPDLEGAERASATPGPPGLLNSHRPADSDDTNAAGPSAALLEGLLLGGGKPSPHSTRPGPFFYIGGSNGATIISSYCKSKGWQRIHDSRRDDYTLKWCEVKSRDSYGSFREGEQLLYQLPNNKLLTTKIGLLSTLRGRARAMSKASKVPGGVQARLEKDAAAPALEDLPWTSPGYLRPQRVLRMEEFFPETYRLDLKHEREAFFTLFDETQIWICKPTASNQGKGIFLLRNQEEVAALQAKTRSMEDDPIHHKTPFRGPQARVVQRYIQNPLLVDGRKFDVRSYLLIACTTPYMIFFGHGYARLTLSLYDPHSSDLGGHLTNQFMQKKSPLYMLLKEHTVWSMEHLNRYISDTFWKARGLAKDWVFTTLKKRMQQIMAHCFLAAKPKLDCKLGYFDLIGCDFLIDDNFKVWLLEMNSNPALHTNCEVLKEVIPGVVIETLDLVLETFRKSLRGQKMLPLLSQRRFVLLHNGEADPRPHLGGSCSLRRWPPLPTRQAKSSGPPMPHAPDQPGARRPAPPPLVPQRPRPPGPDLDSAHDGEPQAPGTEQSGTGNRHPAQEPSPGTAKEEREEPENARP||,C|downstream_gene_variant|MODIFIER|TTLL10-AS1|ENSG00000205231|Transcript|ENST00000379317|lncRNA||||||||||rs112695918|3852|-1||SNV|HGNC|HGNC:41159|YES|||2||||||||||||||0.0739|0.1498|0.0216|0.0208|0.0298|0.1084||||||||||0.05916|0.1353|0.08681|0.03298|0.02421|0.01405|0.02542|0.03165|0.02699|0.04732|0.09179|0.1498|AFR||||31231424&30373632|||||||||,C|downstream_gene_variant|MODIFIER|MIR200A|ENSG00000207607|Transcript|ENST00000384875|miRNA||||||||||rs112695918|1252|1||SNV|HGNC|HGNC:31578|YES|||||||||||||||||0.0739|0.1498|0.0216|0.0208|0.0298|0.1084||||||||||0.05916|0.1353|0.08681|0.03298|0.02421|0.01405|0.02542|0.03165|0.02699|0.04732|0.09179|0.1498|AFR||||31231424&30373632|||||||||,C|downstream_gene_variant|MODIFIER|MIR200B|ENSG00000207730|Transcript|ENST00000384997|miRNA||||||||||rs112695918|2006|1||SNV|HGNC|HGNC:31579|YES|||||||||||||||||0.0739|0.1498|0.0216|0.0208|0.0298|0.1084||||||||||0.05916|0.1353|0.08681|0.03298|0.02421|0.01405|0.02542|0.03165|0.02699|0.04732|0.09179|0.1498|AFR||||31231424&30373632|||||||||,C|upstream_gene_variant|MODIFIER|TTLL10|ENSG00000162571|Transcript|ENST00000506177|protein_coding_CDS_not_defined||||||||||rs112695918|4680|1||SNV|HGNC|HGNC:26693||||4||||||||||||||0.0739|0.1498|0.0216|0.0208|0.0298|0.1084||||||||||0.05916|0.1353|0.08681|0.03298|0.02421|0.01405|0.02542|0.03165|0.02699|0.04732|0.09179|0.1498|AFR||||31231424&30373632|||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000272141|Transcript|ENST00000606993|lncRNA||||||||||rs112695918|153|1||SNV|||YES|||||||||||||||||0.0739|0.1498|0.0216|0.0208|0.0298|0.1084||||||||||0.05916|0.1353|0.08681|0.03298|0.02421|0.01405|0.02542|0.03165|0.02699|0.04732|0.09179|0.1498|AFR||||31231424&30373632|||||||||,C|upstream_gene_variant|MODIFIER|TTLL10|ENSG00000162571|Transcript|ENST00000673999|protein_coding||||||||||rs112695918|4694|1|cds_end_NF|SNV|HGNC|HGNC:26693|||||||ENSP00000500959||A0A669K9N4.10|UPI001348EF10||||||||0.0739|0.1498|0.0216|0.0208|0.0298|0.1084||||||||||0.05916|0.1353|0.08681|0.03298|0.02421|0.01405|0.02542|0.03165|0.02699|0.04732|0.09179|0.1498|AFR||||31231424&30373632|||||||MDHSCTRFIHRRGPPTRTRAGFKRGKRPRIQQRPRARVSGTIPASRLHPAPASQPGPCPAPGHCPVGPAHERPMGSSQEEGLRCQPSQPDHDADGHCGPDLEGAERASATPGP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1169591 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C1|3%2C2;DP=6;ECNT=1;GERMQ=41;MBQ=29,31;MFRL=0,0;MMQ=60,60;MPOS=109;POPAF=7.3;TLOD=16.48;SRC=snv;GRP=s001;CSQ=A|downstream_gene_variant|MODIFIER|MIR429|ENSG00000198976|Transcript|ENST00000362106|miRNA|||||||||||504|1||SNV|HGNC|HGNC:13784|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|TTLL10|ENSG00000162571|Transcript|ENST00000379289|protein_coding|||||||||||4289|1||SNV|HGNC|HGNC:26693|YES|NM_001130045.2||2|P1|CCDS44036.1|ENSP00000368591|Q6ZVT0.143||UPI0000205ADB|Q6ZVT0-1|||||||||||||||||||||||||||||||||||||||||||||MDHSCTRFIHRRGPPTRTRAGFKRGKRPRIQQRPRARVSGTIPASRLHPAPASQPGPCPAPGHCPVGPAHERPMGSSQEEGLRCQPSQPDHDADGHCGPDLEGAERASATPGPPGLLNSHRPADSDDTNAAGPSAALLEGLLLGGGKPSPHSTRPGPFFYIGGSNGATIISSYCKSKGWQRIHDSRRDDYTLKWCEVKSRDSYGSFREGEQLLYQLPNNKLLTTKIGLLSTLRGRARAMSKASKVPGGVQARLEKDAAAPALEDLPWTSPGYLRPQRVLRMEEFFPETYRLDLKHEREAFFTLFDETQIWICKPTASNQGKGIFLLRNQEEVAALQAKTRSMEDDPIHHKTPFRGPQARVVQRYIQNPLLVDGRKFDVRSYLLIACTTPYMIFFGHGYARLTLSLYDPHSSDLGGHLTNQFMQKKSPLYMLLKEHTVWSMEHLNRYISDTFWKARGLAKDWVFTTLKKRMQQIMAHCFLAAKPKLDCKLGYFDLIGCDFLIDDNFKVWLLEMNSNPALHTNCEVLKEVIPGVVIETLDLVLETFRKSLRGQKMLPLLSQRRFVLLHNGEADPRPHLGGSCSLRRWPPLPTRQAKSSGPPMPHAPDQPGARRPAPPPLVPQRPRPPGPDLDSAHDGEPQAPGTEQSGTGNRHPAQEPSPGTAKEEREEPENARP||,A|upstream_gene_variant|MODIFIER|TTLL10|ENSG00000162571|Transcript|ENST00000379290|protein_coding|||||||||||4289|1||SNV|HGNC|HGNC:26693||||1|P1|CCDS44036.1|ENSP00000368592|Q6ZVT0.143||UPI0000205ADB|Q6ZVT0-1|||||||||||||||||||||||||||||||||||||||||||||MDHSCTRFIHRRGPPTRTRAGFKRGKRPRIQQRPRARVSGTIPASRLHPAPASQPGPCPAPGHCPVGPAHERPMGSSQEEGLRCQPSQPDHDADGHCGPDLEGAERASATPGPPGLLNSHRPADSDDTNAAGPSAALLEGLLLGGGKPSPHSTRPGPFFYIGGSNGATIISSYCKSKGWQRIHDSRRDDYTLKWCEVKSRDSYGSFREGEQLLYQLPNNKLLTTKIGLLSTLRGRARAMSKASKVPGGVQARLEKDAAAPALEDLPWTSPGYLRPQRVLRMEEFFPETYRLDLKHEREAFFTLFDETQIWICKPTASNQGKGIFLLRNQEEVAALQAKTRSMEDDPIHHKTPFRGPQARVVQRYIQNPLLVDGRKFDVRSYLLIACTTPYMIFFGHGYARLTLSLYDPHSSDLGGHLTNQFMQKKSPLYMLLKEHTVWSMEHLNRYISDTFWKARGLAKDWVFTTLKKRMQQIMAHCFLAAKPKLDCKLGYFDLIGCDFLIDDNFKVWLLEMNSNPALHTNCEVLKEVIPGVVIETLDLVLETFRKSLRGQKMLPLLSQRRFVLLHNGEADPRPHLGGSCSLRRWPPLPTRQAKSSGPPMPHAPDQPGARRPAPPPLVPQRPRPPGPDLDSAHDGEPQAPGTEQSGTGNRHPAQEPSPGTAKEEREEPENARP||,A|downstream_gene_variant|MODIFIER|TTLL10-AS1|ENSG00000205231|Transcript|ENST00000379317|lncRNA|||||||||||3465|-1||SNV|HGNC|HGNC:41159|YES|||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|MIR200A|ENSG00000207607|Transcript|ENST00000384875|miRNA|||||||||||1639|1||SNV|HGNC|HGNC:31578|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|MIR200B|ENSG00000207730|Transcript|ENST00000384997|miRNA|||||||||||2393|1||SNV|HGNC|HGNC:31579|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|TTLL10|ENSG00000162571|Transcript|ENST00000506177|protein_coding_CDS_not_defined|||||||||||4293|1||SNV|HGNC|HGNC:26693||||4||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000272141|Transcript|ENST00000606993|lncRNA|1/1||ENST00000606993.1:n.235C>A||235|||||||1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|TTLL10|ENSG00000162571|Transcript|ENST00000673999|protein_coding|||||||||||4307|1|cds_end_NF|SNV|HGNC|HGNC:26693|||||||ENSP00000500959||A0A669K9N4.10|UPI001348EF10||||||||||||||||||||||||||||||||||||||||||||||MDHSCTRFIHRRGPPTRTRAGFKRGKRPRIQQRPRARVSGTIPASRLHPAPASQPGPCPAPGHCPVGPAHERPMGSSQEEGLRCQPSQPDHDADGHCGPDLEGAERASATPGP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,5:0.667:6:0,0:0,3:1,3:0,1,3,2 -chr1 1169858 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=1;GERMQ=49;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=123;POPAF=7.3;TLOD=10.75;SRC=snv;GRP=s001;CSQ=C|downstream_gene_variant|MODIFIER|MIR429|ENSG00000198976|Transcript|ENST00000362106|miRNA||||||||||rs9442362|771|1||SNV|HGNC|HGNC:13784|YES|||||||||||||||||0.3335|0.447|0.4092|0.0754|0.3111|0.4151||||||||||0.3389|0.4054|0.4112|0.4023|0.3193|0.0586|0.2628|0.3196|0.3136|0.3284|0.398|0.447|AFR|||||||||||||,C|upstream_gene_variant|MODIFIER|TTLL10|ENSG00000162571|Transcript|ENST00000379289|protein_coding||||||||||rs9442362|4022|1||SNV|HGNC|HGNC:26693|YES|NM_001130045.2||2|P1|CCDS44036.1|ENSP00000368591|Q6ZVT0.143||UPI0000205ADB|Q6ZVT0-1|||||||0.3335|0.447|0.4092|0.0754|0.3111|0.4151||||||||||0.3389|0.4054|0.4112|0.4023|0.3193|0.0586|0.2628|0.3196|0.3136|0.3284|0.398|0.447|AFR|||||||||||MDHSCTRFIHRRGPPTRTRAGFKRGKRPRIQQRPRARVSGTIPASRLHPAPASQPGPCPAPGHCPVGPAHERPMGSSQEEGLRCQPSQPDHDADGHCGPDLEGAERASATPGPPGLLNSHRPADSDDTNAAGPSAALLEGLLLGGGKPSPHSTRPGPFFYIGGSNGATIISSYCKSKGWQRIHDSRRDDYTLKWCEVKSRDSYGSFREGEQLLYQLPNNKLLTTKIGLLSTLRGRARAMSKASKVPGGVQARLEKDAAAPALEDLPWTSPGYLRPQRVLRMEEFFPETYRLDLKHEREAFFTLFDETQIWICKPTASNQGKGIFLLRNQEEVAALQAKTRSMEDDPIHHKTPFRGPQARVVQRYIQNPLLVDGRKFDVRSYLLIACTTPYMIFFGHGYARLTLSLYDPHSSDLGGHLTNQFMQKKSPLYMLLKEHTVWSMEHLNRYISDTFWKARGLAKDWVFTTLKKRMQQIMAHCFLAAKPKLDCKLGYFDLIGCDFLIDDNFKVWLLEMNSNPALHTNCEVLKEVIPGVVIETLDLVLETFRKSLRGQKMLPLLSQRRFVLLHNGEADPRPHLGGSCSLRRWPPLPTRQAKSSGPPMPHAPDQPGARRPAPPPLVPQRPRPPGPDLDSAHDGEPQAPGTEQSGTGNRHPAQEPSPGTAKEEREEPENARP||,C|upstream_gene_variant|MODIFIER|TTLL10|ENSG00000162571|Transcript|ENST00000379290|protein_coding||||||||||rs9442362|4022|1||SNV|HGNC|HGNC:26693||||1|P1|CCDS44036.1|ENSP00000368592|Q6ZVT0.143||UPI0000205ADB|Q6ZVT0-1|||||||0.3335|0.447|0.4092|0.0754|0.3111|0.4151||||||||||0.3389|0.4054|0.4112|0.4023|0.3193|0.0586|0.2628|0.3196|0.3136|0.3284|0.398|0.447|AFR|||||||||||MDHSCTRFIHRRGPPTRTRAGFKRGKRPRIQQRPRARVSGTIPASRLHPAPASQPGPCPAPGHCPVGPAHERPMGSSQEEGLRCQPSQPDHDADGHCGPDLEGAERASATPGPPGLLNSHRPADSDDTNAAGPSAALLEGLLLGGGKPSPHSTRPGPFFYIGGSNGATIISSYCKSKGWQRIHDSRRDDYTLKWCEVKSRDSYGSFREGEQLLYQLPNNKLLTTKIGLLSTLRGRARAMSKASKVPGGVQARLEKDAAAPALEDLPWTSPGYLRPQRVLRMEEFFPETYRLDLKHEREAFFTLFDETQIWICKPTASNQGKGIFLLRNQEEVAALQAKTRSMEDDPIHHKTPFRGPQARVVQRYIQNPLLVDGRKFDVRSYLLIACTTPYMIFFGHGYARLTLSLYDPHSSDLGGHLTNQFMQKKSPLYMLLKEHTVWSMEHLNRYISDTFWKARGLAKDWVFTTLKKRMQQIMAHCFLAAKPKLDCKLGYFDLIGCDFLIDDNFKVWLLEMNSNPALHTNCEVLKEVIPGVVIETLDLVLETFRKSLRGQKMLPLLSQRRFVLLHNGEADPRPHLGGSCSLRRWPPLPTRQAKSSGPPMPHAPDQPGARRPAPPPLVPQRPRPPGPDLDSAHDGEPQAPGTEQSGTGNRHPAQEPSPGTAKEEREEPENARP||,C|downstream_gene_variant|MODIFIER|TTLL10-AS1|ENSG00000205231|Transcript|ENST00000379317|lncRNA||||||||||rs9442362|3198|-1||SNV|HGNC|HGNC:41159|YES|||2||||||||||||||0.3335|0.447|0.4092|0.0754|0.3111|0.4151||||||||||0.3389|0.4054|0.4112|0.4023|0.3193|0.0586|0.2628|0.3196|0.3136|0.3284|0.398|0.447|AFR|||||||||||||,C|downstream_gene_variant|MODIFIER|MIR200A|ENSG00000207607|Transcript|ENST00000384875|miRNA||||||||||rs9442362|1906|1||SNV|HGNC|HGNC:31578|YES|||||||||||||||||0.3335|0.447|0.4092|0.0754|0.3111|0.4151||||||||||0.3389|0.4054|0.4112|0.4023|0.3193|0.0586|0.2628|0.3196|0.3136|0.3284|0.398|0.447|AFR|||||||||||||,C|downstream_gene_variant|MODIFIER|MIR200B|ENSG00000207730|Transcript|ENST00000384997|miRNA||||||||||rs9442362|2660|1||SNV|HGNC|HGNC:31579|YES|||||||||||||||||0.3335|0.447|0.4092|0.0754|0.3111|0.4151||||||||||0.3389|0.4054|0.4112|0.4023|0.3193|0.0586|0.2628|0.3196|0.3136|0.3284|0.398|0.447|AFR|||||||||||||,C|upstream_gene_variant|MODIFIER|TTLL10|ENSG00000162571|Transcript|ENST00000506177|protein_coding_CDS_not_defined||||||||||rs9442362|4026|1||SNV|HGNC|HGNC:26693||||4||||||||||||||0.3335|0.447|0.4092|0.0754|0.3111|0.4151||||||||||0.3389|0.4054|0.4112|0.4023|0.3193|0.0586|0.2628|0.3196|0.3136|0.3284|0.398|0.447|AFR|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000272141|Transcript|ENST00000606993|lncRNA|1/1||ENST00000606993.1:n.502T>C||502|||||rs9442362||1||SNV|||YES|||||||||||||||||0.3335|0.447|0.4092|0.0754|0.3111|0.4151||||||||||0.3389|0.4054|0.4112|0.4023|0.3193|0.0586|0.2628|0.3196|0.3136|0.3284|0.398|0.447|AFR|||||||||||||,C|upstream_gene_variant|MODIFIER|TTLL10|ENSG00000162571|Transcript|ENST00000673999|protein_coding||||||||||rs9442362|4040|1|cds_end_NF|SNV|HGNC|HGNC:26693|||||||ENSP00000500959||A0A669K9N4.10|UPI001348EF10||||||||0.3335|0.447|0.4092|0.0754|0.3111|0.4151||||||||||0.3389|0.4054|0.4112|0.4023|0.3193|0.0586|0.2628|0.3196|0.3136|0.3284|0.398|0.447|AFR|||||||||||MDHSCTRFIHRRGPPTRTRAGFKRGKRPRIQQRPRARVSGTIPASRLHPAPASQPGPCPAPGHCPVGPAHERPMGSSQEEGLRCQPSQPDHDADGHCGPDLEGAERASATPGP|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,1:0,1:0,2:0,0,1,2 -chr1 1205607 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=44;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=95;POPAF=7.3;TLOD=3.28;SRC=snv;GRP=s001;CSQ=A|intron_variant|MODIFIER|TNFRSF18|ENSG00000186891|Transcript|ENST00000328596|protein_coding||1/3|ENST00000328596.10:c.188-115G>T|||||||||-1||SNV|HGNC|HGNC:11914||||1||CCDS9.1|ENSP00000328207|Q9Y5U5.184||UPI000002B5CE|Q9Y5U5-2|||||||||||||||||||||||||||||||||||||||||||||MAQHGAMGAFRALCGLALLCALSLGQRPTGGPGCGPGRLLLGTGTDARCCRVHTTRCCRDYPGEECCSEWDCMCVQPEFHCGDPCCTTCRHHPCPPGQGVQSQGKFSFGFQCIDCASGTFSGGHEGHCKPWTDCCWRCRRRPKTPEAASSPRKSGASDRQRRRGGWETCGCEPGRPPGPPTAASPSPGAPQAAGALRSALGRALLPWQQKWVQEGGSDQRPGPCSSAAAAGPCRRERETQSWPPSSLAGPDGVGS||,A|intron_variant|MODIFIER|TNFRSF18|ENSG00000186891|Transcript|ENST00000379265|protein_coding||1/4|ENST00000379265.5:c.188-115G>T|||||||||-1||SNV|HGNC|HGNC:11914||||1|P4|CCDS30552.1|ENSP00000368567|Q9Y5U5.184||UPI000015B651|Q9Y5U5-3|||||||||||||||||||||||||||||||||||||||||||||MAQHGAMGAFRALCGLALLCALSLGQRPTGGPGCGPGRLLLGTGTDARCCRVHTTRCCRDYPGEECCSEWDCMCVQPEFHCGDPCCTTCRHHPCPPGQGVQSQGKFSFGFQCIDCASGTFSGGHEGHCKPWTDCTQFGFLTVFPGNKTHNAVCVPGSPPAEPLGWLTVVLLAVAACVLLLTSAQLGLHIWQLRKTQLLLEVPPSTEDARSCQFPEEERGERSAEEKGRLGDLWV||,A|intron_variant|MODIFIER|TNFRSF18|ENSG00000186891|Transcript|ENST00000379268|protein_coding||1/4|ENST00000379268.7:c.188-115G>T|||||||||-1||SNV|HGNC|HGNC:11914|YES|NM_004195.3||1|A2|CCDS10.1|ENSP00000368570|Q9Y5U5.184||UPI0000035975|Q9Y5U5-1|||||||||||||||||||||||||||||||||||||||||||||MAQHGAMGAFRALCGLALLCALSLGQRPTGGPGCGPGRLLLGTGTDARCCRVHTTRCCRDYPGEECCSEWDCMCVQPEFHCGDPCCTTCRHHPCPPGQGVQSQGKFSFGFQCIDCASGTFSGGHEGHCKPWTDCTQFGFLTVFPGNKTHNAVCVPGSPPAEPLGWLTVVLLAVAACVLLLTSAQLGLHIWQLRSQCMWPRETQLLLEVPPSTEDARSCQFPEEERGERSAEEKGRLGDLWV||,A|5_prime_UTR_variant|MODIFIER|TNFRSF18|ENSG00000186891|Transcript|ENST00000486728|protein_coding|1/4||ENST00000486728.5:c.-144G>T||74|||||||-1||SNV|HGNC|HGNC:11914||||1|A2||ENSP00000462735||J3KT02.64|UPI000268AE24||||||||||||||||||||||||||||||||||||||||||||||MCVQPEFHCGDPCCTTCRHHPCPPGQGVQSQGKFSFGFQCIDCASGTFSGGHEGHCKPWTDCTQFGFLTVFPGNKTHNAVCVPGSPPAEPLGWLTVVLLAVAACVLLLTSAQLGLHIWQLRSQCMWPRETQLLLEVPPSTEDARSCQFPEEERGERSAEEKGRLGDLWV||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344533|promoter||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 1217674 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=10%2C19|1%2C1;DP=31;ECNT=1;GERMQ=93;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=28;POPAF=7.3;TLOD=4.74;SRC=snv;GRP=s001;CSQ=A|missense_variant|MODERATE|SDF4|ENSG00000078808|Transcript|ENST00000263741|protein_coding|7/7||ENST00000263741.12:c.1022C>T|ENSP00000263741.8:p.Pro341Leu|1336|1022|341|P/L|cCa/cTa|||-1||SNV|HGNC|HGNC:24188||||1||CCDS12.2|ENSP00000263741||A0A5F9UJX7.15|UPI00114AF40C|||deleterious_low_confidence(0)|possibly_damaging(0.856)||||||||||||||||||||||||||||||||||||||||||MASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEETQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDRKKEFEELIDSNHDGIVTAEELENVPTLPLQPIGTLNSHFVRLAAELGGGKATLTCAPLARRATWTP||,A|synonymous_variant|LOW|SDF4|ENSG00000078808|Transcript|ENST00000360001|protein_coding|7/7||ENST00000360001.12:c.906C>T|ENSP00000353094.7:p.Pro302%3D|1190|906|302|P|ccC/ccT|||-1||SNV|HGNC|HGNC:24188|YES|NM_016176.6||1|P1|CCDS30553.2|ENSP00000353094||A0A5F9UP49.15|UPI0000205990||||||||||||||||||||||||||||||||||||||||||||||MASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEETQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDRKKEFEELIDSNHDGIVTAEELESYMDPMNEYNALNEAKQMIAVADENQNHHLEPEEVLKYSEFFTGSKLVDYARSVHEEF||,A|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000379236|protein_coding|||||||||||3521|-1||SNV|HGNC|HGNC:11918|YES|NM_003327.4||1|P1|CCDS11.1|ENSP00000368538|P43489.186||UPI00001370E5||1||||||||||||||||||||||||||||||||||||||||||||MCVGARRLGRGPCAALLLLGLGLSTVTGLHCVGDTYPSNDRCCHECRPGNGMVSRCSRSQNTVCRPCGPGFYNDVVSSKPCKPCTWCNLRSGSERKQLCTATQDTVCRCRAGTQPLDSYKPGVDCAPCPPGHFSPGDNQACKPWTNCTLAGKHTLQPASNSSDAICEDRDPPATQPQETQGPPARPITVQPTEAWPRTSQGPSTRPVEVPGGRAVAAILGLGLVLGLLGPLAILLALYLLRRDQRLPPDAHKPPGGGSFRTPIQEEQADAHSTLAKI||,A|downstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000403997|protein_coding|||||||||||849|-1|cds_start_NF&cds_end_NF|SNV|HGNC|HGNC:24188||||3|||ENSP00000384207||H0Y3T6.65|UPI000059CF48||||||||||||||||||||||||||||||||||||||||||||||XLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEESSTSRNFLDLRAGVCRPRYPQAAPLSAQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDR||,A|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000453580|protein_coding_CDS_not_defined|||||||||||4176|-1||SNV|HGNC|HGNC:11918||||3||||||||1||||||||||||||||||||||||||||||||||||||||||||||,A|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000465727|nonsense_mediated_decay|7/7||ENST00000465727.5:c.*294C>T||1352|||||||-1||SNV|HGNC|HGNC:24188||||2|||ENSP00000435962||G3V1E2.100|UPI000045610D||||||||||||||||||||||||||||||||||||||||||||||MVWPWVAMASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEESCAPLSTGSPGEPEGPLVPGGQPPCRPAADGGGVPVVPPPRAQPGNAQVHGEGDRPGPGPGR||,A|non_coding_transcript_exon_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000478938|retained_intron|2/2||ENST00000478938.1:n.1851C>T||1851|||||||-1||SNV|HGNC|HGNC:24188||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000494748|retained_intron|3/3||ENST00000494748.1:n.2774C>T||2774|||||||-1||SNV|HGNC|HGNC:24188||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000497869|retained_intron|||||||||||3536|-1||SNV|HGNC|HGNC:11918||||2||||||||1||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000699969|protein_coding|||||||||||3521|-1||SNV|HGNC|HGNC:11918|||||||ENSP00000514726||A0A8V8TPN6.3|UPI0020B0CB92||1||||||||||||||||||||||||||||||||||||||||||||MCVGARRLGRGPCAALLLLGLGLSTVTGLHCVGDTYPSNDRCCHECRPGNGMVSRCSRSQNTVCRPCGPGFYNDVVSSKPCKPCTWCNLRSGSERKQLCTATQDTVCRCRAGTQPLDSYKPGVGELGGCGRRLGVCIAAVCDADGPWAAGTWPHRCLLWHPQDRAPGCTLAGKHTLQPASNSSDAICEDRDPPATQPQETQGPPARPITVQPTEAWPRTSQGPSTRPVEVPGGRAVAAILGLGLVLGLLGPLAILLALYLLRRDQRLPPDAHKPPGGGSFRTPIQEEQADAHSTLAKI||,A|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000699970|non_stop_decay|||||||||||3541|-1||SNV|HGNC|HGNC:11918|||||||ENSP00000514727||A0A8V8TQV3.3|UPI0020B02740||1||||||||||||||||||||||||||||||||||||||||||||MCVGARRLGRGPCAALLLLGLGLSTVTGLHCVGDTYPSNDRCCHECRPGNGMVSRCSRSQNTVCRPCGPGFYNDVEVGVSGSSCARPHRTQSAAAGRAPSPWTATSLELTVPPALQGTSPQATTRPASPGPTAPWLGSTPCSRPAIARTQSVRTGTPQPRSPRRPRAPRPGPSLSSPLKPGPEPHRDPPPGPWRSPGAVRLPPSWAWAWCWGCWAPWPSCWPCTCSGGTRGCPPMPTSPLGEAVSGPPSKRSRPTPTPPWPRSDLGPPRWTLGPARLEPGGSAGRAGQVQAACPATLLGQLCTVLGADGCLRLSAYVCHAYLLPRGTTIKTLADG||,A|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000699971|protein_coding|||||||||||3521|-1||SNV|HGNC|HGNC:11918|||||||ENSP00000514728||A0A8V8TP52.3|UPI0020B071B7||1||||||||||||||||||||||||||||||||||||||||||||MCVGARRLGRGPCAALLLLGLGLSTVTGLHCVGDTYPSNDRCCHECRPGNGMVSRCSRSQNTVCRPCGPGFYNDVVSSKPCKPCTWCNLRSGSERKQLCTATQDTVCRCRAGTQPLDSYKPGVDCAPCPPGHFSPGDNQACKPWTNCTLAGKHTLQPASNSSDAICEDRDPPATQPQETQGPPARPITVQPTEAWPRTSQGPSTRPVEVPGGKGAWPSPAGPPTRIGEGEGGMGAPPVDPTQQTPSCRPCGCRHPGPGPGAGAAGPPGHPAGPVPAPEGPEAAPRCPQAPWGRQFPDPHPRGAGRRPLHPGQDLTWAHQGGRWAPPGWSPEGLLGEQGRCRPPAPPRSWANSAPF||,A|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000699972|retained_intron|||||||||||3521|-1||SNV|HGNC|HGNC:11918||||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000699973|nonsense_mediated_decay|||||||||||3521|-1||SNV|HGNC|HGNC:11918|||||||ENSP00000514729||A0A8V8TPH3.3|UPI0020B080BE||1||||||||||||||||||||||||||||||||||||||||||||MCVGARRLGRGPCAALLLLGLGLSTVTGLHCVGDTYPSNDRCCHECRPGNGMVSRCSRSQNTVCRPCGPGFYNDVVSSKPCKPCTWCNLRSGSERKQLCTATQDTVCRCRAGTQPLDSYKPGVGELGGCGRRLGVCIAAVCDADGPWAAGTWPHRCLLWHPQDRAPGLCPLPSRALLPRRQPGLQALDQLHLGWEAHPAAGQQ||,A|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000699974|protein_coding|||||||||||3521|-1||SNV|HGNC|HGNC:11918||||||CCDS90838.1|ENSP00000514730||A0A8V8TQH5.3|UPI000387C2CB||1||||||||||||||||||||||||||||||||||||||||||||MCVGARRLGRGPCAALLLLGLGLSTVTGLHCVGDTYPSNDRCCHECRPGNGMVSRCSRSQNTVCRPCGPGFYNDVVSSKPCKPCTWCNLRSGSERKQLCTATQDTVCRCRAGTQPLDSYKPGVDCAPCPPGHFSPGDNQACKPWTNCTLAGKHTLQPASNSSDAICEDRDPPATQPQETQGPPARPITVQPTEAWPRTSQGPSTRPVEVPGGRAVAAILGLGLVLGLLGPLAILLALYLLRRDQRLPPDAHKPPGECLMALPHCSWRVRPTHQSLLFSSPGGGSFRTPIQEEQADAHSTLAKI||,A|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000699975|protein_coding|||||||||||3521|-1||SNV|HGNC|HGNC:11918|||||||ENSP00000514731||A0A8V8TPP1.3|UPI0020B0EF97||1||||||||||||||||||||||||||||||||||||||||||||MCVGARRLGRGPCAALLLLGLGLSTVTGLHCVGDTYPSNDRCCHECRPGNGMVSRCSRSQNTVCRPCGPGFYNDVVSSKPCKPCTWCNLRSGSERKQLCTATQDTVCRCRAGTQPLDSYKPGVGRAVAAILGLGLVLGLLGPLAILLALYLLRRDQRLPPDAHKPPGGGSFRTPIQEEQADAHSTLAKI||,A|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000699976|protein_coding|||||||||||3521|-1||SNV|HGNC|HGNC:11918|||||||ENSP00000514732||A0A8V8TQV7.3|UPI0020AFDDC2||1||||||||||||||||||||||||||||||||||||||||||||MCVGARRLGRGPCAALLLLGLGLSTVTGLHCVGDTYPSNDRCCHECRPGNGMVSRCSRSQNTVCRPCGPGFYNDVVSSKPCKPCTWCNLRSGSERKQLCTATQDTVCRCRAGTQPLDSYKPGVDCAPCPPGHFSPGDNQACKPWTKPCGCRHPGPGPGAGAAGPPGHPAGPVPAPEGPEAAPRCPQAPWGRQFPDPHPRGAGRRPLHPGQDLTWAHQGGRWAPPGWSPEGLLGEQGRCRPPAPPRSWANSAPF||,A|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000699977|protein_coding|||||||||||3521|-1||SNV|HGNC|HGNC:11918|||||||ENSP00000514733||A0A8V8TP56.3|UPI0020B07D11||1||||||||||||||||||||||||||||||||||||||||||||MCVGARRLGRGPCAALLLLGLGLSTVTGLHCVGDTYPSNDRCCHECRPGNGMVSRCSRSQNTVCRPCGPGFYNDVVSSKPCKPCTWCNLRSGSERKQLCTATQDTVCRCRAGTQPLDSYKPGVDCAPCPPGHFSPGDNQACKPWTNCTLAGKHTLQPASNSSDAICEDRDPPATQPQETQGPPARPITVQPTEAWPRTSQGPSTRPVEVPGGGGSFRTPIQEEQADAHSTLAKI||,A|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000699978|non_stop_decay|||||||||||3521|-1||SNV|HGNC|HGNC:11918|||||||ENSP00000514734||A0A8V8TPH7.3|UPI0020B07990||1||||||||||||||||||||||||||||||||||||||||||||MCVGARRLGRGPCAALLLLGLGLSTVTGLHCVGDTYPSNDRCCHECRPGNGMEVGVSGSSCARPHRTQSAAAGRAPSPWTATSLELTVPPALQGTSPQATTRPASPGPTAPWLGSTPCSRPAIARTQSVRTGTPQPRSPRRPRAPRPGPSLSSPLKPGPEPHRDPPPGPWRSPGAVRLPPSWAWAWCWGCWAPWPSCWPCTCSGGTRGCPPMPTSPLGEAVSGPPSKRSRPTPTPPWPRSDLGPPRWTLGPARLEPGGSAGRAGQVQAACPATLLGQLCTVLGADGCLRLSAYVCHAYLLPRGTTIKTLAD||,A|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000699979|non_stop_decay|||||||||||3522|-1||SNV|HGNC|HGNC:11918|||||||ENSP00000514735||A0A8V8TQH9.3|UPI0020B09817||1||||||||||||||||||||||||||||||||||||||||||||MCVGARRLGRGPCAALLLLGLGLSTVTGLHCVGDTYPSNDRCCHECRPGNGMVSRCSRSQNTVCRPCGPGFYNDVVSSKPCKPCTWCNLRSGSERKQLCTATQDTVCRCRAGTQPLDSYKPGVAAPWLGSTPCSRPAIARTQSVRTGTPQPRSPRRPRAPRPGPSLSSPLKPGPEPHRDPPPGPWRSPGAVRLPPSWAWAWCWGCWAPWPSCWPCTCSGGTRGCPPMPTSPLGEAVSGPPSKRSRPTPTPPWPRSDLGPPRWTLGPARLEPGGSAGRAGQVQAACPATLLGQLCTVLGADGCLRLSAYVCHAYLLPRGTTIKTLA||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344538|promoter||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:29,2:0.074:31:7,0:10,1:24,1:10,19,1,1 -chr1 1218523 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=28%2C29|1%2C1;DP=61;ECNT=1;GERMQ=93;MBQ=32,34;MFRL=0,0;MMQ=60,60;MPOS=79;POPAF=7.3;TLOD=4.6;SRC=snv;GRP=s001;CSQ=C|missense_variant|MODERATE|SDF4|ENSG00000078808|Transcript|ENST00000263741|protein_coding|6/7||ENST00000263741.12:c.826A>G|ENSP00000263741.8:p.Lys276Glu|1140|826|276|K/E|Aaa/Gaa|||-1||SNV|HGNC|HGNC:24188||||1||CCDS12.2|ENSP00000263741||A0A5F9UJX7.15|UPI00114AF40C|||deleterious(0)|possibly_damaging(0.568)||||||||||||||||||||||||||||||||||||||||||MASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEETQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDRKKEFEELIDSNHDGIVTAEELENVPTLPLQPIGTLNSHFVRLAAELGGGKATLTCAPLARRATWTP||,C|missense_variant|MODERATE|SDF4|ENSG00000078808|Transcript|ENST00000360001|protein_coding|6/7||ENST00000360001.12:c.826A>G|ENSP00000353094.7:p.Lys276Glu|1110|826|276|K/E|Aaa/Gaa|||-1||SNV|HGNC|HGNC:24188|YES|NM_016176.6||1|P1|CCDS30553.2|ENSP00000353094||A0A5F9UP49.15|UPI0000205990|||deleterious(0)|benign(0.272)||||||||||||||||||||||||||||||||||||||||||MASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEETQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDRKKEFEELIDSNHDGIVTAEELESYMDPMNEYNALNEAKQMIAVADENQNHHLEPEEVLKYSEFFTGSKLVDYARSVHEEF||,C|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000379236|protein_coding|||||||||||4370|-1||SNV|HGNC|HGNC:11918|YES|NM_003327.4||1|P1|CCDS11.1|ENSP00000368538|P43489.186||UPI00001370E5||1||||||||||||||||||||||||||||||||||||||||||||MCVGARRLGRGPCAALLLLGLGLSTVTGLHCVGDTYPSNDRCCHECRPGNGMVSRCSRSQNTVCRPCGPGFYNDVVSSKPCKPCTWCNLRSGSERKQLCTATQDTVCRCRAGTQPLDSYKPGVDCAPCPPGHFSPGDNQACKPWTNCTLAGKHTLQPASNSSDAICEDRDPPATQPQETQGPPARPITVQPTEAWPRTSQGPSTRPVEVPGGRAVAAILGLGLVLGLLGPLAILLALYLLRRDQRLPPDAHKPPGGGSFRTPIQEEQADAHSTLAKI||,C|incomplete_terminal_codon_variant&coding_sequence_variant|LOW|SDF4|ENSG00000078808|Transcript|ENST00000403997|protein_coding|5/5||ENST00000403997.2:c.730A>G|ENSP00000384207.2:p.Ter244%3D|728|730|244|X|A/G|||-1|cds_start_NF&cds_end_NF|SNV|HGNC|HGNC:24188||||3|||ENSP00000384207||H0Y3T6.65|UPI000059CF48||||||||||||||||||||||||||||||||||||||||||||||XLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEESSTSRNFLDLRAGVCRPRYPQAAPLSAQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDR||,C|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000465727|nonsense_mediated_decay|6/7||ENST00000465727.5:c.*98A>G||1156|||||||-1||SNV|HGNC|HGNC:24188||||2|||ENSP00000435962||G3V1E2.100|UPI000045610D||||||||||||||||||||||||||||||||||||||||||||||MVWPWVAMASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEESCAPLSTGSPGEPEGPLVPGGQPPCRPAADGGGVPVVPPPRAQPGNAQVHGEGDRPGPGPGR||,C|non_coding_transcript_exon_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000478938|retained_intron|1/2||ENST00000478938.1:n.1771A>G||1771|||||||-1||SNV|HGNC|HGNC:24188||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000494748|retained_intron|2/3||ENST00000494748.1:n.2694A>G||2694|||||||-1||SNV|HGNC|HGNC:24188||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000497869|retained_intron|||||||||||4385|-1||SNV|HGNC|HGNC:11918||||2||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000699969|protein_coding|||||||||||4370|-1||SNV|HGNC|HGNC:11918|||||||ENSP00000514726||A0A8V8TPN6.3|UPI0020B0CB92||1||||||||||||||||||||||||||||||||||||||||||||MCVGARRLGRGPCAALLLLGLGLSTVTGLHCVGDTYPSNDRCCHECRPGNGMVSRCSRSQNTVCRPCGPGFYNDVVSSKPCKPCTWCNLRSGSERKQLCTATQDTVCRCRAGTQPLDSYKPGVGELGGCGRRLGVCIAAVCDADGPWAAGTWPHRCLLWHPQDRAPGCTLAGKHTLQPASNSSDAICEDRDPPATQPQETQGPPARPITVQPTEAWPRTSQGPSTRPVEVPGGRAVAAILGLGLVLGLLGPLAILLALYLLRRDQRLPPDAHKPPGGGSFRTPIQEEQADAHSTLAKI||,C|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000699970|non_stop_decay|||||||||||4390|-1||SNV|HGNC|HGNC:11918|||||||ENSP00000514727||A0A8V8TQV3.3|UPI0020B02740||1||||||||||||||||||||||||||||||||||||||||||||MCVGARRLGRGPCAALLLLGLGLSTVTGLHCVGDTYPSNDRCCHECRPGNGMVSRCSRSQNTVCRPCGPGFYNDVEVGVSGSSCARPHRTQSAAAGRAPSPWTATSLELTVPPALQGTSPQATTRPASPGPTAPWLGSTPCSRPAIARTQSVRTGTPQPRSPRRPRAPRPGPSLSSPLKPGPEPHRDPPPGPWRSPGAVRLPPSWAWAWCWGCWAPWPSCWPCTCSGGTRGCPPMPTSPLGEAVSGPPSKRSRPTPTPPWPRSDLGPPRWTLGPARLEPGGSAGRAGQVQAACPATLLGQLCTVLGADGCLRLSAYVCHAYLLPRGTTIKTLADG||,C|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000699971|protein_coding|||||||||||4370|-1||SNV|HGNC|HGNC:11918|||||||ENSP00000514728||A0A8V8TP52.3|UPI0020B071B7||1||||||||||||||||||||||||||||||||||||||||||||MCVGARRLGRGPCAALLLLGLGLSTVTGLHCVGDTYPSNDRCCHECRPGNGMVSRCSRSQNTVCRPCGPGFYNDVVSSKPCKPCTWCNLRSGSERKQLCTATQDTVCRCRAGTQPLDSYKPGVDCAPCPPGHFSPGDNQACKPWTNCTLAGKHTLQPASNSSDAICEDRDPPATQPQETQGPPARPITVQPTEAWPRTSQGPSTRPVEVPGGKGAWPSPAGPPTRIGEGEGGMGAPPVDPTQQTPSCRPCGCRHPGPGPGAGAAGPPGHPAGPVPAPEGPEAAPRCPQAPWGRQFPDPHPRGAGRRPLHPGQDLTWAHQGGRWAPPGWSPEGLLGEQGRCRPPAPPRSWANSAPF||,C|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000699972|retained_intron|||||||||||4370|-1||SNV|HGNC|HGNC:11918||||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000699973|nonsense_mediated_decay|||||||||||4370|-1||SNV|HGNC|HGNC:11918|||||||ENSP00000514729||A0A8V8TPH3.3|UPI0020B080BE||1||||||||||||||||||||||||||||||||||||||||||||MCVGARRLGRGPCAALLLLGLGLSTVTGLHCVGDTYPSNDRCCHECRPGNGMVSRCSRSQNTVCRPCGPGFYNDVVSSKPCKPCTWCNLRSGSERKQLCTATQDTVCRCRAGTQPLDSYKPGVGELGGCGRRLGVCIAAVCDADGPWAAGTWPHRCLLWHPQDRAPGLCPLPSRALLPRRQPGLQALDQLHLGWEAHPAAGQQ||,C|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000699974|protein_coding|||||||||||4370|-1||SNV|HGNC|HGNC:11918||||||CCDS90838.1|ENSP00000514730||A0A8V8TQH5.3|UPI000387C2CB||1||||||||||||||||||||||||||||||||||||||||||||MCVGARRLGRGPCAALLLLGLGLSTVTGLHCVGDTYPSNDRCCHECRPGNGMVSRCSRSQNTVCRPCGPGFYNDVVSSKPCKPCTWCNLRSGSERKQLCTATQDTVCRCRAGTQPLDSYKPGVDCAPCPPGHFSPGDNQACKPWTNCTLAGKHTLQPASNSSDAICEDRDPPATQPQETQGPPARPITVQPTEAWPRTSQGPSTRPVEVPGGRAVAAILGLGLVLGLLGPLAILLALYLLRRDQRLPPDAHKPPGECLMALPHCSWRVRPTHQSLLFSSPGGGSFRTPIQEEQADAHSTLAKI||,C|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000699975|protein_coding|||||||||||4370|-1||SNV|HGNC|HGNC:11918|||||||ENSP00000514731||A0A8V8TPP1.3|UPI0020B0EF97||1||||||||||||||||||||||||||||||||||||||||||||MCVGARRLGRGPCAALLLLGLGLSTVTGLHCVGDTYPSNDRCCHECRPGNGMVSRCSRSQNTVCRPCGPGFYNDVVSSKPCKPCTWCNLRSGSERKQLCTATQDTVCRCRAGTQPLDSYKPGVGRAVAAILGLGLVLGLLGPLAILLALYLLRRDQRLPPDAHKPPGGGSFRTPIQEEQADAHSTLAKI||,C|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000699976|protein_coding|||||||||||4370|-1||SNV|HGNC|HGNC:11918|||||||ENSP00000514732||A0A8V8TQV7.3|UPI0020AFDDC2||1||||||||||||||||||||||||||||||||||||||||||||MCVGARRLGRGPCAALLLLGLGLSTVTGLHCVGDTYPSNDRCCHECRPGNGMVSRCSRSQNTVCRPCGPGFYNDVVSSKPCKPCTWCNLRSGSERKQLCTATQDTVCRCRAGTQPLDSYKPGVDCAPCPPGHFSPGDNQACKPWTKPCGCRHPGPGPGAGAAGPPGHPAGPVPAPEGPEAAPRCPQAPWGRQFPDPHPRGAGRRPLHPGQDLTWAHQGGRWAPPGWSPEGLLGEQGRCRPPAPPRSWANSAPF||,C|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000699977|protein_coding|||||||||||4370|-1||SNV|HGNC|HGNC:11918|||||||ENSP00000514733||A0A8V8TP56.3|UPI0020B07D11||1||||||||||||||||||||||||||||||||||||||||||||MCVGARRLGRGPCAALLLLGLGLSTVTGLHCVGDTYPSNDRCCHECRPGNGMVSRCSRSQNTVCRPCGPGFYNDVVSSKPCKPCTWCNLRSGSERKQLCTATQDTVCRCRAGTQPLDSYKPGVDCAPCPPGHFSPGDNQACKPWTNCTLAGKHTLQPASNSSDAICEDRDPPATQPQETQGPPARPITVQPTEAWPRTSQGPSTRPVEVPGGGGSFRTPIQEEQADAHSTLAKI||,C|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000699978|non_stop_decay|||||||||||4370|-1||SNV|HGNC|HGNC:11918|||||||ENSP00000514734||A0A8V8TPH7.3|UPI0020B07990||1||||||||||||||||||||||||||||||||||||||||||||MCVGARRLGRGPCAALLLLGLGLSTVTGLHCVGDTYPSNDRCCHECRPGNGMEVGVSGSSCARPHRTQSAAAGRAPSPWTATSLELTVPPALQGTSPQATTRPASPGPTAPWLGSTPCSRPAIARTQSVRTGTPQPRSPRRPRAPRPGPSLSSPLKPGPEPHRDPPPGPWRSPGAVRLPPSWAWAWCWGCWAPWPSCWPCTCSGGTRGCPPMPTSPLGEAVSGPPSKRSRPTPTPPWPRSDLGPPRWTLGPARLEPGGSAGRAGQVQAACPATLLGQLCTVLGADGCLRLSAYVCHAYLLPRGTTIKTLAD||,C|upstream_gene_variant|MODIFIER|TNFRSF4|ENSG00000186827|Transcript|ENST00000699979|non_stop_decay|||||||||||4371|-1||SNV|HGNC|HGNC:11918|||||||ENSP00000514735||A0A8V8TQH9.3|UPI0020B09817||1||||||||||||||||||||||||||||||||||||||||||||MCVGARRLGRGPCAALLLLGLGLSTVTGLHCVGDTYPSNDRCCHECRPGNGMVSRCSRSQNTVCRPCGPGFYNDVVSSKPCKPCTWCNLRSGSERKQLCTATQDTVCRCRAGTQPLDSYKPGVAAPWLGSTPCSRPAIARTQSVRTGTPQPRSPRRPRAPRPGPSLSSPLKPGPEPHRDPPPGPWRSPGAVRLPPSWAWAWCWGCWAPWPSCWPCTCSGGTRGCPPMPTSPLGEAVSGPPSKRSRPTPTPPWPRSDLGPPRWTLGPARLEPGGSAGRAGQVQAACPATLLGQLCTVLGADGCLRLSAYVCHAYLLPRGTTIKTLA|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:57,2:0.057:59:4,0:28,1:32,1:28,29,1,1 -chr1 1221034 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C4|1%2C1;DP=8;ECNT=1;GERMQ=42;MBQ=34,34;MFRL=0,0;MMQ=60,60;MPOS=75;POPAF=7.3;TLOD=6.18;SRC=snv;GRP=s001;CSQ=T|intron_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000263741|protein_coding||4/6|ENST00000263741.12:c.557-2107G>A|||||||rs923613541||-1||SNV|HGNC|HGNC:24188||||1||CCDS12.2|ENSP00000263741||A0A5F9UJX7.15|UPI00114AF40C|||||||||||||||||||||||6.569e-06|0|0|0|0|0|9.413e-05|0|0|0|0|9.413e-05|gnomADg_FIN|||||||||||MASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEETQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDRKKEFEELIDSNHDGIVTAEELENVPTLPLQPIGTLNSHFVRLAAELGGGKATLTCAPLARRATWTP||,T|intron_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000360001|protein_coding||4/6|ENST00000360001.12:c.557-2107G>A|||||||rs923613541||-1||SNV|HGNC|HGNC:24188|YES|NM_016176.6||1|P1|CCDS30553.2|ENSP00000353094||A0A5F9UP49.15|UPI0000205990|||||||||||||||||||||||6.569e-06|0|0|0|0|0|9.413e-05|0|0|0|0|9.413e-05|gnomADg_FIN|||||||||||MASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEETQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDRKKEFEELIDSNHDGIVTAEELESYMDPMNEYNALNEAKQMIAVADENQNHHLEPEEVLKYSEFFTGSKLVDYARSVHEEF||,T|intron_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000403997|protein_coding||3/4|ENST00000403997.2:c.381-2029G>A|||||||rs923613541||-1|cds_start_NF&cds_end_NF|SNV|HGNC|HGNC:24188||||3|||ENSP00000384207||H0Y3T6.65|UPI000059CF48|||||||||||||||||||||||6.569e-06|0|0|0|0|0|9.413e-05|0|0|0|0|9.413e-05|gnomADg_FIN|||||||||||XLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEESSTSRNFLDLRAGVCRPRYPQAAPLSAQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDR||,T|intron_variant&NMD_transcript_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000465727|nonsense_mediated_decay||4/6|ENST00000465727.5:c.578-2091G>A|||||||rs923613541||-1||SNV|HGNC|HGNC:24188||||2|||ENSP00000435962||G3V1E2.100|UPI000045610D|||||||||||||||||||||||6.569e-06|0|0|0|0|0|9.413e-05|0|0|0|0|9.413e-05|gnomADg_FIN|||||||||||MVWPWVAMASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEESCAPLSTGSPGEPEGPLVPGGQPPCRPAADGGGVPVVPPPRAQPGNAQVHGEGDRPGPGPGR||,T|upstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000478938|retained_intron||||||||||rs923613541|741|-1||SNV|HGNC|HGNC:24188||||2|||||||||||||||||||||||||||||6.569e-06|0|0|0|0|0|9.413e-05|0|0|0|0|9.413e-05|gnomADg_FIN|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000494748|retained_intron|1/3||ENST00000494748.1:n.318G>A||318|||||rs923613541||-1||SNV|HGNC|HGNC:24188||||2|||||||||||||||||||||||||||||6.569e-06|0|0|0|0|0|9.413e-05|0|0|0|0|9.413e-05|gnomADg_FIN||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,2:0.286:8:1,0:2,1:4,1:2,4,1,1 -chr1 1221498 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C2|2%2C2;DP=6;ECNT=1;GERMQ=36;MBQ=32,35;MFRL=0,0;MMQ=60,60;MPOS=91;POPAF=7.3;TLOD=13.93;SRC=snv;GRP=s001;CSQ=C|intron_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000263741|protein_coding||4/6|ENST00000263741.12:c.556+1746A>G|||||||||-1||SNV|HGNC|HGNC:24188||||1||CCDS12.2|ENSP00000263741||A0A5F9UJX7.15|UPI00114AF40C||||||||||||||||||||||||||||||||||||||||||||||MASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEETQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDRKKEFEELIDSNHDGIVTAEELENVPTLPLQPIGTLNSHFVRLAAELGGGKATLTCAPLARRATWTP||,C|intron_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000360001|protein_coding||4/6|ENST00000360001.12:c.556+1746A>G|||||||||-1||SNV|HGNC|HGNC:24188|YES|NM_016176.6||1|P1|CCDS30553.2|ENSP00000353094||A0A5F9UP49.15|UPI0000205990||||||||||||||||||||||||||||||||||||||||||||||MASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEETQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDRKKEFEELIDSNHDGIVTAEELESYMDPMNEYNALNEAKQMIAVADENQNHHLEPEEVLKYSEFFTGSKLVDYARSVHEEF||,C|intron_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000403997|protein_coding||3/4|ENST00000403997.2:c.380+1746A>G|||||||||-1|cds_start_NF&cds_end_NF|SNV|HGNC|HGNC:24188||||3|||ENSP00000384207||H0Y3T6.65|UPI000059CF48||||||||||||||||||||||||||||||||||||||||||||||XLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEESSTSRNFLDLRAGVCRPRYPQAAPLSAQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDR||,C|intron_variant&NMD_transcript_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000465727|nonsense_mediated_decay||4/6|ENST00000465727.5:c.577+1746A>G|||||||||-1||SNV|HGNC|HGNC:24188||||2|||ENSP00000435962||G3V1E2.100|UPI000045610D||||||||||||||||||||||||||||||||||||||||||||||MVWPWVAMASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEESCAPLSTGSPGEPEGPLVPGGQPPCRPAADGGGVPVVPPPRAQPGNAQVHGEGDRPGPGPGR||,C|upstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000478938|retained_intron|||||||||||1205|-1||SNV|HGNC|HGNC:24188||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000494748|retained_intron|||||||||||147|-1||SNV|HGNC|HGNC:24188||||2|||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,4:0.5:6:1,0:0,2:2,2:0,2,2,2 -chr1 1223251 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|6%2C8;DP=26;ECNT=1;GERMQ=53;MBQ=31,33;MFRL=0,0;MMQ=60,60;MPOS=70;POPAF=7.3;TLOD=48.36;SRC=snv;GRP=s001;CSQ=G|synonymous_variant|LOW|SDF4|ENSG00000078808|Transcript|ENST00000263741|protein_coding|4/7||ENST00000263741.12:c.549T>C|ENSP00000263741.8:p.Asp183%3D|863|549|183|D|gaT/gaC|rs6603781&COSV55420653||-1||SNV|HGNC|HGNC:24188||||1||CCDS12.2|ENSP00000263741||A0A5F9UJX7.15|UPI00114AF40C||||||||0.9533|0.9985|0.9294|1|0.8608|0.956|0.9144|0.9834|0.9508|0.8568|0.9998|0.8519|0.8879|0.9053|0.9485|0.9188|0.9801|0.8333|0.9182|0.856|0.9998|0.8502|0.8829|0.8887|0.903|0.9535|1|EAS||0&1|0&1||||||||MASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEETQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDRKKEFEELIDSNHDGIVTAEELENVPTLPLQPIGTLNSHFVRLAAELGGGKATLTCAPLARRATWTP||,G|synonymous_variant|LOW|SDF4|ENSG00000078808|Transcript|ENST00000360001|protein_coding|4/7||ENST00000360001.12:c.549T>C|ENSP00000353094.7:p.Asp183%3D|833|549|183|D|gaT/gaC|rs6603781&COSV55420653||-1||SNV|HGNC|HGNC:24188|YES|NM_016176.6||1|P1|CCDS30553.2|ENSP00000353094||A0A5F9UP49.15|UPI0000205990||||||||0.9533|0.9985|0.9294|1|0.8608|0.956|0.9144|0.9834|0.9508|0.8568|0.9998|0.8519|0.8879|0.9053|0.9485|0.9188|0.9801|0.8333|0.9182|0.856|0.9998|0.8502|0.8829|0.8887|0.903|0.9535|1|EAS||0&1|0&1||||||||MASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEETQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDRKKEFEELIDSNHDGIVTAEELESYMDPMNEYNALNEAKQMIAVADENQNHHLEPEEVLKYSEFFTGSKLVDYARSVHEEF||,G|synonymous_variant|LOW|SDF4|ENSG00000078808|Transcript|ENST00000403997|protein_coding|3/5||ENST00000403997.2:c.375T>C|ENSP00000384207.2:p.Asp125%3D|373|375|125|D|gaT/gaC|rs6603781&COSV55420653||-1|cds_start_NF&cds_end_NF|SNV|HGNC|HGNC:24188||||3|||ENSP00000384207||H0Y3T6.65|UPI000059CF48||||||||0.9533|0.9985|0.9294|1|0.8608|0.956|0.9144|0.9834|0.9508|0.8568|0.9998|0.8519|0.8879|0.9053|0.9485|0.9188|0.9801|0.8333|0.9182|0.856|0.9998|0.8502|0.8829|0.8887|0.903|0.9535|1|EAS||0&1|0&1||||||||XLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEESSTSRNFLDLRAGVCRPRYPQAAPLSAQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDR||,G|downstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000459994|protein_coding_CDS_not_defined||||||||||rs6603781&COSV55420653|4021|-1||SNV|HGNC|HGNC:24188||||5||||||||||||||0.9533|0.9985|0.9294|1|0.8608|0.956|0.9144|0.9834|0.9508|0.8568|0.9998|0.8519|0.8879|0.9053|0.9485|0.9188|0.9801|0.8333|0.9182|0.856|0.9998|0.8502|0.8829|0.8887|0.903|0.9535|1|EAS||0&1|0&1||||||||||,G|synonymous_variant&NMD_transcript_variant|LOW|SDF4|ENSG00000078808|Transcript|ENST00000465727|nonsense_mediated_decay|4/7||ENST00000465727.5:c.570T>C|ENSP00000435962.1:p.Asp190%3D|863|570|190|D|gaT/gaC|rs6603781&COSV55420653||-1||SNV|HGNC|HGNC:24188||||2|||ENSP00000435962||G3V1E2.100|UPI000045610D||||||||0.9533|0.9985|0.9294|1|0.8608|0.956|0.9144|0.9834|0.9508|0.8568|0.9998|0.8519|0.8879|0.9053|0.9485|0.9188|0.9801|0.8333|0.9182|0.856|0.9998|0.8502|0.8829|0.8887|0.903|0.9535|1|EAS||0&1|0&1||||||||MVWPWVAMASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEESCAPLSTGSPGEPEGPLVPGGQPPCRPAADGGGVPVVPPPRAQPGNAQVHGEGDRPGPGPGR||,G|upstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000478938|retained_intron||||||||||rs6603781&COSV55420653|2958|-1||SNV|HGNC|HGNC:24188||||2||||||||||||||0.9533|0.9985|0.9294|1|0.8608|0.956|0.9144|0.9834|0.9508|0.8568|0.9998|0.8519|0.8879|0.9053|0.9485|0.9188|0.9801|0.8333|0.9182|0.856|0.9998|0.8502|0.8829|0.8887|0.903|0.9535|1|EAS||0&1|0&1||||||||||,G|upstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000494748|retained_intron||||||||||rs6603781&COSV55420653|1900|-1||SNV|HGNC|HGNC:24188||||2||||||||||||||0.9533|0.9985|0.9294|1|0.8608|0.956|0.9144|0.9834|0.9508|0.8568|0.9998|0.8519|0.8879|0.9053|0.9485|0.9188|0.9801|0.8333|0.9182|0.856|0.9998|0.8502|0.8829|0.8887|0.903|0.9535|1|EAS||0&1|0&1|||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,14:0.842:16:0,3:1,6:1,9:1,1,6,8 -chr1 1223932 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=14%2C9|1%2C1;DP=25;ECNT=1;GERMQ=78;MBQ=33,31;MFRL=0,0;MMQ=60,60;MPOS=48;POPAF=7.3;TLOD=4.67;SRC=snv;GRP=s001;CSQ=T|synonymous_variant|LOW|SDF4|ENSG00000078808|Transcript|ENST00000263741|protein_coding|3/7||ENST00000263741.12:c.342G>A|ENSP00000263741.8:p.Lys114%3D|656|342|114|K|aaG/aaA|||-1||SNV|HGNC|HGNC:24188||||1||CCDS12.2|ENSP00000263741||A0A5F9UJX7.15|UPI00114AF40C||||||||||||||||||||||||||||||||||||||||||||||MASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEETQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDRKKEFEELIDSNHDGIVTAEELENVPTLPLQPIGTLNSHFVRLAAELGGGKATLTCAPLARRATWTP||,T|synonymous_variant|LOW|SDF4|ENSG00000078808|Transcript|ENST00000360001|protein_coding|3/7||ENST00000360001.12:c.342G>A|ENSP00000353094.7:p.Lys114%3D|626|342|114|K|aaG/aaA|||-1||SNV|HGNC|HGNC:24188|YES|NM_016176.6||1|P1|CCDS30553.2|ENSP00000353094||A0A5F9UP49.15|UPI0000205990||||||||||||||||||||||||||||||||||||||||||||||MASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEETQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDRKKEFEELIDSNHDGIVTAEELESYMDPMNEYNALNEAKQMIAVADENQNHHLEPEEVLKYSEFFTGSKLVDYARSVHEEF||,T|synonymous_variant|LOW|SDF4|ENSG00000078808|Transcript|ENST00000403997|protein_coding|2/5||ENST00000403997.2:c.168G>A|ENSP00000384207.2:p.Lys56%3D|166|168|56|K|aaG/aaA|||-1|cds_start_NF&cds_end_NF|SNV|HGNC|HGNC:24188||||3|||ENSP00000384207||H0Y3T6.65|UPI000059CF48||||||||||||||||||||||||||||||||||||||||||||||XLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEESSTSRNFLDLRAGVCRPRYPQAAPLSAQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDR||,T|downstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000459994|protein_coding_CDS_not_defined|||||||||||3340|-1||SNV|HGNC|HGNC:24188||||5||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|synonymous_variant&NMD_transcript_variant|LOW|SDF4|ENSG00000078808|Transcript|ENST00000465727|nonsense_mediated_decay|3/7||ENST00000465727.5:c.363G>A|ENSP00000435962.1:p.Lys121%3D|656|363|121|K|aaG/aaA|||-1||SNV|HGNC|HGNC:24188||||2|||ENSP00000435962||G3V1E2.100|UPI000045610D||||||||||||||||||||||||||||||||||||||||||||||MVWPWVAMASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEESCAPLSTGSPGEPEGPLVPGGQPPCRPAADGGGVPVVPPPRAQPGNAQVHGEGDRPGPGPGR||,T|upstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000478938|retained_intron|||||||||||3639|-1||SNV|HGNC|HGNC:24188||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000494748|retained_intron|||||||||||2581|-1||SNV|HGNC|HGNC:24188||||2|||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:23,2:0.105:25:2,0:14,1:16,1:14,9,1,1 -chr1 1224137 . T C . position AS_FilterStatus=position;AS_SB_TABLE=0%2C0|2%2C1;DP=3;ECNT=1;GERMQ=49;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=0;POPAF=7.3;TLOD=10.5;SRC=snv;GRP=s001;CSQ=C|intron_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000263741|protein_coding||2/6|ENST00000263741.12:c.306-169A>G|||||||rs6702268||-1||SNV|HGNC|HGNC:24188||||1||CCDS12.2|ENSP00000263741||A0A5F9UJX7.15|UPI00114AF40C||||||||0.9740|1|0.9539|1|0.9185|0.9836||||||||||0.9528|0.987|0.8542|0.9465|0.8857|1|0.966|0.9209|0.9308|0.9368|0.9847|1|AFR&EAS&gnomADg_EAS|||||||||||MASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEETQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDRKKEFEELIDSNHDGIVTAEELENVPTLPLQPIGTLNSHFVRLAAELGGGKATLTCAPLARRATWTP||,C|intron_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000360001|protein_coding||2/6|ENST00000360001.12:c.306-169A>G|||||||rs6702268||-1||SNV|HGNC|HGNC:24188|YES|NM_016176.6||1|P1|CCDS30553.2|ENSP00000353094||A0A5F9UP49.15|UPI0000205990||||||||0.9740|1|0.9539|1|0.9185|0.9836||||||||||0.9528|0.987|0.8542|0.9465|0.8857|1|0.966|0.9209|0.9308|0.9368|0.9847|1|AFR&EAS&gnomADg_EAS|||||||||||MASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEETQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDRKKEFEELIDSNHDGIVTAEELESYMDPMNEYNALNEAKQMIAVADENQNHHLEPEEVLKYSEFFTGSKLVDYARSVHEEF||,C|intron_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000403997|protein_coding||1/4|ENST00000403997.2:c.130-169A>G|||||||rs6702268||-1|cds_start_NF&cds_end_NF|SNV|HGNC|HGNC:24188||||3|||ENSP00000384207||H0Y3T6.65|UPI000059CF48||||||||0.9740|1|0.9539|1|0.9185|0.9836||||||||||0.9528|0.987|0.8542|0.9465|0.8857|1|0.966|0.9209|0.9308|0.9368|0.9847|1|AFR&EAS&gnomADg_EAS|||||||||||XLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEESSTSRNFLDLRAGVCRPRYPQAAPLSAQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDR||,C|downstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000459994|protein_coding_CDS_not_defined||||||||||rs6702268|3135|-1||SNV|HGNC|HGNC:24188||||5||||||||||||||0.9740|1|0.9539|1|0.9185|0.9836||||||||||0.9528|0.987|0.8542|0.9465|0.8857|1|0.966|0.9209|0.9308|0.9368|0.9847|1|AFR&EAS&gnomADg_EAS|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000465727|nonsense_mediated_decay||2/6|ENST00000465727.5:c.327-169A>G|||||||rs6702268||-1||SNV|HGNC|HGNC:24188||||2|||ENSP00000435962||G3V1E2.100|UPI000045610D||||||||0.9740|1|0.9539|1|0.9185|0.9836||||||||||0.9528|0.987|0.8542|0.9465|0.8857|1|0.966|0.9209|0.9308|0.9368|0.9847|1|AFR&EAS&gnomADg_EAS|||||||||||MVWPWVAMASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEESCAPLSTGSPGEPEGPLVPGGQPPCRPAADGGGVPVVPPPRAQPGNAQVHGEGDRPGPGPGR||,C|upstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000478938|retained_intron||||||||||rs6702268|3844|-1||SNV|HGNC|HGNC:24188||||2||||||||||||||0.9740|1|0.9539|1|0.9185|0.9836||||||||||0.9528|0.987|0.8542|0.9465|0.8857|1|0.966|0.9209|0.9308|0.9368|0.9847|1|AFR&EAS&gnomADg_EAS|||||||||||||,C|upstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000494748|retained_intron||||||||||rs6702268|2786|-1||SNV|HGNC|HGNC:24188||||2||||||||||||||0.9740|1|0.9539|1|0.9185|0.9836||||||||||0.9528|0.987|0.8542|0.9465|0.8857|1|0.966|0.9209|0.9308|0.9368|0.9847|1|AFR&EAS&gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,0:0,2:0,2:0,0,2,1 -chr1 1226946 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=1;GERMQ=52;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=46;POPAF=7.3;TLOD=14.43;SRC=snv;GRP=s001;CSQ=G|intron_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000263741|protein_coding||2/6|ENST00000263741.12:c.305+1522T>C|||||||rs4970423||-1||SNV|HGNC|HGNC:24188||||1||CCDS12.2|ENSP00000263741||A0A5F9UJX7.15|UPI00114AF40C||||||||0.9970|1|0.9928|1|0.9901|1||||||||||0.995|0.9984|1|0.9912|0.9842|0.9998|0.998|1|0.9931|0.9904|1|1|AFR&EAS&SAS&gnomADg_AMI&gnomADg_MID&gnomADg_SAS|||||||||||MASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEETQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDRKKEFEELIDSNHDGIVTAEELENVPTLPLQPIGTLNSHFVRLAAELGGGKATLTCAPLARRATWTP||,G|intron_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000360001|protein_coding||2/6|ENST00000360001.12:c.305+1522T>C|||||||rs4970423||-1||SNV|HGNC|HGNC:24188|YES|NM_016176.6||1|P1|CCDS30553.2|ENSP00000353094||A0A5F9UP49.15|UPI0000205990||||||||0.9970|1|0.9928|1|0.9901|1||||||||||0.995|0.9984|1|0.9912|0.9842|0.9998|0.998|1|0.9931|0.9904|1|1|AFR&EAS&SAS&gnomADg_AMI&gnomADg_MID&gnomADg_SAS|||||||||||MASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEETQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDRKKEFEELIDSNHDGIVTAEELESYMDPMNEYNALNEAKQMIAVADENQNHHLEPEEVLKYSEFFTGSKLVDYARSVHEEF||,G|intron_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000403997|protein_coding||1/4|ENST00000403997.2:c.129+1522T>C|||||||rs4970423||-1|cds_start_NF&cds_end_NF|SNV|HGNC|HGNC:24188||||3|||ENSP00000384207||H0Y3T6.65|UPI000059CF48||||||||0.9970|1|0.9928|1|0.9901|1||||||||||0.995|0.9984|1|0.9912|0.9842|0.9998|0.998|1|0.9931|0.9904|1|1|AFR&EAS&SAS&gnomADg_AMI&gnomADg_MID&gnomADg_SAS|||||||||||XLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEESSTSRNFLDLRAGVCRPRYPQAAPLSAQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDR||,G|downstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000459994|protein_coding_CDS_not_defined||||||||||rs4970423|326|-1||SNV|HGNC|HGNC:24188||||5||||||||||||||0.9970|1|0.9928|1|0.9901|1||||||||||0.995|0.9984|1|0.9912|0.9842|0.9998|0.998|1|0.9931|0.9904|1|1|AFR&EAS&SAS&gnomADg_AMI&gnomADg_MID&gnomADg_SAS|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000465727|nonsense_mediated_decay||2/6|ENST00000465727.5:c.326+1522T>C|||||||rs4970423||-1||SNV|HGNC|HGNC:24188||||2|||ENSP00000435962||G3V1E2.100|UPI000045610D||||||||0.9970|1|0.9928|1|0.9901|1||||||||||0.995|0.9984|1|0.9912|0.9842|0.9998|0.998|1|0.9931|0.9904|1|1|AFR&EAS&SAS&gnomADg_AMI&gnomADg_MID&gnomADg_SAS|||||||||||MVWPWVAMASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEESCAPLSTGSPGEPEGPLVPGGQPPCRPAADGGGVPVVPPPRAQPGNAQVHGEGDRPGPGPGR|| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 1232278 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=6%2C6|1%2C1;DP=14;ECNT=1;GERMQ=53;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=6;POPAF=7.3;TLOD=5.51;SRC=snv;GRP=s001;CSQ=T|upstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000263741|protein_coding||||||||||rs989834881|247|-1||SNV|HGNC|HGNC:24188||||1||CCDS12.2|ENSP00000263741||A0A5F9UJX7.15|UPI00114AF40C|||||||||||||||||||||||2.068e-05|7.533e-05|0|0|0|0|0|0|0|0|0|7.533e-05|gnomADg_AFR|||||||||||MASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEETQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDRKKEFEELIDSNHDGIVTAEELENVPTLPLQPIGTLNSHFVRLAAELGGGKATLTCAPLARRATWTP||,T|upstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000360001|protein_coding||||||||||rs989834881|277|-1||SNV|HGNC|HGNC:24188|YES|NM_016176.6||1|P1|CCDS30553.2|ENSP00000353094||A0A5F9UP49.15|UPI0000205990|||||||||||||||||||||||2.068e-05|7.533e-05|0|0|0|0|0|0|0|0|0|7.533e-05|gnomADg_AFR|||||||||||MASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEETQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDRKKEFEELIDSNHDGIVTAEELESYMDPMNEYNALNEAKQMIAVADENQNHHLEPEEVLKYSEFFTGSKLVDYARSVHEEF||,T|5_prime_UTR_variant|MODIFIER|B3GALT6|ENSG00000176022|Transcript|ENST00000379198|protein_coding|1/1||ENST00000379198.5:c.-1C>T||42|||||rs989834881||1||SNV|HGNC|HGNC:17978|YES|NM_080605.4|||P1|CCDS13.1|ENSP00000368496|Q96L58.168||UPI0000141885||1|||||||||||||||||||||2.068e-05|7.533e-05|0|0|0|0|0|0|0|0|0|7.533e-05|gnomADg_AFR|||||||||||MKLLRRAWRRRAALGLGTLALCGAALLYLARCAAEPGDPRAMSGRSPPPPAPARAAAFLAVLVASAPRAAERRSVIRSTWLARRGAPGDVWARFAVGTAGLGAEERRALEREQARHGDLLLLPALRDAYENLTAKVLAMLAWLDEHVAFEFVLKADDDSFARLDALLAELRAREPARRRRLYWGFFSGRGRVKPGGRWREAAWQLCDYYLPYALGGGYVLSADLVHYLRLSRDYLRAWHSEDVSLGAWLAPVDVQREHDPRFDTEYRSRGCSNQYLVTHKQSLEDMLEKHATLAREGRLCKREVQLRLSYVYDWSAPPSQCCQRREGIP||,T|upstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000403997|protein_coding||||||||||rs989834881|3682|-1|cds_start_NF&cds_end_NF|SNV|HGNC|HGNC:24188||||3|||ENSP00000384207||H0Y3T6.65|UPI000059CF48|||||||||||||||||||||||2.068e-05|7.533e-05|0|0|0|0|0|0|0|0|0|7.533e-05|gnomADg_AFR|||||||||||XLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEESSTSRNFLDLRAGVCRPRYPQAAPLSAQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDR||,T|upstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000459994|protein_coding_CDS_not_defined||||||||||rs989834881|310|-1||SNV|HGNC|HGNC:24188||||5|||||||||||||||||||||||||||||2.068e-05|7.533e-05|0|0|0|0|0|0|0|0|0|7.533e-05|gnomADg_AFR|||||||||||||,T|upstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000465727|nonsense_mediated_decay||||||||||rs989834881|247|-1||SNV|HGNC|HGNC:24188||||2|||ENSP00000435962||G3V1E2.100|UPI000045610D|||||||||||||||||||||||2.068e-05|7.533e-05|0|0|0|0|0|0|0|0|0|7.533e-05|gnomADg_AFR|||||||||||MVWPWVAMASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEESCAPLSTGSPGEPEGPLVPGGQPPCRPAADGGGVPVVPPPRAQPGNAQVHGEGDRPGPGPGR||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000159|promoter||||||||||rs989834881||||SNV|||||||||||||||||||||||||||||||||||2.068e-05|7.533e-05|0|0|0|0|0|0|0|0|0|7.533e-05|gnomADg_AFR|||||||||||||,T|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00110387954|||||||||||rs989834881||1||SNV|||||||||||||||||||||||||||||||||||2.068e-05|7.533e-05|0|0|0|0|0|0|0|0|0|7.533e-05|gnomADg_AFR|||||ENSPFM0073|12|N|-0.006|E2F1::NHLH1|||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:12,2:0.222:14:0,0:6,1:6,1:6,6,1,1 -chr1 1232533 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=24%2C22|1%2C1;DP=50;ECNT=1;GERMQ=93;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=16;POPAF=7.3;TLOD=4.73;SRC=snv;GRP=s001;CSQ=A|upstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000263741|protein_coding||||||||||rs1372150716|502|-1||SNV|HGNC|HGNC:24188||||1||CCDS12.2|ENSP00000263741||A0A5F9UJX7.15|UPI00114AF40C|||||||||||||||||||||||6.755e-06|2.443e-05|0|0|0|0|0|0|0|0|0|2.443e-05|gnomADg_AFR|||1||||||||MASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEETQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDRKKEFEELIDSNHDGIVTAEELENVPTLPLQPIGTLNSHFVRLAAELGGGKATLTCAPLARRATWTP||,A|upstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000360001|protein_coding||||||||||rs1372150716|532|-1||SNV|HGNC|HGNC:24188|YES|NM_016176.6||1|P1|CCDS30553.2|ENSP00000353094||A0A5F9UP49.15|UPI0000205990|||||||||||||||||||||||6.755e-06|2.443e-05|0|0|0|0|0|0|0|0|0|2.443e-05|gnomADg_AFR|||1||||||||MASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEETQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDRKKEFEELIDSNHDGIVTAEELESYMDPMNEYNALNEAKQMIAVADENQNHHLEPEEVLKYSEFFTGSKLVDYARSVHEEF||,A|synonymous_variant|LOW|B3GALT6|ENSG00000176022|Transcript|ENST00000379198|protein_coding|1/1||ENST00000379198.5:c.255G>A|ENSP00000368496.2:p.Gly85%3D|297|255|85|G|ggG/ggA|rs1372150716||1||SNV|HGNC|HGNC:17978|YES|NM_080605.4|||P1|CCDS13.1|ENSP00000368496|Q96L58.168||UPI0000141885||1|||||||||||||||||||||6.755e-06|2.443e-05|0|0|0|0|0|0|0|0|0|2.443e-05|gnomADg_AFR|||1||||||||MKLLRRAWRRRAALGLGTLALCGAALLYLARCAAEPGDPRAMSGRSPPPPAPARAAAFLAVLVASAPRAAERRSVIRSTWLARRGAPGDVWARFAVGTAGLGAEERRALEREQARHGDLLLLPALRDAYENLTAKVLAMLAWLDEHVAFEFVLKADDDSFARLDALLAELRAREPARRRRLYWGFFSGRGRVKPGGRWREAAWQLCDYYLPYALGGGYVLSADLVHYLRLSRDYLRAWHSEDVSLGAWLAPVDVQREHDPRFDTEYRSRGCSNQYLVTHKQSLEDMLEKHATLAREGRLCKREVQLRLSYVYDWSAPPSQCCQRREGIP||,A|upstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000403997|protein_coding||||||||||rs1372150716|3937|-1|cds_start_NF&cds_end_NF|SNV|HGNC|HGNC:24188||||3|||ENSP00000384207||H0Y3T6.65|UPI000059CF48|||||||||||||||||||||||6.755e-06|2.443e-05|0|0|0|0|0|0|0|0|0|2.443e-05|gnomADg_AFR|||1||||||||XLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEESSTSRNFLDLRAGVCRPRYPQAAPLSAQEVLENLKDRWYQADSPPADLLLTEEEFLSFLHPEHSRGMLRFMVKEIVRDLDQDGDKQLSVPEFISLPVGTVENQQGQDIDDNWVKDR||,A|upstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000459994|protein_coding_CDS_not_defined||||||||||rs1372150716|565|-1||SNV|HGNC|HGNC:24188||||5|||||||||||||||||||||||||||||6.755e-06|2.443e-05|0|0|0|0|0|0|0|0|0|2.443e-05|gnomADg_AFR|||1||||||||||,A|upstream_gene_variant|MODIFIER|SDF4|ENSG00000078808|Transcript|ENST00000465727|nonsense_mediated_decay||||||||||rs1372150716|502|-1||SNV|HGNC|HGNC:24188||||2|||ENSP00000435962||G3V1E2.100|UPI000045610D|||||||||||||||||||||||6.755e-06|2.443e-05|0|0|0|0|0|0|0|0|0|2.443e-05|gnomADg_AFR|||1||||||||MVWPWVAMASRWGPLIGLAPCCLWLLGAVLLMDASARPANHSSTRERVANREENEILPPDHLNGVKLEMDGHLNRGFHQEVFLGKDLGGFDEDAEPRRSRRKLMVIFSKVDVNTDRKISAKEMQRWIMEKTAEHFQEAMEESKTHFRAVDPDGDGHVSWDEYKVKFLASKGHSEKEVADAIRLNEELKVDEESCAPLSTGSPGEPEGPLVPGGQPPCRPAADGGGVPVVPPPRAQPGNAQVHGEGDRPGPGPGR||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000159|promoter||||||||||rs1372150716||||SNV|||||||||||||||||||||||||||||||||||6.755e-06|2.443e-05|0|0|0|0|0|0|0|0|0|2.443e-05|gnomADg_AFR|||1|||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:46,2:0.074:48:0,0:23,1:24,1:24,22,1,1 -chr2 130229486 . G A . clustered_events;haplotype;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|4%2C4;DP=8;ECNT=3;GERMQ=59;MBQ=0,32;MFRL=0,0;MMQ=60,26;MPOS=5;POPAF=7.3;TLOD=35.3;SRC=snv;GRP=s001;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA|||||||||||1869|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.108G>A||108|||||||1||SNV|HGNC|HGNC:52285|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000123074|promoter||||||||||||||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00097459372|||||||||||||1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||ENSPFM0120|1|N|0.010|ERF::MAX&FLI1::MAX||||,A|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00189266042|||||||||||||1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||ENSPFM0260|3|N|-0.019|GCM2::MAX||||,A|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00000036076|||||||||||||1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||ENSPFM0216|10|N|-0.018|GCM1::ELF1||||,A|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00189228097|||||||||||||-1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||ENSPFM0365|14|Y|-0.033|MAX&TFAP4::MAX&CLOCK::BHLHA15|||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,8:0.833:8:0,0:0,4:0,4:0|1:130229486_G_A:130229486:0,0,4,4 -chr2 130229492 . G A . clustered_events;haplotype;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|4%2C7;DP=12;ECNT=3;GERMQ=67;MBQ=0,32;MFRL=0,0;MMQ=60,21;MPOS=9;POPAF=7.3;TLOD=42.42;SRC=snv;GRP=s001;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA|||||||||||1863|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.114G>A||114|||||||1||SNV|HGNC|HGNC:52285|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000123074|promoter||||||||||||||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00097459372|||||||||||||1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||ENSPFM0120|7|Y|0.068|ERF::MAX&FLI1::MAX||||,A|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00189266042|||||||||||||1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||ENSPFM0260|9|N|0.009|GCM2::MAX||||,A|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00189228097|||||||||||||-1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||ENSPFM0365|8|N|0.004|MAX&TFAP4::MAX&CLOCK::BHLHA15|||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,11:0.893:11:0,3:0,4:0,7:0|1:130229486_G_A:130229486:0,0,4,7 -chr2 130229520 . G A . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|6%2C11;DP=17;ECNT=3;GERMQ=85;MBQ=0,34;MFRL=0,0;MMQ=60,21;MPOS=28;POPAF=7.3;TLOD=45.76;SRC=snv;GRP=s001;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA||||||||||rs878912606|1835|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.142G>A||142|||||rs878912606||1||SNV|HGNC|HGNC:52285|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000123074|promoter||||||||||rs878912606||||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00523539902|||||||||||rs878912606||1||SNV||||||||||||||||||||||||||||||||||||||||||||||||||||ENSPFM0506|12|N|-0.027|TEAD4::SPIB&TEAD4::ELF1&TEAD4::ELK1|||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,17:0.923:17:0,4:0,6:0,11:0,0,6,11 -chr2 130229579 . T C . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|10%2C13;DP=25;ECNT=3;GERMQ=93;MBQ=0,34;MFRL=0,0;MMQ=60,20;MPOS=96;POPAF=7.3;TLOD=58.28;SRC=snv;GRP=s001;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA||||||||||rs878955194|1776|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.201T>C||201|||||rs878955194||1||SNV|HGNC|HGNC:52285|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000123074|promoter||||||||||rs878955194||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,23:0.939:23:0,4:0,10:0,14:0,0,10,13 -chr2 130229607 . G C . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|2%2C7;DP=18;ECNT=3;GERMQ=62;MBQ=0,35;MFRL=0,0;MMQ=60,20;MPOS=115;POPAF=7.3;TLOD=21.45;SRC=snv;GRP=s001;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA||||||||||rs13407565|1748|1||SNV|||YES||||||||||||||||||||||||||||||||0.03621|0.1146|0|0.02514|0.01894|0.002769|9.901e-05|0.04082|0.001789|0.03775|0.001605|0.1146|gnomADg_AFR|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.229G>C||229|||||rs13407565||1||SNV|HGNC|HGNC:52285|YES||||||||||||||||||||||||||||||||0.03621|0.1146|0|0.02514|0.01894|0.002769|9.901e-05|0.04082|0.001789|0.03775|0.001605|0.1146|gnomADg_AFR|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000123074|promoter||||||||||rs13407565||||SNV|||||||||||||||||||||||||||||||||||0.03621|0.1146|0|0.02514|0.01894|0.002769|9.901e-05|0.04082|0.001789|0.03775|0.001605|0.1146|gnomADg_AFR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,9:0.906:9:0,3:0,2:0,7:0,0,2,7 -chr2 130229647 . A T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C6;DP=11;ECNT=3;GERMQ=65;MBQ=0,33;MFRL=0,0;MMQ=60,52;MPOS=10;POPAF=7.3;TLOD=33.32;SRC=snv;GRP=s001;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA||||||||||rs1298905591|1708|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.269A>T||269|||||rs1298905591||1||SNV|HGNC|HGNC:52285|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000123074|promoter||||||||||rs1298905591||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,10:0.88:10:0,2:0,4:0,6:0,0,4,6 -chr2 130229689 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|6%2C8;DP=14;ECNT=8;GERMQ=76;MBQ=0,33;MFRL=0,0;MMQ=60,50;MPOS=50;POPAF=7.3;TLOD=50.62;SRC=snv;GRP=s001;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA||||||||||rs1238831323|1666|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.311A>G||311|||||rs1238831323||1||SNV|HGNC|HGNC:52285|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000123074|promoter||||||||||rs1238831323||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,14:0.9:14:0,2:0,6:0,8:0,0,6,8 -chr2 130229709 . T G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|6%2C8;DP=14;ECNT=8;GERMQ=76;MBQ=0,33;MFRL=0,0;MMQ=60,50;MPOS=70;POPAF=7.3;TLOD=49.72;SRC=snv;GRP=s001;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA||||||||||rs113034866|1646|1||SNV|||YES||||||||||||||||||||||||||||||||0|0|0|0|0|0|0|0|0|0|0|0|gnomADg_AFR&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.331T>G||331|||||rs113034866||1||SNV|HGNC|HGNC:52285|YES||||||||||||||||||||||||||||||||0|0|0|0|0|0|0|0|0|0|0|0|gnomADg_AFR&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000123074|promoter||||||||||rs113034866||||SNV|||||||||||||||||||||||||||||||||||0|0|0|0|0|0|0|0|0|0|0|0|gnomADg_AFR&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,14:0.9:14:0,2:0,6:0,8:0,0,6,8 -chr2 130229735 . T G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|6%2C8;DP=14;ECNT=8;GERMQ=76;MBQ=0,33;MFRL=0,0;MMQ=60,50;MPOS=96;POPAF=7.3;TLOD=38.77;SRC=snv;GRP=s001;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA||||||||||rs962351221|1620|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.357T>G||357|||||rs962351221||1||SNV|HGNC|HGNC:52285|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000123074|promoter||||||||||rs962351221||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,14:0.9:14:0,2:0,6:0,8:0,0,6,8 -chr2 130229747 . A G . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|7%2C10;DP=17;ECNT=8;GERMQ=85;MBQ=0,32;MFRL=0,0;MMQ=60,49;MPOS=105;POPAF=7.3;TLOD=75.46;SRC=snv;GRP=s001;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA||||||||||rs111986150|1608|1||SNV|||YES||||||||||||||||||||||||||||||||0|0|0|0|0|0|0|0|0|0|0|0|gnomADg_AFR&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.369A>G||369|||||rs111986150||1||SNV|HGNC|HGNC:52285|YES||||||||||||||||||||||||||||||||0|0|0|0|0|0|0|0|0|0|0|0|gnomADg_AFR&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000123074|promoter||||||||||rs111986150||||SNV|||||||||||||||||||||||||||||||||||0|0|0|0|0|0|0|0|0|0|0|0|gnomADg_AFR&gnomADg_AMI&gnomADg_AMR&gnomADg_ASJ&gnomADg_EAS&gnomADg_FIN&gnomADg_MID&gnomADg_NFE&gnomADg_OTH&gnomADg_SAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,17:0.917:17:0,3:0,7:0,10:0|1:130229747_A_G:130229747:0,0,7,10 -chr2 130229753 . G A . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|8%2C11;DP=19;ECNT=8;GERMQ=91;MBQ=0,33;MFRL=0,0;MMQ=60,49;MPOS=111;POPAF=7.3;TLOD=82.34;SRC=snv;GRP=s001;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA||||||||||rs1169948624|1602|1||SNV|||YES||||||||||||||||||||||||||||||||6.57e-06|0|0|6.54e-05|0|0|0|0|0|0|0|6.54e-05|gnomADg_AMR|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.375G>A||375|||||rs1169948624||1||SNV|HGNC|HGNC:52285|YES||||||||||||||||||||||||||||||||6.57e-06|0|0|6.54e-05|0|0|0|0|0|0|0|6.54e-05|gnomADg_AMR|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000123074|promoter||||||||||rs1169948624||||SNV|||||||||||||||||||||||||||||||||||6.57e-06|0|0|6.54e-05|0|0|0|0|0|0|0|6.54e-05|gnomADg_AMR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,19:0.929:19:0,3:0,6:0,12:0|1:130229747_A_G:130229747:0,0,8,11 -chr2 130229756 . G A . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|8%2C11;DP=19;ECNT=8;GERMQ=91;MBQ=0,33;MFRL=0,0;MMQ=60,49;MPOS=111;POPAF=7.3;TLOD=82.34;SRC=snv;GRP=s001;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA||||||||||rs1476551202|1599|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.378G>A||378|||||rs1476551202||1||SNV|HGNC|HGNC:52285|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000123074|promoter||||||||||rs1476551202||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,19:0.929:19:0,4:0,8:0,12:0|1:130229747_A_G:130229747:0,0,8,11 -chr2 130229803 . G C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|7%2C9;DP=18;ECNT=8;GERMQ=82;MBQ=0,34;MFRL=0,0;MMQ=60,41;MPOS=27;POPAF=7.3;TLOD=57.79;SRC=snv;GRP=s001;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA||||||||||rs1259265109|1552|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.425G>C||425|||||rs1259265109||1||SNV|HGNC|HGNC:52285|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000123074|promoter||||||||||rs1259265109||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,16:0.935:16:0,6:0,7:0,13:0,0,7,9 -chr2 130229817 . C G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|11%2C11;DP=22;ECNT=8;GERMQ=93;MBQ=0,32;MFRL=0,0;MMQ=60,40;MPOS=30;POPAF=7.3;TLOD=78.38;SRC=snv;GRP=s001;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA||||||||||rs943569739|1538|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.439C>G||439|||||rs943569739||1||SNV|HGNC|HGNC:52285|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000123074|promoter||||||||||rs943569739||||SNV|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,22:0.947:22:0,6:0,11:0,17:0,0,11,11 -chr2 130229920 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|12%2C11;DP=27;ECNT=1;GERMQ=93;MBQ=0,32;MFRL=0,0;MMQ=60,40;MPOS=99;POPAF=7.3;TLOD=79.42;SRC=snv;GRP=s001;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA||||||||||rs962631108|1435|1||SNV|||YES||||||||||||||||||||||||||||||||0.0001051|0|0|0.0009817|0|0|0|0|1.47e-05|0|0|0.0009817|gnomADg_AMR|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.542A>G||542|||||rs962631108||1||SNV|HGNC|HGNC:52285|YES||||||||||||||||||||||||||||||||0.0001051|0|0|0.0009817|0|0|0|0|1.47e-05|0|0|0.0009817|gnomADg_AMR|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000123074|promoter||||||||||rs962631108||||SNV|||||||||||||||||||||||||||||||||||0.0001051|0|0|0.0009817|0|0|0|0|1.47e-05|0|0|0.0009817|gnomADg_AMR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,23:0.945:23:0,3:0,12:0,15:0,0,12,11 -chr2 130230633 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C5;DP=8;ECNT=5;GERMQ=59;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=17;POPAF=7.3;TLOD=26.65;SRC=snv;GRP=s001;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA||||||||||rs1263612383|722|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.1255T>C||1255|||||rs1263612383||1||SNV|HGNC|HGNC:52285|YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.874:8:0,2:0,3:0,6:0,0,3,5 -chr2 130230668 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|7%2C8;DP=15;ECNT=5;GERMQ=79;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=40;POPAF=7.3;TLOD=53.27;SRC=snv;GRP=s001;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA||||||||||rs1191311078|687|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.1290T>C||1290|||||rs1191311078||1||SNV|HGNC|HGNC:52285|YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,15:0.923:15:0,4:0,7:0,11:0,0,7,8 -chr2 130230679 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|7%2C8;DP=15;ECNT=5;GERMQ=79;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=51;POPAF=7.3;TLOD=46.42;SRC=snv;GRP=s001;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA||||||||||rs1182874889|676|1||SNV|||YES||||||||||||||||||||||||||||||||6.569e-06|0|0|0|0|0|0|0|1.47e-05|0|0|1.47e-05|gnomADg_NFE|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.1301G>A||1301|||||rs1182874889||1||SNV|HGNC|HGNC:52285|YES||||||||||||||||||||||||||||||||6.569e-06|0|0|0|0|0|0|0|1.47e-05|0|0|1.47e-05|gnomADg_NFE||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,15:0.922:15:0,2:0,7:0,11:0,0,7,8 -chr2 130230727 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|7%2C8;DP=15;ECNT=5;GERMQ=79;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=99;POPAF=7.3;TLOD=52.87;SRC=snv;GRP=s001;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA||||||||||rs878861272|628|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.1349A>G||1349|||||rs878861272||1||SNV|HGNC|HGNC:52285|YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,15:0.923:15:0,4:0,7:0,11:0,0,7,8 -chr2 130230790 . A G . clustered_events;map_qual;strand_bias;weak_evidence AS_FilterStatus=weak_evidence,map_qual,strand_bias;AS_SB_TABLE=0%2C0|2%2C1;DP=7;ECNT=5;GERMQ=44;MBQ=0,31;MFRL=0,0;MMQ=60,29;MPOS=142;POPAF=7.3;TLOD=8.82;SRC=snv;GRP=s001;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA||||||||||rs1302849085|565|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.1412A>G||1412|||||rs1302849085||1||SNV|HGNC|HGNC:52285|YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.825:3:0,0:0,2:0,3:0,0,2,1 -chr2 130230924 . A G . map_qual;weak_evidence AS_FilterStatus=weak_evidence,map_qual;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=2;GERMQ=41;MBQ=0,33;MFRL=0,0;MMQ=60,21;MPOS=32;POPAF=7.3;TLOD=4.85;SRC=snv;GRP=s001;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA||||||||||rs879197494|431|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.1546A>G||1546|||||rs879197494||1||SNV|HGNC|HGNC:52285|YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr2 130231008 . C T . map_qual;weak_evidence AS_FilterStatus=weak_evidence,map_qual;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=2;GERMQ=41;MBQ=0,33;MFRL=0,0;MMQ=60,21;MPOS=116;POPAF=7.3;TLOD=4.85;SRC=snv;GRP=s001;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA||||||||||rs1486947001|347|1||SNV|||YES||||||||||||||||||||||||||||||||4.598e-05|4.822e-05|0|6.541e-05|0|0.0003849|0|0|1.47e-05|0.000478|0|0.000478|gnomADg_OTH|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.1630C>T||1630|||||rs1486947001||1||SNV|HGNC|HGNC:52285|YES||||||||||||||||||||||||||||||||4.598e-05|4.822e-05|0|6.541e-05|0|0.0003849|0|0|1.47e-05|0.000478|0|0.000478|gnomADg_OTH||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr2 130231176 . C G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C5;DP=10;ECNT=6;GERMQ=59;MBQ=0,32;MFRL=0,0;MMQ=60,33;MPOS=6;POPAF=7.3;TLOD=26.98;SRC=snv;GRP=s001;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA|||||||||||179|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.1798C>G||1798|||||||1||SNV|HGNC|HGNC:52285|YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.864:8:0,2:0,3:0,5:0,0,3,5 -chr2 130231189 . T G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|5%2C7;DP=13;ECNT=6;GERMQ=70;MBQ=0,32;MFRL=0,0;MMQ=60,37;MPOS=15;POPAF=7.3;TLOD=41.57;SRC=snv;GRP=s001;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA|||||||||||166|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.1811T>G||1811|||||||1||SNV|HGNC|HGNC:52285|YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,12:0.893:12:0,2:0,5:0,7:0,0,5,7 -chr2 130231202 . C A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|6%2C10;DP=16;ECNT=6;GERMQ=82;MBQ=0,32;MFRL=0,0;MMQ=60,37;MPOS=26;POPAF=7.3;TLOD=56.65;SRC=snv;GRP=s001;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA|||||||||||153|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.1824C>A||1824|||||||1||SNV|HGNC|HGNC:52285|YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,16:0.917:16:0,4:0,6:0,10:0,0,6,10 -chr2 130231206 . C T . clustered_events;map_qual;strand_bias;weak_evidence AS_FilterStatus=weak_evidence,map_qual,strand_bias;AS_SB_TABLE=5%2C8|1%2C2;DP=16;ECNT=6;GERMQ=34;MBQ=33,31;MFRL=0,0;MMQ=40,29;MPOS=31;POPAF=7.3;TLOD=7.54;SRC=snv;GRP=s001;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA||||||||||rs1691058392|149|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.1828C>T||1828|||||rs1691058392||1||SNV|HGNC|HGNC:52285|YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:13,3:0.25:16:3,1:4,1:8,2:5,8,1,2 -chr2 130231240 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|6%2C10;DP=16;ECNT=6;GERMQ=82;MBQ=0,33;MFRL=0,0;MMQ=60,37;MPOS=64;POPAF=7.3;TLOD=54.65;SRC=snv;GRP=s001;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA||||||||||rs1817095|115|1||SNV|||YES||||||||||||||||||||||||||||||||1.315e-05|2.415e-05|0|6.551e-05|0|0|0|0|0|0|0|6.551e-05|gnomADg_AMR|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.1862A>G||1862|||||rs1817095||1||SNV|HGNC|HGNC:52285|YES||||||||||||||||||||||||||||||||1.315e-05|2.415e-05|0|6.551e-05|0|0|0|0|0|0|0|6.551e-05|gnomADg_AMR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,16:0.917:16:0,4:0,6:0,10:0,0,6,10 -chr2 130231320 . G A . clustered_events;strand_bias;weak_evidence AS_FilterStatus=weak_evidence,strand_bias;AS_SB_TABLE=0%2C0|1%2C3;DP=7;ECNT=6;GERMQ=47;MBQ=0,32;MFRL=0,0;MMQ=60,40;MPOS=125;POPAF=7.3;TLOD=11.62;SRC=snv;GRP=s001;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000293150|Transcript|ENST00000450578|lncRNA||||||||||rs879193673|35|1||SNV|||YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|NOC2LP1|ENSG00000213225|Transcript|ENST00000452600|transcribed_processed_pseudogene|1/1||ENST00000452600.1:n.1942G>A||1942|||||rs879193673||1||SNV|HGNC|HGNC:52285|YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.819:4:0,2:0,1:0,3:0,0,1,3 -chr2 131442793 . T C . clustered_events;haplotype;strand_bias AS_FilterStatus=strand_bias;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=6;GERMQ=44;MBQ=0,34;MFRL=0,0;MMQ=60,49;MPOS=78;POPAF=7.3;TLOD=13.02;SRC=snv;GRP=s001;CSQ=C|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.1795A>G||1795|||||||-1||SNV|HGNC|HGNC:52286|YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.75:3:0,1:0,1:0,2:0|1:131442793_T_C:131442793:0,0,1,2 -chr2 131442797 . C G . clustered_events;haplotype;strand_bias AS_FilterStatus=strand_bias;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=6;GERMQ=44;MBQ=0,34;MFRL=0,0;MMQ=60,49;MPOS=74;POPAF=7.3;TLOD=13.02;SRC=snv;GRP=s001;CSQ=G|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.1791G>C||1791|||||||-1||SNV|HGNC|HGNC:52286|YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.75:3:0,1:0,1:0,2:0|1:131442793_T_C:131442793:0,0,1,2 -chr2 131442810 . C T . clustered_events;haplotype;strand_bias AS_FilterStatus=strand_bias;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=6;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,49;MPOS=61;POPAF=7.3;TLOD=13.02;SRC=snv;GRP=s001;CSQ=T|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.1778G>A||1778|||||rs537639562||-1||SNV|HGNC|HGNC:52286|YES|||||||||||||||||0.0004|0|0|0|0.002|0|0.0009507|0|0.000117|0.0006011|0|0.001927|0.001595|0.0009924|3.298e-05|0.001275|9.653e-05|0|0.0001962|0.001729|0|0.001224|0|0.002454|0.0004785|0|0.002454|gnomADg_NFE||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.75:3:0,1:0,1:0,2:0|1:131442793_T_C:131442793:0,0,1,2 -chr2 131442829 . C T . clustered_events;haplotype;strand_bias AS_FilterStatus=strand_bias;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=6;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,49;MPOS=42;POPAF=7.3;TLOD=13.02;SRC=snv;GRP=s001;CSQ=T|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.1759G>A||1759|||||||-1||SNV|HGNC|HGNC:52286|YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.75:3:0,1:0,1:0,2:0|1:131442793_T_C:131442793:0,0,1,2 -chr2 131442842 . T C . clustered_events;haplotype;strand_bias AS_FilterStatus=strand_bias;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=6;GERMQ=44;MBQ=0,34;MFRL=0,0;MMQ=60,49;MPOS=29;POPAF=7.3;TLOD=13.02;SRC=snv;GRP=s001;CSQ=C|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.1746A>G||1746|||||rs1462792595||-1||SNV|HGNC|HGNC:52286|YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.75:3:0,1:0,1:0,2:0|1:131442793_T_C:131442793:0,0,1,2 -chr2 131442846 . A G . clustered_events;haplotype;strand_bias AS_FilterStatus=strand_bias;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=6;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,49;MPOS=25;POPAF=7.3;TLOD=13.02;SRC=snv;GRP=s001;CSQ=G|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.1742T>C||1742|||||rs1195529134||-1||SNV|HGNC|HGNC:52286|YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.75:3:0,1:0,1:0,2:0|1:131442793_T_C:131442793:0,0,1,2 -chr2 131443009 . A G . clustered_events;map_qual;strand_bias;weak_evidence AS_FilterStatus=weak_evidence,map_qual,strand_bias;AS_SB_TABLE=0%2C0|3%2C1;DP=5;ECNT=9;GERMQ=47;MBQ=0,32;MFRL=0,0;MMQ=60,28;MPOS=125;POPAF=7.3;TLOD=12.41;SRC=snv;GRP=s001;CSQ=G|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.1579T>C||1579|||||rs528066176||-1||SNV|HGNC|HGNC:52286|YES|||||||||||||||||0.0010|0.0038|0|0|0|0|0.0002785|0.003818|5.785e-05|0|0|0|8.798e-06|0.000163|0.0001307|0.001058|0.003813|0|0.0001309|0|0|0|0|0|0.0004776|0|0.003818|gnomADe_AFR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.833:4:0,1:0,3:0,4:0,0,3,1 -chr2 131443024 . A G . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|3%2C3;DP=9;ECNT=9;GERMQ=53;MBQ=0,34;MFRL=0,0;MMQ=60,28;MPOS=110;POPAF=7.3;TLOD=19.15;SRC=snv;GRP=s001;CSQ=G|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.1564T>C||1564|||||rs775264264||-1||SNV|HGNC|HGNC:52286|YES|||||||||||||||||||||||1.194e-05|0|0|0|0|0|0|0|9.801e-05|6.571e-06|0|0|0|0|0|0|0|1.47e-05|0|0|9.801e-05|gnomADe_SAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.864:6:0,2:0,3:0,5:0,0,3,3 -chr2 131443048 . G A . clustered_events;strand_bias;weak_evidence AS_FilterStatus=weak_evidence,strand_bias;AS_SB_TABLE=2%2C5|1%2C1;DP=9;ECNT=9;GERMQ=27;MBQ=33,33;MFRL=0,0;MMQ=29,38;MPOS=106;POPAF=7.3;TLOD=5.33;SRC=snv;GRP=s001;CSQ=A|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.1540C>T||1540|||||rs1281084689||-1||SNV|HGNC|HGNC:52286|YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,2:0.25:9:3,0:2,1:5,1:2,5,1,1 -chr2 131443052 . G T . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|3%2C6;DP=9;ECNT=9;GERMQ=62;MBQ=0,33;MFRL=0,0;MMQ=60,29;MPOS=105;POPAF=7.3;TLOD=32.74;SRC=snv;GRP=s001;CSQ=T|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.1536C>A||1536|||||rs1010317821||-1||SNV|HGNC|HGNC:52286|YES|||||||||||||||||||||||3.982e-06|0|0|0|0|0|8.808e-06|0|0||||||||||||8.808e-06|gnomADe_NFE||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,9:0.875:9:0,3:0,3:0,6:0,0,3,6 -chr2 131443065 . A C . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|3%2C6;DP=9;ECNT=9;GERMQ=62;MBQ=0,32;MFRL=0,0;MMQ=60,29;MPOS=92;POPAF=7.3;TLOD=30.67;SRC=snv;GRP=s001;CSQ=C|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.1523T>G||1523|||||rs766966247||-1||SNV|HGNC|HGNC:52286|YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,9:0.875:9:0,3:0,3:0,6:0,0,3,6 -chr2 131443078 . G C . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|3%2C6;DP=9;ECNT=9;GERMQ=62;MBQ=0,35;MFRL=0,0;MMQ=60,29;MPOS=79;POPAF=7.3;TLOD=31.1;SRC=snv;GRP=s001;CSQ=C|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.1510C>G||1510|||||rs1410372071||-1||SNV|HGNC|HGNC:52286|YES||||||||||||||||||||||||||||||||6.571e-06|0|0|0|0|0|0|0|1.47e-05|0|0|1.47e-05|gnomADg_NFE||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,9:0.875:9:0,3:0,3:0,6:0,0,3,6 -chr2 131443100 . G C . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|3%2C6;DP=9;ECNT=9;GERMQ=62;MBQ=0,34;MFRL=0,0;MMQ=60,29;MPOS=57;POPAF=7.3;TLOD=31.07;SRC=snv;GRP=s001;CSQ=C|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.1488C>G||1488|||||rs1160164612||-1||SNV|HGNC|HGNC:52286|YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,9:0.875:9:0,3:0,3:0,6:0,0,3,6 -chr2 131443144 . G A . clustered_events;haplotype;strand_bias AS_FilterStatus=strand_bias;AS_SB_TABLE=0%2C0|0%2C5;DP=5;ECNT=9;GERMQ=50;MBQ=0,32;MFRL=0,0;MMQ=60,32;MPOS=28;POPAF=7.3;TLOD=21.72;SRC=snv;GRP=s001;CSQ=A|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.1444C>T||1444|||||rs1469464006||-1||SNV|HGNC|HGNC:52286|YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,5:0.857:5:0,2:0,0:0,5:0|1:131443144_G_A:131443144:0,0,0,5 -chr2 131443146 . T G . clustered_events;haplotype;strand_bias AS_FilterStatus=strand_bias;AS_SB_TABLE=0%2C0|0%2C5;DP=5;ECNT=9;GERMQ=50;MBQ=0,35;MFRL=0,0;MMQ=60,32;MPOS=26;POPAF=7.3;TLOD=21.72;SRC=snv;GRP=s001;CSQ=G|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.1442A>C||1442|||||rs1171422307||-1||SNV|HGNC|HGNC:52286|YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,5:0.857:5:0,2:0,0:0,5:0|1:131443144_G_A:131443144:0,0,0,5 -chr2 131443797 . C G . clustered_events;haplotype;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=4;GERMQ=41;MBQ=0,33;MFRL=0,0;MMQ=60,47;MPOS=132;POPAF=7.3;TLOD=8.7;SRC=snv;GRP=s001;CSQ=G|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.791G>C||791|||||rs113583952||-1||SNV|HGNC|HGNC:52286|YES|||||||||||||||||||||||1.593e-05|6.19e-05|2.894e-05|0|0|0|8.802e-06|0|3.266e-05|1.317e-05|2.422e-05|0|0|0|0|0|0|1.47e-05|0|0|6.19e-05|gnomADe_AFR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,2:0.667:2:0,0:0,1:0,1:0|1:131443797_C_G:131443797:0,0,1,1 -chr2 131443801 . G A . clustered_events;haplotype;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=4;GERMQ=41;MBQ=0,33;MFRL=0,0;MMQ=60,47;MPOS=128;POPAF=7.3;TLOD=8.7;SRC=snv;GRP=s001;CSQ=A|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.787C>T||787|||||rs1704553871||-1||SNV|HGNC|HGNC:52286|YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,2:0.667:2:0,0:0,1:0,1:0|1:131443797_C_G:131443797:0,0,1,1 -chr2 131443807 . G A . clustered_events;haplotype;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=0%2C0|0%2C0;DP=4;ECNT=4;GERMQ=41;MBQ=0,33;MFRL=0,0;MMQ=60,47;MPOS=122;POPAF=7.3;TLOD=8.63;SRC=snv;GRP=s001;CSQ=A|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.781C>T||781|||||rs750463315||-1||SNV|HGNC|HGNC:52286|YES|||||||||||||||||||||||4.377e-05|0|0.0002893|0|0|0|8.799e-06|0|0|7.89e-05|2.414e-05|0|0.0005895|0|0|0|0|2.94e-05|0|0|0.0005895|gnomADg_AMR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,2:0.684:2:0,0:0,1:0,1:0|1:131443797_C_G:131443797:0,0,1,1 -chr2 131443869 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C3;DP=7;ECNT=4;GERMQ=56;MBQ=0,32;MFRL=0,0;MMQ=60,47;MPOS=60;POPAF=7.3;TLOD=21.83;SRC=snv;GRP=s001;CSQ=G|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.719T>C||719|||||rs1220853160||-1||SNV|HGNC|HGNC:52286|YES||||||||||||||||||||||||||||||||6.575e-06|0|0|0|0|0|0|0|1.47e-05|0|0|1.47e-05|gnomADg_NFE||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,7:0.833:7:0,0:0,4:0,4:0,0,4,3 -chr2 131443961 . G A . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|9%2C6;DP=15;ECNT=4;GERMQ=79;MBQ=0,33;MFRL=0,0;MMQ=60,34;MPOS=76;POPAF=7.3;TLOD=66.5;SRC=snv;GRP=s001;CSQ=A|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.627C>T||627|||||rs1354528412||-1||SNV|HGNC|HGNC:52286|YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,15:0.909:15:0,0:0,9:0,9:0|1:131443961_G_A:131443961:0,0,9,6 -chr2 131443973 . T A . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|9%2C6;DP=15;ECNT=4;GERMQ=79;MBQ=0,33;MFRL=0,0;MMQ=60,34;MPOS=64;POPAF=7.3;TLOD=66.5;SRC=snv;GRP=s001;CSQ=A|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.615A>T||615|||||rs781246544||-1||SNV|HGNC|HGNC:52286|YES||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,15:0.909:15:0,0:0,9:0,9:0|1:131443961_G_A:131443961:0,0,9,6 -chr2 131444000 . A G . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|7%2C5;DP=12;ECNT=4;GERMQ=70;MBQ=0,34;MFRL=0,0;MMQ=60,38;MPOS=51;POPAF=7.3;TLOD=53.1;SRC=snv;GRP=s001;CSQ=G|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.588T>C||588|||||rs113464159||-1||SNV|HGNC|HGNC:52286|YES|||||||||||||||||0.0351|0.121|0.0159|0|0.005|0|0.003535|0.04637|0.00193|0.002241|0|0|0.0006525|0.002476|6.539e-05|0.0002459|0.000876|0|6.591e-05|0|0|0|0|0|0.0004812|0|0.121|AFR||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,12:0.889:12:0,0:0,7:0,7:0|1:131444000_A_G:131444000:0,0,7,5 -chr2 131444009 . A G . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|7%2C5;DP=12;ECNT=4;GERMQ=70;MBQ=0,34;MFRL=0,0;MMQ=60,38;MPOS=42;POPAF=7.3;TLOD=53.1;SRC=snv;GRP=s001;CSQ=G|non_coding_transcript_exon_variant|MODIFIER|NOC2LP2|ENSG00000217950|Transcript|ENST00000407594|processed_pseudogene|1/1||ENST00000407594.2:n.579T>C||579|||||rs1806886||-1||SNV|HGNC|HGNC:52286|YES|||||||||||||||||0.4139|0.2958|0.5346|0.7589|0.2366|0.3149|0.3312|0.2259|0.6252|0.3169|0.7544|0.2718|0.2084|0.3059|0.3055|0.2577|0.1924|0.2363|0.4581|0.3132|0.7527|0.2776|0.3089|0.2027|0.2989|0.317|0.7589|EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,12:0.889:12:0,0:0,6:0,7:0|1:131444000_A_G:131444000:0,0,7,5 -chr8 213370 . C G . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=3;GERMQ=1;MBQ=0,35;MFRL=0,0;MMQ=60,22;MPOS=73;POPAF=7.3;TLOD=5.05;SRC=snv;GRP=s001;CSQ=G|non_coding_transcript_exon_variant|MODIFIER|RPL23AP53|ENSG00000223508|Transcript|ENST00000521854|transcribed_processed_pseudogene|1/1||ENST00000521854.1:n.338G>C||338|||||rs7844253||-1||SNV|HGNC|HGNC:35921|YES|||||||||||||||||0.9597|0.9584|0.9712|0.999|0.9175|0.956||||||||||0.9361|0.9497|0.9468|0.9651|0.9482|0.9992|0.869|0.9295|0.9249|0.9485|0.9572|0.9992|gnomADg_EAS|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000292979|Transcript|ENST00000606975|lncRNA|3/3||ENST00000606975.1:n.552G>C||552|||||rs7844253||-1||SNV|||YES|||2||||||||||||||0.9597|0.9584|0.9712|0.999|0.9175|0.956||||||||||0.9361|0.9497|0.9468|0.9651|0.9482|0.9992|0.869|0.9295|0.9249|0.9485|0.9572|0.9992|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr8 213387 . C T . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=3;GERMQ=1;MBQ=0,33;MFRL=0,0;MMQ=60,22;MPOS=56;POPAF=7.3;TLOD=5.05;SRC=snv;GRP=s001;CSQ=T|non_coding_transcript_exon_variant|MODIFIER|RPL23AP53|ENSG00000223508|Transcript|ENST00000521854|transcribed_processed_pseudogene|1/1||ENST00000521854.1:n.321G>A||321|||||rs3008286||-1||SNV|HGNC|HGNC:35921|YES|||||||||||||||||0.6653|0.4697|0.7392|0.8006|0.6909|0.7117||||||||||0.7164|0.6326|0.7975|0.7853|0.7937|0.8533|0.6992|0.6655|0.7266|0.7306|0.7869|0.8533|gnomADg_EAS|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000292979|Transcript|ENST00000606975|lncRNA|3/3||ENST00000606975.1:n.535G>A||535|||||rs3008286||-1||SNV|||YES|||2||||||||||||||0.6653|0.4697|0.7392|0.8006|0.6909|0.7117||||||||||0.7164|0.6326|0.7975|0.7853|0.7937|0.8533|0.6992|0.6655|0.7266|0.7306|0.7869|0.8533|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr8 213438 . C T . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=3;GERMQ=1;MBQ=0,32;MFRL=0,0;MMQ=60,22;MPOS=5;POPAF=7.3;TLOD=5.05;SRC=snv;GRP=s001;CSQ=T|non_coding_transcript_exon_variant|MODIFIER|RPL23AP53|ENSG00000223508|Transcript|ENST00000521854|transcribed_processed_pseudogene|1/1||ENST00000521854.1:n.270G>A||270|||||rs7844396||-1||SNV|HGNC|HGNC:35921|YES|||||||||||||||||0.9597|0.9584|0.9712|0.999|0.9175|0.956||||||||||0.936|0.9504|0.9443|0.9646|0.9473|0.9992|0.8703|0.9295|0.9243|0.9503|0.9583|0.9992|gnomADg_EAS|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000292979|Transcript|ENST00000606975|lncRNA|3/3||ENST00000606975.1:n.484G>A||484|||||rs7844396||-1||SNV|||YES|||2||||||||||||||0.9597|0.9584|0.9712|0.999|0.9175|0.956||||||||||0.936|0.9504|0.9443|0.9646|0.9473|0.9992|0.8703|0.9295|0.9243|0.9503|0.9583|0.9992|gnomADg_EAS||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chrMT 9766 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=17%2C14|1%2C1;DP=33;ECNT=4;GERMQ=39;MBQ=34,33;MFRL=0,0;MMQ=41,36;MPOS=131;POPAF=7.3;TLOD=4.92;SRC=snv;GRP=s001;CSQ=T|upstream_gene_variant|MODIFIER|MT-ND3|ENSG00000198840|Transcript|ENST00000361227|protein_coding|||||||||||293|1||SNV|HGNC|HGNC:7458|YES||||P1||ENSP00000355206|P03897.181|Q7GXZ5.214|UPI0000000AA6||1||||||||||||||||||||||||||||||||||||||||||||MNFALILMINTLLALLLMIITFWLPQLNGYMEKSTPYECGFDPMSPARVPFSMKFFLVAITFLLFDLEIALLLPLPWALQTTNLPLMVMSSLLLIIILALSLAYEWLQKGLDWTE||,T|upstream_gene_variant|MODIFIER|MT-ND4L|ENSG00000212907|Transcript|ENST00000361335|protein_coding|||||||||||704|1||SNV|HGNC|HGNC:7460|YES||||P1||ENSP00000354728|P03901.186|Q7GXZ4.219|UPI0000000AA7||1||||||||||||||||||||||||||||||||||||||||||||MPLIYMNIMLAFTISLLGMLVYRSHLMSSLLCLEGMMLSLFIMATLMTLNTHSLLANIVPIAMLVFAACEAAVGLALLVSISNTYGLDYVHNLNLLQC||,T|upstream_gene_variant|MODIFIER|MT-ND4|ENSG00000198886|Transcript|ENST00000361381|protein_coding|||||||||||994|1||SNV|HGNC|HGNC:7459|YES||||P1||ENSP00000354961|P03905.203|H9EC08.93|UPI0000000AA8||1||||||||||||||||||||||||||||||||||||||||||||MLKLIVPTIMLLPLTWLSKKHMIWINTTTHSLIISIIPLLFFNQINNNLFSCSPTFSSDPLTTPLLMLTTWLLPLTIMASQRHLSSEPLSRKKLYLSMLISLQISLIMTFTATELIMFYIFFETTLIPTLAIITRWGNQPERLNAGTYFLFYTLVGSLPLLIALIYTHNTLGSLNILLLTLTAQELSNSWANNLMWLAYTMAFMVKMPLYGLHLWLPKAHVEAPIAGSMVLAAVLLKLGGYGMMRLTLILNPLTKHMAYPFLVLSLWGMIMTSSICLRQTDLKSLIAYSSISHMALVVTAILIQTPWSFTGAVILMIAHGLTSSLLFCLANSNYERTHSRIMILSQGLQTLLPLMAFWWLLASLANLALPPTINLLGELSVLVTTFSWSNITLLLTGLNMLVTALYSLYMFTTTQWGSLTHHINNMKPSFTRENTLMFMHLSPILLLSLNPDIITGFSS||,T|downstream_gene_variant|MODIFIER|MT-ND2|ENSG00000198763|Transcript|ENST00000361453|protein_coding|||||||||||4255|1||SNV|HGNC|HGNC:7456|YES||||P1||ENSP00000355046|P03891.205|Q7GXY9.217|UPI0000000AA2||1||||||||||||||||||||||||||||||||||||||||||||INPLAQPVIYSTIFAGTLITALSSHWFFTWVGLEMNMLAFIPVLTKKMNPRSTEAAIKYFLTQATASMILLMAILFNNMLSGQWTMTNTTNQYSSLMIMMAMAMKLGMAPFHFWVPEVTQGTPLTSGLLLLTWQKLAPISIMYQISPSLNVSLLLTLSILSIMAGSWGGLNQTQLRKILAYSSITHMGWMMAVLPYNPNMTILNLTIYIILTTTAFLLLNLNSSTTTLLLSRTWNKLTWLTPLIPSTLLSLGGLPPLTGFLPKWAIIEEFTKNNSLIIPTIMATITLLNLYFYLRLIYSTSITLLPMSNNVKMKWQFEHTKPTPFLPTLIALTTLLLPISPFMLMIL||,T|upstream_gene_variant|MODIFIER|MT-ND5|ENSG00000198786|Transcript|ENST00000361567|protein_coding|||||||||||2571|1||SNV|HGNC|HGNC:7461|YES||||P1||ENSP00000354813|P03915.211|U5ZC31.85|UPI0000000A9D||1||||||||||||||||||||||||||||||||||||||||||||MTMHTTMTTLTLTSLIPPILTTLVNPNKKNSYPHYVKSIVASTFIISLFPTTMFMCLDQEVIISNWHWATTQTTQLSLSFKLDYFSMMFIPVALFVTWSIMEFSLWYMNSDPNINQFFKYLLIFLITMLILVTANNLFQLFIGWEGVGIMSFLLISWWYARADANTAAIQAILYNRIGDIGFILALAWFILHSNSWDPQQMALLNANPSLTPLLGLLLAAAGKSAQLGLHPWLPSAMEGPTPVSALLHSSTMVVAGIFLLIRFHPLAENSPLIQTLTLCLGAITTLFAAVCALTQNDIKKIVAFSTSSQLGLMMVTIGINQPHLAFLHICTHAFFKAMLFMCSGSIIHNLNNEQDIRKMGGLLKTMPLTSTSLTIGSLALAGMPFLTGFYSKDHIIETANMSYTNAWALSITLIATSLTSAYSTRMILLTLTGQPRFPTLTNINENNPTLLNPIKRLAAGSLFAGFLITNNISPASPFQTTIPLYLKLTALAVTFLGLLTALDLNYLTNKLKMKSPLCTFYFSNMLGFYPSITHRTIPYLGLLTSQNLPLLLLDLTWLEKLLPKTISQHQISTSIITSTQKGMIKLYFLSFFFPLILTLLLIT||,T|downstream_gene_variant|MODIFIER|MT-CO1|ENSG00000198804|Transcript|ENST00000361624|protein_coding|||||||||||2321|1||SNV|HGNC|HGNC:7419|YES||||P1||ENSP00000354499|P00395.219|U5YWV7.85|UPI0000000AA3||1||||||||||||||||||||||||||||||||||||||||||||MFADRWLFSTNHKDIGTLYLLFGAWAGVLGTALSLLIRAELGQPGNLLGNDHIYNVIVTAHAFVMIFFMVMPIMIGGFGNWLVPLMIGAPDMAFPRMNNMSFWLLPPSLLLLLASAMVEAGAGTGWTVYPPLAGNYSHPGASVDLTIFSLHLAGVSSILGAINFITTIINMKPPAMTQYQTPLFVWSVLITAVLLLLSLPVLAAGITMLLTDRNLNTTFFDPAGGGDPILYQHLFWFFGHPEVYILILPGFGMISHIVTYYSGKKEPFGYMGMVWAMMSIGFLGFIVWAHHMFTVGMDVDTRAYFTSATMIIAIPTGVKVFSWLATLHGSNMKWSAAVLWALGFIFLFTVGGLTGIVLANSSLDIVLHDTYYVVAHFHYVLSMGAVFAIMGGFIHWFPLFSGYTLDQTYAKIHFTIMFIGVNLTFFPQHFLGLSGMPRRYSDYPDAYTTWNILSSVGSFISLTAVMLMIFMIWEAFASKRKVLMVEEPSMNLEWLYGCPPPYHTFEEPVYMKS||,T|downstream_gene_variant|MODIFIER|MT-ND6|ENSG00000198695|Transcript|ENST00000361681|protein_coding|||||||||||4383|-1||SNV|HGNC|HGNC:7462|YES||||P1||ENSP00000354665|P03923.201|U5Z977.85|UPI0000000AA9||1||||||||||||||||||||||||||||||||||||||||||||MMYALFLLSVGLVMGFVGFSSKPSPIYGGLVLIVSGVVGCVIILNFGGGYMGLMVFLIYLGGMMVVFGYTTAMAIEEYPEAWGSGVEVLVSVLVGLAMEVGLVLWVKEYDGVVVVVNFNSVGSWMIYEGEGSGLIREDPIGAGALYDYGRWLVVVTGWTLFVGVYIVIEIARGN||,T|downstream_gene_variant|MODIFIER|MT-CO2|ENSG00000198712|Transcript|ENST00000361739|protein_coding|||||||||||1497|1||SNV|HGNC|HGNC:7421|YES||||P1||ENSP00000354876|P00403.224|U5Z487.85|UPI0000000AA4||1||||||||||||||||||||||||||||||||||||||||||||MAHAAQVGLQDATSPIMEELITFHDHALMIIFLICFLVLYALFLTLTTKLTNTNISDAQEMETVWTILPAIILVLIALPSLRILYMTDEVNDPSLTIKSIGHQWYWTYEYTDYGGLIFNSYMLPPLFLEPGDLRLLDVDNRVVLPIEAPIRMMITSQDVLHSWAVPTLGLKTDAIPGRLNQTTFTATRPGVYYGQCSEICGANHSFMPIVLELIPLKIFEMGPVFTL||,T|upstream_gene_variant|MODIFIER|MT-CYB|ENSG00000198727|Transcript|ENST00000361789|protein_coding|||||||||||4981|1||SNV|HGNC|HGNC:7427|YES||||P1||ENSP00000354554|P00156.226|Q0ZFD6.150|UPI0000DA7DCA||1||||||||||||||||||||||||||||||||||||||||||||MTPMRKTNPLMKLINHSFIDLPTPSNISAWWNFGSLLGACLILQITTGLFLAMHYSPDASTAFSSIAHITRDVNYGWIIRYLHANGASMFFICLFLHIGRGLYYGSFLYSETWNIGIILLLATMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTDLVQWIWGGYSVDSPTLTRFFTFHFILPFIIAALATLHLLFLHETGSNNPLGITSHSDKITFHPYYTIKDALGLLLFLLSLMTLTLFSPDLLGDPDNYTLANPLNTPPHIKPEWYFLFAYTILRSVPNKLGGVLALLLSILILAMIPILHMSKQQSMMFRPLSQSLYWLLAADLLILTWIGGQPVSYPFTIIGQVASVLYFTTILILMPTISLIENKMLKWA||,T|downstream_gene_variant|MODIFIER|MT-ATP8|ENSG00000228253|Transcript|ENST00000361851|protein_coding|||||||||||1194|1||SNV|HGNC|HGNC:7415|YES||||P1||ENSP00000355265|P03928.197|U5YV54.84|UPI0000000AA5||1||||||||||||||||||||||||||||||||||||||||||||MPQLNTTVWPTMITPMLLTLFLITQLKMLNTNYHLPPSPKPMKMKNYNKPWEPKWTKICSLHSLPPQS||,T|downstream_gene_variant|MODIFIER|MT-ATP6|ENSG00000198899|Transcript|ENST00000361899|protein_coding|||||||||||559|1||SNV|HGNC|HGNC:7414|YES||||P1||ENSP00000354632|P00846.213|Q0ZFE3.155|UPI0000001709||1||||||||||||||||||||||||||||||||||||||||||||MNENLFASFIAPTILGLPAAVLIILFPPLLIPTSKYLINNRLITTQQWLIKLTSKQMMTMHNTKGRTWSLMLVSLIIFIATTNLLGLLPHSFTPTTQLSMNLAMAIPLWAGTVIMGFRSKIKNALAHFLPQGTPTPLIPMLVIIETISLLIQPMALAVRLTANITAGHLLMHLIGSATLAMSTINLPSTLIIFTILILLTILEIAVALIQAYVFTLLVSLYLHDNT||,T|missense_variant|MODERATE|MT-CO3|ENSG00000198938|Transcript|ENST00000362079|protein_coding|1/1||ENST00000362079.2:c.560C>T|ENSP00000354982.2:p.Thr187Ile|560|560|187|T/I|aCc/aTc|||1||SNV|HGNC|HGNC:7422|YES||||P1||ENSP00000354982|P00414.205|Q7GIM7.204|UPI0000000369||1|deleterious_low_confidence(0)|benign(0.201)|Gene3D:1.20.120.80&PDB-ENSP_mappings:5z62.C&Pfam:PF00510&PROSITE_profiles:PS50253&PANTHER:PTHR11403&Superfamily:SSF81452&CDD:cd01665|||||||||||||||||||||||||||||||||||||||||MTHQSHAYHMVKPSPWPLTGALSALLMTSGLAMWFHFHSMTLLMLGLLTNTLTMYQWWRDVTRESTYQGHHTPPVQKGLRYGMILFITSEVFFFAGFFWAFYHSSLAPTPQLGGHWPPTGITPLNPLEVPLLNTSVLLASGVSITWAHHSLMENNRNQMIQALLITILLGLYFTLLQASEYFESPFTISDGIYGSTFFVATGFHGLHVIIGSTFLTICFIRQLMFHFTSKHHFGFEAAAWYWHFVDVVWLFLYVSIYWWGS||,T|downstream_gene_variant|MODIFIER|MT-TW|ENSG00000210117|Transcript|ENST00000387382|Mt_tRNA|||||||||||4187|1||SNV|HGNC|HGNC:7501|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|MT-TA|ENSG00000210127|Transcript|ENST00000387392|Mt_tRNA|||||||||||4111|-1||SNV|HGNC|HGNC:7475|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|MT-TN|ENSG00000210135|Transcript|ENST00000387400|Mt_tRNA|||||||||||4037|-1||SNV|HGNC|HGNC:7493|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|MT-TC|ENSG00000210140|Transcript|ENST00000387405|Mt_tRNA|||||||||||3940|-1||SNV|HGNC|HGNC:7477|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|MT-TY|ENSG00000210144|Transcript|ENST00000387409|Mt_tRNA|||||||||||3875|-1||SNV|HGNC|HGNC:7502|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|MT-TS1|ENSG00000210151|Transcript|ENST00000387416|Mt_tRNA|||||||||||2252|-1||SNV|HGNC|HGNC:7497|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|MT-TD|ENSG00000210154|Transcript|ENST00000387419|Mt_tRNA|||||||||||2181|1||SNV|HGNC|HGNC:7478|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|MT-TK|ENSG00000210156|Transcript|ENST00000387421|Mt_tRNA|||||||||||1402|1||SNV|HGNC|HGNC:7489|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|MT-TG|ENSG00000210164|Transcript|ENST00000387429|Mt_tRNA|||||||||||225|1||SNV|HGNC|HGNC:7486|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|MT-TR|ENSG00000210174|Transcript|ENST00000387439|Mt_tRNA|||||||||||639|1||SNV|HGNC|HGNC:7496|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|MT-TH|ENSG00000210176|Transcript|ENST00000387441|Mt_tRNA|||||||||||2372|1||SNV|HGNC|HGNC:7487|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|MT-TS2|ENSG00000210184|Transcript|ENST00000387449|Mt_tRNA|||||||||||2441|1||SNV|HGNC|HGNC:7498|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|MT-TL2|ENSG00000210191|Transcript|ENST00000387456|Mt_tRNA|||||||||||2500|1||SNV|HGNC|HGNC:7491|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|MT-TE|ENSG00000210194|Transcript|ENST00000387459|Mt_tRNA|||||||||||4908|-1||SNV|HGNC|HGNC:7479|YES|||||||||||1|||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:31,2:0.1:33:0,0:16,1:17,1:17,14,1,1 -chrMT 9771 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=16%2C13|1%2C1;DP=33;ECNT=4;GERMQ=34;MBQ=33,32;MFRL=0,0;MMQ=41,38;MPOS=121;POPAF=7.3;TLOD=4.86;SRC=snv;GRP=s001;CSQ=C|upstream_gene_variant|MODIFIER|MT-ND3|ENSG00000198840|Transcript|ENST00000361227|protein_coding||||||||||rs2124595726|288|1||SNV|HGNC|HGNC:7458|YES||||P1||ENSP00000355206|P03897.181|Q7GXZ5.214|UPI0000000AA6||1||||||||||||||||||||||||||||||||||||||||||||MNFALILMINTLLALLLMIITFWLPQLNGYMEKSTPYECGFDPMSPARVPFSMKFFLVAITFLLFDLEIALLLPLPWALQTTNLPLMVMSSLLLIIILALSLAYEWLQKGLDWTE||,C|upstream_gene_variant|MODIFIER|MT-ND4L|ENSG00000212907|Transcript|ENST00000361335|protein_coding||||||||||rs2124595726|699|1||SNV|HGNC|HGNC:7460|YES||||P1||ENSP00000354728|P03901.186|Q7GXZ4.219|UPI0000000AA7||1||||||||||||||||||||||||||||||||||||||||||||MPLIYMNIMLAFTISLLGMLVYRSHLMSSLLCLEGMMLSLFIMATLMTLNTHSLLANIVPIAMLVFAACEAAVGLALLVSISNTYGLDYVHNLNLLQC||,C|upstream_gene_variant|MODIFIER|MT-ND4|ENSG00000198886|Transcript|ENST00000361381|protein_coding||||||||||rs2124595726|989|1||SNV|HGNC|HGNC:7459|YES||||P1||ENSP00000354961|P03905.203|H9EC08.93|UPI0000000AA8||1||||||||||||||||||||||||||||||||||||||||||||MLKLIVPTIMLLPLTWLSKKHMIWINTTTHSLIISIIPLLFFNQINNNLFSCSPTFSSDPLTTPLLMLTTWLLPLTIMASQRHLSSEPLSRKKLYLSMLISLQISLIMTFTATELIMFYIFFETTLIPTLAIITRWGNQPERLNAGTYFLFYTLVGSLPLLIALIYTHNTLGSLNILLLTLTAQELSNSWANNLMWLAYTMAFMVKMPLYGLHLWLPKAHVEAPIAGSMVLAAVLLKLGGYGMMRLTLILNPLTKHMAYPFLVLSLWGMIMTSSICLRQTDLKSLIAYSSISHMALVVTAILIQTPWSFTGAVILMIAHGLTSSLLFCLANSNYERTHSRIMILSQGLQTLLPLMAFWWLLASLANLALPPTINLLGELSVLVTTFSWSNITLLLTGLNMLVTALYSLYMFTTTQWGSLTHHINNMKPSFTRENTLMFMHLSPILLLSLNPDIITGFSS||,C|downstream_gene_variant|MODIFIER|MT-ND2|ENSG00000198763|Transcript|ENST00000361453|protein_coding||||||||||rs2124595726|4260|1||SNV|HGNC|HGNC:7456|YES||||P1||ENSP00000355046|P03891.205|Q7GXY9.217|UPI0000000AA2||1||||||||||||||||||||||||||||||||||||||||||||INPLAQPVIYSTIFAGTLITALSSHWFFTWVGLEMNMLAFIPVLTKKMNPRSTEAAIKYFLTQATASMILLMAILFNNMLSGQWTMTNTTNQYSSLMIMMAMAMKLGMAPFHFWVPEVTQGTPLTSGLLLLTWQKLAPISIMYQISPSLNVSLLLTLSILSIMAGSWGGLNQTQLRKILAYSSITHMGWMMAVLPYNPNMTILNLTIYIILTTTAFLLLNLNSSTTTLLLSRTWNKLTWLTPLIPSTLLSLGGLPPLTGFLPKWAIIEEFTKNNSLIIPTIMATITLLNLYFYLRLIYSTSITLLPMSNNVKMKWQFEHTKPTPFLPTLIALTTLLLPISPFMLMIL||,C|upstream_gene_variant|MODIFIER|MT-ND5|ENSG00000198786|Transcript|ENST00000361567|protein_coding||||||||||rs2124595726|2566|1||SNV|HGNC|HGNC:7461|YES||||P1||ENSP00000354813|P03915.211|U5ZC31.85|UPI0000000A9D||1||||||||||||||||||||||||||||||||||||||||||||MTMHTTMTTLTLTSLIPPILTTLVNPNKKNSYPHYVKSIVASTFIISLFPTTMFMCLDQEVIISNWHWATTQTTQLSLSFKLDYFSMMFIPVALFVTWSIMEFSLWYMNSDPNINQFFKYLLIFLITMLILVTANNLFQLFIGWEGVGIMSFLLISWWYARADANTAAIQAILYNRIGDIGFILALAWFILHSNSWDPQQMALLNANPSLTPLLGLLLAAAGKSAQLGLHPWLPSAMEGPTPVSALLHSSTMVVAGIFLLIRFHPLAENSPLIQTLTLCLGAITTLFAAVCALTQNDIKKIVAFSTSSQLGLMMVTIGINQPHLAFLHICTHAFFKAMLFMCSGSIIHNLNNEQDIRKMGGLLKTMPLTSTSLTIGSLALAGMPFLTGFYSKDHIIETANMSYTNAWALSITLIATSLTSAYSTRMILLTLTGQPRFPTLTNINENNPTLLNPIKRLAAGSLFAGFLITNNISPASPFQTTIPLYLKLTALAVTFLGLLTALDLNYLTNKLKMKSPLCTFYFSNMLGFYPSITHRTIPYLGLLTSQNLPLLLLDLTWLEKLLPKTISQHQISTSIITSTQKGMIKLYFLSFFFPLILTLLLIT||,C|downstream_gene_variant|MODIFIER|MT-CO1|ENSG00000198804|Transcript|ENST00000361624|protein_coding||||||||||rs2124595726|2326|1||SNV|HGNC|HGNC:7419|YES||||P1||ENSP00000354499|P00395.219|U5YWV7.85|UPI0000000AA3||1||||||||||||||||||||||||||||||||||||||||||||MFADRWLFSTNHKDIGTLYLLFGAWAGVLGTALSLLIRAELGQPGNLLGNDHIYNVIVTAHAFVMIFFMVMPIMIGGFGNWLVPLMIGAPDMAFPRMNNMSFWLLPPSLLLLLASAMVEAGAGTGWTVYPPLAGNYSHPGASVDLTIFSLHLAGVSSILGAINFITTIINMKPPAMTQYQTPLFVWSVLITAVLLLLSLPVLAAGITMLLTDRNLNTTFFDPAGGGDPILYQHLFWFFGHPEVYILILPGFGMISHIVTYYSGKKEPFGYMGMVWAMMSIGFLGFIVWAHHMFTVGMDVDTRAYFTSATMIIAIPTGVKVFSWLATLHGSNMKWSAAVLWALGFIFLFTVGGLTGIVLANSSLDIVLHDTYYVVAHFHYVLSMGAVFAIMGGFIHWFPLFSGYTLDQTYAKIHFTIMFIGVNLTFFPQHFLGLSGMPRRYSDYPDAYTTWNILSSVGSFISLTAVMLMIFMIWEAFASKRKVLMVEEPSMNLEWLYGCPPPYHTFEEPVYMKS||,C|downstream_gene_variant|MODIFIER|MT-ND6|ENSG00000198695|Transcript|ENST00000361681|protein_coding||||||||||rs2124595726|4378|-1||SNV|HGNC|HGNC:7462|YES||||P1||ENSP00000354665|P03923.201|U5Z977.85|UPI0000000AA9||1||||||||||||||||||||||||||||||||||||||||||||MMYALFLLSVGLVMGFVGFSSKPSPIYGGLVLIVSGVVGCVIILNFGGGYMGLMVFLIYLGGMMVVFGYTTAMAIEEYPEAWGSGVEVLVSVLVGLAMEVGLVLWVKEYDGVVVVVNFNSVGSWMIYEGEGSGLIREDPIGAGALYDYGRWLVVVTGWTLFVGVYIVIEIARGN||,C|downstream_gene_variant|MODIFIER|MT-CO2|ENSG00000198712|Transcript|ENST00000361739|protein_coding||||||||||rs2124595726|1502|1||SNV|HGNC|HGNC:7421|YES||||P1||ENSP00000354876|P00403.224|U5Z487.85|UPI0000000AA4||1||||||||||||||||||||||||||||||||||||||||||||MAHAAQVGLQDATSPIMEELITFHDHALMIIFLICFLVLYALFLTLTTKLTNTNISDAQEMETVWTILPAIILVLIALPSLRILYMTDEVNDPSLTIKSIGHQWYWTYEYTDYGGLIFNSYMLPPLFLEPGDLRLLDVDNRVVLPIEAPIRMMITSQDVLHSWAVPTLGLKTDAIPGRLNQTTFTATRPGVYYGQCSEICGANHSFMPIVLELIPLKIFEMGPVFTL||,C|upstream_gene_variant|MODIFIER|MT-CYB|ENSG00000198727|Transcript|ENST00000361789|protein_coding||||||||||rs2124595726|4976|1||SNV|HGNC|HGNC:7427|YES||||P1||ENSP00000354554|P00156.226|Q0ZFD6.150|UPI0000DA7DCA||1||||||||||||||||||||||||||||||||||||||||||||MTPMRKTNPLMKLINHSFIDLPTPSNISAWWNFGSLLGACLILQITTGLFLAMHYSPDASTAFSSIAHITRDVNYGWIIRYLHANGASMFFICLFLHIGRGLYYGSFLYSETWNIGIILLLATMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTDLVQWIWGGYSVDSPTLTRFFTFHFILPFIIAALATLHLLFLHETGSNNPLGITSHSDKITFHPYYTIKDALGLLLFLLSLMTLTLFSPDLLGDPDNYTLANPLNTPPHIKPEWYFLFAYTILRSVPNKLGGVLALLLSILILAMIPILHMSKQQSMMFRPLSQSLYWLLAADLLILTWIGGQPVSYPFTIIGQVASVLYFTTILILMPTISLIENKMLKWA||,C|downstream_gene_variant|MODIFIER|MT-ATP8|ENSG00000228253|Transcript|ENST00000361851|protein_coding||||||||||rs2124595726|1199|1||SNV|HGNC|HGNC:7415|YES||||P1||ENSP00000355265|P03928.197|U5YV54.84|UPI0000000AA5||1||||||||||||||||||||||||||||||||||||||||||||MPQLNTTVWPTMITPMLLTLFLITQLKMLNTNYHLPPSPKPMKMKNYNKPWEPKWTKICSLHSLPPQS||,C|downstream_gene_variant|MODIFIER|MT-ATP6|ENSG00000198899|Transcript|ENST00000361899|protein_coding||||||||||rs2124595726|564|1||SNV|HGNC|HGNC:7414|YES||||P1||ENSP00000354632|P00846.213|Q0ZFE3.155|UPI0000001709||1||||||||||||||||||||||||||||||||||||||||||||MNENLFASFIAPTILGLPAAVLIILFPPLLIPTSKYLINNRLITTQQWLIKLTSKQMMTMHNTKGRTWSLMLVSLIIFIATTNLLGLLPHSFTPTTQLSMNLAMAIPLWAGTVIMGFRSKIKNALAHFLPQGTPTPLIPMLVIIETISLLIQPMALAVRLTANITAGHLLMHLIGSATLAMSTINLPSTLIIFTILILLTILEIAVALIQAYVFTLLVSLYLHDNT||,C|missense_variant|MODERATE|MT-CO3|ENSG00000198938|Transcript|ENST00000362079|protein_coding|1/1||ENST00000362079.2:c.565T>C|ENSP00000354982.2:p.Ser189Pro|565|565|189|S/P|Tcc/Ccc|rs2124595726||1||SNV|HGNC|HGNC:7422|YES||||P1||ENSP00000354982|P00414.205|Q7GIM7.204|UPI0000000369||1|deleterious_low_confidence(0)|probably_damaging(0.971)|Gene3D:1.20.120.80&PDB-ENSP_mappings:5z62.C&Pfam:PF00510&PROSITE_profiles:PS50253&PANTHER:PTHR11403&Superfamily:SSF81452&CDD:cd01665|||||||||||||||||||||||||||||||||||||||||MTHQSHAYHMVKPSPWPLTGALSALLMTSGLAMWFHFHSMTLLMLGLLTNTLTMYQWWRDVTRESTYQGHHTPPVQKGLRYGMILFITSEVFFFAGFFWAFYHSSLAPTPQLGGHWPPTGITPLNPLEVPLLNTSVLLASGVSITWAHHSLMENNRNQMIQALLITILLGLYFTLLQASEYFESPFTISDGIYGSTFFVATGFHGLHVIIGSTFLTICFIRQLMFHFTSKHHFGFEAAAWYWHFVDVVWLFLYVSIYWWGS||,C|downstream_gene_variant|MODIFIER|MT-TW|ENSG00000210117|Transcript|ENST00000387382|Mt_tRNA||||||||||rs2124595726|4192|1||SNV|HGNC|HGNC:7501|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|MT-TA|ENSG00000210127|Transcript|ENST00000387392|Mt_tRNA||||||||||rs2124595726|4116|-1||SNV|HGNC|HGNC:7475|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|MT-TN|ENSG00000210135|Transcript|ENST00000387400|Mt_tRNA||||||||||rs2124595726|4042|-1||SNV|HGNC|HGNC:7493|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|MT-TC|ENSG00000210140|Transcript|ENST00000387405|Mt_tRNA||||||||||rs2124595726|3945|-1||SNV|HGNC|HGNC:7477|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|MT-TY|ENSG00000210144|Transcript|ENST00000387409|Mt_tRNA||||||||||rs2124595726|3880|-1||SNV|HGNC|HGNC:7502|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|MT-TS1|ENSG00000210151|Transcript|ENST00000387416|Mt_tRNA||||||||||rs2124595726|2257|-1||SNV|HGNC|HGNC:7497|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|MT-TD|ENSG00000210154|Transcript|ENST00000387419|Mt_tRNA||||||||||rs2124595726|2186|1||SNV|HGNC|HGNC:7478|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|MT-TK|ENSG00000210156|Transcript|ENST00000387421|Mt_tRNA||||||||||rs2124595726|1407|1||SNV|HGNC|HGNC:7489|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|MT-TG|ENSG00000210164|Transcript|ENST00000387429|Mt_tRNA||||||||||rs2124595726|220|1||SNV|HGNC|HGNC:7486|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|MT-TR|ENSG00000210174|Transcript|ENST00000387439|Mt_tRNA||||||||||rs2124595726|634|1||SNV|HGNC|HGNC:7496|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|MT-TH|ENSG00000210176|Transcript|ENST00000387441|Mt_tRNA||||||||||rs2124595726|2367|1||SNV|HGNC|HGNC:7487|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|MT-TS2|ENSG00000210184|Transcript|ENST00000387449|Mt_tRNA||||||||||rs2124595726|2436|1||SNV|HGNC|HGNC:7498|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|MT-TL2|ENSG00000210191|Transcript|ENST00000387456|Mt_tRNA||||||||||rs2124595726|2495|1||SNV|HGNC|HGNC:7491|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|MT-TE|ENSG00000210194|Transcript|ENST00000387459|Mt_tRNA||||||||||rs2124595726|4903|-1||SNV|HGNC|HGNC:7479|YES|||||||||||1|||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:29,2:0.104:31:0,0:16,1:16,1:16,13,1,1 -chrMT 9774 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=9%2C7|6%2C6;DP=31;ECNT=4;GERMQ=1;MBQ=32,33;MFRL=0,0;MMQ=42,41;MPOS=137;POPAF=7.3;TLOD=39.89;SRC=snv;GRP=s001;CSQ=A|upstream_gene_variant|MODIFIER|MT-ND3|ENSG00000198840|Transcript|ENST00000361227|protein_coding||||||||||COSV106107947|285|1||SNV|HGNC|HGNC:7458|YES||||P1||ENSP00000355206|P03897.181|Q7GXZ5.214|UPI0000000AA6||1|||||||||||||||||||||||||||||||||||1|1||||||||MNFALILMINTLLALLLMIITFWLPQLNGYMEKSTPYECGFDPMSPARVPFSMKFFLVAITFLLFDLEIALLLPLPWALQTTNLPLMVMSSLLLIIILALSLAYEWLQKGLDWTE||,A|upstream_gene_variant|MODIFIER|MT-ND4L|ENSG00000212907|Transcript|ENST00000361335|protein_coding||||||||||COSV106107947|696|1||SNV|HGNC|HGNC:7460|YES||||P1||ENSP00000354728|P03901.186|Q7GXZ4.219|UPI0000000AA7||1|||||||||||||||||||||||||||||||||||1|1||||||||MPLIYMNIMLAFTISLLGMLVYRSHLMSSLLCLEGMMLSLFIMATLMTLNTHSLLANIVPIAMLVFAACEAAVGLALLVSISNTYGLDYVHNLNLLQC||,A|upstream_gene_variant|MODIFIER|MT-ND4|ENSG00000198886|Transcript|ENST00000361381|protein_coding||||||||||COSV106107947|986|1||SNV|HGNC|HGNC:7459|YES||||P1||ENSP00000354961|P03905.203|H9EC08.93|UPI0000000AA8||1|||||||||||||||||||||||||||||||||||1|1||||||||MLKLIVPTIMLLPLTWLSKKHMIWINTTTHSLIISIIPLLFFNQINNNLFSCSPTFSSDPLTTPLLMLTTWLLPLTIMASQRHLSSEPLSRKKLYLSMLISLQISLIMTFTATELIMFYIFFETTLIPTLAIITRWGNQPERLNAGTYFLFYTLVGSLPLLIALIYTHNTLGSLNILLLTLTAQELSNSWANNLMWLAYTMAFMVKMPLYGLHLWLPKAHVEAPIAGSMVLAAVLLKLGGYGMMRLTLILNPLTKHMAYPFLVLSLWGMIMTSSICLRQTDLKSLIAYSSISHMALVVTAILIQTPWSFTGAVILMIAHGLTSSLLFCLANSNYERTHSRIMILSQGLQTLLPLMAFWWLLASLANLALPPTINLLGELSVLVTTFSWSNITLLLTGLNMLVTALYSLYMFTTTQWGSLTHHINNMKPSFTRENTLMFMHLSPILLLSLNPDIITGFSS||,A|downstream_gene_variant|MODIFIER|MT-ND2|ENSG00000198763|Transcript|ENST00000361453|protein_coding||||||||||COSV106107947|4263|1||SNV|HGNC|HGNC:7456|YES||||P1||ENSP00000355046|P03891.205|Q7GXY9.217|UPI0000000AA2||1|||||||||||||||||||||||||||||||||||1|1||||||||INPLAQPVIYSTIFAGTLITALSSHWFFTWVGLEMNMLAFIPVLTKKMNPRSTEAAIKYFLTQATASMILLMAILFNNMLSGQWTMTNTTNQYSSLMIMMAMAMKLGMAPFHFWVPEVTQGTPLTSGLLLLTWQKLAPISIMYQISPSLNVSLLLTLSILSIMAGSWGGLNQTQLRKILAYSSITHMGWMMAVLPYNPNMTILNLTIYIILTTTAFLLLNLNSSTTTLLLSRTWNKLTWLTPLIPSTLLSLGGLPPLTGFLPKWAIIEEFTKNNSLIIPTIMATITLLNLYFYLRLIYSTSITLLPMSNNVKMKWQFEHTKPTPFLPTLIALTTLLLPISPFMLMIL||,A|upstream_gene_variant|MODIFIER|MT-ND5|ENSG00000198786|Transcript|ENST00000361567|protein_coding||||||||||COSV106107947|2563|1||SNV|HGNC|HGNC:7461|YES||||P1||ENSP00000354813|P03915.211|U5ZC31.85|UPI0000000A9D||1|||||||||||||||||||||||||||||||||||1|1||||||||MTMHTTMTTLTLTSLIPPILTTLVNPNKKNSYPHYVKSIVASTFIISLFPTTMFMCLDQEVIISNWHWATTQTTQLSLSFKLDYFSMMFIPVALFVTWSIMEFSLWYMNSDPNINQFFKYLLIFLITMLILVTANNLFQLFIGWEGVGIMSFLLISWWYARADANTAAIQAILYNRIGDIGFILALAWFILHSNSWDPQQMALLNANPSLTPLLGLLLAAAGKSAQLGLHPWLPSAMEGPTPVSALLHSSTMVVAGIFLLIRFHPLAENSPLIQTLTLCLGAITTLFAAVCALTQNDIKKIVAFSTSSQLGLMMVTIGINQPHLAFLHICTHAFFKAMLFMCSGSIIHNLNNEQDIRKMGGLLKTMPLTSTSLTIGSLALAGMPFLTGFYSKDHIIETANMSYTNAWALSITLIATSLTSAYSTRMILLTLTGQPRFPTLTNINENNPTLLNPIKRLAAGSLFAGFLITNNISPASPFQTTIPLYLKLTALAVTFLGLLTALDLNYLTNKLKMKSPLCTFYFSNMLGFYPSITHRTIPYLGLLTSQNLPLLLLDLTWLEKLLPKTISQHQISTSIITSTQKGMIKLYFLSFFFPLILTLLLIT||,A|downstream_gene_variant|MODIFIER|MT-CO1|ENSG00000198804|Transcript|ENST00000361624|protein_coding||||||||||COSV106107947|2329|1||SNV|HGNC|HGNC:7419|YES||||P1||ENSP00000354499|P00395.219|U5YWV7.85|UPI0000000AA3||1|||||||||||||||||||||||||||||||||||1|1||||||||MFADRWLFSTNHKDIGTLYLLFGAWAGVLGTALSLLIRAELGQPGNLLGNDHIYNVIVTAHAFVMIFFMVMPIMIGGFGNWLVPLMIGAPDMAFPRMNNMSFWLLPPSLLLLLASAMVEAGAGTGWTVYPPLAGNYSHPGASVDLTIFSLHLAGVSSILGAINFITTIINMKPPAMTQYQTPLFVWSVLITAVLLLLSLPVLAAGITMLLTDRNLNTTFFDPAGGGDPILYQHLFWFFGHPEVYILILPGFGMISHIVTYYSGKKEPFGYMGMVWAMMSIGFLGFIVWAHHMFTVGMDVDTRAYFTSATMIIAIPTGVKVFSWLATLHGSNMKWSAAVLWALGFIFLFTVGGLTGIVLANSSLDIVLHDTYYVVAHFHYVLSMGAVFAIMGGFIHWFPLFSGYTLDQTYAKIHFTIMFIGVNLTFFPQHFLGLSGMPRRYSDYPDAYTTWNILSSVGSFISLTAVMLMIFMIWEAFASKRKVLMVEEPSMNLEWLYGCPPPYHTFEEPVYMKS||,A|downstream_gene_variant|MODIFIER|MT-ND6|ENSG00000198695|Transcript|ENST00000361681|protein_coding||||||||||COSV106107947|4375|-1||SNV|HGNC|HGNC:7462|YES||||P1||ENSP00000354665|P03923.201|U5Z977.85|UPI0000000AA9||1|||||||||||||||||||||||||||||||||||1|1||||||||MMYALFLLSVGLVMGFVGFSSKPSPIYGGLVLIVSGVVGCVIILNFGGGYMGLMVFLIYLGGMMVVFGYTTAMAIEEYPEAWGSGVEVLVSVLVGLAMEVGLVLWVKEYDGVVVVVNFNSVGSWMIYEGEGSGLIREDPIGAGALYDYGRWLVVVTGWTLFVGVYIVIEIARGN||,A|downstream_gene_variant|MODIFIER|MT-CO2|ENSG00000198712|Transcript|ENST00000361739|protein_coding||||||||||COSV106107947|1505|1||SNV|HGNC|HGNC:7421|YES||||P1||ENSP00000354876|P00403.224|U5Z487.85|UPI0000000AA4||1|||||||||||||||||||||||||||||||||||1|1||||||||MAHAAQVGLQDATSPIMEELITFHDHALMIIFLICFLVLYALFLTLTTKLTNTNISDAQEMETVWTILPAIILVLIALPSLRILYMTDEVNDPSLTIKSIGHQWYWTYEYTDYGGLIFNSYMLPPLFLEPGDLRLLDVDNRVVLPIEAPIRMMITSQDVLHSWAVPTLGLKTDAIPGRLNQTTFTATRPGVYYGQCSEICGANHSFMPIVLELIPLKIFEMGPVFTL||,A|upstream_gene_variant|MODIFIER|MT-CYB|ENSG00000198727|Transcript|ENST00000361789|protein_coding||||||||||COSV106107947|4973|1||SNV|HGNC|HGNC:7427|YES||||P1||ENSP00000354554|P00156.226|Q0ZFD6.150|UPI0000DA7DCA||1|||||||||||||||||||||||||||||||||||1|1||||||||MTPMRKTNPLMKLINHSFIDLPTPSNISAWWNFGSLLGACLILQITTGLFLAMHYSPDASTAFSSIAHITRDVNYGWIIRYLHANGASMFFICLFLHIGRGLYYGSFLYSETWNIGIILLLATMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTDLVQWIWGGYSVDSPTLTRFFTFHFILPFIIAALATLHLLFLHETGSNNPLGITSHSDKITFHPYYTIKDALGLLLFLLSLMTLTLFSPDLLGDPDNYTLANPLNTPPHIKPEWYFLFAYTILRSVPNKLGGVLALLLSILILAMIPILHMSKQQSMMFRPLSQSLYWLLAADLLILTWIGGQPVSYPFTIIGQVASVLYFTTILILMPTISLIENKMLKWA||,A|downstream_gene_variant|MODIFIER|MT-ATP8|ENSG00000228253|Transcript|ENST00000361851|protein_coding||||||||||COSV106107947|1202|1||SNV|HGNC|HGNC:7415|YES||||P1||ENSP00000355265|P03928.197|U5YV54.84|UPI0000000AA5||1|||||||||||||||||||||||||||||||||||1|1||||||||MPQLNTTVWPTMITPMLLTLFLITQLKMLNTNYHLPPSPKPMKMKNYNKPWEPKWTKICSLHSLPPQS||,A|downstream_gene_variant|MODIFIER|MT-ATP6|ENSG00000198899|Transcript|ENST00000361899|protein_coding||||||||||COSV106107947|567|1||SNV|HGNC|HGNC:7414|YES||||P1||ENSP00000354632|P00846.213|Q0ZFE3.155|UPI0000001709||1|||||||||||||||||||||||||||||||||||1|1||||||||MNENLFASFIAPTILGLPAAVLIILFPPLLIPTSKYLINNRLITTQQWLIKLTSKQMMTMHNTKGRTWSLMLVSLIIFIATTNLLGLLPHSFTPTTQLSMNLAMAIPLWAGTVIMGFRSKIKNALAHFLPQGTPTPLIPMLVIIETISLLIQPMALAVRLTANITAGHLLMHLIGSATLAMSTINLPSTLIIFTILILLTILEIAVALIQAYVFTLLVSLYLHDNT||,A|missense_variant|MODERATE|MT-CO3|ENSG00000198938|Transcript|ENST00000362079|protein_coding|1/1||ENST00000362079.2:c.568G>A|ENSP00000354982.2:p.Asp190Asn|568|568|190|D/N|Gac/Aac|COSV106107947||1||SNV|HGNC|HGNC:7422|YES||||P1||ENSP00000354982|P00414.205|Q7GIM7.204|UPI0000000369||1|deleterious_low_confidence(0)|probably_damaging(0.986)|Gene3D:1.20.120.80&PDB-ENSP_mappings:5z62.C&Pfam:PF00510&PROSITE_profiles:PS50253&PANTHER:PTHR11403&Superfamily:SSF81452&CDD:cd01665||||||||||||||||||||||||||||||||1|1||||||||MTHQSHAYHMVKPSPWPLTGALSALLMTSGLAMWFHFHSMTLLMLGLLTNTLTMYQWWRDVTRESTYQGHHTPPVQKGLRYGMILFITSEVFFFAGFFWAFYHSSLAPTPQLGGHWPPTGITPLNPLEVPLLNTSVLLASGVSITWAHHSLMENNRNQMIQALLITILLGLYFTLLQASEYFESPFTISDGIYGSTFFVATGFHGLHVIIGSTFLTICFIRQLMFHFTSKHHFGFEAAAWYWHFVDVVWLFLYVSIYWWGS||,A|downstream_gene_variant|MODIFIER|MT-TW|ENSG00000210117|Transcript|ENST00000387382|Mt_tRNA||||||||||COSV106107947|4195|1||SNV|HGNC|HGNC:7501|YES|||||||||||1|||||||||||||||||||||||||||||||||||1|1||||||||||,A|upstream_gene_variant|MODIFIER|MT-TA|ENSG00000210127|Transcript|ENST00000387392|Mt_tRNA||||||||||COSV106107947|4119|-1||SNV|HGNC|HGNC:7475|YES||||||||||||||||||||||||||||||||||||||||||||||1|1||||||||||,A|upstream_gene_variant|MODIFIER|MT-TN|ENSG00000210135|Transcript|ENST00000387400|Mt_tRNA||||||||||COSV106107947|4045|-1||SNV|HGNC|HGNC:7493|YES|||||||||||1|||||||||||||||||||||||||||||||||||1|1||||||||||,A|upstream_gene_variant|MODIFIER|MT-TC|ENSG00000210140|Transcript|ENST00000387405|Mt_tRNA||||||||||COSV106107947|3948|-1||SNV|HGNC|HGNC:7477|YES||||||||||||||||||||||||||||||||||||||||||||||1|1||||||||||,A|upstream_gene_variant|MODIFIER|MT-TY|ENSG00000210144|Transcript|ENST00000387409|Mt_tRNA||||||||||COSV106107947|3883|-1||SNV|HGNC|HGNC:7502|YES||||||||||||||||||||||||||||||||||||||||||||||1|1||||||||||,A|upstream_gene_variant|MODIFIER|MT-TS1|ENSG00000210151|Transcript|ENST00000387416|Mt_tRNA||||||||||COSV106107947|2260|-1||SNV|HGNC|HGNC:7497|YES|||||||||||1|||||||||||||||||||||||||||||||||||1|1||||||||||,A|downstream_gene_variant|MODIFIER|MT-TD|ENSG00000210154|Transcript|ENST00000387419|Mt_tRNA||||||||||COSV106107947|2189|1||SNV|HGNC|HGNC:7478|YES||||||||||||||||||||||||||||||||||||||||||||||1|1||||||||||,A|downstream_gene_variant|MODIFIER|MT-TK|ENSG00000210156|Transcript|ENST00000387421|Mt_tRNA||||||||||COSV106107947|1410|1||SNV|HGNC|HGNC:7489|YES|||||||||||1|||||||||||||||||||||||||||||||||||1|1||||||||||,A|upstream_gene_variant|MODIFIER|MT-TG|ENSG00000210164|Transcript|ENST00000387429|Mt_tRNA||||||||||COSV106107947|217|1||SNV|HGNC|HGNC:7486|YES|||||||||||1|||||||||||||||||||||||||||||||||||1|1||||||||||,A|upstream_gene_variant|MODIFIER|MT-TR|ENSG00000210174|Transcript|ENST00000387439|Mt_tRNA||||||||||COSV106107947|631|1||SNV|HGNC|HGNC:7496|YES||||||||||||||||||||||||||||||||||||||||||||||1|1||||||||||,A|upstream_gene_variant|MODIFIER|MT-TH|ENSG00000210176|Transcript|ENST00000387441|Mt_tRNA||||||||||COSV106107947|2364|1||SNV|HGNC|HGNC:7487|YES|||||||||||1|||||||||||||||||||||||||||||||||||1|1||||||||||,A|upstream_gene_variant|MODIFIER|MT-TS2|ENSG00000210184|Transcript|ENST00000387449|Mt_tRNA||||||||||COSV106107947|2433|1||SNV|HGNC|HGNC:7498|YES|||||||||||1|||||||||||||||||||||||||||||||||||1|1||||||||||,A|upstream_gene_variant|MODIFIER|MT-TL2|ENSG00000210191|Transcript|ENST00000387456|Mt_tRNA||||||||||COSV106107947|2492|1||SNV|HGNC|HGNC:7491|YES|||||||||||1|||||||||||||||||||||||||||||||||||1|1||||||||||,A|downstream_gene_variant|MODIFIER|MT-TE|ENSG00000210194|Transcript|ENST00000387459|Mt_tRNA||||||||||COSV106107947|4900|-1||SNV|HGNC|HGNC:7479|YES|||||||||||1|||||||||||||||||||||||||||||||||||1|1|||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:16,12:0.411:28:0,0:9,6:9,6:9,7,6,6 -chrMT 9780 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C1|1%2C1;DP=15;ECNT=4;GERMQ=1;MBQ=31,21;MFRL=0,0;MMQ=33,54;MPOS=141;POPAF=7.3;TLOD=3.34;SRC=snv;GRP=s001;CSQ=G|upstream_gene_variant|MODIFIER|MT-ND3|ENSG00000198840|Transcript|ENST00000361227|protein_coding||||||||||rs1603222496|279|1||SNV|HGNC|HGNC:7458|YES||||P1||ENSP00000355206|P03897.181|Q7GXZ5.214|UPI0000000AA6||1||||||||||||||||||||||||||||||||||||||||||||MNFALILMINTLLALLLMIITFWLPQLNGYMEKSTPYECGFDPMSPARVPFSMKFFLVAITFLLFDLEIALLLPLPWALQTTNLPLMVMSSLLLIIILALSLAYEWLQKGLDWTE||,G|upstream_gene_variant|MODIFIER|MT-ND4L|ENSG00000212907|Transcript|ENST00000361335|protein_coding||||||||||rs1603222496|690|1||SNV|HGNC|HGNC:7460|YES||||P1||ENSP00000354728|P03901.186|Q7GXZ4.219|UPI0000000AA7||1||||||||||||||||||||||||||||||||||||||||||||MPLIYMNIMLAFTISLLGMLVYRSHLMSSLLCLEGMMLSLFIMATLMTLNTHSLLANIVPIAMLVFAACEAAVGLALLVSISNTYGLDYVHNLNLLQC||,G|upstream_gene_variant|MODIFIER|MT-ND4|ENSG00000198886|Transcript|ENST00000361381|protein_coding||||||||||rs1603222496|980|1||SNV|HGNC|HGNC:7459|YES||||P1||ENSP00000354961|P03905.203|H9EC08.93|UPI0000000AA8||1||||||||||||||||||||||||||||||||||||||||||||MLKLIVPTIMLLPLTWLSKKHMIWINTTTHSLIISIIPLLFFNQINNNLFSCSPTFSSDPLTTPLLMLTTWLLPLTIMASQRHLSSEPLSRKKLYLSMLISLQISLIMTFTATELIMFYIFFETTLIPTLAIITRWGNQPERLNAGTYFLFYTLVGSLPLLIALIYTHNTLGSLNILLLTLTAQELSNSWANNLMWLAYTMAFMVKMPLYGLHLWLPKAHVEAPIAGSMVLAAVLLKLGGYGMMRLTLILNPLTKHMAYPFLVLSLWGMIMTSSICLRQTDLKSLIAYSSISHMALVVTAILIQTPWSFTGAVILMIAHGLTSSLLFCLANSNYERTHSRIMILSQGLQTLLPLMAFWWLLASLANLALPPTINLLGELSVLVTTFSWSNITLLLTGLNMLVTALYSLYMFTTTQWGSLTHHINNMKPSFTRENTLMFMHLSPILLLSLNPDIITGFSS||,G|downstream_gene_variant|MODIFIER|MT-ND2|ENSG00000198763|Transcript|ENST00000361453|protein_coding||||||||||rs1603222496|4269|1||SNV|HGNC|HGNC:7456|YES||||P1||ENSP00000355046|P03891.205|Q7GXY9.217|UPI0000000AA2||1||||||||||||||||||||||||||||||||||||||||||||INPLAQPVIYSTIFAGTLITALSSHWFFTWVGLEMNMLAFIPVLTKKMNPRSTEAAIKYFLTQATASMILLMAILFNNMLSGQWTMTNTTNQYSSLMIMMAMAMKLGMAPFHFWVPEVTQGTPLTSGLLLLTWQKLAPISIMYQISPSLNVSLLLTLSILSIMAGSWGGLNQTQLRKILAYSSITHMGWMMAVLPYNPNMTILNLTIYIILTTTAFLLLNLNSSTTTLLLSRTWNKLTWLTPLIPSTLLSLGGLPPLTGFLPKWAIIEEFTKNNSLIIPTIMATITLLNLYFYLRLIYSTSITLLPMSNNVKMKWQFEHTKPTPFLPTLIALTTLLLPISPFMLMIL||,G|upstream_gene_variant|MODIFIER|MT-ND5|ENSG00000198786|Transcript|ENST00000361567|protein_coding||||||||||rs1603222496|2557|1||SNV|HGNC|HGNC:7461|YES||||P1||ENSP00000354813|P03915.211|U5ZC31.85|UPI0000000A9D||1||||||||||||||||||||||||||||||||||||||||||||MTMHTTMTTLTLTSLIPPILTTLVNPNKKNSYPHYVKSIVASTFIISLFPTTMFMCLDQEVIISNWHWATTQTTQLSLSFKLDYFSMMFIPVALFVTWSIMEFSLWYMNSDPNINQFFKYLLIFLITMLILVTANNLFQLFIGWEGVGIMSFLLISWWYARADANTAAIQAILYNRIGDIGFILALAWFILHSNSWDPQQMALLNANPSLTPLLGLLLAAAGKSAQLGLHPWLPSAMEGPTPVSALLHSSTMVVAGIFLLIRFHPLAENSPLIQTLTLCLGAITTLFAAVCALTQNDIKKIVAFSTSSQLGLMMVTIGINQPHLAFLHICTHAFFKAMLFMCSGSIIHNLNNEQDIRKMGGLLKTMPLTSTSLTIGSLALAGMPFLTGFYSKDHIIETANMSYTNAWALSITLIATSLTSAYSTRMILLTLTGQPRFPTLTNINENNPTLLNPIKRLAAGSLFAGFLITNNISPASPFQTTIPLYLKLTALAVTFLGLLTALDLNYLTNKLKMKSPLCTFYFSNMLGFYPSITHRTIPYLGLLTSQNLPLLLLDLTWLEKLLPKTISQHQISTSIITSTQKGMIKLYFLSFFFPLILTLLLIT||,G|downstream_gene_variant|MODIFIER|MT-CO1|ENSG00000198804|Transcript|ENST00000361624|protein_coding||||||||||rs1603222496|2335|1||SNV|HGNC|HGNC:7419|YES||||P1||ENSP00000354499|P00395.219|U5YWV7.85|UPI0000000AA3||1||||||||||||||||||||||||||||||||||||||||||||MFADRWLFSTNHKDIGTLYLLFGAWAGVLGTALSLLIRAELGQPGNLLGNDHIYNVIVTAHAFVMIFFMVMPIMIGGFGNWLVPLMIGAPDMAFPRMNNMSFWLLPPSLLLLLASAMVEAGAGTGWTVYPPLAGNYSHPGASVDLTIFSLHLAGVSSILGAINFITTIINMKPPAMTQYQTPLFVWSVLITAVLLLLSLPVLAAGITMLLTDRNLNTTFFDPAGGGDPILYQHLFWFFGHPEVYILILPGFGMISHIVTYYSGKKEPFGYMGMVWAMMSIGFLGFIVWAHHMFTVGMDVDTRAYFTSATMIIAIPTGVKVFSWLATLHGSNMKWSAAVLWALGFIFLFTVGGLTGIVLANSSLDIVLHDTYYVVAHFHYVLSMGAVFAIMGGFIHWFPLFSGYTLDQTYAKIHFTIMFIGVNLTFFPQHFLGLSGMPRRYSDYPDAYTTWNILSSVGSFISLTAVMLMIFMIWEAFASKRKVLMVEEPSMNLEWLYGCPPPYHTFEEPVYMKS||,G|downstream_gene_variant|MODIFIER|MT-ND6|ENSG00000198695|Transcript|ENST00000361681|protein_coding||||||||||rs1603222496|4369|-1||SNV|HGNC|HGNC:7462|YES||||P1||ENSP00000354665|P03923.201|U5Z977.85|UPI0000000AA9||1||||||||||||||||||||||||||||||||||||||||||||MMYALFLLSVGLVMGFVGFSSKPSPIYGGLVLIVSGVVGCVIILNFGGGYMGLMVFLIYLGGMMVVFGYTTAMAIEEYPEAWGSGVEVLVSVLVGLAMEVGLVLWVKEYDGVVVVVNFNSVGSWMIYEGEGSGLIREDPIGAGALYDYGRWLVVVTGWTLFVGVYIVIEIARGN||,G|downstream_gene_variant|MODIFIER|MT-CO2|ENSG00000198712|Transcript|ENST00000361739|protein_coding||||||||||rs1603222496|1511|1||SNV|HGNC|HGNC:7421|YES||||P1||ENSP00000354876|P00403.224|U5Z487.85|UPI0000000AA4||1||||||||||||||||||||||||||||||||||||||||||||MAHAAQVGLQDATSPIMEELITFHDHALMIIFLICFLVLYALFLTLTTKLTNTNISDAQEMETVWTILPAIILVLIALPSLRILYMTDEVNDPSLTIKSIGHQWYWTYEYTDYGGLIFNSYMLPPLFLEPGDLRLLDVDNRVVLPIEAPIRMMITSQDVLHSWAVPTLGLKTDAIPGRLNQTTFTATRPGVYYGQCSEICGANHSFMPIVLELIPLKIFEMGPVFTL||,G|upstream_gene_variant|MODIFIER|MT-CYB|ENSG00000198727|Transcript|ENST00000361789|protein_coding||||||||||rs1603222496|4967|1||SNV|HGNC|HGNC:7427|YES||||P1||ENSP00000354554|P00156.226|Q0ZFD6.150|UPI0000DA7DCA||1||||||||||||||||||||||||||||||||||||||||||||MTPMRKTNPLMKLINHSFIDLPTPSNISAWWNFGSLLGACLILQITTGLFLAMHYSPDASTAFSSIAHITRDVNYGWIIRYLHANGASMFFICLFLHIGRGLYYGSFLYSETWNIGIILLLATMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTDLVQWIWGGYSVDSPTLTRFFTFHFILPFIIAALATLHLLFLHETGSNNPLGITSHSDKITFHPYYTIKDALGLLLFLLSLMTLTLFSPDLLGDPDNYTLANPLNTPPHIKPEWYFLFAYTILRSVPNKLGGVLALLLSILILAMIPILHMSKQQSMMFRPLSQSLYWLLAADLLILTWIGGQPVSYPFTIIGQVASVLYFTTILILMPTISLIENKMLKWA||,G|downstream_gene_variant|MODIFIER|MT-ATP8|ENSG00000228253|Transcript|ENST00000361851|protein_coding||||||||||rs1603222496|1208|1||SNV|HGNC|HGNC:7415|YES||||P1||ENSP00000355265|P03928.197|U5YV54.84|UPI0000000AA5||1||||||||||||||||||||||||||||||||||||||||||||MPQLNTTVWPTMITPMLLTLFLITQLKMLNTNYHLPPSPKPMKMKNYNKPWEPKWTKICSLHSLPPQS||,G|downstream_gene_variant|MODIFIER|MT-ATP6|ENSG00000198899|Transcript|ENST00000361899|protein_coding||||||||||rs1603222496|573|1||SNV|HGNC|HGNC:7414|YES||||P1||ENSP00000354632|P00846.213|Q0ZFE3.155|UPI0000001709||1||||||||||||||||||||||||||||||||||||||||||||MNENLFASFIAPTILGLPAAVLIILFPPLLIPTSKYLINNRLITTQQWLIKLTSKQMMTMHNTKGRTWSLMLVSLIIFIATTNLLGLLPHSFTPTTQLSMNLAMAIPLWAGTVIMGFRSKIKNALAHFLPQGTPTPLIPMLVIIETISLLIQPMALAVRLTANITAGHLLMHLIGSATLAMSTINLPSTLIIFTILILLTILEIAVALIQAYVFTLLVSLYLHDNT||,G|missense_variant|MODERATE|MT-CO3|ENSG00000198938|Transcript|ENST00000362079|protein_coding|1/1||ENST00000362079.2:c.574A>G|ENSP00000354982.2:p.Ile192Val|574|574|192|I/V|Atc/Gtc|rs1603222496||1||SNV|HGNC|HGNC:7422|YES||||P1||ENSP00000354982|P00414.205|Q7GIM7.204|UPI0000000369||1|tolerated_low_confidence(1)|possibly_damaging(0.839)|Gene3D:1.20.120.80&PDB-ENSP_mappings:5z62.C&Pfam:PF00510&PROSITE_profiles:PS50253&PANTHER:PTHR11403&Superfamily:SSF81452&CDD:cd01665|||||||||||||||||||||||||||||||||||||||||MTHQSHAYHMVKPSPWPLTGALSALLMTSGLAMWFHFHSMTLLMLGLLTNTLTMYQWWRDVTRESTYQGHHTPPVQKGLRYGMILFITSEVFFFAGFFWAFYHSSLAPTPQLGGHWPPTGITPLNPLEVPLLNTSVLLASGVSITWAHHSLMENNRNQMIQALLITILLGLYFTLLQASEYFESPFTISDGIYGSTFFVATGFHGLHVIIGSTFLTICFIRQLMFHFTSKHHFGFEAAAWYWHFVDVVWLFLYVSIYWWGS||,G|downstream_gene_variant|MODIFIER|MT-TW|ENSG00000210117|Transcript|ENST00000387382|Mt_tRNA||||||||||rs1603222496|4201|1||SNV|HGNC|HGNC:7501|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|MT-TA|ENSG00000210127|Transcript|ENST00000387392|Mt_tRNA||||||||||rs1603222496|4125|-1||SNV|HGNC|HGNC:7475|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|MT-TN|ENSG00000210135|Transcript|ENST00000387400|Mt_tRNA||||||||||rs1603222496|4051|-1||SNV|HGNC|HGNC:7493|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|MT-TC|ENSG00000210140|Transcript|ENST00000387405|Mt_tRNA||||||||||rs1603222496|3954|-1||SNV|HGNC|HGNC:7477|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|MT-TY|ENSG00000210144|Transcript|ENST00000387409|Mt_tRNA||||||||||rs1603222496|3889|-1||SNV|HGNC|HGNC:7502|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|MT-TS1|ENSG00000210151|Transcript|ENST00000387416|Mt_tRNA||||||||||rs1603222496|2266|-1||SNV|HGNC|HGNC:7497|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|MT-TD|ENSG00000210154|Transcript|ENST00000387419|Mt_tRNA||||||||||rs1603222496|2195|1||SNV|HGNC|HGNC:7478|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|MT-TK|ENSG00000210156|Transcript|ENST00000387421|Mt_tRNA||||||||||rs1603222496|1416|1||SNV|HGNC|HGNC:7489|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|MT-TG|ENSG00000210164|Transcript|ENST00000387429|Mt_tRNA||||||||||rs1603222496|211|1||SNV|HGNC|HGNC:7486|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|MT-TR|ENSG00000210174|Transcript|ENST00000387439|Mt_tRNA||||||||||rs1603222496|625|1||SNV|HGNC|HGNC:7496|YES|||||||||||||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|MT-TH|ENSG00000210176|Transcript|ENST00000387441|Mt_tRNA||||||||||rs1603222496|2358|1||SNV|HGNC|HGNC:7487|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|MT-TS2|ENSG00000210184|Transcript|ENST00000387449|Mt_tRNA||||||||||rs1603222496|2427|1||SNV|HGNC|HGNC:7498|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|MT-TL2|ENSG00000210191|Transcript|ENST00000387456|Mt_tRNA||||||||||rs1603222496|2486|1||SNV|HGNC|HGNC:7491|YES|||||||||||1||||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|MT-TE|ENSG00000210194|Transcript|ENST00000387459|Mt_tRNA||||||||||rs1603222496|4894|-1||SNV|HGNC|HGNC:7479|YES|||||||||||1|||||||||||||||||||||||||||||||||||||||||||||| GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,2:0.5:3:0,0:0,0:1,1:0,1,1,1 diff --git a/.tests/integration/indel-test/results/indel-test_SE/hla/mhc-I.tsv b/.tests/integration/indel-test/results/indel-test_SE/hla/mhc-I.tsv deleted file mode 100644 index 83364df..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/hla/mhc-I.tsv +++ /dev/null @@ -1,3 +0,0 @@ -custom HLA-A*02:01 -custom HLA-A*68:01 -custom HLA-B*15:07 diff --git a/.tests/integration/indel-test/results/indel-test_SE/quantification/allcounts.txt b/.tests/integration/indel-test/results/indel-test_SE/quantification/allcounts.txt deleted file mode 100644 index 3d9a340..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/quantification/allcounts.txt +++ /dev/null @@ -1,63242 +0,0 @@ -gene_id chrom strand s001 -ENSG00000279928 chr1 + 194.441 -ENSG00000228037 chr1 + 0.0 -ENSG00000142611 chr1 + 0.0 -ENSG00000284616 chr1 - 0.0 -ENSG00000157911 chr1 - 0.0 -ENSG00000260972 chr1 + 0.0 -ENSG00000224340 chr1 - 0.0 -ENSG00000226374 chr1 - 0.0 -ENSG00000229280 chr1 - 0.0 -ENSG00000142655 chr1 + 0.0 -ENSG00000232596 chr1 + 0.0 -ENSG00000235054 chr1 + 0.0 -ENSG00000231510 chr1 - 0.0 -ENSG00000149527 chr1 + 0.0 -ENSG00000284739 chr1 - 0.0 -ENSG00000171621 chr1 + 0.0 -ENSG00000272235 chr1 - 0.0 -ENSG00000284694 chr1 - 0.0 -ENSG00000224387 chr1 - 0.0 -ENSG00000142583 chr1 - 0.0 -ENSG00000284674 chr1 + 0.0 -ENSG00000224338 chr1 - 0.0 -ENSG00000287727 chr1 - 0.0 -ENSG00000286448 chr1 + 0.0 -ENSG00000284703 chr1 - 0.0 -ENSG00000226457 chr1 - 0.0 -ENSG00000173614 chr1 + 0.0 -ENSG00000215720 chr1 - 0.0 -ENSG00000241326 chr1 + 0.0 -ENSG00000233623 chr1 + 0.0 -ENSG00000204624 chr1 + 0.0 -ENSG00000142606 chr1 - 0.0 -ENSG00000225931 chr1 + 0.0 -ENSG00000171729 chr1 + 0.0 -ENSG00000279457 chr1 - 2369.458 -ENSG00000229393 chr1 - 0.0 -ENSG00000037637 chr1 - 0.0 -ENSG00000287586 chr1 - 0.0 -ENSG00000159423 chr1 - 0.0 -ENSG00000227169 chr1 - 0.0 -ENSG00000283356 chr1 + 0.0 -ENSG00000157916 chr1 + 0.0 -ENSG00000157881 chr1 - 0.0 -ENSG00000238290 chr1 + 0.0 -ENSG00000225387 chr1 + 0.0 -ENSG00000048707 chr1 + 0.0 -ENSG00000225196 chr1 - 0.0 -ENSG00000162444 chr1 + 0.0 -ENSG00000279625 chr1 - 0.0 -ENSG00000180758 chr1 - 0.0 -ENSG00000184677 chr1 + 0.0 -ENSG00000288398 chr1 - 0.0 -ENSG00000224621 chr1 + 0.0 -ENSG00000285833 chr1 - 0.0 -ENSG00000131697 chr1 - 0.0 -ENSG00000284692 chr1 - 0.0 -ENSG00000284745 chr1 - 0.0 -ENSG00000280222 chr1 + 0.0 -ENSG00000285945 chr1 + 0.0 -ENSG00000197921 chr1 - 0.0 -ENSG00000233755 chr1 - 0.0 -ENSG00000233929 chr1 - 0.0 -ENSG00000234166 chr1 + 0.0 -ENSG00000235282 chr1 + 0.0 -ENSG00000055070 chr1 + 0.0 -ENSG00000230035 chr1 - 0.0 -ENSG00000225643 chr1 + 0.0 -ENSG00000284666 chr1 - 0.0 -ENSG00000228943 chr1 + 0.0 -ENSG00000234397 chr1 - 0.0 -ENSG00000204138 chr1 + 0.0 -ENSG00000233419 chr1 - 0.0 -ENSG00000235263 chr1 - 0.0 -ENSG00000228176 chr1 - 0.0 -ENSG00000225011 chr1 - 0.0 -ENSG00000235069 chr1 + 0.0 -ENSG00000284676 chr1 + 0.0 -ENSG00000237058 chr1 + 0.0 -ENSG00000090020 chr1 - 0.0 -ENSG00000157978 chr1 + 0.0 -ENSG00000158006 chr1 - 0.0 -ENSG00000214812 chr1 - 0.0 -ENSG00000196581 chr1 + 0.0 -ENSG00000169403 chr1 - 0.0 -ENSG00000171612 chr1 + 0.0 -ENSG00000270927 chr1 - 0.0 -ENSG00000188910 chr1 + 0.0 -ENSG00000230523 chr1 - 0.0 -ENSG00000158161 chr1 - 0.0 -ENSG00000142627 chr1 - 0.0 -ENSG00000284668 chr1 + 0.0 -ENSG00000233234 chr1 - 0.0 -ENSG00000142632 chr1 - 0.0 -ENSG00000234593 chr1 - 0.0 -ENSG00000189337 chr1 + 0.0 -ENSG00000225478 chr1 + 0.0 -ENSG00000028137 chr1 + 0.0 -ENSG00000204464 chr1 - 0.0 -ENSG00000283259 chr1 + 0.0 -ENSG00000130939 chr1 + 0.0 -ENSG00000175147 chr1 - 0.0 -ENSG00000127472 chr1 + 0.0 -ENSG00000060656 chr1 + 0.0 -ENSG00000163867 chr1 - 0.0 -ENSG00000230214 chr1 + 0.0 -ENSG00000189280 chr1 + 0.0 -ENSG00000134698 chr1 + 0.0 -ENSG00000272420 chr1 - 0.0 -ENSG00000132881 chr1 - 0.0 -ENSG00000273274 chr1 + 0.0 -ENSG00000236648 chr1 + 0.0 -ENSG00000232273 chr1 + 0.0 -ENSG00000009709 chr1 + 0.0 -ENSG00000287396 chr1 + 0.0 -ENSG00000130940 chr1 - 0.0 -ENSG00000163879 chr1 + 0.0 -ENSG00000227527 chr1 - 0.0 -ENSG00000116954 chr1 - 0.0 -ENSG00000228589 chr1 - 0.0 -ENSG00000163873 chr1 - 0.0 -ENSG00000117215 chr1 - 0.0 -ENSG00000230163 chr1 + 0.0 -ENSG00000227538 chr1 + 0.0 -ENSG00000044012 chr1 + 0.0 -ENSG00000179051 chr1 - 0.0 -ENSG00000215895 chr1 + 0.0 -ENSG00000284650 chr1 + 0.0 -ENSG00000236948 chr1 - 0.0 -ENSG00000126067 chr1 - 0.0 -ENSG00000274944 chr1 - 0.0 -ENSG00000272078 chr1 + 0.0 -ENSG00000230451 chr1 + 0.0 -ENSG00000231606 chr1 - 0.0 -ENSG00000284632 chr1 - 0.0 -ENSG00000054118 chr1 + 0.0 -ENSG00000254553 chr1 + 0.0 -ENSG00000284653 chr1 + 0.0 -ENSG00000237749 chr1 + 0.0 -ENSG00000276747 chr1 + 0.0 -ENSG00000284705 chr1 + 0.0 -ENSG00000228776 chr1 + 0.0 -ENSG00000159339 chr1 + 0.0 -ENSG00000261781 chr1 + 0.0 -ENSG00000284743 chr1 - 0.0 -ENSG00000158315 chr1 - 0.0 -ENSG00000186973 chr1 + 0.0 -ENSG00000146463 chr1 + 0.0 -ENSG00000271741 chr1 - 0.0 -ENSG00000142686 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-ENSG00000198712 chrMT + 3363.496 -ENSG00000210156 chrMT + 0.0 -ENSG00000228253 chrMT + 0.0 -ENSG00000198899 chrMT + 8868.072 -ENSG00000198938 chrMT + 28244.356 -ENSG00000210164 chrMT + 0.0 -ENSG00000198840 chrMT + 0.0 -ENSG00000210174 chrMT + 0.0 -ENSG00000212907 chrMT + 0.0 -ENSG00000198886 chrMT + 0.0 -ENSG00000210176 chrMT + 0.0 -ENSG00000210184 chrMT + 0.0 -ENSG00000210191 chrMT + 0.0 -ENSG00000198786 chrMT + 0.0 -ENSG00000198695 chrMT - 0.0 -ENSG00000210194 chrMT - 0.0 -ENSG00000198727 chrMT + 0.0 -ENSG00000210195 chrMT + 0.0 -ENSG00000210196 chrMT - 0.0 -ENSG00000274175 KI270728.1 + 0.0 -ENSG00000273554 KI270728.1 - 0.0 -ENSG00000275869 KI270728.1 - 0.0 -ENSG00000278510 KI270728.1 + 0.0 -ENSG00000273843 KI270728.1 + 0.0 -ENSG00000277836 KI270728.1 + 0.0 -ENSG00000278673 KI270727.1 - 0.0 -ENSG00000277890 KI270727.1 + 0.0 -ENSG00000275249 KI270727.1 + 0.0 -ENSG00000274792 KI270727.1 + 0.0 -ENSG00000276872 KI270727.1 + 0.0 -ENSG00000276760 KI270727.1 - 0.0 -ENSG00000277927 KI270727.1 - 0.0 -ENSG00000278457 KI270442.1 + 0.0 -ENSG00000278294 KI270442.1 - 0.0 -ENSG00000276711 GL000225.1 + 0.0 -ENSG00000278704 GL000009.2 - 0.0 -ENSG00000277400 GL000194.1 - 0.0 -ENSG00000274847 GL000194.1 - 0.0 -ENSG00000276932 GL000205.2 - 0.0 -ENSG00000277428 GL000195.1 - 0.0 -ENSG00000276256 GL000195.1 - 0.0 -ENSG00000276312 KI270733.1 + 0.0 -ENSG00000276700 KI270733.1 + 0.0 -ENSG00000275757 KI270733.1 + 0.0 -ENSG00000273739 KI270733.1 + 0.0 -ENSG00000273748 GL000219.1 - 0.0 -ENSG00000274202 GL000216.2 - 0.0 -ENSG00000278625 KI270744.1 - 0.0 -ENSG00000278573 KI270734.1 + 0.0 -ENSG00000277196 KI270734.1 - 0.0 -ENSG00000278817 KI270734.1 + 0.0 -ENSG00000276017 KI270734.1 + 0.0 -ENSG00000277630 GL000213.1 - 0.0 -ENSG00000278793 GL000213.1 - 0.0 -ENSG00000276197 GL000220.1 + 0.0 -ENSG00000274917 GL000220.1 + 0.0 -ENSG00000273730 GL000220.1 + 0.0 -ENSG00000273937 GL000220.1 + 0.0 -ENSG00000278384 GL000218.1 - 0.0 -ENSG00000278633 KI270731.1 - 0.0 -ENSG00000278066 KI270731.1 - 0.0 -ENSG00000277374 KI270750.1 + 0.0 -ENSG00000275661 KI270721.1 + 0.0 -ENSG00000276351 KI270721.1 + 0.0 -ENSG00000276345 KI270721.1 + 0.0 -ENSG00000273532 KI270721.1 + 0.0 -ENSG00000275063 KI270726.1 + 0.0 -ENSG00000277856 KI270726.1 + 0.0 -ENSG00000271254 KI270711.1 - 0.0 -ENSG00000275987 KI270713.1 - 0.0 -ENSG00000268674 KI270713.1 + 0.0 -ENSG00000277475 KI270713.1 - 0.0 -ENSG00000275405 KI270713.1 - 0.0 diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/align/s001_aligned_STAR.bam b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/align/s001_aligned_STAR.bam deleted file mode 100644 index c792c85..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/align/s001_aligned_STAR.bam and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/align/s001_aligned_STAR.log b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/align/s001_aligned_STAR.log deleted file mode 100644 index bd2da2d..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/align/s001_aligned_STAR.log +++ /dev/null @@ -1,243 +0,0 @@ -STAR version=2.7.10b -STAR compilation time,server,dir=2023-05-25T06:56:23+0000 :/opt/conda/conda-bld/star_1684997536154/work/source -##### Command Line: -/projects/b1171/sej9799/ScanNeo2_test/ScanNeo2/.snakemake/conda/0150de37a3177d0c2c6c45145fe8dbd9_/bin/STAR-avx2 --runThreadN 30 --genomeDir resources/refs/star --readFilesIn results/indel-test_SE/rnaseq/reads/s001_preproc.fq.gz --readFilesCommand gunzip -c --outSAMtype BAM Unsorted --genomeSAindexNbases 10 --outSAMattributes RG HI --outSAMattrRGline ID:s001 --outFilterMultimapNmax 50 --peOverlapNbasesMin 15 --alignSplicedMateMapLminOverLmate 0.5 --alignSJstitchMismatchNmax 5 -1 5 5 --chimOutType WithinBAM HardClip --chimSegmentMin 20 --chimJunctionOverhangMin 10 --chimScoreDropMax 30 --chimScoreMin 10 --chimScoreJunctionNonGTAG 0 --chimScoreSeparation 10 --chimSegmentReadGapMax 3 --chimMultimapNmax 50 --outSAMstrandField intronMotif --outTmpDir /tmp/tmpscdn76ni/STARtmp --outFileNamePrefix /tmp/tmpscdn76ni/ --outStd BAM_Unsorted -##### Initial USER parameters from Command Line: -outFileNamePrefix /tmp/tmpscdn76ni/ -outTmpDir /tmp/tmpscdn76ni/STARtmp -outStd BAM_Unsorted -###### All USER parameters from Command Line: -runThreadN 30 ~RE-DEFINED -genomeDir resources/refs/star ~RE-DEFINED -readFilesIn results/indel-test_SE/rnaseq/reads/s001_preproc.fq.gz ~RE-DEFINED -readFilesCommand gunzip -c ~RE-DEFINED -outSAMtype BAM Unsorted ~RE-DEFINED -genomeSAindexNbases 10 ~RE-DEFINED -outSAMattributes RG HI ~RE-DEFINED -outSAMattrRGline ID:s001 ~RE-DEFINED -outFilterMultimapNmax 50 ~RE-DEFINED -peOverlapNbasesMin 15 ~RE-DEFINED -alignSplicedMateMapLminOverLmate0.5 ~RE-DEFINED -alignSJstitchMismatchNmax 5 -1 5 5 ~RE-DEFINED -chimOutType WithinBAM HardClip ~RE-DEFINED -chimSegmentMin 20 ~RE-DEFINED -chimJunctionOverhangMin 10 ~RE-DEFINED -chimScoreDropMax 30 ~RE-DEFINED -chimScoreMin 10 ~RE-DEFINED -chimScoreJunctionNonGTAG 0 ~RE-DEFINED -chimScoreSeparation 10 ~RE-DEFINED -chimSegmentReadGapMax 3 ~RE-DEFINED -chimMultimapNmax 50 ~RE-DEFINED -outSAMstrandField intronMotif ~RE-DEFINED -outTmpDir /tmp/tmpscdn76ni/STARtmp ~RE-DEFINED -outFileNamePrefix /tmp/tmpscdn76ni/ ~RE-DEFINED -outStd BAM_Unsorted ~RE-DEFINED -##### Finished reading parameters from all sources - -##### Final user re-defined parameters-----------------: -runThreadN 30 -genomeDir resources/refs/star -genomeSAindexNbases 10 -readFilesIn results/indel-test_SE/rnaseq/reads/s001_preproc.fq.gz -readFilesCommand gunzip -c -outFileNamePrefix /tmp/tmpscdn76ni/ -outTmpDir /tmp/tmpscdn76ni/STARtmp -outStd BAM_Unsorted -outSAMtype BAM Unsorted -outSAMstrandField intronMotif -outSAMattributes RG HI -outSAMattrRGline ID:s001 -outFilterMultimapNmax 50 -alignSJstitchMismatchNmax 5 -1 5 5 -alignSplicedMateMapLminOverLmate 0.5 -peOverlapNbasesMin 15 -chimSegmentMin 20 -chimScoreMin 10 -chimScoreDropMax 30 -chimScoreSeparation 10 -chimScoreJunctionNonGTAG 0 -chimJunctionOverhangMin 10 -chimOutType WithinBAM HardClip -chimSegmentReadGapMax 3 -chimMultimapNmax 50 - -------------------------------- -##### Final effective command line: -/projects/b1171/sej9799/ScanNeo2_test/ScanNeo2/.snakemake/conda/0150de37a3177d0c2c6c45145fe8dbd9_/bin/STAR-avx2 --runThreadN 30 --genomeDir resources/refs/star --genomeSAindexNbases 10 --readFilesIn results/indel-test_SE/rnaseq/reads/s001_preproc.fq.gz --readFilesCommand gunzip -c --outFileNamePrefix /tmp/tmpscdn76ni/ --outTmpDir /tmp/tmpscdn76ni/STARtmp --outStd BAM_Unsorted --outSAMtype BAM Unsorted --outSAMstrandField intronMotif --outSAMattributes RG HI --outSAMattrRGline ID:s001 --outFilterMultimapNmax 50 --alignSJstitchMismatchNmax 5 -1 5 5 --alignSplicedMateMapLminOverLmate 0.5 --peOverlapNbasesMin 15 --chimSegmentMin 20 --chimScoreMin 10 --chimScoreDropMax 30 --chimScoreSeparation 10 --chimScoreJunctionNonGTAG 0 --chimJunctionOverhangMin 10 --chimOutType WithinBAM HardClip --chimSegmentReadGapMax 3 --chimMultimapNmax 50 ----------------------------------------- - -Number of fastq files for each mate = 1 - - Input read files for mate 1 : --rw-rw-r-- 1 sej9799 b1171 1969121 May 18 03:27 results/indel-test_SE/rnaseq/reads/s001_preproc.fq.gz - - readsCommandsFile: -exec > "/tmp/tmpscdn76ni/STARtmp/tmp.fifo.read1" -echo FILE 0 -gunzip -c "results/indel-test_SE/rnaseq/reads/s001_preproc.fq.gz" - -WARNING --outSAMstrandField=intronMotif, therefore STAR will output XS attribute -ParametersSolo: --soloCellFilterType CellRanger2.2 filtering parameters: 3000 0.99 10 -Finished loading and checking parameters -Reading genome generation parameters: -### /projects/b1171/sej9799/ScanNeo2_test/ScanNeo2/.snakemake/conda/0150de37a3177d0c2c6c45145fe8dbd9_/bin/STAR-avx2 --runMode genomeGenerate --runThreadN 30 --genomeDir resources/refs/star --genomeFastaFiles resources/refs/genome.fasta --genomeSAindexNbases 5 --outTmpDir /tmp/tmpzv2e1if1/STARtmp -### GstrandBit=32 -versionGenome 2.7.4a ~RE-DEFINED -genomeType Full ~RE-DEFINED -genomeFastaFiles resources/refs/genome.fasta ~RE-DEFINED -genomeSAindexNbases 5 ~RE-DEFINED -genomeChrBinNbits 18 ~RE-DEFINED -genomeSAsparseD 1 ~RE-DEFINED -genomeTransformType None ~RE-DEFINED -genomeTransformVCF - ~RE-DEFINED -sjdbOverhang 0 ~RE-DEFINED -sjdbFileChrStartEnd - ~RE-DEFINED -sjdbGTFfile - ~RE-DEFINED -sjdbGTFchrPrefix - ~RE-DEFINED -sjdbGTFfeatureExon exon ~RE-DEFINED -sjdbGTFtagExonParentTranscripttranscript_id ~RE-DEFINED -sjdbGTFtagExonParentGene gene_id ~RE-DEFINED -sjdbInsertSave Basic ~RE-DEFINED -genomeFileSizes 3091464192 24235659372 ~RE-DEFINED -Genome version is compatible with current STAR -Number of real (reference) chromosomes= 25 -1 chr1 248956422 0 -2 chr10 133797422 249036800 -3 chr11 135086622 382992384 -4 chr12 133275309 518258688 -5 chr13 114364328 651689984 -6 chr14 107043718 766246912 -7 chr15 101991189 873463808 -8 chr16 90338345 975699968 -9 chr17 83257441 1066139648 -10 chr18 80373285 1149501440 -11 chr19 58617616 1229979648 -12 chr2 242193529 1288699904 -13 chr20 64444167 1530920960 -14 chr21 46709983 1595408384 -15 chr22 50818468 1642332160 -16 chr3 198295559 1693188096 -17 chr4 190214555 1891631104 -18 chr5 181538259 2081947648 -19 chr6 170805979 2263613440 -20 chr7 159345973 2434531328 -21 chr8 145138636 2593914880 -22 chr9 138394717 2739142656 -23 chrMT 16569 2877554688 -24 chrX 156040895 2877816832 -25 chrY 57227415 3034054656 -Started loading the genome: Sat May 18 03:27:01 2024 - -Genome: size given as a parameter = 3091464192 -SA: size given as a parameter = 24235659372 -SAindex: size given as a parameter = 1 -Read from SAindex: pGe.gSAindexNbases=5 nSAi=1364 -nGenome=3091464192; nSAbyte=24235659372 -GstrandBit=32 SA number of indices=5875311362 -Shared memory is not used for genomes. Allocated a private copy of the genome. -Genome file size: 3091464192 bytes; state: good=1 eof=0 fail=0 bad=0 -Loading Genome ... done! state: good=1 eof=0 fail=0 bad=0; loaded 3091464192 bytes -SA file size: 24235659372 bytes; state: good=1 eof=0 fail=0 bad=0 -Loading SA ... done! state: good=1 eof=0 fail=0 bad=0; loaded 24235659372 bytes -Loading SAindex ... done: 6027 bytes -Finished loading the genome: Sat May 18 03:27:13 2024 - -alignIntronMax=alignMatesGapMax=0, the max intron size will be approximately determined by (2^winBinNbits)*winAnchorDistNbins=589824 -WARNING --chimOutType=WithinBAM, therefore STAR will output NM attribute -Created thread # 1 -Created thread # 2 -Created thread # 3 -Starting to map file # 0 -mate 1: results/indel-test_SE/rnaseq/reads/s001_preproc.fq.gz -Created thread # 4 -Created thread # 5 -Created thread # 6 -Created thread # 7 -Created thread # 8 -Created thread # 9 -Created thread # 10 -Created thread # 11 -Created thread # 12 -Created thread # 13 -Created thread # 14 -Created thread # 15 -Created thread # 16 -Created thread # 17 -Created thread # 18 -Created thread # 19 -Created thread # 20 -Created thread # 21 -Created thread # 22 -Created thread # 23 -Created thread # 24 -Created thread # 25 -Created thread # 26 -Created thread # 27 -Created thread # 28 -Created thread # 29 -Thread #1 end of input stream, nextChar=-1 -Completed: thread #2 -Completed: thread #5 -Completed: thread #4 -Completed: thread #10 -Completed: thread #11 -Completed: thread #14 -Completed: thread #15 -Completed: thread #8 -Completed: thread #19 -Completed: thread #20 -Completed: thread #3 -Completed: thread #6 -Completed: thread #24 -Completed: thread #25 -Completed: thread #26 -Completed: thread #27 -Completed: thread #28 -Completed: thread #18 -Completed: thread #9 -Completed: thread #21 -Completed: thread #22 -Completed: thread #12 -Completed: thread #23 -Completed: thread #13 -Completed: thread #7 -Completed: thread #16 -Completed: thread #17 -Completed: thread #0 -Completed: thread #29 -Completed: thread #1 -Joined thread # 1 -Joined thread # 2 -Joined thread # 3 -Joined thread # 4 -Joined thread # 5 -Joined thread # 6 -Joined thread # 7 -Joined thread # 8 -Joined thread # 9 -Joined thread # 10 -Joined thread # 11 -Joined thread # 12 -Joined thread # 13 -Joined thread # 14 -Joined thread # 15 -Joined thread # 16 -Joined thread # 17 -Joined thread # 18 -Joined thread # 19 -Joined thread # 20 -Joined thread # 21 -Joined thread # 22 -Joined thread # 23 -Joined thread # 24 -Joined thread # 25 -Joined thread # 26 -Joined thread # 27 -Joined thread # 28 -Joined thread # 29 -May 18 03:27:18 ..... finished mapping -RAM after mapping: -VmPeak: 32890680 kB; VmSize: 32796612 kB; VmHWM: 31085712 kB; VmRSS: 31080312 kB; -RAM after freeing genome index memory: -VmPeak: 32890680 kB; VmSize: 6109960 kB; VmHWM: 31085712 kB; VmRSS: 4393660 kB; -ALL DONE! diff --git 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G A 423.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=1.004;DP=34;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=41.43;MQRankSum=-0.266;QD=13.67;ReadPosRankSum=-0.919;SOR=0.602 GT:AD:DP:GQ:PL 0/1:19,12:31:99:431,0,674 -chr8 213370 . C G 41.32 . AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=22;QD=20.66;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:53,6,0 -chr8 213387 . C T 41.32 . AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=22;QD=20.66;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:53,6,0 -chr8 213438 . C T 41.32 . AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=22;QD=20.66;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:53,6,0 -chr2 130229486 . G A 346.04 . AC=2;AF=1;AN=2;DP=8;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=27.19;QD=25.36;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,8:8:24:360,24,0 -chr2 130229492 . G A 419.06 . AC=2;AF=1;AN=2;DP=12;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=25.03;QD=28.73;SOR=1.27 GT:AD:DP:GQ:PL 1/1:0,11:11:33:433,33,0 -chr2 130229520 . G A 455.06 . AC=2;AF=1;AN=2;DP=17;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=24.31;QD=26.77;SOR=1.371 GT:AD:DP:GQ:PL 1/1:0,17:17:51:469,51,0 -chr2 130229579 . T C 581.06 . AC=2;AF=1;AN=2;DP=25;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=23.21;QD=25.26;SOR=0.963 GT:AD:DP:GQ:PL 1/1:0,23:23:69:595,69,0 -chr2 130229607 . G C 211.05 . AC=2;AF=1;AN=2;DP=18;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=21.13;QD=23.45;SOR=2.093 GT:AD:DP:GQ:PL 1/1:0,9:9:27:225,27,0 -chr2 130229647 . A T 328.05 . AC=2;AF=1;AN=2;DP=10;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=45.56;QD=30.97;SOR=0.892 GT:AD:DP:GQ:PL 1/1:0,9:9:27:342,27,0 -chr2 130229689 . A G 532.06 . AC=2;AF=1;AN=2;DP=13;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=46.97;QD=27.24;SOR=0.836 GT:AD:DP:GQ:PL 1/1:0,13:13:39:546,39,0 -chr2 130229709 . T G 529.06 . AC=2;AF=1;AN=2;DP=13;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=46.97;QD=28.2;SOR=0.836 GT:AD:DP:GQ:PL 1/1:0,13:13:39:543,39,0 -chr2 130229735 . T G 550.06 . AC=2;AF=1;AN=2;DP=13;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=46.97;QD=25;SOR=0.836 GT:AD:DP:GQ:PL 1/1:0,13:13:39:564,39,0 -chr2 130229747 . A G 706.06 . AC=2;AF=1;AN=2;DP=16;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=44;QD=29.56;SOR=0.941 GT:AD:DP:GQ:PL 1/1:0,16:16:48:720,48,0 -chr2 130229753 . G A 782.06 . AC=2;AF=1;AN=2;DP=18;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=45.51;QD=30.62;SOR=0.914 GT:AD:DP:GQ:PL 1/1:0,18:18:54:796,54,0 -chr2 130229756 . G A 782.06 . AC=2;AF=1;AN=2;DP=18;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=45.51;QD=28.17;SOR=0.914 GT:AD:DP:GQ:PL 1/1:0,18:18:54:796,54,0 -chr2 130229803 . G C 637.06 . AC=2;AF=1;AN=2;DP=18;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=44.68;QD=26.8;SOR=0.941 GT:AD:DP:GQ:PL 1/1:0,16:16:48:651,48,0 -chr2 130229817 . C G 860.06 . AC=2;AF=1;AN=2;DP=22;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=44.59;QD=26;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,22:22:66:874,66,0 -chr2 130229920 . A G 935.06 . AC=2;AF=1;AN=2;DP=28;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=41.53;QD=30.02;SOR=0.859 GT:AD:DP:GQ:PL 1/1:0,24:24:72:949,72,0 -chr2 130229974 . T C 78.32 . AC=2;AF=1;AN=2;DP=5;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=35.32;QD=31.98;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr2 130229975 . G A 78.32 . AC=2;AF=1;AN=2;DP=5;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=35.32;QD=27.51;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr2 130230633 . T C 311.04 . AC=2;AF=1;AN=2;DP=8;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.11;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,8:8:24:325,24,0 -chr2 130230668 . T C 583.06 . AC=2;AF=1;AN=2;DP=15;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=49.87;QD=28.08;SOR=0.818 GT:AD:DP:GQ:PL 1/1:0,15:15:45:597,45,0 -chr2 130230679 . G A 517.06 . AC=2;AF=1;AN=2;DP=15;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=49.87;QD=34.47;SOR=0.818 GT:AD:DP:GQ:PL 1/1:0,15:15:44:531,44,0 -chr2 130230727 . A G 583.06 . AC=2;AF=1;AN=2;DP=15;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=49.87;QD=23.23;SOR=0.818 GT:AD:DP:GQ:PL 1/1:0,15:15:45:597,45,0 -chr2 130230790 . A G 81.84 . AC=2;AF=1;AN=2;DP=7;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=34.87;QD=27.28;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,3:3:9:95,9,0 -chr2 130230924 . A G 39.32 . AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=21;QD=19.66;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:51,6,0 -chr2 130231008 . C T 39.32 . AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=21;QD=19.66;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:51,6,0 -chr2 130231176 . C G 282.04 . AC=2;AF=1;AN=2;DP=10;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=35.14;QD=29.03;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,8:8:24:296,24,0 -chr2 130231189 . T G 462.06 . AC=2;AF=1;AN=2;DP=13;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=38.54;QD=30.67;SOR=1.022 GT:AD:DP:GQ:PL 1/1:0,12:12:36:476,36,0 -chr2 130231202 . C A 613.06 . AC=2;AF=1;AN=2;DP=16;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=38.5;QD=26.61;SOR=1.244 GT:AD:DP:GQ:PL 1/1:0,16:16:48:627,48,0 -chr2 130231206 . C T 47.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=-1.093;DP=16;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=38.5;MQRankSum=-1.499;QD=2.98;ReadPosRankSum=1.148;SOR=0.693 GT:AD:DP:GQ:PL 0/1:13,3:16:55:55,0,449 -chr2 130231240 . A G 603.06 . AC=2;AF=1;AN=2;DP=16;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=38.5;QD=29.2;SOR=1.244 GT:AD:DP:GQ:PL 1/1:0,16:16:48:617,48,0 -chr2 130231320 . G A 125.14 . AC=2;AF=1;AN=2;DP=7;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=42.12;QD=31.29;SOR=1.609 GT:AD:DP:GQ:PL 1/1:0,4:4:12:139,12,0 -chr2 131442793 . T C 121.84 . AC=2;AF=1;AN=2;DP=3;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=51.08;QD=28.55;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 -chr2 131442797 . C G 121.84 . AC=2;AF=1;AN=2;DP=3;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=51.08;QD=34.42;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 -chr2 131442810 . C T 121.84 . AC=2;AF=1;AN=2;DP=3;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=51.08;QD=28.53;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 -chr2 131442829 . C T 121.84 . AC=2;AF=1;AN=2;DP=3;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=51.08;QD=27.23;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 -chr2 131442842 . T C 121.84 . AC=2;AF=1;AN=2;DP=3;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=51.08;QD=29.52;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 -chr2 131442846 . A G 121.84 . AC=2;AF=1;AN=2;DP=3;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=51.08;QD=33.47;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 -chr2 131443009 . A G 117.14 . AC=2;AF=1;AN=2;DP=5;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=27.82;QD=29.29;SOR=1.609 GT:AD:DP:GQ:PL 1/1:0,4:4:12:131,12,0 -chr2 131443024 . A G 185.97 . AC=2;AF=1;AN=2;DP=9;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=35.78;QD=31;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,6:6:18:200,18,0 -chr2 131443048 . G A 42.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=0.282;DP=9;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=35.78;MQRankSum=0;QD=4.74;ReadPosRankSum=0.14;SOR=0.223 GT:AD:DP:GQ:PL 0/1:7,2:9:50:50,0,220 -chr2 131443052 . G T 323.05 . AC=2;AF=1;AN=2;DP=9;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=35.78;QD=32.91;SOR=1.402 GT:AD:DP:GQ:PL 1/1:0,9:9:27:337,27,0 -chr2 131443065 . A C 309.05 . AC=2;AF=1;AN=2;DP=9;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=35.78;QD=34.34;SOR=1.402 GT:AD:DP:GQ:PL 1/1:0,9:9:27:323,27,0 -chr2 131443078 . G C 309.05 . AC=2;AF=1;AN=2;DP=9;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=35.78;QD=34.34;SOR=1.402 GT:AD:DP:GQ:PL 1/1:0,9:9:27:323,27,0 -chr2 131443100 . G C 309.05 . AC=2;AF=1;AN=2;DP=9;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=35.78;QD=34.34;SOR=1.402 GT:AD:DP:GQ:PL 1/1:0,9:9:27:323,27,0 -chr2 131443144 . G A 210.96 . AC=2;AF=1;AN=2;DP=5;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=40.94;QD=31.31;SOR=3.611 GT:AD:DP:GQ:PL 1/1:0,5:5:15:225,15,0 -chr2 131443146 . T G 210.96 . AC=2;AF=1;AN=2;DP=5;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=40.94;QD=31.45;SOR=3.611 GT:AD:DP:GQ:PL 1/1:0,5:5:15:225,15,0 -chr2 131443797 . C G 78.32 . AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=47;QD=33.27;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr2 131443801 . G A 78.32 . AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=47;QD=31.26;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr2 131443807 . G A 78.32 . AC=2;AF=1;AN=2;DP=4;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=49.04;QD=27.76;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr2 131443869 . A G 240.02 . AC=2;AF=1;AN=2;DP=7;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=39.32;QD=34.29;SOR=0.941 GT:AD:DP:GQ:PL 1/1:0,7:7:21:254,21,0 -chr2 131443961 . G A 661.06 . AC=2;AF=1;AN=2;DP=15;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=35.1;QD=29.09;SOR=1.112 GT:AD:DP:GQ:PL 1/1:0,15:15:45:675,45,0 -chr2 131443973 . T A 661.06 . AC=2;AF=1;AN=2;DP=15;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=35.1;QD=26.08;SOR=1.112 GT:AD:DP:GQ:PL 1/1:0,15:15:45:675,45,0 -chr2 131444000 . A G 526.06 . AC=2;AF=1;AN=2;DP=12;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=37.95;QD=33.85;SOR=1.022 GT:AD:DP:GQ:PL 1/1:0,12:12:36:540,36,0 -chr2 131444009 . A G 526.06 . AC=2;AF=1;AN=2;DP=12;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=37.95;QD=27.08;SOR=1.022 GT:AD:DP:GQ:PL 1/1:0,12:12:36:540,36,0 -chr2 131444045 . T C 283.02 . AC=2;AF=1;AN=2;DP=7;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=35.07;QD=25.42;SOR=0.941 GT:AD:DP:GQ:PL 1/1:0,7:7:21:297,21,0 -chr2 131444062 . A G 210.96 . AC=2;AF=1;AN=2;DP=5;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=35.61;QD=27.65;SOR=1.981 GT:AD:DP:GQ:PL 1/1:0,5:5:15:225,15,0 -chr2 131444082 . A G 78.32 . AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=38;QD=29.48;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 190768 . G A 41.32 . AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=22;QD=20.66;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:53,6,0 -chr1 778034 . GAA G 64.60 VQSRTrancheBOTH99.90to100.00 AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=52.75;MQRankSum=1.383;NEGATIVE_TRAIN_SITE;QD=16.15;ReadPosRankSum=-1.383;SOR=0.693;VQSLOD=-6.758e+01;culprit=MQRankSum GT:AD:DP:GQ:PL 0/1:2,2:4:72:72,0,78 -chr1 778051 . T C 64.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=0.524;DP=5;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=52.75;MQRankSum=-0.674;QD=12.93;ReadPosRankSum=0.674;SOR=0.368 GT:AD:DP:GQ:PL 0/1:3,2:5:72:72,0,101 -chr1 778082 . T C 73.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=0.967;DP=3;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=47.3;MQRankSum=0.967;QD=24.55;ReadPosRankSum=-0.967;SOR=0.223 GT:AD:DP:GQ:PL 0/1:1,2:3:36:81,0,36 -chr1 778083 . T C 73.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=47.3;MQRankSum=0.967;QD=24.55;ReadPosRankSum=-0.967;SOR=0.223 GT:AD:DP:GQ:PL 0/1:1,2:3:36:81,0,36 -chr1 778906 . G T 77.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=-0.524;DP=5;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=34.16;MQRankSum=-1.645;QD=15.53;ReadPosRankSum=-1.645;SOR=1.179 GT:AD:DP:GQ:PL 0/1:2,3:5:71:85,0,71 -chr1 778984 . G A 56.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=-0.431;DP=3;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=31.35;MQRankSum=0.967;QD=18.88;ReadPosRankSum=0.967;SOR=0.223 GT:AD:DP:GQ:PL 0/1:1,2:3:26:64,0,26 -chr1 779196 . G T 52.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=0.253;DP=10;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=52.76;MQRankSum=1.501;QD=5.26;ReadPosRankSum=-0.967;SOR=0.693 GT:AD:DP:GQ:PL 0/1:8,2:10:60:60,0,291 -chr1 779968 . T G 421.06 . AC=2;AF=1;AN=2;DP=13;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=43.95;QD=25.36;SOR=0.859 GT:AD:DP:GQ:PL 1/1:0,11:11:33:435,33,0 -chr1 781047 . C T 31.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=22.69;MQRankSum=1.834;QD=5.27;ReadPosRankSum=-0.842;SOR=0.693 GT:AD:DP:GQ:PL 0/1:4,2:6:39:39,0,89 -chr1 783175 . T C 105.84 . AC=2;AF=1;AN=2;DP=3;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=38.09;QD=28.73;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,3:3:9:119,9,0 -chr1 794299 . C G 66.32 . AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=34;QD=33.16;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:78,6,0 -chr1 797585 . G T 60.32 . AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=31;QD=30.16;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:72,6,0 -chr1 817186 . G A 378.06 . AC=2;AF=1;AN=2;DP=12;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=53.45;QD=34.37;SOR=0.859 GT:AD:DP:GQ:PL 1/1:0,11:11:32:392,32,0 -chr1 817233 . CA C 33.60 VQSRTrancheBOTH99.90to100.00 AC=1;AF=0.5;AN=2;BaseQRankSum=0.728;DP=11;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=53.94;MQRankSum=-2.287;NEGATIVE_TRAIN_SITE;QD=3.36;ReadPosRankSum=-0.493;SOR=0.368;VQSLOD=-3.673e+01;culprit=MQRankSum GT:AD:DP:GQ:PL 0/1:8,2:10:41:41,0,255 -chr1 817257 . T C 231.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=2.128;DP=10;ExcessHet=0;FS=2.808;MLEAC=1;MLEAF=0.5;MQ=53.29;MQRankSum=1.016;QD=23.16;ReadPosRankSum=-0.405;SOR=1.108 GT:AD:DP:GQ:PL 0/1:4,6:10:99:239,0,113 -chr1 817341 . A G,AG 416.06 PASS AC=1,1;AF=0.5,0.5;AN=2;DP=11;ExcessHet=0;FS=0;MLEAC=1,1;MLEAF=0.5,0.5;MQ=60;QD=30.97;SOR=0.859;VQSLOD=1.12;culprit=DP GT:AD:DP:GQ:PL 1/2:0,9,2:11:34:433,61,34,303,0,274 -chr1 818094 . C G 84.84 . AC=2;AF=1;AN=2;DP=3;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=28;QD=28.28;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,3:3:9:98,9,0 -chr1 818802 . A G 255.97 . AC=2;AF=1;AN=2;DP=6;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=43.82;QD=27.24;SOR=1.329 GT:AD:DP:GQ:PL 1/1:0,6:6:18:270,18,0 -chr1 818812 . A G 255.97 . AC=2;AF=1;AN=2;DP=6;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=43.82;QD=28.2;SOR=1.329 GT:AD:DP:GQ:PL 1/1:0,6:6:18:270,18,0 -chr1 818954 . T C 102.84 . AC=2;AF=1;AN=2;DP=3;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=40.98;QD=34.28;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,3:3:9:116,9,0 -chr1 819123 . G A 244.97 . AC=2;AF=1;AN=2;DP=6;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=55.43;QD=25;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,6:6:18:259,18,0 -chr1 819584 . C T 39.32 . AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=21;QD=19.66;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:51,6,0 -chr1 820395 . A G 78.32 . AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=29.56;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 822354 . C T 57.32 . AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=28.66;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:69,6,0 -chr1 822764 . A G 75.32 . AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=30.62;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:87,6,0 -chr1 822944 . T C 78.32 . AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=28.17;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 823246 . C T 78.32 . AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=26.8;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 825767 . T C 163.14 . AC=2;AF=1;AN=2;DP=4;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=44.02;QD=26;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,4:4:12:177,12,0 -chr1 837375 . A C 74.32 . AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=38;QD=30.02;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:86,6,0 -chr1 839183 . GA G 36.60 VQSRTrancheBOTH99.90to100.00 AC=1;AF=0.5;AN=2;BaseQRankSum=0.253;DP=6;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=23.36;MQRankSum=-1.501;NEGATIVE_TRAIN_SITE;QD=6.1;ReadPosRankSum=0;SOR=0.223;VQSLOD=-4.521e+01;culprit=MQRankSum GT:AD:DP:GQ:PL 0/1:4,2:6:44:44,0,103 -chr1 839356 . A C 67.32 . AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=36.78;QD=33.66;SOR=2.303 GT:AD:DP:GQ:PL 1/1:0,2:2:6:79,6,0 -chr1 841742 . A T 745.06 . AC=2;AF=1;AN=2;DP=26;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=33.86;QD=33.87;SOR=0.874 GT:AD:DP:GQ:PL 1/1:0,22:22:66:759,66,0 -chr1 842922 . C CCT 333 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=34.36;NEGATIVE_TRAIN_SITE;QD=31.98;SOR=0.693;VQSLOD=-6.600e+00;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,8:8:24:347,24,0 -chr1 843189 . A G 768.06 . AC=2;AF=1;AN=2;DP=25;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=30.41;QD=32;SOR=0.859 GT:AD:DP:GQ:PL 1/1:0,24:24:72:782,72,0 -chr1 844647 . G T 333.04 . AC=2;AF=1;AN=2;DP=8;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=47.72;QD=27.51;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,8:8:24:347,24,0 -chr1 845405 . T A 316.04 . AC=2;AF=1;AN=2;DP=8;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=54.22;QD=29.11;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,8:8:24:330,24,0 -chr1 849670 . G A 194.96 . AC=2;AF=1;AN=2;DP=5;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=46.79;QD=28.08;SOR=1.022 GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 -chr1 851882 . C G 140.14 . AC=2;AF=1;AN=2;DP=4;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=46.7;QD=23.23;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,4:4:12:154,12,0 -chr1 852019 . G T 809.66 . AC=1;AF=0.5;AN=2;BaseQRankSum=2.234;DP=24;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=49.04;MQRankSum=-1.428;QD=29.03;ReadPosRankSum=-0.492;SOR=0.99 GT:AD:DP:GQ:PL 0/1:2,21:23:13:817,0,13 -chr1 852305 . G T 39.32 . AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=21;QD=19.66;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:51,6,0 -chr1 853565 . G C 78.32 . AC=2;AF=1;AN=2;DP=3;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=23.98;QD=30.67;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 853572 . G A 78.32 . AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=24.91;QD=26.61;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 855378 . GTA G 121.80 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=49.76;QD=29.2;SOR=1.179;VQSLOD=0.383;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 -chr1 856883 . A G 220.05 . AC=2;AF=1;AN=2;DP=11;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=26.7;QD=24.45;SOR=0.892 GT:AD:DP:GQ:PL 1/1:0,9:9:27:234,27,0 -chr1 857100 . C T 397.06 . AC=2;AF=1;AN=2;DP=16;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=22.09;QD=24.82;SOR=0.941 GT:AD:DP:GQ:PL 1/1:0,16:16:48:411,48,0 -chr1 897018 . T C 67.32 . AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=47.12;QD=33.66;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:79,6,0 -chr1 901763 . A G 70.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.66;ReadPosRankSum=-1.383;SOR=0.693 GT:AD:DP:GQ:PL 0/1:2,2:4:78:78,0,78 -chr1 902641 . C T 75.32 . AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=28.55;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:87,6,0 -chr1 902949 . G GC 53.28 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=26.64;SOR=0.693;VQSLOD=0.096;culprit=QD GT:AD:DP:GQ:PL 1/1:0,2:2:6:65,6,0 -chr1 903007 . T C 78.32 . AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=34.42;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 904947 . G A 145.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=9;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.18;ReadPosRankSum=-0.531;SOR=0.446 GT:AD:DP:GQ:PL 0/1:5,4:9:99:153,0,198 -chr1 905705 . C G 181.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=0.998;DP=13;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.14;ReadPosRankSum=0.227;SOR=0.76 GT:AD:DP:GQ:PL 0/1:7,5:12:99:189,0,267 -chr1 906633 . T G 121.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=0.908;DP=13;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.06;ReadPosRankSum=0.176;SOR=0.495 GT:AD:DP:GQ:PL 0/1:7,4:11:99:129,0,266 -chr1 906982 . C T 688.06 . AC=2;AF=1;AN=2;DP=17;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.53;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,16:16:48:702,48,0 -chr1 907022 . C A 322.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=-0.755;DP=16;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.16;ReadPosRankSum=0.568;SOR=0.732 GT:AD:DP:GQ:PL 0/1:7,9:16:99:330,0,264 -chr1 907236 . TAAA T 78.28 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=27.23;SOR=0.693;VQSLOD=0.382;culprit=QD GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 907445 . A G 78.32 . AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=29.52;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 908025 . A G 187.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=1.242;DP=9;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.85;ReadPosRankSum=-0.475;SOR=1.022 GT:AD:DP:GQ:PL 0/1:4,5:9:99:195,0,126 -chr1 908285 . A G 58.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=0.619;DP=8;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.33;ReadPosRankSum=-2.1;SOR=0.307 GT:AD:DP:GQ:PL 0/1:6,2:8:66:66,0,239 -chr1 909894 . G T 132.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=-0.842;DP=6;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.11;ReadPosRankSum=1.834;SOR=0.693 GT:AD:DP:GQ:PL 0/1:2,4:6:72:140,0,72 -chr1 909903 . G T 255.97 . AC=2;AF=1;AN=2;DP=6;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.47;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,6:6:18:270,18,0 -chr1 910255 . C T 174.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=-0.712;DP=7;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.95;ReadPosRankSum=-0.566;SOR=1.022 GT:AD:DP:GQ:PL 0/1:2,5:7:69:182,0,69 -chr1 910462 . G A 49.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=0.447;DP=12;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.51;ReadPosRankSum=0.66;SOR=0.527 GT:AD:DP:GQ:PL 0/1:9,2:11:57:57,0,360 -chr1 910558 . G A 193.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=0.151;DP=17;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=-0.453;SOR=0.551 GT:AD:DP:GQ:PL 0/1:11,6:17:99:201,0,406 -chr1 910698 . C T 106.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=0.566;DP=7;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.23;ReadPosRankSum=-0.144;SOR=1.179 GT:AD:DP:GQ:PL 0/1:4,3:7:99:114,0,156 -chr1 910958 . A G 480.06 . AC=2;AF=1;AN=2;DP=11;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.91;SOR=1.27 GT:AD:DP:GQ:PL 1/1:0,11:11:33:494,33,0 -chr1 911018 . G A 352.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=-2.213;DP=18;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.59;ReadPosRankSum=-1.089;SOR=0.627 GT:AD:DP:GQ:PL 0/1:7,11:18:99:360,0,261 -chr1 911109 . T C 773.06 . AC=2;AF=1;AN=2;DP=19;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.31;SOR=0.914 GT:AD:DP:GQ:PL 1/1:0,18:18:54:787,54,0 -chr1 911220 . CT C 398.02 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.45;SOR=0.859;VQSLOD=0.080;culprit=DP GT:AD:DP:GQ:PL 1/1:0,11:11:33:412,33,0 -chr1 911848 . C T 52.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=0.253;DP=10;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.26;ReadPosRankSum=-1.501;SOR=0.693 GT:AD:DP:GQ:PL 0/1:8,2:10:60:60,0,327 -chr1 911870 . G A 606.06 . AC=2;AF=1;AN=2;DP=14;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.27;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,14:14:42:620,42,0 -chr1 912111 . G A 61.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=-0.967;DP=7;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.27;ReadPosRankSum=-1.834;SOR=0.693 GT:AD:DP:GQ:PL 0/1:4,2:6:69:69,0,162 -chr1 912710 . G A 109.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=0.253;DP=6;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.93;ReadPosRankSum=-0.674;SOR=1.179 GT:AD:DP:GQ:PL 0/1:2,3:5:72:117,0,72 -chr1 913065 . G A 130.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=-1.111;DP=11;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=0.418;SOR=0.693 GT:AD:DP:GQ:PL 0/1:6,4:10:99:138,0,237 -chr1 913076 . A G 255.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=-0.615;DP=13;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.66;ReadPosRankSum=0.004;SOR=0.941 GT:AD:DP:GQ:PL 0/1:6,7:13:99:263,0,231 -chr1 913086 . C T 40.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=-1.098;DP=13;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.13;ReadPosRankSum=-0.496;SOR=0.551 GT:AD:DP:GQ:PL 0/1:11,2:13:48:48,0,448 -chr1 913274 . TG T 170.60 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.616;DP=12;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=0.628;SOR=0.307;VQSLOD=4.78;culprit=ReadPosRankSum GT:AD:DP:GQ:PL 0/1:6,6:12:99:178,0,177 -chr1 913337 . C T 34.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=-0.728;DP=16;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.31;ReadPosRankSum=-0.426;SOR=0.569 GT:AD:DP:GQ:PL 0/1:13,2:15:42:42,0,515 -chr1 913358 . C T 211.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=-0.158;DP=14;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.28;ReadPosRankSum=0.98;SOR=0.495 GT:AD:DP:GQ:PL 0/1:7,6:13:99:219,0,264 -chr1 913870 . CCG C 52.60 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.493;DP=13;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.26;ReadPosRankSum=1.221;SOR=0.693;VQSLOD=5.77;culprit=QD GT:AD:DP:GQ:PL 0/1:8,2:10:60:60,0,330 -chr1 914618 . A G 383.05 . AC=2;AF=1;AN=2;DP=10;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.26;SOR=0.892 GT:AD:DP:GQ:PL 1/1:0,9:9:27:397,27,0 -chr1 915810 . G A 394.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=-0.428;DP=16;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.66;ReadPosRankSum=2.013;SOR=1.085 GT:AD:DP:GQ:PL 0/1:6,10:16:99:402,0,222 -chr1 915824 . G C 534.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=-0.967;DP=20;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=26.73;ReadPosRankSum=0.537;SOR=0.693 GT:AD:DP:GQ:PL 0/1:6,14:20:99:542,0,210 -chr1 916119 . A G 207.96 . AC=2;AF=1;AN=2;DP=5;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.76;SOR=1.981 GT:AD:DP:GQ:PL 1/1:0,5:5:15:222,15,0 -chr1 916377 . A G 166.14 . AC=2;AF=1;AN=2;DP=4;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.09;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,4:4:12:180,12,0 -chr1 916657 . G A 519.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=-0.709;DP=18;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=30.57;ReadPosRankSum=1.759;SOR=0.836 GT:AD:DP:GQ:PL 0/1:4,13:17:99:527,0,126 -chr1 916683 . G A 349.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=1.068;DP=16;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.31;ReadPosRankSum=0.806;SOR=0.892 GT:AD:DP:GQ:PL 0/1:6,9:15:99:357,0,210 -chr1 916753 . C T 518.06 . AC=2;AF=1;AN=2;DP=12;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.08;SOR=1.022 GT:AD:DP:GQ:PL 1/1:0,12:12:36:532,36,0 -chr1 917284 . C T 162.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=-1.335;DP=11;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.79;ReadPosRankSum=2.042;SOR=1.022 GT:AD:DP:GQ:PL 0/1:6,5:11:99:170,0,237 -chr1 917378 . G C 160.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=1.167;DP=19;ExcessHet=0;FS=2.199;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.45;ReadPosRankSum=-0.697;SOR=1.565 GT:AD:DP:GQ:PL 0/1:14,5:19:99:168,0,531 -chr1 917495 . C T 504.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=-1.573;DP=22;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.94;ReadPosRankSum=-0.445;SOR=0.976 GT:AD:DP:GQ:PL 0/1:8,14:22:99:512,0,294 -chr1 917584 . T G 571.06 . AC=2;AF=1;AN=2;DP=13;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.85;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,13:13:39:585,39,0 -chr1 917859 . A G 166.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=-2;DP=12;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.89;ReadPosRankSum=-1.363;SOR=0.76 GT:AD:DP:GQ:PL 0/1:7,5:12:99:174,0,279 -chr1 918443 . C A 154.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=1.834;DP=7;ExcessHet=0;FS=3.31;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=25.77;ReadPosRankSum=-1.834;SOR=0.105 GT:AD:DP:GQ:PL 0/1:2,4:6:65:162,0,65 -chr1 918574 . C A 176.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=-0.921;DP=8;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.08;ReadPosRankSum=-0.135;SOR=0.582 GT:AD:DP:GQ:PL 0/1:3,5:8:99:184,0,111 -chr1 918870 . A G 148.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=0.674;DP=8;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.58;ReadPosRankSum=-1.133;SOR=0.693 GT:AD:DP:GQ:PL 0/1:4,4:8:99:156,0,153 -chr1 918888 . T C 53.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=-0.18;DP=9;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.66;ReadPosRankSum=1.18;SOR=0.446 GT:AD:DP:GQ:PL 0/1:5,2:7:61:61,0,186 -chr1 919297 . A T 42.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=-0.674;DP=9;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.74;ReadPosRankSum=2.1;SOR=0.307 GT:AD:DP:GQ:PL 0/1:7,2:9:50:50,0,275 -chr1 919397 . A G 483.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=-0.451;DP=14;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=34.55;ReadPosRankSum=1.562;SOR=0.693 GT:AD:DP:GQ:PL 0/1:2,12:14:48:491,0,48 -chr1 919598 . A C 295.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=1.627;DP=19;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.56;ReadPosRankSum=-1.626;SOR=0.551 GT:AD:DP:GQ:PL 0/1:11,8:19:99:303,0,418 -chr1 919695 . C G 99.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=-0.792;DP=8;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.23;ReadPosRankSum=0.697;SOR=0.446 GT:AD:DP:GQ:PL 0/1:4,3:7:99:107,0,159 -chr1 920719 . T G 253.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=-0.166;DP=18;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.09;ReadPosRankSum=1.361;SOR=0.765 GT:AD:DP:GQ:PL 0/1:11,7:18:99:261,0,441 -chr1 920728 . A G 253.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=-0.907;DP=18;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.09;ReadPosRankSum=1.361;SOR=0.765 GT:AD:DP:GQ:PL 0/1:11,7:18:99:261,0,441 -chr1 921056 . TG T 40.60 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.06;DP=7;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.8;ReadPosRankSum=0.876;SOR=0.446;VQSLOD=4.78;culprit=FS GT:AD:DP:GQ:PL 0/1:5,2:7:48:48,0,146 -chr1 921096 . A G 101.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=0.385;DP=6;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.94;ReadPosRankSum=1.036;SOR=0.693 GT:AD:DP:GQ:PL 0/1:3,3:6:99:109,0,104 -chr1 922226 . C T 61.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.81;ReadPosRankSum=0;SOR=0.446 GT:AD:DP:GQ:PL 0/1:5,2:7:69:69,0,204 -chr1 922348 . T G 360.67 . AC=1;AF=0.5;AN=2;BaseQRankSum=1.036;DP=10;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=27.08;ReadPosRankSum=-1.645;SOR=0.525 GT:AD:DP:GQ:PL 0/1:1,9:10:12:368,0,12 -chr1 922660 . C A 100.84 . AC=2;AF=1;AN=2;DP=3;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=33.61;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,3:3:9:114,9,0 -chr1 922671 . C T 121.84 . AC=2;AF=1;AN=2;DP=3;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=25.42;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 -chr1 924024 . C G 301.02 . AC=2;AF=1;AN=2;DP=7;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.65;SOR=0.941 GT:AD:DP:GQ:PL 1/1:0,7:7:21:315,21,0 -chr1 924305 . G A 103.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=10;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=2.369;SOR=1.034 GT:AD:DP:GQ:PL 0/1:5,3:8:99:111,0,201 -chr1 924310 . C G 391.05 . AC=2;AF=1;AN=2;DP=9;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.48;SOR=0.892 GT:AD:DP:GQ:PL 1/1:0,9:9:27:405,27,0 -chr1 924314 . C A 100.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=12;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.18;ReadPosRankSum=2.515;SOR=1.179 GT:AD:DP:GQ:PL 0/1:6,3:9:99:108,0,243 -chr1 924321 . C G 551.06 . AC=2;AF=1;AN=2;DP=15;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.56;SOR=0.836 GT:AD:DP:GQ:PL 1/1:0,13:13:39:565,39,0 -chr1 924533 . A G 1081.06 . AC=2;AF=1;AN=2;DP=25;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.63;SOR=0.941 GT:AD:DP:GQ:PL 1/1:0,25:25:75:1095,75,0 -chr1 925036 . G A 112.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=0.842;DP=6;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.53;ReadPosRankSum=-1.036;SOR=1.179 GT:AD:DP:GQ:PL 0/1:2,3:5:66:120,0,66 -chr1 925081 . G A 110.84 . AC=2;AF=1;AN=2;DP=3;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=30.55;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,3:3:9:124,9,0 -chr1 925628 . G C 166.14 . AC=2;AF=1;AN=2;DP=4;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.62;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,4:4:12:180,12,0 -chr1 926250 . G A 238.65 . AC=1;AF=0.5;AN=2;BaseQRankSum=1.465;DP=7;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=34.09;ReadPosRankSum=1.465;SOR=0.223 GT:AD:DP:GQ:PL 0/1:1,6:7:15:246,0,15 -chr1 926428 . A G 346.04 . AC=2;AF=1;AN=2;DP=10;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.33;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,8:8:24:360,24,0 -chr1 926713 . T C 121.84 . AC=2;AF=1;AN=2;DP=3;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=35.36;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 -chr1 926744 . A G 78.32 . AC=2;AF=1;AN=2;DP=4;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=34.3;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 927003 . C T 121.84 . AC=2;AF=1;AN=2;DP=3;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=27;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 -chr1 927009 . A G 121.84 . AC=2;AF=1;AN=2;DP=3;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=30.82;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 -chr1 927443 . C T 55.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=9;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.18;ReadPosRankSum=-0.812;SOR=0.495 GT:AD:DP:GQ:PL 0/1:7,2:9:63:63,0,288 -chr1 927486 . C T 129.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=-0.623;DP=14;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=-0.006;SOR=0.307 GT:AD:DP:GQ:PL 0/1:6,4:10:99:137,0,237 -chr1 927744 . G T 475.06 . AC=2;AF=1;AN=2;DP=11;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.27;SOR=0.859 GT:AD:DP:GQ:PL 1/1:0,11:11:33:489,33,0 -chr1 928622 . G C 113.84 . AC=2;AF=1;AN=2;DP=3;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=35.92;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,3:3:9:127,9,0 -chr1 929346 . T A 121.84 . AC=2;AF=1;AN=2;DP=4;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=29.63;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 -chr1 929375 . A G 121.84 . AC=2;AF=1;AN=2;DP=3;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=28.76;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 -chr1 929377 . G A 121.84 . AC=2;AF=1;AN=2;DP=3;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=29.94;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 -chr1 930939 . G A 78.32 . AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=31.54;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 931513 . T C 70.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=-0.431;DP=3;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.55;ReadPosRankSum=-0.967;SOR=0.223 GT:AD:DP:GQ:PL 0/1:1,2:3:36:78,0,36 -chr1 931540 . A G 160.14 . AC=2;AF=1;AN=2;DP=4;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.86;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,4:4:12:174,12,0 -chr1 931558 . G A 101.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.94;ReadPosRankSum=-0.598;SOR=0.693 GT:AD:DP:GQ:PL 0/1:3,3:6:99:109,0,108 -chr1 932255 . C T 100.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=-1.036;DP=5;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.13;ReadPosRankSum=1.036;SOR=1.179 GT:AD:DP:GQ:PL 0/1:2,3:5:69:108,0,69 -chr1 932512 . G A 73.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=0.967;DP=3;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.55;ReadPosRankSum=0.967;SOR=0.223 GT:AD:DP:GQ:PL 0/1:1,2:3:33:81,0,33 -chr1 932613 . GTTTC G 78.28 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=29.41;SOR=0.693;VQSLOD=0.133;culprit=SOR GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 933511 . A G 78.32 . AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=31.11;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 933548 . A AG 50.28 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=25.14;SOR=0.693;VQSLOD=-5.474e-01;culprit=QD GT:AD:DP:GQ:PL 1/1:0,2:2:6:62,6,0 -chr1 936972 . G C 166.14 . AC=2;AF=1;AN=2;DP=4;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.66;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,4:4:12:180,12,0 -chr1 938222 . G A 75.32 . AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=29.4;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:87,6,0 -chr1 939038 . A C 78.32 . AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=36.76;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 939864 . G A 56.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=-0.967;DP=6;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.44;ReadPosRankSum=0;SOR=0.693 GT:AD:DP:GQ:PL 0/1:4,2:6:64:64,0,162 -chr1 941119 . A G 72.32 . AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=30.54;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 -chr1 941767 . G A 133.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=-0.967;DP=12;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=0.327;SOR=0.693 GT:AD:DP:GQ:PL 0/1:8,4:12:99:141,0,324 -chr1 942335 . C G 78.32 . AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=21.53;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 942451 . T C 210.96 . AC=2;AF=1;AN=2;DP=5;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.87;SOR=1.981 GT:AD:DP:GQ:PL 1/1:0,5:5:15:225,15,0 -chr1 944296 . G A 4387.06 . AC=2;AF=1;AN=2;BaseQRankSum=3.17;DP=106;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=57.31;MQRankSum=-0.984;QD=31.04;ReadPosRankSum=-2.403;SOR=0.836 GT:AD:DP:GQ:PL 1/1:2,103:105:99:4401,249,0 -chr1 944307 . T C 4626.06 . AC=2;AF=1;AN=2;DP=107;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=57.33;QD=27.86;SOR=0.77 GT:AD:DP:GQ:PL 1/1:0,106:106:99:4640,319,0 -chr1 944858 . A G 166.14 . AC=2;AF=1;AN=2;DP=4;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.17;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,4:4:12:180,12,0 -chr1 945259 . TC T 52.60 VQSRTrancheBOTH99.90to100.00 AC=1;AF=0.5;AN=2;BaseQRankSum=-1.645;DP=5;ExcessHet=0;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;NEGATIVE_TRAIN_SITE;QD=10.52;ReadPosRankSum=-1.282;SOR=2.245;VQSLOD=-2.200e+01;culprit=SOR GT:AD:DP:GQ:PL 0/1:3,2:5:60:60,0,97 -chr1 945827 . A T 52.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=0.493;DP=10;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.26;ReadPosRankSum=-2.287;SOR=0.368 GT:AD:DP:GQ:PL 0/1:8,2:10:60:60,0,308 -chr1 946247 . G A 61.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=49.02;MQRankSum=-0.967;QD=10.27;ReadPosRankSum=-1.834;SOR=0.693 GT:AD:DP:GQ:PL 0/1:4,2:6:69:69,0,146 -chr1 946538 . G A 44.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=52.35;MQRankSum=-1.834;QD=7.44;ReadPosRankSum=-1.834;SOR=0.693 GT:AD:DP:GQ:PL 0/1:4,2:6:52:52,0,162 -chr1 947371 . T C 64.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=0.431;DP=6;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.77;ReadPosRankSum=-1.834;SOR=0.223 GT:AD:DP:GQ:PL 0/1:4,2:6:72:72,0,159 -chr1 947423 . A G 343.04 . AC=2;AF=1;AN=2;DP=9;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.6;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,8:8:24:357,24,0 -chr1 948711 . C G 210.96 . AC=2;AF=1;AN=2;DP=5;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.57;SOR=1.022 GT:AD:DP:GQ:PL 1/1:0,5:5:15:225,15,0 -chr1 949171 . GAGAA G 112.60 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.524;DP=7;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.52;ReadPosRankSum=-1.645;SOR=1.179;VQSLOD=4.43;culprit=DP GT:AD:DP:GQ:PL 0/1:2,3:5:75:120,0,75 -chr1 949435 . A G 166.14 . AC=2;AF=1;AN=2;DP=4;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.11;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,4:4:12:180,12,0 -chr1 949628 . C A 51.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=-0.524;DP=6;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.61;ReadPosRankSum=0.524;SOR=0.693 GT:AD:DP:GQ:PL 0/1:4,2:6:59:59,0,155 -chr1 950319 . A G 78.32 . AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=30.2;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 952421 . A G 121.84 . AC=2;AF=1;AN=2;DP=8;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=47.77;QD=30.49;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 -chr1 953259 . T C 196.97 . AC=2;AF=1;AN=2;DP=6;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=49.79;QD=32.83;SOR=1.329 GT:AD:DP:GQ:PL 1/1:0,6:6:18:211,18,0 -chr1 953279 . T C 186.96 . AC=2;AF=1;AN=2;DP=5;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=47.48;QD=31.67;SOR=1.981 GT:AD:DP:GQ:PL 1/1:0,5:5:15:201,15,0 -chr1 953778 . G C 78.32 . AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=29.53;SOR=2.303 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 953779 . A C 78.32 . AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=32.63;SOR=2.303 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 954258 . G C 463.06 . AC=2;AF=1;AN=2;DP=12;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.36;SOR=0.859 GT:AD:DP:GQ:PL 1/1:0,11:11:33:477,33,0 -chr1 954333 . C A 652.06 . AC=2;AF=1;AN=2;DP=17;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.13;SOR=0.941 GT:AD:DP:GQ:PL 1/1:0,16:16:48:666,48,0 -chr1 954574 . A G 166.14 . AC=2;AF=1;AN=2;DP=4;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.97;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,4:4:12:180,12,0 -chr1 954827 . GA G 52.80 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=17.6;SOR=1.179;VQSLOD=0.329;culprit=QD GT:AD:DP:GQ:PL 1/1:0,3:3:9:66,9,0 -chr1 955384 . C T 37.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=0.588;DP=17;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.51;ReadPosRankSum=1.96;SOR=0.569 GT:AD:DP:GQ:PL 0/1:13,2:15:45:45,0,537 -chr1 955641 . G A 266.02 . AC=2;AF=1;AN=2;DP=8;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.31;SOR=0.941 GT:AD:DP:GQ:PL 1/1:0,7:7:21:280,21,0 -chr1 955679 . C T 112.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.53;ReadPosRankSum=1.645;SOR=1.179 GT:AD:DP:GQ:PL 0/1:2,3:5:75:120,0,75 -chr1 956565 . A G 154.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=0.967;DP=6;ExcessHet=0;FS=3.31;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=25.77;ReadPosRankSum=0;SOR=0.105 GT:AD:DP:GQ:PL 0/1:2,4:6:62:162,0,62 -chr1 957365 . G A 501.06 . AC=2;AF=1;AN=2;DP=12;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.21;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,12:12:36:515,36,0 -chr1 957900 . G A 471.06 . AC=2;AF=1;AN=2;DP=13;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.18;SOR=0.859 GT:AD:DP:GQ:PL 1/1:0,11:11:33:485,33,0 -chr1 959193 . G A 121.84 . AC=2;AF=1;AN=2;DP=3;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=29.59;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 -chr1 960891 . C T 121.84 . AC=2;AF=1;AN=2;DP=3;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=32.25;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 -chr1 961096 . A G 274.02 . AC=2;AF=1;AN=2;DP=8;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.86;SOR=0.941 GT:AD:DP:GQ:PL 1/1:0,7:7:21:288,21,0 -chr1 961945 . G C 1100.06 . AC=2;AF=1;AN=2;DP=26;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.49;SOR=0.941 GT:AD:DP:GQ:PL 1/1:0,25:25:75:1114,75,0 -chr1 962001 . T A 37.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=-1.198;DP=14;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.69;ReadPosRankSum=1.923;SOR=0.446 GT:AD:DP:GQ:PL 0/1:12,2:14:45:45,0,490 -chr1 962184 . T C 335.04 . AC=2;AF=1;AN=2;DP=10;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.05;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,8:8:24:349,24,0 -chr1 962943 . T C 78.32 . AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=31.88;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 964218 . C G 49.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=-0.842;DP=5;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.93;ReadPosRankSum=0.524;SOR=0.368 GT:AD:DP:GQ:PL 0/1:3,2:5:57:57,0,120 -chr1 965125 . G C 645.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=-0.623;DP=30;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.52;ReadPosRankSum=-0.168;SOR=0.665 GT:AD:DP:GQ:PL 0/1:13,17:30:99:653,0,478 -chr1 965337 . CTTAT C 598.60 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.423;DP=24;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=26.03;ReadPosRankSum=0.876;SOR=0.818;VQSLOD=6.29;culprit=QD GT:AD:DP:GQ:PL 0/1:8,15:23:99:606,0,270 -chr1 965350 . G A 965.06 . AC=2;AF=1;AN=2;DP=23;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.31;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,22:22:66:979,66,0 -chr1 965592 . T G 918.06 . AC=2;AF=1;AN=2;DP=24;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.84;SOR=0.784 GT:AD:DP:GQ:PL 1/1:0,21:21:63:932,63,0 -chr1 965643 . T C 918.06 . AC=2;AF=1;AN=2;DP=21;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.8;SOR=0.784 GT:AD:DP:GQ:PL 1/1:0,21:21:63:932,63,0 -chr1 965666 . ACC A 250.60 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.266;DP=20;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.19;ReadPosRankSum=-1.229;SOR=0.941;VQSLOD=5.09;culprit=ReadPosRankSum GT:AD:DP:GQ:PL 0/1:12,7:19:99:258,0,482 -chr1 966179 . G A 75.32 . AC=2;AF=1;AN=2;DP=4;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=29.95;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:87,6,0 -chr1 966227 . C G 166.14 . AC=2;AF=1;AN=2;DP=4;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.22;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,4:4:12:180,12,0 -chr1 966272 . A G 166.14 . AC=2;AF=1;AN=2;DP=4;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.85;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,4:4:12:180,12,0 -chr1 966665 . T C 78.32 . AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=31.18;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 966770 . C T 70.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.66;ReadPosRankSum=1.383;SOR=0.693 GT:AD:DP:GQ:PL 0/1:2,2:4:78:78,0,78 -chr1 967376 . AC A 166.10 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.65;SOR=1.609;VQSLOD=0.035;culprit=SOR GT:AD:DP:GQ:PL 1/1:0,4:4:12:180,12,0 -chr1 967384 . C G 166.14 . AC=2;AF=1;AN=2;DP=4;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.44;SOR=1.609 GT:AD:DP:GQ:PL 1/1:0,4:4:12:180,12,0 -chr1 968841 . T C 70.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.66;ReadPosRankSum=1.383;SOR=0.693 GT:AD:DP:GQ:PL 0/1:2,2:4:78:78,0,78 -chr1 969377 . A ATG 193.92 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.95;SOR=1.022;VQSLOD=-1.379e-01;culprit=QD GT:AD:DP:GQ:PL 1/1:0,5:5:15:208,15,0 -chr1 969663 . CAT C 78.28 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=33.53;SOR=0.693;VQSLOD=0.132;culprit=QD GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 970005 . G A 52.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=-0.674;DP=4;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=53.11;MQRankSum=0.674;QD=13.16;ReadPosRankSum=-1.383;SOR=0.105 GT:AD:DP:GQ:PL 0/1:2,2:4:60:60,0,60 -chr1 970874 . C G 62.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=-0.967;DP=3;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.88;ReadPosRankSum=-0.967;SOR=0.223 GT:AD:DP:GQ:PL 0/1:1,2:3:36:70,0,36 -chr1 971513 . G A 62.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=-0.967;DP=3;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.88;ReadPosRankSum=-0.967;SOR=0.223 GT:AD:DP:GQ:PL 0/1:1,2:3:36:70,0,36 -chr1 973929 . T C 70.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.66;ReadPosRankSum=0;SOR=0.693 GT:AD:DP:GQ:PL 0/1:2,2:4:78:78,0,78 -chr1 974388 . A G 75.32 . AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=36.33;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:87,6,0 -chr1 975447 . T C 65.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=-0.48;DP=9;ExcessHet=0;FS=2.808;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.29;ReadPosRankSum=2.1;SOR=0.959 GT:AD:DP:GQ:PL 0/1:6,3:9:73:73,0,232 -chr1 975492 . GCT G 55.60 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.469;DP=9;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.18;ReadPosRankSum=-0.282;SOR=0.495;VQSLOD=4.60;culprit=QD GT:AD:DP:GQ:PL 0/1:7,2:9:63:63,0,288 -chr1 975523 . T C 184.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=1.097;DP=11;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.79;ReadPosRankSum=-1.647;SOR=1.022 GT:AD:DP:GQ:PL 0/1:6,5:11:99:192,0,225 -chr1 976215 . A G 205.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=0.95;DP=20;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=0.047;SOR=0.446 GT:AD:DP:GQ:PL 0/1:12,6:18:99:213,0,451 -chr1 997238 . C G 75.32 . AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=32.31;SOR=2.303 GT:AD:DP:GQ:PL 1/1:0,2:2:6:87,6,0 -chr1 997987 . G A 57.32 . AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=28.66;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:69,6,0 -chr1 998935 . CA C 48.60 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.72;ReadPosRankSum=1.645;SOR=0.368;VQSLOD=5.13;culprit=QD GT:AD:DP:GQ:PL 0/1:3,2:5:56:56,0,92 -chr1 999005 . G A 1722.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=-1.144;DP=108;ExcessHet=0;FS=2.549;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.1;ReadPosRankSum=2.266;SOR=0.991 GT:AD:DP:GQ:PL 0/1:61,46:107:99:1730,0,2390 -chr1 999842 . C A 1435.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=0.635;DP=52;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=30.55;ReadPosRankSum=-0.162;SOR=0.614 GT:AD:DP:GQ:PL 0/1:9,38:47:99:1443,0,191 -chr1 1000079 . A G 3879.06 . AC=2;AF=1;AN=2;DP=90;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.29;SOR=0.887 GT:AD:DP:GQ:PL 1/1:0,88:88:99:3893,265,0 -chr1 1000112 . G T 740.06 . AC=2;AF=1;AN=2;DP=29;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.05;SOR=0.914 GT:AD:DP:GQ:PL 1/1:0,18:18:54:754,54,0 -chr1 1000335 . C T 501.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=-1.859;DP=29;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.92;ReadPosRankSum=-1.474;SOR=0.976 GT:AD:DP:GQ:PL 0/1:14,14:28:99:509,0,542 -chr1 1000453 . C G 1393.06 . AC=2;AF=1;AN=2;BaseQRankSum=3.36;DP=37;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=33.3;ReadPosRankSum=-2.311;SOR=1.022 GT:AD:DP:GQ:PL 1/1:2,33:35:54:1407,54,0 -chr1 1000731 . C T 957.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=-1.267;DP=51;ExcessHet=0;FS=1.082;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.78;ReadPosRankSum=0.217;SOR=0.481 GT:AD:DP:GQ:PL 0/1:24,27:51:99:965,0,913 -chr1 1000814 . A G 1479.06 . AC=2;AF=1;AN=2;DP=34;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.74;SOR=1.085 GT:AD:DP:GQ:PL 1/1:0,34:34:99:1493,102,0 -chr1 1000830 . C A 668.06 . AC=2;AF=1;AN=2;DP=18;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.66;SOR=0.941 GT:AD:DP:GQ:PL 1/1:0,16:16:48:682,48,0 -chr1 1001107 . C G 78.32 . AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=25.41;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 1002308 . T C 78.32 . AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=28.5;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 1009083 . A G 70.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.66;ReadPosRankSum=-1.383;SOR=0.693 GT:AD:DP:GQ:PL 0/1:2,2:4:78:78,0,78 -chr1 1012158 . C T 189.96 . AC=2;AF=1;AN=2;DP=5;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.19;SOR=1.022 GT:AD:DP:GQ:PL 1/1:0,5:5:15:204,15,0 -chr1 1012809 . T C 78.32 . AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=30.73;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 1012810 . T C 78.32 . AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=26.72;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 1013312 . G A 118.84 . AC=2;AF=1;AN=2;DP=4;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=24.84;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,3:3:9:132,9,0 -chr1 1013466 . T TA 166.10 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.31;SOR=1.609;VQSLOD=-6.701e-01;culprit=QD GT:AD:DP:GQ:PL 1/1:0,4:4:12:180,12,0 -chr1 1013490 . C G 174.96 . AC=2;AF=1;AN=2;DP=5;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.99;SOR=1.022 GT:AD:DP:GQ:PL 1/1:0,5:5:15:189,15,0 -chr1 1013541 . T C 2147.06 . AC=2;AF=1;AN=2;DP=53;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.86;SOR=4.493 GT:AD:DP:GQ:PL 1/1:0,50:50:99:2161,150,0 -chr1 1013855 . G A 376.05 . AC=2;AF=1;AN=2;DP=11;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.73;SOR=0.892 GT:AD:DP:GQ:PL 1/1:0,9:9:27:390,27,0 -chr1 1014228 . G A 2184.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=-2.064;DP=366;ExcessHet=0;FS=1.003;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.33;ReadPosRankSum=0.404;SOR=0.762 GT:AD:DP:GQ:PL 0/1:271,74:345:99:2192,0,10936 -chr1 1014274 . A G 13015.10 . AC=2;AF=1;AN=2;DP=303;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.05;SOR=0.727 GT:AD:DP:GQ:PL 1/1:0,295:295:99:13029,887,0 -chr1 1014545 . C T 155.14 . AC=2;AF=1;AN=2;DP=4;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.64;SOR=1.609 GT:AD:DP:GQ:PL 1/1:0,4:4:12:169,12,0 -chr1 1019636 . A G 78.32 . AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=29.35;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 1019833 . T C 78.32 . AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=29.21;SOR=2.303 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 1020217 . G T 1545.06 . AC=2;AF=1;AN=2;DP=36;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.06;SOR=0.804 GT:AD:DP:GQ:PL 1/1:0,36:36:99:1559,108,0 -chr1 1021740 . G C 255.97 . AC=2;AF=1;AN=2;DP=6;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.08;SOR=1.329 GT:AD:DP:GQ:PL 1/1:0,6:6:18:270,18,0 -chr1 1026830 . A G 75.32 . AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=24.8;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:87,6,0 -chr1 1031917 . C A 78.32 . AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=26.1;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 1035987 . T C 118.84 . AC=2;AF=1;AN=2;DP=3;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=29.15;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,3:3:9:132,9,0 -chr1 1036754 . C T 75.32 . AC=2;AF=1;AN=2;DP=3;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=31.87;SOR=2.303 GT:AD:DP:GQ:PL 1/1:0,2:2:6:87,6,0 -chr1 1037505 . A G 55.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=0.549;DP=9;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.18;ReadPosRankSum=-0.282;SOR=0.223 GT:AD:DP:GQ:PL 0/1:7,2:9:63:63,0,266 -chr1 1037956 . A G 247.97 . AC=2;AF=1;AN=2;DP=6;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.57;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,6:6:18:262,18,0 -chr1 1037997 . G A 301.02 . AC=2;AF=1;AN=2;DP=7;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.34;SOR=0.941 GT:AD:DP:GQ:PL 1/1:0,7:7:21:315,21,0 -chr1 1038078 . C T 210.96 . AC=2;AF=1;AN=2;DP=5;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.58;SOR=1.022 GT:AD:DP:GQ:PL 1/1:0,5:5:15:225,15,0 -chr1 1038288 . A G 189.96 . AC=2;AF=1;AN=2;DP=5;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.42;SOR=1.981 GT:AD:DP:GQ:PL 1/1:0,5:5:15:204,15,0 -chr1 1038762 . T C 41.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=-1.139;DP=11;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.79;ReadPosRankSum=2.362;SOR=0.527 GT:AD:DP:GQ:PL 0/1:9,2:11:49:49,0,365 -chr1 1038800 . G T 328.04 . AC=2;AF=1;AN=2;DP=9;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.87;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,8:8:24:342,24,0 -chr1 1038819 . C T 326.04 . AC=2;AF=1;AN=2;DP=8;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.49;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,8:8:24:340,24,0 -chr1 1038845 . A G 255.97 . AC=2;AF=1;AN=2;DP=6;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.64;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,6:6:18:270,18,0 -chr1 1038916 . A G 78.32 . AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=31.89;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 1039114 . G T 210.96 . AC=2;AF=1;AN=2;DP=5;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=39.16;SOR=1.022 GT:AD:DP:GQ:PL 1/1:0,5:5:15:225,15,0 -chr1 1039411 . T TG,TGG 231.02 PASS AC=1,1;AF=0.5,0.5;AN=2;DP=8;ExcessHet=0;FS=0;MLEAC=1,1;MLEAF=0.5,0.5;MQ=60;QD=28.88;SOR=0.693;VQSLOD=0.639;culprit=DP GT:AD:DP:GQ:PL 1/2:0,4,4:8:90:248,113,90,103,0,91 -chr1 1039514 . C T 78.32 . AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=27.54;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 1039753 . T A 75.32 . AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=30.82;SOR=2.303 GT:AD:DP:GQ:PL 1/1:0,2:2:6:87,6,0 -chr1 1040322 . A G 78.32 . AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=31.57;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 1041492 . G A 526.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=-0.9;DP=18;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=29.26;ReadPosRankSum=-1.968;SOR=0.693 GT:AD:DP:GQ:PL 0/1:4,14:18:99:534,0,126 -chr1 1041950 . T C 72.32 . AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=28.62;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 -chr1 1042190 . G A 78.32 . AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=26.65;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 1042767 . AG A 58.60 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.559;DP=9;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.51;ReadPosRankSum=-1.51;SOR=0.593;VQSLOD=4.90;culprit=ReadPosRankSum GT:AD:DP:GQ:PL 0/1:6,3:9:66:66,0,160 -chr1 1043295 . G A 31.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=0.784;DP=17;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.86;ReadPosRankSum=0.821;SOR=0.582 GT:AD:DP:GQ:PL 0/1:15,2:17:39:39,0,577 -chr1 1044368 . A T 34.32 . AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=17.16;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:46,6,0 -chr1 1045707 . A G 78.32 . AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=31.15;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 1046551 . A G 276.02 . AC=2;AF=1;AN=2;DP=12;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.71;SOR=0.941 GT:AD:DP:GQ:PL 1/1:0,7:7:21:290,21,0 -chr1 1047064 . A G 446.06 . AC=2;AF=1;AN=2;DP=11;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.24;SOR=0.859 GT:AD:DP:GQ:PL 1/1:0,11:11:33:460,33,0 -chr1 1047082 . T C 220.97 . AC=2;AF=1;AN=2;DP=10;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.78;SOR=1.329 GT:AD:DP:GQ:PL 1/1:0,6:6:18:235,18,0 -chr1 1047133 . T C 163.14 . AC=2;AF=1;AN=2;DP=4;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.89;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,4:4:12:177,12,0 -chr1 1047233 . T C 58.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=0.319;DP=8;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.33;ReadPosRankSum=-1.242;SOR=0.693 GT:AD:DP:GQ:PL 0/1:6,2:8:66:66,0,233 -chr1 1047614 . T C 78.32 . AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=32.85;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 1048912 . C T 34.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=0.69;DP=16;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.16;ReadPosRankSum=1.037;SOR=0.693 GT:AD:DP:GQ:PL 0/1:14,2:16:42:42,0,570 -chr1 1052857 . ATG A 71.28 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=35.74;SOR=0.693;VQSLOD=0.377;culprit=QD GT:AD:DP:GQ:PL 1/1:0,2:2:6:83,6,0 -chr1 1054866 . C G 43.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=-2.012;DP=12;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.64;ReadPosRankSum=0.974;SOR=0.412 GT:AD:DP:GQ:PL 0/1:10,2:12:51:51,0,414 -chr1 1055000 . C T 1365.06 . AC=2;AF=1;AN=2;DP=33;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.18;SOR=0.756 GT:AD:DP:GQ:PL 1/1:0,31:31:93:1379,93,0 -chr1 1055037 . T C 1111.06 . AC=2;AF=1;AN=2;DP=30;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.65;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,26:26:78:1125,78,0 -chr1 1055137 . C T 1337.06 . AC=2;AF=1;AN=2;DP=34;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.04;SOR=1.022 GT:AD:DP:GQ:PL 1/1:0,33:33:98:1351,98,0 -chr1 1055393 . C T 1208.06 . AC=2;AF=1;AN=2;DP=31;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.07;SOR=0.976 GT:AD:DP:GQ:PL 1/1:0,30:30:89:1222,89,0 -chr1 1055426 . G A 1002.06 . AC=2;AF=1;AN=2;DP=28;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.19;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,24:24:72:1016,72,0 -chr1 1055604 . G A 2574.06 . AC=2;AF=1;AN=2;DP=65;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.72;SOR=0.793 GT:AD:DP:GQ:PL 1/1:0,61:61:99:2588,183,0 -chr1 1063121 . G C 109.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=-0.524;DP=5;ExcessHet=0;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.93;ReadPosRankSum=-0.524;SOR=2.833 GT:AD:DP:GQ:PL 0/1:2,3:5:75:117,0,75 -chr1 1066726 . G A 40.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=-0.242;DP=13;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.13;ReadPosRankSum=1.089;SOR=0.551 GT:AD:DP:GQ:PL 0/1:11,2:13:48:48,0,436 -chr1 1067007 . A G 46.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=-0.853;DP=36;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.33;ReadPosRankSum=-2.414;SOR=0.634 GT:AD:DP:GQ:PL 0/1:31,4:35:54:54,0,1179 -chr1 1067159 . G A 55.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=0.985;DP=25;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.32;ReadPosRankSum=-0.044;SOR=1.061 GT:AD:DP:GQ:PL 0/1:21,3:24:63:63,0,842 -chr1 1068165 . G T 55.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=0.549;DP=9;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.18;ReadPosRankSum=-1.383;SOR=0.495 GT:AD:DP:GQ:PL 0/1:7,2:9:63:63,0,266 -chr1 1068249 . C T 115.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=-0.411;DP=18;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.42;ReadPosRankSum=-0.16;SOR=0.693 GT:AD:DP:GQ:PL 0/1:14,4:18:99:123,0,569 -chr1 1068664 . T C 99.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=0.668;DP=68;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=56.15;MQRankSum=-0.681;QD=1.47;ReadPosRankSum=-0.242;SOR=0.631 GT:AD:DP:GQ:PL 0/1:61,7:68:99:107,0,2392 -chr1 1068727 . T C 61.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=0.802;DP=25;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.65;MQRankSum=-4.502;QD=2.8;ReadPosRankSum=-0.672;SOR=0.199 GT:AD:DP:GQ:PL 0/1:19,3:22:69:69,0,771 -chr1 1068951 . C T 474.06 . AC=2;AF=1;AN=2;DP=12;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.7;SOR=1.022 GT:AD:DP:GQ:PL 1/1:0,12:12:36:488,36,0 -chr1 1071610 . G A 710.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=-0.829;DP=39;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.7;ReadPosRankSum=2.543;SOR=0.711 GT:AD:DP:GQ:PL 0/1:19,19:38:99:718,0,729 -chr1 1071750 . GC G 42.60 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.086;DP=15;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.84;ReadPosRankSum=1.23;SOR=0.527;VQSLOD=5.30;culprit=QD GT:AD:DP:GQ:PL 0/1:12,3:15:50:50,0,357 -chr1 1071823 . A G 145.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=0.847;DP=9;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.18;ReadPosRankSum=-1.18;SOR=0.446 GT:AD:DP:GQ:PL 0/1:5,4:9:99:153,0,190 -chr1 1071842 . G T 67.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=0.524;DP=5;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=-1.036;SOR=0.368 GT:AD:DP:GQ:PL 0/1:3,2:5:75:75,0,120 -chr1 1071872 . C CG 49.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=24.64;SOR=2.303;VQSLOD=-5.227e-01;culprit=SOR GT:AD:DP:GQ:PL 1/1:0,2:2:6:61,6,0 -chr1 1072067 . G T 37.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=0.85;DP=16;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.51;ReadPosRankSum=-1.106;SOR=0.569 GT:AD:DP:GQ:PL 0/1:13,2:15:45:45,0,515 -chr1 1074098 . G C 190.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=0.703;DP=11;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.83;ReadPosRankSum=-2.369;SOR=0.799 GT:AD:DP:GQ:PL 0/1:3,5:8:99:198,0,103 -chr1 1080437 . G A 75.32 . AC=2;AF=1;AN=2;DP=3;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=30.01;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:87,6,0 -chr1 1081961 . G T 326.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=-1.755;DP=22;ExcessHet=0;FS=3.821;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.85;ReadPosRankSum=-0.132;SOR=1.609 GT:AD:DP:GQ:PL 0/1:12,10:22:99:334,0,458 -chr1 1082207 . C T 280.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=1.335;DP=26;ExcessHet=0;FS=1.718;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=-2.362;SOR=0.34 GT:AD:DP:GQ:PL 0/1:16,8:24:99:288,0,623 -chr1 1085966 . A G 148.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=0.674;DP=8;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.58;ReadPosRankSum=-1.133;SOR=0.693 GT:AD:DP:GQ:PL 0/1:4,4:8:99:156,0,138 -chr1 1090943 . T C 67.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=1.645;DP=6;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=0.524;SOR=0.368 GT:AD:DP:GQ:PL 0/1:3,2:5:75:75,0,80 -chr1 1091421 . T A 78.32 . AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=31.66;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 1094198 . C T 197.96 . AC=2;AF=1;AN=2;DP=5;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.68;SOR=1.022 GT:AD:DP:GQ:PL 1/1:0,5:5:15:212,15,0 -chr1 1095185 . C T 52.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=0.589;DP=9;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.85;ReadPosRankSum=-1.593;SOR=0.495 GT:AD:DP:GQ:PL 0/1:7,2:9:60:60,0,245 -chr1 1095242 . C CA 42.60 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.674;DP=5;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;NEGATIVE_TRAIN_SITE;QD=10.65;ReadPosRankSum=0;SOR=2.303;VQSLOD=-2.376e+00;culprit=SOR GT:AD:DP:GQ:PL 0/1:2,2:4:50:50,0,50 -chr1 1096160 . A G 252.97 . AC=2;AF=1;AN=2;DP=6;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.24;SOR=1.329 GT:AD:DP:GQ:PL 1/1:0,6:6:18:267,18,0 -chr1 1096593 . C T 70.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.66;ReadPosRankSum=-0.674;SOR=0.693 GT:AD:DP:GQ:PL 0/1:2,2:4:78:78,0,78 -chr1 1096804 . A G 78.32 . AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=30.72;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 1097893 . C CT 50.28 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=25.14;SOR=0.693;VQSLOD=-1.433e-01;culprit=QD GT:AD:DP:GQ:PL 1/1:0,2:2:6:62,6,0 -chr1 1098619 . C T 75.32 . AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=31.01;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:87,6,0 -chr1 1112230 . C T 70.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.66;ReadPosRankSum=-1.383;SOR=0.693 GT:AD:DP:GQ:PL 0/1:2,2:4:78:78,0,78 -chr1 1112351 . A G 121.84 . AC=2;AF=1;AN=2;DP=3;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=30.69;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 -chr1 1112385 . G A 78.32 . AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=29.78;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 1112865 . T C 61.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=0.366;DP=8;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.81;ReadPosRankSum=-0.566;SOR=0.446 GT:AD:DP:GQ:PL 0/1:5,2:7:69:69,0,191 -chr1 1112892 . T C 46.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=-0.566;DP=12;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.89;ReadPosRankSum=-0.865;SOR=0.693 GT:AD:DP:GQ:PL 0/1:10,2:12:54:54,0,414 -chr1 1112897 . T C 46.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=-0.775;DP=12;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.89;ReadPosRankSum=-0.865;SOR=0.693 GT:AD:DP:GQ:PL 0/1:10,2:12:54:54,0,414 -chr1 1112951 . T C 226.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=0.389;DP=12;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.89;ReadPosRankSum=1.506;SOR=0.693 GT:AD:DP:GQ:PL 0/1:6,6:12:99:234,0,234 -chr1 1112952 . T C 226.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=1.616;DP=12;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.89;ReadPosRankSum=1.506;SOR=0.693 GT:AD:DP:GQ:PL 0/1:6,6:12:99:234,0,234 -chr1 1113318 . T C 299.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=1.712;DP=19;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.65;ReadPosRankSum=-0.534;SOR=0.412 GT:AD:DP:GQ:PL 0/1:10,8:18:99:307,0,323 -chr1 1113490 . T C 61.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.81;ReadPosRankSum=0.712;SOR=0.446 GT:AD:DP:GQ:PL 0/1:5,2:7:69:69,0,204 -chr1 1113525 . T C 58.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=0.319;DP=8;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.33;ReadPosRankSum=2.1;SOR=0.307 GT:AD:DP:GQ:PL 0/1:6,2:8:66:66,0,243 -chr1 1114590 . T C 43.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=0.36;DP=12;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.64;ReadPosRankSum=-1.188;SOR=0.693 GT:AD:DP:GQ:PL 0/1:10,2:12:51:51,0,344 -chr1 1114927 . CG C 59.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=29.64;SOR=0.693;VQSLOD=0.633;culprit=SOR GT:AD:DP:GQ:PL 1/1:0,2:2:6:71,6,0 -chr1 1130087 . T A 65.32 . AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=32.66;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:77,6,0 -chr1 1153882 . A G 78.32 . AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=30.54;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 1158233 . G A 34.32 . AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=17.16;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:46,6,0 -chr1 1158404 . G A 57.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=-0.431;DP=4;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.41;ReadPosRankSum=-1.383;SOR=0.693 GT:AD:DP:GQ:PL 0/1:2,2:4:65:65,0,70 -chr1 1160239 . C G 155.14 . AC=2;AF=1;AN=2;DP=4;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.15;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,4:4:12:169,12,0 -chr1 1160818 . C T 70.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.66;ReadPosRankSum=0;SOR=0.693 GT:AD:DP:GQ:PL 0/1:2,2:4:78:78,0,78 -chr1 1161720 . C T 86.84 . AC=2;AF=1;AN=2;DP=3;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=28.95;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,3:3:9:100,9,0 -chr1 1161907 . T C 121.84 . AC=2;AF=1;AN=2;DP=3;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=31.7;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 -chr1 1162886 . C T 349.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=-0.66;DP=11;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=31.79;ReadPosRankSum=-1.097;SOR=0.892 GT:AD:DP:GQ:PL 0/1:2,9:11:57:357,0,57 -chr1 1163041 . C T 1692.06 . AC=2;AF=1;AN=2;DP=44;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.17;SOR=0.741 GT:AD:DP:GQ:PL 1/1:0,41:41:99:1706,123,0 -chr1 1163178 . C T 49.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=-0.842;DP=11;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.96;ReadPosRankSum=0.728;SOR=0.693 GT:AD:DP:GQ:PL 0/1:8,2:10:57:57,0,327 -chr1 1163440 . TCC T,TC 214.02 PASS AC=1,1;AF=0.5,0.5;AN=2;DP=8;ExcessHet=0;FS=0;MLEAC=1,1;MLEAF=0.5,0.5;MQ=60;QD=30.57;SOR=0.941;VQSLOD=-1.906e-01;culprit=DP GT:AD:DP:GQ:PL 1/2:0,4,3:7:70:231,82,70,121,0,101 -chr1 1163962 . A C 639.06 . AC=2;AF=1;AN=2;DP=21;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.86;SOR=0.941 GT:AD:DP:GQ:PL 1/1:0,16:16:48:653,48,0 -chr1 1164837 . C T 857.06 . AC=2;AF=1;AN=2;DP=22;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.53;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,20:20:60:871,60,0 -chr1 1164939 . C A 312.68 . AC=1;AF=0.5;AN=2;BaseQRankSum=0.967;DP=10;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=34.74;ReadPosRankSum=-1.593;SOR=0.223 GT:AD:DP:GQ:PL 0/1:1,8:9:10:320,0,10 -chr1 1165623 . C T 911.06 . AC=2;AF=1;AN=2;DP=21;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.68;SOR=0.784 GT:AD:DP:GQ:PL 1/1:0,21:21:63:925,63,0 -chr1 1165943 . G A 249.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=-1.658;DP=17;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.68;ReadPosRankSum=0.147;SOR=0.941 GT:AD:DP:GQ:PL 0/1:10,7:17:99:257,0,399 -chr1 1166689 . A G 478.06 . AC=2;AF=1;AN=2;DP=11;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.25;SOR=0.859 GT:AD:DP:GQ:PL 1/1:0,11:11:33:492,33,0 -chr1 1167682 . C T 39.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=-1.221;DP=10;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.96;ReadPosRankSum=-1.501;SOR=0.693 GT:AD:DP:GQ:PL 0/1:8,2:10:47:47,0,319 -chr1 1167762 . C G 52.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=0.728;DP=10;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.26;ReadPosRankSum=-2.287;SOR=0.693 GT:AD:DP:GQ:PL 0/1:8,2:10:60:60,0,305 -chr1 1168162 . T C 75.32 . AC=2;AF=1;AN=2;DP=3;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=28.47;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:87,6,0 -chr1 1168310 . T TCA 335.92 PASS AC=2;AF=1;AN=2;BaseQRankSum=1.593;DP=10;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=26.77;ReadPosRankSum=-1.593;SOR=0.446;VQSLOD=4.75;culprit=ReadPosRankSum GT:AD:DP:GQ:PL 1/1:1,8:9:17:350,17,0 -chr1 1168578 . T G 556.06 . AC=2;AF=1;AN=2;DP=13;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.61;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,13:13:39:570,39,0 -chr1 1168643 . C T 55.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=0.282;DP=11;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.18;ReadPosRankSum=0.282;SOR=0.223 GT:AD:DP:GQ:PL 0/1:7,2:9:63:63,0,270 -chr1 1169204 . T C 78.32 . AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=30.95;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 1169591 . C A 174.66 . AC=1;AF=0.5;AN=2;BaseQRankSum=0.967;DP=6;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=29.11;ReadPosRankSum=1.383;SOR=0.707 GT:AD:DP:GQ:PL 0/1:1,5:6:14:182,0,14 -chr1 1169858 . T C 121.84 . AC=2;AF=1;AN=2;DP=3;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=28.43;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 -chr1 1221034 . C T 58.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=0.319;DP=8;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.33;ReadPosRankSum=0.854;SOR=0.307 GT:AD:DP:GQ:PL 0/1:6,2:8:66:66,0,233 -chr1 1221498 . T C 151.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=-0.431;DP=6;ExcessHet=0;FS=3.31;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=25.27;ReadPosRankSum=-0.431;SOR=0.105 GT:AD:DP:GQ:PL 0/1:2,4:6:72:159,0,72 -chr1 1223251 . A G 522.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=0.834;DP=26;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=32.66;ReadPosRankSum=-2.153;SOR=0.976 GT:AD:DP:GQ:PL 0/1:2,14:16:34:530,0,34 -chr1 1224137 . T C 107.84 . AC=2;AF=1;AN=2;DP=3;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=35.49;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,3:3:9:121,9,0 -chr1 1226946 . A G 166.14 . AC=2;AF=1;AN=2;DP=4;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.71;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,4:4:12:180,12,0 -chr1 1232278 . C T 37.64 . AC=1;AF=0.5;AN=2;BaseQRankSum=-0.764;DP=14;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.69;ReadPosRankSum=-1.391;SOR=0.693 GT:AD:DP:GQ:PL 0/1:12,2:14:45:45,0,486 diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/htcaller/s001_indels.1rd.flt.vcf.idx b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/htcaller/s001_indels.1rd.flt.vcf.idx deleted file mode 100644 index eabee42..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/htcaller/s001_indels.1rd.flt.vcf.idx and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/htcaller/s001_snvs.1rd.flt.vcf b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/htcaller/s001_snvs.1rd.flt.vcf deleted file mode 100644 index 4ae4cbb..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/htcaller/s001_snvs.1rd.flt.vcf +++ /dev/null @@ -1,483 +0,0 @@ -##fileformat=VCFv4.2 -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##GATKCommandLine= -##GATKCommandLine= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##bcftools_concatCommand=concat -O z -a -o results/indel-test_SE/rnaseq/indel/htcaller/s001_variants.1rd.vcf.gz results/indel-test_SE/rnaseq/indel/htcaller/s001_variants.1rd/chr21.vcf.gz results/indel-test_SE/rnaseq/indel/htcaller/s001_variants.1rd/chr11.vcf.gz results/indel-test_SE/rnaseq/indel/htcaller/s001_variants.1rd/chr9.vcf.gz results/indel-test_SE/rnaseq/indel/htcaller/s001_variants.1rd/chr6.vcf.gz results/indel-test_SE/rnaseq/indel/htcaller/s001_variants.1rd/chr3.vcf.gz results/indel-test_SE/rnaseq/indel/htcaller/s001_variants.1rd/chr12.vcf.gz results/indel-test_SE/rnaseq/indel/htcaller/s001_variants.1rd/chr10.vcf.gz results/indel-test_SE/rnaseq/indel/htcaller/s001_variants.1rd/chrMT.vcf.gz results/indel-test_SE/rnaseq/indel/htcaller/s001_variants.1rd/chr13.vcf.gz results/indel-test_SE/rnaseq/indel/htcaller/s001_variants.1rd/chr8.vcf.gz results/indel-test_SE/rnaseq/indel/htcaller/s001_variants.1rd/chr14.vcf.gz results/indel-test_SE/rnaseq/indel/htcaller/s001_variants.1rd/chr5.vcf.gz results/indel-test_SE/rnaseq/indel/htcaller/s001_variants.1rd/chr2.vcf.gz results/indel-test_SE/rnaseq/indel/htcaller/s001_variants.1rd/chr22.vcf.gz results/indel-test_SE/rnaseq/indel/htcaller/s001_variants.1rd/chr19.vcf.gz results/indel-test_SE/rnaseq/indel/htcaller/s001_variants.1rd/chr20.vcf.gz results/indel-test_SE/rnaseq/indel/htcaller/s001_variants.1rd/chr17.vcf.gz results/indel-test_SE/rnaseq/indel/htcaller/s001_variants.1rd/chr18.vcf.gz results/indel-test_SE/rnaseq/indel/htcaller/s001_variants.1rd/chr16.vcf.gz results/indel-test_SE/rnaseq/indel/htcaller/s001_variants.1rd/chr7.vcf.gz results/indel-test_SE/rnaseq/indel/htcaller/s001_variants.1rd/chr4.vcf.gz results/indel-test_SE/rnaseq/indel/htcaller/s001_variants.1rd/chrX.vcf.gz results/indel-test_SE/rnaseq/indel/htcaller/s001_variants.1rd/chr1.vcf.gz results/indel-test_SE/rnaseq/indel/htcaller/s001_variants.1rd/chrY.vcf.gz results/indel-test_SE/rnaseq/indel/htcaller/s001_variants.1rd/chr15.vcf.gz; Date=Sat May 18 03:59:35 2024 -##bcftools_concatVersion=1.9+htslib-1.9 -##bcftools_viewCommand=view -O z -o results/indel-test_SE/rnaseq/indel/htcaller/s001_variants.1rd/chr21.vcf.gz; Date=Sat May 18 03:59:34 2024 -##bcftools_viewVersion=1.9+htslib-1.9 -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##source=ApplyVQSR -##source=HaplotypeCaller -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT unknown -chrMT 9774 . G A 423.64 VQSRTrancheBOTH99.90to100.00 AC=1;AF=0.5;AN=2;BaseQRankSum=1.004;DP=34;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=41.43;MQRankSum=-0.266;NEGATIVE_TRAIN_SITE;QD=13.67;ReadPosRankSum=-0.919;SOR=0.602;VQSLOD=-1.385e+01;culprit=ReadPosRankSum GT:AD:DP:GQ:PL 0/1:19,12:31:99:431,0,674 -chr8 213370 . C G 41.32 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=22;QD=20.66;SOR=0.693;VQSLOD=-1.626e+00;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,2:2:6:53,6,0 -chr8 213387 . C T 41.32 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=22;NEGATIVE_TRAIN_SITE;QD=20.66;SOR=0.693;VQSLOD=-7.631e+00;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,2:2:6:53,6,0 -chr8 213438 . C T 41.32 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=22;POSITIVE_TRAIN_SITE;QD=20.66;SOR=0.693;VQSLOD=3.31;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,2:2:6:53,6,0 -chr2 130229486 . G A 346.04 VQSRTrancheBOTH99.90to100.00 AC=2;AF=1;AN=2;DP=8;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=27.19;NEGATIVE_TRAIN_SITE;QD=25.36;SOR=0.693;VQSLOD=-1.898e+01;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,8:8:24:360,24,0 -chr2 130229492 . G A 419.06 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=25.03;NEGATIVE_TRAIN_SITE;QD=28.73;SOR=1.27;VQSLOD=-7.850e+00;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,11:11:33:433,33,0 -chr2 130229520 . G A 455.06 PASS AC=2;AF=1;AN=2;DP=17;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=24.31;NEGATIVE_TRAIN_SITE;QD=26.77;SOR=1.371;VQSLOD=-1.225e+01;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,17:17:51:469,51,0 -chr2 130229579 . T C 581.06 VQSRTrancheBOTH99.90to100.00 AC=2;AF=1;AN=2;DP=25;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=23.21;NEGATIVE_TRAIN_SITE;QD=25.26;SOR=0.963;VQSLOD=-1.706e+01;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,23:23:69:595,69,0 -chr2 130229607 . G C 211.05 VQSRTrancheBOTH99.90to100.00 AC=2;AF=1;AN=2;DP=18;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=21.13;NEGATIVE_TRAIN_SITE;QD=23.45;SOR=2.093;VQSLOD=-3.092e+01;culprit=SOR GT:AD:DP:GQ:PL 1/1:0,9:9:27:225,27,0 -chr2 130229647 . A T 328.05 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=45.56;QD=30.97;SOR=0.892;VQSLOD=1.24;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,9:9:27:342,27,0 -chr2 130229689 . A G 532.06 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=46.97;QD=27.24;SOR=0.836;VQSLOD=0.377;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,13:13:39:546,39,0 -chr2 130229709 . T G 529.06 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=46.97;QD=28.2;SOR=0.836;VQSLOD=0.317;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,13:13:39:543,39,0 -chr2 130229735 . T G 550.06 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=46.97;NEGATIVE_TRAIN_SITE;QD=25;SOR=0.836;VQSLOD=-5.620e+00;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,13:13:39:564,39,0 -chr2 130229747 . A G 706.06 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=44;QD=29.56;SOR=0.941;VQSLOD=1.65;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,16:16:48:720,48,0 -chr2 130229753 . G A 782.06 PASS AC=2;AF=1;AN=2;DP=18;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=45.51;QD=30.62;SOR=0.914;VQSLOD=-2.724e+00;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,18:18:54:796,54,0 -chr2 130229756 . G A 782.06 PASS AC=2;AF=1;AN=2;DP=18;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=45.51;QD=28.17;SOR=0.914;VQSLOD=-2.036e+00;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,18:18:54:796,54,0 -chr2 130229803 . G C 637.06 PASS AC=2;AF=1;AN=2;DP=18;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=44.68;NEGATIVE_TRAIN_SITE;QD=26.8;SOR=0.941;VQSLOD=-4.088e+00;culprit=FS GT:AD:DP:GQ:PL 1/1:0,16:16:48:651,48,0 -chr2 130229817 . C G 860.06 PASS AC=2;AF=1;AN=2;DP=22;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=44.59;QD=26;SOR=0.693;VQSLOD=-4.943e-01;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,22:22:66:874,66,0 -chr2 130229920 . A G 935.06 PASS AC=2;AF=1;AN=2;DP=28;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=41.53;NEGATIVE_TRAIN_SITE;QD=30.02;SOR=0.859;VQSLOD=-8.246e+00;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,24:24:72:949,72,0 -chr2 130229974 . T C 78.32 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=35.32;NEGATIVE_TRAIN_SITE;QD=31.98;SOR=0.693;VQSLOD=-3.707e+00;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr2 130229975 . G A 78.32 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=35.32;NEGATIVE_TRAIN_SITE;QD=27.51;SOR=0.693;VQSLOD=-6.782e+00;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr2 130230633 . T C 311.04 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.11;SOR=1.179;VQSLOD=0.260;culprit=FS GT:AD:DP:GQ:PL 1/1:0,8:8:24:325,24,0 -chr2 130230668 . T C 583.06 PASS AC=2;AF=1;AN=2;DP=15;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=49.87;QD=28.08;SOR=0.818;VQSLOD=-2.650e+00;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,15:15:45:597,45,0 -chr2 130230679 . G A 517.06 PASS AC=2;AF=1;AN=2;DP=15;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=49.87;NEGATIVE_TRAIN_SITE;QD=34.47;SOR=0.818;VQSLOD=-2.643e+00;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,15:15:44:531,44,0 -chr2 130230727 . A G 583.06 PASS AC=2;AF=1;AN=2;DP=15;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=49.87;QD=23.23;SOR=0.818;VQSLOD=-2.483e+00;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,15:15:45:597,45,0 -chr2 130230790 . A G 81.84 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=34.87;QD=27.28;SOR=1.179;VQSLOD=-3.385e+00;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,3:3:9:95,9,0 -chr2 130230924 . A G 39.32 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=21;NEGATIVE_TRAIN_SITE;QD=19.66;SOR=0.693;VQSLOD=-5.269e+00;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,2:2:6:51,6,0 -chr2 130231008 . C T 39.32 VQSRTrancheBOTH99.90to100.00 AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=21;NEGATIVE_TRAIN_SITE;QD=19.66;SOR=0.693;VQSLOD=-2.213e+01;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,2:2:6:51,6,0 -chr2 130231176 . C G 282.04 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=35.14;NEGATIVE_TRAIN_SITE;QD=29.03;SOR=1.179;VQSLOD=-8.789e+00;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,8:8:24:296,24,0 -chr2 130231189 . T G 462.06 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=38.54;NEGATIVE_TRAIN_SITE;QD=30.67;SOR=1.022;VQSLOD=-7.550e+00;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,12:12:36:476,36,0 -chr2 130231202 . C A 613.06 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=38.5;QD=26.61;SOR=1.244;VQSLOD=1.10;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,16:16:48:627,48,0 -chr2 130231206 . C T 47.64 VQSRTrancheBOTH99.90to100.00 AC=1;AF=0.5;AN=2;BaseQRankSum=-1.093;DP=16;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=38.5;MQRankSum=-1.499;NEGATIVE_TRAIN_SITE;QD=2.98;ReadPosRankSum=1.148;SOR=0.693;VQSLOD=-5.443e+01;culprit=MQRankSum GT:AD:DP:GQ:PL 0/1:13,3:16:55:55,0,449 -chr2 130231240 . A G 603.06 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=38.5;QD=29.2;SOR=1.244;VQSLOD=2.45;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,16:16:48:617,48,0 -chr2 130231320 . G A 125.14 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=42.12;QD=31.29;SOR=1.609;VQSLOD=-8.324e-01;culprit=DP GT:AD:DP:GQ:PL 1/1:0,4:4:12:139,12,0 -chr2 131442793 . T C 121.84 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=51.08;QD=28.55;SOR=1.179;VQSLOD=-1.120e+00;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 -chr2 131442797 . C G 121.84 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=51.08;QD=34.42;SOR=1.179;VQSLOD=-2.245e+00;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 -chr2 131442810 . C T 121.84 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=51.08;QD=28.53;SOR=1.179;VQSLOD=-2.017e+00;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 -chr2 131442829 . C T 121.84 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=51.08;QD=27.23;SOR=1.179;VQSLOD=-2.061e+00;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 -chr2 131442842 . T C 121.84 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=51.08;QD=29.52;SOR=1.179;VQSLOD=-2.054e+00;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 -chr2 131442846 . A G 121.84 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=51.08;QD=33.47;SOR=1.179;VQSLOD=-2.052e+00;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 -chr2 131443009 . A G 117.14 VQSRTrancheBOTH99.90to100.00 AC=2;AF=1;AN=2;DP=5;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=27.82;NEGATIVE_TRAIN_SITE;QD=29.29;SOR=1.609;VQSLOD=-1.798e+01;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,4:4:12:131,12,0 -chr2 131443024 . A G 185.97 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=35.78;NEGATIVE_TRAIN_SITE;QD=31;SOR=0.693;VQSLOD=-1.200e+01;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,6:6:18:200,18,0 -chr2 131443048 . G A 42.64 VQSRTrancheBOTH99.90to100.00 AC=1;AF=0.5;AN=2;BaseQRankSum=0.282;DP=9;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=35.78;MQRankSum=0;NEGATIVE_TRAIN_SITE;QD=4.74;ReadPosRankSum=0.14;SOR=0.223;VQSLOD=-3.276e+01;culprit=MQ GT:AD:DP:GQ:PL 0/1:7,2:9:50:50,0,220 -chr2 131443052 . G T 323.05 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=35.78;QD=32.91;SOR=1.402;VQSLOD=-3.002e-01;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,9:9:27:337,27,0 -chr2 131443065 . A C 309.05 VQSRTrancheBOTH99.90to100.00 AC=2;AF=1;AN=2;DP=9;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=35.78;NEGATIVE_TRAIN_SITE;QD=34.34;SOR=1.402;VQSLOD=-1.483e+01;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,9:9:27:323,27,0 -chr2 131443078 . G C 309.05 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=35.78;QD=34.34;SOR=1.402;VQSLOD=-5.539e-01;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,9:9:27:323,27,0 -chr2 131443100 . G C 309.05 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=35.78;QD=34.34;SOR=1.402;VQSLOD=-1.041e+00;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,9:9:27:323,27,0 -chr2 131443144 . G A 210.96 VQSRTrancheBOTH99.90to100.00 AC=2;AF=1;AN=2;DP=5;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=40.94;NEGATIVE_TRAIN_SITE;QD=31.31;SOR=3.611;VQSLOD=-1.373e+01;culprit=SOR GT:AD:DP:GQ:PL 1/1:0,5:5:15:225,15,0 -chr2 131443146 . T G 210.96 VQSRTrancheBOTH99.90to100.00 AC=2;AF=1;AN=2;DP=5;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=40.94;NEGATIVE_TRAIN_SITE;QD=31.45;SOR=3.611;VQSLOD=-1.339e+01;culprit=SOR GT:AD:DP:GQ:PL 1/1:0,5:5:15:225,15,0 -chr2 131443797 . C G 78.32 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=47;NEGATIVE_TRAIN_SITE;QD=33.27;SOR=0.693;VQSLOD=-3.116e+00;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr2 131443801 . G A 78.32 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=47;NEGATIVE_TRAIN_SITE;QD=31.26;SOR=0.693;VQSLOD=-4.252e+00;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr2 131443807 . G A 78.32 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=49.04;NEGATIVE_TRAIN_SITE;QD=27.76;SOR=0.693;VQSLOD=-4.206e+00;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr2 131443869 . A G 240.02 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=39.32;NEGATIVE_TRAIN_SITE;QD=34.29;SOR=0.941;VQSLOD=-6.022e+00;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,7:7:21:254,21,0 -chr2 131443961 . G A 661.06 PASS AC=2;AF=1;AN=2;DP=15;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=35.1;QD=29.09;SOR=1.112;VQSLOD=0.511;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,15:15:45:675,45,0 -chr2 131443973 . T A 661.06 PASS AC=2;AF=1;AN=2;DP=15;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=35.1;QD=26.08;SOR=1.112;VQSLOD=-3.288e-01;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,15:15:45:675,45,0 -chr2 131444000 . A G 526.06 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=37.95;QD=33.85;SOR=1.022;VQSLOD=-1.008e+00;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,12:12:36:540,36,0 -chr2 131444009 . A G 526.06 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=37.95;NEGATIVE_TRAIN_SITE;POSITIVE_TRAIN_SITE;QD=27.08;SOR=1.022;VQSLOD=-1.037e+01;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,12:12:36:540,36,0 -chr2 131444045 . T C 283.02 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=35.07;QD=25.42;SOR=0.941;VQSLOD=-9.100e-03;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,7:7:21:297,21,0 -chr2 131444062 . A G 210.96 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=35.61;NEGATIVE_TRAIN_SITE;QD=27.65;SOR=1.981;VQSLOD=-1.173e+01;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,5:5:15:225,15,0 -chr2 131444082 . A G 78.32 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=38;QD=29.48;SOR=0.693;VQSLOD=-7.678e-01;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 190768 . G A 41.32 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=22;QD=20.66;SOR=0.693;VQSLOD=-3.060e+00;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,2:2:6:53,6,0 -chr1 778034 . GAA G 64.60 . AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=52.75;MQRankSum=1.383;QD=16.15;ReadPosRankSum=-1.383;SOR=0.693 GT:AD:DP:GQ:PL 0/1:2,2:4:72:72,0,78 -chr1 778051 . T C 64.64 VQSRTrancheBOTH99.90to100.00 AC=1;AF=0.5;AN=2;BaseQRankSum=0.524;DP=5;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=52.75;MQRankSum=-0.674;NEGATIVE_TRAIN_SITE;QD=12.93;ReadPosRankSum=0.674;SOR=0.368;VQSLOD=-1.487e+01;culprit=MQ GT:AD:DP:GQ:PL 0/1:3,2:5:72:72,0,101 -chr1 778082 . T C 73.64 VQSRTrancheBOTH99.90to100.00 AC=1;AF=0.5;AN=2;BaseQRankSum=0.967;DP=3;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=47.3;MQRankSum=0.967;NEGATIVE_TRAIN_SITE;QD=24.55;ReadPosRankSum=-0.967;SOR=0.223;VQSLOD=-3.750e+01;culprit=MQRankSum GT:AD:DP:GQ:PL 0/1:1,2:3:36:81,0,36 -chr1 778083 . T C 73.64 VQSRTrancheBOTH99.90to100.00 AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=47.3;MQRankSum=0.967;NEGATIVE_TRAIN_SITE;QD=24.55;ReadPosRankSum=-0.967;SOR=0.223;VQSLOD=-3.810e+01;culprit=MQRankSum GT:AD:DP:GQ:PL 0/1:1,2:3:36:81,0,36 -chr1 778906 . G T 77.64 VQSRTrancheBOTH99.90to100.00 AC=1;AF=0.5;AN=2;BaseQRankSum=-0.524;DP=5;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=34.16;MQRankSum=-1.645;NEGATIVE_TRAIN_SITE;QD=15.53;ReadPosRankSum=-1.645;SOR=1.179;VQSLOD=-1.976e+01;culprit=MQRankSum GT:AD:DP:GQ:PL 0/1:2,3:5:71:85,0,71 -chr1 778984 . G A 56.64 VQSRTrancheBOTH99.90to100.00 AC=1;AF=0.5;AN=2;BaseQRankSum=-0.431;DP=3;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=31.35;MQRankSum=0.967;NEGATIVE_TRAIN_SITE;QD=18.88;ReadPosRankSum=0.967;SOR=0.223;VQSLOD=-4.661e+01;culprit=MQRankSum GT:AD:DP:GQ:PL 0/1:1,2:3:26:64,0,26 -chr1 779196 . G T 52.64 VQSRTrancheBOTH99.90to100.00 AC=1;AF=0.5;AN=2;BaseQRankSum=0.253;DP=10;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=52.76;MQRankSum=1.501;NEGATIVE_TRAIN_SITE;QD=5.26;ReadPosRankSum=-0.967;SOR=0.693;VQSLOD=-7.613e+01;culprit=MQRankSum GT:AD:DP:GQ:PL 0/1:8,2:10:60:60,0,291 -chr1 779968 . T G 421.06 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=43.95;POSITIVE_TRAIN_SITE;QD=25.36;SOR=0.859;VQSLOD=-1.527e+00;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,11:11:33:435,33,0 -chr1 781047 . C T 31.64 VQSRTrancheBOTH99.90to100.00 AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=22.69;MQRankSum=1.834;NEGATIVE_TRAIN_SITE;QD=5.27;ReadPosRankSum=-0.842;SOR=0.693;VQSLOD=-1.558e+02;culprit=MQRankSum GT:AD:DP:GQ:PL 0/1:4,2:6:39:39,0,89 -chr1 783175 . T C 105.84 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=38.09;QD=28.73;SOR=1.179;VQSLOD=0.844;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,3:3:9:119,9,0 -chr1 794299 . C G 66.32 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=34;NEGATIVE_TRAIN_SITE;POSITIVE_TRAIN_SITE;QD=33.16;SOR=0.693;VQSLOD=-6.234e+00;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,2:2:6:78,6,0 -chr1 797585 . G T 60.32 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=31;QD=30.16;SOR=0.693;VQSLOD=-1.855e+00;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,2:2:6:72,6,0 -chr1 817186 . G A 378.06 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=53.45;POSITIVE_TRAIN_SITE;QD=34.37;SOR=0.859;VQSLOD=0.911;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,11:11:32:392,32,0 -chr1 817233 . CA C 33.60 . AC=1;AF=0.5;AN=2;BaseQRankSum=0.728;DP=11;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=53.94;MQRankSum=-2.287;QD=3.36;ReadPosRankSum=-0.493;SOR=0.368 GT:AD:DP:GQ:PL 0/1:8,2:10:41:41,0,255 -chr1 817257 . T C 231.64 VQSRTrancheBOTH99.90to100.00 AC=1;AF=0.5;AN=2;BaseQRankSum=2.128;DP=10;ExcessHet=0;FS=2.808;MLEAC=1;MLEAF=0.5;MQ=53.29;MQRankSum=1.016;NEGATIVE_TRAIN_SITE;QD=23.16;ReadPosRankSum=-0.405;SOR=1.108;VQSLOD=-2.286e+01;culprit=MQRankSum GT:AD:DP:GQ:PL 0/1:4,6:10:99:239,0,113 -chr1 817341 . A G,AG 416.06 . AC=1,1;AF=0.5,0.5;AN=2;DP=11;ExcessHet=0;FS=0;MLEAC=1,1;MLEAF=0.5,0.5;MQ=60;QD=30.97;SOR=0.859 GT:AD:DP:GQ:PL 1/2:0,9,2:11:34:433,61,34,303,0,274 -chr1 818094 . C G 84.84 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=28;NEGATIVE_TRAIN_SITE;QD=28.28;SOR=1.179;VQSLOD=-8.350e+00;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,3:3:9:98,9,0 -chr1 818802 . A G 255.97 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=43.82;NEGATIVE_TRAIN_SITE;POSITIVE_TRAIN_SITE;QD=27.24;SOR=1.329;VQSLOD=-6.081e+00;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,6:6:18:270,18,0 -chr1 818812 . A G 255.97 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=43.82;POSITIVE_TRAIN_SITE;QD=28.2;SOR=1.329;VQSLOD=1.85;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,6:6:18:270,18,0 -chr1 818954 . T C 102.84 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=40.98;POSITIVE_TRAIN_SITE;QD=34.28;SOR=1.179;VQSLOD=0.016;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,3:3:9:116,9,0 -chr1 819123 . G A 244.97 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=55.43;POSITIVE_TRAIN_SITE;QD=25;SOR=0.693;VQSLOD=0.011;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,6:6:18:259,18,0 -chr1 819584 . C T 39.32 VQSRTrancheBOTH99.90to100.00 AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=21;NEGATIVE_TRAIN_SITE;POSITIVE_TRAIN_SITE;QD=19.66;SOR=0.693;VQSLOD=-1.304e+01;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,2:2:6:51,6,0 -chr1 820395 . A G 78.32 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=29.56;SOR=0.693;VQSLOD=0.919;culprit=QD GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 822354 . C T 57.32 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=28.66;SOR=0.693;VQSLOD=0.763;culprit=SOR GT:AD:DP:GQ:PL 1/1:0,2:2:6:69,6,0 -chr1 822764 . A G 75.32 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=30.62;SOR=0.693;VQSLOD=0.500;culprit=SOR GT:AD:DP:GQ:PL 1/1:0,2:2:6:87,6,0 -chr1 822944 . T C 78.32 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=28.17;SOR=0.693;VQSLOD=0.449;culprit=QD GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 823246 . C T 78.32 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=26.8;SOR=0.693;VQSLOD=-8.170e-02;culprit=QD GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 825767 . T C 163.14 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=44.02;NEGATIVE_TRAIN_SITE;POSITIVE_TRAIN_SITE;QD=26;SOR=0.693;VQSLOD=-6.636e+00;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,4:4:12:177,12,0 -chr1 837375 . A C 74.32 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=38;POSITIVE_TRAIN_SITE;QD=30.02;SOR=0.693;VQSLOD=-4.790e-01;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,2:2:6:86,6,0 -chr1 839183 . GA G 36.60 . AC=1;AF=0.5;AN=2;BaseQRankSum=0.253;DP=6;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=23.36;MQRankSum=-1.501;QD=6.1;ReadPosRankSum=0;SOR=0.223 GT:AD:DP:GQ:PL 0/1:4,2:6:44:44,0,103 -chr1 839356 . A C 67.32 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=36.78;NEGATIVE_TRAIN_SITE;QD=33.66;SOR=2.303;VQSLOD=-1.133e+01;culprit=SOR GT:AD:DP:GQ:PL 1/1:0,2:2:6:79,6,0 -chr1 841742 . A T 745.06 PASS AC=2;AF=1;AN=2;DP=26;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=33.86;POSITIVE_TRAIN_SITE;QD=33.87;SOR=0.874;VQSLOD=5.80;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,22:22:66:759,66,0 -chr1 842922 . C CCT 333 . AC=2;AF=1;AN=2;DP=11;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=34.36;QD=31.98;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,8:8:24:347,24,0 -chr1 843189 . A G 768.06 PASS AC=2;AF=1;AN=2;DP=25;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=30.41;POSITIVE_TRAIN_SITE;QD=32;SOR=0.859;VQSLOD=5.87;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,24:24:72:782,72,0 -chr1 844647 . G T 333.04 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=47.72;POSITIVE_TRAIN_SITE;QD=27.51;SOR=1.179;VQSLOD=2.92;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,8:8:24:347,24,0 -chr1 845405 . T A 316.04 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=54.22;POSITIVE_TRAIN_SITE;QD=29.11;SOR=0.693;VQSLOD=0.812;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,8:8:24:330,24,0 -chr1 849670 . G A 194.96 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=46.79;POSITIVE_TRAIN_SITE;QD=28.08;SOR=1.022;VQSLOD=4.14;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 -chr1 851882 . C G 140.14 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=46.7;QD=23.23;SOR=0.693;VQSLOD=-3.215e+00;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,4:4:12:154,12,0 -chr1 852019 . G T 809.66 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.234;DP=24;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=49.04;MQRankSum=-1.428;NEGATIVE_TRAIN_SITE;POSITIVE_TRAIN_SITE;QD=29.03;ReadPosRankSum=-0.492;SOR=0.99;VQSLOD=-1.185e+01;culprit=MQRankSum GT:AD:DP:GQ:PL 0/1:2,21:23:13:817,0,13 -chr1 852305 . G T 39.32 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=21;NEGATIVE_TRAIN_SITE;QD=19.66;SOR=0.693;VQSLOD=-3.266e+00;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,2:2:6:51,6,0 -chr1 853565 . G C 78.32 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=23.98;NEGATIVE_TRAIN_SITE;QD=30.67;SOR=0.693;VQSLOD=-9.028e+00;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 853572 . G A 78.32 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=24.91;NEGATIVE_TRAIN_SITE;QD=26.61;SOR=0.693;VQSLOD=-6.940e+00;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 855378 . GTA G 121.80 . AC=2;AF=1;AN=2;DP=4;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=49.76;QD=29.2;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 -chr1 856883 . A G 220.05 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=26.7;NEGATIVE_TRAIN_SITE;QD=24.45;SOR=0.892;VQSLOD=-9.062e+00;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,9:9:27:234,27,0 -chr1 857100 . C T 397.06 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=22.09;POSITIVE_TRAIN_SITE;QD=24.82;SOR=0.941;VQSLOD=5.56;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,16:16:48:411,48,0 -chr1 897018 . T C 67.32 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=47.12;NEGATIVE_TRAIN_SITE;POSITIVE_TRAIN_SITE;QD=33.66;SOR=0.693;VQSLOD=-2.520e+00;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,2:2:6:79,6,0 -chr1 901763 . A G 70.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.66;ReadPosRankSum=-1.383;SOR=0.693;VQSLOD=4.75;culprit=ReadPosRankSum GT:AD:DP:GQ:PL 0/1:2,2:4:78:78,0,78 -chr1 902641 . C T 75.32 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=28.55;SOR=0.693;VQSLOD=1.27;culprit=SOR GT:AD:DP:GQ:PL 1/1:0,2:2:6:87,6,0 -chr1 902949 . G GC 53.28 . AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=26.64;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:65,6,0 -chr1 903007 . T C 78.32 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;POSITIVE_TRAIN_SITE;QD=34.42;SOR=0.693;VQSLOD=1.62;culprit=QD GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 904947 . G A 145.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=9;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.18;ReadPosRankSum=-0.531;SOR=0.446;VQSLOD=4.78;culprit=ReadPosRankSum GT:AD:DP:GQ:PL 0/1:5,4:9:99:153,0,198 -chr1 905705 . C G 181.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.998;DP=13;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;POSITIVE_TRAIN_SITE;QD=15.14;ReadPosRankSum=0.227;SOR=0.76;VQSLOD=6.86;culprit=ReadPosRankSum GT:AD:DP:GQ:PL 0/1:7,5:12:99:189,0,267 -chr1 906633 . T G 121.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.908;DP=13;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;POSITIVE_TRAIN_SITE;QD=11.06;ReadPosRankSum=0.176;SOR=0.495;VQSLOD=6.63;culprit=ReadPosRankSum GT:AD:DP:GQ:PL 0/1:7,4:11:99:129,0,266 -chr1 906982 . C T 688.06 PASS AC=2;AF=1;AN=2;DP=17;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;POSITIVE_TRAIN_SITE;QD=28.53;SOR=0.693;VQSLOD=1.97;culprit=SOR GT:AD:DP:GQ:PL 1/1:0,16:16:48:702,48,0 -chr1 907022 . C A 322.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.755;DP=16;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.16;ReadPosRankSum=0.568;SOR=0.732;VQSLOD=5.69;culprit=ReadPosRankSum GT:AD:DP:GQ:PL 0/1:7,9:16:99:330,0,264 -chr1 907236 . TAAA T 78.28 . AC=2;AF=1;AN=2;DP=4;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=27.23;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 907445 . A G 78.32 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;POSITIVE_TRAIN_SITE;QD=29.52;SOR=0.693;VQSLOD=1.45;culprit=SOR GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 908025 . A G 187.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.242;DP=9;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;POSITIVE_TRAIN_SITE;QD=20.85;ReadPosRankSum=-0.475;SOR=1.022;VQSLOD=5.80;culprit=ReadPosRankSum GT:AD:DP:GQ:PL 0/1:4,5:9:99:195,0,126 -chr1 908285 . A G 58.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.619;DP=8;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.33;ReadPosRankSum=-2.1;SOR=0.307;VQSLOD=4.65;culprit=DP GT:AD:DP:GQ:PL 0/1:6,2:8:66:66,0,239 -chr1 909894 . G T 132.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.842;DP=6;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;POSITIVE_TRAIN_SITE;QD=22.11;ReadPosRankSum=1.834;SOR=0.693;VQSLOD=7.16;culprit=QD GT:AD:DP:GQ:PL 0/1:2,4:6:72:140,0,72 -chr1 909903 . G T 255.97 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;POSITIVE_TRAIN_SITE;QD=33.47;SOR=0.693;VQSLOD=1.75;culprit=QD GT:AD:DP:GQ:PL 1/1:0,6:6:18:270,18,0 -chr1 910255 . C T 174.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.712;DP=7;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.95;ReadPosRankSum=-0.566;SOR=1.022;VQSLOD=4.17;culprit=ReadPosRankSum GT:AD:DP:GQ:PL 0/1:2,5:7:69:182,0,69 -chr1 910462 . G A 49.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.447;DP=12;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.51;ReadPosRankSum=0.66;SOR=0.527;VQSLOD=5.00;culprit=QD GT:AD:DP:GQ:PL 0/1:9,2:11:57:57,0,360 -chr1 910558 . G A 193.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.151;DP=17;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;POSITIVE_TRAIN_SITE;QD=11.39;ReadPosRankSum=-0.453;SOR=0.551;VQSLOD=6.21;culprit=ReadPosRankSum GT:AD:DP:GQ:PL 0/1:11,6:17:99:201,0,406 -chr1 910698 . C T 106.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.566;DP=7;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;POSITIVE_TRAIN_SITE;QD=15.23;ReadPosRankSum=-0.144;SOR=1.179;VQSLOD=5.59;culprit=DP GT:AD:DP:GQ:PL 0/1:4,3:7:99:114,0,156 -chr1 910958 . A G 480.06 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;POSITIVE_TRAIN_SITE;QD=32.91;SOR=1.27;VQSLOD=1.75;culprit=SOR GT:AD:DP:GQ:PL 1/1:0,11:11:33:494,33,0 -chr1 911018 . G A 352.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.213;DP=18;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;POSITIVE_TRAIN_SITE;QD=19.59;ReadPosRankSum=-1.089;SOR=0.627;VQSLOD=6.63;culprit=ReadPosRankSum GT:AD:DP:GQ:PL 0/1:7,11:18:99:360,0,261 -chr1 911109 . T C 773.06 PASS AC=2;AF=1;AN=2;DP=19;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;POSITIVE_TRAIN_SITE;QD=31.31;SOR=0.914;VQSLOD=1.78;culprit=SOR GT:AD:DP:GQ:PL 1/1:0,18:18:54:787,54,0 -chr1 911220 . CT C 398.02 . AC=2;AF=1;AN=2;DP=11;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.45;SOR=0.859 GT:AD:DP:GQ:PL 1/1:0,11:11:33:412,33,0 -chr1 911848 . C T 52.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.253;DP=10;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;POSITIVE_TRAIN_SITE;QD=5.26;ReadPosRankSum=-1.501;SOR=0.693;VQSLOD=6.16;culprit=QD GT:AD:DP:GQ:PL 0/1:8,2:10:60:60,0,327 -chr1 911870 . G A 606.06 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;POSITIVE_TRAIN_SITE;QD=33.27;SOR=0.693;VQSLOD=2.65;culprit=QD GT:AD:DP:GQ:PL 1/1:0,14:14:42:620,42,0 -chr1 912111 . G A 61.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.967;DP=7;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;POSITIVE_TRAIN_SITE;QD=10.27;ReadPosRankSum=-1.834;SOR=0.693;VQSLOD=6.52;culprit=DP GT:AD:DP:GQ:PL 0/1:4,2:6:69:69,0,162 -chr1 912710 . G A 109.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.253;DP=6;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;POSITIVE_TRAIN_SITE;QD=21.93;ReadPosRankSum=-0.674;SOR=1.179;VQSLOD=4.98;culprit=ReadPosRankSum GT:AD:DP:GQ:PL 0/1:2,3:5:72:117,0,72 -chr1 913065 . G A 130.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.111;DP=11;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;POSITIVE_TRAIN_SITE;QD=13.06;ReadPosRankSum=0.418;SOR=0.693;VQSLOD=6.80;culprit=ReadPosRankSum GT:AD:DP:GQ:PL 0/1:6,4:10:99:138,0,237 -chr1 913076 . A G 255.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.615;DP=13;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;POSITIVE_TRAIN_SITE;QD=19.66;ReadPosRankSum=0.004;SOR=0.941;VQSLOD=6.15;culprit=ReadPosRankSum GT:AD:DP:GQ:PL 0/1:6,7:13:99:263,0,231 -chr1 913086 . C T 40.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.098;DP=13;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.13;ReadPosRankSum=-0.496;SOR=0.551;VQSLOD=5.40;culprit=ReadPosRankSum GT:AD:DP:GQ:PL 0/1:11,2:13:48:48,0,448 -chr1 913274 . TG T 170.60 . AC=1;AF=0.5;AN=2;BaseQRankSum=1.616;DP=12;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=0.628;SOR=0.307 GT:AD:DP:GQ:PL 0/1:6,6:12:99:178,0,177 -chr1 913337 . C T 34.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.728;DP=16;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.31;ReadPosRankSum=-0.426;SOR=0.569;VQSLOD=4.90;culprit=QD GT:AD:DP:GQ:PL 0/1:13,2:15:42:42,0,515 -chr1 913358 . C T 211.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.158;DP=14;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;POSITIVE_TRAIN_SITE;QD=16.28;ReadPosRankSum=0.98;SOR=0.495;VQSLOD=6.51;culprit=QD GT:AD:DP:GQ:PL 0/1:7,6:13:99:219,0,264 -chr1 913870 . CCG C 52.60 . AC=1;AF=0.5;AN=2;BaseQRankSum=0.493;DP=13;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.26;ReadPosRankSum=1.221;SOR=0.693 GT:AD:DP:GQ:PL 0/1:8,2:10:60:60,0,330 -chr1 914618 . A G 383.05 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;POSITIVE_TRAIN_SITE;QD=31.26;SOR=0.892;VQSLOD=1.84;culprit=DP GT:AD:DP:GQ:PL 1/1:0,9:9:27:397,27,0 -chr1 915810 . G A 394.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.428;DP=16;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;POSITIVE_TRAIN_SITE;QD=24.66;ReadPosRankSum=2.013;SOR=1.085;VQSLOD=8.25;culprit=QD GT:AD:DP:GQ:PL 0/1:6,10:16:99:402,0,222 -chr1 915824 . G C 534.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.967;DP=20;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;POSITIVE_TRAIN_SITE;QD=26.73;ReadPosRankSum=0.537;SOR=0.693;VQSLOD=6.82;culprit=ReadPosRankSum GT:AD:DP:GQ:PL 0/1:6,14:20:99:542,0,210 -chr1 916119 . A G 207.96 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;POSITIVE_TRAIN_SITE;QD=27.76;SOR=1.981;VQSLOD=0.099;culprit=SOR GT:AD:DP:GQ:PL 1/1:0,5:5:15:222,15,0 -chr1 916377 . A G 166.14 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.09;SOR=0.693;VQSLOD=0.150;culprit=SOR GT:AD:DP:GQ:PL 1/1:0,4:4:12:180,12,0 -chr1 916657 . G A 519.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.709;DP=18;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;POSITIVE_TRAIN_SITE;QD=30.57;ReadPosRankSum=1.759;SOR=0.836;VQSLOD=7.74;culprit=ReadPosRankSum GT:AD:DP:GQ:PL 0/1:4,13:17:99:527,0,126 -chr1 916683 . G A 349.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.068;DP=16;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;POSITIVE_TRAIN_SITE;QD=23.31;ReadPosRankSum=0.806;SOR=0.892;VQSLOD=7.17;culprit=QD GT:AD:DP:GQ:PL 0/1:6,9:15:99:357,0,210 -chr1 916753 . C T 518.06 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;POSITIVE_TRAIN_SITE;QD=26.08;SOR=1.022;VQSLOD=0.910;culprit=QD GT:AD:DP:GQ:PL 1/1:0,12:12:36:532,36,0 -chr1 917284 . C T 162.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.335;DP=11;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;POSITIVE_TRAIN_SITE;QD=14.79;ReadPosRankSum=2.042;SOR=1.022;VQSLOD=7.59;culprit=QD GT:AD:DP:GQ:PL 0/1:6,5:11:99:170,0,237 -chr1 917378 . G C 160.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.167;DP=19;ExcessHet=0;FS=2.199;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;POSITIVE_TRAIN_SITE;QD=8.45;ReadPosRankSum=-0.697;SOR=1.565;VQSLOD=15.30;culprit=ReadPosRankSum GT:AD:DP:GQ:PL 0/1:14,5:19:99:168,0,531 -chr1 917495 . C T 504.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.573;DP=22;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;POSITIVE_TRAIN_SITE;QD=22.94;ReadPosRankSum=-0.445;SOR=0.976;VQSLOD=6.71;culprit=ReadPosRankSum GT:AD:DP:GQ:PL 0/1:8,14:22:99:512,0,294 -chr1 917584 . T G 571.06 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;POSITIVE_TRAIN_SITE;QD=33.85;SOR=1.179;VQSLOD=2.39;culprit=QD GT:AD:DP:GQ:PL 1/1:0,13:13:39:585,39,0 -chr1 917859 . A G 166.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2;DP=12;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;POSITIVE_TRAIN_SITE;QD=13.89;ReadPosRankSum=-1.363;SOR=0.76;VQSLOD=5.99;culprit=ReadPosRankSum GT:AD:DP:GQ:PL 0/1:7,5:12:99:174,0,279 -chr1 918443 . C A 154.64 VQSRTrancheBOTH99.90to100.00 AC=1;AF=0.5;AN=2;BaseQRankSum=1.834;DP=7;ExcessHet=0;FS=3.31;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;NEGATIVE_TRAIN_SITE;QD=25.77;ReadPosRankSum=-1.834;SOR=0.105;VQSLOD=-2.608e+01;culprit=SOR GT:AD:DP:GQ:PL 0/1:2,4:6:65:162,0,65 -chr1 918574 . C A 176.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.921;DP=8;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;POSITIVE_TRAIN_SITE;QD=22.08;ReadPosRankSum=-0.135;SOR=0.582;VQSLOD=6.44;culprit=DP GT:AD:DP:GQ:PL 0/1:3,5:8:99:184,0,111 -chr1 918870 . A G 148.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.674;DP=8;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;POSITIVE_TRAIN_SITE;QD=18.58;ReadPosRankSum=-1.133;SOR=0.693;VQSLOD=6.70;culprit=ReadPosRankSum GT:AD:DP:GQ:PL 0/1:4,4:8:99:156,0,153 -chr1 918888 . T C 53.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.18;DP=9;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.66;ReadPosRankSum=1.18;SOR=0.446;VQSLOD=5.03;culprit=DP GT:AD:DP:GQ:PL 0/1:5,2:7:61:61,0,186 -chr1 919297 . A T 42.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.674;DP=9;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.74;ReadPosRankSum=2.1;SOR=0.307;VQSLOD=5.17;culprit=QD GT:AD:DP:GQ:PL 0/1:7,2:9:50:50,0,275 -chr1 919397 . A G 483.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.451;DP=14;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;POSITIVE_TRAIN_SITE;QD=34.55;ReadPosRankSum=1.562;SOR=0.693;VQSLOD=7.21;culprit=QD GT:AD:DP:GQ:PL 0/1:2,12:14:48:491,0,48 -chr1 919598 . A C 295.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.627;DP=19;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;POSITIVE_TRAIN_SITE;QD=15.56;ReadPosRankSum=-1.626;SOR=0.551;VQSLOD=6.99;culprit=ReadPosRankSum GT:AD:DP:GQ:PL 0/1:11,8:19:99:303,0,418 -chr1 919695 . C G 99.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.792;DP=8;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;POSITIVE_TRAIN_SITE;QD=14.23;ReadPosRankSum=0.697;SOR=0.446;VQSLOD=6.09;culprit=DP GT:AD:DP:GQ:PL 0/1:4,3:7:99:107,0,159 -chr1 920719 . T G 253.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.166;DP=18;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;POSITIVE_TRAIN_SITE;QD=14.09;ReadPosRankSum=1.361;SOR=0.765;VQSLOD=7.29;culprit=FS GT:AD:DP:GQ:PL 0/1:11,7:18:99:261,0,441 -chr1 920728 . A G 253.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.907;DP=18;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;POSITIVE_TRAIN_SITE;QD=14.09;ReadPosRankSum=1.361;SOR=0.765;VQSLOD=7.28;culprit=QD GT:AD:DP:GQ:PL 0/1:11,7:18:99:261,0,441 -chr1 921056 . TG T 40.60 . AC=1;AF=0.5;AN=2;BaseQRankSum=0.06;DP=7;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.8;ReadPosRankSum=0.876;SOR=0.446 GT:AD:DP:GQ:PL 0/1:5,2:7:48:48,0,146 -chr1 921096 . A G 101.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.385;DP=6;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;POSITIVE_TRAIN_SITE;QD=16.94;ReadPosRankSum=1.036;SOR=0.693;VQSLOD=6.44;culprit=QD GT:AD:DP:GQ:PL 0/1:3,3:6:99:109,0,104 -chr1 922226 . C T 61.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.81;ReadPosRankSum=0;SOR=0.446;VQSLOD=4.79;culprit=DP GT:AD:DP:GQ:PL 0/1:5,2:7:69:69,0,204 -chr1 922348 . T G 360.67 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.036;DP=10;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;POSITIVE_TRAIN_SITE;QD=27.08;ReadPosRankSum=-1.645;SOR=0.525;VQSLOD=5.95;culprit=ReadPosRankSum GT:AD:DP:GQ:PL 0/1:1,9:10:12:368,0,12 -chr1 922660 . C A 100.84 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;POSITIVE_TRAIN_SITE;QD=33.61;SOR=1.179;VQSLOD=1.35;culprit=QD GT:AD:DP:GQ:PL 1/1:0,3:3:9:114,9,0 -chr1 922671 . C T 121.84 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;POSITIVE_TRAIN_SITE;QD=25.42;SOR=1.179;VQSLOD=0.874;culprit=QD GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 -chr1 924024 . C G 301.02 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.65;SOR=0.941;VQSLOD=-1.939e-01;culprit=DP GT:AD:DP:GQ:PL 1/1:0,7:7:21:315,21,0 -chr1 924305 . G A 103.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=10;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=2.369;SOR=1.034;VQSLOD=6.98;culprit=QD GT:AD:DP:GQ:PL 0/1:5,3:8:99:111,0,201 -chr1 924310 . C G 391.05 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.48;SOR=0.892;VQSLOD=0.682;culprit=DP GT:AD:DP:GQ:PL 1/1:0,9:9:27:405,27,0 -chr1 924314 . C A 100.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=12;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.18;ReadPosRankSum=2.515;SOR=1.179;VQSLOD=6.66;culprit=QD GT:AD:DP:GQ:PL 0/1:6,3:9:99:108,0,243 -chr1 924321 . C G 551.06 PASS AC=2;AF=1;AN=2;DP=15;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.56;SOR=0.836;VQSLOD=1.22;culprit=SOR GT:AD:DP:GQ:PL 1/1:0,13:13:39:565,39,0 -chr1 924533 . A G 1081.06 PASS AC=2;AF=1;AN=2;DP=25;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.63;SOR=0.941;VQSLOD=1.94;culprit=QD GT:AD:DP:GQ:PL 1/1:0,25:25:75:1095,75,0 -chr1 925036 . G A 112.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.842;DP=6;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;POSITIVE_TRAIN_SITE;QD=22.53;ReadPosRankSum=-1.036;SOR=1.179;VQSLOD=5.04;culprit=ReadPosRankSum GT:AD:DP:GQ:PL 0/1:2,3:5:66:120,0,66 -chr1 925081 . G A 110.84 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;POSITIVE_TRAIN_SITE;QD=30.55;SOR=1.179;VQSLOD=1.70;culprit=SOR GT:AD:DP:GQ:PL 1/1:0,3:3:9:124,9,0 -chr1 925628 . G C 166.14 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;POSITIVE_TRAIN_SITE;QD=32.62;SOR=0.693;VQSLOD=2.22;culprit=FS GT:AD:DP:GQ:PL 1/1:0,4:4:12:180,12,0 -chr1 926250 . G A 238.65 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.465;DP=7;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;POSITIVE_TRAIN_SITE;QD=34.09;ReadPosRankSum=1.465;SOR=0.223;VQSLOD=5.77;culprit=DP GT:AD:DP:GQ:PL 0/1:1,6:7:15:246,0,15 -chr1 926428 . A G 346.04 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;POSITIVE_TRAIN_SITE;QD=29.33;SOR=1.179;VQSLOD=1.95;culprit=DP GT:AD:DP:GQ:PL 1/1:0,8:8:24:360,24,0 -chr1 926713 . T C 121.84 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;POSITIVE_TRAIN_SITE;QD=35.36;SOR=1.179;VQSLOD=3.08;culprit=QD GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 -chr1 926744 . A G 78.32 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;POSITIVE_TRAIN_SITE;QD=34.3;SOR=0.693;VQSLOD=1.58;culprit=FS GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 927003 . C T 121.84 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;POSITIVE_TRAIN_SITE;QD=27;SOR=1.179;VQSLOD=0.832;culprit=QD GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 -chr1 927009 . A G 121.84 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;POSITIVE_TRAIN_SITE;QD=30.82;SOR=1.179;VQSLOD=2.46;culprit=SOR GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 -chr1 927443 . C T 55.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=9;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.18;ReadPosRankSum=-0.812;SOR=0.495;VQSLOD=4.60;culprit=ReadPosRankSum GT:AD:DP:GQ:PL 0/1:7,2:9:63:63,0,288 -chr1 927486 . C T 129.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.623;DP=14;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;POSITIVE_TRAIN_SITE;QD=12.96;ReadPosRankSum=-0.006;SOR=0.307;VQSLOD=6.44;culprit=ReadPosRankSum GT:AD:DP:GQ:PL 0/1:6,4:10:99:137,0,237 -chr1 927744 . G T 475.06 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;POSITIVE_TRAIN_SITE;QD=29.27;SOR=0.859;VQSLOD=4.03;culprit=DP GT:AD:DP:GQ:PL 1/1:0,11:11:33:489,33,0 -chr1 928622 . G C 113.84 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;POSITIVE_TRAIN_SITE;QD=35.92;SOR=1.179;VQSLOD=1.65;culprit=QD GT:AD:DP:GQ:PL 1/1:0,3:3:9:127,9,0 -chr1 929346 . T A 121.84 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;POSITIVE_TRAIN_SITE;QD=29.63;SOR=1.179;VQSLOD=1.74;culprit=SOR GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 -chr1 929375 . A G 121.84 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;POSITIVE_TRAIN_SITE;QD=28.76;SOR=1.179;VQSLOD=1.75;culprit=SOR GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 -chr1 929377 . G A 121.84 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;POSITIVE_TRAIN_SITE;QD=29.94;SOR=1.179;VQSLOD=2.33;culprit=SOR GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 -chr1 930939 . G A 78.32 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;POSITIVE_TRAIN_SITE;QD=31.54;SOR=0.693;VQSLOD=2.34;culprit=SOR GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 931513 . T C 70.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.431;DP=3;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;POSITIVE_TRAIN_SITE;QD=23.55;ReadPosRankSum=-0.967;SOR=0.223;VQSLOD=5.74;culprit=ReadPosRankSum GT:AD:DP:GQ:PL 0/1:1,2:3:36:78,0,36 -chr1 931540 . A G 160.14 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;POSITIVE_TRAIN_SITE;QD=28.86;SOR=0.693;VQSLOD=0.688;culprit=SOR GT:AD:DP:GQ:PL 1/1:0,4:4:12:174,12,0 -chr1 931558 . G A 101.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;POSITIVE_TRAIN_SITE;QD=16.94;ReadPosRankSum=-0.598;SOR=0.693;VQSLOD=7.06;culprit=ReadPosRankSum GT:AD:DP:GQ:PL 0/1:3,3:6:99:109,0,108 -chr1 932255 . C T 100.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.036;DP=5;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;POSITIVE_TRAIN_SITE;QD=20.13;ReadPosRankSum=1.036;SOR=1.179;VQSLOD=6.13;culprit=QD GT:AD:DP:GQ:PL 0/1:2,3:5:69:108,0,69 -chr1 932512 . G A 73.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.967;DP=3;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.55;ReadPosRankSum=0.967;SOR=0.223;VQSLOD=4.38;culprit=SOR GT:AD:DP:GQ:PL 0/1:1,2:3:33:81,0,33 -chr1 932613 . GTTTC G 78.28 . AC=2;AF=1;AN=2;DP=4;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=29.41;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 933511 . A G 78.32 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;POSITIVE_TRAIN_SITE;QD=31.11;SOR=0.693;VQSLOD=1.43;culprit=SOR GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 933548 . A AG 50.28 . AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=25.14;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:62,6,0 -chr1 936972 . G C 166.14 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;POSITIVE_TRAIN_SITE;QD=34.66;SOR=0.693;VQSLOD=1.71;culprit=QD GT:AD:DP:GQ:PL 1/1:0,4:4:12:180,12,0 -chr1 938222 . G A 75.32 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=29.4;SOR=0.693;VQSLOD=0.936;culprit=SOR GT:AD:DP:GQ:PL 1/1:0,2:2:6:87,6,0 -chr1 939038 . A C 78.32 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=36.76;SOR=0.693;VQSLOD=-1.029e-01;culprit=QD GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 939864 . G A 56.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.967;DP=6;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.44;ReadPosRankSum=0;SOR=0.693;VQSLOD=4.80;culprit=ReadPosRankSum GT:AD:DP:GQ:PL 0/1:4,2:6:64:64,0,162 -chr1 941119 . A G 72.32 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;POSITIVE_TRAIN_SITE;QD=30.54;SOR=0.693;VQSLOD=1.43;culprit=SOR GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 -chr1 941767 . G A 133.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.967;DP=12;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;POSITIVE_TRAIN_SITE;QD=11.14;ReadPosRankSum=0.327;SOR=0.693;VQSLOD=7.67;culprit=ReadPosRankSum GT:AD:DP:GQ:PL 0/1:8,4:12:99:141,0,324 -chr1 942335 . C G 78.32 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;POSITIVE_TRAIN_SITE;QD=21.53;SOR=0.693;VQSLOD=0.179;culprit=QD GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 942451 . T C 210.96 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.87;SOR=1.981;VQSLOD=-9.827e-01;culprit=SOR GT:AD:DP:GQ:PL 1/1:0,5:5:15:225,15,0 -chr1 944296 . G A 4387.06 PASS AC=2;AF=1;AN=2;BaseQRankSum=3.17;DP=106;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=57.31;MQRankSum=-0.984;NEGATIVE_TRAIN_SITE;POSITIVE_TRAIN_SITE;QD=31.04;ReadPosRankSum=-2.403;SOR=0.836;VQSLOD=-1.119e+01;culprit=DP GT:AD:DP:GQ:PL 1/1:2,103:105:99:4401,249,0 -chr1 944307 . T C 4626.06 PASS AC=2;AF=1;AN=2;DP=107;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=57.33;NEGATIVE_TRAIN_SITE;POSITIVE_TRAIN_SITE;QD=27.86;SOR=0.77;VQSLOD=-5.494e+00;culprit=DP GT:AD:DP:GQ:PL 1/1:0,106:106:99:4640,319,0 -chr1 944858 . A G 166.14 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;POSITIVE_TRAIN_SITE;QD=34.17;SOR=0.693;VQSLOD=2.03;culprit=QD GT:AD:DP:GQ:PL 1/1:0,4:4:12:180,12,0 -chr1 945259 . TC T 52.60 . AC=1;AF=0.5;AN=2;BaseQRankSum=-1.645;DP=5;ExcessHet=0;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.52;ReadPosRankSum=-1.282;SOR=2.245 GT:AD:DP:GQ:PL 0/1:3,2:5:60:60,0,97 -chr1 945827 . A T 52.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.493;DP=10;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.26;ReadPosRankSum=-2.287;SOR=0.368;VQSLOD=5.02;culprit=QD GT:AD:DP:GQ:PL 0/1:8,2:10:60:60,0,308 -chr1 946247 . G A 61.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=49.02;MQRankSum=-0.967;POSITIVE_TRAIN_SITE;QD=10.27;ReadPosRankSum=-1.834;SOR=0.693;VQSLOD=11.57;culprit=DP GT:AD:DP:GQ:PL 0/1:4,2:6:69:69,0,146 -chr1 946538 . G A 44.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=52.35;MQRankSum=-1.834;NEGATIVE_TRAIN_SITE;POSITIVE_TRAIN_SITE;QD=7.44;ReadPosRankSum=-1.834;SOR=0.693;VQSLOD=-1.303e+01;culprit=MQRankSum GT:AD:DP:GQ:PL 0/1:4,2:6:52:52,0,162 -chr1 947371 . T C 64.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.431;DP=6;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.77;ReadPosRankSum=-1.834;SOR=0.223;VQSLOD=4.44;culprit=SOR GT:AD:DP:GQ:PL 0/1:4,2:6:72:72,0,159 -chr1 947423 . A G 343.04 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;POSITIVE_TRAIN_SITE;QD=28.6;SOR=1.179;VQSLOD=2.54;culprit=DP GT:AD:DP:GQ:PL 1/1:0,8:8:24:357,24,0 -chr1 948711 . C G 210.96 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.57;SOR=1.022;VQSLOD=4.03;culprit=QD GT:AD:DP:GQ:PL 1/1:0,5:5:15:225,15,0 -chr1 949171 . GAGAA G 112.60 . AC=1;AF=0.5;AN=2;BaseQRankSum=-0.524;DP=7;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.52;ReadPosRankSum=-1.645;SOR=1.179 GT:AD:DP:GQ:PL 0/1:2,3:5:75:120,0,75 -chr1 949435 . A G 166.14 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;POSITIVE_TRAIN_SITE;QD=33.11;SOR=0.693;VQSLOD=2.45;culprit=QD GT:AD:DP:GQ:PL 1/1:0,4:4:12:180,12,0 -chr1 949628 . C A 51.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.524;DP=6;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.61;ReadPosRankSum=0.524;SOR=0.693;VQSLOD=5.09;culprit=QD GT:AD:DP:GQ:PL 0/1:4,2:6:59:59,0,155 -chr1 950319 . A G 78.32 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=30.2;SOR=0.693;VQSLOD=0.798;culprit=SOR GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 952421 . A G 121.84 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=47.77;POSITIVE_TRAIN_SITE;QD=30.49;SOR=1.179;VQSLOD=0.905;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 -chr1 953259 . T C 196.97 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=49.79;POSITIVE_TRAIN_SITE;QD=32.83;SOR=1.329;VQSLOD=-8.136e-01;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,6:6:18:211,18,0 -chr1 953279 . T C 186.96 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=47.48;NEGATIVE_TRAIN_SITE;POSITIVE_TRAIN_SITE;QD=31.67;SOR=1.981;VQSLOD=-2.514e+00;culprit=MQ GT:AD:DP:GQ:PL 1/1:0,5:5:15:201,15,0 -chr1 953778 . G C 78.32 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;POSITIVE_TRAIN_SITE;QD=29.53;SOR=2.303;VQSLOD=0.390;culprit=SOR GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 953779 . A C 78.32 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;POSITIVE_TRAIN_SITE;QD=32.63;SOR=2.303;VQSLOD=0.786;culprit=SOR GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 954258 . G C 463.06 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;POSITIVE_TRAIN_SITE;QD=30.36;SOR=0.859;VQSLOD=1.57;culprit=SOR GT:AD:DP:GQ:PL 1/1:0,11:11:33:477,33,0 -chr1 954333 . C A 652.06 PASS AC=2;AF=1;AN=2;DP=17;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;POSITIVE_TRAIN_SITE;QD=28.13;SOR=0.941;VQSLOD=1.67;culprit=SOR GT:AD:DP:GQ:PL 1/1:0,16:16:48:666,48,0 -chr1 954574 . A G 166.14 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.97;SOR=0.693;VQSLOD=-2.493e-01;culprit=QD GT:AD:DP:GQ:PL 1/1:0,4:4:12:180,12,0 -chr1 954827 . GA G 52.80 . AC=2;AF=1;AN=2;DP=6;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=17.6;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,3:3:9:66,9,0 -chr1 955384 . C T 37.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.588;DP=17;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.51;ReadPosRankSum=1.96;SOR=0.569;VQSLOD=6.17;culprit=QD GT:AD:DP:GQ:PL 0/1:13,2:15:45:45,0,537 -chr1 955641 . G A 266.02 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;POSITIVE_TRAIN_SITE;QD=28.31;SOR=0.941;VQSLOD=1.45;culprit=DP GT:AD:DP:GQ:PL 1/1:0,7:7:21:280,21,0 -chr1 955679 . C T 112.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;POSITIVE_TRAIN_SITE;QD=22.53;ReadPosRankSum=1.645;SOR=1.179;VQSLOD=6.53;culprit=QD GT:AD:DP:GQ:PL 0/1:2,3:5:75:120,0,75 -chr1 956565 . A G 154.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.967;DP=6;ExcessHet=0;FS=3.31;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;NEGATIVE_TRAIN_SITE;POSITIVE_TRAIN_SITE;QD=25.77;ReadPosRankSum=0;SOR=0.105;VQSLOD=-9.397e+00;culprit=SOR GT:AD:DP:GQ:PL 0/1:2,4:6:62:162,0,62 -chr1 957365 . G A 501.06 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;POSITIVE_TRAIN_SITE;QD=35.21;SOR=0.693;VQSLOD=1.16;culprit=QD GT:AD:DP:GQ:PL 1/1:0,12:12:36:515,36,0 -chr1 957900 . G A 471.06 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;POSITIVE_TRAIN_SITE;QD=35.18;SOR=0.859;VQSLOD=3.09;culprit=QD GT:AD:DP:GQ:PL 1/1:0,11:11:33:485,33,0 -chr1 959193 . G A 121.84 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;POSITIVE_TRAIN_SITE;QD=29.59;SOR=1.179;VQSLOD=1.89;culprit=SOR GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 -chr1 960891 . C T 121.84 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=32.25;SOR=1.179;VQSLOD=0.741;culprit=SOR GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 -chr1 961096 . A G 274.02 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;POSITIVE_TRAIN_SITE;QD=34.86;SOR=0.941;VQSLOD=1.61;culprit=DP GT:AD:DP:GQ:PL 1/1:0,7:7:21:288,21,0 -chr1 961945 . G C 1100.06 PASS AC=2;AF=1;AN=2;DP=26;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;POSITIVE_TRAIN_SITE;QD=32.49;SOR=0.941;VQSLOD=4.68;culprit=QD GT:AD:DP:GQ:PL 1/1:0,25:25:75:1114,75,0 -chr1 962001 . T A 37.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.198;DP=14;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.69;ReadPosRankSum=1.923;SOR=0.446;VQSLOD=5.53;culprit=QD GT:AD:DP:GQ:PL 0/1:12,2:14:45:45,0,490 -chr1 962184 . T C 335.04 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;POSITIVE_TRAIN_SITE;QD=29.05;SOR=1.179;VQSLOD=2.05;culprit=DP GT:AD:DP:GQ:PL 1/1:0,8:8:24:349,24,0 -chr1 962943 . T C 78.32 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;POSITIVE_TRAIN_SITE;QD=31.88;SOR=0.693;VQSLOD=1.94;culprit=SOR GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 964218 . C G 49.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.842;DP=5;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.93;ReadPosRankSum=0.524;SOR=0.368;VQSLOD=4.76;culprit=ReadPosRankSum GT:AD:DP:GQ:PL 0/1:3,2:5:57:57,0,120 -chr1 965125 . G C 645.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.623;DP=30;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;POSITIVE_TRAIN_SITE;QD=21.52;ReadPosRankSum=-0.168;SOR=0.665;VQSLOD=7.64;culprit=QD GT:AD:DP:GQ:PL 0/1:13,17:30:99:653,0,478 -chr1 965337 . CTTAT C 598.60 . AC=1;AF=0.5;AN=2;BaseQRankSum=0.423;DP=24;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=26.03;ReadPosRankSum=0.876;SOR=0.818 GT:AD:DP:GQ:PL 0/1:8,15:23:99:606,0,270 -chr1 965350 . G A 965.06 PASS AC=2;AF=1;AN=2;DP=23;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;POSITIVE_TRAIN_SITE;QD=30.31;SOR=0.693;VQSLOD=3.06;culprit=SOR GT:AD:DP:GQ:PL 1/1:0,22:22:66:979,66,0 -chr1 965592 . T G 918.06 PASS AC=2;AF=1;AN=2;DP=24;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;POSITIVE_TRAIN_SITE;QD=29.84;SOR=0.784;VQSLOD=3.50;culprit=SOR GT:AD:DP:GQ:PL 1/1:0,21:21:63:932,63,0 -chr1 965643 . T C 918.06 PASS AC=2;AF=1;AN=2;DP=21;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;POSITIVE_TRAIN_SITE;QD=28.8;SOR=0.784;VQSLOD=2.05;culprit=QD GT:AD:DP:GQ:PL 1/1:0,21:21:63:932,63,0 -chr1 965666 . ACC A 250.60 . AC=1;AF=0.5;AN=2;BaseQRankSum=0.266;DP=20;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.19;ReadPosRankSum=-1.229;SOR=0.941 GT:AD:DP:GQ:PL 0/1:12,7:19:99:258,0,482 -chr1 966179 . G A 75.32 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;POSITIVE_TRAIN_SITE;QD=29.95;SOR=0.693;VQSLOD=1.59;culprit=SOR GT:AD:DP:GQ:PL 1/1:0,2:2:6:87,6,0 -chr1 966227 . C G 166.14 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;POSITIVE_TRAIN_SITE;QD=30.22;SOR=0.693;VQSLOD=1.74;culprit=SOR GT:AD:DP:GQ:PL 1/1:0,4:4:12:180,12,0 -chr1 966272 . A G 166.14 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;POSITIVE_TRAIN_SITE;QD=29.85;SOR=0.693;VQSLOD=1.42;culprit=SOR GT:AD:DP:GQ:PL 1/1:0,4:4:12:180,12,0 -chr1 966665 . T C 78.32 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=31.18;SOR=0.693;VQSLOD=-4.750e-02;culprit=SOR GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 966770 . C T 70.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.66;ReadPosRankSum=1.383;SOR=0.693;VQSLOD=5.42;culprit=QD GT:AD:DP:GQ:PL 0/1:2,2:4:78:78,0,78 -chr1 967376 . AC A 166.10 . AC=2;AF=1;AN=2;DP=4;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.65;SOR=1.609 GT:AD:DP:GQ:PL 1/1:0,4:4:12:180,12,0 -chr1 967384 . C G 166.14 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.44;SOR=1.609;VQSLOD=-1.244e+00;culprit=SOR GT:AD:DP:GQ:PL 1/1:0,4:4:12:180,12,0 -chr1 968841 . T C 70.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.66;ReadPosRankSum=1.383;SOR=0.693;VQSLOD=5.65;culprit=QD GT:AD:DP:GQ:PL 0/1:2,2:4:78:78,0,78 -chr1 969377 . A ATG 193.92 . AC=2;AF=1;AN=2;DP=5;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.95;SOR=1.022 GT:AD:DP:GQ:PL 1/1:0,5:5:15:208,15,0 -chr1 969663 . CAT C 78.28 . AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=33.53;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 970005 . G A 52.64 VQSRTrancheBOTH99.90to100.00 AC=1;AF=0.5;AN=2;BaseQRankSum=-0.674;DP=4;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=53.11;MQRankSum=0.674;NEGATIVE_TRAIN_SITE;QD=13.16;ReadPosRankSum=-1.383;SOR=0.105;VQSLOD=-3.956e+01;culprit=MQRankSum GT:AD:DP:GQ:PL 0/1:2,2:4:60:60,0,60 -chr1 970874 . C G 62.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.967;DP=3;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.88;ReadPosRankSum=-0.967;SOR=0.223;VQSLOD=4.11;culprit=ReadPosRankSum GT:AD:DP:GQ:PL 0/1:1,2:3:36:70,0,36 -chr1 971513 . G A 62.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.967;DP=3;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.88;ReadPosRankSum=-0.967;SOR=0.223;VQSLOD=4.13;culprit=ReadPosRankSum GT:AD:DP:GQ:PL 0/1:1,2:3:36:70,0,36 -chr1 973929 . T C 70.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;POSITIVE_TRAIN_SITE;QD=17.66;ReadPosRankSum=0;SOR=0.693;VQSLOD=6.12;culprit=ReadPosRankSum GT:AD:DP:GQ:PL 0/1:2,2:4:78:78,0,78 -chr1 974388 . A G 75.32 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;POSITIVE_TRAIN_SITE;QD=36.33;SOR=0.693;VQSLOD=1.73;culprit=QD GT:AD:DP:GQ:PL 1/1:0,2:2:6:87,6,0 -chr1 975447 . T C 65.64 VQSRTrancheBOTH99.90to100.00 AC=1;AF=0.5;AN=2;BaseQRankSum=-0.48;DP=9;ExcessHet=0;FS=2.808;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;NEGATIVE_TRAIN_SITE;QD=7.29;ReadPosRankSum=2.1;SOR=0.959;VQSLOD=-2.298e+01;culprit=FS GT:AD:DP:GQ:PL 0/1:6,3:9:73:73,0,232 -chr1 975492 . GCT G 55.60 . AC=1;AF=0.5;AN=2;BaseQRankSum=-0.469;DP=9;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.18;ReadPosRankSum=-0.282;SOR=0.495 GT:AD:DP:GQ:PL 0/1:7,2:9:63:63,0,288 -chr1 975523 . T C 184.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.097;DP=11;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;POSITIVE_TRAIN_SITE;QD=16.79;ReadPosRankSum=-1.647;SOR=1.022;VQSLOD=5.71;culprit=ReadPosRankSum GT:AD:DP:GQ:PL 0/1:6,5:11:99:192,0,225 -chr1 976215 . A G 205.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.95;DP=20;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;POSITIVE_TRAIN_SITE;QD=11.42;ReadPosRankSum=0.047;SOR=0.446;VQSLOD=6.55;culprit=ReadPosRankSum GT:AD:DP:GQ:PL 0/1:12,6:18:99:213,0,451 -chr1 997238 . C G 75.32 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;POSITIVE_TRAIN_SITE;QD=32.31;SOR=2.303;VQSLOD=0.483;culprit=SOR GT:AD:DP:GQ:PL 1/1:0,2:2:6:87,6,0 -chr1 997987 . G A 57.32 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=28.66;SOR=0.693;VQSLOD=0.749;culprit=QD GT:AD:DP:GQ:PL 1/1:0,2:2:6:69,6,0 -chr1 998935 . CA C 48.60 . AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.72;ReadPosRankSum=1.645;SOR=0.368 GT:AD:DP:GQ:PL 0/1:3,2:5:56:56,0,92 -chr1 999005 . G A 1722.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.144;DP=108;ExcessHet=0;FS=2.549;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;NEGATIVE_TRAIN_SITE;POSITIVE_TRAIN_SITE;QD=16.1;ReadPosRankSum=2.266;SOR=0.991;VQSLOD=0.719;culprit=DP GT:AD:DP:GQ:PL 0/1:61,46:107:99:1730,0,2390 -chr1 999842 . C A 1435.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.635;DP=52;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;POSITIVE_TRAIN_SITE;QD=30.55;ReadPosRankSum=-0.162;SOR=0.614;VQSLOD=9.24;culprit=DP GT:AD:DP:GQ:PL 0/1:9,38:47:99:1443,0,191 -chr1 1000079 . A G 3879.06 PASS AC=2;AF=1;AN=2;DP=90;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;NEGATIVE_TRAIN_SITE;QD=34.29;SOR=0.887;VQSLOD=-1.921e+00;culprit=DP GT:AD:DP:GQ:PL 1/1:0,88:88:99:3893,265,0 -chr1 1000112 . G T 740.06 PASS AC=2;AF=1;AN=2;DP=29;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;POSITIVE_TRAIN_SITE;QD=30.05;SOR=0.914;VQSLOD=3.62;culprit=SOR GT:AD:DP:GQ:PL 1/1:0,18:18:54:754,54,0 -chr1 1000335 . C T 501.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.859;DP=29;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.92;ReadPosRankSum=-1.474;SOR=0.976;VQSLOD=6.70;culprit=ReadPosRankSum GT:AD:DP:GQ:PL 0/1:14,14:28:99:509,0,542 -chr1 1000453 . C G 1393.06 PASS AC=2;AF=1;AN=2;BaseQRankSum=3.36;DP=37;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;POSITIVE_TRAIN_SITE;QD=33.3;ReadPosRankSum=-2.311;SOR=1.022;VQSLOD=7.55;culprit=FS GT:AD:DP:GQ:PL 1/1:2,33:35:54:1407,54,0 -chr1 1000731 . C T 957.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.267;DP=51;ExcessHet=0;FS=1.082;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;POSITIVE_TRAIN_SITE;QD=18.78;ReadPosRankSum=0.217;SOR=0.481;VQSLOD=9.28;culprit=DP GT:AD:DP:GQ:PL 0/1:24,27:51:99:965,0,913 -chr1 1000814 . A G 1479.06 PASS AC=2;AF=1;AN=2;DP=34;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;POSITIVE_TRAIN_SITE;QD=31.74;SOR=1.085;VQSLOD=5.66;culprit=DP GT:AD:DP:GQ:PL 1/1:0,34:34:99:1493,102,0 -chr1 1000830 . C A 668.06 PASS AC=2;AF=1;AN=2;DP=18;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;POSITIVE_TRAIN_SITE;QD=28.66;SOR=0.941;VQSLOD=1.98;culprit=SOR GT:AD:DP:GQ:PL 1/1:0,16:16:48:682,48,0 -chr1 1001107 . C G 78.32 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;POSITIVE_TRAIN_SITE;QD=25.41;SOR=0.693;VQSLOD=2.52;culprit=QD GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 1002308 . T C 78.32 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;POSITIVE_TRAIN_SITE;QD=28.5;SOR=0.693;VQSLOD=3.62;culprit=QD GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 1009083 . A G 70.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.66;ReadPosRankSum=-1.383;SOR=0.693;VQSLOD=4.78;culprit=ReadPosRankSum GT:AD:DP:GQ:PL 0/1:2,2:4:78:78,0,78 -chr1 1012158 . C T 189.96 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;POSITIVE_TRAIN_SITE;QD=35.19;SOR=1.022;VQSLOD=2.25;culprit=QD GT:AD:DP:GQ:PL 1/1:0,5:5:15:204,15,0 -chr1 1012809 . T C 78.32 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=30.73;SOR=0.693;VQSLOD=1.74;culprit=SOR GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 1012810 . T C 78.32 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=26.72;SOR=0.693;VQSLOD=1.51;culprit=QD GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 1013312 . G A 118.84 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;POSITIVE_TRAIN_SITE;QD=24.84;SOR=1.179;VQSLOD=4.15;culprit=QD GT:AD:DP:GQ:PL 1/1:0,3:3:9:132,9,0 -chr1 1013466 . T TA 166.10 . AC=2;AF=1;AN=2;DP=4;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.31;SOR=1.609 GT:AD:DP:GQ:PL 1/1:0,4:4:12:180,12,0 -chr1 1013490 . C G 174.96 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;POSITIVE_TRAIN_SITE;QD=34.99;SOR=1.022;VQSLOD=1.25;culprit=QD GT:AD:DP:GQ:PL 1/1:0,5:5:15:189,15,0 -chr1 1013541 . T C 2147.06 PASS AC=2;AF=1;AN=2;DP=53;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;POSITIVE_TRAIN_SITE;QD=32.86;SOR=4.493;VQSLOD=17.13;culprit=DP GT:AD:DP:GQ:PL 1/1:0,50:50:99:2161,150,0 -chr1 1013855 . G A 376.05 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;POSITIVE_TRAIN_SITE;QD=27.73;SOR=0.892;VQSLOD=1.74;culprit=QD GT:AD:DP:GQ:PL 1/1:0,9:9:27:390,27,0 -chr1 1014228 . G A 2184.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.064;DP=366;ExcessHet=0;FS=1.003;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;POSITIVE_TRAIN_SITE;QD=6.33;ReadPosRankSum=0.404;SOR=0.762;VQSLOD=78.28;culprit=QD GT:AD:DP:GQ:PL 0/1:271,74:345:99:2192,0,10936 -chr1 1014274 . A G 13015.10 PASS AC=2;AF=1;AN=2;DP=303;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;POSITIVE_TRAIN_SITE;QD=29.05;SOR=0.727;VQSLOD=30.25;culprit=SOR GT:AD:DP:GQ:PL 1/1:0,295:295:99:13029,887,0 -chr1 1014545 . C T 155.14 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;POSITIVE_TRAIN_SITE;QD=27.64;SOR=1.609;VQSLOD=0.549;culprit=SOR GT:AD:DP:GQ:PL 1/1:0,4:4:12:169,12,0 -chr1 1019636 . A G 78.32 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=29.35;SOR=0.693;VQSLOD=0.335;culprit=SOR GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 1019833 . T C 78.32 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=29.21;SOR=2.303;VQSLOD=-9.881e-01;culprit=SOR GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 1020217 . G T 1545.06 PASS AC=2;AF=1;AN=2;DP=36;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.06;SOR=0.804;VQSLOD=3.38;culprit=DP GT:AD:DP:GQ:PL 1/1:0,36:36:99:1559,108,0 -chr1 1021740 . G C 255.97 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;POSITIVE_TRAIN_SITE;QD=27.08;SOR=1.329;VQSLOD=2.01;culprit=SOR GT:AD:DP:GQ:PL 1/1:0,6:6:18:270,18,0 -chr1 1026830 . A G 75.32 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;POSITIVE_TRAIN_SITE;QD=24.8;SOR=0.693;VQSLOD=1.20;culprit=QD GT:AD:DP:GQ:PL 1/1:0,2:2:6:87,6,0 -chr1 1031917 . C A 78.32 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=26.1;SOR=0.693;VQSLOD=0.255;culprit=QD GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 1035987 . T C 118.84 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;POSITIVE_TRAIN_SITE;QD=29.15;SOR=1.179;VQSLOD=3.93;culprit=SOR GT:AD:DP:GQ:PL 1/1:0,3:3:9:132,9,0 -chr1 1036754 . C T 75.32 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;POSITIVE_TRAIN_SITE;QD=31.87;SOR=2.303;VQSLOD=1.18;culprit=SOR GT:AD:DP:GQ:PL 1/1:0,2:2:6:87,6,0 -chr1 1037505 . A G 55.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.549;DP=9;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.18;ReadPosRankSum=-0.282;SOR=0.223;VQSLOD=4.50;culprit=QD GT:AD:DP:GQ:PL 0/1:7,2:9:63:63,0,266 -chr1 1037956 . A G 247.97 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;POSITIVE_TRAIN_SITE;QD=30.57;SOR=0.693;VQSLOD=1.99;culprit=SOR GT:AD:DP:GQ:PL 1/1:0,6:6:18:262,18,0 -chr1 1037997 . G A 301.02 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;POSITIVE_TRAIN_SITE;QD=29.34;SOR=0.941;VQSLOD=1.93;culprit=DP GT:AD:DP:GQ:PL 1/1:0,7:7:21:315,21,0 -chr1 1038078 . C T 210.96 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;POSITIVE_TRAIN_SITE;QD=22.58;SOR=1.022;VQSLOD=-1.467e-01;culprit=FS GT:AD:DP:GQ:PL 1/1:0,5:5:15:225,15,0 -chr1 1038288 . A G 189.96 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;POSITIVE_TRAIN_SITE;QD=34.42;SOR=1.981;VQSLOD=0.894;culprit=SOR GT:AD:DP:GQ:PL 1/1:0,5:5:15:204,15,0 -chr1 1038762 . T C 41.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.139;DP=11;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.79;ReadPosRankSum=2.362;SOR=0.527;VQSLOD=5.96;culprit=QD GT:AD:DP:GQ:PL 0/1:9,2:11:49:49,0,365 -chr1 1038800 . G T 328.04 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;POSITIVE_TRAIN_SITE;QD=28.87;SOR=0.693;VQSLOD=2.45;culprit=DP GT:AD:DP:GQ:PL 1/1:0,8:8:24:342,24,0 -chr1 1038819 . C T 326.04 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;POSITIVE_TRAIN_SITE;QD=29.49;SOR=0.693;VQSLOD=2.01;culprit=DP GT:AD:DP:GQ:PL 1/1:0,8:8:24:340,24,0 -chr1 1038845 . A G 255.97 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;POSITIVE_TRAIN_SITE;QD=28.64;SOR=0.693;VQSLOD=1.24;culprit=DP GT:AD:DP:GQ:PL 1/1:0,6:6:18:270,18,0 -chr1 1038916 . A G 78.32 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;POSITIVE_TRAIN_SITE;QD=31.89;SOR=0.693;VQSLOD=2.04;culprit=QD GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 1039114 . G T 210.96 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;POSITIVE_TRAIN_SITE;QD=39.16;SOR=1.022;VQSLOD=0.999;culprit=QD GT:AD:DP:GQ:PL 1/1:0,5:5:15:225,15,0 -chr1 1039411 . T TG,TGG 231.02 . AC=1,1;AF=0.5,0.5;AN=2;DP=8;ExcessHet=0;FS=0;MLEAC=1,1;MLEAF=0.5,0.5;MQ=60;QD=28.88;SOR=0.693 GT:AD:DP:GQ:PL 1/2:0,4,4:8:90:248,113,90,103,0,91 -chr1 1039514 . C T 78.32 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;POSITIVE_TRAIN_SITE;QD=27.54;SOR=0.693;VQSLOD=3.59;culprit=QD GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 1039753 . T A 75.32 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;POSITIVE_TRAIN_SITE;QD=30.82;SOR=2.303;VQSLOD=-3.006e-01;culprit=SOR GT:AD:DP:GQ:PL 1/1:0,2:2:6:87,6,0 -chr1 1040322 . A G 78.32 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;POSITIVE_TRAIN_SITE;QD=31.57;SOR=0.693;VQSLOD=2.04;culprit=SOR GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 1041492 . G A 526.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.9;DP=18;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=29.26;ReadPosRankSum=-1.968;SOR=0.693;VQSLOD=5.03;culprit=ReadPosRankSum GT:AD:DP:GQ:PL 0/1:4,14:18:99:534,0,126 -chr1 1041950 . T C 72.32 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;POSITIVE_TRAIN_SITE;QD=28.62;SOR=0.693;VQSLOD=1.70;culprit=SOR GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 -chr1 1042190 . G A 78.32 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;POSITIVE_TRAIN_SITE;QD=26.65;SOR=0.693;VQSLOD=1.49;culprit=QD GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 1042767 . AG A 58.60 . AC=1;AF=0.5;AN=2;BaseQRankSum=1.559;DP=9;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.51;ReadPosRankSum=-1.51;SOR=0.593 GT:AD:DP:GQ:PL 0/1:6,3:9:66:66,0,160 -chr1 1043295 . G A 31.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.784;DP=17;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.86;ReadPosRankSum=0.821;SOR=0.582;VQSLOD=5.61;culprit=QD GT:AD:DP:GQ:PL 0/1:15,2:17:39:39,0,577 -chr1 1044368 . A T 34.32 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;NEGATIVE_TRAIN_SITE;POSITIVE_TRAIN_SITE;QD=17.16;SOR=0.693;VQSLOD=-1.456e+00;culprit=QD GT:AD:DP:GQ:PL 1/1:0,2:2:6:46,6,0 -chr1 1045707 . A G 78.32 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;POSITIVE_TRAIN_SITE;QD=31.15;SOR=0.693;VQSLOD=3.34;culprit=SOR GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 1046551 . A G 276.02 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;POSITIVE_TRAIN_SITE;QD=29.71;SOR=0.941;VQSLOD=2.14;culprit=SOR GT:AD:DP:GQ:PL 1/1:0,7:7:21:290,21,0 -chr1 1047064 . A G 446.06 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;POSITIVE_TRAIN_SITE;QD=31.24;SOR=0.859;VQSLOD=4.03;culprit=DP GT:AD:DP:GQ:PL 1/1:0,11:11:33:460,33,0 -chr1 1047082 . T C 220.97 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;POSITIVE_TRAIN_SITE;QD=26.78;SOR=1.329;VQSLOD=1.15;culprit=DP GT:AD:DP:GQ:PL 1/1:0,6:6:18:235,18,0 -chr1 1047133 . T C 163.14 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;POSITIVE_TRAIN_SITE;QD=27.89;SOR=0.693;VQSLOD=2.50;culprit=QD GT:AD:DP:GQ:PL 1/1:0,4:4:12:177,12,0 -chr1 1047233 . T C 58.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.319;DP=8;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.33;ReadPosRankSum=-1.242;SOR=0.693;VQSLOD=4.78;culprit=ReadPosRankSum GT:AD:DP:GQ:PL 0/1:6,2:8:66:66,0,233 -chr1 1047614 . T C 78.32 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;POSITIVE_TRAIN_SITE;QD=32.85;SOR=0.693;VQSLOD=2.52;culprit=QD GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 1048912 . C T 34.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.69;DP=16;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.16;ReadPosRankSum=1.037;SOR=0.693;VQSLOD=5.43;culprit=QD GT:AD:DP:GQ:PL 0/1:14,2:16:42:42,0,570 -chr1 1052857 . ATG A 71.28 . AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=35.74;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:83,6,0 -chr1 1054866 . C G 43.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.012;DP=12;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.64;ReadPosRankSum=0.974;SOR=0.412;VQSLOD=5.15;culprit=QD GT:AD:DP:GQ:PL 0/1:10,2:12:51:51,0,414 -chr1 1055000 . C T 1365.06 PASS AC=2;AF=1;AN=2;DP=33;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;POSITIVE_TRAIN_SITE;QD=28.18;SOR=0.756;VQSLOD=3.78;culprit=FS GT:AD:DP:GQ:PL 1/1:0,31:31:93:1379,93,0 -chr1 1055037 . T C 1111.06 PASS AC=2;AF=1;AN=2;DP=30;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;POSITIVE_TRAIN_SITE;QD=27.65;SOR=0.693;VQSLOD=3.73;culprit=QD GT:AD:DP:GQ:PL 1/1:0,26:26:78:1125,78,0 -chr1 1055137 . C T 1337.06 PASS AC=2;AF=1;AN=2;DP=34;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;POSITIVE_TRAIN_SITE;QD=33.04;SOR=1.022;VQSLOD=4.90;culprit=DP GT:AD:DP:GQ:PL 1/1:0,33:33:98:1351,98,0 -chr1 1055393 . C T 1208.06 PASS AC=2;AF=1;AN=2;DP=31;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;POSITIVE_TRAIN_SITE;QD=30.07;SOR=0.976;VQSLOD=3.44;culprit=DP GT:AD:DP:GQ:PL 1/1:0,30:30:89:1222,89,0 -chr1 1055426 . G A 1002.06 PASS AC=2;AF=1;AN=2;DP=28;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;POSITIVE_TRAIN_SITE;QD=32.19;SOR=0.693;VQSLOD=3.31;culprit=QD GT:AD:DP:GQ:PL 1/1:0,24:24:72:1016,72,0 -chr1 1055604 . G A 2574.06 PASS AC=2;AF=1;AN=2;DP=65;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;POSITIVE_TRAIN_SITE;QD=29.72;SOR=0.793;VQSLOD=2.78;culprit=DP GT:AD:DP:GQ:PL 1/1:0,61:61:99:2588,183,0 -chr1 1063121 . G C 109.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.524;DP=5;ExcessHet=0;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;NEGATIVE_TRAIN_SITE;POSITIVE_TRAIN_SITE;QD=21.93;ReadPosRankSum=-0.524;SOR=2.833;VQSLOD=-1.266e+01;culprit=SOR GT:AD:DP:GQ:PL 0/1:2,3:5:75:117,0,75 -chr1 1066726 . G A 40.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.242;DP=13;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.13;ReadPosRankSum=1.089;SOR=0.551;VQSLOD=5.18;culprit=QD GT:AD:DP:GQ:PL 0/1:11,2:13:48:48,0,436 -chr1 1067007 . A G 46.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.853;DP=36;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;POSITIVE_TRAIN_SITE;QD=1.33;ReadPosRankSum=-2.414;SOR=0.634;VQSLOD=15.30;culprit=QD GT:AD:DP:GQ:PL 0/1:31,4:35:54:54,0,1179 -chr1 1067159 . G A 55.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.985;DP=25;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;POSITIVE_TRAIN_SITE;QD=2.32;ReadPosRankSum=-0.044;SOR=1.061;VQSLOD=6.83;culprit=QD GT:AD:DP:GQ:PL 0/1:21,3:24:63:63,0,842 -chr1 1068165 . G T 55.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.549;DP=9;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.18;ReadPosRankSum=-1.383;SOR=0.495;VQSLOD=4.76;culprit=ReadPosRankSum GT:AD:DP:GQ:PL 0/1:7,2:9:63:63,0,266 -chr1 1068249 . C T 115.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.411;DP=18;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;POSITIVE_TRAIN_SITE;QD=6.42;ReadPosRankSum=-0.16;SOR=0.693;VQSLOD=7.72;culprit=QD GT:AD:DP:GQ:PL 0/1:14,4:18:99:123,0,569 -chr1 1068664 . T C 99.64 VQSRTrancheBOTH99.90to100.00 AC=1;AF=0.5;AN=2;BaseQRankSum=0.668;DP=68;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=56.15;MQRankSum=-0.681;NEGATIVE_TRAIN_SITE;QD=1.47;ReadPosRankSum=-0.242;SOR=0.631;VQSLOD=-1.526e+01;culprit=DP GT:AD:DP:GQ:PL 0/1:61,7:68:99:107,0,2392 -chr1 1068727 . T C 61.64 VQSRTrancheBOTH99.90to100.00 AC=1;AF=0.5;AN=2;BaseQRankSum=0.802;DP=25;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.65;MQRankSum=-4.502;QD=2.8;ReadPosRankSum=-0.672;SOR=0.199;VQSLOD=-1.683e+02;culprit=MQRankSum GT:AD:DP:GQ:PL 0/1:19,3:22:69:69,0,771 -chr1 1068951 . C T 474.06 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;POSITIVE_TRAIN_SITE;QD=32.7;SOR=1.022;VQSLOD=2.11;culprit=QD GT:AD:DP:GQ:PL 1/1:0,12:12:36:488,36,0 -chr1 1071610 . G A 710.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.829;DP=39;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;POSITIVE_TRAIN_SITE;QD=18.7;ReadPosRankSum=2.543;SOR=0.711;VQSLOD=11.10;culprit=DP GT:AD:DP:GQ:PL 0/1:19,19:38:99:718,0,729 -chr1 1071750 . GC G 42.60 . AC=1;AF=0.5;AN=2;BaseQRankSum=-0.086;DP=15;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.84;ReadPosRankSum=1.23;SOR=0.527 GT:AD:DP:GQ:PL 0/1:12,3:15:50:50,0,357 -chr1 1071823 . A G 145.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.847;DP=9;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;POSITIVE_TRAIN_SITE;QD=16.18;ReadPosRankSum=-1.18;SOR=0.446;VQSLOD=6.01;culprit=ReadPosRankSum GT:AD:DP:GQ:PL 0/1:5,4:9:99:153,0,190 -chr1 1071842 . G T 67.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.524;DP=5;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;POSITIVE_TRAIN_SITE;QD=13.53;ReadPosRankSum=-1.036;SOR=0.368;VQSLOD=5.92;culprit=ReadPosRankSum GT:AD:DP:GQ:PL 0/1:3,2:5:75:75,0,120 -chr1 1071872 . C CG 49.28 . AC=2;AF=1;AN=2;DP=3;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=24.64;SOR=2.303 GT:AD:DP:GQ:PL 1/1:0,2:2:6:61,6,0 -chr1 1072067 . G T 37.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.85;DP=16;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.51;ReadPosRankSum=-1.106;SOR=0.569;VQSLOD=4.90;culprit=ReadPosRankSum GT:AD:DP:GQ:PL 0/1:13,2:15:45:45,0,515 -chr1 1074098 . G C 190.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.703;DP=11;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;POSITIVE_TRAIN_SITE;QD=23.83;ReadPosRankSum=-2.369;SOR=0.799;VQSLOD=6.02;culprit=QD GT:AD:DP:GQ:PL 0/1:3,5:8:99:198,0,103 -chr1 1080437 . G A 75.32 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;POSITIVE_TRAIN_SITE;QD=30.01;SOR=0.693;VQSLOD=2.56;culprit=SOR GT:AD:DP:GQ:PL 1/1:0,2:2:6:87,6,0 -chr1 1081961 . G T 326.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.755;DP=22;ExcessHet=0;FS=3.821;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;POSITIVE_TRAIN_SITE;QD=14.85;ReadPosRankSum=-0.132;SOR=1.609;VQSLOD=11.34;culprit=FS GT:AD:DP:GQ:PL 0/1:12,10:22:99:334,0,458 -chr1 1082207 . C T 280.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.335;DP=26;ExcessHet=0;FS=1.718;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;POSITIVE_TRAIN_SITE;QD=11.69;ReadPosRankSum=-2.362;SOR=0.34;VQSLOD=12.36;culprit=FS GT:AD:DP:GQ:PL 0/1:16,8:24:99:288,0,623 -chr1 1085966 . A G 148.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.674;DP=8;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;POSITIVE_TRAIN_SITE;QD=18.58;ReadPosRankSum=-1.133;SOR=0.693;VQSLOD=6.39;culprit=FS GT:AD:DP:GQ:PL 0/1:4,4:8:99:156,0,138 -chr1 1090943 . T C 67.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.645;DP=6;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=0.524;SOR=0.368;VQSLOD=4.70;culprit=ReadPosRankSum GT:AD:DP:GQ:PL 0/1:3,2:5:75:75,0,80 -chr1 1091421 . T A 78.32 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;POSITIVE_TRAIN_SITE;QD=31.66;SOR=0.693;VQSLOD=1.83;culprit=SOR GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 1094198 . C T 197.96 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.68;SOR=1.022;VQSLOD=0.851;culprit=DP GT:AD:DP:GQ:PL 1/1:0,5:5:15:212,15,0 -chr1 1095185 . C T 52.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.589;DP=9;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;POSITIVE_TRAIN_SITE;QD=5.85;ReadPosRankSum=-1.593;SOR=0.495;VQSLOD=6.77;culprit=QD GT:AD:DP:GQ:PL 0/1:7,2:9:60:60,0,245 -chr1 1095242 . C CA 42.60 . AC=1;AF=0.5;AN=2;BaseQRankSum=0.674;DP=5;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.65;ReadPosRankSum=0;SOR=2.303 GT:AD:DP:GQ:PL 0/1:2,2:4:50:50,0,50 -chr1 1096160 . A G 252.97 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;POSITIVE_TRAIN_SITE;QD=28.24;SOR=1.329;VQSLOD=2.52;culprit=SOR GT:AD:DP:GQ:PL 1/1:0,6:6:18:267,18,0 -chr1 1096593 . C T 70.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;POSITIVE_TRAIN_SITE;QD=17.66;ReadPosRankSum=-0.674;SOR=0.693;VQSLOD=7.36;culprit=ReadPosRankSum GT:AD:DP:GQ:PL 0/1:2,2:4:78:78,0,78 -chr1 1096804 . A G 78.32 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;POSITIVE_TRAIN_SITE;QD=30.72;SOR=0.693;VQSLOD=2.95;culprit=SOR GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 1097893 . C CT 50.28 . AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=25.14;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:62,6,0 -chr1 1098619 . C T 75.32 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;POSITIVE_TRAIN_SITE;QD=31.01;SOR=0.693;VQSLOD=2.38;culprit=SOR GT:AD:DP:GQ:PL 1/1:0,2:2:6:87,6,0 -chr1 1112230 . C T 70.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.66;ReadPosRankSum=-1.383;SOR=0.693;VQSLOD=4.70;culprit=ReadPosRankSum GT:AD:DP:GQ:PL 0/1:2,2:4:78:78,0,78 -chr1 1112351 . A G 121.84 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=30.69;SOR=1.179;VQSLOD=0.821;culprit=SOR GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 -chr1 1112385 . G A 78.32 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=29.78;SOR=0.693;VQSLOD=1.11;culprit=SOR GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 1112865 . T C 61.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.366;DP=8;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.81;ReadPosRankSum=-0.566;SOR=0.446;VQSLOD=4.54;culprit=ReadPosRankSum GT:AD:DP:GQ:PL 0/1:5,2:7:69:69,0,191 -chr1 1112892 . T C 46.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.566;DP=12;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.89;ReadPosRankSum=-0.865;SOR=0.693;VQSLOD=4.83;culprit=ReadPosRankSum GT:AD:DP:GQ:PL 0/1:10,2:12:54:54,0,414 -chr1 1112897 . T C 46.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.775;DP=12;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.89;ReadPosRankSum=-0.865;SOR=0.693;VQSLOD=5.09;culprit=ReadPosRankSum GT:AD:DP:GQ:PL 0/1:10,2:12:54:54,0,414 -chr1 1112951 . T C 226.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.389;DP=12;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.89;ReadPosRankSum=1.506;SOR=0.693;VQSLOD=6.02;culprit=QD GT:AD:DP:GQ:PL 0/1:6,6:12:99:234,0,234 -chr1 1112952 . T C 226.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.616;DP=12;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.89;ReadPosRankSum=1.506;SOR=0.693;VQSLOD=5.81;culprit=FS GT:AD:DP:GQ:PL 0/1:6,6:12:99:234,0,234 -chr1 1113318 . T C 299.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.712;DP=19;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.65;ReadPosRankSum=-0.534;SOR=0.412;VQSLOD=4.97;culprit=ReadPosRankSum GT:AD:DP:GQ:PL 0/1:10,8:18:99:307,0,323 -chr1 1113490 . T C 61.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.81;ReadPosRankSum=0.712;SOR=0.446;VQSLOD=5.74;culprit=DP GT:AD:DP:GQ:PL 0/1:5,2:7:69:69,0,204 -chr1 1113525 . T C 58.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.319;DP=8;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.33;ReadPosRankSum=2.1;SOR=0.307;VQSLOD=5.25;culprit=DP GT:AD:DP:GQ:PL 0/1:6,2:8:66:66,0,243 -chr1 1114590 . T C 43.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.36;DP=12;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.64;ReadPosRankSum=-1.188;SOR=0.693;VQSLOD=4.75;culprit=ReadPosRankSum GT:AD:DP:GQ:PL 0/1:10,2:12:51:51,0,344 -chr1 1114927 . CG C 59.28 . AC=2;AF=1;AN=2;DP=3;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=29.64;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:71,6,0 -chr1 1130087 . T A 65.32 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=32.66;SOR=0.693;VQSLOD=0.684;culprit=QD GT:AD:DP:GQ:PL 1/1:0,2:2:6:77,6,0 -chr1 1153882 . A G 78.32 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;POSITIVE_TRAIN_SITE;QD=30.54;SOR=0.693;VQSLOD=2.27;culprit=SOR GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 1158233 . G A 34.32 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;NEGATIVE_TRAIN_SITE;QD=17.16;SOR=0.693;VQSLOD=-3.754e+00;culprit=QD GT:AD:DP:GQ:PL 1/1:0,2:2:6:46,6,0 -chr1 1158404 . G A 57.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.431;DP=4;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.41;ReadPosRankSum=-1.383;SOR=0.693;VQSLOD=4.74;culprit=ReadPosRankSum GT:AD:DP:GQ:PL 0/1:2,2:4:65:65,0,70 -chr1 1160239 . C G 155.14 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.15;SOR=0.693;VQSLOD=-8.791e-01;culprit=QD GT:AD:DP:GQ:PL 1/1:0,4:4:12:169,12,0 -chr1 1160818 . C T 70.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;POSITIVE_TRAIN_SITE;QD=17.66;ReadPosRankSum=0;SOR=0.693;VQSLOD=6.12;culprit=ReadPosRankSum GT:AD:DP:GQ:PL 0/1:2,2:4:78:78,0,78 -chr1 1161720 . C T 86.84 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;POSITIVE_TRAIN_SITE;QD=28.95;SOR=1.179;VQSLOD=1.42;culprit=SOR GT:AD:DP:GQ:PL 1/1:0,3:3:9:100,9,0 -chr1 1161907 . T C 121.84 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=31.7;SOR=1.179;VQSLOD=0.650;culprit=SOR GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 -chr1 1162886 . C T 349.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.66;DP=11;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=31.79;ReadPosRankSum=-1.097;SOR=0.892;VQSLOD=4.21;culprit=ReadPosRankSum GT:AD:DP:GQ:PL 0/1:2,9:11:57:357,0,57 -chr1 1163041 . C T 1692.06 PASS AC=2;AF=1;AN=2;DP=44;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;POSITIVE_TRAIN_SITE;QD=32.17;SOR=0.741;VQSLOD=6.86;culprit=DP GT:AD:DP:GQ:PL 1/1:0,41:41:99:1706,123,0 -chr1 1163178 . C T 49.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.842;DP=11;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.96;ReadPosRankSum=0.728;SOR=0.693;VQSLOD=5.15;culprit=QD GT:AD:DP:GQ:PL 0/1:8,2:10:57:57,0,327 -chr1 1163440 . TCC T,TC 214.02 . AC=1,1;AF=0.5,0.5;AN=2;DP=8;ExcessHet=0;FS=0;MLEAC=1,1;MLEAF=0.5,0.5;MQ=60;QD=30.57;SOR=0.941 GT:AD:DP:GQ:PL 1/2:0,4,3:7:70:231,82,70,121,0,101 -chr1 1163962 . A C 639.06 PASS AC=2;AF=1;AN=2;DP=21;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;POSITIVE_TRAIN_SITE;QD=35.86;SOR=0.941;VQSLOD=3.71;culprit=QD GT:AD:DP:GQ:PL 1/1:0,16:16:48:653,48,0 -chr1 1164837 . C T 857.06 PASS AC=2;AF=1;AN=2;DP=22;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;POSITIVE_TRAIN_SITE;QD=34.53;SOR=0.693;VQSLOD=3.20;culprit=QD GT:AD:DP:GQ:PL 1/1:0,20:20:60:871,60,0 -chr1 1164939 . C A 312.68 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.967;DP=10;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;POSITIVE_TRAIN_SITE;QD=34.74;ReadPosRankSum=-1.593;SOR=0.223;VQSLOD=5.29;culprit=ReadPosRankSum GT:AD:DP:GQ:PL 0/1:1,8:9:10:320,0,10 -chr1 1165623 . C T 911.06 PASS AC=2;AF=1;AN=2;DP=21;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;POSITIVE_TRAIN_SITE;QD=33.68;SOR=0.784;VQSLOD=1.77;culprit=QD GT:AD:DP:GQ:PL 1/1:0,21:21:63:925,63,0 -chr1 1165943 . G A 249.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.658;DP=17;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.68;ReadPosRankSum=0.147;SOR=0.941;VQSLOD=5.22;culprit=FS GT:AD:DP:GQ:PL 0/1:10,7:17:99:257,0,399 -chr1 1166689 . A G 478.06 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;POSITIVE_TRAIN_SITE;QD=32.25;SOR=0.859;VQSLOD=4.43;culprit=DP GT:AD:DP:GQ:PL 1/1:0,11:11:33:492,33,0 -chr1 1167682 . C T 39.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.221;DP=10;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.96;ReadPosRankSum=-1.501;SOR=0.693;VQSLOD=4.74;culprit=QD GT:AD:DP:GQ:PL 0/1:8,2:10:47:47,0,319 -chr1 1167762 . C G 52.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.728;DP=10;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.26;ReadPosRankSum=-2.287;SOR=0.693;VQSLOD=4.99;culprit=QD GT:AD:DP:GQ:PL 0/1:8,2:10:60:60,0,305 -chr1 1168162 . T C 75.32 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;POSITIVE_TRAIN_SITE;QD=28.47;SOR=0.693;VQSLOD=1.31;culprit=QD GT:AD:DP:GQ:PL 1/1:0,2:2:6:87,6,0 -chr1 1168310 . T TCA 335.92 . AC=2;AF=1;AN=2;BaseQRankSum=1.593;DP=10;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=26.77;ReadPosRankSum=-1.593;SOR=0.446 GT:AD:DP:GQ:PL 1/1:1,8:9:17:350,17,0 -chr1 1168578 . T G 556.06 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;POSITIVE_TRAIN_SITE;QD=29.61;SOR=1.179;VQSLOD=1.66;culprit=SOR GT:AD:DP:GQ:PL 1/1:0,13:13:39:570,39,0 -chr1 1168643 . C T 55.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.282;DP=11;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.18;ReadPosRankSum=0.282;SOR=0.223;VQSLOD=4.13;culprit=ReadPosRankSum GT:AD:DP:GQ:PL 0/1:7,2:9:63:63,0,270 -chr1 1169204 . T C 78.32 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;POSITIVE_TRAIN_SITE;QD=30.95;SOR=0.693;VQSLOD=2.51;culprit=QD GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 1169591 . C A 174.66 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.967;DP=6;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=29.11;ReadPosRankSum=1.383;SOR=0.707;VQSLOD=5.42;culprit=ReadPosRankSum GT:AD:DP:GQ:PL 0/1:1,5:6:14:182,0,14 -chr1 1169858 . T C 121.84 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;POSITIVE_TRAIN_SITE;QD=28.43;SOR=1.179;VQSLOD=1.53;culprit=SOR GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 -chr1 1221034 . C T 58.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.319;DP=8;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.33;ReadPosRankSum=0.854;SOR=0.307;VQSLOD=4.88;culprit=DP GT:AD:DP:GQ:PL 0/1:6,2:8:66:66,0,233 -chr1 1221498 . T C 151.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.431;DP=6;ExcessHet=0;FS=3.31;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;NEGATIVE_TRAIN_SITE;QD=25.27;ReadPosRankSum=-0.431;SOR=0.105;VQSLOD=-1.134e+01;culprit=SOR GT:AD:DP:GQ:PL 0/1:2,4:6:72:159,0,72 -chr1 1223251 . A G 522.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.834;DP=26;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;POSITIVE_TRAIN_SITE;QD=32.66;ReadPosRankSum=-2.153;SOR=0.976;VQSLOD=6.79;culprit=ReadPosRankSum GT:AD:DP:GQ:PL 0/1:2,14:16:34:530,0,34 -chr1 1224137 . T C 107.84 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;POSITIVE_TRAIN_SITE;QD=35.49;SOR=1.179;VQSLOD=1.63;culprit=QD GT:AD:DP:GQ:PL 1/1:0,3:3:9:121,9,0 -chr1 1226946 . A G 166.14 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;POSITIVE_TRAIN_SITE;QD=29.71;SOR=0.693;VQSLOD=1.56;culprit=SOR GT:AD:DP:GQ:PL 1/1:0,4:4:12:180,12,0 -chr1 1232278 . C T 37.64 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.764;DP=14;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.69;ReadPosRankSum=-1.391;SOR=0.693;VQSLOD=5.02;culprit=QD GT:AD:DP:GQ:PL 0/1:12,2:14:45:45,0,486 diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/htcaller/s001_snvs.1rd.flt.vcf.idx b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/htcaller/s001_snvs.1rd.flt.vcf.idx deleted file mode 100644 index 3430eda..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/htcaller/s001_snvs.1rd.flt.vcf.idx and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/htcaller/s001_variants.1rd.baserecal.bai b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/htcaller/s001_variants.1rd.baserecal.bai deleted file mode 100644 index 0e72239..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/htcaller/s001_variants.1rd.baserecal.bai and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/htcaller/s001_variants.1rd.baserecal.bam b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/htcaller/s001_variants.1rd.baserecal.bam deleted file mode 100644 index 4c82f51..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/htcaller/s001_variants.1rd.baserecal.bam and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/htcaller/s001_variants.1rd.baserecal.bam.bai b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/htcaller/s001_variants.1rd.baserecal.bam.bai deleted file mode 100644 index 39b265a..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/htcaller/s001_variants.1rd.baserecal.bam.bai and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/htcaller/s001_variants.1rd.baserecal.grp b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/htcaller/s001_variants.1rd.baserecal.grp deleted file mode 100644 index abf43a4..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/htcaller/s001_variants.1rd.baserecal.grp +++ /dev/null @@ -1,1309 +0,0 @@ -#:GATKReport.v1.1:5 -#:GATKTable:2:17:%s:%s:; -#:GATKTable:Arguments:Recalibration argument collection values used in this run -Argument Value -binary_tag_name null -covariate ReadGroupCovariate,QualityScoreCovariate,ContextCovariate,CycleCovariate -default_platform null -deletions_default_quality 45 -force_platform null -indels_context_size 3 -insertions_default_quality 45 -low_quality_tail 2 -maximum_cycle_value 500 -mismatches_context_size 2 -mismatches_default_quality -1 -no_standard_covs false -quantizing_levels 16 -recalibration_report null -run_without_dbsnp false 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0.00 -unknown 8 102 Cycle M 8.0000 1 0.00 -unknown 8 103 Cycle M 8.0000 3 0.00 -unknown 8 104 Cycle M 8.0000 3 0.00 -unknown 8 105 Cycle M 8.0000 6 0.00 -unknown 8 106 Cycle M 8.0000 6 0.00 -unknown 8 107 Cycle M 8.0000 3 0.00 -unknown 8 108 Cycle M 8.0000 4 0.00 -unknown 8 109 Cycle M 8.0000 2 0.00 -unknown 8 110 Cycle M 8.0000 5 0.00 -unknown 8 111 Cycle M 8.0000 4 1.00 -unknown 8 112 Cycle M 8.0000 7 0.00 -unknown 8 113 Cycle M 8.0000 9 0.00 -unknown 8 114 Cycle M 8.0000 14 0.00 -unknown 8 115 Cycle M 8.0000 14 0.00 -unknown 8 116 Cycle M 8.0000 22 3.00 -unknown 8 117 Cycle M 8.0000 22 1.00 -unknown 8 118 Cycle M 8.0000 25 1.00 -unknown 8 119 Cycle M 8.0000 38 6.00 -unknown 8 120 Cycle M 8.0000 35 3.00 -unknown 8 121 Cycle M 8.0000 54 5.00 -unknown 8 122 Cycle M 8.0000 46 0.00 -unknown 8 123 Cycle M 8.0000 57 4.00 -unknown 8 124 Cycle M 8.0000 66 5.00 -unknown 8 125 Cycle M 8.0000 82 8.00 -unknown 8 126 Cycle M 8.0000 75 3.00 -unknown 8 127 Cycle M 8.0000 87 14.00 -unknown 8 128 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0.00 -unknown 8 CA Context M 9.0000 332 26.00 -unknown 8 CC Context M 7.0000 377 82.00 -unknown 8 CG Context M 8.0000 251 28.00 -unknown 8 CT Context M 10.0000 456 7.00 -unknown 8 GA Context M 9.0000 298 18.00 -unknown 8 GC Context M 8.0000 411 63.00 -unknown 8 GG Context M 9.0000 554 64.00 -unknown 8 GT Context M 10.0000 407 3.00 -unknown 8 TA Context M 8.0000 17 4.00 -unknown 8 TC Context M 8.0000 160 18.00 -unknown 8 TG Context M 9.0000 221 14.00 -unknown 8 TT Context M 8.0000 44 1.00 -unknown 12 1 Cycle M 13.0000 249 0.00 -unknown 12 10 Cycle M 12.0000 86 4.00 -unknown 12 100 Cycle M 12.0000 251 21.00 -unknown 12 101 Cycle M 12.0000 275 12.00 -unknown 12 102 Cycle M 12.0000 251 17.00 -unknown 12 103 Cycle M 12.0000 239 12.00 -unknown 12 104 Cycle M 12.0000 269 18.00 -unknown 12 105 Cycle M 12.0000 277 15.00 -unknown 12 106 Cycle M 12.0000 261 13.00 -unknown 12 107 Cycle M 12.0000 253 20.00 -unknown 12 108 Cycle M 12.0000 270 16.00 -unknown 12 109 Cycle M 12.0000 249 20.00 -unknown 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12 131 Cycle M 12.0000 276 13.00 -unknown 12 132 Cycle M 12.0000 314 15.00 -unknown 12 133 Cycle M 12.0000 297 15.00 -unknown 12 134 Cycle M 12.0000 296 12.00 -unknown 12 135 Cycle M 12.0000 299 13.00 -unknown 12 136 Cycle M 12.0000 302 27.00 -unknown 12 137 Cycle M 12.0000 299 11.00 -unknown 12 138 Cycle M 12.0000 337 13.00 -unknown 12 139 Cycle M 12.0000 296 13.00 -unknown 12 14 Cycle M 12.0000 113 10.00 -unknown 12 140 Cycle M 12.0000 323 15.00 -unknown 12 141 Cycle M 13.0000 324 8.00 -unknown 12 142 Cycle M 12.0000 303 13.00 -unknown 12 143 Cycle M 12.0000 352 11.00 -unknown 12 144 Cycle M 13.0000 358 10.00 -unknown 12 145 Cycle M 13.0000 328 8.00 -unknown 12 146 Cycle M 13.0000 368 10.00 -unknown 12 147 Cycle M 13.0000 383 11.00 -unknown 12 148 Cycle M 13.0000 359 11.00 -unknown 12 149 Cycle M 12.0000 343 11.00 -unknown 12 15 Cycle M 12.0000 94 7.00 -unknown 12 150 Cycle M 13.0000 352 4.00 -unknown 12 151 Cycle M 13.0000 427 6.00 -unknown 12 152 Cycle M 12.0000 96 1.00 -unknown 12 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-##fileformat=VCFv4.2 -##FILTER= -##GATKCommandLine= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##reference=genome -##source=VariantRecalibrator -#CHROM POS ID REF ALT QUAL FILTER INFO -chr1 190768 . N . . END=190768;VQSLOD=-3.0595;culprit=MQ -chr1 778034 . N . . END=778036;NEGATIVE_TRAIN_SITE;VQSLOD=-67.5771;culprit=MQRankSum -chr1 778051 . N . . END=778051;NEGATIVE_TRAIN_SITE;VQSLOD=-14.8697;culprit=MQ -chr1 778082 . N . . END=778082;NEGATIVE_TRAIN_SITE;VQSLOD=-37.4950;culprit=MQRankSum -chr1 778083 . N . . END=778083;NEGATIVE_TRAIN_SITE;VQSLOD=-38.0955;culprit=MQRankSum -chr1 778906 . N . . END=778906;NEGATIVE_TRAIN_SITE;VQSLOD=-19.7574;culprit=MQRankSum -chr1 778984 . N . . END=778984;NEGATIVE_TRAIN_SITE;VQSLOD=-46.6145;culprit=MQRankSum -chr1 779196 . N . . END=779196;NEGATIVE_TRAIN_SITE;VQSLOD=-76.1266;culprit=MQRankSum -chr1 779968 . N . . END=779968;POSITIVE_TRAIN_SITE;VQSLOD=-1.5268;culprit=MQ -chr1 781047 . N . . END=781047;NEGATIVE_TRAIN_SITE;VQSLOD=-155.8039;culprit=MQRankSum -chr1 783175 . N . . END=783175;VQSLOD=0.8441;culprit=MQ -chr1 794299 . N . . END=794299;NEGATIVE_TRAIN_SITE;POSITIVE_TRAIN_SITE;VQSLOD=-6.2337;culprit=MQ -chr1 797585 . N . . END=797585;VQSLOD=-1.8553;culprit=MQ -chr1 817186 . N . . END=817186;POSITIVE_TRAIN_SITE;VQSLOD=0.9106;culprit=MQ -chr1 817233 . N . . END=817234;NEGATIVE_TRAIN_SITE;VQSLOD=-36.7273;culprit=MQRankSum -chr1 817257 . N . . END=817257;NEGATIVE_TRAIN_SITE;VQSLOD=-22.8576;culprit=MQRankSum -chr1 817341 . N . . END=817341;VQSLOD=1.1191;culprit=DP -chr1 818094 . N . . END=818094;NEGATIVE_TRAIN_SITE;VQSLOD=-8.3496;culprit=MQ -chr1 818802 . N . . END=818802;NEGATIVE_TRAIN_SITE;POSITIVE_TRAIN_SITE;VQSLOD=-6.0810;culprit=MQ -chr1 818812 . N . . END=818812;POSITIVE_TRAIN_SITE;VQSLOD=1.8470;culprit=MQ -chr1 818954 . N . . END=818954;POSITIVE_TRAIN_SITE;VQSLOD=0.0160;culprit=MQ -chr1 819123 . N . . END=819123;POSITIVE_TRAIN_SITE;VQSLOD=0.0112;culprit=MQ -chr1 819584 . N . . END=819584;NEGATIVE_TRAIN_SITE;POSITIVE_TRAIN_SITE;VQSLOD=-13.0352;culprit=MQ -chr1 820395 . N . . END=820395;VQSLOD=0.9185;culprit=QD -chr1 822354 . N . . END=822354;VQSLOD=0.7630;culprit=SOR -chr1 822764 . N . . END=822764;VQSLOD=0.5002;culprit=SOR -chr1 822944 . N . . END=822944;VQSLOD=0.4490;culprit=QD -chr1 823246 . N . . END=823246;VQSLOD=-0.0817;culprit=QD -chr1 825767 . N . . END=825767;NEGATIVE_TRAIN_SITE;POSITIVE_TRAIN_SITE;VQSLOD=-6.6355;culprit=MQ -chr1 837375 . N . . END=837375;POSITIVE_TRAIN_SITE;VQSLOD=-0.4790;culprit=MQ -chr1 839183 . N . . END=839184;NEGATIVE_TRAIN_SITE;VQSLOD=-45.2051;culprit=MQRankSum -chr1 839356 . N . . END=839356;NEGATIVE_TRAIN_SITE;VQSLOD=-11.3301;culprit=SOR -chr1 841742 . N . . END=841742;POSITIVE_TRAIN_SITE;VQSLOD=5.8028;culprit=MQ -chr1 842922 . N . . END=842922;NEGATIVE_TRAIN_SITE;VQSLOD=-6.6000;culprit=MQ -chr1 843189 . N . . END=843189;POSITIVE_TRAIN_SITE;VQSLOD=5.8712;culprit=MQ -chr1 844647 . N . . END=844647;POSITIVE_TRAIN_SITE;VQSLOD=2.9203;culprit=MQ -chr1 845405 . N . . END=845405;POSITIVE_TRAIN_SITE;VQSLOD=0.8117;culprit=MQ -chr1 849670 . N . . END=849670;POSITIVE_TRAIN_SITE;VQSLOD=4.1444;culprit=MQ -chr1 851882 . N . . END=851882;VQSLOD=-3.2153;culprit=MQ -chr1 852019 . N . . END=852019;NEGATIVE_TRAIN_SITE;POSITIVE_TRAIN_SITE;VQSLOD=-11.8510;culprit=MQRankSum -chr1 852305 . N . . END=852305;NEGATIVE_TRAIN_SITE;VQSLOD=-3.2660;culprit=MQ -chr1 853565 . N . . END=853565;NEGATIVE_TRAIN_SITE;VQSLOD=-9.0278;culprit=MQ -chr1 853572 . N . . END=853572;NEGATIVE_TRAIN_SITE;VQSLOD=-6.9402;culprit=MQ -chr1 855378 . N . . END=855380;VQSLOD=0.3830;culprit=MQ -chr1 856883 . N . . END=856883;NEGATIVE_TRAIN_SITE;VQSLOD=-9.0616;culprit=MQ -chr1 857100 . N . . END=857100;POSITIVE_TRAIN_SITE;VQSLOD=5.5587;culprit=MQ -chr1 897018 . N . . END=897018;NEGATIVE_TRAIN_SITE;POSITIVE_TRAIN_SITE;VQSLOD=-2.5202;culprit=MQ -chr1 901763 . N . . END=901763;VQSLOD=4.7524;culprit=ReadPosRankSum -chr1 902641 . N . . END=902641;VQSLOD=1.2718;culprit=SOR -chr1 902949 . N . . END=902949;VQSLOD=0.0958;culprit=QD -chr1 903007 . N . . END=903007;POSITIVE_TRAIN_SITE;VQSLOD=1.6184;culprit=QD -chr1 904947 . N . . END=904947;VQSLOD=4.7764;culprit=ReadPosRankSum -chr1 905705 . N . . END=905705;POSITIVE_TRAIN_SITE;VQSLOD=6.8627;culprit=ReadPosRankSum -chr1 906633 . N . . END=906633;POSITIVE_TRAIN_SITE;VQSLOD=6.6289;culprit=ReadPosRankSum -chr1 906982 . N . . END=906982;POSITIVE_TRAIN_SITE;VQSLOD=1.9681;culprit=SOR -chr1 907022 . N . . END=907022;VQSLOD=5.6877;culprit=ReadPosRankSum -chr1 907236 . N . . END=907239;VQSLOD=0.3821;culprit=QD -chr1 907445 . N . . END=907445;POSITIVE_TRAIN_SITE;VQSLOD=1.4536;culprit=SOR -chr1 908025 . N . . END=908025;POSITIVE_TRAIN_SITE;VQSLOD=5.8014;culprit=ReadPosRankSum -chr1 908285 . N . . END=908285;VQSLOD=4.6501;culprit=DP -chr1 909894 . N . . END=909894;POSITIVE_TRAIN_SITE;VQSLOD=7.1562;culprit=QD -chr1 909903 . N . . END=909903;POSITIVE_TRAIN_SITE;VQSLOD=1.7526;culprit=QD -chr1 910255 . N . . END=910255;VQSLOD=4.1668;culprit=ReadPosRankSum -chr1 910462 . N . . END=910462;VQSLOD=5.0027;culprit=QD -chr1 910558 . N . . END=910558;POSITIVE_TRAIN_SITE;VQSLOD=6.2146;culprit=ReadPosRankSum -chr1 910698 . N . . END=910698;POSITIVE_TRAIN_SITE;VQSLOD=5.5902;culprit=DP -chr1 910958 . N . . END=910958;POSITIVE_TRAIN_SITE;VQSLOD=1.7488;culprit=SOR -chr1 911018 . N . . END=911018;POSITIVE_TRAIN_SITE;VQSLOD=6.6325;culprit=ReadPosRankSum -chr1 911109 . N . . END=911109;POSITIVE_TRAIN_SITE;VQSLOD=1.7752;culprit=SOR -chr1 911220 . N . . END=911221;VQSLOD=0.0798;culprit=DP -chr1 911848 . N . . END=911848;POSITIVE_TRAIN_SITE;VQSLOD=6.1607;culprit=QD -chr1 911870 . N . . END=911870;POSITIVE_TRAIN_SITE;VQSLOD=2.6482;culprit=QD -chr1 912111 . N . . END=912111;POSITIVE_TRAIN_SITE;VQSLOD=6.5215;culprit=DP -chr1 912710 . N . . END=912710;POSITIVE_TRAIN_SITE;VQSLOD=4.9782;culprit=ReadPosRankSum -chr1 913065 . N . . END=913065;POSITIVE_TRAIN_SITE;VQSLOD=6.7983;culprit=ReadPosRankSum -chr1 913076 . N . . END=913076;POSITIVE_TRAIN_SITE;VQSLOD=6.1512;culprit=ReadPosRankSum -chr1 913086 . N . . END=913086;VQSLOD=5.3973;culprit=ReadPosRankSum -chr1 913274 . N . . END=913275;VQSLOD=4.7750;culprit=ReadPosRankSum -chr1 913337 . N . . END=913337;VQSLOD=4.8983;culprit=QD -chr1 913358 . N . . END=913358;POSITIVE_TRAIN_SITE;VQSLOD=6.5137;culprit=QD -chr1 913870 . N . . END=913872;VQSLOD=5.7693;culprit=QD -chr1 914618 . N . . END=914618;POSITIVE_TRAIN_SITE;VQSLOD=1.8367;culprit=DP -chr1 915810 . N . . END=915810;POSITIVE_TRAIN_SITE;VQSLOD=8.2471;culprit=QD -chr1 915824 . N . . END=915824;POSITIVE_TRAIN_SITE;VQSLOD=6.8170;culprit=ReadPosRankSum -chr1 916119 . N . . END=916119;POSITIVE_TRAIN_SITE;VQSLOD=0.0987;culprit=SOR -chr1 916377 . N . . END=916377;VQSLOD=0.1496;culprit=SOR -chr1 916657 . N . . END=916657;POSITIVE_TRAIN_SITE;VQSLOD=7.7356;culprit=ReadPosRankSum -chr1 916683 . N . . END=916683;POSITIVE_TRAIN_SITE;VQSLOD=7.1694;culprit=QD -chr1 916753 . N . . END=916753;POSITIVE_TRAIN_SITE;VQSLOD=0.9097;culprit=QD -chr1 917284 . N . . END=917284;POSITIVE_TRAIN_SITE;VQSLOD=7.5897;culprit=QD -chr1 917378 . N . . END=917378;POSITIVE_TRAIN_SITE;VQSLOD=15.3001;culprit=ReadPosRankSum -chr1 917495 . N . . END=917495;POSITIVE_TRAIN_SITE;VQSLOD=6.7140;culprit=ReadPosRankSum -chr1 917584 . N . . END=917584;POSITIVE_TRAIN_SITE;VQSLOD=2.3891;culprit=QD -chr1 917859 . N . . END=917859;POSITIVE_TRAIN_SITE;VQSLOD=5.9875;culprit=ReadPosRankSum -chr1 918443 . N . . END=918443;NEGATIVE_TRAIN_SITE;VQSLOD=-26.0794;culprit=SOR -chr1 918574 . N . . END=918574;POSITIVE_TRAIN_SITE;VQSLOD=6.4371;culprit=DP -chr1 918870 . N . . END=918870;POSITIVE_TRAIN_SITE;VQSLOD=6.6985;culprit=ReadPosRankSum -chr1 918888 . N . . END=918888;VQSLOD=5.0316;culprit=DP -chr1 919297 . N . . END=919297;VQSLOD=5.1734;culprit=QD -chr1 919397 . N . . END=919397;POSITIVE_TRAIN_SITE;VQSLOD=7.2115;culprit=QD -chr1 919598 . N . . END=919598;POSITIVE_TRAIN_SITE;VQSLOD=6.9891;culprit=ReadPosRankSum -chr1 919695 . N . . END=919695;POSITIVE_TRAIN_SITE;VQSLOD=6.0915;culprit=DP -chr1 920719 . N . . END=920719;POSITIVE_TRAIN_SITE;VQSLOD=7.2946;culprit=FS -chr1 920728 . N . . END=920728;POSITIVE_TRAIN_SITE;VQSLOD=7.2780;culprit=QD -chr1 921056 . N . . END=921057;VQSLOD=4.7816;culprit=FS -chr1 921096 . N . . END=921096;POSITIVE_TRAIN_SITE;VQSLOD=6.4445;culprit=QD -chr1 922226 . N . . END=922226;VQSLOD=4.7863;culprit=DP -chr1 922348 . N . . END=922348;POSITIVE_TRAIN_SITE;VQSLOD=5.9492;culprit=ReadPosRankSum -chr1 922660 . N . . END=922660;POSITIVE_TRAIN_SITE;VQSLOD=1.3464;culprit=QD -chr1 922671 . N . . END=922671;POSITIVE_TRAIN_SITE;VQSLOD=0.8738;culprit=QD -chr1 924024 . N . . END=924024;VQSLOD=-0.1939;culprit=DP -chr1 924305 . N . . END=924305;VQSLOD=6.9831;culprit=QD -chr1 924310 . N . . END=924310;VQSLOD=0.6818;culprit=DP -chr1 924314 . N . . END=924314;VQSLOD=6.6577;culprit=QD -chr1 924321 . N . . END=924321;VQSLOD=1.2174;culprit=SOR -chr1 924533 . N . . END=924533;VQSLOD=1.9445;culprit=QD -chr1 925036 . N . . END=925036;POSITIVE_TRAIN_SITE;VQSLOD=5.0429;culprit=ReadPosRankSum -chr1 925081 . N . . END=925081;POSITIVE_TRAIN_SITE;VQSLOD=1.6997;culprit=SOR -chr1 925628 . N . . END=925628;POSITIVE_TRAIN_SITE;VQSLOD=2.2218;culprit=FS -chr1 926250 . N . . END=926250;POSITIVE_TRAIN_SITE;VQSLOD=5.7699;culprit=DP -chr1 926428 . N . . END=926428;POSITIVE_TRAIN_SITE;VQSLOD=1.9463;culprit=DP -chr1 926713 . N . . END=926713;POSITIVE_TRAIN_SITE;VQSLOD=3.0775;culprit=QD -chr1 926744 . N . . END=926744;POSITIVE_TRAIN_SITE;VQSLOD=1.5778;culprit=FS -chr1 927003 . N . . END=927003;POSITIVE_TRAIN_SITE;VQSLOD=0.8315;culprit=QD -chr1 927009 . N . . END=927009;POSITIVE_TRAIN_SITE;VQSLOD=2.4640;culprit=SOR -chr1 927443 . N . . END=927443;VQSLOD=4.6004;culprit=ReadPosRankSum -chr1 927486 . N . . END=927486;POSITIVE_TRAIN_SITE;VQSLOD=6.4355;culprit=ReadPosRankSum -chr1 927744 . N . . END=927744;POSITIVE_TRAIN_SITE;VQSLOD=4.0340;culprit=DP -chr1 928622 . N . . END=928622;POSITIVE_TRAIN_SITE;VQSLOD=1.6478;culprit=QD -chr1 929346 . N . . END=929346;POSITIVE_TRAIN_SITE;VQSLOD=1.7416;culprit=SOR -chr1 929375 . N . . END=929375;POSITIVE_TRAIN_SITE;VQSLOD=1.7505;culprit=SOR -chr1 929377 . N . . END=929377;POSITIVE_TRAIN_SITE;VQSLOD=2.3268;culprit=SOR -chr1 930939 . N . . END=930939;POSITIVE_TRAIN_SITE;VQSLOD=2.3373;culprit=SOR -chr1 931513 . N . . END=931513;POSITIVE_TRAIN_SITE;VQSLOD=5.7420;culprit=ReadPosRankSum -chr1 931540 . N . . END=931540;POSITIVE_TRAIN_SITE;VQSLOD=0.6881;culprit=SOR -chr1 931558 . N . . END=931558;POSITIVE_TRAIN_SITE;VQSLOD=7.0569;culprit=ReadPosRankSum -chr1 932255 . N . . END=932255;POSITIVE_TRAIN_SITE;VQSLOD=6.1344;culprit=QD -chr1 932512 . N . . END=932512;VQSLOD=4.3841;culprit=SOR -chr1 932613 . N . . END=932617;VQSLOD=0.1333;culprit=SOR -chr1 933511 . N . . END=933511;POSITIVE_TRAIN_SITE;VQSLOD=1.4258;culprit=SOR -chr1 933548 . N . . END=933548;VQSLOD=-0.5474;culprit=QD -chr1 936972 . N . . END=936972;POSITIVE_TRAIN_SITE;VQSLOD=1.7098;culprit=QD -chr1 938222 . N . . END=938222;VQSLOD=0.9361;culprit=SOR -chr1 939038 . N . . END=939038;VQSLOD=-0.1029;culprit=QD -chr1 939864 . N . . END=939864;VQSLOD=4.8012;culprit=ReadPosRankSum -chr1 941119 . N . . END=941119;POSITIVE_TRAIN_SITE;VQSLOD=1.4265;culprit=SOR -chr1 941767 . N . . END=941767;POSITIVE_TRAIN_SITE;VQSLOD=7.6663;culprit=ReadPosRankSum -chr1 942335 . N . . END=942335;POSITIVE_TRAIN_SITE;VQSLOD=0.1791;culprit=QD -chr1 942451 . N . . END=942451;VQSLOD=-0.9827;culprit=SOR -chr1 944296 . N . . END=944296;NEGATIVE_TRAIN_SITE;POSITIVE_TRAIN_SITE;VQSLOD=-11.1869;culprit=DP -chr1 944307 . N . . END=944307;NEGATIVE_TRAIN_SITE;POSITIVE_TRAIN_SITE;VQSLOD=-5.4937;culprit=DP -chr1 944858 . N . . END=944858;POSITIVE_TRAIN_SITE;VQSLOD=2.0333;culprit=QD -chr1 945259 . N . . END=945260;NEGATIVE_TRAIN_SITE;VQSLOD=-22.0016;culprit=SOR -chr1 945827 . N . . END=945827;VQSLOD=5.0186;culprit=QD -chr1 946247 . N . . END=946247;POSITIVE_TRAIN_SITE;VQSLOD=11.5738;culprit=DP -chr1 946538 . N . . END=946538;NEGATIVE_TRAIN_SITE;POSITIVE_TRAIN_SITE;VQSLOD=-13.0279;culprit=MQRankSum -chr1 947371 . N . . END=947371;VQSLOD=4.4403;culprit=SOR -chr1 947423 . N . . END=947423;POSITIVE_TRAIN_SITE;VQSLOD=2.5426;culprit=DP -chr1 948711 . N . . END=948711;VQSLOD=4.0263;culprit=QD -chr1 949171 . N . . END=949175;VQSLOD=4.4273;culprit=DP -chr1 949435 . N . . END=949435;POSITIVE_TRAIN_SITE;VQSLOD=2.4452;culprit=QD -chr1 949628 . N . . END=949628;VQSLOD=5.0878;culprit=QD -chr1 950319 . N . . END=950319;VQSLOD=0.7979;culprit=SOR -chr1 952421 . N . . END=952421;POSITIVE_TRAIN_SITE;VQSLOD=0.9050;culprit=MQ -chr1 953259 . N . . END=953259;POSITIVE_TRAIN_SITE;VQSLOD=-0.8136;culprit=MQ -chr1 953279 . N . . END=953279;NEGATIVE_TRAIN_SITE;POSITIVE_TRAIN_SITE;VQSLOD=-2.5139;culprit=MQ -chr1 953778 . N . . END=953778;POSITIVE_TRAIN_SITE;VQSLOD=0.3901;culprit=SOR -chr1 953779 . N . . END=953779;POSITIVE_TRAIN_SITE;VQSLOD=0.7857;culprit=SOR -chr1 954258 . N . . END=954258;POSITIVE_TRAIN_SITE;VQSLOD=1.5705;culprit=SOR -chr1 954333 . N . . END=954333;POSITIVE_TRAIN_SITE;VQSLOD=1.6727;culprit=SOR -chr1 954574 . N . . END=954574;VQSLOD=-0.2493;culprit=QD -chr1 954827 . N . . END=954828;VQSLOD=0.3290;culprit=QD -chr1 955384 . N . . END=955384;VQSLOD=6.1707;culprit=QD -chr1 955641 . N . . END=955641;POSITIVE_TRAIN_SITE;VQSLOD=1.4513;culprit=DP -chr1 955679 . N . . END=955679;POSITIVE_TRAIN_SITE;VQSLOD=6.5324;culprit=QD -chr1 956565 . N . . END=956565;NEGATIVE_TRAIN_SITE;POSITIVE_TRAIN_SITE;VQSLOD=-9.3967;culprit=SOR -chr1 957365 . N . . END=957365;POSITIVE_TRAIN_SITE;VQSLOD=1.1572;culprit=QD -chr1 957900 . N . . END=957900;POSITIVE_TRAIN_SITE;VQSLOD=3.0897;culprit=QD -chr1 959193 . N . . END=959193;POSITIVE_TRAIN_SITE;VQSLOD=1.8893;culprit=SOR -chr1 960891 . N . . END=960891;VQSLOD=0.7414;culprit=SOR -chr1 961096 . N . . END=961096;POSITIVE_TRAIN_SITE;VQSLOD=1.6130;culprit=DP -chr1 961945 . N . . END=961945;POSITIVE_TRAIN_SITE;VQSLOD=4.6759;culprit=QD -chr1 962001 . N . . END=962001;VQSLOD=5.5326;culprit=QD -chr1 962184 . N . . END=962184;POSITIVE_TRAIN_SITE;VQSLOD=2.0541;culprit=DP -chr1 962943 . N . . END=962943;POSITIVE_TRAIN_SITE;VQSLOD=1.9437;culprit=SOR -chr1 964218 . N . . END=964218;VQSLOD=4.7647;culprit=ReadPosRankSum -chr1 965125 . N . . END=965125;POSITIVE_TRAIN_SITE;VQSLOD=7.6407;culprit=QD -chr1 965337 . N . . END=965341;VQSLOD=6.2874;culprit=QD -chr1 965350 . N . . END=965350;POSITIVE_TRAIN_SITE;VQSLOD=3.0627;culprit=SOR -chr1 965592 . N . . END=965592;POSITIVE_TRAIN_SITE;VQSLOD=3.5021;culprit=SOR -chr1 965643 . N . . END=965643;POSITIVE_TRAIN_SITE;VQSLOD=2.0549;culprit=QD -chr1 965666 . N . . END=965668;VQSLOD=5.0908;culprit=ReadPosRankSum -chr1 966179 . N . . END=966179;POSITIVE_TRAIN_SITE;VQSLOD=1.5870;culprit=SOR -chr1 966227 . N . . END=966227;POSITIVE_TRAIN_SITE;VQSLOD=1.7388;culprit=SOR -chr1 966272 . N . . END=966272;POSITIVE_TRAIN_SITE;VQSLOD=1.4228;culprit=SOR -chr1 966665 . N . . END=966665;VQSLOD=-0.0475;culprit=SOR -chr1 966770 . N . . END=966770;VQSLOD=5.4246;culprit=QD -chr1 967376 . N . . END=967377;VQSLOD=0.0352;culprit=SOR -chr1 967384 . N . . END=967384;VQSLOD=-1.2435;culprit=SOR -chr1 968841 . N . . END=968841;VQSLOD=5.6485;culprit=QD -chr1 969377 . N . . END=969377;VQSLOD=-0.1379;culprit=QD -chr1 969663 . N . . END=969665;VQSLOD=0.1317;culprit=QD -chr1 970005 . N . . END=970005;NEGATIVE_TRAIN_SITE;VQSLOD=-39.5622;culprit=MQRankSum -chr1 970874 . N . . END=970874;VQSLOD=4.1101;culprit=ReadPosRankSum -chr1 971513 . N . . END=971513;VQSLOD=4.1259;culprit=ReadPosRankSum -chr1 973929 . N . . END=973929;POSITIVE_TRAIN_SITE;VQSLOD=6.1189;culprit=ReadPosRankSum -chr1 974388 . N . . END=974388;POSITIVE_TRAIN_SITE;VQSLOD=1.7335;culprit=QD -chr1 975447 . N . . END=975447;NEGATIVE_TRAIN_SITE;VQSLOD=-22.9764;culprit=FS -chr1 975492 . N . . END=975494;VQSLOD=4.5979;culprit=QD -chr1 975523 . N . . END=975523;POSITIVE_TRAIN_SITE;VQSLOD=5.7111;culprit=ReadPosRankSum -chr1 976215 . N . . END=976215;POSITIVE_TRAIN_SITE;VQSLOD=6.5513;culprit=ReadPosRankSum -chr1 997238 . N . . END=997238;POSITIVE_TRAIN_SITE;VQSLOD=0.4827;culprit=SOR -chr1 997987 . N . . END=997987;VQSLOD=0.7492;culprit=QD -chr1 998935 . N . . END=998936;VQSLOD=5.1292;culprit=QD -chr1 999005 . N . . END=999005;NEGATIVE_TRAIN_SITE;POSITIVE_TRAIN_SITE;VQSLOD=0.7187;culprit=DP -chr1 999842 . N . . END=999842;POSITIVE_TRAIN_SITE;VQSLOD=9.2446;culprit=DP -chr1 1000079 . N . . END=1000079;NEGATIVE_TRAIN_SITE;VQSLOD=-1.9206;culprit=DP -chr1 1000112 . N . . END=1000112;POSITIVE_TRAIN_SITE;VQSLOD=3.6233;culprit=SOR -chr1 1000335 . N . . END=1000335;VQSLOD=6.7013;culprit=ReadPosRankSum -chr1 1000453 . N . . END=1000453;POSITIVE_TRAIN_SITE;VQSLOD=7.5468;culprit=FS -chr1 1000731 . N . . END=1000731;POSITIVE_TRAIN_SITE;VQSLOD=9.2843;culprit=DP -chr1 1000814 . N . . END=1000814;POSITIVE_TRAIN_SITE;VQSLOD=5.6596;culprit=DP -chr1 1000830 . N . . END=1000830;POSITIVE_TRAIN_SITE;VQSLOD=1.9766;culprit=SOR -chr1 1001107 . N . . END=1001107;POSITIVE_TRAIN_SITE;VQSLOD=2.5163;culprit=QD -chr1 1002308 . N . . END=1002308;POSITIVE_TRAIN_SITE;VQSLOD=3.6212;culprit=QD -chr1 1009083 . N . . END=1009083;VQSLOD=4.7805;culprit=ReadPosRankSum -chr1 1012158 . N . . END=1012158;POSITIVE_TRAIN_SITE;VQSLOD=2.2541;culprit=QD -chr1 1012809 . N . . END=1012809;VQSLOD=1.7431;culprit=SOR -chr1 1012810 . N . . END=1012810;VQSLOD=1.5073;culprit=QD -chr1 1013312 . N . . END=1013312;POSITIVE_TRAIN_SITE;VQSLOD=4.1490;culprit=QD -chr1 1013466 . N . . END=1013466;VQSLOD=-0.6701;culprit=QD -chr1 1013490 . N . . END=1013490;POSITIVE_TRAIN_SITE;VQSLOD=1.2462;culprit=QD -chr1 1013541 . N . . END=1013541;POSITIVE_TRAIN_SITE;VQSLOD=17.1283;culprit=DP -chr1 1013855 . N . . END=1013855;POSITIVE_TRAIN_SITE;VQSLOD=1.7447;culprit=QD -chr1 1014228 . N . . END=1014228;POSITIVE_TRAIN_SITE;VQSLOD=78.2800;culprit=QD -chr1 1014274 . N . . END=1014274;POSITIVE_TRAIN_SITE;VQSLOD=30.2510;culprit=SOR -chr1 1014545 . N . . END=1014545;POSITIVE_TRAIN_SITE;VQSLOD=0.5485;culprit=SOR -chr1 1019636 . N . . END=1019636;VQSLOD=0.3352;culprit=SOR -chr1 1019833 . N . . END=1019833;VQSLOD=-0.9881;culprit=SOR -chr1 1020217 . N . . END=1020217;VQSLOD=3.3761;culprit=DP -chr1 1021740 . N . . END=1021740;POSITIVE_TRAIN_SITE;VQSLOD=2.0086;culprit=SOR -chr1 1026830 . N . . END=1026830;POSITIVE_TRAIN_SITE;VQSLOD=1.2042;culprit=QD -chr1 1031917 . N . . END=1031917;VQSLOD=0.2545;culprit=QD -chr1 1035987 . N . . END=1035987;POSITIVE_TRAIN_SITE;VQSLOD=3.9336;culprit=SOR -chr1 1036754 . N . . END=1036754;POSITIVE_TRAIN_SITE;VQSLOD=1.1846;culprit=SOR -chr1 1037505 . N . . END=1037505;VQSLOD=4.4992;culprit=QD -chr1 1037956 . N . . END=1037956;POSITIVE_TRAIN_SITE;VQSLOD=1.9919;culprit=SOR -chr1 1037997 . N . . END=1037997;POSITIVE_TRAIN_SITE;VQSLOD=1.9273;culprit=DP -chr1 1038078 . N . . END=1038078;POSITIVE_TRAIN_SITE;VQSLOD=-0.1467;culprit=FS -chr1 1038288 . N . . END=1038288;POSITIVE_TRAIN_SITE;VQSLOD=0.8936;culprit=SOR -chr1 1038762 . N . . END=1038762;VQSLOD=5.9578;culprit=QD -chr1 1038800 . N . . END=1038800;POSITIVE_TRAIN_SITE;VQSLOD=2.4462;culprit=DP -chr1 1038819 . N . . END=1038819;POSITIVE_TRAIN_SITE;VQSLOD=2.0140;culprit=DP -chr1 1038845 . N . . END=1038845;POSITIVE_TRAIN_SITE;VQSLOD=1.2407;culprit=DP -chr1 1038916 . N . . END=1038916;POSITIVE_TRAIN_SITE;VQSLOD=2.0393;culprit=QD -chr1 1039114 . N . . END=1039114;POSITIVE_TRAIN_SITE;VQSLOD=0.9990;culprit=QD -chr1 1039411 . N . . END=1039411;VQSLOD=0.6390;culprit=DP -chr1 1039514 . N . . END=1039514;POSITIVE_TRAIN_SITE;VQSLOD=3.5912;culprit=QD -chr1 1039753 . N . . END=1039753;POSITIVE_TRAIN_SITE;VQSLOD=-0.3006;culprit=SOR -chr1 1040322 . N . . END=1040322;POSITIVE_TRAIN_SITE;VQSLOD=2.0434;culprit=SOR -chr1 1041492 . N . . END=1041492;VQSLOD=5.0302;culprit=ReadPosRankSum -chr1 1041950 . N . . END=1041950;POSITIVE_TRAIN_SITE;VQSLOD=1.6954;culprit=SOR -chr1 1042190 . N . . END=1042190;POSITIVE_TRAIN_SITE;VQSLOD=1.4917;culprit=QD -chr1 1042767 . N . . END=1042768;VQSLOD=4.9027;culprit=ReadPosRankSum -chr1 1043295 . N . . END=1043295;VQSLOD=5.6117;culprit=QD -chr1 1044368 . N . . END=1044368;NEGATIVE_TRAIN_SITE;POSITIVE_TRAIN_SITE;VQSLOD=-1.4563;culprit=QD -chr1 1045707 . N . . END=1045707;POSITIVE_TRAIN_SITE;VQSLOD=3.3359;culprit=SOR -chr1 1046551 . N . . END=1046551;POSITIVE_TRAIN_SITE;VQSLOD=2.1381;culprit=SOR -chr1 1047064 . N . . END=1047064;POSITIVE_TRAIN_SITE;VQSLOD=4.0338;culprit=DP -chr1 1047082 . N . . END=1047082;POSITIVE_TRAIN_SITE;VQSLOD=1.1495;culprit=DP -chr1 1047133 . N . . END=1047133;POSITIVE_TRAIN_SITE;VQSLOD=2.4998;culprit=QD -chr1 1047233 . N . . END=1047233;VQSLOD=4.7759;culprit=ReadPosRankSum -chr1 1047614 . N . . END=1047614;POSITIVE_TRAIN_SITE;VQSLOD=2.5224;culprit=QD -chr1 1048912 . N . . END=1048912;VQSLOD=5.4348;culprit=QD -chr1 1052857 . N . . END=1052859;VQSLOD=0.3771;culprit=QD -chr1 1054866 . N . . END=1054866;VQSLOD=5.1479;culprit=QD -chr1 1055000 . N . . END=1055000;POSITIVE_TRAIN_SITE;VQSLOD=3.7836;culprit=FS -chr1 1055037 . N . . END=1055037;POSITIVE_TRAIN_SITE;VQSLOD=3.7302;culprit=QD -chr1 1055137 . N . . END=1055137;POSITIVE_TRAIN_SITE;VQSLOD=4.9017;culprit=DP -chr1 1055393 . N . . END=1055393;POSITIVE_TRAIN_SITE;VQSLOD=3.4445;culprit=DP -chr1 1055426 . N . . END=1055426;POSITIVE_TRAIN_SITE;VQSLOD=3.3117;culprit=QD -chr1 1055604 . N . . END=1055604;POSITIVE_TRAIN_SITE;VQSLOD=2.7789;culprit=DP -chr1 1063121 . N . . END=1063121;NEGATIVE_TRAIN_SITE;POSITIVE_TRAIN_SITE;VQSLOD=-12.6595;culprit=SOR -chr1 1066726 . N . . END=1066726;VQSLOD=5.1838;culprit=QD -chr1 1067007 . N . . END=1067007;POSITIVE_TRAIN_SITE;VQSLOD=15.3043;culprit=QD -chr1 1067159 . N . . END=1067159;POSITIVE_TRAIN_SITE;VQSLOD=6.8275;culprit=QD -chr1 1068165 . N . . END=1068165;VQSLOD=4.7576;culprit=ReadPosRankSum -chr1 1068249 . N . . END=1068249;POSITIVE_TRAIN_SITE;VQSLOD=7.7163;culprit=QD -chr1 1068664 . N . . END=1068664;NEGATIVE_TRAIN_SITE;VQSLOD=-15.2591;culprit=DP -chr1 1068727 . N . . END=1068727;VQSLOD=-168.3079;culprit=MQRankSum -chr1 1068951 . N . . END=1068951;POSITIVE_TRAIN_SITE;VQSLOD=2.1141;culprit=QD -chr1 1071610 . N . . END=1071610;POSITIVE_TRAIN_SITE;VQSLOD=11.1020;culprit=DP -chr1 1071750 . N . . END=1071751;VQSLOD=5.2952;culprit=QD -chr1 1071823 . N . . END=1071823;POSITIVE_TRAIN_SITE;VQSLOD=6.0090;culprit=ReadPosRankSum -chr1 1071842 . N . . END=1071842;POSITIVE_TRAIN_SITE;VQSLOD=5.9243;culprit=ReadPosRankSum -chr1 1071872 . N . . END=1071872;VQSLOD=-0.5227;culprit=SOR -chr1 1072067 . N . . END=1072067;VQSLOD=4.9019;culprit=ReadPosRankSum -chr1 1074098 . N . . END=1074098;POSITIVE_TRAIN_SITE;VQSLOD=6.0164;culprit=QD -chr1 1080437 . N . . END=1080437;POSITIVE_TRAIN_SITE;VQSLOD=2.5636;culprit=SOR -chr1 1081961 . N . . END=1081961;POSITIVE_TRAIN_SITE;VQSLOD=11.3417;culprit=FS -chr1 1082207 . N . . END=1082207;POSITIVE_TRAIN_SITE;VQSLOD=12.3593;culprit=FS -chr1 1085966 . N . . END=1085966;POSITIVE_TRAIN_SITE;VQSLOD=6.3879;culprit=FS -chr1 1090943 . N . . END=1090943;VQSLOD=4.7039;culprit=ReadPosRankSum -chr1 1091421 . N . . END=1091421;POSITIVE_TRAIN_SITE;VQSLOD=1.8291;culprit=SOR -chr1 1094198 . N . . END=1094198;VQSLOD=0.8507;culprit=DP -chr1 1095185 . N . . END=1095185;POSITIVE_TRAIN_SITE;VQSLOD=6.7651;culprit=QD -chr1 1095242 . N . . END=1095242;NEGATIVE_TRAIN_SITE;VQSLOD=-2.3757;culprit=SOR -chr1 1096160 . N . . END=1096160;POSITIVE_TRAIN_SITE;VQSLOD=2.5231;culprit=SOR -chr1 1096593 . N . . END=1096593;POSITIVE_TRAIN_SITE;VQSLOD=7.3558;culprit=ReadPosRankSum -chr1 1096804 . N . . END=1096804;POSITIVE_TRAIN_SITE;VQSLOD=2.9471;culprit=SOR -chr1 1097893 . N . . END=1097893;VQSLOD=-0.1433;culprit=QD -chr1 1098619 . N . . END=1098619;POSITIVE_TRAIN_SITE;VQSLOD=2.3805;culprit=SOR -chr1 1112230 . N . . END=1112230;VQSLOD=4.7013;culprit=ReadPosRankSum -chr1 1112351 . N . . END=1112351;VQSLOD=0.8206;culprit=SOR -chr1 1112385 . N . . END=1112385;VQSLOD=1.1102;culprit=SOR -chr1 1112865 . N . . END=1112865;VQSLOD=4.5410;culprit=ReadPosRankSum -chr1 1112892 . N . . END=1112892;VQSLOD=4.8346;culprit=ReadPosRankSum -chr1 1112897 . N . . END=1112897;VQSLOD=5.0870;culprit=ReadPosRankSum -chr1 1112951 . N . . END=1112951;VQSLOD=6.0215;culprit=QD -chr1 1112952 . N . . END=1112952;VQSLOD=5.8134;culprit=FS -chr1 1113318 . N . . END=1113318;VQSLOD=4.9684;culprit=ReadPosRankSum -chr1 1113490 . N . . END=1113490;VQSLOD=5.7393;culprit=DP -chr1 1113525 . N . . END=1113525;VQSLOD=5.2540;culprit=DP -chr1 1114590 . N . . END=1114590;VQSLOD=4.7476;culprit=ReadPosRankSum -chr1 1114927 . N . . END=1114928;VQSLOD=0.6332;culprit=SOR -chr1 1130087 . N . . END=1130087;VQSLOD=0.6837;culprit=QD -chr1 1153882 . N . . END=1153882;POSITIVE_TRAIN_SITE;VQSLOD=2.2748;culprit=SOR -chr1 1158233 . N . . END=1158233;NEGATIVE_TRAIN_SITE;VQSLOD=-3.7542;culprit=QD -chr1 1158404 . N . . END=1158404;VQSLOD=4.7423;culprit=ReadPosRankSum -chr1 1160239 . N . . END=1160239;VQSLOD=-0.8791;culprit=QD -chr1 1160818 . N . . END=1160818;POSITIVE_TRAIN_SITE;VQSLOD=6.1168;culprit=ReadPosRankSum -chr1 1161720 . N . . END=1161720;POSITIVE_TRAIN_SITE;VQSLOD=1.4191;culprit=SOR -chr1 1161907 . N . . END=1161907;VQSLOD=0.6503;culprit=SOR -chr1 1162886 . N . . END=1162886;VQSLOD=4.2118;culprit=ReadPosRankSum -chr1 1163041 . N . . END=1163041;POSITIVE_TRAIN_SITE;VQSLOD=6.8640;culprit=DP -chr1 1163178 . N . . END=1163178;VQSLOD=5.1534;culprit=QD -chr1 1163440 . N . . END=1163442;VQSLOD=-0.1906;culprit=DP -chr1 1163962 . N . . END=1163962;POSITIVE_TRAIN_SITE;VQSLOD=3.7134;culprit=QD -chr1 1164837 . N . . END=1164837;POSITIVE_TRAIN_SITE;VQSLOD=3.1981;culprit=QD -chr1 1164939 . N . . END=1164939;POSITIVE_TRAIN_SITE;VQSLOD=5.2861;culprit=ReadPosRankSum -chr1 1165623 . N . . END=1165623;POSITIVE_TRAIN_SITE;VQSLOD=1.7669;culprit=QD -chr1 1165943 . N . . END=1165943;VQSLOD=5.2206;culprit=FS -chr1 1166689 . N . . END=1166689;POSITIVE_TRAIN_SITE;VQSLOD=4.4329;culprit=DP -chr1 1167682 . N . . END=1167682;VQSLOD=4.7435;culprit=QD -chr1 1167762 . N . . END=1167762;VQSLOD=4.9895;culprit=QD -chr1 1168162 . N . . END=1168162;POSITIVE_TRAIN_SITE;VQSLOD=1.3105;culprit=QD -chr1 1168310 . N . . END=1168310;VQSLOD=4.7459;culprit=ReadPosRankSum -chr1 1168578 . N . . END=1168578;POSITIVE_TRAIN_SITE;VQSLOD=1.6577;culprit=SOR -chr1 1168643 . N . . END=1168643;VQSLOD=4.1291;culprit=ReadPosRankSum -chr1 1169204 . N . . END=1169204;POSITIVE_TRAIN_SITE;VQSLOD=2.5128;culprit=QD -chr1 1169591 . N . . END=1169591;VQSLOD=5.4188;culprit=ReadPosRankSum -chr1 1169858 . N . . END=1169858;POSITIVE_TRAIN_SITE;VQSLOD=1.5331;culprit=SOR -chr1 1221034 . N . . END=1221034;VQSLOD=4.8830;culprit=DP -chr1 1221498 . N . . END=1221498;NEGATIVE_TRAIN_SITE;VQSLOD=-11.3431;culprit=SOR -chr1 1223251 . N . . END=1223251;POSITIVE_TRAIN_SITE;VQSLOD=6.7919;culprit=ReadPosRankSum -chr1 1224137 . N . . END=1224137;POSITIVE_TRAIN_SITE;VQSLOD=1.6288;culprit=QD -chr1 1226946 . N . . END=1226946;POSITIVE_TRAIN_SITE;VQSLOD=1.5556;culprit=SOR -chr1 1232278 . N . . END=1232278;VQSLOD=5.0175;culprit=QD -chr2 130229486 . N . . END=130229486;NEGATIVE_TRAIN_SITE;VQSLOD=-18.9844;culprit=MQ -chr2 130229492 . N . . END=130229492;NEGATIVE_TRAIN_SITE;VQSLOD=-7.8499;culprit=MQ -chr2 130229520 . N . . END=130229520;NEGATIVE_TRAIN_SITE;VQSLOD=-12.2454;culprit=MQ -chr2 130229579 . N . . END=130229579;NEGATIVE_TRAIN_SITE;VQSLOD=-17.0623;culprit=MQ -chr2 130229607 . N . . END=130229607;NEGATIVE_TRAIN_SITE;VQSLOD=-30.9230;culprit=SOR -chr2 130229647 . N . . END=130229647;VQSLOD=1.2417;culprit=MQ -chr2 130229689 . N . . END=130229689;VQSLOD=0.3774;culprit=MQ -chr2 130229709 . N . . END=130229709;VQSLOD=0.3174;culprit=MQ -chr2 130229735 . N . . END=130229735;NEGATIVE_TRAIN_SITE;VQSLOD=-5.6201;culprit=MQ -chr2 130229747 . N . . END=130229747;VQSLOD=1.6463;culprit=MQ -chr2 130229753 . N . . END=130229753;VQSLOD=-2.7244;culprit=MQ -chr2 130229756 . N . . END=130229756;VQSLOD=-2.0356;culprit=MQ -chr2 130229803 . N . . END=130229803;NEGATIVE_TRAIN_SITE;VQSLOD=-4.0875;culprit=FS -chr2 130229817 . N . . END=130229817;VQSLOD=-0.4943;culprit=MQ -chr2 130229920 . N . . END=130229920;NEGATIVE_TRAIN_SITE;VQSLOD=-8.2464;culprit=MQ -chr2 130229974 . N . . END=130229974;NEGATIVE_TRAIN_SITE;VQSLOD=-3.7072;culprit=MQ -chr2 130229975 . N . . END=130229975;NEGATIVE_TRAIN_SITE;VQSLOD=-6.7818;culprit=MQ -chr2 130230633 . N . . END=130230633;VQSLOD=0.2595;culprit=FS -chr2 130230668 . N . . END=130230668;VQSLOD=-2.6502;culprit=MQ -chr2 130230679 . N . . END=130230679;NEGATIVE_TRAIN_SITE;VQSLOD=-2.6430;culprit=MQ -chr2 130230727 . N . . END=130230727;VQSLOD=-2.4832;culprit=MQ -chr2 130230790 . N . . END=130230790;VQSLOD=-3.3848;culprit=MQ -chr2 130230924 . N . . END=130230924;NEGATIVE_TRAIN_SITE;VQSLOD=-5.2693;culprit=MQ -chr2 130231008 . N . . END=130231008;NEGATIVE_TRAIN_SITE;VQSLOD=-22.1293;culprit=MQ -chr2 130231176 . N . . END=130231176;NEGATIVE_TRAIN_SITE;VQSLOD=-8.7890;culprit=MQ -chr2 130231189 . N . . END=130231189;NEGATIVE_TRAIN_SITE;VQSLOD=-7.5496;culprit=MQ -chr2 130231202 . N . . END=130231202;VQSLOD=1.0953;culprit=MQ -chr2 130231206 . N . . END=130231206;NEGATIVE_TRAIN_SITE;VQSLOD=-54.4309;culprit=MQRankSum -chr2 130231240 . N . . END=130231240;VQSLOD=2.4513;culprit=MQ -chr2 130231320 . N . . END=130231320;VQSLOD=-0.8324;culprit=DP -chr2 131442793 . N . . END=131442793;VQSLOD=-1.1201;culprit=MQ -chr2 131442797 . N . . END=131442797;VQSLOD=-2.2445;culprit=MQ -chr2 131442810 . N . . END=131442810;VQSLOD=-2.0167;culprit=MQ -chr2 131442829 . N . . END=131442829;VQSLOD=-2.0607;culprit=MQ -chr2 131442842 . N . . END=131442842;VQSLOD=-2.0541;culprit=MQ -chr2 131442846 . N . . END=131442846;VQSLOD=-2.0519;culprit=MQ -chr2 131443009 . N . . END=131443009;NEGATIVE_TRAIN_SITE;VQSLOD=-17.9751;culprit=MQ -chr2 131443024 . N . . END=131443024;NEGATIVE_TRAIN_SITE;VQSLOD=-11.9969;culprit=MQ -chr2 131443048 . N . . END=131443048;NEGATIVE_TRAIN_SITE;VQSLOD=-32.7587;culprit=MQ -chr2 131443052 . N . . END=131443052;VQSLOD=-0.3002;culprit=MQ -chr2 131443065 . N . . END=131443065;NEGATIVE_TRAIN_SITE;VQSLOD=-14.8330;culprit=MQ -chr2 131443078 . N . . END=131443078;VQSLOD=-0.5539;culprit=MQ -chr2 131443100 . N . . END=131443100;VQSLOD=-1.0406;culprit=MQ -chr2 131443144 . N . . END=131443144;NEGATIVE_TRAIN_SITE;VQSLOD=-13.7293;culprit=SOR -chr2 131443146 . N . . END=131443146;NEGATIVE_TRAIN_SITE;VQSLOD=-13.3867;culprit=SOR -chr2 131443797 . N . . END=131443797;NEGATIVE_TRAIN_SITE;VQSLOD=-3.1156;culprit=MQ -chr2 131443801 . N . . END=131443801;NEGATIVE_TRAIN_SITE;VQSLOD=-4.2516;culprit=MQ -chr2 131443807 . N . . END=131443807;NEGATIVE_TRAIN_SITE;VQSLOD=-4.2062;culprit=MQ -chr2 131443869 . N . . END=131443869;NEGATIVE_TRAIN_SITE;VQSLOD=-6.0218;culprit=MQ -chr2 131443961 . N . . END=131443961;VQSLOD=0.5112;culprit=MQ -chr2 131443973 . N . . END=131443973;VQSLOD=-0.3288;culprit=MQ -chr2 131444000 . N . . END=131444000;VQSLOD=-1.0082;culprit=MQ -chr2 131444009 . N . . END=131444009;NEGATIVE_TRAIN_SITE;POSITIVE_TRAIN_SITE;VQSLOD=-10.3666;culprit=MQ -chr2 131444045 . N . . END=131444045;VQSLOD=-0.0091;culprit=MQ -chr2 131444062 . N . . END=131444062;NEGATIVE_TRAIN_SITE;VQSLOD=-11.7330;culprit=MQ -chr2 131444082 . N . . END=131444082;VQSLOD=-0.7678;culprit=MQ -chr8 213370 . N . . END=213370;VQSLOD=-1.6261;culprit=MQ -chr8 213387 . N . . END=213387;NEGATIVE_TRAIN_SITE;VQSLOD=-7.6313;culprit=MQ -chr8 213438 . N . . END=213438;POSITIVE_TRAIN_SITE;VQSLOD=3.3087;culprit=MQ -chrMT 9774 . N . . END=9774;NEGATIVE_TRAIN_SITE;VQSLOD=-13.8532;culprit=ReadPosRankSum diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/htcaller/s001_variants.1rd.recal.vcf.idx b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/htcaller/s001_variants.1rd.recal.vcf.idx deleted file mode 100644 index a06864a..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/htcaller/s001_variants.1rd.recal.vcf.idx and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/htcaller/s001_variants.1rd.tranches b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/htcaller/s001_variants.1rd.tranches deleted file mode 100644 index 21906f0..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/htcaller/s001_variants.1rd.tranches +++ /dev/null @@ -1,7 +0,0 @@ -# Variant quality score tranches file -# Version number 5 -targetTruthSensitivity,numKnown,numNovel,knownTiTv,novelTiTv,minVQSLod,filterName,model,accessibleTruthSites,callsAtTruthSites,truthSensitivity -90.00,0,301,0.0000,3.0290,0.0352,VQSRTrancheBOTH0.00to90.00,BOTH,207,186,0.8986 -99.00,0,387,0.0000,2.6701,-12.2454,VQSRTrancheBOTH90.00to99.00,BOTH,207,204,0.9855 -99.90,0,389,0.0000,2.6531,-13.0279,VQSRTrancheBOTH99.00to99.90,BOTH,207,206,0.9952 -100.00,0,418,0.0000,2.6827,-168.3079,VQSRTrancheBOTH99.90to100.00,BOTH,207,207,1.0000 diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/htcaller/s001_variants.1rd.vcf.gz b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/htcaller/s001_variants.1rd.vcf.gz deleted file mode 100644 index ec13fde..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/htcaller/s001_variants.1rd.vcf.gz and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/htcaller/s001_variants.1rd.vcf.gz.tbi b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/htcaller/s001_variants.1rd.vcf.gz.tbi deleted file mode 100644 index 5543964..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/htcaller/s001_variants.1rd.vcf.gz.tbi and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/htcaller/s001_variants.1rd/chr1.vcf b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/htcaller/s001_variants.1rd/chr1.vcf deleted file mode 100644 index cf641b1..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/htcaller/s001_variants.1rd/chr1.vcf +++ /dev/null @@ -1,408 +0,0 @@ -##fileformat=VCFv4.2 -##FILTER= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##GATKCommandLine= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##source=HaplotypeCaller -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT unknown -chr1 190768 . G A 41.32 . AC=2;AF=1.00;AN=2;DP=2;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=22.00;QD=20.66;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:53,6,0 -chr1 778034 . GAA G 64.60 . AC=1;AF=0.500;AN=2;BaseQRankSum=0.000;DP=5;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=52.75;MQRankSum=1.383;QD=16.15;ReadPosRankSum=-1.383;SOR=0.693 GT:AD:DP:GQ:PL 0/1:2,2:4:72:72,0,78 -chr1 778051 . T C 64.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=0.524;DP=5;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=52.75;MQRankSum=-0.674;QD=12.93;ReadPosRankSum=0.674;SOR=0.368 GT:AD:DP:GQ:PL 0/1:3,2:5:72:72,0,101 -chr1 778082 . T C 73.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=0.967;DP=3;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=47.30;MQRankSum=0.967;QD=24.55;ReadPosRankSum=-0.967;SOR=0.223 GT:AD:DP:GQ:PL 0/1:1,2:3:36:81,0,36 -chr1 778083 . T C 73.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=0.000;DP=3;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=47.30;MQRankSum=0.967;QD=24.55;ReadPosRankSum=-0.967;SOR=0.223 GT:AD:DP:GQ:PL 0/1:1,2:3:36:81,0,36 -chr1 778906 . G T 77.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=-0.524;DP=5;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=34.16;MQRankSum=-1.645;QD=15.53;ReadPosRankSum=-1.645;SOR=1.179 GT:AD:DP:GQ:PL 0/1:2,3:5:71:85,0,71 -chr1 778984 . G A 56.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=-0.431;DP=3;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=31.35;MQRankSum=0.967;QD=18.88;ReadPosRankSum=0.967;SOR=0.223 GT:AD:DP:GQ:PL 0/1:1,2:3:26:64,0,26 -chr1 779196 . G T 52.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=0.253;DP=10;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=52.76;MQRankSum=1.501;QD=5.26;ReadPosRankSum=-0.967;SOR=0.693 GT:AD:DP:GQ:PL 0/1:8,2:10:60:60,0,291 -chr1 779968 . T G 421.06 . AC=2;AF=1.00;AN=2;DP=13;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=43.95;QD=25.36;SOR=0.859 GT:AD:DP:GQ:PL 1/1:0,11:11:33:435,33,0 -chr1 781047 . C T 31.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=0.000;DP=6;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=22.69;MQRankSum=1.834;QD=5.27;ReadPosRankSum=-0.842;SOR=0.693 GT:AD:DP:GQ:PL 0/1:4,2:6:39:39,0,89 -chr1 783175 . T C 105.84 . AC=2;AF=1.00;AN=2;DP=3;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=38.09;QD=28.73;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,3:3:9:119,9,0 -chr1 794299 . C G 66.32 . AC=2;AF=1.00;AN=2;DP=2;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=34.00;QD=33.16;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:78,6,0 -chr1 797585 . G T 60.32 . AC=2;AF=1.00;AN=2;DP=2;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=31.00;QD=30.16;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:72,6,0 -chr1 817186 . G A 378.06 . AC=2;AF=1.00;AN=2;DP=12;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=53.45;QD=34.37;SOR=0.859 GT:AD:DP:GQ:PL 1/1:0,11:11:32:392,32,0 -chr1 817233 . CA C 33.60 . AC=1;AF=0.500;AN=2;BaseQRankSum=0.728;DP=11;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=53.94;MQRankSum=-2.287;QD=3.36;ReadPosRankSum=-0.493;SOR=0.368 GT:AD:DP:GQ:PL 0/1:8,2:10:41:41,0,255 -chr1 817257 . T C 231.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=2.128;DP=10;ExcessHet=0.0000;FS=2.808;MLEAC=1;MLEAF=0.500;MQ=53.29;MQRankSum=1.016;QD=23.16;ReadPosRankSum=-0.405;SOR=1.108 GT:AD:DP:GQ:PL 0/1:4,6:10:99:239,0,113 -chr1 817341 . A G,AG 416.06 . AC=1,1;AF=0.500,0.500;AN=2;DP=11;ExcessHet=0.0000;FS=0.000;MLEAC=1,1;MLEAF=0.500,0.500;MQ=60.00;QD=30.97;SOR=0.859 GT:AD:DP:GQ:PL 1/2:0,9,2:11:34:433,61,34,303,0,274 -chr1 818094 . C G 84.84 . AC=2;AF=1.00;AN=2;DP=3;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=28.00;QD=28.28;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,3:3:9:98,9,0 -chr1 818802 . A G 255.97 . AC=2;AF=1.00;AN=2;DP=6;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=43.82;QD=27.24;SOR=1.329 GT:AD:DP:GQ:PL 1/1:0,6:6:18:270,18,0 -chr1 818812 . A G 255.97 . AC=2;AF=1.00;AN=2;DP=6;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=43.82;QD=28.20;SOR=1.329 GT:AD:DP:GQ:PL 1/1:0,6:6:18:270,18,0 -chr1 818954 . T C 102.84 . AC=2;AF=1.00;AN=2;DP=3;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=40.98;QD=34.28;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,3:3:9:116,9,0 -chr1 819123 . G A 244.97 . AC=2;AF=1.00;AN=2;DP=6;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=55.43;QD=25.00;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,6:6:18:259,18,0 -chr1 819584 . C T 39.32 . AC=2;AF=1.00;AN=2;DP=2;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=21.00;QD=19.66;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:51,6,0 -chr1 820395 . A G 78.32 . AC=2;AF=1.00;AN=2;DP=2;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=29.56;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 822354 . C T 57.32 . AC=2;AF=1.00;AN=2;DP=2;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=28.66;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:69,6,0 -chr1 822764 . A G 75.32 . AC=2;AF=1.00;AN=2;DP=2;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=30.62;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:87,6,0 -chr1 822944 . T C 78.32 . AC=2;AF=1.00;AN=2;DP=2;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=28.17;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 823246 . C T 78.32 . AC=2;AF=1.00;AN=2;DP=2;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=26.80;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 825767 . T C 163.14 . AC=2;AF=1.00;AN=2;DP=4;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=44.02;QD=26.00;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,4:4:12:177,12,0 -chr1 837375 . A C 74.32 . AC=2;AF=1.00;AN=2;DP=2;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=38.00;QD=30.02;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:86,6,0 -chr1 839183 . GA G 36.60 . AC=1;AF=0.500;AN=2;BaseQRankSum=0.253;DP=6;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=23.36;MQRankSum=-1.501;QD=6.10;ReadPosRankSum=0.000;SOR=0.223 GT:AD:DP:GQ:PL 0/1:4,2:6:44:44,0,103 -chr1 839356 . A C 67.32 . AC=2;AF=1.00;AN=2;DP=2;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=36.78;QD=33.66;SOR=2.303 GT:AD:DP:GQ:PL 1/1:0,2:2:6:79,6,0 -chr1 841742 . A T 745.06 . AC=2;AF=1.00;AN=2;DP=26;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=33.86;QD=33.87;SOR=0.874 GT:AD:DP:GQ:PL 1/1:0,22:22:66:759,66,0 -chr1 842922 . C CCT 333 . AC=2;AF=1.00;AN=2;DP=11;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=34.36;QD=31.98;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,8:8:24:347,24,0 -chr1 843189 . A G 768.06 . AC=2;AF=1.00;AN=2;DP=25;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=30.41;QD=32.00;SOR=0.859 GT:AD:DP:GQ:PL 1/1:0,24:24:72:782,72,0 -chr1 844647 . G T 333.04 . AC=2;AF=1.00;AN=2;DP=8;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=47.72;QD=27.51;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,8:8:24:347,24,0 -chr1 845405 . T A 316.04 . AC=2;AF=1.00;AN=2;DP=8;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=54.22;QD=29.11;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,8:8:24:330,24,0 -chr1 849670 . G A 194.96 . AC=2;AF=1.00;AN=2;DP=5;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=46.79;QD=28.08;SOR=1.022 GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 -chr1 851882 . C G 140.14 . AC=2;AF=1.00;AN=2;DP=4;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=46.70;QD=23.23;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,4:4:12:154,12,0 -chr1 852019 . G T 809.66 . AC=1;AF=0.500;AN=2;BaseQRankSum=2.234;DP=24;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=49.04;MQRankSum=-1.428;QD=29.03;ReadPosRankSum=-0.492;SOR=0.990 GT:AD:DP:GQ:PL 0/1:2,21:23:13:817,0,13 -chr1 852305 . G T 39.32 . AC=2;AF=1.00;AN=2;DP=2;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=21.00;QD=19.66;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:51,6,0 -chr1 853565 . G C 78.32 . AC=2;AF=1.00;AN=2;DP=3;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=23.98;QD=30.67;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 853572 . G A 78.32 . AC=2;AF=1.00;AN=2;DP=2;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=24.91;QD=26.61;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 855378 . GTA G 121.80 . AC=2;AF=1.00;AN=2;DP=4;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=49.76;QD=29.20;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 -chr1 856883 . A G 220.05 . AC=2;AF=1.00;AN=2;DP=11;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=26.70;QD=24.45;SOR=0.892 GT:AD:DP:GQ:PL 1/1:0,9:9:27:234,27,0 -chr1 857100 . C T 397.06 . AC=2;AF=1.00;AN=2;DP=16;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=22.09;QD=24.82;SOR=0.941 GT:AD:DP:GQ:PL 1/1:0,16:16:48:411,48,0 -chr1 897018 . T C 67.32 . AC=2;AF=1.00;AN=2;DP=2;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=47.12;QD=33.66;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:79,6,0 -chr1 901763 . A G 70.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=0.000;DP=4;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=17.66;ReadPosRankSum=-1.383;SOR=0.693 GT:AD:DP:GQ:PL 0/1:2,2:4:78:78,0,78 -chr1 902641 . C T 75.32 . AC=2;AF=1.00;AN=2;DP=2;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=28.55;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:87,6,0 -chr1 902949 . G GC 53.28 . AC=2;AF=1.00;AN=2;DP=2;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=26.64;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:65,6,0 -chr1 903007 . T C 78.32 . AC=2;AF=1.00;AN=2;DP=2;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=34.42;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 904947 . G A 145.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=0.000;DP=9;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=16.18;ReadPosRankSum=-0.531;SOR=0.446 GT:AD:DP:GQ:PL 0/1:5,4:9:99:153,0,198 -chr1 905705 . C G 181.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=0.998;DP=13;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=15.14;ReadPosRankSum=0.227;SOR=0.760 GT:AD:DP:GQ:PL 0/1:7,5:12:99:189,0,267 -chr1 906633 . T G 121.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=0.908;DP=13;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=11.06;ReadPosRankSum=0.176;SOR=0.495 GT:AD:DP:GQ:PL 0/1:7,4:11:99:129,0,266 -chr1 906982 . C T 688.06 . AC=2;AF=1.00;AN=2;DP=17;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=28.53;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,16:16:48:702,48,0 -chr1 907022 . C A 322.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=-0.755;DP=16;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=20.16;ReadPosRankSum=0.568;SOR=0.732 GT:AD:DP:GQ:PL 0/1:7,9:16:99:330,0,264 -chr1 907236 . TAAA T 78.28 . AC=2;AF=1.00;AN=2;DP=4;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=27.23;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 907445 . A G 78.32 . AC=2;AF=1.00;AN=2;DP=2;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=29.52;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 908025 . A G 187.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=1.242;DP=9;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=20.85;ReadPosRankSum=-0.475;SOR=1.022 GT:AD:DP:GQ:PL 0/1:4,5:9:99:195,0,126 -chr1 908285 . A G 58.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=0.619;DP=8;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=7.33;ReadPosRankSum=-2.100;SOR=0.307 GT:AD:DP:GQ:PL 0/1:6,2:8:66:66,0,239 -chr1 909894 . G T 132.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=-0.842;DP=6;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=22.11;ReadPosRankSum=1.834;SOR=0.693 GT:AD:DP:GQ:PL 0/1:2,4:6:72:140,0,72 -chr1 909903 . G T 255.97 . AC=2;AF=1.00;AN=2;DP=6;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=33.47;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,6:6:18:270,18,0 -chr1 910255 . C T 174.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=-0.712;DP=7;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=24.95;ReadPosRankSum=-0.566;SOR=1.022 GT:AD:DP:GQ:PL 0/1:2,5:7:69:182,0,69 -chr1 910462 . G A 49.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=0.447;DP=12;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=4.51;ReadPosRankSum=0.660;SOR=0.527 GT:AD:DP:GQ:PL 0/1:9,2:11:57:57,0,360 -chr1 910558 . G A 193.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=0.151;DP=17;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=11.39;ReadPosRankSum=-0.453;SOR=0.551 GT:AD:DP:GQ:PL 0/1:11,6:17:99:201,0,406 -chr1 910698 . C T 106.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=0.566;DP=7;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=15.23;ReadPosRankSum=-0.144;SOR=1.179 GT:AD:DP:GQ:PL 0/1:4,3:7:99:114,0,156 -chr1 910958 . A G 480.06 . AC=2;AF=1.00;AN=2;DP=11;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=32.91;SOR=1.270 GT:AD:DP:GQ:PL 1/1:0,11:11:33:494,33,0 -chr1 911018 . G A 352.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=-2.213;DP=18;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=19.59;ReadPosRankSum=-1.089;SOR=0.627 GT:AD:DP:GQ:PL 0/1:7,11:18:99:360,0,261 -chr1 911109 . T C 773.06 . AC=2;AF=1.00;AN=2;DP=19;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=31.31;SOR=0.914 GT:AD:DP:GQ:PL 1/1:0,18:18:54:787,54,0 -chr1 911220 . CT C 398.02 . AC=2;AF=1.00;AN=2;DP=11;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=31.45;SOR=0.859 GT:AD:DP:GQ:PL 1/1:0,11:11:33:412,33,0 -chr1 911848 . C T 52.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=0.253;DP=10;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=5.26;ReadPosRankSum=-1.501;SOR=0.693 GT:AD:DP:GQ:PL 0/1:8,2:10:60:60,0,327 -chr1 911870 . G A 606.06 . AC=2;AF=1.00;AN=2;DP=14;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=33.27;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,14:14:42:620,42,0 -chr1 912111 . G A 61.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=-0.967;DP=7;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=10.27;ReadPosRankSum=-1.834;SOR=0.693 GT:AD:DP:GQ:PL 0/1:4,2:6:69:69,0,162 -chr1 912710 . G A 109.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=0.253;DP=6;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=21.93;ReadPosRankSum=-0.674;SOR=1.179 GT:AD:DP:GQ:PL 0/1:2,3:5:72:117,0,72 -chr1 913065 . G A 130.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=-1.111;DP=11;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=13.06;ReadPosRankSum=0.418;SOR=0.693 GT:AD:DP:GQ:PL 0/1:6,4:10:99:138,0,237 -chr1 913076 . A G 255.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=-0.615;DP=13;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=19.66;ReadPosRankSum=0.004;SOR=0.941 GT:AD:DP:GQ:PL 0/1:6,7:13:99:263,0,231 -chr1 913086 . C T 40.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=-1.098;DP=13;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=3.13;ReadPosRankSum=-0.496;SOR=0.551 GT:AD:DP:GQ:PL 0/1:11,2:13:48:48,0,448 -chr1 913274 . TG T 170.60 . AC=1;AF=0.500;AN=2;BaseQRankSum=1.616;DP=12;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=14.22;ReadPosRankSum=0.628;SOR=0.307 GT:AD:DP:GQ:PL 0/1:6,6:12:99:178,0,177 -chr1 913337 . C T 34.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=-0.728;DP=16;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=2.31;ReadPosRankSum=-0.426;SOR=0.569 GT:AD:DP:GQ:PL 0/1:13,2:15:42:42,0,515 -chr1 913358 . C T 211.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=-0.158;DP=14;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=16.28;ReadPosRankSum=0.980;SOR=0.495 GT:AD:DP:GQ:PL 0/1:7,6:13:99:219,0,264 -chr1 913870 . CCG C 52.60 . AC=1;AF=0.500;AN=2;BaseQRankSum=0.493;DP=13;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=5.26;ReadPosRankSum=1.221;SOR=0.693 GT:AD:DP:GQ:PL 0/1:8,2:10:60:60,0,330 -chr1 914618 . A G 383.05 . AC=2;AF=1.00;AN=2;DP=10;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=31.26;SOR=0.892 GT:AD:DP:GQ:PL 1/1:0,9:9:27:397,27,0 -chr1 915810 . G A 394.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=-0.428;DP=16;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=24.66;ReadPosRankSum=2.013;SOR=1.085 GT:AD:DP:GQ:PL 0/1:6,10:16:99:402,0,222 -chr1 915824 . G C 534.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=-0.967;DP=20;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=26.73;ReadPosRankSum=0.537;SOR=0.693 GT:AD:DP:GQ:PL 0/1:6,14:20:99:542,0,210 -chr1 916119 . A G 207.96 . AC=2;AF=1.00;AN=2;DP=5;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=27.76;SOR=1.981 GT:AD:DP:GQ:PL 1/1:0,5:5:15:222,15,0 -chr1 916377 . A G 166.14 . AC=2;AF=1.00;AN=2;DP=4;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=29.09;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,4:4:12:180,12,0 -chr1 916657 . G A 519.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=-0.709;DP=18;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=30.57;ReadPosRankSum=1.759;SOR=0.836 GT:AD:DP:GQ:PL 0/1:4,13:17:99:527,0,126 -chr1 916683 . G A 349.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=1.068;DP=16;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=23.31;ReadPosRankSum=0.806;SOR=0.892 GT:AD:DP:GQ:PL 0/1:6,9:15:99:357,0,210 -chr1 916753 . C T 518.06 . AC=2;AF=1.00;AN=2;DP=12;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=26.08;SOR=1.022 GT:AD:DP:GQ:PL 1/1:0,12:12:36:532,36,0 -chr1 917284 . C T 162.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=-1.335;DP=11;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=14.79;ReadPosRankSum=2.042;SOR=1.022 GT:AD:DP:GQ:PL 0/1:6,5:11:99:170,0,237 -chr1 917378 . G C 160.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=1.167;DP=19;ExcessHet=0.0000;FS=2.199;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=8.45;ReadPosRankSum=-0.697;SOR=1.565 GT:AD:DP:GQ:PL 0/1:14,5:19:99:168,0,531 -chr1 917495 . C T 504.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=-1.573;DP=22;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=22.94;ReadPosRankSum=-0.445;SOR=0.976 GT:AD:DP:GQ:PL 0/1:8,14:22:99:512,0,294 -chr1 917584 . T G 571.06 . AC=2;AF=1.00;AN=2;DP=13;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=33.85;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,13:13:39:585,39,0 -chr1 917859 . A G 166.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=-2.000;DP=12;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=13.89;ReadPosRankSum=-1.363;SOR=0.760 GT:AD:DP:GQ:PL 0/1:7,5:12:99:174,0,279 -chr1 918443 . C A 154.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=1.834;DP=7;ExcessHet=0.0000;FS=3.310;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=25.77;ReadPosRankSum=-1.834;SOR=0.105 GT:AD:DP:GQ:PL 0/1:2,4:6:65:162,0,65 -chr1 918574 . C A 176.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=-0.921;DP=8;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=22.08;ReadPosRankSum=-0.135;SOR=0.582 GT:AD:DP:GQ:PL 0/1:3,5:8:99:184,0,111 -chr1 918870 . A G 148.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=0.674;DP=8;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=18.58;ReadPosRankSum=-1.133;SOR=0.693 GT:AD:DP:GQ:PL 0/1:4,4:8:99:156,0,153 -chr1 918888 . T C 53.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=-0.180;DP=9;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=7.66;ReadPosRankSum=1.180;SOR=0.446 GT:AD:DP:GQ:PL 0/1:5,2:7:61:61,0,186 -chr1 919297 . A T 42.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=-0.674;DP=9;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=4.74;ReadPosRankSum=2.100;SOR=0.307 GT:AD:DP:GQ:PL 0/1:7,2:9:50:50,0,275 -chr1 919397 . A G 483.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=-0.451;DP=14;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=34.55;ReadPosRankSum=1.562;SOR=0.693 GT:AD:DP:GQ:PL 0/1:2,12:14:48:491,0,48 -chr1 919598 . A C 295.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=1.627;DP=19;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=15.56;ReadPosRankSum=-1.626;SOR=0.551 GT:AD:DP:GQ:PL 0/1:11,8:19:99:303,0,418 -chr1 919695 . C G 99.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=-0.792;DP=8;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=14.23;ReadPosRankSum=0.697;SOR=0.446 GT:AD:DP:GQ:PL 0/1:4,3:7:99:107,0,159 -chr1 920719 . T G 253.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=-0.166;DP=18;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=14.09;ReadPosRankSum=1.361;SOR=0.765 GT:AD:DP:GQ:PL 0/1:11,7:18:99:261,0,441 -chr1 920728 . A G 253.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=-0.907;DP=18;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=14.09;ReadPosRankSum=1.361;SOR=0.765 GT:AD:DP:GQ:PL 0/1:11,7:18:99:261,0,441 -chr1 921056 . TG T 40.60 . AC=1;AF=0.500;AN=2;BaseQRankSum=0.060;DP=7;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=5.80;ReadPosRankSum=0.876;SOR=0.446 GT:AD:DP:GQ:PL 0/1:5,2:7:48:48,0,146 -chr1 921096 . A G 101.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=0.385;DP=6;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=16.94;ReadPosRankSum=1.036;SOR=0.693 GT:AD:DP:GQ:PL 0/1:3,3:6:99:109,0,104 -chr1 922226 . C T 61.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=0.000;DP=7;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=8.81;ReadPosRankSum=0.000;SOR=0.446 GT:AD:DP:GQ:PL 0/1:5,2:7:69:69,0,204 -chr1 922348 . T G 360.67 . AC=1;AF=0.500;AN=2;BaseQRankSum=1.036;DP=10;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=27.08;ReadPosRankSum=-1.645;SOR=0.525 GT:AD:DP:GQ:PL 0/1:1,9:10:12:368,0,12 -chr1 922660 . C A 100.84 . AC=2;AF=1.00;AN=2;DP=3;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=33.61;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,3:3:9:114,9,0 -chr1 922671 . C T 121.84 . AC=2;AF=1.00;AN=2;DP=3;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=25.42;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 -chr1 924024 . C G 301.02 . AC=2;AF=1.00;AN=2;DP=7;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=27.65;SOR=0.941 GT:AD:DP:GQ:PL 1/1:0,7:7:21:315,21,0 -chr1 924305 . G A 103.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=0.000;DP=10;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=12.95;ReadPosRankSum=2.369;SOR=1.034 GT:AD:DP:GQ:PL 0/1:5,3:8:99:111,0,201 -chr1 924310 . C G 391.05 . AC=2;AF=1.00;AN=2;DP=9;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=29.48;SOR=0.892 GT:AD:DP:GQ:PL 1/1:0,9:9:27:405,27,0 -chr1 924314 . C A 100.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=0.000;DP=12;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=11.18;ReadPosRankSum=2.515;SOR=1.179 GT:AD:DP:GQ:PL 0/1:6,3:9:99:108,0,243 -chr1 924321 . C G 551.06 . AC=2;AF=1.00;AN=2;DP=15;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=30.56;SOR=0.836 GT:AD:DP:GQ:PL 1/1:0,13:13:39:565,39,0 -chr1 924533 . A G 1081.06 . AC=2;AF=1.00;AN=2;DP=25;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=33.63;SOR=0.941 GT:AD:DP:GQ:PL 1/1:0,25:25:75:1095,75,0 -chr1 925036 . G A 112.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=0.842;DP=6;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=22.53;ReadPosRankSum=-1.036;SOR=1.179 GT:AD:DP:GQ:PL 0/1:2,3:5:66:120,0,66 -chr1 925081 . G A 110.84 . AC=2;AF=1.00;AN=2;DP=3;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=30.55;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,3:3:9:124,9,0 -chr1 925628 . G C 166.14 . AC=2;AF=1.00;AN=2;DP=4;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=32.62;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,4:4:12:180,12,0 -chr1 926250 . G A 238.65 . AC=1;AF=0.500;AN=2;BaseQRankSum=1.465;DP=7;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=34.09;ReadPosRankSum=1.465;SOR=0.223 GT:AD:DP:GQ:PL 0/1:1,6:7:15:246,0,15 -chr1 926428 . A G 346.04 . AC=2;AF=1.00;AN=2;DP=10;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=29.33;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,8:8:24:360,24,0 -chr1 926713 . T C 121.84 . AC=2;AF=1.00;AN=2;DP=3;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=35.36;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 -chr1 926744 . A G 78.32 . AC=2;AF=1.00;AN=2;DP=4;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=34.30;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 927003 . C T 121.84 . AC=2;AF=1.00;AN=2;DP=3;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=27.00;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 -chr1 927009 . A G 121.84 . AC=2;AF=1.00;AN=2;DP=3;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=30.82;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 -chr1 927443 . C T 55.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=0.000;DP=9;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=6.18;ReadPosRankSum=-0.812;SOR=0.495 GT:AD:DP:GQ:PL 0/1:7,2:9:63:63,0,288 -chr1 927486 . C T 129.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=-0.623;DP=14;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=12.96;ReadPosRankSum=-0.006;SOR=0.307 GT:AD:DP:GQ:PL 0/1:6,4:10:99:137,0,237 -chr1 927744 . G T 475.06 . AC=2;AF=1.00;AN=2;DP=11;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=29.27;SOR=0.859 GT:AD:DP:GQ:PL 1/1:0,11:11:33:489,33,0 -chr1 928622 . G C 113.84 . AC=2;AF=1.00;AN=2;DP=3;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=35.92;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,3:3:9:127,9,0 -chr1 929346 . T A 121.84 . AC=2;AF=1.00;AN=2;DP=4;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=29.63;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 -chr1 929375 . A G 121.84 . AC=2;AF=1.00;AN=2;DP=3;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=28.76;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 -chr1 929377 . G A 121.84 . AC=2;AF=1.00;AN=2;DP=3;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=29.94;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 -chr1 930939 . G A 78.32 . AC=2;AF=1.00;AN=2;DP=2;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=31.54;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 931513 . T C 70.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=-0.431;DP=3;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=23.55;ReadPosRankSum=-0.967;SOR=0.223 GT:AD:DP:GQ:PL 0/1:1,2:3:36:78,0,36 -chr1 931540 . A G 160.14 . AC=2;AF=1.00;AN=2;DP=4;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=28.86;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,4:4:12:174,12,0 -chr1 931558 . G A 101.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=0.000;DP=6;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=16.94;ReadPosRankSum=-0.598;SOR=0.693 GT:AD:DP:GQ:PL 0/1:3,3:6:99:109,0,108 -chr1 932255 . C T 100.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=-1.036;DP=5;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=20.13;ReadPosRankSum=1.036;SOR=1.179 GT:AD:DP:GQ:PL 0/1:2,3:5:69:108,0,69 -chr1 932512 . G A 73.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=0.967;DP=3;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=24.55;ReadPosRankSum=0.967;SOR=0.223 GT:AD:DP:GQ:PL 0/1:1,2:3:33:81,0,33 -chr1 932613 . GTTTC G 78.28 . AC=2;AF=1.00;AN=2;DP=4;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=29.41;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 933511 . A G 78.32 . AC=2;AF=1.00;AN=2;DP=2;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=31.11;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 933548 . A AG 50.28 . AC=2;AF=1.00;AN=2;DP=2;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=25.14;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:62,6,0 -chr1 936972 . G C 166.14 . AC=2;AF=1.00;AN=2;DP=4;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=34.66;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,4:4:12:180,12,0 -chr1 938222 . G A 75.32 . AC=2;AF=1.00;AN=2;DP=2;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=29.40;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:87,6,0 -chr1 939038 . A C 78.32 . AC=2;AF=1.00;AN=2;DP=2;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=36.76;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 939864 . G A 56.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=-0.967;DP=6;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=9.44;ReadPosRankSum=0.000;SOR=0.693 GT:AD:DP:GQ:PL 0/1:4,2:6:64:64,0,162 -chr1 941119 . A G 72.32 . AC=2;AF=1.00;AN=2;DP=2;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=30.54;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 -chr1 941767 . G A 133.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=-0.967;DP=12;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=11.14;ReadPosRankSum=0.327;SOR=0.693 GT:AD:DP:GQ:PL 0/1:8,4:12:99:141,0,324 -chr1 942335 . C G 78.32 . AC=2;AF=1.00;AN=2;DP=2;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=21.53;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 942451 . T C 210.96 . AC=2;AF=1.00;AN=2;DP=5;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=34.87;SOR=1.981 GT:AD:DP:GQ:PL 1/1:0,5:5:15:225,15,0 -chr1 944296 . G A 4387.06 . AC=2;AF=1.00;AN=2;BaseQRankSum=3.170;DP=106;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=57.31;MQRankSum=-0.984;QD=31.04;ReadPosRankSum=-2.403;SOR=0.836 GT:AD:DP:GQ:PL 1/1:2,103:105:99:4401,249,0 -chr1 944307 . T C 4626.06 . AC=2;AF=1.00;AN=2;DP=107;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=57.33;QD=27.86;SOR=0.770 GT:AD:DP:GQ:PL 1/1:0,106:106:99:4640,319,0 -chr1 944858 . A G 166.14 . AC=2;AF=1.00;AN=2;DP=4;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=34.17;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,4:4:12:180,12,0 -chr1 945259 . TC T 52.60 . AC=1;AF=0.500;AN=2;BaseQRankSum=-1.645;DP=5;ExcessHet=0.0000;FS=3.979;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=10.52;ReadPosRankSum=-1.282;SOR=2.245 GT:AD:DP:GQ:PL 0/1:3,2:5:60:60,0,97 -chr1 945827 . A T 52.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=0.493;DP=10;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=5.26;ReadPosRankSum=-2.287;SOR=0.368 GT:AD:DP:GQ:PL 0/1:8,2:10:60:60,0,308 -chr1 946247 . G A 61.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=0.000;DP=6;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=49.02;MQRankSum=-0.967;QD=10.27;ReadPosRankSum=-1.834;SOR=0.693 GT:AD:DP:GQ:PL 0/1:4,2:6:69:69,0,146 -chr1 946538 . G A 44.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=0.000;DP=6;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=52.35;MQRankSum=-1.834;QD=7.44;ReadPosRankSum=-1.834;SOR=0.693 GT:AD:DP:GQ:PL 0/1:4,2:6:52:52,0,162 -chr1 947371 . T C 64.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=0.431;DP=6;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=10.77;ReadPosRankSum=-1.834;SOR=0.223 GT:AD:DP:GQ:PL 0/1:4,2:6:72:72,0,159 -chr1 947423 . A G 343.04 . AC=2;AF=1.00;AN=2;DP=9;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=28.60;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,8:8:24:357,24,0 -chr1 948711 . C G 210.96 . AC=2;AF=1.00;AN=2;DP=5;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=25.57;SOR=1.022 GT:AD:DP:GQ:PL 1/1:0,5:5:15:225,15,0 -chr1 949171 . GAGAA G 112.60 . AC=1;AF=0.500;AN=2;BaseQRankSum=-0.524;DP=7;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=22.52;ReadPosRankSum=-1.645;SOR=1.179 GT:AD:DP:GQ:PL 0/1:2,3:5:75:120,0,75 -chr1 949435 . A G 166.14 . AC=2;AF=1.00;AN=2;DP=4;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=33.11;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,4:4:12:180,12,0 -chr1 949628 . C A 51.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=-0.524;DP=6;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=8.61;ReadPosRankSum=0.524;SOR=0.693 GT:AD:DP:GQ:PL 0/1:4,2:6:59:59,0,155 -chr1 950319 . A G 78.32 . AC=2;AF=1.00;AN=2;DP=2;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=30.20;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 952421 . A G 121.84 . AC=2;AF=1.00;AN=2;DP=8;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=47.77;QD=30.49;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 -chr1 953259 . T C 196.97 . AC=2;AF=1.00;AN=2;DP=6;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=49.79;QD=32.83;SOR=1.329 GT:AD:DP:GQ:PL 1/1:0,6:6:18:211,18,0 -chr1 953279 . T C 186.96 . AC=2;AF=1.00;AN=2;DP=5;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=47.48;QD=31.67;SOR=1.981 GT:AD:DP:GQ:PL 1/1:0,5:5:15:201,15,0 -chr1 953778 . G C 78.32 . AC=2;AF=1.00;AN=2;DP=2;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=29.53;SOR=2.303 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 953779 . A C 78.32 . AC=2;AF=1.00;AN=2;DP=2;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=32.63;SOR=2.303 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 954258 . G C 463.06 . AC=2;AF=1.00;AN=2;DP=12;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=30.36;SOR=0.859 GT:AD:DP:GQ:PL 1/1:0,11:11:33:477,33,0 -chr1 954333 . C A 652.06 . AC=2;AF=1.00;AN=2;DP=17;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=28.13;SOR=0.941 GT:AD:DP:GQ:PL 1/1:0,16:16:48:666,48,0 -chr1 954574 . A G 166.14 . AC=2;AF=1.00;AN=2;DP=4;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=27.97;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,4:4:12:180,12,0 -chr1 954827 . GA G 52.80 . AC=2;AF=1.00;AN=2;DP=6;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=17.60;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,3:3:9:66,9,0 -chr1 955384 . C T 37.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=0.588;DP=17;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=2.51;ReadPosRankSum=1.960;SOR=0.569 GT:AD:DP:GQ:PL 0/1:13,2:15:45:45,0,537 -chr1 955641 . G A 266.02 . AC=2;AF=1.00;AN=2;DP=8;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=28.31;SOR=0.941 GT:AD:DP:GQ:PL 1/1:0,7:7:21:280,21,0 -chr1 955679 . C T 112.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=0.000;DP=5;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=22.53;ReadPosRankSum=1.645;SOR=1.179 GT:AD:DP:GQ:PL 0/1:2,3:5:75:120,0,75 -chr1 956565 . A G 154.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=0.967;DP=6;ExcessHet=0.0000;FS=3.310;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=25.77;ReadPosRankSum=0.000;SOR=0.105 GT:AD:DP:GQ:PL 0/1:2,4:6:62:162,0,62 -chr1 957365 . G A 501.06 . AC=2;AF=1.00;AN=2;DP=12;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=35.21;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,12:12:36:515,36,0 -chr1 957900 . G A 471.06 . AC=2;AF=1.00;AN=2;DP=13;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=35.18;SOR=0.859 GT:AD:DP:GQ:PL 1/1:0,11:11:33:485,33,0 -chr1 959193 . G A 121.84 . AC=2;AF=1.00;AN=2;DP=3;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=29.59;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 -chr1 960891 . C T 121.84 . AC=2;AF=1.00;AN=2;DP=3;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=32.25;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 -chr1 961096 . A G 274.02 . AC=2;AF=1.00;AN=2;DP=8;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=34.86;SOR=0.941 GT:AD:DP:GQ:PL 1/1:0,7:7:21:288,21,0 -chr1 961945 . G C 1100.06 . AC=2;AF=1.00;AN=2;DP=26;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=32.49;SOR=0.941 GT:AD:DP:GQ:PL 1/1:0,25:25:75:1114,75,0 -chr1 962001 . T A 37.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=-1.198;DP=14;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=2.69;ReadPosRankSum=1.923;SOR=0.446 GT:AD:DP:GQ:PL 0/1:12,2:14:45:45,0,490 -chr1 962184 . T C 335.04 . AC=2;AF=1.00;AN=2;DP=10;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=29.05;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,8:8:24:349,24,0 -chr1 962943 . T C 78.32 . AC=2;AF=1.00;AN=2;DP=2;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=31.88;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 964218 . C G 49.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=-0.842;DP=5;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=9.93;ReadPosRankSum=0.524;SOR=0.368 GT:AD:DP:GQ:PL 0/1:3,2:5:57:57,0,120 -chr1 965125 . G C 645.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=-0.623;DP=30;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=21.52;ReadPosRankSum=-0.168;SOR=0.665 GT:AD:DP:GQ:PL 0/1:13,17:30:99:653,0,478 -chr1 965337 . CTTAT C 598.60 . AC=1;AF=0.500;AN=2;BaseQRankSum=0.423;DP=24;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=26.03;ReadPosRankSum=0.876;SOR=0.818 GT:AD:DP:GQ:PL 0/1:8,15:23:99:606,0,270 -chr1 965350 . G A 965.06 . AC=2;AF=1.00;AN=2;DP=23;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=30.31;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,22:22:66:979,66,0 -chr1 965592 . T G 918.06 . AC=2;AF=1.00;AN=2;DP=24;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=29.84;SOR=0.784 GT:AD:DP:GQ:PL 1/1:0,21:21:63:932,63,0 -chr1 965643 . T C 918.06 . AC=2;AF=1.00;AN=2;DP=21;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=28.80;SOR=0.784 GT:AD:DP:GQ:PL 1/1:0,21:21:63:932,63,0 -chr1 965666 . ACC A 250.60 . AC=1;AF=0.500;AN=2;BaseQRankSum=0.266;DP=20;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=13.19;ReadPosRankSum=-1.229;SOR=0.941 GT:AD:DP:GQ:PL 0/1:12,7:19:99:258,0,482 -chr1 966179 . G A 75.32 . AC=2;AF=1.00;AN=2;DP=4;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=29.95;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:87,6,0 -chr1 966227 . C G 166.14 . AC=2;AF=1.00;AN=2;DP=4;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=30.22;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,4:4:12:180,12,0 -chr1 966272 . A G 166.14 . AC=2;AF=1.00;AN=2;DP=4;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=29.85;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,4:4:12:180,12,0 -chr1 966665 . T C 78.32 . AC=2;AF=1.00;AN=2;DP=2;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=31.18;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 966770 . C T 70.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=0.000;DP=4;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=17.66;ReadPosRankSum=1.383;SOR=0.693 GT:AD:DP:GQ:PL 0/1:2,2:4:78:78,0,78 -chr1 967376 . AC A 166.10 . AC=2;AF=1.00;AN=2;DP=4;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=28.65;SOR=1.609 GT:AD:DP:GQ:PL 1/1:0,4:4:12:180,12,0 -chr1 967384 . C G 166.14 . AC=2;AF=1.00;AN=2;DP=4;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=28.44;SOR=1.609 GT:AD:DP:GQ:PL 1/1:0,4:4:12:180,12,0 -chr1 968841 . T C 70.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=0.000;DP=4;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=17.66;ReadPosRankSum=1.383;SOR=0.693 GT:AD:DP:GQ:PL 0/1:2,2:4:78:78,0,78 -chr1 969377 . A ATG 193.92 . AC=2;AF=1.00;AN=2;DP=5;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=35.95;SOR=1.022 GT:AD:DP:GQ:PL 1/1:0,5:5:15:208,15,0 -chr1 969663 . CAT C 78.28 . AC=2;AF=1.00;AN=2;DP=2;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=33.53;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 970005 . G A 52.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=-0.674;DP=4;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=53.11;MQRankSum=0.674;QD=13.16;ReadPosRankSum=-1.383;SOR=0.105 GT:AD:DP:GQ:PL 0/1:2,2:4:60:60,0,60 -chr1 970874 . C G 62.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=-0.967;DP=3;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=20.88;ReadPosRankSum=-0.967;SOR=0.223 GT:AD:DP:GQ:PL 0/1:1,2:3:36:70,0,36 -chr1 971513 . G A 62.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=-0.967;DP=3;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=20.88;ReadPosRankSum=-0.967;SOR=0.223 GT:AD:DP:GQ:PL 0/1:1,2:3:36:70,0,36 -chr1 973929 . T C 70.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=0.000;DP=4;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=17.66;ReadPosRankSum=0.000;SOR=0.693 GT:AD:DP:GQ:PL 0/1:2,2:4:78:78,0,78 -chr1 974388 . A G 75.32 . AC=2;AF=1.00;AN=2;DP=2;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=36.33;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:87,6,0 -chr1 975447 . T C 65.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=-0.480;DP=9;ExcessHet=0.0000;FS=2.808;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=7.29;ReadPosRankSum=2.100;SOR=0.959 GT:AD:DP:GQ:PL 0/1:6,3:9:73:73,0,232 -chr1 975492 . GCT G 55.60 . AC=1;AF=0.500;AN=2;BaseQRankSum=-0.469;DP=9;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=6.18;ReadPosRankSum=-0.282;SOR=0.495 GT:AD:DP:GQ:PL 0/1:7,2:9:63:63,0,288 -chr1 975523 . T C 184.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=1.097;DP=11;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=16.79;ReadPosRankSum=-1.647;SOR=1.022 GT:AD:DP:GQ:PL 0/1:6,5:11:99:192,0,225 -chr1 976215 . A G 205.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=0.950;DP=20;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=11.42;ReadPosRankSum=0.047;SOR=0.446 GT:AD:DP:GQ:PL 0/1:12,6:18:99:213,0,451 -chr1 997238 . C G 75.32 . AC=2;AF=1.00;AN=2;DP=2;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=32.31;SOR=2.303 GT:AD:DP:GQ:PL 1/1:0,2:2:6:87,6,0 -chr1 997987 . G A 57.32 . AC=2;AF=1.00;AN=2;DP=2;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=28.66;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:69,6,0 -chr1 998935 . CA C 48.60 . AC=1;AF=0.500;AN=2;BaseQRankSum=0.000;DP=6;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=9.72;ReadPosRankSum=1.645;SOR=0.368 GT:AD:DP:GQ:PL 0/1:3,2:5:56:56,0,92 -chr1 999005 . G A 1722.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=-1.144;DP=108;ExcessHet=0.0000;FS=2.549;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=16.10;ReadPosRankSum=2.266;SOR=0.991 GT:AD:DP:GQ:PL 0/1:61,46:107:99:1730,0,2390 -chr1 999842 . C A 1435.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=0.635;DP=52;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=30.55;ReadPosRankSum=-0.162;SOR=0.614 GT:AD:DP:GQ:PL 0/1:9,38:47:99:1443,0,191 -chr1 1000079 . A G 3879.06 . AC=2;AF=1.00;AN=2;DP=90;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=34.29;SOR=0.887 GT:AD:DP:GQ:PL 1/1:0,88:88:99:3893,265,0 -chr1 1000112 . G T 740.06 . AC=2;AF=1.00;AN=2;DP=29;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=30.05;SOR=0.914 GT:AD:DP:GQ:PL 1/1:0,18:18:54:754,54,0 -chr1 1000335 . C T 501.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=-1.859;DP=29;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=17.92;ReadPosRankSum=-1.474;SOR=0.976 GT:AD:DP:GQ:PL 0/1:14,14:28:99:509,0,542 -chr1 1000453 . C G 1393.06 . AC=2;AF=1.00;AN=2;BaseQRankSum=3.360;DP=37;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;MQRankSum=0.000;QD=33.30;ReadPosRankSum=-2.311;SOR=1.022 GT:AD:DP:GQ:PL 1/1:2,33:35:54:1407,54,0 -chr1 1000731 . C T 957.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=-1.267;DP=51;ExcessHet=0.0000;FS=1.082;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=18.78;ReadPosRankSum=0.217;SOR=0.481 GT:AD:DP:GQ:PL 0/1:24,27:51:99:965,0,913 -chr1 1000814 . A G 1479.06 . AC=2;AF=1.00;AN=2;DP=34;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=31.74;SOR=1.085 GT:AD:DP:GQ:PL 1/1:0,34:34:99:1493,102,0 -chr1 1000830 . C A 668.06 . AC=2;AF=1.00;AN=2;DP=18;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=28.66;SOR=0.941 GT:AD:DP:GQ:PL 1/1:0,16:16:48:682,48,0 -chr1 1001107 . C G 78.32 . AC=2;AF=1.00;AN=2;DP=2;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=25.41;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 1002308 . T C 78.32 . AC=2;AF=1.00;AN=2;DP=2;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=28.50;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 1009083 . A G 70.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=0.000;DP=4;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=17.66;ReadPosRankSum=-1.383;SOR=0.693 GT:AD:DP:GQ:PL 0/1:2,2:4:78:78,0,78 -chr1 1012158 . C T 189.96 . AC=2;AF=1.00;AN=2;DP=5;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=35.19;SOR=1.022 GT:AD:DP:GQ:PL 1/1:0,5:5:15:204,15,0 -chr1 1012809 . T C 78.32 . AC=2;AF=1.00;AN=2;DP=2;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=30.73;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 1012810 . T C 78.32 . AC=2;AF=1.00;AN=2;DP=2;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=26.72;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 1013312 . G A 118.84 . AC=2;AF=1.00;AN=2;DP=4;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=24.84;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,3:3:9:132,9,0 -chr1 1013466 . T TA 166.10 . AC=2;AF=1.00;AN=2;DP=4;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=25.31;SOR=1.609 GT:AD:DP:GQ:PL 1/1:0,4:4:12:180,12,0 -chr1 1013490 . C G 174.96 . AC=2;AF=1.00;AN=2;DP=5;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=34.99;SOR=1.022 GT:AD:DP:GQ:PL 1/1:0,5:5:15:189,15,0 -chr1 1013541 . T C 2147.06 . AC=2;AF=1.00;AN=2;DP=53;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=32.86;SOR=4.493 GT:AD:DP:GQ:PL 1/1:0,50:50:99:2161,150,0 -chr1 1013855 . G A 376.05 . AC=2;AF=1.00;AN=2;DP=11;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=27.73;SOR=0.892 GT:AD:DP:GQ:PL 1/1:0,9:9:27:390,27,0 -chr1 1014228 . G A 2184.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=-2.064;DP=366;ExcessHet=0.0000;FS=1.003;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=6.33;ReadPosRankSum=0.404;SOR=0.762 GT:AD:DP:GQ:PL 0/1:271,74:345:99:2192,0,10936 -chr1 1014274 . A G 13015.06 . AC=2;AF=1.00;AN=2;DP=303;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=29.05;SOR=0.727 GT:AD:DP:GQ:PL 1/1:0,295:295:99:13029,887,0 -chr1 1014545 . C T 155.14 . AC=2;AF=1.00;AN=2;DP=4;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=27.64;SOR=1.609 GT:AD:DP:GQ:PL 1/1:0,4:4:12:169,12,0 -chr1 1019636 . A G 78.32 . AC=2;AF=1.00;AN=2;DP=2;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=29.35;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 1019833 . T C 78.32 . AC=2;AF=1.00;AN=2;DP=2;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=29.21;SOR=2.303 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 1020217 . G T 1545.06 . AC=2;AF=1.00;AN=2;DP=36;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=31.06;SOR=0.804 GT:AD:DP:GQ:PL 1/1:0,36:36:99:1559,108,0 -chr1 1021740 . G C 255.97 . AC=2;AF=1.00;AN=2;DP=6;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=27.08;SOR=1.329 GT:AD:DP:GQ:PL 1/1:0,6:6:18:270,18,0 -chr1 1026830 . A G 75.32 . AC=2;AF=1.00;AN=2;DP=2;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=24.80;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:87,6,0 -chr1 1031917 . C A 78.32 . AC=2;AF=1.00;AN=2;DP=2;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=26.10;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 1035987 . T C 118.84 . AC=2;AF=1.00;AN=2;DP=3;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=29.15;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,3:3:9:132,9,0 -chr1 1036754 . C T 75.32 . AC=2;AF=1.00;AN=2;DP=3;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=31.87;SOR=2.303 GT:AD:DP:GQ:PL 1/1:0,2:2:6:87,6,0 -chr1 1037505 . A G 55.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=0.549;DP=9;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=6.18;ReadPosRankSum=-0.282;SOR=0.223 GT:AD:DP:GQ:PL 0/1:7,2:9:63:63,0,266 -chr1 1037956 . A G 247.97 . AC=2;AF=1.00;AN=2;DP=6;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=30.57;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,6:6:18:262,18,0 -chr1 1037997 . G A 301.02 . AC=2;AF=1.00;AN=2;DP=7;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=29.34;SOR=0.941 GT:AD:DP:GQ:PL 1/1:0,7:7:21:315,21,0 -chr1 1038078 . C T 210.96 . AC=2;AF=1.00;AN=2;DP=5;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=22.58;SOR=1.022 GT:AD:DP:GQ:PL 1/1:0,5:5:15:225,15,0 -chr1 1038288 . A G 189.96 . AC=2;AF=1.00;AN=2;DP=5;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=34.42;SOR=1.981 GT:AD:DP:GQ:PL 1/1:0,5:5:15:204,15,0 -chr1 1038762 . T C 41.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=-1.139;DP=11;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=3.79;ReadPosRankSum=2.362;SOR=0.527 GT:AD:DP:GQ:PL 0/1:9,2:11:49:49,0,365 -chr1 1038800 . G T 328.04 . AC=2;AF=1.00;AN=2;DP=9;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=28.87;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,8:8:24:342,24,0 -chr1 1038819 . C T 326.04 . AC=2;AF=1.00;AN=2;DP=8;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=29.49;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,8:8:24:340,24,0 -chr1 1038845 . A G 255.97 . AC=2;AF=1.00;AN=2;DP=6;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=28.64;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,6:6:18:270,18,0 -chr1 1038916 . A G 78.32 . AC=2;AF=1.00;AN=2;DP=2;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=31.89;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 1039114 . G T 210.96 . AC=2;AF=1.00;AN=2;DP=5;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=39.16;SOR=1.022 GT:AD:DP:GQ:PL 1/1:0,5:5:15:225,15,0 -chr1 1039411 . T TG,TGG 231.02 . AC=1,1;AF=0.500,0.500;AN=2;DP=8;ExcessHet=0.0000;FS=0.000;MLEAC=1,1;MLEAF=0.500,0.500;MQ=60.00;QD=28.88;SOR=0.693 GT:AD:DP:GQ:PL 1/2:0,4,4:8:90:248,113,90,103,0,91 -chr1 1039514 . C T 78.32 . AC=2;AF=1.00;AN=2;DP=2;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=27.54;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 1039753 . T A 75.32 . AC=2;AF=1.00;AN=2;DP=2;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=30.82;SOR=2.303 GT:AD:DP:GQ:PL 1/1:0,2:2:6:87,6,0 -chr1 1040322 . A G 78.32 . AC=2;AF=1.00;AN=2;DP=2;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=31.57;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 1041492 . G A 526.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=-0.900;DP=18;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=29.26;ReadPosRankSum=-1.968;SOR=0.693 GT:AD:DP:GQ:PL 0/1:4,14:18:99:534,0,126 -chr1 1041950 . T C 72.32 . AC=2;AF=1.00;AN=2;DP=2;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=28.62;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 -chr1 1042190 . G A 78.32 . AC=2;AF=1.00;AN=2;DP=2;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=26.65;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 1042767 . AG A 58.60 . AC=1;AF=0.500;AN=2;BaseQRankSum=1.559;DP=9;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=6.51;ReadPosRankSum=-1.510;SOR=0.593 GT:AD:DP:GQ:PL 0/1:6,3:9:66:66,0,160 -chr1 1043295 . G A 31.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=0.784;DP=17;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=1.86;ReadPosRankSum=0.821;SOR=0.582 GT:AD:DP:GQ:PL 0/1:15,2:17:39:39,0,577 -chr1 1044368 . A T 34.32 . AC=2;AF=1.00;AN=2;DP=2;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=17.16;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:46,6,0 -chr1 1045707 . A G 78.32 . AC=2;AF=1.00;AN=2;DP=2;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=31.15;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 1046551 . A G 276.02 . AC=2;AF=1.00;AN=2;DP=12;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=29.71;SOR=0.941 GT:AD:DP:GQ:PL 1/1:0,7:7:21:290,21,0 -chr1 1047064 . A G 446.06 . AC=2;AF=1.00;AN=2;DP=11;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=31.24;SOR=0.859 GT:AD:DP:GQ:PL 1/1:0,11:11:33:460,33,0 -chr1 1047082 . T C 220.97 . AC=2;AF=1.00;AN=2;DP=10;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=26.78;SOR=1.329 GT:AD:DP:GQ:PL 1/1:0,6:6:18:235,18,0 -chr1 1047133 . T C 163.14 . AC=2;AF=1.00;AN=2;DP=4;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=27.89;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,4:4:12:177,12,0 -chr1 1047233 . T C 58.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=0.319;DP=8;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=7.33;ReadPosRankSum=-1.242;SOR=0.693 GT:AD:DP:GQ:PL 0/1:6,2:8:66:66,0,233 -chr1 1047614 . T C 78.32 . AC=2;AF=1.00;AN=2;DP=2;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=32.85;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 1048912 . C T 34.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=0.690;DP=16;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=2.16;ReadPosRankSum=1.037;SOR=0.693 GT:AD:DP:GQ:PL 0/1:14,2:16:42:42,0,570 -chr1 1052857 . ATG A 71.28 . AC=2;AF=1.00;AN=2;DP=2;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=35.74;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:83,6,0 -chr1 1054866 . C G 43.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=-2.012;DP=12;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=3.64;ReadPosRankSum=0.974;SOR=0.412 GT:AD:DP:GQ:PL 0/1:10,2:12:51:51,0,414 -chr1 1055000 . C T 1365.06 . AC=2;AF=1.00;AN=2;DP=33;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=28.18;SOR=0.756 GT:AD:DP:GQ:PL 1/1:0,31:31:93:1379,93,0 -chr1 1055037 . T C 1111.06 . AC=2;AF=1.00;AN=2;DP=30;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=27.65;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,26:26:78:1125,78,0 -chr1 1055137 . C T 1337.06 . AC=2;AF=1.00;AN=2;DP=34;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=33.04;SOR=1.022 GT:AD:DP:GQ:PL 1/1:0,33:33:98:1351,98,0 -chr1 1055393 . C T 1208.06 . AC=2;AF=1.00;AN=2;DP=31;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=30.07;SOR=0.976 GT:AD:DP:GQ:PL 1/1:0,30:30:89:1222,89,0 -chr1 1055426 . G A 1002.06 . AC=2;AF=1.00;AN=2;DP=28;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=32.19;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,24:24:72:1016,72,0 -chr1 1055604 . G A 2574.06 . AC=2;AF=1.00;AN=2;DP=65;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=29.72;SOR=0.793 GT:AD:DP:GQ:PL 1/1:0,61:61:99:2588,183,0 -chr1 1063121 . G C 109.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=-0.524;DP=5;ExcessHet=0.0000;FS=3.979;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=21.93;ReadPosRankSum=-0.524;SOR=2.833 GT:AD:DP:GQ:PL 0/1:2,3:5:75:117,0,75 -chr1 1066726 . G A 40.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=-0.242;DP=13;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=3.13;ReadPosRankSum=1.089;SOR=0.551 GT:AD:DP:GQ:PL 0/1:11,2:13:48:48,0,436 -chr1 1067007 . A G 46.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=-0.853;DP=36;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=1.33;ReadPosRankSum=-2.414;SOR=0.634 GT:AD:DP:GQ:PL 0/1:31,4:35:54:54,0,1179 -chr1 1067159 . G A 55.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=0.985;DP=25;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=2.32;ReadPosRankSum=-0.044;SOR=1.061 GT:AD:DP:GQ:PL 0/1:21,3:24:63:63,0,842 -chr1 1068165 . G T 55.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=0.549;DP=9;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=6.18;ReadPosRankSum=-1.383;SOR=0.495 GT:AD:DP:GQ:PL 0/1:7,2:9:63:63,0,266 -chr1 1068249 . C T 115.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=-0.411;DP=18;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=6.42;ReadPosRankSum=-0.160;SOR=0.693 GT:AD:DP:GQ:PL 0/1:14,4:18:99:123,0,569 -chr1 1068664 . T C 99.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=0.668;DP=68;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=56.15;MQRankSum=-0.681;QD=1.47;ReadPosRankSum=-0.242;SOR=0.631 GT:AD:DP:GQ:PL 0/1:61,7:68:99:107,0,2392 -chr1 1068727 . T C 61.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=0.802;DP=25;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=59.65;MQRankSum=-4.502;QD=2.80;ReadPosRankSum=-0.672;SOR=0.199 GT:AD:DP:GQ:PL 0/1:19,3:22:69:69,0,771 -chr1 1068951 . C T 474.06 . AC=2;AF=1.00;AN=2;DP=12;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=32.70;SOR=1.022 GT:AD:DP:GQ:PL 1/1:0,12:12:36:488,36,0 -chr1 1071610 . G A 710.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=-0.829;DP=39;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=18.70;ReadPosRankSum=2.543;SOR=0.711 GT:AD:DP:GQ:PL 0/1:19,19:38:99:718,0,729 -chr1 1071750 . GC G 42.60 . AC=1;AF=0.500;AN=2;BaseQRankSum=-0.086;DP=15;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=2.84;ReadPosRankSum=1.230;SOR=0.527 GT:AD:DP:GQ:PL 0/1:12,3:15:50:50,0,357 -chr1 1071823 . A G 145.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=0.847;DP=9;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=16.18;ReadPosRankSum=-1.180;SOR=0.446 GT:AD:DP:GQ:PL 0/1:5,4:9:99:153,0,190 -chr1 1071842 . G T 67.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=0.524;DP=5;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=13.53;ReadPosRankSum=-1.036;SOR=0.368 GT:AD:DP:GQ:PL 0/1:3,2:5:75:75,0,120 -chr1 1071872 . C CG 49.28 . AC=2;AF=1.00;AN=2;DP=3;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=24.64;SOR=2.303 GT:AD:DP:GQ:PL 1/1:0,2:2:6:61,6,0 -chr1 1072067 . G T 37.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=0.850;DP=16;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=2.51;ReadPosRankSum=-1.106;SOR=0.569 GT:AD:DP:GQ:PL 0/1:13,2:15:45:45,0,515 -chr1 1074098 . G C 190.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=0.703;DP=11;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=23.83;ReadPosRankSum=-2.369;SOR=0.799 GT:AD:DP:GQ:PL 0/1:3,5:8:99:198,0,103 -chr1 1080437 . G A 75.32 . AC=2;AF=1.00;AN=2;DP=3;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=30.01;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:87,6,0 -chr1 1081961 . G T 326.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=-1.755;DP=22;ExcessHet=0.0000;FS=3.821;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=14.85;ReadPosRankSum=-0.132;SOR=1.609 GT:AD:DP:GQ:PL 0/1:12,10:22:99:334,0,458 -chr1 1082207 . C T 280.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=1.335;DP=26;ExcessHet=0.0000;FS=1.718;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=11.69;ReadPosRankSum=-2.362;SOR=0.340 GT:AD:DP:GQ:PL 0/1:16,8:24:99:288,0,623 -chr1 1085966 . A G 148.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=0.674;DP=8;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=18.58;ReadPosRankSum=-1.133;SOR=0.693 GT:AD:DP:GQ:PL 0/1:4,4:8:99:156,0,138 -chr1 1090943 . T C 67.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=1.645;DP=6;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=13.53;ReadPosRankSum=0.524;SOR=0.368 GT:AD:DP:GQ:PL 0/1:3,2:5:75:75,0,80 -chr1 1091421 . T A 78.32 . AC=2;AF=1.00;AN=2;DP=2;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=31.66;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 1094198 . C T 197.96 . AC=2;AF=1.00;AN=2;DP=5;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=30.68;SOR=1.022 GT:AD:DP:GQ:PL 1/1:0,5:5:15:212,15,0 -chr1 1095185 . C T 52.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=0.589;DP=9;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=5.85;ReadPosRankSum=-1.593;SOR=0.495 GT:AD:DP:GQ:PL 0/1:7,2:9:60:60,0,245 -chr1 1095242 . C CA 42.60 . AC=1;AF=0.500;AN=2;BaseQRankSum=0.674;DP=5;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=10.65;ReadPosRankSum=0.000;SOR=2.303 GT:AD:DP:GQ:PL 0/1:2,2:4:50:50,0,50 -chr1 1096160 . A G 252.97 . AC=2;AF=1.00;AN=2;DP=6;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=28.24;SOR=1.329 GT:AD:DP:GQ:PL 1/1:0,6:6:18:267,18,0 -chr1 1096593 . C T 70.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=0.000;DP=4;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=17.66;ReadPosRankSum=-0.674;SOR=0.693 GT:AD:DP:GQ:PL 0/1:2,2:4:78:78,0,78 -chr1 1096804 . A G 78.32 . AC=2;AF=1.00;AN=2;DP=2;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=30.72;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 1097893 . C CT 50.28 . AC=2;AF=1.00;AN=2;DP=2;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=25.14;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:62,6,0 -chr1 1098619 . C T 75.32 . AC=2;AF=1.00;AN=2;DP=2;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=31.01;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:87,6,0 -chr1 1112230 . C T 70.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=0.000;DP=4;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=17.66;ReadPosRankSum=-1.383;SOR=0.693 GT:AD:DP:GQ:PL 0/1:2,2:4:78:78,0,78 -chr1 1112351 . A G 121.84 . AC=2;AF=1.00;AN=2;DP=3;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=30.69;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 -chr1 1112385 . G A 78.32 . AC=2;AF=1.00;AN=2;DP=2;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=29.78;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 1112865 . T C 61.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=0.366;DP=8;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=8.81;ReadPosRankSum=-0.566;SOR=0.446 GT:AD:DP:GQ:PL 0/1:5,2:7:69:69,0,191 -chr1 1112892 . T C 46.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=-0.566;DP=12;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=3.89;ReadPosRankSum=-0.865;SOR=0.693 GT:AD:DP:GQ:PL 0/1:10,2:12:54:54,0,414 -chr1 1112897 . T C 46.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=-0.775;DP=12;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=3.89;ReadPosRankSum=-0.865;SOR=0.693 GT:AD:DP:GQ:PL 0/1:10,2:12:54:54,0,414 -chr1 1112951 . T C 226.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=0.389;DP=12;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=18.89;ReadPosRankSum=1.506;SOR=0.693 GT:AD:DP:GQ:PL 0/1:6,6:12:99:234,0,234 -chr1 1112952 . T C 226.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=1.616;DP=12;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=18.89;ReadPosRankSum=1.506;SOR=0.693 GT:AD:DP:GQ:PL 0/1:6,6:12:99:234,0,234 -chr1 1113318 . T C 299.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=1.712;DP=19;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=16.65;ReadPosRankSum=-0.534;SOR=0.412 GT:AD:DP:GQ:PL 0/1:10,8:18:99:307,0,323 -chr1 1113490 . T C 61.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=0.000;DP=7;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=8.81;ReadPosRankSum=0.712;SOR=0.446 GT:AD:DP:GQ:PL 0/1:5,2:7:69:69,0,204 -chr1 1113525 . T C 58.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=0.319;DP=8;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=7.33;ReadPosRankSum=2.100;SOR=0.307 GT:AD:DP:GQ:PL 0/1:6,2:8:66:66,0,243 -chr1 1114590 . T C 43.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=0.360;DP=12;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=3.64;ReadPosRankSum=-1.188;SOR=0.693 GT:AD:DP:GQ:PL 0/1:10,2:12:51:51,0,344 -chr1 1114927 . CG C 59.28 . AC=2;AF=1.00;AN=2;DP=3;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=29.64;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:71,6,0 -chr1 1130087 . T A 65.32 . AC=2;AF=1.00;AN=2;DP=2;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=32.66;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:77,6,0 -chr1 1153882 . A G 78.32 . AC=2;AF=1.00;AN=2;DP=2;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=30.54;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 1158233 . G A 34.32 . AC=2;AF=1.00;AN=2;DP=2;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=17.16;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:46,6,0 -chr1 1158404 . G A 57.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=-0.431;DP=4;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=14.41;ReadPosRankSum=-1.383;SOR=0.693 GT:AD:DP:GQ:PL 0/1:2,2:4:65:65,0,70 -chr1 1160239 . C G 155.14 . AC=2;AF=1.00;AN=2;DP=4;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=23.15;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,4:4:12:169,12,0 -chr1 1160818 . C T 70.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=0.000;DP=4;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=17.66;ReadPosRankSum=0.000;SOR=0.693 GT:AD:DP:GQ:PL 0/1:2,2:4:78:78,0,78 -chr1 1161720 . C T 86.84 . AC=2;AF=1.00;AN=2;DP=3;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=28.95;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,3:3:9:100,9,0 -chr1 1161907 . T C 121.84 . AC=2;AF=1.00;AN=2;DP=3;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=31.70;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 -chr1 1162886 . C T 349.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=-0.660;DP=11;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=31.79;ReadPosRankSum=-1.097;SOR=0.892 GT:AD:DP:GQ:PL 0/1:2,9:11:57:357,0,57 -chr1 1163041 . C T 1692.06 . AC=2;AF=1.00;AN=2;DP=44;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=32.17;SOR=0.741 GT:AD:DP:GQ:PL 1/1:0,41:41:99:1706,123,0 -chr1 1163178 . C T 49.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=-0.842;DP=11;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=4.96;ReadPosRankSum=0.728;SOR=0.693 GT:AD:DP:GQ:PL 0/1:8,2:10:57:57,0,327 -chr1 1163440 . TCC T,TC 214.02 . AC=1,1;AF=0.500,0.500;AN=2;DP=8;ExcessHet=0.0000;FS=0.000;MLEAC=1,1;MLEAF=0.500,0.500;MQ=60.00;QD=30.57;SOR=0.941 GT:AD:DP:GQ:PL 1/2:0,4,3:7:70:231,82,70,121,0,101 -chr1 1163962 . A C 639.06 . AC=2;AF=1.00;AN=2;DP=21;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=35.86;SOR=0.941 GT:AD:DP:GQ:PL 1/1:0,16:16:48:653,48,0 -chr1 1164837 . C T 857.06 . AC=2;AF=1.00;AN=2;DP=22;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=34.53;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,20:20:60:871,60,0 -chr1 1164939 . C A 312.68 . AC=1;AF=0.500;AN=2;BaseQRankSum=0.967;DP=10;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=34.74;ReadPosRankSum=-1.593;SOR=0.223 GT:AD:DP:GQ:PL 0/1:1,8:9:10:320,0,10 -chr1 1165623 . C T 911.06 . AC=2;AF=1.00;AN=2;DP=21;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=33.68;SOR=0.784 GT:AD:DP:GQ:PL 1/1:0,21:21:63:925,63,0 -chr1 1165943 . G A 249.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=-1.658;DP=17;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=14.68;ReadPosRankSum=0.147;SOR=0.941 GT:AD:DP:GQ:PL 0/1:10,7:17:99:257,0,399 -chr1 1166689 . A G 478.06 . AC=2;AF=1.00;AN=2;DP=11;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=32.25;SOR=0.859 GT:AD:DP:GQ:PL 1/1:0,11:11:33:492,33,0 -chr1 1167682 . C T 39.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=-1.221;DP=10;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=3.96;ReadPosRankSum=-1.501;SOR=0.693 GT:AD:DP:GQ:PL 0/1:8,2:10:47:47,0,319 -chr1 1167762 . C G 52.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=0.728;DP=10;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=5.26;ReadPosRankSum=-2.287;SOR=0.693 GT:AD:DP:GQ:PL 0/1:8,2:10:60:60,0,305 -chr1 1168162 . T C 75.32 . AC=2;AF=1.00;AN=2;DP=3;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=28.47;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:87,6,0 -chr1 1168310 . T TCA 335.92 . AC=2;AF=1.00;AN=2;BaseQRankSum=1.593;DP=10;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;MQRankSum=0.000;QD=26.77;ReadPosRankSum=-1.593;SOR=0.446 GT:AD:DP:GQ:PL 1/1:1,8:9:17:350,17,0 -chr1 1168578 . T G 556.06 . AC=2;AF=1.00;AN=2;DP=13;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=29.61;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,13:13:39:570,39,0 -chr1 1168643 . C T 55.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=0.282;DP=11;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=6.18;ReadPosRankSum=0.282;SOR=0.223 GT:AD:DP:GQ:PL 0/1:7,2:9:63:63,0,270 -chr1 1169204 . T C 78.32 . AC=2;AF=1.00;AN=2;DP=2;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=30.95;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr1 1169591 . C A 174.66 . AC=1;AF=0.500;AN=2;BaseQRankSum=0.967;DP=6;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=29.11;ReadPosRankSum=1.383;SOR=0.707 GT:AD:DP:GQ:PL 0/1:1,5:6:14:182,0,14 -chr1 1169858 . T C 121.84 . AC=2;AF=1.00;AN=2;DP=3;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=28.43;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 -chr1 1221034 . C T 58.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=0.319;DP=8;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=7.33;ReadPosRankSum=0.854;SOR=0.307 GT:AD:DP:GQ:PL 0/1:6,2:8:66:66,0,233 -chr1 1221498 . T C 151.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=-0.431;DP=6;ExcessHet=0.0000;FS=3.310;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=25.27;ReadPosRankSum=-0.431;SOR=0.105 GT:AD:DP:GQ:PL 0/1:2,4:6:72:159,0,72 -chr1 1223251 . A G 522.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=0.834;DP=26;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=32.66;ReadPosRankSum=-2.153;SOR=0.976 GT:AD:DP:GQ:PL 0/1:2,14:16:34:530,0,34 -chr1 1224137 . T C 107.84 . AC=2;AF=1.00;AN=2;DP=3;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=35.49;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,3:3:9:121,9,0 -chr1 1226946 . A G 166.14 . AC=2;AF=1.00;AN=2;DP=4;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=29.71;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,4:4:12:180,12,0 -chr1 1232278 . C T 37.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=-0.764;DP=14;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=2.69;ReadPosRankSum=-1.391;SOR=0.693 GT:AD:DP:GQ:PL 0/1:12,2:14:45:45,0,486 diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/htcaller/s001_variants.1rd/chr1.vcf.gz b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/htcaller/s001_variants.1rd/chr1.vcf.gz deleted file mode 100644 index 004eee6..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/htcaller/s001_variants.1rd/chr1.vcf.gz and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/htcaller/s001_variants.1rd/chr1.vcf.gz.tbi b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/htcaller/s001_variants.1rd/chr1.vcf.gz.tbi deleted file mode 100644 index 11ab2e3..0000000 Binary files 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b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/htcaller/s001_variants.1rd/chr2.vcf deleted file mode 100644 index 19ba405..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/htcaller/s001_variants.1rd/chr2.vcf +++ /dev/null @@ -1,106 +0,0 @@ -##fileformat=VCFv4.2 -##FILTER= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##GATKCommandLine= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##source=HaplotypeCaller -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT unknown -chr2 130229486 . G A 346.04 . AC=2;AF=1.00;AN=2;DP=8;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=27.19;QD=25.36;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,8:8:24:360,24,0 -chr2 130229492 . G A 419.06 . AC=2;AF=1.00;AN=2;DP=12;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=25.03;QD=28.73;SOR=1.270 GT:AD:DP:GQ:PL 1/1:0,11:11:33:433,33,0 -chr2 130229520 . G A 455.06 . AC=2;AF=1.00;AN=2;DP=17;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=24.31;QD=26.77;SOR=1.371 GT:AD:DP:GQ:PL 1/1:0,17:17:51:469,51,0 -chr2 130229579 . T C 581.06 . AC=2;AF=1.00;AN=2;DP=25;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=23.21;QD=25.26;SOR=0.963 GT:AD:DP:GQ:PL 1/1:0,23:23:69:595,69,0 -chr2 130229607 . G C 211.05 . AC=2;AF=1.00;AN=2;DP=18;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=21.13;QD=23.45;SOR=2.093 GT:AD:DP:GQ:PL 1/1:0,9:9:27:225,27,0 -chr2 130229647 . A T 328.05 . AC=2;AF=1.00;AN=2;DP=10;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=45.56;QD=30.97;SOR=0.892 GT:AD:DP:GQ:PL 1/1:0,9:9:27:342,27,0 -chr2 130229689 . A G 532.06 . AC=2;AF=1.00;AN=2;DP=13;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=46.97;QD=27.24;SOR=0.836 GT:AD:DP:GQ:PL 1/1:0,13:13:39:546,39,0 -chr2 130229709 . T G 529.06 . AC=2;AF=1.00;AN=2;DP=13;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=46.97;QD=28.20;SOR=0.836 GT:AD:DP:GQ:PL 1/1:0,13:13:39:543,39,0 -chr2 130229735 . T G 550.06 . AC=2;AF=1.00;AN=2;DP=13;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=46.97;QD=25.00;SOR=0.836 GT:AD:DP:GQ:PL 1/1:0,13:13:39:564,39,0 -chr2 130229747 . A G 706.06 . AC=2;AF=1.00;AN=2;DP=16;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=44.00;QD=29.56;SOR=0.941 GT:AD:DP:GQ:PL 1/1:0,16:16:48:720,48,0 -chr2 130229753 . G A 782.06 . AC=2;AF=1.00;AN=2;DP=18;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=45.51;QD=30.62;SOR=0.914 GT:AD:DP:GQ:PL 1/1:0,18:18:54:796,54,0 -chr2 130229756 . G A 782.06 . AC=2;AF=1.00;AN=2;DP=18;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=45.51;QD=28.17;SOR=0.914 GT:AD:DP:GQ:PL 1/1:0,18:18:54:796,54,0 -chr2 130229803 . G C 637.06 . AC=2;AF=1.00;AN=2;DP=18;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=44.68;QD=26.80;SOR=0.941 GT:AD:DP:GQ:PL 1/1:0,16:16:48:651,48,0 -chr2 130229817 . C G 860.06 . AC=2;AF=1.00;AN=2;DP=22;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=44.59;QD=26.00;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,22:22:66:874,66,0 -chr2 130229920 . A G 935.06 . AC=2;AF=1.00;AN=2;DP=28;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=41.53;QD=30.02;SOR=0.859 GT:AD:DP:GQ:PL 1/1:0,24:24:72:949,72,0 -chr2 130229974 . T C 78.32 . AC=2;AF=1.00;AN=2;DP=5;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=35.32;QD=31.98;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr2 130229975 . G A 78.32 . AC=2;AF=1.00;AN=2;DP=5;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=35.32;QD=27.51;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr2 130230633 . T C 311.04 . AC=2;AF=1.00;AN=2;DP=8;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=29.11;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,8:8:24:325,24,0 -chr2 130230668 . T C 583.06 . AC=2;AF=1.00;AN=2;DP=15;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=49.87;QD=28.08;SOR=0.818 GT:AD:DP:GQ:PL 1/1:0,15:15:45:597,45,0 -chr2 130230679 . G A 517.06 . AC=2;AF=1.00;AN=2;DP=15;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=49.87;QD=34.47;SOR=0.818 GT:AD:DP:GQ:PL 1/1:0,15:15:44:531,44,0 -chr2 130230727 . A G 583.06 . AC=2;AF=1.00;AN=2;DP=15;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=49.87;QD=23.23;SOR=0.818 GT:AD:DP:GQ:PL 1/1:0,15:15:45:597,45,0 -chr2 130230790 . A G 81.84 . AC=2;AF=1.00;AN=2;DP=7;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=34.87;QD=27.28;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,3:3:9:95,9,0 -chr2 130230924 . A G 39.32 . AC=2;AF=1.00;AN=2;DP=2;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=21.00;QD=19.66;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:51,6,0 -chr2 130231008 . C T 39.32 . AC=2;AF=1.00;AN=2;DP=2;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=21.00;QD=19.66;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:51,6,0 -chr2 130231176 . C G 282.04 . AC=2;AF=1.00;AN=2;DP=10;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=35.14;QD=29.03;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,8:8:24:296,24,0 -chr2 130231189 . T G 462.06 . AC=2;AF=1.00;AN=2;DP=13;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=38.54;QD=30.67;SOR=1.022 GT:AD:DP:GQ:PL 1/1:0,12:12:36:476,36,0 -chr2 130231202 . C A 613.06 . AC=2;AF=1.00;AN=2;DP=16;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=38.50;QD=26.61;SOR=1.244 GT:AD:DP:GQ:PL 1/1:0,16:16:48:627,48,0 -chr2 130231206 . C T 47.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=-1.093;DP=16;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=38.50;MQRankSum=-1.499;QD=2.98;ReadPosRankSum=1.148;SOR=0.693 GT:AD:DP:GQ:PL 0/1:13,3:16:55:55,0,449 -chr2 130231240 . A G 603.06 . AC=2;AF=1.00;AN=2;DP=16;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=38.50;QD=29.20;SOR=1.244 GT:AD:DP:GQ:PL 1/1:0,16:16:48:617,48,0 -chr2 130231320 . G A 125.14 . AC=2;AF=1.00;AN=2;DP=7;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=42.12;QD=31.29;SOR=1.609 GT:AD:DP:GQ:PL 1/1:0,4:4:12:139,12,0 -chr2 131442793 . T C 121.84 . AC=2;AF=1.00;AN=2;DP=3;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=51.08;QD=28.55;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 -chr2 131442797 . C G 121.84 . AC=2;AF=1.00;AN=2;DP=3;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=51.08;QD=34.42;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 -chr2 131442810 . C T 121.84 . AC=2;AF=1.00;AN=2;DP=3;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=51.08;QD=28.53;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 -chr2 131442829 . C T 121.84 . AC=2;AF=1.00;AN=2;DP=3;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=51.08;QD=27.23;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 -chr2 131442842 . T C 121.84 . AC=2;AF=1.00;AN=2;DP=3;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=51.08;QD=29.52;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 -chr2 131442846 . A G 121.84 . AC=2;AF=1.00;AN=2;DP=3;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=51.08;QD=33.47;SOR=1.179 GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 -chr2 131443009 . A G 117.14 . AC=2;AF=1.00;AN=2;DP=5;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=27.82;QD=29.29;SOR=1.609 GT:AD:DP:GQ:PL 1/1:0,4:4:12:131,12,0 -chr2 131443024 . A G 185.97 . AC=2;AF=1.00;AN=2;DP=9;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=35.78;QD=31.00;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,6:6:18:200,18,0 -chr2 131443048 . G A 42.64 . AC=1;AF=0.500;AN=2;BaseQRankSum=0.282;DP=9;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=35.78;MQRankSum=0.000;QD=4.74;ReadPosRankSum=0.140;SOR=0.223 GT:AD:DP:GQ:PL 0/1:7,2:9:50:50,0,220 -chr2 131443052 . G T 323.05 . AC=2;AF=1.00;AN=2;DP=9;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=35.78;QD=32.91;SOR=1.402 GT:AD:DP:GQ:PL 1/1:0,9:9:27:337,27,0 -chr2 131443065 . A C 309.05 . AC=2;AF=1.00;AN=2;DP=9;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=35.78;QD=34.34;SOR=1.402 GT:AD:DP:GQ:PL 1/1:0,9:9:27:323,27,0 -chr2 131443078 . G C 309.05 . AC=2;AF=1.00;AN=2;DP=9;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=35.78;QD=34.34;SOR=1.402 GT:AD:DP:GQ:PL 1/1:0,9:9:27:323,27,0 -chr2 131443100 . G C 309.05 . AC=2;AF=1.00;AN=2;DP=9;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=35.78;QD=34.34;SOR=1.402 GT:AD:DP:GQ:PL 1/1:0,9:9:27:323,27,0 -chr2 131443144 . G A 210.96 . AC=2;AF=1.00;AN=2;DP=5;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=40.94;QD=31.31;SOR=3.611 GT:AD:DP:GQ:PL 1/1:0,5:5:15:225,15,0 -chr2 131443146 . T G 210.96 . AC=2;AF=1.00;AN=2;DP=5;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=40.94;QD=31.45;SOR=3.611 GT:AD:DP:GQ:PL 1/1:0,5:5:15:225,15,0 -chr2 131443797 . C G 78.32 . AC=2;AF=1.00;AN=2;DP=2;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=47.00;QD=33.27;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr2 131443801 . G A 78.32 . AC=2;AF=1.00;AN=2;DP=2;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=47.00;QD=31.26;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr2 131443807 . G A 78.32 . AC=2;AF=1.00;AN=2;DP=4;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=49.04;QD=27.76;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 -chr2 131443869 . A G 240.02 . AC=2;AF=1.00;AN=2;DP=7;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=39.32;QD=34.29;SOR=0.941 GT:AD:DP:GQ:PL 1/1:0,7:7:21:254,21,0 -chr2 131443961 . G A 661.06 . AC=2;AF=1.00;AN=2;DP=15;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=35.10;QD=29.09;SOR=1.112 GT:AD:DP:GQ:PL 1/1:0,15:15:45:675,45,0 -chr2 131443973 . T A 661.06 . AC=2;AF=1.00;AN=2;DP=15;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=35.10;QD=26.08;SOR=1.112 GT:AD:DP:GQ:PL 1/1:0,15:15:45:675,45,0 -chr2 131444000 . A G 526.06 . AC=2;AF=1.00;AN=2;DP=12;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=37.95;QD=33.85;SOR=1.022 GT:AD:DP:GQ:PL 1/1:0,12:12:36:540,36,0 -chr2 131444009 . A G 526.06 . AC=2;AF=1.00;AN=2;DP=12;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=37.95;QD=27.08;SOR=1.022 GT:AD:DP:GQ:PL 1/1:0,12:12:36:540,36,0 -chr2 131444045 . T C 283.02 . AC=2;AF=1.00;AN=2;DP=7;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=35.07;QD=25.42;SOR=0.941 GT:AD:DP:GQ:PL 1/1:0,7:7:21:297,21,0 -chr2 131444062 . A G 210.96 . AC=2;AF=1.00;AN=2;DP=5;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=35.61;QD=27.65;SOR=1.981 GT:AD:DP:GQ:PL 1/1:0,5:5:15:225,15,0 -chr2 131444082 . A G 78.32 . AC=2;AF=1.00;AN=2;DP=2;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=38.00;QD=29.48;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/htcaller/s001_variants.1rd/chr2.vcf.gz b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/htcaller/s001_variants.1rd/chr2.vcf.gz deleted file mode 100644 index 485014b..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/htcaller/s001_variants.1rd/chr2.vcf.gz and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/htcaller/s001_variants.1rd/chr2.vcf.gz.tbi b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/htcaller/s001_variants.1rd/chr2.vcf.gz.tbi deleted file mode 100644 index ebd3267..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/htcaller/s001_variants.1rd/chr2.vcf.gz.tbi and /dev/null differ diff --git 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results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrY_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr15_flt.vcf.gz; Date=Sat May 18 04:41:18 2024 -##bcftools_concatVersion=1.9+htslib-1.9 -##bcftools_viewCommand=view -O z -o results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr21_flt.vcf.gz; Date=Sat May 18 04:20:51 2024 -##bcftools_viewVersion=1.9+htslib-1.9 -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##filtering_status=These calls have been filtered by FilterMutectCalls to label false positives with a list of failed filters and true positives with PASS. -##reference=file:///projects/b1171/sej9799/ScanNeo2_test/ScanNeo2/resources/refs/genome.fasta -##source=FilterMutectCalls -##source=SelectVariants -##tumor_sample=unknown -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT unknown -chr1 778034 . GAA G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=1,1|1,1;DP=5;ECNT=3;GERMQ=25;MBQ=34,34;MFRL=0,0;MMQ=56,60;MPOS=31;POPAF=7.3;RPA=7,5;RU=A;STR;STRQ=93;TLOD=7.55 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.501:4:0,0:1,1:1,1:1,1,1,1 -chr1 817233 . CA C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=3,5|1,1;DP=11;ECNT=4;GERMQ=35;MBQ=34,35;MFRL=0,0;MMQ=60,30;MPOS=76;POPAF=7.3;RPA=3,2;RU=A;STR;STRQ=93;TLOD=5.39 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:8,2:0.222:10:0,0:3,1:6,1:3,5,1,1 -chr1 839183 . GA G . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=3,1|1,1;DP=6;ECNT=1;GERMQ=29;MBQ=33,33;MFRL=0,0;MMQ=22,21;MPOS=72;POPAF=7.3;RPA=7,6;RU=A;STR;STRQ=93;TLOD=4.93 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,2:0.333:6:0,0:3,1:3,1:3,1,1,1 -chr1 842922 . C CCT . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|4,4;DP=11;ECNT=1;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,31;MPOS=104;POPAF=7.3;RPA=2,3;RU=CT;STR;STRQ=93;TLOD=33.78 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.884:8:0,1:0,4:0,6:0,0,4,4 -chr1 845626 . GT G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=7,7|1,1;DP=19;ECNT=1;GERMQ=47;MBQ=34,34;MFRL=0,0;MMQ=44,60;MPOS=79;POPAF=7.3;RPA=3,2;RU=T;STR;STRQ=93;TLOD=5.17 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:14,2:0.18:16:0,0:7,1:8,1:7,7,1,1 -chr1 855378 . GTA G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|2,1;DP=4;ECNT=1;GERMQ=37;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=58;POPAF=7.3;TLOD=12.98 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.765:3:0,0:0,2:0,2:0,0,2,1 -chr1 858135 . C CT . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=3,3|1,1;DP=8;ECNT=1;GERMQ=29;MBQ=32,34;MFRL=0,0;MMQ=28,27;MPOS=45;POPAF=7.3;RPA=7,8;RU=T;STR;STRQ=93;TLOD=4.78 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,2:0.333:8:1,0:2,1:3,1:3,3,1,1 -chr1 859166 . CTTA C . map_qual;slippage;weak_evidence AS_FilterStatus=weak_evidence,map_qual;AS_SB_TABLE=3,3|0,1;DP=7;ECNT=1;GERMQ=26;MBQ=34,34;MFRL=0,0;MMQ=29,22;MPOS=53;POPAF=7.3;RPA=3,2;RU=TTA;STR;STRQ=1;TLOD=3.03 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,1:0.286:7:0,0:3,0:4,1:3,3,0,1 -chr1 902949 . G GC . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=2;GERMQ=33;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=110;POPAF=7.3;RPA=4,5;RU=C;STR;STRQ=93;TLOD=6.22 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 906014 . GC G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4,6|1,1;DP=13;ECNT=1;GERMQ=39;MBQ=33,30;MFRL=0,0;MMQ=60,60;MPOS=89;POPAF=7.3;RPA=3,2;RU=C;STR;STRQ=93;TLOD=4.61 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:10,2:0.2:12:0,0:3,1:7,1:4,6,1,1 -chr1 907236 . TAAA T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=4;ECNT=1;GERMQ=26;MBQ=0,23;MFRL=0,0;MMQ=60,60;MPOS=71;POPAF=7.3;RPA=14,11;RU=A;STR;STRQ=93;TLOD=7.69 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.686:2:0,0:0,1:0,1:0,0,1,1 -chr1 910940 . C CT . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=6,2|1,1;DP=10;ECNT=5;GERMQ=32;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=93;POPAF=7.3;RPA=4,5;RU=T;STR;STRQ=93;TLOD=4.82 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:8,2:0.222:10:0,0:6,1:6,1:6,2,1,1 -chr1 911220 . CT C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|6,6;DP=12;ECNT=2;GERMQ=65;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=26;POPAF=7.3;RPA=2,1;RU=T;STR;STRQ=93;TLOD=45.63 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,12:0.875:12:0,0:0,6:0,6:0|1:911219_T_G:911219:0,0,6,6 -chr1 913274 . TG T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=4,2|3,3;DP=12;ECNT=3;GERMQ=26;MBQ=31,33;MFRL=0,0;MMQ=60,60;MPOS=77;POPAF=7.3;RPA=3,2;RU=G;STR;STRQ=93;TLOD=18.97 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,6:0.444:12:0,0:3,3:4,3:4,2,3,3 -chr1 913870 . CCG C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4,4|1,1;DP=13;ECNT=1;GERMQ=33;MBQ=35,35;MFRL=0,0;MMQ=60,60;MPOS=82;POPAF=7.3;RPA=2,1;RU=CG;STR;STRQ=93;TLOD=7.33 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:8,2:0.245:10:0,0:4,1:5,1:4,4,1,1 -chr1 921056 . TG T . weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=3,2|1,1;DP=7;ECNT=2;GERMQ=30;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=82;POPAF=7.3;RPA=4,3;RU=G;STR;STRQ=93;TLOD=3.77 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:5,2:0.335:7:0,0:2,1:3,1:3,2,1,1 -chr1 932613 . GTTTC G . slippage AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=4;ECNT=1;GERMQ=27;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=38;POPAF=7.3;RPA=2,1;RU=TTTC;STR;STRQ=1;TLOD=6.74 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.687:2:0,0:0,1:0,1:0,0,1,1 -chr1 933548 . A AG . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=2;GERMQ=33;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=110;POPAF=7.3;RPA=6,7;RU=G;STR;STRQ=93;TLOD=5.92 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 937396 . GCC G . weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=0,0|0,0;DP=1;ECNT=1;GERMQ=32;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=125;POPAF=7.3;RPA=11,9;RU=C;STR;STRQ=93;TLOD=3.25 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,0:0,1:0,0,0,1 -chr1 942701 . GGC G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=17,18|1,1;DP=37;ECNT=1;GERMQ=93;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=69;POPAF=7.3;RPA=2,1;RU=GC;STR;STRQ=93;TLOD=6.27 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:35,2:0.091:37:1,0:17,1:19,1:17,18,1,1 -chr1 944259 . CAA C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=42,42|1,1;DP=87;ECNT=3;GERMQ=93;MBQ=34,34;MFRL=0,0;MMQ=60,60;MPOS=100;POPAF=7.3;RPA=6,4;RU=A;STR;STRQ=93;TLOD=5.41 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:84,2:0.039:86:0,0:43,1:48,1:42,42,1,1 -chr1 945259 . TC T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2,1|0,2;DP=5;ECNT=1;GERMQ=28;MBQ=34,31;MFRL=0,0;MMQ=60,60;MPOS=53;POPAF=7.3;RPA=2,1;RU=C;STR;STRQ=93;TLOD=6 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,2:0.5:5:0,0:2,0:2,2:2,1,0,2 -chr1 949171 . GAGAA G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1,1|2,1;DP=7;ECNT=1;GERMQ=17;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=26;POPAF=7.3;TLOD=12.4 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,3:0.606:5:0,0:1,2:1,2:1,1,2,1 -chr1 954827 . GA G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|2,1;DP=6;ECNT=1;GERMQ=39;MBQ=0,29;MFRL=0,0;MMQ=60,60;MPOS=29;POPAF=7.3;RPA=11,10;RU=A;STR;STRQ=3;TLOD=6.07 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.764:3:0,0:0,1:0,2:0,0,2,1 -chr1 958810 . T TG . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5,7|1,1;DP=17;ECNT=1;GERMQ=40;MBQ=33,31;MFRL=0,0;MMQ=60,60;MPOS=95;POPAF=7.3;RPA=6,7;RU=G;STR;STRQ=93;TLOD=4.3 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:12,2:0.192:14:0,0:5,1:7,1:5,7,1,1 -chr1 965337 . CTTAT C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4,4|7,8;DP=24;ECNT=2;GERMQ=17;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=63;POPAF=7.3;RPA=2,1;RU=TTAT;STR;STRQ=40;TLOD=63.05 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:8,15:0.625:23:0,0:3,8:5,9:0|1:965337_CTTAT_C:965337:4,4,7,8 -chr1 965666 . ACC A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=6,6|3,4;DP=20;ECNT=4;GERMQ=26;MBQ=32,32;MFRL=0,0;MMQ=60,60;MPOS=83;POPAF=7.3;RPA=4,2;RU=C;STR;STRQ=93;TLOD=28.13 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:12,7:0.416:19:0,0:6,3:6,4:6,6,3,4 -chr1 967376 . AC A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|3,1;DP=4;ECNT=2;GERMQ=42;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=46;POPAF=7.3;RPA=10,9;RU=C;STR;STRQ=10;TLOD=17.4 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,4:0.8:4:0,0:0,3:0,3:0|1:967376_AC_A:967376:0,0,3,1 -chr1 969377 . A ATG . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|2,3;DP=5;ECNT=1;GERMQ=40;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=52;POPAF=7.3;RPA=3,4;RU=TG;STR;STRQ=93;TLOD=17.13 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.8:5:0,1:0,2:0,3:0,0,2,3 -chr1 969663 . CAT C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=34;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=67;POPAF=7.3;RPA=2,1;RU=AT;STR;STRQ=93;TLOD=8.7 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 975492 . GCT G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=3,4|1,1;DP=9;ECNT=3;GERMQ=31;MBQ=35,33;MFRL=0,0;MMQ=60,60;MPOS=57;POPAF=7.3;RPA=2,1;RU=CT;STR;STRQ=93;TLOD=7.52 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,2:0.286:9:0,0:3,1:4,1:3,4,1,1 -chr1 998935 . CA C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1,2|1,1;DP=6;ECNT=2;GERMQ=28;MBQ=34,34;MFRL=0,0;MMQ=60,60;MPOS=113;POPAF=7.3;RPA=3,2;RU=A;STR;STRQ=93;TLOD=5.07 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,2:0.4:5:0,0:2,1:2,1:1,2,1,1 -chr1 1013041 . A AAAC . germline;slippage;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=0,0|0,0;DP=1;ECNT=1;GERMQ=1;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=131;POPAF=7.3;RPA=3,4;RU=AAC;STR;STRQ=1;TLOD=4.19 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 1013466 . T TA . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0,0|3,1;DP=4;ECNT=3;GERMQ=39;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=80;POPAF=7.3;RPA=1,2;RU=A;STR;STRQ=93;TLOD=17.4 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,4:0.8:4:0,0:0,3:0,3:0|1:1013466_T_TA:1013466:0,0,3,1 -chr1 1014733 . GAAGT G . base_qual;weak_evidence AS_FilterStatus=weak_evidence,base_qual;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=19;MBQ=31,14;MFRL=0,0;MMQ=60,60;MPOS=79;POPAF=7.3;TLOD=3.72 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,1:0.5:2:0,0:0,0:1,1:0,1,0,1 -chr1 1039411 . T TG,TGG . PASS AS_FilterStatus=SITE|SITE;AS_SB_TABLE=0,0|2,2|2,2;DP=8;ECNT=1;GERMQ=22;MBQ=0,30,32;MFRL=0,0,0;MMQ=60,60,60;MPOS=55,84;POPAF=7.3,7.3;RPA=8,9,10;RU=G;STR;STRQ=7;TLOD=10.1,10.18 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1/2:0,4,4:0.429,0.429:8:0,0,0:0,2,2:0,2,2:0,0,4,4 -chr1 1042767 . AG A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4,2|2,1;DP=9;ECNT=1;GERMQ=29;MBQ=31,33;MFRL=0,0;MMQ=60,60;MPOS=45;POPAF=7.3;RPA=7,6;RU=G;STR;STRQ=93;TLOD=7.33 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,3:0.375:9:0,0:4,2:4,2:4,2,2,1 -chr1 1052857 . ATG A . slippage AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=34;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=71;POPAF=7.3;RPA=4,3;RU=TG;STR;STRQ=1;TLOD=7.99 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1066505 . TG T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=6,5|1,1;DP=13;ECNT=1;GERMQ=41;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=58;POPAF=7.3;RPA=5,4;RU=G;STR;STRQ=93;TLOD=4.58 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:11,2:0.182:13:0,0:5,1:8,1:6,5,1,1 -chr1 1071750 . GC G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=4,8|1,2;DP=15;ECNT=4;GERMQ=39;MBQ=35,35;MFRL=0,0;MMQ=60,60;MPOS=98;POPAF=7.3;RPA=6,5;RU=C;STR;STRQ=93;TLOD=6.74 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:12,3:0.231:15:0,0:3,1:9,2:4,8,1,2 -chr1 1071872 . C CG . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|2,1;DP=4;ECNT=4;GERMQ=36;MBQ=0,29;MFRL=0,0;MMQ=60,60;MPOS=62;POPAF=7.3;RPA=7,8;RU=G;STR;STRQ=93;TLOD=7.2 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.764:3:0,0:0,2:0,2:0,0,2,1 -chr1 1085543 . A AG . weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=26;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=40;POPAF=7.3;TLOD=3.26 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,1:0.5:2:1,0:0,0:1,1:0,1,0,1 -chr1 1095242 . C CA . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1,1|0,2;DP=5;ECNT=2;GERMQ=25;MBQ=31,33;MFRL=0,0;MMQ=60,60;MPOS=59;POPAF=7.3;RPA=6,7;RU=A;STR;STRQ=93;TLOD=5.14 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.6:4:0,0:1,1:1,2:1,1,0,2 -chr1 1097893 . C CT . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=33;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=78;POPAF=7.3;RPA=6,7;RU=T;STR;STRQ=93;TLOD=5.92 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1104818 . GAA G . weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=34;MBQ=0,30;MFRL=0,0;MMQ=60,60;MPOS=113;POPAF=7.3;RPA=11,9;RU=A;STR;STRQ=93;TLOD=3.56 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1114927 . CG C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=3;ECNT=1;GERMQ=37;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=53;POPAF=7.3;RPA=3,2;RU=G;STR;STRQ=93;TLOD=6.77 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.684:2:0,0:0,1:0,1:0,0,1,1 -chr1 1163440 . TCC T,TC . PASS AS_FilterStatus=SITE|SITE;AS_SB_TABLE=0,0|2,2|2,1;DP=8;ECNT=1;GERMQ=24;MBQ=0,34,33;MFRL=0,0,0;MMQ=60,60,60;MPOS=40,12;POPAF=7.3,7.3;RPA=9,7,8;RU=C;STR;STRQ=93;TLOD=10.68,7.41 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1/2:0,4,3:0.375,0.5:7:0,0,0:0,2,3:0,2,3:0,0,4,3 -chr1 1168310 . T TCA . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1,0|5,3;DP=10;ECNT=1;GERMQ=34;MBQ=15,33;MFRL=0,0;MMQ=60,60;MPOS=61;POPAF=7.3;TLOD=34.1 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,8:0.88:9:0,0:0,4:0,6:1,0,5,3 -chr1 1233710 . GT G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=99,106|2,2;DP=211;ECNT=1;GERMQ=93;MBQ=34,34;MFRL=0,0;MMQ=60,60;MPOS=19;POPAF=7.3;RPA=3,2;RU=T;STR;STRQ=93;TLOD=8.3 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:205,4:0.024:209:9,0:100,2:122,2:99,106,2,2 diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_somatic.short.indels.vcf.gz b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_somatic.short.indels.vcf.gz deleted file mode 100644 index af2dd17..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_somatic.short.indels.vcf.gz and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_somatic.short.indels.vcf.idx b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_somatic.short.indels.vcf.idx deleted file mode 100644 index 16b137c..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_somatic.short.indels.vcf.idx and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_somatic.short.indels_augmented.vcf b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_somatic.short.indels_augmented.vcf deleted file mode 100644 index d3bee2b..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_somatic.short.indels_augmented.vcf +++ /dev/null @@ -1,153 +0,0 @@ -##fileformat=VCFv4.2 -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##GATKCommandLine= -##GATKCommandLine= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##MutectVersion=2.2 -##bcftools_concatCommand=concat -O z -a -o results/indel-test_SE/rnaseq/indel/mutect2/s001_variants.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr21_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr11_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr9_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr6_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr3_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr12_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr10_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrMT_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr13_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr8_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr14_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr5_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr2_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr22_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr19_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr20_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr17_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr18_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr16_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr7_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr4_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrX_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr1_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrY_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr15_flt.vcf.gz; Date=Sat May 18 04:41:18 2024 -##bcftools_concatVersion=1.9+htslib-1.9 -##bcftools_viewCommand=view -O z -o results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr21_flt.vcf.gz; Date=Sat May 18 04:20:51 2024 -##bcftools_viewVersion=1.9+htslib-1.9 -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##filtering_status=These calls have been filtered by FilterMutectCalls to label false positives with a list of failed filters and true positives with PASS. -##reference=file:///projects/b1171/sej9799/ScanNeo2_test/ScanNeo2/resources/refs/genome.fasta -##source=FilterMutectCalls -##source=SelectVariants -##tumor_sample=unknown -##INFO= -##INFO= -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT unknown -chr1 778034 . GAA G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C1;DP=5;ECNT=3;GERMQ=25;MBQ=34,34;MFRL=0,0;MMQ=56,60;MPOS=31;POPAF=7.3;RPA=7,5;RU=A;STR;STRQ=93;TLOD=7.55;SRC=short_indel;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.501:4:0,0:1,1:1,1:1,1,1,1 -chr1 817233 . CA C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=3%2C5|1%2C1;DP=11;ECNT=4;GERMQ=35;MBQ=34,35;MFRL=0,0;MMQ=60,30;MPOS=76;POPAF=7.3;RPA=3,2;RU=A;STR;STRQ=93;TLOD=5.39;SRC=short_indel;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:8,2:0.222:10:0,0:3,1:6,1:3,5,1,1 -chr1 839183 . GA G . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=3%2C1|1%2C1;DP=6;ECNT=1;GERMQ=29;MBQ=33,33;MFRL=0,0;MMQ=22,21;MPOS=72;POPAF=7.3;RPA=7,6;RU=A;STR;STRQ=93;TLOD=4.93;SRC=short_indel;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,2:0.333:6:0,0:3,1:3,1:3,1,1,1 -chr1 842922 . C CCT . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C4;DP=11;ECNT=1;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,31;MPOS=104;POPAF=7.3;RPA=2,3;RU=CT;STR;STRQ=93;TLOD=33.78;SRC=short_indel;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.884:8:0,1:0,4:0,6:0,0,4,4 -chr1 845626 . GT G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=7%2C7|1%2C1;DP=19;ECNT=1;GERMQ=47;MBQ=34,34;MFRL=0,0;MMQ=44,60;MPOS=79;POPAF=7.3;RPA=3,2;RU=T;STR;STRQ=93;TLOD=5.17;SRC=short_indel;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:14,2:0.18:16:0,0:7,1:8,1:7,7,1,1 -chr1 855378 . GTA G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C1;DP=4;ECNT=1;GERMQ=37;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=58;POPAF=7.3;TLOD=12.98;SRC=short_indel;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.765:3:0,0:0,2:0,2:0,0,2,1 -chr1 858135 . C CT . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=3%2C3|1%2C1;DP=8;ECNT=1;GERMQ=29;MBQ=32,34;MFRL=0,0;MMQ=28,27;MPOS=45;POPAF=7.3;RPA=7,8;RU=T;STR;STRQ=93;TLOD=4.78;SRC=short_indel;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,2:0.333:8:1,0:2,1:3,1:3,3,1,1 -chr1 859166 . CTTA C . map_qual;slippage;weak_evidence AS_FilterStatus=weak_evidence,map_qual;AS_SB_TABLE=3%2C3|0%2C1;DP=7;ECNT=1;GERMQ=26;MBQ=34,34;MFRL=0,0;MMQ=29,22;MPOS=53;POPAF=7.3;RPA=3,2;RU=TTA;STR;STRQ=1;TLOD=3.03;SRC=short_indel;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,1:0.286:7:0,0:3,0:4,1:3,3,0,1 -chr1 902949 . G GC . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=2;GERMQ=33;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=110;POPAF=7.3;RPA=4,5;RU=C;STR;STRQ=93;TLOD=6.22;SRC=short_indel;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 906014 . GC G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4%2C6|1%2C1;DP=13;ECNT=1;GERMQ=39;MBQ=33,30;MFRL=0,0;MMQ=60,60;MPOS=89;POPAF=7.3;RPA=3,2;RU=C;STR;STRQ=93;TLOD=4.61;SRC=short_indel;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:10,2:0.2:12:0,0:3,1:7,1:4,6,1,1 -chr1 907236 . TAAA T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=4;ECNT=1;GERMQ=26;MBQ=0,23;MFRL=0,0;MMQ=60,60;MPOS=71;POPAF=7.3;RPA=14,11;RU=A;STR;STRQ=93;TLOD=7.69;SRC=short_indel;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.686:2:0,0:0,1:0,1:0,0,1,1 -chr1 910940 . C CT . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=6%2C2|1%2C1;DP=10;ECNT=5;GERMQ=32;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=93;POPAF=7.3;RPA=4,5;RU=T;STR;STRQ=93;TLOD=4.82;SRC=short_indel;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:8,2:0.222:10:0,0:6,1:6,1:6,2,1,1 -chr1 911220 . CT C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|6%2C6;DP=12;ECNT=2;GERMQ=65;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=26;POPAF=7.3;RPA=2,1;RU=T;STR;STRQ=93;TLOD=45.63;SRC=short_indel;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,12:0.875:12:0,0:0,6:0,6:0|1:911219_T_G:911219:0,0,6,6 -chr1 913274 . TG T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=4%2C2|3%2C3;DP=12;ECNT=3;GERMQ=26;MBQ=31,33;MFRL=0,0;MMQ=60,60;MPOS=77;POPAF=7.3;RPA=3,2;RU=G;STR;STRQ=93;TLOD=18.97;SRC=short_indel;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,6:0.444:12:0,0:3,3:4,3:4,2,3,3 -chr1 913870 . CCG C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4%2C4|1%2C1;DP=13;ECNT=1;GERMQ=33;MBQ=35,35;MFRL=0,0;MMQ=60,60;MPOS=82;POPAF=7.3;RPA=2,1;RU=CG;STR;STRQ=93;TLOD=7.33;SRC=short_indel;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:8,2:0.245:10:0,0:4,1:5,1:4,4,1,1 -chr1 921056 . TG T . weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=3%2C2|1%2C1;DP=7;ECNT=2;GERMQ=30;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=82;POPAF=7.3;RPA=4,3;RU=G;STR;STRQ=93;TLOD=3.77;SRC=short_indel;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:5,2:0.335:7:0,0:2,1:3,1:3,2,1,1 -chr1 932613 . GTTTC G . slippage AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=4;ECNT=1;GERMQ=27;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=38;POPAF=7.3;RPA=2,1;RU=TTTC;STR;STRQ=1;TLOD=6.74;SRC=short_indel;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.687:2:0,0:0,1:0,1:0,0,1,1 -chr1 933548 . A AG . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=2;GERMQ=33;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=110;POPAF=7.3;RPA=6,7;RU=G;STR;STRQ=93;TLOD=5.92;SRC=short_indel;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 937396 . GCC G . weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=32;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=125;POPAF=7.3;RPA=11,9;RU=C;STR;STRQ=93;TLOD=3.25;SRC=short_indel;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,0:0,1:0,0,0,1 -chr1 942701 . GGC G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=17%2C18|1%2C1;DP=37;ECNT=1;GERMQ=93;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=69;POPAF=7.3;RPA=2,1;RU=GC;STR;STRQ=93;TLOD=6.27;SRC=short_indel;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:35,2:0.091:37:1,0:17,1:19,1:17,18,1,1 -chr1 944259 . CAA C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=42%2C42|1%2C1;DP=87;ECNT=3;GERMQ=93;MBQ=34,34;MFRL=0,0;MMQ=60,60;MPOS=100;POPAF=7.3;RPA=6,4;RU=A;STR;STRQ=93;TLOD=5.41;SRC=short_indel;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:84,2:0.039:86:0,0:43,1:48,1:42,42,1,1 -chr1 945259 . TC T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C1|0%2C2;DP=5;ECNT=1;GERMQ=28;MBQ=34,31;MFRL=0,0;MMQ=60,60;MPOS=53;POPAF=7.3;RPA=2,1;RU=C;STR;STRQ=93;TLOD=6.0;SRC=short_indel;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,2:0.5:5:0,0:2,0:2,2:2,1,0,2 -chr1 949171 . GAGAA G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|2%2C1;DP=7;ECNT=1;GERMQ=17;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=26;POPAF=7.3;TLOD=12.4;SRC=short_indel;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,3:0.606:5:0,0:1,2:1,2:1,1,2,1 -chr1 954827 . GA G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C1;DP=6;ECNT=1;GERMQ=39;MBQ=0,29;MFRL=0,0;MMQ=60,60;MPOS=29;POPAF=7.3;RPA=11,10;RU=A;STR;STRQ=3;TLOD=6.07;SRC=short_indel;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.764:3:0,0:0,1:0,2:0,0,2,1 -chr1 958810 . T TG . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5%2C7|1%2C1;DP=17;ECNT=1;GERMQ=40;MBQ=33,31;MFRL=0,0;MMQ=60,60;MPOS=95;POPAF=7.3;RPA=6,7;RU=G;STR;STRQ=93;TLOD=4.3;SRC=short_indel;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:12,2:0.192:14:0,0:5,1:7,1:5,7,1,1 -chr1 965337 . CTTAT C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4%2C4|7%2C8;DP=24;ECNT=2;GERMQ=17;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=63;POPAF=7.3;RPA=2,1;RU=TTAT;STR;STRQ=40;TLOD=63.05;SRC=short_indel;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:8,15:0.625:23:0,0:3,8:5,9:0|1:965337_CTTAT_C:965337:4,4,7,8 -chr1 965666 . ACC A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=6%2C6|3%2C4;DP=20;ECNT=4;GERMQ=26;MBQ=32,32;MFRL=0,0;MMQ=60,60;MPOS=83;POPAF=7.3;RPA=4,2;RU=C;STR;STRQ=93;TLOD=28.13;SRC=short_indel;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:12,7:0.416:19:0,0:6,3:6,4:6,6,3,4 -chr1 967376 . AC A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C1;DP=4;ECNT=2;GERMQ=42;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=46;POPAF=7.3;RPA=10,9;RU=C;STR;STRQ=10;TLOD=17.4;SRC=short_indel;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,4:0.8:4:0,0:0,3:0,3:0|1:967376_AC_A:967376:0,0,3,1 -chr1 969377 . A ATG . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C3;DP=5;ECNT=1;GERMQ=40;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=52;POPAF=7.3;RPA=3,4;RU=TG;STR;STRQ=93;TLOD=17.13;SRC=short_indel;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.8:5:0,1:0,2:0,3:0,0,2,3 -chr1 969663 . CAT C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=34;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=67;POPAF=7.3;RPA=2,1;RU=AT;STR;STRQ=93;TLOD=8.7;SRC=short_indel;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 975492 . GCT G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=3%2C4|1%2C1;DP=9;ECNT=3;GERMQ=31;MBQ=35,33;MFRL=0,0;MMQ=60,60;MPOS=57;POPAF=7.3;RPA=2,1;RU=CT;STR;STRQ=93;TLOD=7.52;SRC=short_indel;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,2:0.286:9:0,0:3,1:4,1:3,4,1,1 -chr1 998935 . CA C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C2|1%2C1;DP=6;ECNT=2;GERMQ=28;MBQ=34,34;MFRL=0,0;MMQ=60,60;MPOS=113;POPAF=7.3;RPA=3,2;RU=A;STR;STRQ=93;TLOD=5.07;SRC=short_indel;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,2:0.4:5:0,0:2,1:2,1:1,2,1,1 -chr1 1013041 . A AAAC . germline;slippage;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=1;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=131;POPAF=7.3;RPA=3,4;RU=AAC;STR;STRQ=1;TLOD=4.19;SRC=short_indel;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 1013466 . T TA . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C1;DP=4;ECNT=3;GERMQ=39;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=80;POPAF=7.3;RPA=1,2;RU=A;STR;STRQ=93;TLOD=17.4;SRC=short_indel;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,4:0.8:4:0,0:0,3:0,3:0|1:1013466_T_TA:1013466:0,0,3,1 -chr1 1014733 . GAAGT G . base_qual;weak_evidence AS_FilterStatus=weak_evidence,base_qual;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=19;MBQ=31,14;MFRL=0,0;MMQ=60,60;MPOS=79;POPAF=7.3;TLOD=3.72;SRC=short_indel;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,1:0.5:2:0,0:0,0:1,1:0,1,0,1 -chr1 1039411 . T TG,TGG . PASS AS_FilterStatus=SITE|SITE;AS_SB_TABLE=0%2C0|2%2C2|2%2C2;DP=8;ECNT=1;GERMQ=22;MBQ=0,30,32;MFRL=0,0,0;MMQ=60,60,60;MPOS=55,84;POPAF=7.3,7.3;RPA=8,9,10;RU=G;STR;STRQ=7;TLOD=10.1,10.18;SRC=short_indel;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1/2:0,4,4:0.429,0.429:8:0,0,0:0,2,2:0,2,2:0,0,4,4 -chr1 1042767 . AG A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4%2C2|2%2C1;DP=9;ECNT=1;GERMQ=29;MBQ=31,33;MFRL=0,0;MMQ=60,60;MPOS=45;POPAF=7.3;RPA=7,6;RU=G;STR;STRQ=93;TLOD=7.33;SRC=short_indel;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,3:0.375:9:0,0:4,2:4,2:4,2,2,1 -chr1 1052857 . ATG A . slippage AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=34;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=71;POPAF=7.3;RPA=4,3;RU=TG;STR;STRQ=1;TLOD=7.99;SRC=short_indel;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1066505 . TG T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=6%2C5|1%2C1;DP=13;ECNT=1;GERMQ=41;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=58;POPAF=7.3;RPA=5,4;RU=G;STR;STRQ=93;TLOD=4.58;SRC=short_indel;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:11,2:0.182:13:0,0:5,1:8,1:6,5,1,1 -chr1 1071750 . GC G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=4%2C8|1%2C2;DP=15;ECNT=4;GERMQ=39;MBQ=35,35;MFRL=0,0;MMQ=60,60;MPOS=98;POPAF=7.3;RPA=6,5;RU=C;STR;STRQ=93;TLOD=6.74;SRC=short_indel;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:12,3:0.231:15:0,0:3,1:9,2:4,8,1,2 -chr1 1071872 . C CG . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C1;DP=4;ECNT=4;GERMQ=36;MBQ=0,29;MFRL=0,0;MMQ=60,60;MPOS=62;POPAF=7.3;RPA=7,8;RU=G;STR;STRQ=93;TLOD=7.2;SRC=short_indel;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.764:3:0,0:0,2:0,2:0,0,2,1 -chr1 1085543 . A AG . weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=26;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=40;POPAF=7.3;TLOD=3.26;SRC=short_indel;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,1:0.5:2:1,0:0,0:1,1:0,1,0,1 -chr1 1095242 . C CA . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|0%2C2;DP=5;ECNT=2;GERMQ=25;MBQ=31,33;MFRL=0,0;MMQ=60,60;MPOS=59;POPAF=7.3;RPA=6,7;RU=A;STR;STRQ=93;TLOD=5.14;SRC=short_indel;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.6:4:0,0:1,1:1,2:1,1,0,2 -chr1 1097893 . C CT . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=33;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=78;POPAF=7.3;RPA=6,7;RU=T;STR;STRQ=93;TLOD=5.92;SRC=short_indel;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1104818 . GAA G . weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=34;MBQ=0,30;MFRL=0,0;MMQ=60,60;MPOS=113;POPAF=7.3;RPA=11,9;RU=A;STR;STRQ=93;TLOD=3.56;SRC=short_indel;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1114927 . CG C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=3;ECNT=1;GERMQ=37;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=53;POPAF=7.3;RPA=3,2;RU=G;STR;STRQ=93;TLOD=6.77;SRC=short_indel;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.684:2:0,0:0,1:0,1:0,0,1,1 -chr1 1163440 . TCC T,TC . PASS AS_FilterStatus=SITE|SITE;AS_SB_TABLE=0%2C0|2%2C2|2%2C1;DP=8;ECNT=1;GERMQ=24;MBQ=0,34,33;MFRL=0,0,0;MMQ=60,60,60;MPOS=40,12;POPAF=7.3,7.3;RPA=9,7,8;RU=C;STR;STRQ=93;TLOD=10.68,7.41;SRC=short_indel;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1/2:0,4,3:0.375,0.5:7:0,0,0:0,2,3:0,2,3:0,0,4,3 -chr1 1168310 . T TCA . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C0|5%2C3;DP=10;ECNT=1;GERMQ=34;MBQ=15,33;MFRL=0,0;MMQ=60,60;MPOS=61;POPAF=7.3;TLOD=34.1;SRC=short_indel;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,8:0.88:9:0,0:0,4:0,6:1,0,5,3 -chr1 1233710 . GT G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=99%2C106|2%2C2;DP=211;ECNT=1;GERMQ=93;MBQ=34,34;MFRL=0,0;MMQ=60,60;MPOS=19;POPAF=7.3;RPA=3,2;RU=T;STR;STRQ=93;TLOD=8.3;SRC=short_indel;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:205,4:0.024:209:9,0:100,2:122,2:99,106,2,2 diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_somatic.snvs.vcf b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_somatic.snvs.vcf deleted file mode 100644 index 761272c..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_somatic.snvs.vcf +++ /dev/null @@ -1,567 +0,0 @@ -##fileformat=VCFv4.2 -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##GATKCommandLine= -##GATKCommandLine= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##MutectVersion=2.2 -##bcftools_concatCommand=concat -O z -a -o results/indel-test_SE/rnaseq/indel/mutect2/s001_variants.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr21_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr11_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr9_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr6_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr3_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr12_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr10_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrMT_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr13_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr8_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr14_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr5_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr2_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr22_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr19_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr20_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr17_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr18_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr16_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr7_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr4_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrX_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr1_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrY_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr15_flt.vcf.gz; Date=Sat May 18 04:41:18 2024 -##bcftools_concatVersion=1.9+htslib-1.9 -##bcftools_viewCommand=view -O z -o results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr21_flt.vcf.gz; Date=Sat May 18 04:20:51 2024 -##bcftools_viewVersion=1.9+htslib-1.9 -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##filtering_status=These calls have been filtered by FilterMutectCalls to label false positives with a list of failed filters and true positives with PASS. -##reference=file:///projects/b1171/sej9799/ScanNeo2_test/ScanNeo2/resources/refs/genome.fasta -##source=FilterMutectCalls -##source=SelectVariants -##tumor_sample=unknown -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT unknown -chrMT 9766 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=17,14|1,1;DP=33;ECNT=4;GERMQ=39;MBQ=34,33;MFRL=0,0;MMQ=41,36;MPOS=131;POPAF=7.3;TLOD=4.92 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:31,2:0.1:33:0,0:16,1:17,1:17,14,1,1 -chrMT 9771 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=16,13|1,1;DP=33;ECNT=4;GERMQ=34;MBQ=33,32;MFRL=0,0;MMQ=41,38;MPOS=121;POPAF=7.3;TLOD=4.86 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:29,2:0.104:31:0,0:16,1:16,1:16,13,1,1 -chrMT 9774 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=9,7|6,6;DP=31;ECNT=4;GERMQ=1;MBQ=32,33;MFRL=0,0;MMQ=42,41;MPOS=137;POPAF=7.3;TLOD=39.89 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:16,12:0.411:28:0,0:9,6:9,6:9,7,6,6 -chrMT 9780 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,1|1,1;DP=15;ECNT=4;GERMQ=1;MBQ=31,21;MFRL=0,0;MMQ=33,54;MPOS=141;POPAF=7.3;TLOD=3.34 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,2:0.5:3:0,0:0,0:1,1:0,1,1,1 -chr8 213370 . C G . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=3;GERMQ=1;MBQ=0,35;MFRL=0,0;MMQ=60,22;MPOS=73;POPAF=7.3;TLOD=5.05 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr8 213387 . C T . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=3;GERMQ=1;MBQ=0,33;MFRL=0,0;MMQ=60,22;MPOS=56;POPAF=7.3;TLOD=5.05 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr8 213438 . C T . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=3;GERMQ=1;MBQ=0,32;MFRL=0,0;MMQ=60,22;MPOS=5;POPAF=7.3;TLOD=5.05 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr2 130229486 . G A . clustered_events;haplotype;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0,0|4,4;DP=8;ECNT=3;GERMQ=59;MBQ=0,32;MFRL=0,0;MMQ=60,26;MPOS=5;POPAF=7.3;TLOD=35.3 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,8:0.833:8:0,0:0,4:0,4:0|1:130229486_G_A:130229486:0,0,4,4 -chr2 130229492 . G A . clustered_events;haplotype;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0,0|4,7;DP=12;ECNT=3;GERMQ=67;MBQ=0,32;MFRL=0,0;MMQ=60,21;MPOS=9;POPAF=7.3;TLOD=42.42 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,11:0.893:11:0,3:0,4:0,7:0|1:130229486_G_A:130229486:0,0,4,7 -chr2 130229520 . G A . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0,0|6,11;DP=17;ECNT=3;GERMQ=85;MBQ=0,34;MFRL=0,0;MMQ=60,21;MPOS=28;POPAF=7.3;TLOD=45.76 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,17:0.923:17:0,4:0,6:0,11:0,0,6,11 -chr2 130229579 . T C . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0,0|10,13;DP=25;ECNT=3;GERMQ=93;MBQ=0,34;MFRL=0,0;MMQ=60,20;MPOS=96;POPAF=7.3;TLOD=58.28 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,23:0.939:23:0,4:0,10:0,14:0,0,10,13 -chr2 130229607 . G C . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0,0|2,7;DP=18;ECNT=3;GERMQ=62;MBQ=0,35;MFRL=0,0;MMQ=60,20;MPOS=115;POPAF=7.3;TLOD=21.45 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,9:0.906:9:0,3:0,2:0,7:0,0,2,7 -chr2 130229647 . A T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|4,6;DP=11;ECNT=3;GERMQ=65;MBQ=0,33;MFRL=0,0;MMQ=60,52;MPOS=10;POPAF=7.3;TLOD=33.32 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,10:0.88:10:0,2:0,4:0,6:0,0,4,6 -chr2 130229689 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|6,8;DP=14;ECNT=8;GERMQ=76;MBQ=0,33;MFRL=0,0;MMQ=60,50;MPOS=50;POPAF=7.3;TLOD=50.62 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,14:0.9:14:0,2:0,6:0,8:0,0,6,8 -chr2 130229709 . T G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|6,8;DP=14;ECNT=8;GERMQ=76;MBQ=0,33;MFRL=0,0;MMQ=60,50;MPOS=70;POPAF=7.3;TLOD=49.72 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,14:0.9:14:0,2:0,6:0,8:0,0,6,8 -chr2 130229735 . T G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|6,8;DP=14;ECNT=8;GERMQ=76;MBQ=0,33;MFRL=0,0;MMQ=60,50;MPOS=96;POPAF=7.3;TLOD=38.77 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,14:0.9:14:0,2:0,6:0,8:0,0,6,8 -chr2 130229747 . A G . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0,0|7,10;DP=17;ECNT=8;GERMQ=85;MBQ=0,32;MFRL=0,0;MMQ=60,49;MPOS=105;POPAF=7.3;TLOD=75.46 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,17:0.917:17:0,3:0,7:0,10:0|1:130229747_A_G:130229747:0,0,7,10 -chr2 130229753 . G A . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0,0|8,11;DP=19;ECNT=8;GERMQ=91;MBQ=0,33;MFRL=0,0;MMQ=60,49;MPOS=111;POPAF=7.3;TLOD=82.34 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,19:0.929:19:0,3:0,6:0,12:0|1:130229747_A_G:130229747:0,0,8,11 -chr2 130229756 . G A . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0,0|8,11;DP=19;ECNT=8;GERMQ=91;MBQ=0,33;MFRL=0,0;MMQ=60,49;MPOS=111;POPAF=7.3;TLOD=82.34 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,19:0.929:19:0,4:0,8:0,12:0|1:130229747_A_G:130229747:0,0,8,11 -chr2 130229803 . G C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|7,9;DP=18;ECNT=8;GERMQ=82;MBQ=0,34;MFRL=0,0;MMQ=60,41;MPOS=27;POPAF=7.3;TLOD=57.79 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,16:0.935:16:0,6:0,7:0,13:0,0,7,9 -chr2 130229817 . C G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|11,11;DP=22;ECNT=8;GERMQ=93;MBQ=0,32;MFRL=0,0;MMQ=60,40;MPOS=30;POPAF=7.3;TLOD=78.38 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,22:0.947:22:0,6:0,11:0,17:0,0,11,11 -chr2 130229920 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|12,11;DP=27;ECNT=1;GERMQ=93;MBQ=0,32;MFRL=0,0;MMQ=60,40;MPOS=99;POPAF=7.3;TLOD=79.42 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,23:0.945:23:0,3:0,12:0,15:0,0,12,11 -chr2 130230633 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|3,5;DP=8;ECNT=5;GERMQ=59;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=17;POPAF=7.3;TLOD=26.65 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.874:8:0,2:0,3:0,6:0,0,3,5 -chr2 130230668 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|7,8;DP=15;ECNT=5;GERMQ=79;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=40;POPAF=7.3;TLOD=53.27 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,15:0.923:15:0,4:0,7:0,11:0,0,7,8 -chr2 130230679 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|7,8;DP=15;ECNT=5;GERMQ=79;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=51;POPAF=7.3;TLOD=46.42 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,15:0.922:15:0,2:0,7:0,11:0,0,7,8 -chr2 130230727 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|7,8;DP=15;ECNT=5;GERMQ=79;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=99;POPAF=7.3;TLOD=52.87 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,15:0.923:15:0,4:0,7:0,11:0,0,7,8 -chr2 130230790 . A G . clustered_events;map_qual;strand_bias;weak_evidence AS_FilterStatus=weak_evidence,map_qual,strand_bias;AS_SB_TABLE=0,0|2,1;DP=7;ECNT=5;GERMQ=44;MBQ=0,31;MFRL=0,0;MMQ=60,29;MPOS=142;POPAF=7.3;TLOD=8.82 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.825:3:0,0:0,2:0,3:0,0,2,1 -chr2 130230924 . A G . map_qual;weak_evidence AS_FilterStatus=weak_evidence,map_qual;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=2;GERMQ=41;MBQ=0,33;MFRL=0,0;MMQ=60,21;MPOS=32;POPAF=7.3;TLOD=4.85 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr2 130231008 . C T . map_qual;weak_evidence AS_FilterStatus=weak_evidence,map_qual;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=2;GERMQ=41;MBQ=0,33;MFRL=0,0;MMQ=60,21;MPOS=116;POPAF=7.3;TLOD=4.85 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr2 130231176 . C G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|3,5;DP=10;ECNT=6;GERMQ=59;MBQ=0,32;MFRL=0,0;MMQ=60,33;MPOS=6;POPAF=7.3;TLOD=26.98 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.864:8:0,2:0,3:0,5:0,0,3,5 -chr2 130231189 . T G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|5,7;DP=13;ECNT=6;GERMQ=70;MBQ=0,32;MFRL=0,0;MMQ=60,37;MPOS=15;POPAF=7.3;TLOD=41.57 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,12:0.893:12:0,2:0,5:0,7:0,0,5,7 -chr2 130231202 . C A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|6,10;DP=16;ECNT=6;GERMQ=82;MBQ=0,32;MFRL=0,0;MMQ=60,37;MPOS=26;POPAF=7.3;TLOD=56.65 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,16:0.917:16:0,4:0,6:0,10:0,0,6,10 -chr2 130231206 . C T . clustered_events;map_qual;strand_bias;weak_evidence AS_FilterStatus=weak_evidence,map_qual,strand_bias;AS_SB_TABLE=5,8|1,2;DP=16;ECNT=6;GERMQ=34;MBQ=33,31;MFRL=0,0;MMQ=40,29;MPOS=31;POPAF=7.3;TLOD=7.54 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:13,3:0.25:16:3,1:4,1:8,2:5,8,1,2 -chr2 130231240 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|6,10;DP=16;ECNT=6;GERMQ=82;MBQ=0,33;MFRL=0,0;MMQ=60,37;MPOS=64;POPAF=7.3;TLOD=54.65 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,16:0.917:16:0,4:0,6:0,10:0,0,6,10 -chr2 130231320 . G A . clustered_events;strand_bias;weak_evidence AS_FilterStatus=weak_evidence,strand_bias;AS_SB_TABLE=0,0|1,3;DP=7;ECNT=6;GERMQ=47;MBQ=0,32;MFRL=0,0;MMQ=60,40;MPOS=125;POPAF=7.3;TLOD=11.62 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.819:4:0,2:0,1:0,3:0,0,1,3 -chr2 131442793 . T C . clustered_events;haplotype;strand_bias AS_FilterStatus=strand_bias;AS_SB_TABLE=0,0|1,2;DP=3;ECNT=6;GERMQ=44;MBQ=0,34;MFRL=0,0;MMQ=60,49;MPOS=78;POPAF=7.3;TLOD=13.02 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.75:3:0,1:0,1:0,2:0|1:131442793_T_C:131442793:0,0,1,2 -chr2 131442797 . C G . clustered_events;haplotype;strand_bias AS_FilterStatus=strand_bias;AS_SB_TABLE=0,0|1,2;DP=3;ECNT=6;GERMQ=44;MBQ=0,34;MFRL=0,0;MMQ=60,49;MPOS=74;POPAF=7.3;TLOD=13.02 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.75:3:0,1:0,1:0,2:0|1:131442793_T_C:131442793:0,0,1,2 -chr2 131442810 . C T . clustered_events;haplotype;strand_bias AS_FilterStatus=strand_bias;AS_SB_TABLE=0,0|1,2;DP=3;ECNT=6;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,49;MPOS=61;POPAF=7.3;TLOD=13.02 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.75:3:0,1:0,1:0,2:0|1:131442793_T_C:131442793:0,0,1,2 -chr2 131442829 . C T . clustered_events;haplotype;strand_bias AS_FilterStatus=strand_bias;AS_SB_TABLE=0,0|1,2;DP=3;ECNT=6;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,49;MPOS=42;POPAF=7.3;TLOD=13.02 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.75:3:0,1:0,1:0,2:0|1:131442793_T_C:131442793:0,0,1,2 -chr2 131442842 . T C . clustered_events;haplotype;strand_bias AS_FilterStatus=strand_bias;AS_SB_TABLE=0,0|1,2;DP=3;ECNT=6;GERMQ=44;MBQ=0,34;MFRL=0,0;MMQ=60,49;MPOS=29;POPAF=7.3;TLOD=13.02 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.75:3:0,1:0,1:0,2:0|1:131442793_T_C:131442793:0,0,1,2 -chr2 131442846 . A G . clustered_events;haplotype;strand_bias AS_FilterStatus=strand_bias;AS_SB_TABLE=0,0|1,2;DP=3;ECNT=6;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,49;MPOS=25;POPAF=7.3;TLOD=13.02 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.75:3:0,1:0,1:0,2:0|1:131442793_T_C:131442793:0,0,1,2 -chr2 131443009 . A G . clustered_events;map_qual;strand_bias;weak_evidence AS_FilterStatus=weak_evidence,map_qual,strand_bias;AS_SB_TABLE=0,0|3,1;DP=5;ECNT=9;GERMQ=47;MBQ=0,32;MFRL=0,0;MMQ=60,28;MPOS=125;POPAF=7.3;TLOD=12.41 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.833:4:0,1:0,3:0,4:0,0,3,1 -chr2 131443024 . A G . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0,0|3,3;DP=9;ECNT=9;GERMQ=53;MBQ=0,34;MFRL=0,0;MMQ=60,28;MPOS=110;POPAF=7.3;TLOD=19.15 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.864:6:0,2:0,3:0,5:0,0,3,3 -chr2 131443048 . G A . clustered_events;strand_bias;weak_evidence AS_FilterStatus=weak_evidence,strand_bias;AS_SB_TABLE=2,5|1,1;DP=9;ECNT=9;GERMQ=27;MBQ=33,33;MFRL=0,0;MMQ=29,38;MPOS=106;POPAF=7.3;TLOD=5.33 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,2:0.25:9:3,0:2,1:5,1:2,5,1,1 -chr2 131443052 . G T . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0,0|3,6;DP=9;ECNT=9;GERMQ=62;MBQ=0,33;MFRL=0,0;MMQ=60,29;MPOS=105;POPAF=7.3;TLOD=32.74 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,9:0.875:9:0,3:0,3:0,6:0,0,3,6 -chr2 131443065 . A C . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0,0|3,6;DP=9;ECNT=9;GERMQ=62;MBQ=0,32;MFRL=0,0;MMQ=60,29;MPOS=92;POPAF=7.3;TLOD=30.67 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,9:0.875:9:0,3:0,3:0,6:0,0,3,6 -chr2 131443078 . G C . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0,0|3,6;DP=9;ECNT=9;GERMQ=62;MBQ=0,35;MFRL=0,0;MMQ=60,29;MPOS=79;POPAF=7.3;TLOD=31.1 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,9:0.875:9:0,3:0,3:0,6:0,0,3,6 -chr2 131443100 . G C . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0,0|3,6;DP=9;ECNT=9;GERMQ=62;MBQ=0,34;MFRL=0,0;MMQ=60,29;MPOS=57;POPAF=7.3;TLOD=31.07 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,9:0.875:9:0,3:0,3:0,6:0,0,3,6 -chr2 131443144 . G A . clustered_events;haplotype;strand_bias AS_FilterStatus=strand_bias;AS_SB_TABLE=0,0|0,5;DP=5;ECNT=9;GERMQ=50;MBQ=0,32;MFRL=0,0;MMQ=60,32;MPOS=28;POPAF=7.3;TLOD=21.72 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,5:0.857:5:0,2:0,0:0,5:0|1:131443144_G_A:131443144:0,0,0,5 -chr2 131443146 . T G . clustered_events;haplotype;strand_bias AS_FilterStatus=strand_bias;AS_SB_TABLE=0,0|0,5;DP=5;ECNT=9;GERMQ=50;MBQ=0,35;MFRL=0,0;MMQ=60,32;MPOS=26;POPAF=7.3;TLOD=21.72 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,5:0.857:5:0,2:0,0:0,5:0|1:131443144_G_A:131443144:0,0,0,5 -chr2 131443797 . C G . clustered_events;haplotype;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=4;GERMQ=41;MBQ=0,33;MFRL=0,0;MMQ=60,47;MPOS=132;POPAF=7.3;TLOD=8.7 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,2:0.667:2:0,0:0,1:0,1:0|1:131443797_C_G:131443797:0,0,1,1 -chr2 131443801 . G A . clustered_events;haplotype;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=4;GERMQ=41;MBQ=0,33;MFRL=0,0;MMQ=60,47;MPOS=128;POPAF=7.3;TLOD=8.7 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,2:0.667:2:0,0:0,1:0,1:0|1:131443797_C_G:131443797:0,0,1,1 -chr2 131443807 . G A . clustered_events;haplotype;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=0,0|0,0;DP=4;ECNT=4;GERMQ=41;MBQ=0,33;MFRL=0,0;MMQ=60,47;MPOS=122;POPAF=7.3;TLOD=8.63 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,2:0.684:2:0,0:0,1:0,1:0|1:131443797_C_G:131443797:0,0,1,1 -chr2 131443869 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|4,3;DP=7;ECNT=4;GERMQ=56;MBQ=0,32;MFRL=0,0;MMQ=60,47;MPOS=60;POPAF=7.3;TLOD=21.83 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,7:0.833:7:0,0:0,4:0,4:0,0,4,3 -chr2 131443961 . G A . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0,0|9,6;DP=15;ECNT=4;GERMQ=79;MBQ=0,33;MFRL=0,0;MMQ=60,34;MPOS=76;POPAF=7.3;TLOD=66.5 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,15:0.909:15:0,0:0,9:0,9:0|1:131443961_G_A:131443961:0,0,9,6 -chr2 131443973 . T A . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0,0|9,6;DP=15;ECNT=4;GERMQ=79;MBQ=0,33;MFRL=0,0;MMQ=60,34;MPOS=64;POPAF=7.3;TLOD=66.5 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,15:0.909:15:0,0:0,9:0,9:0|1:131443961_G_A:131443961:0,0,9,6 -chr2 131444000 . A G . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0,0|7,5;DP=12;ECNT=4;GERMQ=70;MBQ=0,34;MFRL=0,0;MMQ=60,38;MPOS=51;POPAF=7.3;TLOD=53.1 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,12:0.889:12:0,0:0,7:0,7:0|1:131444000_A_G:131444000:0,0,7,5 -chr2 131444009 . A G . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0,0|7,5;DP=12;ECNT=4;GERMQ=70;MBQ=0,34;MFRL=0,0;MMQ=60,38;MPOS=42;POPAF=7.3;TLOD=53.1 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,12:0.889:12:0,0:0,6:0,7:0|1:131444000_A_G:131444000:0,0,7,5 -chr1 190768 . G A . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,22;MPOS=92;POPAF=7.3;TLOD=5.05 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 733895 . G T . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,21;MFRL=0,0;MMQ=60,25;MPOS=37;POPAF=7.3;TLOD=3.63 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 778051 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=1,2|1,1;DP=5;ECNT=3;GERMQ=38;MBQ=31,33;MFRL=0,0;MMQ=60,56;MPOS=55;POPAF=7.3;TLOD=6.38 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,2:0.4:5:0,0:1,1:2,1:1,2,1,1 -chr1 778906 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1,1|2,1;DP=5;ECNT=2;GERMQ=37;MBQ=35,32;MFRL=0,0;MMQ=38,32;MPOS=45;POPAF=7.3;TLOD=9.25 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,3:0.6:5:0,0:1,2:1,2:1,1,2,1 -chr1 778984 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1,0|1,1;DP=3;ECNT=2;GERMQ=38;MBQ=35,32;MFRL=0,0;MMQ=30,32;MPOS=123;POPAF=7.3;TLOD=6.37 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,2:0.5:3:0,0:1,1:1,1:1,0,1,1 -chr1 779196 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4,5|1,1;DP=11;ECNT=1;GERMQ=47;MBQ=33,33;MFRL=0,0;MMQ=53,60;MPOS=59;POPAF=7.3;TLOD=5.83 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:9,2:0.25:11:1,0:3,1:5,1:4,5,1,1 -chr1 779968 . T G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|5,6;DP=13;ECNT=1;GERMQ=72;MBQ=0,34;MFRL=0,0;MMQ=60,50;MPOS=65;POPAF=7.3;TLOD=39.07 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,11:0.88:11:0,1:0,5:0,6:0,0,5,6 -chr1 780634 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=1;ECNT=1;GERMQ=44;MBQ=0,29;MFRL=0,0;MMQ=60,32;MPOS=16;POPAF=7.3;TLOD=3.08 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 781047 . C T . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=2,2|1,1;DP=6;ECNT=1;GERMQ=39;MBQ=34,34;MFRL=0,0;MMQ=22,24;MPOS=82;POPAF=7.3;TLOD=4.67 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,2:0.4:6:0,0:2,1:2,1:2,2,1,1 -chr1 783175 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|2,1;DP=3;ECNT=1;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,32;MPOS=13;POPAF=7.3;TLOD=10.65 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,0:0,2:0,2:0,0,2,1 -chr1 794299 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,34;MPOS=52;POPAF=7.3;TLOD=7.35 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 797585 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=2;GERMQ=46;MBQ=0,32;MFRL=0,0;MMQ=60,31;MPOS=21;POPAF=7.3;TLOD=6.85 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 797609 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=1;ECNT=2;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,31;MPOS=7;POPAF=7.3;TLOD=3.28 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,0:0,1:0,0,0,1 -chr1 817186 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|6,5;DP=12;ECNT=4;GERMQ=72;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=45;POPAF=7.3;TLOD=33.35 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,11:0.889:11:0,1:0,5:0,7:0,0,6,5 -chr1 817257 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=3,1|2,4;DP=10;ECNT=4;GERMQ=35;MBQ=31,34;MFRL=0,0;MMQ=45,60;MPOS=77;POPAF=7.3;TLOD=20.61 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,6:0.556:10:0,0:3,2:3,4:3,1,2,4 -chr1 818094 . C G . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0,0|2,1;DP=3;ECNT=1;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,28;MPOS=26;POPAF=7.3;TLOD=9.35 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,0:0,2:0,2:0,0,2,1 -chr1 818802 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|4,2;DP=6;ECNT=2;GERMQ=58;MBQ=0,32;MFRL=0,0;MMQ=60,41;MPOS=94;POPAF=7.3;TLOD=26.3 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,6:0.833:6:0,0:0,4:0,4:0|1:818802_A_G:818802:0,0,4,2 -chr1 818812 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|4,2;DP=6;ECNT=2;GERMQ=58;MBQ=0,32;MFRL=0,0;MMQ=60,41;MPOS=85;POPAF=7.3;TLOD=26.3 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,6:0.833:6:0,0:0,4:0,4:0|1:818802_A_G:818802:0,0,4,2 -chr1 818954 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|1,2;DP=3;ECNT=1;GERMQ=49;MBQ=0,32;MFRL=0,0;MMQ=60,41;MPOS=53;POPAF=7.3;TLOD=10.35 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.8:3:0,2:0,1:0,3:0,0,1,2 -chr1 819123 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|3,3;DP=6;ECNT=1;GERMQ=58;MBQ=0,33;MFRL=0,0;MMQ=60,54;MPOS=85;POPAF=7.3;TLOD=21.26 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.833:6:0,1:0,3:0,4:0,0,3,3 -chr1 819584 . C T . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,32;MFRL=0,0;MMQ=60,21;MPOS=29;POPAF=7.3;TLOD=4.85 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 820395 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=111;POPAF=7.3;TLOD=7.35 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 821000 . T A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=1;ECNT=1;GERMQ=44;MBQ=0,29;MFRL=0,0;MMQ=60,60;MPOS=83;POPAF=7.3;TLOD=3.08 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 822354 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,28;MFRL=0,0;MMQ=60,60;MPOS=101;POPAF=7.3;TLOD=6.25 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 822764 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=122;POPAF=7.3;TLOD=7.15 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 822944 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=107;POPAF=7.3;TLOD=7.45 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 823246 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=102;POPAF=7.3;TLOD=7.02 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 825767 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|2,2;DP=4;ECNT=1;GERMQ=52;MBQ=0,34;MFRL=0,0;MMQ=60,45;MPOS=126;POPAF=7.3;TLOD=14.63 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 826352 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=1;ECNT=1;GERMQ=44;MBQ=0,31;MFRL=0,0;MMQ=60,44;MPOS=11;POPAF=7.3;TLOD=3.28 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 837375 . A C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,38;MPOS=93;POPAF=7.3;TLOD=7.25 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 838563 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=1;ECNT=1;GERMQ=44;MBQ=0,29;MFRL=0,0;MMQ=60,50;MPOS=78;POPAF=7.3;TLOD=3.08 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,0:0,1:0,0,0,1 -chr1 839356 . A C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,31;MFRL=0,0;MMQ=60,37;MPOS=121;POPAF=7.3;TLOD=6.68 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.75:2:0,2:0,0:0,2:0,0,0,2 -chr1 841462 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=19,19|1,1;DP=40;ECNT=1;GERMQ=93;MBQ=33,31;MFRL=0,0;MMQ=54,35;MPOS=38;POPAF=7.3;TLOD=4.35 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:38,2:0.083:40:2,0:19,1:21,1:19,19,1,1 -chr1 841742 . A T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|10,12;DP=26;ECNT=1;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,31;MPOS=70;POPAF=7.3;TLOD=72.93 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,22:0.93:22:0,0:0,10:0,12:0,0,10,12 -chr1 842714 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=18,13|1,1;DP=35;ECNT=1;GERMQ=93;MBQ=33,30;MFRL=0,0;MMQ=60,60;MPOS=51;POPAF=7.3;TLOD=4.29 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:31,2:0.09:33:1,0:18,1:19,1:18,13,1,1 -chr1 843189 . A G . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0,0|11,13;DP=25;ECNT=1;GERMQ=93;MBQ=0,32;MFRL=0,0;MMQ=60,25;MPOS=95;POPAF=7.3;TLOD=73.31 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,24:0.941:24:0,4:0,11:0,15:0,0,11,13 -chr1 844097 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=12,9|1,1;DP=26;ECNT=1;GERMQ=74;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=47;POPAF=7.3;TLOD=5.37 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:21,2:0.13:23:0,0:12,1:12,1:12,9,1,1 -chr1 844647 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|5,3;DP=8;ECNT=1;GERMQ=63;MBQ=0,33;MFRL=0,0;MMQ=60,48;MPOS=31;POPAF=7.3;TLOD=29.04 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.857:8:0,0:0,5:0,5:0,0,5,3 -chr1 845405 . T A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|4,4;DP=8;ECNT=1;GERMQ=63;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=109;POPAF=7.3;TLOD=28.22 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.833:8:0,0:0,4:0,4:0,0,4,4 -chr1 846240 . A G . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=2,4|1,1;DP=8;ECNT=1;GERMQ=42;MBQ=32,31;MFRL=0,0;MMQ=22,21;MPOS=138;POPAF=7.3;TLOD=3.67 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,2:0.286:8:2,0:2,1:4,1:2,4,1,1 -chr1 849670 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|3,2;DP=5;ECNT=1;GERMQ=55;MBQ=0,33;MFRL=0,0;MMQ=60,44;MPOS=63;POPAF=7.3;TLOD=17.55 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.8:5:0,0:0,3:0,3:0,0,3,2 -chr1 850142 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=1;ECNT=1;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=25;POPAF=7.3;TLOD=3.48 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 851882 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|2,2;DP=4;ECNT=1;GERMQ=52;MBQ=0,32;MFRL=0,0;MMQ=60,44;MPOS=26;POPAF=7.3;TLOD=13.4 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 852019 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1,1|12,9;DP=24;ECNT=1;GERMQ=71;MBQ=31,33;MFRL=0,0;MMQ=60,44;MPOS=83;POPAF=7.3;TLOD=73.51 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,21:0.896:23:0,4:1,12:1,16:1,1,12,9 -chr1 852305 . G T . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,32;MFRL=0,0;MMQ=60,21;MPOS=66;POPAF=7.3;TLOD=4.85 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 853565 . G C . haplotype;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0,0|0,0;DP=3;ECNT=2;GERMQ=46;MBQ=0,32;MFRL=0,0;MMQ=60,25;MPOS=128;POPAF=7.3;TLOD=8.47 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,2:0.764:2:0,0:0,1:0,2:0|1:853565_G_C:853565:0,0,1,1 -chr1 853572 . G A . haplotype;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=2;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,25;MPOS=135;POPAF=7.3;TLOD=8.52 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,2:0.75:2:0,0:0,1:0,2:0|1:853565_G_C:853565:0,0,1,1 -chr1 855801 . A G . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=4,10|1,1;DP=20;ECNT=1;GERMQ=57;MBQ=32,33;MFRL=0,0;MMQ=32,24;MPOS=104;POPAF=7.3;TLOD=3.54 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:14,2:0.141:16:4,0:4,1:11,1:4,10,1,1 -chr1 856029 . T C . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=9,5|1,1;DP=16;ECNT=1;GERMQ=57;MBQ=32,31;MFRL=0,0;MMQ=22,22;MPOS=130;POPAF=7.3;TLOD=3.31 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:14,2:0.167:16:0,0:9,1:9,1:9,5,1,1 -chr1 856666 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=19,15|1,1;DP=36;ECNT=3;GERMQ=93;MBQ=33,33;MFRL=0,0;MMQ=40,48;MPOS=26;POPAF=7.3;TLOD=4.89 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:34,2:0.087:36:0,0:18,1:20,1:19,15,1,1 -chr1 856691 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=20,15|1,1;DP=37;ECNT=3;GERMQ=93;MBQ=33,33;MFRL=0,0;MMQ=43,52;MPOS=79;POPAF=7.3;TLOD=4.81 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:35,2:0.08:37:0,0:20,1:22,1:20,15,1,1 -chr1 856716 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=18,13|1,1;DP=34;ECNT=3;GERMQ=93;MBQ=33,34;MFRL=0,0;MMQ=46,54;MPOS=89;POPAF=7.3;TLOD=5.01 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:31,2:0.08:33:0,0:18,1:22,1:18,13,1,1 -chr1 856883 . A G . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0,0|4,5;DP=11;ECNT=1;GERMQ=66;MBQ=0,35;MFRL=0,0;MMQ=60,21;MPOS=102;POPAF=7.3;TLOD=22.37 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,9:0.906:9:0,4:0,4:0,8:0,0,4,5 -chr1 857100 . C T . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0,0|9,7;DP=16;ECNT=1;GERMQ=87;MBQ=0,32;MFRL=0,0;MMQ=60,21;MPOS=69;POPAF=7.3;TLOD=40.02 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,16:0.917:16:0,1:0,8:0,10:0,0,9,7 -chr1 857234 . T C . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=7,10|1,1;DP=19;ECNT=1;GERMQ=64;MBQ=33,34;MFRL=0,0;MMQ=24,23;MPOS=40;POPAF=7.3;TLOD=3.43 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:17,2:0.154:19:3,0:7,1:10,1:7,10,1,1 -chr1 859348 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1,2|1,1;DP=5;ECNT=1;GERMQ=38;MBQ=33,24;MFRL=0,0;MMQ=43,36;MPOS=113;POPAF=7.3;TLOD=3.75 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,2:0.4:5:1,0:1,0:2,1:1,2,1,1 -chr1 897018 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,35;MFRL=0,0;MMQ=60,45;MPOS=106;POPAF=7.3;TLOD=7.05 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 901763 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1,1|1,1;DP=4;ECNT=1;GERMQ=37;MBQ=34,34;MFRL=0,0;MMQ=60,60;MPOS=43;POPAF=7.3;TLOD=6.88 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.5:4:0,0:1,1:1,1:1,1,1,1 -chr1 902641 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=73;POPAF=7.3;TLOD=7.02 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 903007 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=2;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=51;POPAF=7.3;TLOD=7.45 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 904947 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3,2|2,2;DP=9;ECNT=1;GERMQ=37;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=116;POPAF=7.3;TLOD=13.03 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:5,4:0.429:9:0,0:3,2:3,2:3,2,2,2 -chr1 905705 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3,4|2,3;DP=13;ECNT=1;GERMQ=37;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=89;POPAF=7.3;TLOD=16.64 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,5:0.444:12:1,0:3,2:4,3:3,4,2,3 -chr1 906535 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=11,11|1,1;DP=24;ECNT=2;GERMQ=76;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=125;POPAF=7.3;TLOD=5.14 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:22,2:0.126:24:1,0:10,1:13,1:11,11,1,1 -chr1 906633 . T G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3,3|2,2;DP=12;ECNT=2;GERMQ=37;MBQ=31,34;MFRL=0,0;MMQ=60,60;MPOS=78;POPAF=7.3;TLOD=12.47 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,4:0.427:10:0,0:3,2:3,2:3,3,2,2 -chr1 906982 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|8,8;DP=17;ECNT=2;GERMQ=87;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=40;POPAF=7.3;TLOD=64.21 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,16:0.909:16:0,0:0,8:0,9:0|1:906982_C_T:906982:0,0,8,8 -chr1 907022 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3,4|5,4;DP=16;ECNT=2;GERMQ=35;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=89;POPAF=7.3;TLOD=29.02 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:7,9:0.583:16:0,0:3,5:4,6:0|1:906982_C_T:906982:3,4,5,4 -chr1 907445 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=91;POPAF=7.3;TLOD=7.35 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 908025 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2,2|3,2;DP=9;ECNT=1;GERMQ=36;MBQ=31,32;MFRL=0,0;MMQ=60,60;MPOS=64;POPAF=7.3;TLOD=16.71 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,5:0.571:9:0,0:2,3:2,3:2,2,3,2 -chr1 908285 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2,5|1,1;DP=9;ECNT=1;GERMQ=43;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=24;POPAF=7.3;TLOD=5.7 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,2:0.25:9:2,0:2,1:5,1:2,5,1,1 -chr1 909894 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1,1|2,2;DP=6;ECNT=2;GERMQ=36;MBQ=34,31;MFRL=0,0;MMQ=60,60;MPOS=83;POPAF=7.3;TLOD=13.23 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:2,4:0.6:6:0,0:1,2:1,2:0|1:909894_G_T:909894:1,1,2,2 -chr1 909903 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|3,3;DP=6;ECNT=2;GERMQ=58;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=88;POPAF=7.3;TLOD=24.95 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,6:0.8:6:0,0:0,3:0,3:0|1:909894_G_T:909894:0,0,3,3 -chr1 910255 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1,1|3,2;DP=7;ECNT=1;GERMQ=37;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=20;POPAF=7.3;TLOD=16.78 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,5:0.667:7:0,0:1,3:1,3:1,1,3,2 -chr1 910462 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4,5|1,1;DP=12;ECNT=1;GERMQ=47;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=128;POPAF=7.3;TLOD=5.71 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:9,2:0.222:11:1,0:4,1:6,1:4,5,1,1 -chr1 910558 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=6,5|3,3;DP=17;ECNT=1;GERMQ=39;MBQ=35,33;MFRL=0,0;MMQ=60,60;MPOS=60;POPAF=7.3;TLOD=16.9 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:11,6:0.498:17:0,1:5,3:5,5:6,5,3,3 -chr1 910698 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2,2|1,2;DP=7;ECNT=1;GERMQ=37;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=93;POPAF=7.3;TLOD=9.55 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,3:0.571:7:0,1:2,1:2,3:2,2,1,2 -chr1 910958 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|7,4;DP=11;ECNT=5;GERMQ=72;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=58;POPAF=7.3;TLOD=42.05 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,11:0.889:11:0,0:0,7:0,7:0,0,7,4 -chr1 911018 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=4,3|6,5;DP=18;ECNT=5;GERMQ=35;MBQ=35,31;MFRL=0,0;MMQ=60,60;MPOS=24;POPAF=7.3;TLOD=33.25 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,11:0.583:18:1,0:3,6:4,6:4,3,6,5 -chr1 911033 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=9,8|1,1;DP=19;ECNT=5;GERMQ=64;MBQ=34,32;MFRL=0,0;MMQ=60,60;MPOS=140;POPAF=7.3;TLOD=5.31 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:17,2:0.167:19:1,0:8,1:9,1:9,8,1,1 -chr1 911109 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|8,10;DP=19;ECNT=5;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=90;POPAF=7.3;TLOD=66.49 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,18:0.925:18:0,1:0,7:0,11:0,0,8,10 -chr1 911219 . T G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5,5|1,1;DP=12;ECNT=2;GERMQ=49;MBQ=33,30;MFRL=0,0;MMQ=60,60;MPOS=25;POPAF=7.3;TLOD=5.33 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:10,2:0.25:12:0,0:5,1:5,1:0|1:911219_T_G:911219:5,5,1,1 -chr1 911848 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4,4|1,1;DP=10;ECNT=2;GERMQ=45;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=38;POPAF=7.3;TLOD=6.18 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:8,2:0.286:10:0,0:4,1:4,1:4,4,1,1 -chr1 911870 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|7,7;DP=14;ECNT=2;GERMQ=81;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=63;POPAF=7.3;TLOD=50.17 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,14:0.889:14:0,0:0,7:0,7:0,0,7,7 -chr1 912111 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2,2|1,1;DP=7;ECNT=1;GERMQ=39;MBQ=34,32;MFRL=0,0;MMQ=60,60;MPOS=9;POPAF=7.3;TLOD=6.23 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,2:0.396:6:0,0:2,1:2,1:2,2,1,1 -chr1 912710 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1,1|1,2;DP=6;ECNT=1;GERMQ=37;MBQ=32,34;MFRL=0,0;MMQ=60,60;MPOS=4;POPAF=7.3;TLOD=10.25 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,3:0.6:5:0,0:1,1:1,2:1,1,1,2 -chr1 913065 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=3,3|2,3;DP=11;ECNT=3;GERMQ=36;MBQ=32,31;MFRL=0,0;MMQ=60,60;MPOS=23;POPAF=7.3;TLOD=13.01 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,5:0.444:11:2,1:2,2:4,3:3,3,2,3 -chr1 913076 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=3,3|3,4;DP=13;ECNT=3;GERMQ=35;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=31;POPAF=7.3;TLOD=23.19 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,7:0.556:13:1,1:2,3:3,4:3,3,3,4 -chr1 913086 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=5,6|1,1;DP=13;ECNT=3;GERMQ=51;MBQ=35,32;MFRL=0,0;MMQ=60,60;MPOS=34;POPAF=7.3;TLOD=5.51 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:11,2:0.222:13:1,1:5,0:6,1:5,6,1,1 -chr1 913337 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=6,7|1,1;DP=16;ECNT=3;GERMQ=55;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=78;POPAF=7.3;TLOD=5.47 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:13,2:0.197:15:0,0:6,1:7,1:6,7,1,1 -chr1 913358 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=4,3|3,3;DP=14;ECNT=3;GERMQ=36;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=70;POPAF=7.3;TLOD=19.36 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,6:0.4:13:0,0:4,3:5,3:4,3,3,3 -chr1 914618 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|4,5;DP=10;ECNT=1;GERMQ=66;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=96;POPAF=7.3;TLOD=33.21 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,9:0.857:9:0,1:0,3:0,5:0,0,4,5 -chr1 914991 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=1;ECNT=1;GERMQ=44;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=19;POPAF=7.3;TLOD=3.38 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 915810 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3,3|6,4;DP=16;ECNT=2;GERMQ=35;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=78;POPAF=7.3;TLOD=48.47 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:6,10:0.636:16:0,0:3,6:3,6:0|1:915810_G_A:915810:3,3,6,4 -chr1 915824 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3,3|7,7;DP=20;ECNT=2;GERMQ=39;MBQ=35,35;MFRL=0,0;MMQ=60,60;MPOS=82;POPAF=7.3;TLOD=55.04 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:6,14:0.667:20:0,0:3,7:3,7:0|1:915810_G_A:915810:3,3,7,7 -chr1 916119 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|4,1;DP=5;ECNT=1;GERMQ=55;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=32;POPAF=7.3;TLOD=17.69 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.833:5:0,0:0,4:0,4:0,0,4,1 -chr1 916254 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=6,8|1,1;DP=16;ECNT=1;GERMQ=57;MBQ=33,31;MFRL=0,0;MMQ=60,60;MPOS=131;POPAF=7.3;TLOD=5.2 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:14,2:0.182:16:2,0:6,1:8,1:6,8,1,1 -chr1 916377 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|2,2;DP=4;ECNT=1;GERMQ=52;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=28;POPAF=7.3;TLOD=14.71 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.8:4:0,1:0,2:0,3:0,0,2,2 -chr1 916657 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=2,2|6,7;DP=18;ECNT=3;GERMQ=42;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=87;POPAF=7.3;TLOD=45.17 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,13:0.692:17:1,1:2,6:3,8:2,2,6,7 -chr1 916683 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=3,3|4,5;DP=16;ECNT=3;GERMQ=35;MBQ=32,32;MFRL=0,0;MMQ=60,60;MPOS=90;POPAF=7.3;TLOD=30.17 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,9:0.546:15:1,1:3,4:4,5:3,3,4,5 -chr1 916753 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|5,7;DP=12;ECNT=3;GERMQ=75;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=78;POPAF=7.3;TLOD=43.87 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,12:0.9:12:0,1:0,5:0,8:0,0,5,7 -chr1 917166 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=11,8|1,1;DP=21;ECNT=1;GERMQ=69;MBQ=34,31;MFRL=0,0;MMQ=60,60;MPOS=122;POPAF=7.3;TLOD=4.86 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:19,2:0.143:21:0,0:11,1:11,1:11,8,1,1 -chr1 917284 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3,3|2,3;DP=11;ECNT=2;GERMQ=36;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=65;POPAF=7.3;TLOD=15.64 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,5:0.444:11:1,1:3,2:4,3:3,3,2,3 -chr1 917378 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=8,6|4,1;DP=19;ECNT=2;GERMQ=45;MBQ=34,35;MFRL=0,0;MMQ=60,60;MPOS=73;POPAF=7.3;TLOD=15.48 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:14,5:0.333:19:1,0:8,4:9,4:8,6,4,1 -chr1 917495 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4,4|7,8;DP=23;ECNT=1;GERMQ=37;MBQ=34,32;MFRL=0,0;MMQ=60,60;MPOS=26;POPAF=7.3;TLOD=45.76 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:8,15:0.6:23:1,1:4,6:5,8:4,4,7,8 -chr1 917584 . T G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|8,5;DP=13;ECNT=1;GERMQ=78;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=97;POPAF=7.3;TLOD=47.3 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,13:0.909:13:0,1:0,8:0,9:0,0,8,5 -chr1 917859 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3,4|3,3;DP=13;ECNT=1;GERMQ=36;MBQ=32,31;MFRL=0,0;MMQ=60,60;MPOS=68;POPAF=7.3;TLOD=15.85 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,6:0.4:13:2,0:3,3:5,3:3,4,3,3 -chr1 918443 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2,0|2,2;DP=7;ECNT=1;GERMQ=36;MBQ=31,33;MFRL=0,0;MMQ=60,60;MPOS=96;POPAF=7.3;TLOD=13.13 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,4:0.571:6:0,0:2,2:2,3:2,0,2,2 -chr1 918574 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1,2|2,3;DP=8;ECNT=1;GERMQ=36;MBQ=35,32;MFRL=0,0;MMQ=60,60;MPOS=20;POPAF=7.3;TLOD=16.2 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,5:0.571:8:1,1:1,2:2,3:1,2,2,3 -chr1 918870 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2,2|2,2;DP=8;ECNT=2;GERMQ=36;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=80;POPAF=7.3;TLOD=13.53 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:4,4:0.429:8:0,0:2,2:3,2:0|1:918870_A_G:918870:2,2,2,2 -chr1 918888 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3,2|1,1;DP=9;ECNT=2;GERMQ=40;MBQ=32,32;MFRL=0,0;MMQ=60,60;MPOS=81;POPAF=7.3;TLOD=5.92 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 1|0:5,2:0.329:7:0,0:3,1:3,1:1|0:918870_A_G:918870:3,2,1,1 -chr1 919297 . A T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3,4|1,1;DP=9;ECNT=1;GERMQ=43;MBQ=32,31;MFRL=0,0;MMQ=60,60;MPOS=113;POPAF=7.3;TLOD=5.87 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,2:0.286:9:0,0:3,1:4,1:3,4,1,1 -chr1 919397 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1,1|6,6;DP=14;ECNT=1;GERMQ=48;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=75;POPAF=7.3;TLOD=43.57 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,12:0.778:14:0,0:1,6:1,6:1,1,6,6 -chr1 919598 . A C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5,6|4,4;DP=19;ECNT=1;GERMQ=36;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=52;POPAF=7.3;TLOD=26.45 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:11,8:0.417:19:1,0:5,4:6,4:5,6,4,4 -chr1 919695 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1,3|1,2;DP=8;ECNT=1;GERMQ=37;MBQ=35,34;MFRL=0,0;MMQ=60,60;MPOS=84;POPAF=7.3;TLOD=9.51 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,3:0.429:7:1,1:1,1:3,2:1,3,1,2 -chr1 920331 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=11,8|1,1;DP=22;ECNT=1;GERMQ=69;MBQ=35,30;MFRL=0,0;MMQ=60,60;MPOS=59;POPAF=7.3;TLOD=4.75 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:19,2:0.141:21:0,0:11,1:11,1:11,8,1,1 -chr1 920719 . T G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5,6|3,4;DP=18;ECNT=2;GERMQ=37;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=55;POPAF=7.3;TLOD=28.14 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:11,7:0.417:18:1,1:5,3:6,4:0|1:920719_T_G:920719:5,6,3,4 -chr1 920728 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5,6|3,4;DP=18;ECNT=2;GERMQ=37;MBQ=32,32;MFRL=0,0;MMQ=60,60;MPOS=61;POPAF=7.3;TLOD=28.14 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:11,7:0.417:18:1,1:5,3:6,4:0|1:920719_T_G:920719:5,6,3,4 -chr1 921096 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2,2|2,1;DP=7;ECNT=2;GERMQ=37;MBQ=31,31;MFRL=0,0;MMQ=60,60;MPOS=58;POPAF=7.3;TLOD=7 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,3:0.5:7:0,0:2,2:2,2:2,2,2,1 -chr1 922226 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3,2|1,1;DP=7;ECNT=1;GERMQ=40;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=80;POPAF=7.3;TLOD=6.25 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:5,2:0.333:7:0,0:3,1:3,1:3,2,1,1 -chr1 922348 . T G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1,0|5,5;DP=11;ECNT=1;GERMQ=53;MBQ=31,34;MFRL=0,0;MMQ=60,60;MPOS=76;POPAF=7.3;TLOD=37.44 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,10:0.778:11:0,1:1,5:1,6:1,0,5,5 -chr1 922660 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|2,1;DP=3;ECNT=2;GERMQ=49;MBQ=0,29;MFRL=0,0;MMQ=60,60;MPOS=57;POPAF=7.3;TLOD=10.15 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,0:0,2:0,2:0,0,2,1 -chr1 922671 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|2,1;DP=3;ECNT=2;GERMQ=49;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=46;POPAF=7.3;TLOD=10.65 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,0:0,2:0,2:0,0,2,1 -chr1 923421 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=1;ECNT=1;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=41;POPAF=7.3;TLOD=3.48 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 924024 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|4,3;DP=7;ECNT=1;GERMQ=60;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=90;POPAF=7.3;TLOD=25.34 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,7:0.833:7:0,0:0,4:0,4:0,0,4,3 -chr1 924305 . G A . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=3,2|1,2;DP=10;ECNT=4;GERMQ=38;MBQ=35,32;MFRL=0,0;MMQ=60,60;MPOS=112;POPAF=7.3;TLOD=11.69 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:5,3:0.427:8:0,1:3,1:3,2:0|1:924305_G_A:924305:3,2,1,2 -chr1 924310 . C G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|4,5;DP=9;ECNT=4;GERMQ=66;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=60;POPAF=7.3;TLOD=35.98 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,9:0.857:9:0,1:0,4:0,5:0,0,4,5 -chr1 924314 . C A . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=3,3|1,2;DP=12;ECNT=4;GERMQ=39;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=121;POPAF=7.3;TLOD=11.66 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:6,3:0.426:9:0,1:3,1:3,2:0|1:924305_G_A:924305:3,3,1,2 -chr1 924321 . C G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|8,7;DP=15;ECNT=4;GERMQ=84;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=12;POPAF=7.3;TLOD=58.21 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,15:0.909:15:0,1:0,7:0,9:0,0,8,7 -chr1 924533 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|11,14;DP=25;ECNT=1;GERMQ=93;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=85;POPAF=7.3;TLOD=91.24 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,25:0.937:25:0,2:0,11:0,14:0,0,11,14 -chr1 925036 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1,1|1,2;DP=6;ECNT=2;GERMQ=37;MBQ=31,33;MFRL=0,0;MMQ=60,60;MPOS=53;POPAF=7.3;TLOD=10.25 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,3:0.6:5:0,0:1,1:1,2:1,1,1,2 -chr1 925081 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|1,2;DP=3;ECNT=2;GERMQ=49;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=98;POPAF=7.3;TLOD=10.15 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,0:0,1:0,2:0,0,1,2 -chr1 925628 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|2,2;DP=4;ECNT=1;GERMQ=52;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=100;POPAF=7.3;TLOD=15.23 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 926250 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1,0|3,3;DP=7;ECNT=1;GERMQ=43;MBQ=28,33;MFRL=0,0;MMQ=60,60;MPOS=53;POPAF=7.3;TLOD=20.96 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,6:0.667:7:0,0:1,3:1,3:1,0,3,3 -chr1 926428 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|3,5;DP=10;ECNT=1;GERMQ=63;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=81;POPAF=7.3;TLOD=29.28 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.864:8:0,0:0,3:0,5:0,0,3,5 -chr1 926713 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|2,1;DP=3;ECNT=2;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=81;POPAF=7.3;TLOD=10.95 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,0:0,2:0,2:0,0,2,1 -chr1 926744 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=4;ECNT=2;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=57;POPAF=7.3;TLOD=7.08 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.684:2:0,0:0,1:0,1:0,0,1,1 -chr1 927003 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|1,2;DP=3;ECNT=2;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=57;POPAF=7.3;TLOD=13.02 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.75:3:0,1:0,1:0,2:0|1:927003_C_T:927003:0,0,1,2 -chr1 927009 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|1,2;DP=3;ECNT=2;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=63;POPAF=7.3;TLOD=13.02 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.75:3:0,1:0,1:0,2:0|1:927003_C_T:927003:0,0,1,2 -chr1 927443 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3,4|1,1;DP=9;ECNT=2;GERMQ=43;MBQ=35,33;MFRL=0,0;MMQ=60,60;MPOS=57;POPAF=7.3;TLOD=5.98 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,2:0.286:9:0,0:3,1:4,1:3,4,1,1 -chr1 927486 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2,4|2,2;DP=14;ECNT=2;GERMQ=37;MBQ=32,32;MFRL=0,0;MMQ=60,60;MPOS=70;POPAF=7.3;TLOD=12.43 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,4:0.372:10:0,0:2,2:4,2:2,4,2,2 -chr1 927744 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|6,5;DP=11;ECNT=1;GERMQ=72;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=67;POPAF=7.3;TLOD=40.47 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,11:0.875:11:0,0:0,6:0,6:0,0,6,5 -chr1 928176 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=1;ECNT=2;GERMQ=44;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=132;POPAF=7.3;TLOD=4.2 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,1:0,0:0,1:0|1:928176_G_A:928176:0,0,0,1 -chr1 928182 . A C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=1;ECNT=2;GERMQ=44;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=138;POPAF=7.3;TLOD=4.2 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,1:0,0:0,1:0|1:928176_G_A:928176:0,0,0,1 -chr1 928622 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|1,2;DP=3;ECNT=1;GERMQ=49;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=61;POPAF=7.3;TLOD=10.45 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,1:0,1:0,2:0,0,1,2 -chr1 929346 . T A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|1,2;DP=4;ECNT=3;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=107;POPAF=7.3;TLOD=10.73 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.8:3:0,1:0,1:0,3:0,0,1,2 -chr1 929375 . A G . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0,0|1,2;DP=3;ECNT=3;GERMQ=49;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=39;POPAF=7.3;TLOD=13.02 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.75:3:0,1:0,1:0,2:0|1:929375_A_G:929375:0,0,1,2 -chr1 929377 . G A . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0,0|1,2;DP=3;ECNT=3;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=41;POPAF=7.3;TLOD=13.02 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.75:3:0,1:0,1:0,2:0|1:929375_A_G:929375:0,0,1,2 -chr1 929839 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=38;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=140;POPAF=7.3;TLOD=3.15 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,1:0.5:2:0,0:1,1:1,1:1,0,1,0 -chr1 930939 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=57;POPAF=7.3;TLOD=7.25 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 931513 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=1,0|1,1;DP=3;ECNT=3;GERMQ=38;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=84;POPAF=7.3;TLOD=6.58 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,2:0.5:3:0,0:1,1:1,1:1,0,1,1 -chr1 931540 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|2,2;DP=4;ECNT=3;GERMQ=52;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=114;POPAF=7.3;TLOD=14.23 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 931558 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=2,1|2,1;DP=6;ECNT=3;GERMQ=37;MBQ=32,32;MFRL=0,0;MMQ=60,60;MPOS=99;POPAF=7.3;TLOD=9.35 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,3:0.5:6:0,0:2,2:2,2:2,1,2,1 -chr1 932204 . A T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=1;ECNT=2;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=28;POPAF=7.3;TLOD=3.48 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 932255 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1,1|2,1;DP=5;ECNT=2;GERMQ=37;MBQ=33,31;MFRL=0,0;MMQ=60,60;MPOS=101;POPAF=7.3;TLOD=9.65 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,3:0.6:5:0,0:1,2:1,2:1,1,2,1 -chr1 932512 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,1|1,1;DP=3;ECNT=1;GERMQ=38;MBQ=31,33;MFRL=0,0;MMQ=60,60;MPOS=104;POPAF=7.3;TLOD=6.45 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,2:0.5:3:1,0:0,1:1,1:0,1,1,1 -chr1 933511 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=2;GERMQ=46;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=73;POPAF=7.3;TLOD=7.55 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 936972 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|2,2;DP=4;ECNT=1;GERMQ=52;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=98;POPAF=7.3;TLOD=14.73 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 938222 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=3;POPAF=7.3;TLOD=7.05 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 938650 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=1;ECNT=1;GERMQ=44;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=147;POPAF=7.3;TLOD=3.28 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 939038 . A C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=19;POPAF=7.3;TLOD=7.15 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 939864 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2,2|1,1;DP=6;ECNT=1;GERMQ=39;MBQ=35,31;MFRL=0,0;MMQ=60,60;MPOS=49;POPAF=7.3;TLOD=5.97 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,2:0.4:6:0,0:2,1:2,1:2,2,1,1 -chr1 941119 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=21;POPAF=7.3;TLOD=7.31 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 941767 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4,4|2,2;DP=12;ECNT=1;GERMQ=39;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=77;POPAF=7.3;TLOD=12.66 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:8,4:0.375:12:0,0:4,2:4,2:4,4,2,2 -chr1 942335 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=43;POPAF=7.3;TLOD=7.15 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 942451 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|4,1;DP=5;ECNT=1;GERMQ=55;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=45;POPAF=7.3;TLOD=18.09 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.833:5:0,0:0,4:0,4:0,0,4,1 -chr1 943946 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=25,21|1,1;DP=48;ECNT=1;GERMQ=93;MBQ=34,32;MFRL=0,0;MMQ=60,60;MPOS=117;POPAF=7.3;TLOD=4.44 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:46,2:0.067:48:2,0:25,1:27,1:25,21,1,1 -chr1 944296 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=1,1|55,48;DP=106;ECNT=3;GERMQ=93;MBQ=29,32;MFRL=0,0;MMQ=60,60;MPOS=89;POPAF=7.3;TLOD=367.81 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,103:0.984:105:0,0:0,55:0,60:1,1,55,48 -chr1 944307 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|55,51;DP=107;ECNT=3;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=85;POPAF=7.3;TLOD=398.76 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,106:0.984:106:0,0:0,55:0,62:0,0,55,51 -chr1 944573 . T A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=34,39|1,1;DP=82;ECNT=1;GERMQ=93;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=112;POPAF=7.3;TLOD=4.03 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:73,2:0.043:75:9,0:34,1:43,1:34,39,1,1 -chr1 944722 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=26,29|1,1;DP=59;ECNT=1;GERMQ=93;MBQ=33,34;MFRL=0,0;MMQ=59,60;MPOS=22;POPAF=7.3;TLOD=4.74 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:55,2:0.06:57:3,0:26,1:30,1:26,29,1,1 -chr1 944858 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|2,2;DP=4;ECNT=1;GERMQ=52;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=67;POPAF=7.3;TLOD=14.83 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 945827 . A T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5,3|1,1;DP=10;ECNT=1;GERMQ=45;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=45;POPAF=7.3;TLOD=5.83 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:8,2:0.25:10:0,0:5,1:5,1:5,3,1,1 -chr1 946247 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2,2|1,1;DP=6;ECNT=1;GERMQ=39;MBQ=34,33;MFRL=0,0;MMQ=60,39;MPOS=45;POPAF=7.3;TLOD=6.15 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,2:0.333:6:1,0:2,1:3,1:2,2,1,1 -chr1 946538 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2,2|1,1;DP=6;ECNT=1;GERMQ=39;MBQ=33,34;MFRL=0,0;MMQ=60,31;MPOS=10;POPAF=7.3;TLOD=4.87 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,2:0.5:6:0,1:2,1:2,2:2,2,1,1 -chr1 947371 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3,1|1,1;DP=6;ECNT=2;GERMQ=39;MBQ=32,34;MFRL=0,0;MMQ=60,60;MPOS=37;POPAF=7.3;TLOD=6.35 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,2:0.333:6:0,0:3,1:3,1:3,1,1,1 -chr1 947423 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|5,3;DP=9;ECNT=2;GERMQ=63;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=97;POPAF=7.3;TLOD=29.94 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.857:8:0,0:0,5:0,5:0,0,5,3 -chr1 948245 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=1;ECNT=1;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=59;POPAF=7.3;TLOD=3.48 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 948711 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|3,2;DP=5;ECNT=1;GERMQ=55;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=109;POPAF=7.3;TLOD=18.88 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.8:5:0,0:0,3:0,3:0,0,3,2 -chr1 949435 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|2,2;DP=4;ECNT=1;GERMQ=52;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=46;POPAF=7.3;TLOD=14.43 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 949628 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2,2|1,1;DP=6;ECNT=1;GERMQ=39;MBQ=33,31;MFRL=0,0;MMQ=60,60;MPOS=78;POPAF=7.3;TLOD=5.97 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,2:0.4:6:0,0:2,1:2,1:2,2,1,1 -chr1 950319 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=128;POPAF=7.3;TLOD=7.25 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 952421 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|1,2;DP=8;ECNT=1;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,42;MPOS=142;POPAF=7.3;TLOD=10.9 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.787:3:0,1:0,1:0,2:0,0,1,2 -chr1 952567 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=13,15|1,1;DP=31;ECNT=1;GERMQ=91;MBQ=32,30;MFRL=0,0;MMQ=48,53;MPOS=12;POPAF=7.3;TLOD=4.46 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:28,2:0.104:30:3,0:13,1:16,1:13,15,1,1 -chr1 953259 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|2,4;DP=6;ECNT=2;GERMQ=58;MBQ=0,33;MFRL=0,0;MMQ=60,54;MPOS=114;POPAF=7.3;TLOD=17.66 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.855:6:0,2:0,2:0,5:0,0,2,4 -chr1 953279 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|1,4;DP=5;ECNT=2;GERMQ=55;MBQ=0,34;MFRL=0,0;MMQ=60,48;MPOS=108;POPAF=7.3;TLOD=17.3 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.857:5:0,3:0,1:0,5:0,0,1,4 -chr1 954258 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|5,6;DP=12;ECNT=2;GERMQ=72;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=40;POPAF=7.3;TLOD=40.72 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,11:0.893:11:0,1:0,5:0,7:0,0,5,6 -chr1 954333 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|9,7;DP=17;ECNT=2;GERMQ=87;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=88;POPAF=7.3;TLOD=56.99 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,16:0.917:16:0,0:0,9:0,10:0,0,9,7 -chr1 954574 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|2,2;DP=4;ECNT=1;GERMQ=52;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=94;POPAF=7.3;TLOD=15.23 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 955384 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=6,7|1,1;DP=17;ECNT=1;GERMQ=55;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=73;POPAF=7.3;TLOD=5.6 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:13,2:0.182:15:0,0:6,1:8,1:6,7,1,1 -chr1 955641 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|4,4;DP=9;ECNT=2;GERMQ=63;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=36;POPAF=7.3;TLOD=25.25 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.841:8:0,0:0,4:0,4:0,0,4,4 -chr1 955679 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1,1|2,1;DP=5;ECNT=2;GERMQ=37;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=28;POPAF=7.3;TLOD=9.92 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,3:0.6:5:0,0:1,2:1,2:1,1,2,1 -chr1 956565 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,2|2,2;DP=6;ECNT=1;GERMQ=36;MBQ=31,33;MFRL=0,0;MMQ=60,60;MPOS=38;POPAF=7.3;TLOD=13.13 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,4:0.572:6:1,1:0,2:2,3:0,2,2,2 -chr1 957365 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|6,6;DP=12;ECNT=1;GERMQ=75;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=82;POPAF=7.3;TLOD=42.72 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,12:0.889:12:0,1:0,6:0,7:0,0,6,6 -chr1 957900 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|5,6;DP=13;ECNT=1;GERMQ=72;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=64;POPAF=7.3;TLOD=39.58 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,11:0.88:11:0,0:0,5:0,6:0,0,5,6 -chr1 959193 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|1,2;DP=3;ECNT=1;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=14;POPAF=7.3;TLOD=10.63 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,0:0,1:0,2:0,0,1,2 -chr1 960891 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|1,2;DP=3;ECNT=1;GERMQ=49;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=98;POPAF=7.3;TLOD=10.55 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,1:0,1:0,2:0,0,1,2 -chr1 961096 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|3,4;DP=8;ECNT=1;GERMQ=60;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=87;POPAF=7.3;TLOD=24.13 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,7:0.864:7:0,1:0,3:0,5:0,0,3,4 -chr1 961945 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|11,14;DP=26;ECNT=2;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=81;POPAF=7.3;TLOD=95.02 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,25:0.941:25:0,3:0,11:0,15:0,0,11,14 -chr1 962001 . T A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5,7|1,1;DP=14;ECNT=2;GERMQ=53;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=134;POPAF=7.3;TLOD=5.5 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:12,2:0.2:14:0,0:5,1:7,1:5,7,1,1 -chr1 962184 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|5,3;DP=10;ECNT=1;GERMQ=63;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=27;POPAF=7.3;TLOD=29.35 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.864:8:0,0:0,5:0,5:0,0,5,3 -chr1 962943 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=81;POPAF=7.3;TLOD=7.35 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 964218 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2,1|1,1;DP=5;ECNT=1;GERMQ=38;MBQ=35,30;MFRL=0,0;MMQ=60,60;MPOS=90;POPAF=7.3;TLOD=5.45 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,2:0.4:5:0,0:2,1:2,1:2,1,1,1 -chr1 965125 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=7,6|9,8;DP=30;ECNT=1;GERMQ=34;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=72;POPAF=7.3;TLOD=58.41 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:13,17:0.6:30:0,2:7,9:7,11:7,6,9,8 -chr1 965350 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|11,11;DP=23;ECNT=2;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=72;POPAF=7.3;TLOD=92.19 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,22:0.937:22:0,0:0,11:0,14:0|1:965337_CTTAT_C:965337:0,0,11,11 -chr1 965592 . T G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|10,11;DP=24;ECNT=4;GERMQ=93;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=22;POPAF=7.3;TLOD=80.81 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,21:0.927:21:0,1:0,10:0,11:0,0,10,11 -chr1 965615 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=10,11|1,1;DP=23;ECNT=4;GERMQ=74;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=119;POPAF=7.3;TLOD=5.36 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:21,2:0.143:23:1,0:10,1:11,1:10,11,1,1 -chr1 965643 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|10,11;DP=21;ECNT=4;GERMQ=93;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=72;POPAF=7.3;TLOD=78.84 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,21:0.923:21:0,1:0,10:0,11:0,0,10,11 -chr1 966179 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=4;ECNT=3;GERMQ=46;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=17;POPAF=7.3;TLOD=3.21 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.684:2:0,0:0,1:0,1:0,0,1,1 -chr1 966227 . C G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|2,2;DP=4;ECNT=3;GERMQ=52;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=69;POPAF=7.3;TLOD=14.43 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 966272 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|2,2;DP=4;ECNT=3;GERMQ=52;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=24;POPAF=7.3;TLOD=14.83 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 966665 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=2;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=113;POPAF=7.3;TLOD=7.45 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 966770 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1,1|1,1;DP=4;ECNT=2;GERMQ=37;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=124;POPAF=7.3;TLOD=6.66 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.5:4:0,0:1,1:1,1:1,1,1,1 -chr1 967384 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|3,1;DP=4;ECNT=2;GERMQ=52;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=53;POPAF=7.3;TLOD=17.4 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,4:0.8:4:0,0:0,3:0,3:0|1:967376_AC_A:967376:0,0,3,1 -chr1 968841 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1,1|1,1;DP=4;ECNT=1;GERMQ=37;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=113;POPAF=7.3;TLOD=6.68 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.5:4:0,0:1,1:1,1:1,1,1,1 -chr1 970005 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2,0|1,1;DP=4;ECNT=1;GERMQ=37;MBQ=34,29;MFRL=0,0;MMQ=41,60;MPOS=43;POPAF=7.3;TLOD=5.57 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.4:4:0,0:2,1:2,1:2,0,1,1 -chr1 970874 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,1|1,1;DP=3;ECNT=1;GERMQ=38;MBQ=32,29;MFRL=0,0;MMQ=60,60;MPOS=90;POPAF=7.3;TLOD=5.97 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,2:0.5:3:1,0:0,1:1,1:0,1,1,1 -chr1 971513 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1,0|1,1;DP=3;ECNT=1;GERMQ=38;MBQ=32,30;MFRL=0,0;MMQ=60,60;MPOS=3;POPAF=7.3;TLOD=6.18 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,2:0.5:3:0,0:1,1:1,1:1,0,1,1 -chr1 973841 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=1;ECNT=1;GERMQ=44;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=52;POPAF=7.3;TLOD=3.58 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 973929 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1,1|1,1;DP=4;ECNT=1;GERMQ=37;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=115;POPAF=7.3;TLOD=6.98 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.5:4:0,0:1,1:1,1:1,1,1,1 -chr1 974388 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=110;POPAF=7.3;TLOD=7.05 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 975139 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=1;ECNT=1;GERMQ=44;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=67;POPAF=7.3;TLOD=3.25 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 975447 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=4,2|1,2;DP=9;ECNT=3;GERMQ=39;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=136;POPAF=7.3;TLOD=6.28 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,3:0.286:9:0,0:4,1:4,1:4,2,1,2 -chr1 975523 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=3,3|3,2;DP=11;ECNT=3;GERMQ=36;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=18;POPAF=7.3;TLOD=16.54 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,5:0.5:11:0,0:3,3:3,3:3,3,3,2 -chr1 976215 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5,7|3,3;DP=20;ECNT=1;GERMQ=40;MBQ=32,34;MFRL=0,0;MMQ=60,60;MPOS=65;POPAF=7.3;TLOD=19.72 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:12,6:0.332:18:1,0:5,3:7,3:5,7,3,3 -chr1 997238 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=94;POPAF=7.3;TLOD=6.98 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.75:2:0,0:0,2:0,2:0,0,2,0 -chr1 997987 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,28;MFRL=0,0;MMQ=60,60;MPOS=94;POPAF=7.3;TLOD=6.25 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 999005 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=33,28|28,18;DP=108;ECNT=2;GERMQ=36;MBQ=34,32;MFRL=0,0;MMQ=60,60;MPOS=124;POPAF=7.3;TLOD=151.05 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:61,46:0.46:107:0,0:33,28:33,28:33,28,28,18 -chr1 999577 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=25,28|1,1;DP=55;ECNT=1;GERMQ=93;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=84;POPAF=7.3;TLOD=4.24 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:53,2:0.048:55:13,0:25,1:39,1:25,28,1,1 -chr1 999842 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4,5|18,20;DP=52;ECNT=1;GERMQ=69;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=39;POPAF=7.3;TLOD=126.5 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:9,38:0.818:47:0,2:3,17:5,24:4,5,18,20 -chr1 1000079 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|40,48;DP=90;ECNT=4;GERMQ=93;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=19;POPAF=7.3;TLOD=338.09 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,88:0.981:88:0,8:0,40:0,49:0,0,40,48 -chr1 1000112 . G T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|9,10;DP=29;ECNT=4;GERMQ=93;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=42;POPAF=7.3;TLOD=64.39 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,19:0.929:19:0,0:0,8:0,10:0,0,9,10 -chr1 1000134 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=8,8|1,1;DP=18;ECNT=4;GERMQ=62;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=112;POPAF=7.3;TLOD=5.51 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:16,2:0.167:18:0,0:8,1:9,1:8,8,1,1 -chr1 1000207 . C G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=14,11|1,1;DP=29;ECNT=4;GERMQ=83;MBQ=33,29;MFRL=0,0;MMQ=60,60;MPOS=73;POPAF=7.3;TLOD=4.36 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:25,2:0.116:27:0,0:14,1:14,1:14,11,1,1 -chr1 1000335 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=7,7|8,6;DP=29;ECNT=1;GERMQ=34;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=31;POPAF=7.3;TLOD=45.17 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:14,14:0.5:28:2,1:7,8:9,9:7,7,8,6 -chr1 1000453 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1,1|19,14;DP=37;ECNT=1;GERMQ=93;MBQ=22,32;MFRL=0,0;MMQ=60,60;MPOS=72;POPAF=7.3;TLOD=117.94 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,33:0.918:35:0,2:1,19:1,21:1,1,19,14 -chr1 1000731 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=10,14|13,14;DP=51;ECNT=3;GERMQ=32;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=86;POPAF=7.3;TLOD=86.76 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:24,27:0.5:51:4,1:10,12:14,14:10,14,13,14 -chr1 1000814 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|14,20;DP=34;ECNT=3;GERMQ=93;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=11;POPAF=7.3;TLOD=127.94 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,34:0.957:34:0,1:0,14:0,21:0,0,14,20 -chr1 1000830 . C A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|7,9;DP=18;ECNT=3;GERMQ=87;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=25;POPAF=7.3;TLOD=57.77 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,16:0.919:16:0,0:0,7:0,10:0,0,7,9 -chr1 1001107 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=61;POPAF=7.3;TLOD=7.35 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1002308 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=20;POPAF=7.3;TLOD=7.65 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1009083 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1,1|1,1;DP=4;ECNT=1;GERMQ=37;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=30;POPAF=7.3;TLOD=6.65 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.5:4:0,0:1,1:1,1:1,1,1,1 -chr1 1012158 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|2,3;DP=5;ECNT=1;GERMQ=55;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=53;POPAF=7.3;TLOD=17.15 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.8:5:0,1:0,2:0,3:0,0,2,3 -chr1 1013312 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|2,1;DP=4;ECNT=1;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=59;POPAF=7.3;TLOD=10.65 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,0:0,2:0,2:0,0,2,1 -chr1 1013490 . C G . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0,0|3,1;DP=4;ECNT=3;GERMQ=52;MBQ=0,30;MFRL=0,0;MMQ=60,60;MPOS=77;POPAF=7.3;TLOD=17.4 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,4:0.8:4:0,0:0,3:0,3:0|1:1013466_T_TA:1013466:0,0,3,1 -chr1 1013541 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|46,3;DP=52;ECNT=3;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=28;POPAF=7.3;TLOD=179.34 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,49:0.98:49:0,0:0,46:0,47:0,0,46,3 -chr1 1013855 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|4,6;DP=12;ECNT=1;GERMQ=69;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=77;POPAF=7.3;TLOD=35.6 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,10:0.88:10:0,1:0,4:0,6:0,0,4,6 -chr1 1014228 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=122,149|32,42;DP=366;ECNT=2;GERMQ=93;MBQ=34,32;MFRL=0,0;MMQ=60,60;MPOS=72;POPAF=7.3;TLOD=216.65 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:271,74:0.243:345:30,16:122,32:161,51:122,149,32,42 -chr1 1014274 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|145,150;DP=303;ECNT=2;GERMQ=93;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=94;POPAF=7.3;TLOD=1139.03 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,295:0.995:295:0,11:0,143:0,180:0,0,145,150 -chr1 1014545 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|3,1;DP=4;ECNT=1;GERMQ=52;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=111;POPAF=7.3;TLOD=13.91 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.8:4:0,0:0,3:0,3:0,0,3,1 -chr1 1019636 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=50;POPAF=7.3;TLOD=7.45 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1019833 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=115;POPAF=7.3;TLOD=7.48 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.75:2:0,1:0,0:0,2:0,0,0,2 -chr1 1020217 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|19,17;DP=36;ECNT=1;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=42;POPAF=7.3;TLOD=131.67 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,36:0.952:36:0,0:0,19:0,19:0,0,19,17 -chr1 1021740 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|2,4;DP=6;ECNT=1;GERMQ=58;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=97;POPAF=7.3;TLOD=22.18 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.857:6:0,1:0,2:0,5:0,0,2,4 -chr1 1022388 . A T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=15,20|1,1;DP=37;ECNT=1;GERMQ=93;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=136;POPAF=7.3;TLOD=4.79 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:35,2:0.087:37:4,0:15,1:20,1:15,20,1,1 -chr1 1023525 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=1;ECNT=1;GERMQ=44;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=126;POPAF=7.3;TLOD=3.58 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 1026830 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=37;POPAF=7.3;TLOD=7.15 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1031917 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=64;POPAF=7.3;TLOD=7.35 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1035987 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|2,1;DP=3;ECNT=1;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=8;POPAF=7.3;TLOD=10.75 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,0:0,2:0,2:0,0,2,1 -chr1 1036754 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=3;ECNT=1;GERMQ=46;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=47;POPAF=7.3;TLOD=6.78 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.75:2:0,0:0,2:0,2:0,0,2,0 -chr1 1037505 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2,5|1,1;DP=9;ECNT=1;GERMQ=43;MBQ=32,34;MFRL=0,0;MMQ=60,60;MPOS=64;POPAF=7.3;TLOD=6.13 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,2:0.25:9:2,0:2,1:5,1:2,5,1,1 -chr1 1037956 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|3,3;DP=6;ECNT=3;GERMQ=58;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=60;POPAF=7.3;TLOD=22.26 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.8:6:0,0:0,3:0,3:0,0,3,3 -chr1 1037997 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|4,3;DP=7;ECNT=3;GERMQ=60;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=84;POPAF=7.3;TLOD=25.44 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,7:0.833:7:0,0:0,4:0,4:0,0,4,3 -chr1 1038078 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|3,2;DP=5;ECNT=3;GERMQ=55;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=15;POPAF=7.3;TLOD=18.58 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.8:5:0,0:0,3:0,3:0,0,3,2 -chr1 1038288 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|4,1;DP=5;ECNT=1;GERMQ=55;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=52;POPAF=7.3;TLOD=17.21 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.833:5:0,0:0,4:0,4:0,0,4,1 -chr1 1038762 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=4,5|1,1;DP=11;ECNT=6;GERMQ=47;MBQ=33,31;MFRL=0,0;MMQ=60,60;MPOS=137;POPAF=7.3;TLOD=5.43 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:9,2:0.25:11:1,0:4,1:5,1:4,5,1,1 -chr1 1038800 . G T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|4,4;DP=9;ECNT=6;GERMQ=63;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=53;POPAF=7.3;TLOD=28.38 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.841:8:0,0:0,4:0,4:0,0,4,4 -chr1 1038819 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|4,4;DP=8;ECNT=6;GERMQ=63;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=72;POPAF=7.3;TLOD=28.42 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.833:8:0,0:0,4:0,4:0,0,4,4 -chr1 1038845 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|3,3;DP=6;ECNT=6;GERMQ=58;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=87;POPAF=7.3;TLOD=22.53 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.8:6:0,0:0,3:0,3:0,0,3,3 -chr1 1038916 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=6;GERMQ=46;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=76;POPAF=7.3;TLOD=7.12 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1039114 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|2,3;DP=5;ECNT=2;GERMQ=55;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=69;POPAF=7.3;TLOD=17.78 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.8:5:0,1:0,2:0,3:0,0,2,3 -chr1 1039190 . T G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=2;GERMQ=44;MBQ=0,29;MFRL=0,0;MMQ=60,60;MPOS=145;POPAF=7.3;TLOD=3.01 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.684:1:0,0:0,0:0,1:0,0,0,1 -chr1 1039514 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=40;POPAF=7.3;TLOD=7.15 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1039753 . T A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|1,2;DP=3;ECNT=1;GERMQ=49;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=113;POPAF=7.3;TLOD=8.4 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,0:0,1:0,2:0,0,1,2 -chr1 1040322 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=101;POPAF=7.3;TLOD=7.45 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1041586 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=12,13|1,1;DP=27;ECNT=1;GERMQ=83;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=99;POPAF=7.3;TLOD=5.02 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:25,2:0.111:27:2,0:12,1:15,1:12,13,1,1 -chr1 1041950 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=36;POPAF=7.3;TLOD=6.85 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1042190 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=85;POPAF=7.3;TLOD=7.25 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1042400 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=1;ECNT=1;GERMQ=44;MBQ=0,29;MFRL=0,0;MMQ=60,60;MPOS=20;POPAF=7.3;TLOD=3.08 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 1043295 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=7,7|1,1;DP=16;ECNT=1;GERMQ=57;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=70;POPAF=7.3;TLOD=5.42 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:14,2:0.168:16:2,0:6,1:9,1:7,7,1,1 -chr1 1043611 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=11,9|1,1;DP=22;ECNT=1;GERMQ=71;MBQ=35,31;MFRL=0,0;MMQ=60,60;MPOS=35;POPAF=7.3;TLOD=4.96 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:20,2:0.143:22:0,0:11,1:11,1:11,9,1,1 -chr1 1044368 . A T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,23;MFRL=0,0;MMQ=60,60;MPOS=12;POPAF=7.3;TLOD=4.03 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,0:0,1:0,0,1,1 -chr1 1045080 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=1;ECNT=1;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=43;POPAF=7.3;TLOD=3.48 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 1045707 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=17;POPAF=7.3;TLOD=7.35 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1046488 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=10,14|1,1;DP=26;ECNT=2;GERMQ=81;MBQ=32,31;MFRL=0,0;MMQ=60,60;MPOS=64;POPAF=7.3;TLOD=4.77 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:24,2:0.118:26:3,0:10,1:14,1:10,14,1,1 -chr1 1046551 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|3,4;DP=12;ECNT=2;GERMQ=60;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=127;POPAF=7.3;TLOD=24.93 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,7:0.876:7:0,0:0,3:0,5:0,0,3,4 -chr1 1047064 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|5,6;DP=11;ECNT=3;GERMQ=72;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=86;POPAF=7.3;TLOD=40.34 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,11:0.888:11:0,1:0,5:0,7:0,0,5,6 -chr1 1047082 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|2,4;DP=10;ECNT=3;GERMQ=58;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=104;POPAF=7.3;TLOD=18.91 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.867:6:0,1:0,2:0,5:0,0,2,4 -chr1 1047133 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|2,2;DP=4;ECNT=3;GERMQ=52;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=52;POPAF=7.3;TLOD=14.61 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.8:4:0,1:0,2:0,3:0,0,2,2 -chr1 1047233 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3,3|1,1;DP=8;ECNT=1;GERMQ=42;MBQ=32,34;MFRL=0,0;MMQ=60,60;MPOS=57;POPAF=7.3;TLOD=6.18 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,2:0.286:8:0,0:3,1:4,1:3,3,1,1 -chr1 1047614 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=25;POPAF=7.3;TLOD=7.45 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1048096 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=22,16|1,1;DP=43;ECNT=1;GERMQ=93;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=47;POPAF=7.3;TLOD=4.7 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:38,2:0.079:40:0,0:22,1:22,1:22,16,1,1 -chr1 1048912 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=7,7|1,1;DP=16;ECNT=1;GERMQ=57;MBQ=35,33;MFRL=0,0;MMQ=60,60;MPOS=53;POPAF=7.3;TLOD=5.41 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:14,2:0.167:16:2,0:7,1:9,1:7,7,1,1 -chr1 1054866 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=6,4|1,1;DP=12;ECNT=1;GERMQ=49;MBQ=35,33;MFRL=0,0;MMQ=60,60;MPOS=55;POPAF=7.3;TLOD=5.81 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:10,2:0.222:12:0,0:6,1:6,1:6,4,1,1 -chr1 1055000 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|15,16;DP=33;ECNT=3;GERMQ=93;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=60;POPAF=7.3;TLOD=113.32 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,31:0.948:31:0,1:0,15:0,17:0,0,15,16 -chr1 1055037 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|13,13;DP=30;ECNT=3;GERMQ=93;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=88;POPAF=7.3;TLOD=92.44 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,26:0.944:26:0,1:0,12:0,15:0,0,13,13 -chr1 1055137 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|19,14;DP=34;ECNT=3;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=54;POPAF=7.3;TLOD=114.95 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,33:0.955:33:0,0:0,18:0,20:0,0,19,14 -chr1 1055393 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|13,17;DP=31;ECNT=2;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=79;POPAF=7.3;TLOD=102.54 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,30:0.951:30:0,5:0,10:0,18:0,0,13,17 -chr1 1055426 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|12,12;DP=28;ECNT=2;GERMQ=93;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=103;POPAF=7.3;TLOD=85.82 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,24:0.943:24:0,2:0,12:0,14:0,0,12,12 -chr1 1055604 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|29,32;DP=65;ECNT=1;GERMQ=93;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=73;POPAF=7.3;TLOD=216.66 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,61:0.974:61:0,3:0,29:0,36:0,0,29,32 -chr1 1055959 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=17,27|1,1;DP=47;ECNT=1;GERMQ=93;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=32;POPAF=7.3;TLOD=4.51 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:44,2:0.065:46:10,0:17,1:28,1:17,27,1,1 -chr1 1063121 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1,1|3,0;DP=5;ECNT=1;GERMQ=37;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=33;POPAF=7.3;TLOD=9.83 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,3:0.667:5:0,0:1,3:1,3:1,1,3,0 -chr1 1065797 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=53,37|4,2;DP=97;ECNT=1;GERMQ=93;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=69;POPAF=7.3;TLOD=15.3 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:90,6:0.085:96:0,0:51,4:53,4:53,37,4,2 -chr1 1065963 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=15,18|1,1;DP=37;ECNT=1;GERMQ=93;MBQ=32,32;MFRL=0,0;MMQ=60,60;MPOS=6;POPAF=7.3;TLOD=4.6 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:33,2:0.079:35:6,0:15,1:22,1:15,18,1,1 -chr1 1066087 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=19,15|1,1;DP=36;ECNT=4;GERMQ=93;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=102;POPAF=7.3;TLOD=4.74 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:34,2:0.083:36:1,0:19,1:21,1:19,15,1,1 -chr1 1066088 . A C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=19,15|1,1;DP=36;ECNT=4;GERMQ=93;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=96;POPAF=7.3;TLOD=4.41 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:34,2:0.083:36:1,0:19,1:21,1:19,15,1,1 -chr1 1066174 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=16,18|1,1;DP=37;ECNT=4;GERMQ=93;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=25;POPAF=7.3;TLOD=4.89 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:34,2:0.087:36:0,0:16,1:20,1:16,18,1,1 -chr1 1066230 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=16,20|1,1;DP=38;ECNT=4;GERMQ=93;MBQ=33,30;MFRL=0,0;MMQ=60,56;MPOS=62;POPAF=7.3;TLOD=4.25 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:36,2:0.083:38:0,0:16,1:21,1:16,20,1,1 -chr1 1066726 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5,6|1,1;DP=13;ECNT=1;GERMQ=51;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=76;POPAF=7.3;TLOD=5.71 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:11,2:0.222:13:1,0:5,1:6,1:5,6,1,1 -chr1 1067007 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=15,16|2,2;DP=36;ECNT=3;GERMQ=85;MBQ=32,31;MFRL=0,0;MMQ=60,60;MPOS=14;POPAF=7.3;TLOD=10.87 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:31,4:0.143:35:1,0:14,2:17,2:15,16,2,2 -chr1 1067159 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=11,9|2,1;DP=24;ECNT=3;GERMQ=65;MBQ=34,32;MFRL=0,0;MMQ=60,60;MPOS=79;POPAF=7.3;TLOD=7.99 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:20,3:0.2:23:0,0:11,2:11,2:11,9,2,1 -chr1 1067173 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=10,10|1,1;DP=23;ECNT=3;GERMQ=71;MBQ=32,34;MFRL=0,0;MMQ=60,60;MPOS=37;POPAF=7.3;TLOD=5.39 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:20,2:0.133:22:0,0:9,1:12,1:10,10,1,1 -chr1 1068165 . G T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=4,3|1,1;DP=9;ECNT=3;GERMQ=43;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=94;POPAF=7.3;TLOD=5.83 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,2:0.25:9:1,0:4,1:5,1:4,3,1,1 -chr1 1068198 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=7,8|1,1;DP=18;ECNT=3;GERMQ=59;MBQ=33,31;MFRL=0,0;MMQ=60,60;MPOS=98;POPAF=7.3;TLOD=5.18 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:15,2:0.179:17:1,0:7,1:8,1:7,8,1,1 -chr1 1068249 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=7,7|2,2;DP=18;ECNT=3;GERMQ=48;MBQ=34,32;MFRL=0,0;MMQ=60,60;MPOS=55;POPAF=7.3;TLOD=12.05 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:14,4:0.273:18:0,0:7,2:7,2:7,7,2,2 -chr1 1068591 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=28,29|2,2;DP=63;ECNT=5;GERMQ=93;MBQ=32,35;MFRL=0,0;MMQ=60,60;MPOS=114;POPAF=7.3;TLOD=11.26 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:57,4:0.075:61:8,0:27,2:36,2:28,29,2,2 -chr1 1068604 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=30,33|1,1;DP=67;ECNT=5;GERMQ=93;MBQ=32,34;MFRL=0,0;MMQ=60,53;MPOS=86;POPAF=7.3;TLOD=4.47 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:63,2:0.049:65:7,0:30,1:37,1:30,33,1,1 -chr1 1068628 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=28,36|1,2;DP=69;ECNT=5;GERMQ=93;MBQ=33,32;MFRL=0,0;MMQ=60,59;MPOS=116;POPAF=7.3;TLOD=6.45 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:64,3:0.073:67:4,0:27,1:37,2:28,36,1,2 -chr1 1068664 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=26,35|3,4;DP=68;ECNT=5;GERMQ=93;MBQ=32,33;MFRL=0,0;MMQ=60,59;MPOS=50;POPAF=7.3;TLOD=20.02 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:61,7:0.122:68:4,0:25,3:35,4:26,35,3,4 -chr1 1068727 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=4,15|1,2;DP=25;ECNT=5;GERMQ=63;MBQ=32,34;MFRL=0,0;MMQ=60,59;MPOS=17;POPAF=7.3;TLOD=8.12 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:19,3:0.156:22:0,0:4,1:15,2:4,15,1,2 -chr1 1068905 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=11,11|1,1;DP=26;ECNT=2;GERMQ=76;MBQ=35,31;MFRL=0,0;MMQ=60,60;MPOS=107;POPAF=7.3;TLOD=4.95 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:22,2:0.141:24:0,0:9,1:11,1:11,11,1,1 -chr1 1068951 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|5,7;DP=12;ECNT=2;GERMQ=75;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=61;POPAF=7.3;TLOD=41.4 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,12:0.888:12:0,0:0,5:0,7:0,0,5,7 -chr1 1069761 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2,1|1,1;DP=5;ECNT=1;GERMQ=38;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=141;POPAF=7.3;TLOD=3.82 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,2:0.4:5:0,0:2,1:2,1:2,1,1,1 -chr1 1071610 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=9,10|10,9;DP=39;ECNT=1;GERMQ=33;MBQ=32,32;MFRL=0,0;MMQ=60,60;MPOS=101;POPAF=7.3;TLOD=62.27 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:19,19:0.538:38:1,2:9,10:11,13:9,10,10,9 -chr1 1071823 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=2,4|2,2;DP=10;ECNT=4;GERMQ=37;MBQ=31,34;MFRL=0,0;MMQ=60,60;MPOS=16;POPAF=7.3;TLOD=13.09 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,4:0.375:10:0,0:2,2:4,2:2,4,2,2 -chr1 1071842 . G T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=2,2|1,1;DP=6;ECNT=4;GERMQ=39;MBQ=31,33;MFRL=0,0;MMQ=60,60;MPOS=21;POPAF=7.3;TLOD=6.15 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,2:0.333:6:0,0:2,1:3,1:2,2,1,1 -chr1 1072067 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=6,7|1,1;DP=16;ECNT=1;GERMQ=55;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=15;POPAF=7.3;TLOD=5.5 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:13,2:0.182:15:1,0:6,1:8,1:6,7,1,1 -chr1 1074098 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2,1|2,3;DP=11;ECNT=1;GERMQ=36;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=74;POPAF=7.3;TLOD=17.05 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,5:0.574:8:0,1:2,2:2,3:2,1,2,3 -chr1 1074738 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=1;ECNT=1;GERMQ=44;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=21;POPAF=7.3;TLOD=3.38 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 1074879 . G A . haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=1;ECNT=2;GERMQ=44;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=34;POPAF=7.3;TLOD=4.2 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,1:0,0:0,1:0|1:1074879_G_A:1074879:0,0,0,1 -chr1 1074893 . A C . base_qual;haplotype AS_FilterStatus=base_qual;AS_SB_TABLE=0,0|0,0;DP=1;ECNT=2;GERMQ=44;MBQ=0,13;MFRL=0,0;MMQ=60,60;MPOS=48;POPAF=7.3;TLOD=4.2 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,0:0,0:0,1:0|1:1074879_G_A:1074879:0,0,0,1 -chr1 1080336 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=122;POPAF=7.3;TLOD=3.48 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 1080437 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=3;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=35;POPAF=7.3;TLOD=7.08 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.684:2:0,0:0,1:0,1:0,0,1,1 -chr1 1081649 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=108;POPAF=7.3;TLOD=7.02 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1081961 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=6,6|7,3;DP=22;ECNT=1;GERMQ=35;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=86;POPAF=7.3;TLOD=28.93 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:12,10:0.5:22:1,0:6,7:7,7:6,6,7,3 -chr1 1082207 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=6,10|4,4;DP=26;ECNT=1;GERMQ=41;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=32;POPAF=7.3;TLOD=25.52 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:16,8:0.352:24:4,1:6,4:10,5:6,10,4,4 -chr1 1082609 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=17,16|1,1;DP=35;ECNT=1;GERMQ=93;MBQ=32,34;MFRL=0,0;MMQ=60,60;MPOS=68;POPAF=7.3;TLOD=4.99 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:33,2:0.087:35:3,0:17,1:20,1:17,16,1,1 -chr1 1083362 . T G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=1;ECNT=1;GERMQ=44;MBQ=0,29;MFRL=0,0;MMQ=60,60;MPOS=140;POPAF=7.3;TLOD=3.08 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 1085966 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2,2|2,2;DP=8;ECNT=1;GERMQ=36;MBQ=34,34;MFRL=0,0;MMQ=60,60;MPOS=46;POPAF=7.3;TLOD=13.83 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,4:0.5:8:0,0:2,2:2,2:2,2,2,2 -chr1 1090943 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1,2|1,1;DP=6;ECNT=1;GERMQ=38;MBQ=25,34;MFRL=0,0;MMQ=60,60;MPOS=75;POPAF=7.3;TLOD=6.67 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,2:0.4:5:0,0:1,1:2,1:1,2,1,1 -chr1 1091421 . T A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=104;POPAF=7.3;TLOD=7.15 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1094198 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|3,2;DP=5;ECNT=1;GERMQ=55;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=100;POPAF=7.3;TLOD=17.48 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.8:5:0,0:0,3:0,3:0,0,3,2 -chr1 1095185 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4,3|1,1;DP=9;ECNT=2;GERMQ=43;MBQ=31,32;MFRL=0,0;MMQ=60,60;MPOS=9;POPAF=7.3;TLOD=5.78 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,2:0.286:9:0,0:4,1:4,1:4,3,1,1 -chr1 1096160 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|4,2;DP=6;ECNT=1;GERMQ=58;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=60;POPAF=7.3;TLOD=22.56 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.833:6:0,0:0,4:0,4:0,0,4,2 -chr1 1096593 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1,1|1,1;DP=4;ECNT=1;GERMQ=37;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=65;POPAF=7.3;TLOD=6.78 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.5:4:0,0:1,1:1,1:1,1,1,1 -chr1 1096804 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=96;POPAF=7.3;TLOD=7.15 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1096900 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=1;ECNT=1;GERMQ=44;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=15;POPAF=7.3;TLOD=3.58 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 1098619 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=37;POPAF=7.3;TLOD=6.95 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1110480 . A T . base_qual;clustered_events;haplotype AS_FilterStatus=base_qual;AS_SB_TABLE=1,2|1,0;DP=4;ECNT=3;GERMQ=40;MBQ=34,14;MFRL=0,0;MMQ=60,60;MPOS=128;POPAF=7.3;TLOD=3.42 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:3,1:0.4:4:1,0:1,0:2,1:0|1:1110470_AA_CG:1110470:1,2,1,0 -chr1 1110490 . T A . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=1,2|1,0;DP=5;ECNT=3;GERMQ=40;MBQ=33,24;MFRL=0,0;MMQ=60,60;MPOS=118;POPAF=7.3;TLOD=3.38 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:3,1:0.396:4:1,0:1,1:2,1:0|1:1110470_AA_CG:1110470:1,2,1,0 -chr1 1110673 . T C . base_qual AS_FilterStatus=base_qual;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,19;MFRL=0,0;MMQ=60,60;MPOS=8;POPAF=7.3;TLOD=3.53 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1112230 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1,1|1,1;DP=4;ECNT=1;GERMQ=37;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=16;POPAF=7.3;TLOD=6.78 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.5:4:0,0:1,1:1,1:1,1,1,1 -chr1 1112351 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|1,2;DP=3;ECNT=2;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=39;POPAF=7.3;TLOD=10.75 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,0:0,1:0,2:0,0,1,2 -chr1 1112385 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=2;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=7;POPAF=7.3;TLOD=7.15 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1112865 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=3,2|1,1;DP=8;ECNT=4;GERMQ=40;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=115;POPAF=7.3;TLOD=6.02 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:5,2:0.334:7:0,0:3,1:3,1:3,2,1,1 -chr1 1112892 . T C . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=5,5|1,1;DP=12;ECNT=4;GERMQ=49;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=88;POPAF=7.3;TLOD=6.43 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:10,2:0.25:12:0,0:5,1:5,1:0|1:1112892_T_C:1112892:5,5,1,1 -chr1 1112897 . T C . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=5,5|1,1;DP=12;ECNT=4;GERMQ=49;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=83;POPAF=7.3;TLOD=6.43 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:10,2:0.25:12:0,0:5,1:5,1:0|1:1112892_T_C:1112892:5,5,1,1 -chr1 1113318 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=6,4|4,4;DP=19;ECNT=2;GERMQ=35;MBQ=32,34;MFRL=0,0;MMQ=60,60;MPOS=84;POPAF=7.3;TLOD=27.87 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:10,8:0.5:18:0,0:5,4:5,5:0|1:1113318_T_C:1113318:6,4,4,4 -chr1 1113322 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=9,8|1,1;DP=19;ECNT=2;GERMQ=64;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=47;POPAF=7.3;TLOD=5.41 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:17,2:0.167:19:0,0:9,1:9,1:0|1:1113318_T_C:1113318:9,8,1,1 -chr1 1113490 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2,3|1,1;DP=7;ECNT=2;GERMQ=40;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=110;POPAF=7.3;TLOD=6.15 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:5,2:0.333:7:1,0:2,1:3,1:2,3,1,1 -chr1 1113525 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2,4|1,1;DP=8;ECNT=2;GERMQ=42;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=137;POPAF=7.3;TLOD=5.98 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,2:0.286:8:1,0:2,1:4,1:2,4,1,1 -chr1 1114590 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5,5|1,1;DP=12;ECNT=1;GERMQ=49;MBQ=32,32;MFRL=0,0;MMQ=60,60;MPOS=30;POPAF=7.3;TLOD=5.73 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:10,2:0.25:12:0,0:4,1:5,1:5,5,1,1 -chr1 1130087 . T A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=67;POPAF=7.3;TLOD=6.85 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1143811 . T C . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=1;ECNT=3;GERMQ=44;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=73;POPAF=7.3;TLOD=4.2 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,1:0,0:0,1:0|1:1143811_T_C:1143811:0,0,0,1 -chr1 1143818 . T C . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=1;ECNT=3;GERMQ=44;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=66;POPAF=7.3;TLOD=4.2 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,1:0,0:0,1:0|1:1143811_T_C:1143811:0,0,0,1 -chr1 1143881 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=1;ECNT=3;GERMQ=44;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=3;POPAF=7.3;TLOD=3.27 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 1153882 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=101;POPAF=7.3;TLOD=7.55 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1158233 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,22;MFRL=0,0;MMQ=60,60;MPOS=104;POPAF=7.3;TLOD=4.03 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1158404 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1,1|1,1;DP=4;ECNT=1;GERMQ=37;MBQ=32,31;MFRL=0,0;MMQ=60,60;MPOS=97;POPAF=7.3;TLOD=6.38 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.5:4:0,0:1,1:1,1:1,1,1,1 -chr1 1160239 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|2,2;DP=4;ECNT=1;GERMQ=52;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=92;POPAF=7.3;TLOD=13.85 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 1160818 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1,1|1,1;DP=4;ECNT=1;GERMQ=37;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=29;POPAF=7.3;TLOD=6.68 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.5:4:0,0:1,1:1,1:1,1,1,1 -chr1 1161528 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=1;ECNT=1;GERMQ=44;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=41;POPAF=7.3;TLOD=3.58 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 1161720 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|2,1;DP=3;ECNT=1;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=108;POPAF=7.3;TLOD=8.04 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.744:3:0,0:0,1:0,2:0,0,2,1 -chr1 1161907 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|1,2;DP=3;ECNT=2;GERMQ=49;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=40;POPAF=7.3;TLOD=10.65 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,1:0,1:0,2:0,0,1,2 -chr1 1161955 . T G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=1;ECNT=2;GERMQ=44;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=3;POPAF=7.3;TLOD=3.28 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 1162557 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=1;ECNT=1;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=53;POPAF=7.3;TLOD=3.48 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 1162886 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=1,1|5,4;DP=11;ECNT=3;GERMQ=42;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=59;POPAF=7.3;TLOD=31.57 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,9:0.75:11:0,0:1,5:1,5:1,1,5,4 -chr1 1162960 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=11,9|1,1;DP=22;ECNT=3;GERMQ=71;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=90;POPAF=7.3;TLOD=5.23 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:20,2:0.125:22:0,0:11,1:13,1:11,9,1,1 -chr1 1163041 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|21,20;DP=44;ECNT=3;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=48;POPAF=7.3;TLOD=146.18 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,41:0.961:41:0,0:0,21:0,23:0,0,21,20 -chr1 1163178 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4,4|1,1;DP=11;ECNT=1;GERMQ=45;MBQ=34,32;MFRL=0,0;MMQ=60,60;MPOS=125;POPAF=7.3;TLOD=5.7 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:8,2:0.246:10:0,0:4,1:5,1:4,4,1,1 -chr1 1163531 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=12,5|1,1;DP=19;ECNT=1;GERMQ=64;MBQ=35,33;MFRL=0,0;MMQ=60,60;MPOS=47;POPAF=7.3;TLOD=5.2 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:17,2:0.134:19:0,0:11,1:12,1:12,5,1,1 -chr1 1163718 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=8,12|1,1;DP=22;ECNT=1;GERMQ=71;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=131;POPAF=7.3;TLOD=5.38 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:20,2:0.118:22:4,0:8,1:14,1:8,12,1,1 -chr1 1163962 . A C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|7,9;DP=21;ECNT=1;GERMQ=87;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=64;POPAF=7.3;TLOD=55.5 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,16:0.925:16:0,3:0,7:0,10:0,0,7,9 -chr1 1164679 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=9,9|1,1;DP=20;ECNT=1;GERMQ=66;MBQ=34,34;MFRL=0,0;MMQ=60,60;MPOS=40;POPAF=7.3;TLOD=5.63 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:18,2:0.154:20:1,0:9,1:10,1:9,9,1,1 -chr1 1164837 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|10,10;DP=22;ECNT=2;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=81;POPAF=7.3;TLOD=70.36 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,20:0.93:20:0,1:0,10:0,12:0,0,10,10 -chr1 1164939 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1,0|4,4;DP=10;ECNT=2;GERMQ=48;MBQ=29,33;MFRL=0,0;MMQ=60,60;MPOS=71;POPAF=7.3;TLOD=25.29 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,8:0.875:9:0,0:0,5:0,6:1,0,4,4 -chr1 1165623 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|11,10;DP=21;ECNT=2;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=66;POPAF=7.3;TLOD=77.06 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,21:0.933:21:0,1:0,11:0,13:0,0,11,10 -chr1 1165685 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=8,12|1,1;DP=23;ECNT=2;GERMQ=71;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=71;POPAF=7.3;TLOD=5.07 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:20,2:0.118:22:2,0:8,1:14,1:8,12,1,1 -chr1 1165943 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5,5|3,4;DP=17;ECNT=1;GERMQ=37;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=88;POPAF=7.3;TLOD=23.39 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:10,7:0.5:17:0,2:5,3:5,5:5,5,3,4 -chr1 1166689 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|6,5;DP=11;ECNT=1;GERMQ=72;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=89;POPAF=7.3;TLOD=40 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,11:0.875:11:0,0:0,6:0,6:0,0,6,5 -chr1 1167682 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4,4|1,1;DP=10;ECNT=2;GERMQ=45;MBQ=33,31;MFRL=0,0;MMQ=60,60;MPOS=58;POPAF=7.3;TLOD=5.68 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:8,2:0.286:10:0,0:4,1:4,1:4,4,1,1 -chr1 1167762 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4,4|1,1;DP=10;ECNT=2;GERMQ=45;MBQ=35,35;MFRL=0,0;MMQ=60,60;MPOS=13;POPAF=7.3;TLOD=6.48 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:8,2:0.286:10:0,0:4,1:4,1:4,4,1,1 -chr1 1168162 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=3;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=22;POPAF=7.3;TLOD=7.18 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.684:2:0,0:0,1:0,1:0,0,1,1 -chr1 1168578 . T G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|8,5;DP=13;ECNT=2;GERMQ=78;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=98;POPAF=7.3;TLOD=47.14 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,13:0.9:13:0,0:0,8:0,8:0,0,8,5 -chr1 1168643 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2,5|1,1;DP=11;ECNT=2;GERMQ=43;MBQ=35,33;MFRL=0,0;MMQ=60,60;MPOS=100;POPAF=7.3;TLOD=5.8 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,2:0.246:9:0,0:2,1:5,1:2,5,1,1 -chr1 1169204 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=36;POPAF=7.3;TLOD=7.35 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1169591 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,1|3,2;DP=6;ECNT=1;GERMQ=41;MBQ=29,31;MFRL=0,0;MMQ=60,60;MPOS=109;POPAF=7.3;TLOD=16.48 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,5:0.667:6:0,0:0,3:1,3:0,1,3,2 -chr1 1169858 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|1,2;DP=3;ECNT=1;GERMQ=49;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=123;POPAF=7.3;TLOD=10.75 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,1:0,1:0,2:0,0,1,2 -chr1 1205607 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=44;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=95;POPAF=7.3;TLOD=3.28 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 1217674 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=10,19|1,1;DP=31;ECNT=1;GERMQ=93;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=28;POPAF=7.3;TLOD=4.74 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:29,2:0.074:31:7,0:10,1:24,1:10,19,1,1 -chr1 1218523 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=28,29|1,1;DP=61;ECNT=1;GERMQ=93;MBQ=32,34;MFRL=0,0;MMQ=60,60;MPOS=79;POPAF=7.3;TLOD=4.6 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:57,2:0.057:59:4,0:28,1:32,1:28,29,1,1 -chr1 1221034 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2,4|1,1;DP=8;ECNT=1;GERMQ=42;MBQ=34,34;MFRL=0,0;MMQ=60,60;MPOS=75;POPAF=7.3;TLOD=6.18 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,2:0.286:8:1,0:2,1:4,1:2,4,1,1 -chr1 1221498 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,2|2,2;DP=6;ECNT=1;GERMQ=36;MBQ=32,35;MFRL=0,0;MMQ=60,60;MPOS=91;POPAF=7.3;TLOD=13.93 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,4:0.5:6:1,0:0,2:2,2:0,2,2,2 -chr1 1223251 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1,1|6,8;DP=26;ECNT=1;GERMQ=53;MBQ=31,33;MFRL=0,0;MMQ=60,60;MPOS=70;POPAF=7.3;TLOD=48.36 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,14:0.842:16:0,3:1,6:1,9:1,1,6,8 -chr1 1223932 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=14,9|1,1;DP=25;ECNT=1;GERMQ=78;MBQ=33,31;MFRL=0,0;MMQ=60,60;MPOS=48;POPAF=7.3;TLOD=4.67 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:23,2:0.105:25:2,0:14,1:16,1:14,9,1,1 -chr1 1224137 . T C . position AS_FilterStatus=position;AS_SB_TABLE=0,0|2,1;DP=3;ECNT=1;GERMQ=49;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=0;POPAF=7.3;TLOD=10.5 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,0:0,2:0,2:0,0,2,1 -chr1 1226946 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|2,2;DP=4;ECNT=1;GERMQ=52;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=46;POPAF=7.3;TLOD=14.43 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 1232278 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=6,6|1,1;DP=14;ECNT=1;GERMQ=53;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=6;POPAF=7.3;TLOD=5.51 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:12,2:0.222:14:0,0:6,1:6,1:6,6,1,1 -chr1 1232533 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=24,22|1,1;DP=50;ECNT=1;GERMQ=93;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=16;POPAF=7.3;TLOD=4.73 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:46,2:0.074:48:0,0:23,1:24,1:24,22,1,1 diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_somatic.snvs.vcf.gz b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_somatic.snvs.vcf.gz deleted file mode 100644 index 7a94008..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_somatic.snvs.vcf.gz and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_somatic.snvs.vcf.idx b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_somatic.snvs.vcf.idx deleted file mode 100644 index d6d3378..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_somatic.snvs.vcf.idx and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_somatic.snvs_augmented.vcf b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_somatic.snvs_augmented.vcf deleted file mode 100644 index 2aa3812..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_somatic.snvs_augmented.vcf +++ /dev/null @@ -1,569 +0,0 @@ -##fileformat=VCFv4.2 -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##GATKCommandLine= -##GATKCommandLine= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##MutectVersion=2.2 -##bcftools_concatCommand=concat -O z -a -o results/indel-test_SE/rnaseq/indel/mutect2/s001_variants.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr21_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr11_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr9_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr6_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr3_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr12_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr10_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrMT_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr13_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr8_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr14_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr5_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr2_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr22_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr19_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr20_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr17_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr18_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr16_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr7_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr4_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrX_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr1_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrY_flt.vcf.gz results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr15_flt.vcf.gz; Date=Sat May 18 04:41:18 2024 -##bcftools_concatVersion=1.9+htslib-1.9 -##bcftools_viewCommand=view -O z -o results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr21_flt.vcf.gz; Date=Sat May 18 04:20:51 2024 -##bcftools_viewVersion=1.9+htslib-1.9 -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##filtering_status=These calls have been filtered by FilterMutectCalls to label false positives with a list of failed filters and true positives with PASS. -##reference=file:///projects/b1171/sej9799/ScanNeo2_test/ScanNeo2/resources/refs/genome.fasta -##source=FilterMutectCalls -##source=SelectVariants -##tumor_sample=unknown -##INFO= -##INFO= -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT unknown -chrMT 9766 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=17%2C14|1%2C1;DP=33;ECNT=4;GERMQ=39;MBQ=34,33;MFRL=0,0;MMQ=41,36;MPOS=131;POPAF=7.3;TLOD=4.92;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:31,2:0.1:33:0,0:16,1:17,1:17,14,1,1 -chrMT 9771 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=16%2C13|1%2C1;DP=33;ECNT=4;GERMQ=34;MBQ=33,32;MFRL=0,0;MMQ=41,38;MPOS=121;POPAF=7.3;TLOD=4.86;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:29,2:0.104:31:0,0:16,1:16,1:16,13,1,1 -chrMT 9774 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=9%2C7|6%2C6;DP=31;ECNT=4;GERMQ=1;MBQ=32,33;MFRL=0,0;MMQ=42,41;MPOS=137;POPAF=7.3;TLOD=39.89;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:16,12:0.411:28:0,0:9,6:9,6:9,7,6,6 -chrMT 9780 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C1|1%2C1;DP=15;ECNT=4;GERMQ=1;MBQ=31,21;MFRL=0,0;MMQ=33,54;MPOS=141;POPAF=7.3;TLOD=3.34;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,2:0.5:3:0,0:0,0:1,1:0,1,1,1 -chr8 213370 . C G . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=3;GERMQ=1;MBQ=0,35;MFRL=0,0;MMQ=60,22;MPOS=73;POPAF=7.3;TLOD=5.05;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr8 213387 . C T . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=3;GERMQ=1;MBQ=0,33;MFRL=0,0;MMQ=60,22;MPOS=56;POPAF=7.3;TLOD=5.05;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr8 213438 . C T . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=3;GERMQ=1;MBQ=0,32;MFRL=0,0;MMQ=60,22;MPOS=5;POPAF=7.3;TLOD=5.05;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr2 130229486 . G A . clustered_events;haplotype;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|4%2C4;DP=8;ECNT=3;GERMQ=59;MBQ=0,32;MFRL=0,0;MMQ=60,26;MPOS=5;POPAF=7.3;TLOD=35.3;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,8:0.833:8:0,0:0,4:0,4:0|1:130229486_G_A:130229486:0,0,4,4 -chr2 130229492 . G A . clustered_events;haplotype;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|4%2C7;DP=12;ECNT=3;GERMQ=67;MBQ=0,32;MFRL=0,0;MMQ=60,21;MPOS=9;POPAF=7.3;TLOD=42.42;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,11:0.893:11:0,3:0,4:0,7:0|1:130229486_G_A:130229486:0,0,4,7 -chr2 130229520 . G A . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|6%2C11;DP=17;ECNT=3;GERMQ=85;MBQ=0,34;MFRL=0,0;MMQ=60,21;MPOS=28;POPAF=7.3;TLOD=45.76;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,17:0.923:17:0,4:0,6:0,11:0,0,6,11 -chr2 130229579 . T C . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|10%2C13;DP=25;ECNT=3;GERMQ=93;MBQ=0,34;MFRL=0,0;MMQ=60,20;MPOS=96;POPAF=7.3;TLOD=58.28;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,23:0.939:23:0,4:0,10:0,14:0,0,10,13 -chr2 130229607 . G C . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|2%2C7;DP=18;ECNT=3;GERMQ=62;MBQ=0,35;MFRL=0,0;MMQ=60,20;MPOS=115;POPAF=7.3;TLOD=21.45;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,9:0.906:9:0,3:0,2:0,7:0,0,2,7 -chr2 130229647 . A T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C6;DP=11;ECNT=3;GERMQ=65;MBQ=0,33;MFRL=0,0;MMQ=60,52;MPOS=10;POPAF=7.3;TLOD=33.32;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,10:0.88:10:0,2:0,4:0,6:0,0,4,6 -chr2 130229689 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|6%2C8;DP=14;ECNT=8;GERMQ=76;MBQ=0,33;MFRL=0,0;MMQ=60,50;MPOS=50;POPAF=7.3;TLOD=50.62;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,14:0.9:14:0,2:0,6:0,8:0,0,6,8 -chr2 130229709 . T G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|6%2C8;DP=14;ECNT=8;GERMQ=76;MBQ=0,33;MFRL=0,0;MMQ=60,50;MPOS=70;POPAF=7.3;TLOD=49.72;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,14:0.9:14:0,2:0,6:0,8:0,0,6,8 -chr2 130229735 . T G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|6%2C8;DP=14;ECNT=8;GERMQ=76;MBQ=0,33;MFRL=0,0;MMQ=60,50;MPOS=96;POPAF=7.3;TLOD=38.77;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,14:0.9:14:0,2:0,6:0,8:0,0,6,8 -chr2 130229747 . A G . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|7%2C10;DP=17;ECNT=8;GERMQ=85;MBQ=0,32;MFRL=0,0;MMQ=60,49;MPOS=105;POPAF=7.3;TLOD=75.46;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,17:0.917:17:0,3:0,7:0,10:0|1:130229747_A_G:130229747:0,0,7,10 -chr2 130229753 . G A . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|8%2C11;DP=19;ECNT=8;GERMQ=91;MBQ=0,33;MFRL=0,0;MMQ=60,49;MPOS=111;POPAF=7.3;TLOD=82.34;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,19:0.929:19:0,3:0,6:0,12:0|1:130229747_A_G:130229747:0,0,8,11 -chr2 130229756 . G A . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|8%2C11;DP=19;ECNT=8;GERMQ=91;MBQ=0,33;MFRL=0,0;MMQ=60,49;MPOS=111;POPAF=7.3;TLOD=82.34;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,19:0.929:19:0,4:0,8:0,12:0|1:130229747_A_G:130229747:0,0,8,11 -chr2 130229803 . G C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|7%2C9;DP=18;ECNT=8;GERMQ=82;MBQ=0,34;MFRL=0,0;MMQ=60,41;MPOS=27;POPAF=7.3;TLOD=57.79;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,16:0.935:16:0,6:0,7:0,13:0,0,7,9 -chr2 130229817 . C G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|11%2C11;DP=22;ECNT=8;GERMQ=93;MBQ=0,32;MFRL=0,0;MMQ=60,40;MPOS=30;POPAF=7.3;TLOD=78.38;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,22:0.947:22:0,6:0,11:0,17:0,0,11,11 -chr2 130229920 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|12%2C11;DP=27;ECNT=1;GERMQ=93;MBQ=0,32;MFRL=0,0;MMQ=60,40;MPOS=99;POPAF=7.3;TLOD=79.42;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,23:0.945:23:0,3:0,12:0,15:0,0,12,11 -chr2 130230633 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C5;DP=8;ECNT=5;GERMQ=59;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=17;POPAF=7.3;TLOD=26.65;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.874:8:0,2:0,3:0,6:0,0,3,5 -chr2 130230668 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|7%2C8;DP=15;ECNT=5;GERMQ=79;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=40;POPAF=7.3;TLOD=53.27;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,15:0.923:15:0,4:0,7:0,11:0,0,7,8 -chr2 130230679 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|7%2C8;DP=15;ECNT=5;GERMQ=79;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=51;POPAF=7.3;TLOD=46.42;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,15:0.922:15:0,2:0,7:0,11:0,0,7,8 -chr2 130230727 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|7%2C8;DP=15;ECNT=5;GERMQ=79;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=99;POPAF=7.3;TLOD=52.87;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,15:0.923:15:0,4:0,7:0,11:0,0,7,8 -chr2 130230790 . A G . clustered_events;map_qual;strand_bias;weak_evidence AS_FilterStatus=weak_evidence,map_qual,strand_bias;AS_SB_TABLE=0%2C0|2%2C1;DP=7;ECNT=5;GERMQ=44;MBQ=0,31;MFRL=0,0;MMQ=60,29;MPOS=142;POPAF=7.3;TLOD=8.82;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.825:3:0,0:0,2:0,3:0,0,2,1 -chr2 130230924 . A G . map_qual;weak_evidence AS_FilterStatus=weak_evidence,map_qual;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=2;GERMQ=41;MBQ=0,33;MFRL=0,0;MMQ=60,21;MPOS=32;POPAF=7.3;TLOD=4.85;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr2 130231008 . C T . map_qual;weak_evidence AS_FilterStatus=weak_evidence,map_qual;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=2;GERMQ=41;MBQ=0,33;MFRL=0,0;MMQ=60,21;MPOS=116;POPAF=7.3;TLOD=4.85;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr2 130231176 . C G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C5;DP=10;ECNT=6;GERMQ=59;MBQ=0,32;MFRL=0,0;MMQ=60,33;MPOS=6;POPAF=7.3;TLOD=26.98;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.864:8:0,2:0,3:0,5:0,0,3,5 -chr2 130231189 . T G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|5%2C7;DP=13;ECNT=6;GERMQ=70;MBQ=0,32;MFRL=0,0;MMQ=60,37;MPOS=15;POPAF=7.3;TLOD=41.57;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,12:0.893:12:0,2:0,5:0,7:0,0,5,7 -chr2 130231202 . C A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|6%2C10;DP=16;ECNT=6;GERMQ=82;MBQ=0,32;MFRL=0,0;MMQ=60,37;MPOS=26;POPAF=7.3;TLOD=56.65;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,16:0.917:16:0,4:0,6:0,10:0,0,6,10 -chr2 130231206 . C T . clustered_events;map_qual;strand_bias;weak_evidence AS_FilterStatus=weak_evidence,map_qual,strand_bias;AS_SB_TABLE=5%2C8|1%2C2;DP=16;ECNT=6;GERMQ=34;MBQ=33,31;MFRL=0,0;MMQ=40,29;MPOS=31;POPAF=7.3;TLOD=7.54;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:13,3:0.25:16:3,1:4,1:8,2:5,8,1,2 -chr2 130231240 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|6%2C10;DP=16;ECNT=6;GERMQ=82;MBQ=0,33;MFRL=0,0;MMQ=60,37;MPOS=64;POPAF=7.3;TLOD=54.65;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,16:0.917:16:0,4:0,6:0,10:0,0,6,10 -chr2 130231320 . G A . clustered_events;strand_bias;weak_evidence AS_FilterStatus=weak_evidence,strand_bias;AS_SB_TABLE=0%2C0|1%2C3;DP=7;ECNT=6;GERMQ=47;MBQ=0,32;MFRL=0,0;MMQ=60,40;MPOS=125;POPAF=7.3;TLOD=11.62;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.819:4:0,2:0,1:0,3:0,0,1,3 -chr2 131442793 . T C . clustered_events;haplotype;strand_bias AS_FilterStatus=strand_bias;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=6;GERMQ=44;MBQ=0,34;MFRL=0,0;MMQ=60,49;MPOS=78;POPAF=7.3;TLOD=13.02;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.75:3:0,1:0,1:0,2:0|1:131442793_T_C:131442793:0,0,1,2 -chr2 131442797 . C G . clustered_events;haplotype;strand_bias AS_FilterStatus=strand_bias;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=6;GERMQ=44;MBQ=0,34;MFRL=0,0;MMQ=60,49;MPOS=74;POPAF=7.3;TLOD=13.02;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.75:3:0,1:0,1:0,2:0|1:131442793_T_C:131442793:0,0,1,2 -chr2 131442810 . C T . clustered_events;haplotype;strand_bias AS_FilterStatus=strand_bias;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=6;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,49;MPOS=61;POPAF=7.3;TLOD=13.02;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.75:3:0,1:0,1:0,2:0|1:131442793_T_C:131442793:0,0,1,2 -chr2 131442829 . C T . clustered_events;haplotype;strand_bias AS_FilterStatus=strand_bias;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=6;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,49;MPOS=42;POPAF=7.3;TLOD=13.02;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.75:3:0,1:0,1:0,2:0|1:131442793_T_C:131442793:0,0,1,2 -chr2 131442842 . T C . clustered_events;haplotype;strand_bias AS_FilterStatus=strand_bias;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=6;GERMQ=44;MBQ=0,34;MFRL=0,0;MMQ=60,49;MPOS=29;POPAF=7.3;TLOD=13.02;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.75:3:0,1:0,1:0,2:0|1:131442793_T_C:131442793:0,0,1,2 -chr2 131442846 . A G . clustered_events;haplotype;strand_bias AS_FilterStatus=strand_bias;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=6;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,49;MPOS=25;POPAF=7.3;TLOD=13.02;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.75:3:0,1:0,1:0,2:0|1:131442793_T_C:131442793:0,0,1,2 -chr2 131443009 . A G . clustered_events;map_qual;strand_bias;weak_evidence AS_FilterStatus=weak_evidence,map_qual,strand_bias;AS_SB_TABLE=0%2C0|3%2C1;DP=5;ECNT=9;GERMQ=47;MBQ=0,32;MFRL=0,0;MMQ=60,28;MPOS=125;POPAF=7.3;TLOD=12.41;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.833:4:0,1:0,3:0,4:0,0,3,1 -chr2 131443024 . A G . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|3%2C3;DP=9;ECNT=9;GERMQ=53;MBQ=0,34;MFRL=0,0;MMQ=60,28;MPOS=110;POPAF=7.3;TLOD=19.15;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.864:6:0,2:0,3:0,5:0,0,3,3 -chr2 131443048 . G A . clustered_events;strand_bias;weak_evidence AS_FilterStatus=weak_evidence,strand_bias;AS_SB_TABLE=2%2C5|1%2C1;DP=9;ECNT=9;GERMQ=27;MBQ=33,33;MFRL=0,0;MMQ=29,38;MPOS=106;POPAF=7.3;TLOD=5.33;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,2:0.25:9:3,0:2,1:5,1:2,5,1,1 -chr2 131443052 . G T . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|3%2C6;DP=9;ECNT=9;GERMQ=62;MBQ=0,33;MFRL=0,0;MMQ=60,29;MPOS=105;POPAF=7.3;TLOD=32.74;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,9:0.875:9:0,3:0,3:0,6:0,0,3,6 -chr2 131443065 . A C . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|3%2C6;DP=9;ECNT=9;GERMQ=62;MBQ=0,32;MFRL=0,0;MMQ=60,29;MPOS=92;POPAF=7.3;TLOD=30.67;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,9:0.875:9:0,3:0,3:0,6:0,0,3,6 -chr2 131443078 . G C . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|3%2C6;DP=9;ECNT=9;GERMQ=62;MBQ=0,35;MFRL=0,0;MMQ=60,29;MPOS=79;POPAF=7.3;TLOD=31.1;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,9:0.875:9:0,3:0,3:0,6:0,0,3,6 -chr2 131443100 . G C . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|3%2C6;DP=9;ECNT=9;GERMQ=62;MBQ=0,34;MFRL=0,0;MMQ=60,29;MPOS=57;POPAF=7.3;TLOD=31.07;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,9:0.875:9:0,3:0,3:0,6:0,0,3,6 -chr2 131443144 . G A . clustered_events;haplotype;strand_bias AS_FilterStatus=strand_bias;AS_SB_TABLE=0%2C0|0%2C5;DP=5;ECNT=9;GERMQ=50;MBQ=0,32;MFRL=0,0;MMQ=60,32;MPOS=28;POPAF=7.3;TLOD=21.72;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,5:0.857:5:0,2:0,0:0,5:0|1:131443144_G_A:131443144:0,0,0,5 -chr2 131443146 . T G . clustered_events;haplotype;strand_bias AS_FilterStatus=strand_bias;AS_SB_TABLE=0%2C0|0%2C5;DP=5;ECNT=9;GERMQ=50;MBQ=0,35;MFRL=0,0;MMQ=60,32;MPOS=26;POPAF=7.3;TLOD=21.72;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,5:0.857:5:0,2:0,0:0,5:0|1:131443144_G_A:131443144:0,0,0,5 -chr2 131443797 . C G . clustered_events;haplotype;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=4;GERMQ=41;MBQ=0,33;MFRL=0,0;MMQ=60,47;MPOS=132;POPAF=7.3;TLOD=8.7;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,2:0.667:2:0,0:0,1:0,1:0|1:131443797_C_G:131443797:0,0,1,1 -chr2 131443801 . G A . clustered_events;haplotype;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=4;GERMQ=41;MBQ=0,33;MFRL=0,0;MMQ=60,47;MPOS=128;POPAF=7.3;TLOD=8.7;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,2:0.667:2:0,0:0,1:0,1:0|1:131443797_C_G:131443797:0,0,1,1 -chr2 131443807 . G A . clustered_events;haplotype;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=0%2C0|0%2C0;DP=4;ECNT=4;GERMQ=41;MBQ=0,33;MFRL=0,0;MMQ=60,47;MPOS=122;POPAF=7.3;TLOD=8.63;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,2:0.684:2:0,0:0,1:0,1:0|1:131443797_C_G:131443797:0,0,1,1 -chr2 131443869 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C3;DP=7;ECNT=4;GERMQ=56;MBQ=0,32;MFRL=0,0;MMQ=60,47;MPOS=60;POPAF=7.3;TLOD=21.83;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,7:0.833:7:0,0:0,4:0,4:0,0,4,3 -chr2 131443961 . G A . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|9%2C6;DP=15;ECNT=4;GERMQ=79;MBQ=0,33;MFRL=0,0;MMQ=60,34;MPOS=76;POPAF=7.3;TLOD=66.5;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,15:0.909:15:0,0:0,9:0,9:0|1:131443961_G_A:131443961:0,0,9,6 -chr2 131443973 . T A . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|9%2C6;DP=15;ECNT=4;GERMQ=79;MBQ=0,33;MFRL=0,0;MMQ=60,34;MPOS=64;POPAF=7.3;TLOD=66.5;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,15:0.909:15:0,0:0,9:0,9:0|1:131443961_G_A:131443961:0,0,9,6 -chr2 131444000 . A G . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|7%2C5;DP=12;ECNT=4;GERMQ=70;MBQ=0,34;MFRL=0,0;MMQ=60,38;MPOS=51;POPAF=7.3;TLOD=53.1;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,12:0.889:12:0,0:0,7:0,7:0|1:131444000_A_G:131444000:0,0,7,5 -chr2 131444009 . A G . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|7%2C5;DP=12;ECNT=4;GERMQ=70;MBQ=0,34;MFRL=0,0;MMQ=60,38;MPOS=42;POPAF=7.3;TLOD=53.1;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,12:0.889:12:0,0:0,6:0,7:0|1:131444000_A_G:131444000:0,0,7,5 -chr1 190768 . G A . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,22;MPOS=92;POPAF=7.3;TLOD=5.05;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 733895 . G T . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,21;MFRL=0,0;MMQ=60,25;MPOS=37;POPAF=7.3;TLOD=3.63;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 778051 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=1%2C2|1%2C1;DP=5;ECNT=3;GERMQ=38;MBQ=31,33;MFRL=0,0;MMQ=60,56;MPOS=55;POPAF=7.3;TLOD=6.38;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,2:0.4:5:0,0:1,1:2,1:1,2,1,1 -chr1 778906 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|2%2C1;DP=5;ECNT=2;GERMQ=37;MBQ=35,32;MFRL=0,0;MMQ=38,32;MPOS=45;POPAF=7.3;TLOD=9.25;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,3:0.6:5:0,0:1,2:1,2:1,1,2,1 -chr1 778984 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C0|1%2C1;DP=3;ECNT=2;GERMQ=38;MBQ=35,32;MFRL=0,0;MMQ=30,32;MPOS=123;POPAF=7.3;TLOD=6.37;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,2:0.5:3:0,0:1,1:1,1:1,0,1,1 -chr1 779196 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4%2C5|1%2C1;DP=11;ECNT=1;GERMQ=47;MBQ=33,33;MFRL=0,0;MMQ=53,60;MPOS=59;POPAF=7.3;TLOD=5.83;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:9,2:0.25:11:1,0:3,1:5,1:4,5,1,1 -chr1 779968 . T G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|5%2C6;DP=13;ECNT=1;GERMQ=72;MBQ=0,34;MFRL=0,0;MMQ=60,50;MPOS=65;POPAF=7.3;TLOD=39.07;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,11:0.88:11:0,1:0,5:0,6:0,0,5,6 -chr1 780634 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,29;MFRL=0,0;MMQ=60,32;MPOS=16;POPAF=7.3;TLOD=3.08;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 781047 . C T . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=2%2C2|1%2C1;DP=6;ECNT=1;GERMQ=39;MBQ=34,34;MFRL=0,0;MMQ=22,24;MPOS=82;POPAF=7.3;TLOD=4.67;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,2:0.4:6:0,0:2,1:2,1:2,2,1,1 -chr1 783175 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C1;DP=3;ECNT=1;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,32;MPOS=13;POPAF=7.3;TLOD=10.65;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,0:0,2:0,2:0,0,2,1 -chr1 794299 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,34;MPOS=52;POPAF=7.3;TLOD=7.35;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 797585 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=2;GERMQ=46;MBQ=0,32;MFRL=0,0;MMQ=60,31;MPOS=21;POPAF=7.3;TLOD=6.85;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 797609 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=2;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,31;MPOS=7;POPAF=7.3;TLOD=3.28;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,0:0,1:0,0,0,1 -chr1 817186 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|6%2C5;DP=12;ECNT=4;GERMQ=72;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=45;POPAF=7.3;TLOD=33.35;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,11:0.889:11:0,1:0,5:0,7:0,0,6,5 -chr1 817257 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=3%2C1|2%2C4;DP=10;ECNT=4;GERMQ=35;MBQ=31,34;MFRL=0,0;MMQ=45,60;MPOS=77;POPAF=7.3;TLOD=20.61;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,6:0.556:10:0,0:3,2:3,4:3,1,2,4 -chr1 818094 . C G . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|2%2C1;DP=3;ECNT=1;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,28;MPOS=26;POPAF=7.3;TLOD=9.35;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,0:0,2:0,2:0,0,2,1 -chr1 818802 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C2;DP=6;ECNT=2;GERMQ=58;MBQ=0,32;MFRL=0,0;MMQ=60,41;MPOS=94;POPAF=7.3;TLOD=26.3;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,6:0.833:6:0,0:0,4:0,4:0|1:818802_A_G:818802:0,0,4,2 -chr1 818812 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C2;DP=6;ECNT=2;GERMQ=58;MBQ=0,32;MFRL=0,0;MMQ=60,41;MPOS=85;POPAF=7.3;TLOD=26.3;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,6:0.833:6:0,0:0,4:0,4:0|1:818802_A_G:818802:0,0,4,2 -chr1 818954 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=1;GERMQ=49;MBQ=0,32;MFRL=0,0;MMQ=60,41;MPOS=53;POPAF=7.3;TLOD=10.35;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.8:3:0,2:0,1:0,3:0,0,1,2 -chr1 819123 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C3;DP=6;ECNT=1;GERMQ=58;MBQ=0,33;MFRL=0,0;MMQ=60,54;MPOS=85;POPAF=7.3;TLOD=21.26;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.833:6:0,1:0,3:0,4:0,0,3,3 -chr1 819584 . C T . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,32;MFRL=0,0;MMQ=60,21;MPOS=29;POPAF=7.3;TLOD=4.85;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 820395 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=111;POPAF=7.3;TLOD=7.35;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 821000 . T A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,29;MFRL=0,0;MMQ=60,60;MPOS=83;POPAF=7.3;TLOD=3.08;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 822354 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,28;MFRL=0,0;MMQ=60,60;MPOS=101;POPAF=7.3;TLOD=6.25;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 822764 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=122;POPAF=7.3;TLOD=7.15;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 822944 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=107;POPAF=7.3;TLOD=7.45;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 823246 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=102;POPAF=7.3;TLOD=7.02;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 825767 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=1;GERMQ=52;MBQ=0,34;MFRL=0,0;MMQ=60,45;MPOS=126;POPAF=7.3;TLOD=14.63;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 826352 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,31;MFRL=0,0;MMQ=60,44;MPOS=11;POPAF=7.3;TLOD=3.28;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 837375 . A C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,38;MPOS=93;POPAF=7.3;TLOD=7.25;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 838563 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,29;MFRL=0,0;MMQ=60,50;MPOS=78;POPAF=7.3;TLOD=3.08;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,0:0,1:0,0,0,1 -chr1 839356 . A C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,31;MFRL=0,0;MMQ=60,37;MPOS=121;POPAF=7.3;TLOD=6.68;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.75:2:0,2:0,0:0,2:0,0,0,2 -chr1 841462 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=19%2C19|1%2C1;DP=40;ECNT=1;GERMQ=93;MBQ=33,31;MFRL=0,0;MMQ=54,35;MPOS=38;POPAF=7.3;TLOD=4.35;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:38,2:0.083:40:2,0:19,1:21,1:19,19,1,1 -chr1 841742 . A T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|10%2C12;DP=26;ECNT=1;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,31;MPOS=70;POPAF=7.3;TLOD=72.93;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,22:0.93:22:0,0:0,10:0,12:0,0,10,12 -chr1 842714 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=18%2C13|1%2C1;DP=35;ECNT=1;GERMQ=93;MBQ=33,30;MFRL=0,0;MMQ=60,60;MPOS=51;POPAF=7.3;TLOD=4.29;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:31,2:0.09:33:1,0:18,1:19,1:18,13,1,1 -chr1 843189 . A G . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|11%2C13;DP=25;ECNT=1;GERMQ=93;MBQ=0,32;MFRL=0,0;MMQ=60,25;MPOS=95;POPAF=7.3;TLOD=73.31;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,24:0.941:24:0,4:0,11:0,15:0,0,11,13 -chr1 844097 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=12%2C9|1%2C1;DP=26;ECNT=1;GERMQ=74;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=47;POPAF=7.3;TLOD=5.37;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:21,2:0.13:23:0,0:12,1:12,1:12,9,1,1 -chr1 844647 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|5%2C3;DP=8;ECNT=1;GERMQ=63;MBQ=0,33;MFRL=0,0;MMQ=60,48;MPOS=31;POPAF=7.3;TLOD=29.04;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.857:8:0,0:0,5:0,5:0,0,5,3 -chr1 845405 . T A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C4;DP=8;ECNT=1;GERMQ=63;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=109;POPAF=7.3;TLOD=28.22;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.833:8:0,0:0,4:0,4:0,0,4,4 -chr1 846240 . A G . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=2%2C4|1%2C1;DP=8;ECNT=1;GERMQ=42;MBQ=32,31;MFRL=0,0;MMQ=22,21;MPOS=138;POPAF=7.3;TLOD=3.67;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,2:0.286:8:2,0:2,1:4,1:2,4,1,1 -chr1 849670 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C2;DP=5;ECNT=1;GERMQ=55;MBQ=0,33;MFRL=0,0;MMQ=60,44;MPOS=63;POPAF=7.3;TLOD=17.55;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.8:5:0,0:0,3:0,3:0,0,3,2 -chr1 850142 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=25;POPAF=7.3;TLOD=3.48;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 851882 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=1;GERMQ=52;MBQ=0,32;MFRL=0,0;MMQ=60,44;MPOS=26;POPAF=7.3;TLOD=13.4;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 852019 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|12%2C9;DP=24;ECNT=1;GERMQ=71;MBQ=31,33;MFRL=0,0;MMQ=60,44;MPOS=83;POPAF=7.3;TLOD=73.51;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,21:0.896:23:0,4:1,12:1,16:1,1,12,9 -chr1 852305 . G T . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,32;MFRL=0,0;MMQ=60,21;MPOS=66;POPAF=7.3;TLOD=4.85;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 853565 . G C . haplotype;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|0%2C0;DP=3;ECNT=2;GERMQ=46;MBQ=0,32;MFRL=0,0;MMQ=60,25;MPOS=128;POPAF=7.3;TLOD=8.47;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,2:0.764:2:0,0:0,1:0,2:0|1:853565_G_C:853565:0,0,1,1 -chr1 853572 . G A . haplotype;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=2;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,25;MPOS=135;POPAF=7.3;TLOD=8.52;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,2:0.75:2:0,0:0,1:0,2:0|1:853565_G_C:853565:0,0,1,1 -chr1 855801 . A G . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=4%2C10|1%2C1;DP=20;ECNT=1;GERMQ=57;MBQ=32,33;MFRL=0,0;MMQ=32,24;MPOS=104;POPAF=7.3;TLOD=3.54;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:14,2:0.141:16:4,0:4,1:11,1:4,10,1,1 -chr1 856029 . T C . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=9%2C5|1%2C1;DP=16;ECNT=1;GERMQ=57;MBQ=32,31;MFRL=0,0;MMQ=22,22;MPOS=130;POPAF=7.3;TLOD=3.31;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:14,2:0.167:16:0,0:9,1:9,1:9,5,1,1 -chr1 856666 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=19%2C15|1%2C1;DP=36;ECNT=3;GERMQ=93;MBQ=33,33;MFRL=0,0;MMQ=40,48;MPOS=26;POPAF=7.3;TLOD=4.89;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:34,2:0.087:36:0,0:18,1:20,1:19,15,1,1 -chr1 856691 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=20%2C15|1%2C1;DP=37;ECNT=3;GERMQ=93;MBQ=33,33;MFRL=0,0;MMQ=43,52;MPOS=79;POPAF=7.3;TLOD=4.81;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:35,2:0.08:37:0,0:20,1:22,1:20,15,1,1 -chr1 856716 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=18%2C13|1%2C1;DP=34;ECNT=3;GERMQ=93;MBQ=33,34;MFRL=0,0;MMQ=46,54;MPOS=89;POPAF=7.3;TLOD=5.01;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:31,2:0.08:33:0,0:18,1:22,1:18,13,1,1 -chr1 856883 . A G . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|4%2C5;DP=11;ECNT=1;GERMQ=66;MBQ=0,35;MFRL=0,0;MMQ=60,21;MPOS=102;POPAF=7.3;TLOD=22.37;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,9:0.906:9:0,4:0,4:0,8:0,0,4,5 -chr1 857100 . C T . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0%2C0|9%2C7;DP=16;ECNT=1;GERMQ=87;MBQ=0,32;MFRL=0,0;MMQ=60,21;MPOS=69;POPAF=7.3;TLOD=40.02;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,16:0.917:16:0,1:0,8:0,10:0,0,9,7 -chr1 857234 . T C . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=7%2C10|1%2C1;DP=19;ECNT=1;GERMQ=64;MBQ=33,34;MFRL=0,0;MMQ=24,23;MPOS=40;POPAF=7.3;TLOD=3.43;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:17,2:0.154:19:3,0:7,1:10,1:7,10,1,1 -chr1 859348 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C2|1%2C1;DP=5;ECNT=1;GERMQ=38;MBQ=33,24;MFRL=0,0;MMQ=43,36;MPOS=113;POPAF=7.3;TLOD=3.75;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,2:0.4:5:1,0:1,0:2,1:1,2,1,1 -chr1 897018 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,35;MFRL=0,0;MMQ=60,45;MPOS=106;POPAF=7.3;TLOD=7.05;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 901763 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C1;DP=4;ECNT=1;GERMQ=37;MBQ=34,34;MFRL=0,0;MMQ=60,60;MPOS=43;POPAF=7.3;TLOD=6.88;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.5:4:0,0:1,1:1,1:1,1,1,1 -chr1 902641 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=73;POPAF=7.3;TLOD=7.02;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 903007 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=2;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=51;POPAF=7.3;TLOD=7.45;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 904947 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C2|2%2C2;DP=9;ECNT=1;GERMQ=37;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=116;POPAF=7.3;TLOD=13.03;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:5,4:0.429:9:0,0:3,2:3,2:3,2,2,2 -chr1 905705 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C4|2%2C3;DP=13;ECNT=1;GERMQ=37;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=89;POPAF=7.3;TLOD=16.64;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,5:0.444:12:1,0:3,2:4,3:3,4,2,3 -chr1 906535 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=11%2C11|1%2C1;DP=24;ECNT=2;GERMQ=76;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=125;POPAF=7.3;TLOD=5.14;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:22,2:0.126:24:1,0:10,1:13,1:11,11,1,1 -chr1 906633 . T G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C3|2%2C2;DP=12;ECNT=2;GERMQ=37;MBQ=31,34;MFRL=0,0;MMQ=60,60;MPOS=78;POPAF=7.3;TLOD=12.47;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,4:0.427:10:0,0:3,2:3,2:3,3,2,2 -chr1 906982 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|8%2C8;DP=17;ECNT=2;GERMQ=87;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=40;POPAF=7.3;TLOD=64.21;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,16:0.909:16:0,0:0,8:0,9:0|1:906982_C_T:906982:0,0,8,8 -chr1 907022 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C4|5%2C4;DP=16;ECNT=2;GERMQ=35;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=89;POPAF=7.3;TLOD=29.02;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:7,9:0.583:16:0,0:3,5:4,6:0|1:906982_C_T:906982:3,4,5,4 -chr1 907445 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=91;POPAF=7.3;TLOD=7.35;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 908025 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C2|3%2C2;DP=9;ECNT=1;GERMQ=36;MBQ=31,32;MFRL=0,0;MMQ=60,60;MPOS=64;POPAF=7.3;TLOD=16.71;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,5:0.571:9:0,0:2,3:2,3:2,2,3,2 -chr1 908285 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C5|1%2C1;DP=9;ECNT=1;GERMQ=43;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=24;POPAF=7.3;TLOD=5.7;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,2:0.25:9:2,0:2,1:5,1:2,5,1,1 -chr1 909894 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|2%2C2;DP=6;ECNT=2;GERMQ=36;MBQ=34,31;MFRL=0,0;MMQ=60,60;MPOS=83;POPAF=7.3;TLOD=13.23;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:2,4:0.6:6:0,0:1,2:1,2:0|1:909894_G_T:909894:1,1,2,2 -chr1 909903 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C3;DP=6;ECNT=2;GERMQ=58;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=88;POPAF=7.3;TLOD=24.95;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,6:0.8:6:0,0:0,3:0,3:0|1:909894_G_T:909894:0,0,3,3 -chr1 910255 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|3%2C2;DP=7;ECNT=1;GERMQ=37;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=20;POPAF=7.3;TLOD=16.78;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,5:0.667:7:0,0:1,3:1,3:1,1,3,2 -chr1 910462 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4%2C5|1%2C1;DP=12;ECNT=1;GERMQ=47;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=128;POPAF=7.3;TLOD=5.71;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:9,2:0.222:11:1,0:4,1:6,1:4,5,1,1 -chr1 910558 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=6%2C5|3%2C3;DP=17;ECNT=1;GERMQ=39;MBQ=35,33;MFRL=0,0;MMQ=60,60;MPOS=60;POPAF=7.3;TLOD=16.9;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:11,6:0.498:17:0,1:5,3:5,5:6,5,3,3 -chr1 910698 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C2|1%2C2;DP=7;ECNT=1;GERMQ=37;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=93;POPAF=7.3;TLOD=9.55;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,3:0.571:7:0,1:2,1:2,3:2,2,1,2 -chr1 910958 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|7%2C4;DP=11;ECNT=5;GERMQ=72;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=58;POPAF=7.3;TLOD=42.05;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,11:0.889:11:0,0:0,7:0,7:0,0,7,4 -chr1 911018 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=4%2C3|6%2C5;DP=18;ECNT=5;GERMQ=35;MBQ=35,31;MFRL=0,0;MMQ=60,60;MPOS=24;POPAF=7.3;TLOD=33.25;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,11:0.583:18:1,0:3,6:4,6:4,3,6,5 -chr1 911033 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=9%2C8|1%2C1;DP=19;ECNT=5;GERMQ=64;MBQ=34,32;MFRL=0,0;MMQ=60,60;MPOS=140;POPAF=7.3;TLOD=5.31;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:17,2:0.167:19:1,0:8,1:9,1:9,8,1,1 -chr1 911109 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|8%2C10;DP=19;ECNT=5;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=90;POPAF=7.3;TLOD=66.49;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,18:0.925:18:0,1:0,7:0,11:0,0,8,10 -chr1 911219 . T G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5%2C5|1%2C1;DP=12;ECNT=2;GERMQ=49;MBQ=33,30;MFRL=0,0;MMQ=60,60;MPOS=25;POPAF=7.3;TLOD=5.33;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:10,2:0.25:12:0,0:5,1:5,1:0|1:911219_T_G:911219:5,5,1,1 -chr1 911848 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4%2C4|1%2C1;DP=10;ECNT=2;GERMQ=45;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=38;POPAF=7.3;TLOD=6.18;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:8,2:0.286:10:0,0:4,1:4,1:4,4,1,1 -chr1 911870 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|7%2C7;DP=14;ECNT=2;GERMQ=81;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=63;POPAF=7.3;TLOD=50.17;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,14:0.889:14:0,0:0,7:0,7:0,0,7,7 -chr1 912111 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C2|1%2C1;DP=7;ECNT=1;GERMQ=39;MBQ=34,32;MFRL=0,0;MMQ=60,60;MPOS=9;POPAF=7.3;TLOD=6.23;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,2:0.396:6:0,0:2,1:2,1:2,2,1,1 -chr1 912710 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C2;DP=6;ECNT=1;GERMQ=37;MBQ=32,34;MFRL=0,0;MMQ=60,60;MPOS=4;POPAF=7.3;TLOD=10.25;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,3:0.6:5:0,0:1,1:1,2:1,1,1,2 -chr1 913065 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=3%2C3|2%2C3;DP=11;ECNT=3;GERMQ=36;MBQ=32,31;MFRL=0,0;MMQ=60,60;MPOS=23;POPAF=7.3;TLOD=13.01;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,5:0.444:11:2,1:2,2:4,3:3,3,2,3 -chr1 913076 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=3%2C3|3%2C4;DP=13;ECNT=3;GERMQ=35;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=31;POPAF=7.3;TLOD=23.19;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,7:0.556:13:1,1:2,3:3,4:3,3,3,4 -chr1 913086 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=5%2C6|1%2C1;DP=13;ECNT=3;GERMQ=51;MBQ=35,32;MFRL=0,0;MMQ=60,60;MPOS=34;POPAF=7.3;TLOD=5.51;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:11,2:0.222:13:1,1:5,0:6,1:5,6,1,1 -chr1 913337 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=6%2C7|1%2C1;DP=16;ECNT=3;GERMQ=55;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=78;POPAF=7.3;TLOD=5.47;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:13,2:0.197:15:0,0:6,1:7,1:6,7,1,1 -chr1 913358 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=4%2C3|3%2C3;DP=14;ECNT=3;GERMQ=36;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=70;POPAF=7.3;TLOD=19.36;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,6:0.4:13:0,0:4,3:5,3:4,3,3,3 -chr1 914618 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C5;DP=10;ECNT=1;GERMQ=66;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=96;POPAF=7.3;TLOD=33.21;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,9:0.857:9:0,1:0,3:0,5:0,0,4,5 -chr1 914991 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=19;POPAF=7.3;TLOD=3.38;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 915810 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C3|6%2C4;DP=16;ECNT=2;GERMQ=35;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=78;POPAF=7.3;TLOD=48.47;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:6,10:0.636:16:0,0:3,6:3,6:0|1:915810_G_A:915810:3,3,6,4 -chr1 915824 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C3|7%2C7;DP=20;ECNT=2;GERMQ=39;MBQ=35,35;MFRL=0,0;MMQ=60,60;MPOS=82;POPAF=7.3;TLOD=55.04;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:6,14:0.667:20:0,0:3,7:3,7:0|1:915810_G_A:915810:3,3,7,7 -chr1 916119 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C1;DP=5;ECNT=1;GERMQ=55;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=32;POPAF=7.3;TLOD=17.69;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.833:5:0,0:0,4:0,4:0,0,4,1 -chr1 916254 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=6%2C8|1%2C1;DP=16;ECNT=1;GERMQ=57;MBQ=33,31;MFRL=0,0;MMQ=60,60;MPOS=131;POPAF=7.3;TLOD=5.2;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:14,2:0.182:16:2,0:6,1:8,1:6,8,1,1 -chr1 916377 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=1;GERMQ=52;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=28;POPAF=7.3;TLOD=14.71;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.8:4:0,1:0,2:0,3:0,0,2,2 -chr1 916657 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=2%2C2|6%2C7;DP=18;ECNT=3;GERMQ=42;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=87;POPAF=7.3;TLOD=45.17;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,13:0.692:17:1,1:2,6:3,8:2,2,6,7 -chr1 916683 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=3%2C3|4%2C5;DP=16;ECNT=3;GERMQ=35;MBQ=32,32;MFRL=0,0;MMQ=60,60;MPOS=90;POPAF=7.3;TLOD=30.17;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,9:0.546:15:1,1:3,4:4,5:3,3,4,5 -chr1 916753 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|5%2C7;DP=12;ECNT=3;GERMQ=75;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=78;POPAF=7.3;TLOD=43.87;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,12:0.9:12:0,1:0,5:0,8:0,0,5,7 -chr1 917166 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=11%2C8|1%2C1;DP=21;ECNT=1;GERMQ=69;MBQ=34,31;MFRL=0,0;MMQ=60,60;MPOS=122;POPAF=7.3;TLOD=4.86;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:19,2:0.143:21:0,0:11,1:11,1:11,8,1,1 -chr1 917284 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C3|2%2C3;DP=11;ECNT=2;GERMQ=36;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=65;POPAF=7.3;TLOD=15.64;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,5:0.444:11:1,1:3,2:4,3:3,3,2,3 -chr1 917378 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=8%2C6|4%2C1;DP=19;ECNT=2;GERMQ=45;MBQ=34,35;MFRL=0,0;MMQ=60,60;MPOS=73;POPAF=7.3;TLOD=15.48;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:14,5:0.333:19:1,0:8,4:9,4:8,6,4,1 -chr1 917495 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4%2C4|7%2C8;DP=23;ECNT=1;GERMQ=37;MBQ=34,32;MFRL=0,0;MMQ=60,60;MPOS=26;POPAF=7.3;TLOD=45.76;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:8,15:0.6:23:1,1:4,6:5,8:4,4,7,8 -chr1 917584 . T G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|8%2C5;DP=13;ECNT=1;GERMQ=78;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=97;POPAF=7.3;TLOD=47.3;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,13:0.909:13:0,1:0,8:0,9:0,0,8,5 -chr1 917859 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C4|3%2C3;DP=13;ECNT=1;GERMQ=36;MBQ=32,31;MFRL=0,0;MMQ=60,60;MPOS=68;POPAF=7.3;TLOD=15.85;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,6:0.4:13:2,0:3,3:5,3:3,4,3,3 -chr1 918443 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C0|2%2C2;DP=7;ECNT=1;GERMQ=36;MBQ=31,33;MFRL=0,0;MMQ=60,60;MPOS=96;POPAF=7.3;TLOD=13.13;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,4:0.571:6:0,0:2,2:2,3:2,0,2,2 -chr1 918574 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C2|2%2C3;DP=8;ECNT=1;GERMQ=36;MBQ=35,32;MFRL=0,0;MMQ=60,60;MPOS=20;POPAF=7.3;TLOD=16.2;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,5:0.571:8:1,1:1,2:2,3:1,2,2,3 -chr1 918870 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C2|2%2C2;DP=8;ECNT=2;GERMQ=36;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=80;POPAF=7.3;TLOD=13.53;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:4,4:0.429:8:0,0:2,2:3,2:0|1:918870_A_G:918870:2,2,2,2 -chr1 918888 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C2|1%2C1;DP=9;ECNT=2;GERMQ=40;MBQ=32,32;MFRL=0,0;MMQ=60,60;MPOS=81;POPAF=7.3;TLOD=5.92;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 1|0:5,2:0.329:7:0,0:3,1:3,1:1|0:918870_A_G:918870:3,2,1,1 -chr1 919297 . A T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C4|1%2C1;DP=9;ECNT=1;GERMQ=43;MBQ=32,31;MFRL=0,0;MMQ=60,60;MPOS=113;POPAF=7.3;TLOD=5.87;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,2:0.286:9:0,0:3,1:4,1:3,4,1,1 -chr1 919397 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|6%2C6;DP=14;ECNT=1;GERMQ=48;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=75;POPAF=7.3;TLOD=43.57;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,12:0.778:14:0,0:1,6:1,6:1,1,6,6 -chr1 919598 . A C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5%2C6|4%2C4;DP=19;ECNT=1;GERMQ=36;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=52;POPAF=7.3;TLOD=26.45;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:11,8:0.417:19:1,0:5,4:6,4:5,6,4,4 -chr1 919695 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C3|1%2C2;DP=8;ECNT=1;GERMQ=37;MBQ=35,34;MFRL=0,0;MMQ=60,60;MPOS=84;POPAF=7.3;TLOD=9.51;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,3:0.429:7:1,1:1,1:3,2:1,3,1,2 -chr1 920331 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=11%2C8|1%2C1;DP=22;ECNT=1;GERMQ=69;MBQ=35,30;MFRL=0,0;MMQ=60,60;MPOS=59;POPAF=7.3;TLOD=4.75;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:19,2:0.141:21:0,0:11,1:11,1:11,8,1,1 -chr1 920719 . T G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5%2C6|3%2C4;DP=18;ECNT=2;GERMQ=37;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=55;POPAF=7.3;TLOD=28.14;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:11,7:0.417:18:1,1:5,3:6,4:0|1:920719_T_G:920719:5,6,3,4 -chr1 920728 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5%2C6|3%2C4;DP=18;ECNT=2;GERMQ=37;MBQ=32,32;MFRL=0,0;MMQ=60,60;MPOS=61;POPAF=7.3;TLOD=28.14;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:11,7:0.417:18:1,1:5,3:6,4:0|1:920719_T_G:920719:5,6,3,4 -chr1 921096 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C2|2%2C1;DP=7;ECNT=2;GERMQ=37;MBQ=31,31;MFRL=0,0;MMQ=60,60;MPOS=58;POPAF=7.3;TLOD=7.0;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,3:0.5:7:0,0:2,2:2,2:2,2,2,1 -chr1 922226 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C2|1%2C1;DP=7;ECNT=1;GERMQ=40;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=80;POPAF=7.3;TLOD=6.25;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:5,2:0.333:7:0,0:3,1:3,1:3,2,1,1 -chr1 922348 . T G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C0|5%2C5;DP=11;ECNT=1;GERMQ=53;MBQ=31,34;MFRL=0,0;MMQ=60,60;MPOS=76;POPAF=7.3;TLOD=37.44;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,10:0.778:11:0,1:1,5:1,6:1,0,5,5 -chr1 922660 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C1;DP=3;ECNT=2;GERMQ=49;MBQ=0,29;MFRL=0,0;MMQ=60,60;MPOS=57;POPAF=7.3;TLOD=10.15;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,0:0,2:0,2:0,0,2,1 -chr1 922671 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C1;DP=3;ECNT=2;GERMQ=49;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=46;POPAF=7.3;TLOD=10.65;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,0:0,2:0,2:0,0,2,1 -chr1 923421 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=41;POPAF=7.3;TLOD=3.48;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 924024 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C3;DP=7;ECNT=1;GERMQ=60;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=90;POPAF=7.3;TLOD=25.34;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,7:0.833:7:0,0:0,4:0,4:0,0,4,3 -chr1 924305 . G A . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=3%2C2|1%2C2;DP=10;ECNT=4;GERMQ=38;MBQ=35,32;MFRL=0,0;MMQ=60,60;MPOS=112;POPAF=7.3;TLOD=11.69;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:5,3:0.427:8:0,1:3,1:3,2:0|1:924305_G_A:924305:3,2,1,2 -chr1 924310 . C G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C5;DP=9;ECNT=4;GERMQ=66;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=60;POPAF=7.3;TLOD=35.98;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,9:0.857:9:0,1:0,4:0,5:0,0,4,5 -chr1 924314 . C A . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=3%2C3|1%2C2;DP=12;ECNT=4;GERMQ=39;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=121;POPAF=7.3;TLOD=11.66;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:6,3:0.426:9:0,1:3,1:3,2:0|1:924305_G_A:924305:3,3,1,2 -chr1 924321 . C G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|8%2C7;DP=15;ECNT=4;GERMQ=84;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=12;POPAF=7.3;TLOD=58.21;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,15:0.909:15:0,1:0,7:0,9:0,0,8,7 -chr1 924533 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|11%2C14;DP=25;ECNT=1;GERMQ=93;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=85;POPAF=7.3;TLOD=91.24;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,25:0.937:25:0,2:0,11:0,14:0,0,11,14 -chr1 925036 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C2;DP=6;ECNT=2;GERMQ=37;MBQ=31,33;MFRL=0,0;MMQ=60,60;MPOS=53;POPAF=7.3;TLOD=10.25;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,3:0.6:5:0,0:1,1:1,2:1,1,1,2 -chr1 925081 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=2;GERMQ=49;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=98;POPAF=7.3;TLOD=10.15;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,0:0,1:0,2:0,0,1,2 -chr1 925628 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=1;GERMQ=52;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=100;POPAF=7.3;TLOD=15.23;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 926250 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C0|3%2C3;DP=7;ECNT=1;GERMQ=43;MBQ=28,33;MFRL=0,0;MMQ=60,60;MPOS=53;POPAF=7.3;TLOD=20.96;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,6:0.667:7:0,0:1,3:1,3:1,0,3,3 -chr1 926428 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C5;DP=10;ECNT=1;GERMQ=63;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=81;POPAF=7.3;TLOD=29.28;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.864:8:0,0:0,3:0,5:0,0,3,5 -chr1 926713 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C1;DP=3;ECNT=2;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=81;POPAF=7.3;TLOD=10.95;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,0:0,2:0,2:0,0,2,1 -chr1 926744 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=4;ECNT=2;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=57;POPAF=7.3;TLOD=7.08;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.684:2:0,0:0,1:0,1:0,0,1,1 -chr1 927003 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=2;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=57;POPAF=7.3;TLOD=13.02;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.75:3:0,1:0,1:0,2:0|1:927003_C_T:927003:0,0,1,2 -chr1 927009 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=2;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=63;POPAF=7.3;TLOD=13.02;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.75:3:0,1:0,1:0,2:0|1:927003_C_T:927003:0,0,1,2 -chr1 927443 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C4|1%2C1;DP=9;ECNT=2;GERMQ=43;MBQ=35,33;MFRL=0,0;MMQ=60,60;MPOS=57;POPAF=7.3;TLOD=5.98;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,2:0.286:9:0,0:3,1:4,1:3,4,1,1 -chr1 927486 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C4|2%2C2;DP=14;ECNT=2;GERMQ=37;MBQ=32,32;MFRL=0,0;MMQ=60,60;MPOS=70;POPAF=7.3;TLOD=12.43;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,4:0.372:10:0,0:2,2:4,2:2,4,2,2 -chr1 927744 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|6%2C5;DP=11;ECNT=1;GERMQ=72;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=67;POPAF=7.3;TLOD=40.47;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,11:0.875:11:0,0:0,6:0,6:0,0,6,5 -chr1 928176 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=2;GERMQ=44;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=132;POPAF=7.3;TLOD=4.2;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,1:0,0:0,1:0|1:928176_G_A:928176:0,0,0,1 -chr1 928182 . A C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=2;GERMQ=44;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=138;POPAF=7.3;TLOD=4.2;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,1:0,0:0,1:0|1:928176_G_A:928176:0,0,0,1 -chr1 928622 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=1;GERMQ=49;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=61;POPAF=7.3;TLOD=10.45;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,1:0,1:0,2:0,0,1,2 -chr1 929346 . T A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=4;ECNT=3;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=107;POPAF=7.3;TLOD=10.73;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.8:3:0,1:0,1:0,3:0,0,1,2 -chr1 929375 . A G . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=3;GERMQ=49;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=39;POPAF=7.3;TLOD=13.02;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.75:3:0,1:0,1:0,2:0|1:929375_A_G:929375:0,0,1,2 -chr1 929377 . G A . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=3;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=41;POPAF=7.3;TLOD=13.02;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.75:3:0,1:0,1:0,2:0|1:929375_A_G:929375:0,0,1,2 -chr1 929839 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=38;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=140;POPAF=7.3;TLOD=3.15;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,1:0.5:2:0,0:1,1:1,1:1,0,1,0 -chr1 930939 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=57;POPAF=7.3;TLOD=7.25;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 931513 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=1%2C0|1%2C1;DP=3;ECNT=3;GERMQ=38;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=84;POPAF=7.3;TLOD=6.58;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,2:0.5:3:0,0:1,1:1,1:1,0,1,1 -chr1 931540 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=3;GERMQ=52;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=114;POPAF=7.3;TLOD=14.23;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 931558 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=2%2C1|2%2C1;DP=6;ECNT=3;GERMQ=37;MBQ=32,32;MFRL=0,0;MMQ=60,60;MPOS=99;POPAF=7.3;TLOD=9.35;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,3:0.5:6:0,0:2,2:2,2:2,1,2,1 -chr1 932204 . A T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=2;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=28;POPAF=7.3;TLOD=3.48;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 932255 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|2%2C1;DP=5;ECNT=2;GERMQ=37;MBQ=33,31;MFRL=0,0;MMQ=60,60;MPOS=101;POPAF=7.3;TLOD=9.65;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,3:0.6:5:0,0:1,2:1,2:1,1,2,1 -chr1 932512 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C1|1%2C1;DP=3;ECNT=1;GERMQ=38;MBQ=31,33;MFRL=0,0;MMQ=60,60;MPOS=104;POPAF=7.3;TLOD=6.45;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,2:0.5:3:1,0:0,1:1,1:0,1,1,1 -chr1 933511 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=2;GERMQ=46;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=73;POPAF=7.3;TLOD=7.55;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 936972 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=1;GERMQ=52;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=98;POPAF=7.3;TLOD=14.73;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 938222 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=3;POPAF=7.3;TLOD=7.05;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 938650 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=147;POPAF=7.3;TLOD=3.28;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 939038 . A C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=19;POPAF=7.3;TLOD=7.15;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 939864 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C2|1%2C1;DP=6;ECNT=1;GERMQ=39;MBQ=35,31;MFRL=0,0;MMQ=60,60;MPOS=49;POPAF=7.3;TLOD=5.97;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,2:0.4:6:0,0:2,1:2,1:2,2,1,1 -chr1 941119 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=21;POPAF=7.3;TLOD=7.31;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 941767 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4%2C4|2%2C2;DP=12;ECNT=1;GERMQ=39;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=77;POPAF=7.3;TLOD=12.66;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:8,4:0.375:12:0,0:4,2:4,2:4,4,2,2 -chr1 942335 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=43;POPAF=7.3;TLOD=7.15;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 942451 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C1;DP=5;ECNT=1;GERMQ=55;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=45;POPAF=7.3;TLOD=18.09;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.833:5:0,0:0,4:0,4:0,0,4,1 -chr1 943946 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=25%2C21|1%2C1;DP=48;ECNT=1;GERMQ=93;MBQ=34,32;MFRL=0,0;MMQ=60,60;MPOS=117;POPAF=7.3;TLOD=4.44;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:46,2:0.067:48:2,0:25,1:27,1:25,21,1,1 -chr1 944296 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|55%2C48;DP=106;ECNT=3;GERMQ=93;MBQ=29,32;MFRL=0,0;MMQ=60,60;MPOS=89;POPAF=7.3;TLOD=367.81;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,103:0.984:105:0,0:0,55:0,60:1,1,55,48 -chr1 944307 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|55%2C51;DP=107;ECNT=3;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=85;POPAF=7.3;TLOD=398.76;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,106:0.984:106:0,0:0,55:0,62:0,0,55,51 -chr1 944573 . T A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=34%2C39|1%2C1;DP=82;ECNT=1;GERMQ=93;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=112;POPAF=7.3;TLOD=4.03;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:73,2:0.043:75:9,0:34,1:43,1:34,39,1,1 -chr1 944722 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=26%2C29|1%2C1;DP=59;ECNT=1;GERMQ=93;MBQ=33,34;MFRL=0,0;MMQ=59,60;MPOS=22;POPAF=7.3;TLOD=4.74;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:55,2:0.06:57:3,0:26,1:30,1:26,29,1,1 -chr1 944858 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=1;GERMQ=52;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=67;POPAF=7.3;TLOD=14.83;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 945827 . A T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5%2C3|1%2C1;DP=10;ECNT=1;GERMQ=45;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=45;POPAF=7.3;TLOD=5.83;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:8,2:0.25:10:0,0:5,1:5,1:5,3,1,1 -chr1 946247 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C2|1%2C1;DP=6;ECNT=1;GERMQ=39;MBQ=34,33;MFRL=0,0;MMQ=60,39;MPOS=45;POPAF=7.3;TLOD=6.15;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,2:0.333:6:1,0:2,1:3,1:2,2,1,1 -chr1 946538 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C2|1%2C1;DP=6;ECNT=1;GERMQ=39;MBQ=33,34;MFRL=0,0;MMQ=60,31;MPOS=10;POPAF=7.3;TLOD=4.87;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,2:0.5:6:0,1:2,1:2,2:2,2,1,1 -chr1 947371 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C1|1%2C1;DP=6;ECNT=2;GERMQ=39;MBQ=32,34;MFRL=0,0;MMQ=60,60;MPOS=37;POPAF=7.3;TLOD=6.35;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,2:0.333:6:0,0:3,1:3,1:3,1,1,1 -chr1 947423 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|5%2C3;DP=9;ECNT=2;GERMQ=63;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=97;POPAF=7.3;TLOD=29.94;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.857:8:0,0:0,5:0,5:0,0,5,3 -chr1 948245 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=59;POPAF=7.3;TLOD=3.48;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 948711 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C2;DP=5;ECNT=1;GERMQ=55;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=109;POPAF=7.3;TLOD=18.88;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.8:5:0,0:0,3:0,3:0,0,3,2 -chr1 949435 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=1;GERMQ=52;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=46;POPAF=7.3;TLOD=14.43;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 949628 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C2|1%2C1;DP=6;ECNT=1;GERMQ=39;MBQ=33,31;MFRL=0,0;MMQ=60,60;MPOS=78;POPAF=7.3;TLOD=5.97;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,2:0.4:6:0,0:2,1:2,1:2,2,1,1 -chr1 950319 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=128;POPAF=7.3;TLOD=7.25;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 952421 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=8;ECNT=1;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,42;MPOS=142;POPAF=7.3;TLOD=10.9;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.787:3:0,1:0,1:0,2:0,0,1,2 -chr1 952567 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=13%2C15|1%2C1;DP=31;ECNT=1;GERMQ=91;MBQ=32,30;MFRL=0,0;MMQ=48,53;MPOS=12;POPAF=7.3;TLOD=4.46;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:28,2:0.104:30:3,0:13,1:16,1:13,15,1,1 -chr1 953259 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C4;DP=6;ECNT=2;GERMQ=58;MBQ=0,33;MFRL=0,0;MMQ=60,54;MPOS=114;POPAF=7.3;TLOD=17.66;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.855:6:0,2:0,2:0,5:0,0,2,4 -chr1 953279 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C4;DP=5;ECNT=2;GERMQ=55;MBQ=0,34;MFRL=0,0;MMQ=60,48;MPOS=108;POPAF=7.3;TLOD=17.3;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.857:5:0,3:0,1:0,5:0,0,1,4 -chr1 954258 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|5%2C6;DP=12;ECNT=2;GERMQ=72;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=40;POPAF=7.3;TLOD=40.72;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,11:0.893:11:0,1:0,5:0,7:0,0,5,6 -chr1 954333 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|9%2C7;DP=17;ECNT=2;GERMQ=87;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=88;POPAF=7.3;TLOD=56.99;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,16:0.917:16:0,0:0,9:0,10:0,0,9,7 -chr1 954574 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=1;GERMQ=52;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=94;POPAF=7.3;TLOD=15.23;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 955384 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=6%2C7|1%2C1;DP=17;ECNT=1;GERMQ=55;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=73;POPAF=7.3;TLOD=5.6;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:13,2:0.182:15:0,0:6,1:8,1:6,7,1,1 -chr1 955641 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C4;DP=9;ECNT=2;GERMQ=63;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=36;POPAF=7.3;TLOD=25.25;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.841:8:0,0:0,4:0,4:0,0,4,4 -chr1 955679 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|2%2C1;DP=5;ECNT=2;GERMQ=37;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=28;POPAF=7.3;TLOD=9.92;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,3:0.6:5:0,0:1,2:1,2:1,1,2,1 -chr1 956565 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C2|2%2C2;DP=6;ECNT=1;GERMQ=36;MBQ=31,33;MFRL=0,0;MMQ=60,60;MPOS=38;POPAF=7.3;TLOD=13.13;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,4:0.572:6:1,1:0,2:2,3:0,2,2,2 -chr1 957365 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|6%2C6;DP=12;ECNT=1;GERMQ=75;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=82;POPAF=7.3;TLOD=42.72;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,12:0.889:12:0,1:0,6:0,7:0,0,6,6 -chr1 957900 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|5%2C6;DP=13;ECNT=1;GERMQ=72;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=64;POPAF=7.3;TLOD=39.58;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,11:0.88:11:0,0:0,5:0,6:0,0,5,6 -chr1 959193 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=1;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=14;POPAF=7.3;TLOD=10.63;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,0:0,1:0,2:0,0,1,2 -chr1 960891 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=1;GERMQ=49;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=98;POPAF=7.3;TLOD=10.55;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,1:0,1:0,2:0,0,1,2 -chr1 961096 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C4;DP=8;ECNT=1;GERMQ=60;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=87;POPAF=7.3;TLOD=24.13;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,7:0.864:7:0,1:0,3:0,5:0,0,3,4 -chr1 961945 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|11%2C14;DP=26;ECNT=2;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=81;POPAF=7.3;TLOD=95.02;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,25:0.941:25:0,3:0,11:0,15:0,0,11,14 -chr1 962001 . T A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5%2C7|1%2C1;DP=14;ECNT=2;GERMQ=53;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=134;POPAF=7.3;TLOD=5.5;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:12,2:0.2:14:0,0:5,1:7,1:5,7,1,1 -chr1 962184 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|5%2C3;DP=10;ECNT=1;GERMQ=63;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=27;POPAF=7.3;TLOD=29.35;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.864:8:0,0:0,5:0,5:0,0,5,3 -chr1 962943 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=81;POPAF=7.3;TLOD=7.35;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 964218 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C1|1%2C1;DP=5;ECNT=1;GERMQ=38;MBQ=35,30;MFRL=0,0;MMQ=60,60;MPOS=90;POPAF=7.3;TLOD=5.45;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,2:0.4:5:0,0:2,1:2,1:2,1,1,1 -chr1 965125 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=7%2C6|9%2C8;DP=30;ECNT=1;GERMQ=34;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=72;POPAF=7.3;TLOD=58.41;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:13,17:0.6:30:0,2:7,9:7,11:7,6,9,8 -chr1 965350 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|11%2C11;DP=23;ECNT=2;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=72;POPAF=7.3;TLOD=92.19;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,22:0.937:22:0,0:0,11:0,14:0|1:965337_CTTAT_C:965337:0,0,11,11 -chr1 965592 . T G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|10%2C11;DP=24;ECNT=4;GERMQ=93;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=22;POPAF=7.3;TLOD=80.81;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,21:0.927:21:0,1:0,10:0,11:0,0,10,11 -chr1 965615 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=10%2C11|1%2C1;DP=23;ECNT=4;GERMQ=74;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=119;POPAF=7.3;TLOD=5.36;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:21,2:0.143:23:1,0:10,1:11,1:10,11,1,1 -chr1 965643 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|10%2C11;DP=21;ECNT=4;GERMQ=93;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=72;POPAF=7.3;TLOD=78.84;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,21:0.923:21:0,1:0,10:0,11:0,0,10,11 -chr1 966179 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=4;ECNT=3;GERMQ=46;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=17;POPAF=7.3;TLOD=3.21;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.684:2:0,0:0,1:0,1:0,0,1,1 -chr1 966227 . C G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=3;GERMQ=52;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=69;POPAF=7.3;TLOD=14.43;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 966272 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=3;GERMQ=52;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=24;POPAF=7.3;TLOD=14.83;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 966665 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=2;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=113;POPAF=7.3;TLOD=7.45;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 966770 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C1;DP=4;ECNT=2;GERMQ=37;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=124;POPAF=7.3;TLOD=6.66;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.5:4:0,0:1,1:1,1:1,1,1,1 -chr1 967384 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C1;DP=4;ECNT=2;GERMQ=52;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=53;POPAF=7.3;TLOD=17.4;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,4:0.8:4:0,0:0,3:0,3:0|1:967376_AC_A:967376:0,0,3,1 -chr1 968841 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C1;DP=4;ECNT=1;GERMQ=37;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=113;POPAF=7.3;TLOD=6.68;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.5:4:0,0:1,1:1,1:1,1,1,1 -chr1 970005 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C0|1%2C1;DP=4;ECNT=1;GERMQ=37;MBQ=34,29;MFRL=0,0;MMQ=41,60;MPOS=43;POPAF=7.3;TLOD=5.57;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.4:4:0,0:2,1:2,1:2,0,1,1 -chr1 970874 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C1|1%2C1;DP=3;ECNT=1;GERMQ=38;MBQ=32,29;MFRL=0,0;MMQ=60,60;MPOS=90;POPAF=7.3;TLOD=5.97;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,2:0.5:3:1,0:0,1:1,1:0,1,1,1 -chr1 971513 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C0|1%2C1;DP=3;ECNT=1;GERMQ=38;MBQ=32,30;MFRL=0,0;MMQ=60,60;MPOS=3;POPAF=7.3;TLOD=6.18;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,2:0.5:3:0,0:1,1:1,1:1,0,1,1 -chr1 973841 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=52;POPAF=7.3;TLOD=3.58;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 973929 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C1;DP=4;ECNT=1;GERMQ=37;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=115;POPAF=7.3;TLOD=6.98;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.5:4:0,0:1,1:1,1:1,1,1,1 -chr1 974388 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=110;POPAF=7.3;TLOD=7.05;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 975139 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=67;POPAF=7.3;TLOD=3.25;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 975447 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=4%2C2|1%2C2;DP=9;ECNT=3;GERMQ=39;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=136;POPAF=7.3;TLOD=6.28;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,3:0.286:9:0,0:4,1:4,1:4,2,1,2 -chr1 975523 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=3%2C3|3%2C2;DP=11;ECNT=3;GERMQ=36;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=18;POPAF=7.3;TLOD=16.54;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,5:0.5:11:0,0:3,3:3,3:3,3,3,2 -chr1 976215 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5%2C7|3%2C3;DP=20;ECNT=1;GERMQ=40;MBQ=32,34;MFRL=0,0;MMQ=60,60;MPOS=65;POPAF=7.3;TLOD=19.72;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:12,6:0.332:18:1,0:5,3:7,3:5,7,3,3 -chr1 997238 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=94;POPAF=7.3;TLOD=6.98;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.75:2:0,0:0,2:0,2:0,0,2,0 -chr1 997987 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,28;MFRL=0,0;MMQ=60,60;MPOS=94;POPAF=7.3;TLOD=6.25;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 999005 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=33%2C28|28%2C18;DP=108;ECNT=2;GERMQ=36;MBQ=34,32;MFRL=0,0;MMQ=60,60;MPOS=124;POPAF=7.3;TLOD=151.05;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:61,46:0.46:107:0,0:33,28:33,28:33,28,28,18 -chr1 999577 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=25%2C28|1%2C1;DP=55;ECNT=1;GERMQ=93;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=84;POPAF=7.3;TLOD=4.24;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:53,2:0.048:55:13,0:25,1:39,1:25,28,1,1 -chr1 999842 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4%2C5|18%2C20;DP=52;ECNT=1;GERMQ=69;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=39;POPAF=7.3;TLOD=126.5;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:9,38:0.818:47:0,2:3,17:5,24:4,5,18,20 -chr1 1000079 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|40%2C48;DP=90;ECNT=4;GERMQ=93;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=19;POPAF=7.3;TLOD=338.09;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,88:0.981:88:0,8:0,40:0,49:0,0,40,48 -chr1 1000112 . G T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|9%2C10;DP=29;ECNT=4;GERMQ=93;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=42;POPAF=7.3;TLOD=64.39;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,19:0.929:19:0,0:0,8:0,10:0,0,9,10 -chr1 1000134 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=8%2C8|1%2C1;DP=18;ECNT=4;GERMQ=62;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=112;POPAF=7.3;TLOD=5.51;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:16,2:0.167:18:0,0:8,1:9,1:8,8,1,1 -chr1 1000207 . C G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=14%2C11|1%2C1;DP=29;ECNT=4;GERMQ=83;MBQ=33,29;MFRL=0,0;MMQ=60,60;MPOS=73;POPAF=7.3;TLOD=4.36;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:25,2:0.116:27:0,0:14,1:14,1:14,11,1,1 -chr1 1000335 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=7%2C7|8%2C6;DP=29;ECNT=1;GERMQ=34;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=31;POPAF=7.3;TLOD=45.17;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:14,14:0.5:28:2,1:7,8:9,9:7,7,8,6 -chr1 1000453 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|19%2C14;DP=37;ECNT=1;GERMQ=93;MBQ=22,32;MFRL=0,0;MMQ=60,60;MPOS=72;POPAF=7.3;TLOD=117.94;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,33:0.918:35:0,2:1,19:1,21:1,1,19,14 -chr1 1000731 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=10%2C14|13%2C14;DP=51;ECNT=3;GERMQ=32;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=86;POPAF=7.3;TLOD=86.76;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:24,27:0.5:51:4,1:10,12:14,14:10,14,13,14 -chr1 1000814 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|14%2C20;DP=34;ECNT=3;GERMQ=93;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=11;POPAF=7.3;TLOD=127.94;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,34:0.957:34:0,1:0,14:0,21:0,0,14,20 -chr1 1000830 . C A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|7%2C9;DP=18;ECNT=3;GERMQ=87;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=25;POPAF=7.3;TLOD=57.77;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,16:0.919:16:0,0:0,7:0,10:0,0,7,9 -chr1 1001107 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=61;POPAF=7.3;TLOD=7.35;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1002308 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=20;POPAF=7.3;TLOD=7.65;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1009083 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C1;DP=4;ECNT=1;GERMQ=37;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=30;POPAF=7.3;TLOD=6.65;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.5:4:0,0:1,1:1,1:1,1,1,1 -chr1 1012158 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C3;DP=5;ECNT=1;GERMQ=55;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=53;POPAF=7.3;TLOD=17.15;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.8:5:0,1:0,2:0,3:0,0,2,3 -chr1 1013312 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C1;DP=4;ECNT=1;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=59;POPAF=7.3;TLOD=10.65;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,0:0,2:0,2:0,0,2,1 -chr1 1013490 . C G . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C1;DP=4;ECNT=3;GERMQ=52;MBQ=0,30;MFRL=0,0;MMQ=60,60;MPOS=77;POPAF=7.3;TLOD=17.4;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,4:0.8:4:0,0:0,3:0,3:0|1:1013466_T_TA:1013466:0,0,3,1 -chr1 1013541 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|46%2C3;DP=52;ECNT=3;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=28;POPAF=7.3;TLOD=179.34;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,49:0.98:49:0,0:0,46:0,47:0,0,46,3 -chr1 1013855 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C6;DP=12;ECNT=1;GERMQ=69;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=77;POPAF=7.3;TLOD=35.6;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,10:0.88:10:0,1:0,4:0,6:0,0,4,6 -chr1 1014228 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=122%2C149|32%2C42;DP=366;ECNT=2;GERMQ=93;MBQ=34,32;MFRL=0,0;MMQ=60,60;MPOS=72;POPAF=7.3;TLOD=216.65;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:271,74:0.243:345:30,16:122,32:161,51:122,149,32,42 -chr1 1014274 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|145%2C150;DP=303;ECNT=2;GERMQ=93;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=94;POPAF=7.3;TLOD=1139.03;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,295:0.995:295:0,11:0,143:0,180:0,0,145,150 -chr1 1014545 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C1;DP=4;ECNT=1;GERMQ=52;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=111;POPAF=7.3;TLOD=13.91;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.8:4:0,0:0,3:0,3:0,0,3,1 -chr1 1019636 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=50;POPAF=7.3;TLOD=7.45;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1019833 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=115;POPAF=7.3;TLOD=7.48;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.75:2:0,1:0,0:0,2:0,0,0,2 -chr1 1020217 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|19%2C17;DP=36;ECNT=1;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=42;POPAF=7.3;TLOD=131.67;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,36:0.952:36:0,0:0,19:0,19:0,0,19,17 -chr1 1021740 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C4;DP=6;ECNT=1;GERMQ=58;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=97;POPAF=7.3;TLOD=22.18;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.857:6:0,1:0,2:0,5:0,0,2,4 -chr1 1022388 . A T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=15%2C20|1%2C1;DP=37;ECNT=1;GERMQ=93;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=136;POPAF=7.3;TLOD=4.79;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:35,2:0.087:37:4,0:15,1:20,1:15,20,1,1 -chr1 1023525 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=126;POPAF=7.3;TLOD=3.58;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 1026830 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=37;POPAF=7.3;TLOD=7.15;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1031917 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=64;POPAF=7.3;TLOD=7.35;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1035987 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C1;DP=3;ECNT=1;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=8;POPAF=7.3;TLOD=10.75;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,0:0,2:0,2:0,0,2,1 -chr1 1036754 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=3;ECNT=1;GERMQ=46;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=47;POPAF=7.3;TLOD=6.78;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.75:2:0,0:0,2:0,2:0,0,2,0 -chr1 1037505 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C5|1%2C1;DP=9;ECNT=1;GERMQ=43;MBQ=32,34;MFRL=0,0;MMQ=60,60;MPOS=64;POPAF=7.3;TLOD=6.13;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,2:0.25:9:2,0:2,1:5,1:2,5,1,1 -chr1 1037956 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C3;DP=6;ECNT=3;GERMQ=58;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=60;POPAF=7.3;TLOD=22.26;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.8:6:0,0:0,3:0,3:0,0,3,3 -chr1 1037997 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C3;DP=7;ECNT=3;GERMQ=60;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=84;POPAF=7.3;TLOD=25.44;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,7:0.833:7:0,0:0,4:0,4:0,0,4,3 -chr1 1038078 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C2;DP=5;ECNT=3;GERMQ=55;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=15;POPAF=7.3;TLOD=18.58;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.8:5:0,0:0,3:0,3:0,0,3,2 -chr1 1038288 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C1;DP=5;ECNT=1;GERMQ=55;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=52;POPAF=7.3;TLOD=17.21;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.833:5:0,0:0,4:0,4:0,0,4,1 -chr1 1038762 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=4%2C5|1%2C1;DP=11;ECNT=6;GERMQ=47;MBQ=33,31;MFRL=0,0;MMQ=60,60;MPOS=137;POPAF=7.3;TLOD=5.43;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:9,2:0.25:11:1,0:4,1:5,1:4,5,1,1 -chr1 1038800 . G T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C4;DP=9;ECNT=6;GERMQ=63;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=53;POPAF=7.3;TLOD=28.38;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.841:8:0,0:0,4:0,4:0,0,4,4 -chr1 1038819 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C4;DP=8;ECNT=6;GERMQ=63;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=72;POPAF=7.3;TLOD=28.42;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.833:8:0,0:0,4:0,4:0,0,4,4 -chr1 1038845 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C3;DP=6;ECNT=6;GERMQ=58;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=87;POPAF=7.3;TLOD=22.53;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.8:6:0,0:0,3:0,3:0,0,3,3 -chr1 1038916 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=6;GERMQ=46;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=76;POPAF=7.3;TLOD=7.12;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1039114 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C3;DP=5;ECNT=2;GERMQ=55;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=69;POPAF=7.3;TLOD=17.78;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.8:5:0,1:0,2:0,3:0,0,2,3 -chr1 1039190 . T G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=2;GERMQ=44;MBQ=0,29;MFRL=0,0;MMQ=60,60;MPOS=145;POPAF=7.3;TLOD=3.01;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.684:1:0,0:0,0:0,1:0,0,0,1 -chr1 1039514 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=40;POPAF=7.3;TLOD=7.15;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1039753 . T A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=1;GERMQ=49;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=113;POPAF=7.3;TLOD=8.4;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,0:0,1:0,2:0,0,1,2 -chr1 1040322 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=101;POPAF=7.3;TLOD=7.45;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1041586 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=12%2C13|1%2C1;DP=27;ECNT=1;GERMQ=83;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=99;POPAF=7.3;TLOD=5.02;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:25,2:0.111:27:2,0:12,1:15,1:12,13,1,1 -chr1 1041950 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=36;POPAF=7.3;TLOD=6.85;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1042190 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=85;POPAF=7.3;TLOD=7.25;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1042400 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,29;MFRL=0,0;MMQ=60,60;MPOS=20;POPAF=7.3;TLOD=3.08;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 1043295 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=7%2C7|1%2C1;DP=16;ECNT=1;GERMQ=57;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=70;POPAF=7.3;TLOD=5.42;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:14,2:0.168:16:2,0:6,1:9,1:7,7,1,1 -chr1 1043611 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=11%2C9|1%2C1;DP=22;ECNT=1;GERMQ=71;MBQ=35,31;MFRL=0,0;MMQ=60,60;MPOS=35;POPAF=7.3;TLOD=4.96;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:20,2:0.143:22:0,0:11,1:11,1:11,9,1,1 -chr1 1044368 . A T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,23;MFRL=0,0;MMQ=60,60;MPOS=12;POPAF=7.3;TLOD=4.03;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,0:0,1:0,0,1,1 -chr1 1045080 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=43;POPAF=7.3;TLOD=3.48;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 1045707 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=17;POPAF=7.3;TLOD=7.35;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1046488 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=10%2C14|1%2C1;DP=26;ECNT=2;GERMQ=81;MBQ=32,31;MFRL=0,0;MMQ=60,60;MPOS=64;POPAF=7.3;TLOD=4.77;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:24,2:0.118:26:3,0:10,1:14,1:10,14,1,1 -chr1 1046551 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C4;DP=12;ECNT=2;GERMQ=60;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=127;POPAF=7.3;TLOD=24.93;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,7:0.876:7:0,0:0,3:0,5:0,0,3,4 -chr1 1047064 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|5%2C6;DP=11;ECNT=3;GERMQ=72;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=86;POPAF=7.3;TLOD=40.34;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,11:0.888:11:0,1:0,5:0,7:0,0,5,6 -chr1 1047082 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C4;DP=10;ECNT=3;GERMQ=58;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=104;POPAF=7.3;TLOD=18.91;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.867:6:0,1:0,2:0,5:0,0,2,4 -chr1 1047133 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=3;GERMQ=52;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=52;POPAF=7.3;TLOD=14.61;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.8:4:0,1:0,2:0,3:0,0,2,2 -chr1 1047233 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3%2C3|1%2C1;DP=8;ECNT=1;GERMQ=42;MBQ=32,34;MFRL=0,0;MMQ=60,60;MPOS=57;POPAF=7.3;TLOD=6.18;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,2:0.286:8:0,0:3,1:4,1:3,3,1,1 -chr1 1047614 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=25;POPAF=7.3;TLOD=7.45;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1048096 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=22%2C16|1%2C1;DP=43;ECNT=1;GERMQ=93;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=47;POPAF=7.3;TLOD=4.7;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:38,2:0.079:40:0,0:22,1:22,1:22,16,1,1 -chr1 1048912 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=7%2C7|1%2C1;DP=16;ECNT=1;GERMQ=57;MBQ=35,33;MFRL=0,0;MMQ=60,60;MPOS=53;POPAF=7.3;TLOD=5.41;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:14,2:0.167:16:2,0:7,1:9,1:7,7,1,1 -chr1 1054866 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=6%2C4|1%2C1;DP=12;ECNT=1;GERMQ=49;MBQ=35,33;MFRL=0,0;MMQ=60,60;MPOS=55;POPAF=7.3;TLOD=5.81;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:10,2:0.222:12:0,0:6,1:6,1:6,4,1,1 -chr1 1055000 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|15%2C16;DP=33;ECNT=3;GERMQ=93;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=60;POPAF=7.3;TLOD=113.32;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,31:0.948:31:0,1:0,15:0,17:0,0,15,16 -chr1 1055037 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|13%2C13;DP=30;ECNT=3;GERMQ=93;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=88;POPAF=7.3;TLOD=92.44;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,26:0.944:26:0,1:0,12:0,15:0,0,13,13 -chr1 1055137 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|19%2C14;DP=34;ECNT=3;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=54;POPAF=7.3;TLOD=114.95;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,33:0.955:33:0,0:0,18:0,20:0,0,19,14 -chr1 1055393 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|13%2C17;DP=31;ECNT=2;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=79;POPAF=7.3;TLOD=102.54;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,30:0.951:30:0,5:0,10:0,18:0,0,13,17 -chr1 1055426 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|12%2C12;DP=28;ECNT=2;GERMQ=93;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=103;POPAF=7.3;TLOD=85.82;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,24:0.943:24:0,2:0,12:0,14:0,0,12,12 -chr1 1055604 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|29%2C32;DP=65;ECNT=1;GERMQ=93;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=73;POPAF=7.3;TLOD=216.66;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,61:0.974:61:0,3:0,29:0,36:0,0,29,32 -chr1 1055959 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=17%2C27|1%2C1;DP=47;ECNT=1;GERMQ=93;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=32;POPAF=7.3;TLOD=4.51;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:44,2:0.065:46:10,0:17,1:28,1:17,27,1,1 -chr1 1063121 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|3%2C0;DP=5;ECNT=1;GERMQ=37;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=33;POPAF=7.3;TLOD=9.83;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,3:0.667:5:0,0:1,3:1,3:1,1,3,0 -chr1 1065797 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=53%2C37|4%2C2;DP=97;ECNT=1;GERMQ=93;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=69;POPAF=7.3;TLOD=15.3;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:90,6:0.085:96:0,0:51,4:53,4:53,37,4,2 -chr1 1065963 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=15%2C18|1%2C1;DP=37;ECNT=1;GERMQ=93;MBQ=32,32;MFRL=0,0;MMQ=60,60;MPOS=6;POPAF=7.3;TLOD=4.6;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:33,2:0.079:35:6,0:15,1:22,1:15,18,1,1 -chr1 1066087 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=19%2C15|1%2C1;DP=36;ECNT=4;GERMQ=93;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=102;POPAF=7.3;TLOD=4.74;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:34,2:0.083:36:1,0:19,1:21,1:19,15,1,1 -chr1 1066088 . A C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=19%2C15|1%2C1;DP=36;ECNT=4;GERMQ=93;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=96;POPAF=7.3;TLOD=4.41;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:34,2:0.083:36:1,0:19,1:21,1:19,15,1,1 -chr1 1066174 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=16%2C18|1%2C1;DP=37;ECNT=4;GERMQ=93;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=25;POPAF=7.3;TLOD=4.89;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:34,2:0.087:36:0,0:16,1:20,1:16,18,1,1 -chr1 1066230 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=16%2C20|1%2C1;DP=38;ECNT=4;GERMQ=93;MBQ=33,30;MFRL=0,0;MMQ=60,56;MPOS=62;POPAF=7.3;TLOD=4.25;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:36,2:0.083:38:0,0:16,1:21,1:16,20,1,1 -chr1 1066726 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5%2C6|1%2C1;DP=13;ECNT=1;GERMQ=51;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=76;POPAF=7.3;TLOD=5.71;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:11,2:0.222:13:1,0:5,1:6,1:5,6,1,1 -chr1 1067007 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=15%2C16|2%2C2;DP=36;ECNT=3;GERMQ=85;MBQ=32,31;MFRL=0,0;MMQ=60,60;MPOS=14;POPAF=7.3;TLOD=10.87;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:31,4:0.143:35:1,0:14,2:17,2:15,16,2,2 -chr1 1067159 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=11%2C9|2%2C1;DP=24;ECNT=3;GERMQ=65;MBQ=34,32;MFRL=0,0;MMQ=60,60;MPOS=79;POPAF=7.3;TLOD=7.99;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:20,3:0.2:23:0,0:11,2:11,2:11,9,2,1 -chr1 1067173 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=10%2C10|1%2C1;DP=23;ECNT=3;GERMQ=71;MBQ=32,34;MFRL=0,0;MMQ=60,60;MPOS=37;POPAF=7.3;TLOD=5.39;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:20,2:0.133:22:0,0:9,1:12,1:10,10,1,1 -chr1 1068165 . G T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=4%2C3|1%2C1;DP=9;ECNT=3;GERMQ=43;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=94;POPAF=7.3;TLOD=5.83;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,2:0.25:9:1,0:4,1:5,1:4,3,1,1 -chr1 1068198 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=7%2C8|1%2C1;DP=18;ECNT=3;GERMQ=59;MBQ=33,31;MFRL=0,0;MMQ=60,60;MPOS=98;POPAF=7.3;TLOD=5.18;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:15,2:0.179:17:1,0:7,1:8,1:7,8,1,1 -chr1 1068249 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=7%2C7|2%2C2;DP=18;ECNT=3;GERMQ=48;MBQ=34,32;MFRL=0,0;MMQ=60,60;MPOS=55;POPAF=7.3;TLOD=12.05;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:14,4:0.273:18:0,0:7,2:7,2:7,7,2,2 -chr1 1068591 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=28%2C29|2%2C2;DP=63;ECNT=5;GERMQ=93;MBQ=32,35;MFRL=0,0;MMQ=60,60;MPOS=114;POPAF=7.3;TLOD=11.26;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:57,4:0.075:61:8,0:27,2:36,2:28,29,2,2 -chr1 1068604 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=30%2C33|1%2C1;DP=67;ECNT=5;GERMQ=93;MBQ=32,34;MFRL=0,0;MMQ=60,53;MPOS=86;POPAF=7.3;TLOD=4.47;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:63,2:0.049:65:7,0:30,1:37,1:30,33,1,1 -chr1 1068628 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=28%2C36|1%2C2;DP=69;ECNT=5;GERMQ=93;MBQ=33,32;MFRL=0,0;MMQ=60,59;MPOS=116;POPAF=7.3;TLOD=6.45;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:64,3:0.073:67:4,0:27,1:37,2:28,36,1,2 -chr1 1068664 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=26%2C35|3%2C4;DP=68;ECNT=5;GERMQ=93;MBQ=32,33;MFRL=0,0;MMQ=60,59;MPOS=50;POPAF=7.3;TLOD=20.02;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:61,7:0.122:68:4,0:25,3:35,4:26,35,3,4 -chr1 1068727 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=4%2C15|1%2C2;DP=25;ECNT=5;GERMQ=63;MBQ=32,34;MFRL=0,0;MMQ=60,59;MPOS=17;POPAF=7.3;TLOD=8.12;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:19,3:0.156:22:0,0:4,1:15,2:4,15,1,2 -chr1 1068905 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=11%2C11|1%2C1;DP=26;ECNT=2;GERMQ=76;MBQ=35,31;MFRL=0,0;MMQ=60,60;MPOS=107;POPAF=7.3;TLOD=4.95;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:22,2:0.141:24:0,0:9,1:11,1:11,11,1,1 -chr1 1068951 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|5%2C7;DP=12;ECNT=2;GERMQ=75;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=61;POPAF=7.3;TLOD=41.4;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,12:0.888:12:0,0:0,5:0,7:0,0,5,7 -chr1 1069761 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C1|1%2C1;DP=5;ECNT=1;GERMQ=38;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=141;POPAF=7.3;TLOD=3.82;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,2:0.4:5:0,0:2,1:2,1:2,1,1,1 -chr1 1071610 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=9%2C10|10%2C9;DP=39;ECNT=1;GERMQ=33;MBQ=32,32;MFRL=0,0;MMQ=60,60;MPOS=101;POPAF=7.3;TLOD=62.27;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:19,19:0.538:38:1,2:9,10:11,13:9,10,10,9 -chr1 1071823 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=2%2C4|2%2C2;DP=10;ECNT=4;GERMQ=37;MBQ=31,34;MFRL=0,0;MMQ=60,60;MPOS=16;POPAF=7.3;TLOD=13.09;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,4:0.375:10:0,0:2,2:4,2:2,4,2,2 -chr1 1071842 . G T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=2%2C2|1%2C1;DP=6;ECNT=4;GERMQ=39;MBQ=31,33;MFRL=0,0;MMQ=60,60;MPOS=21;POPAF=7.3;TLOD=6.15;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,2:0.333:6:0,0:2,1:3,1:2,2,1,1 -chr1 1072067 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=6%2C7|1%2C1;DP=16;ECNT=1;GERMQ=55;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=15;POPAF=7.3;TLOD=5.5;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:13,2:0.182:15:1,0:6,1:8,1:6,7,1,1 -chr1 1074098 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C1|2%2C3;DP=11;ECNT=1;GERMQ=36;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=74;POPAF=7.3;TLOD=17.05;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,5:0.574:8:0,1:2,2:2,3:2,1,2,3 -chr1 1074738 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=21;POPAF=7.3;TLOD=3.38;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 1074879 . G A . haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=2;GERMQ=44;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=34;POPAF=7.3;TLOD=4.2;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,1:0,0:0,1:0|1:1074879_G_A:1074879:0,0,0,1 -chr1 1074893 . A C . base_qual;haplotype AS_FilterStatus=base_qual;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=2;GERMQ=44;MBQ=0,13;MFRL=0,0;MMQ=60,60;MPOS=48;POPAF=7.3;TLOD=4.2;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,0:0,0:0,1:0|1:1074879_G_A:1074879:0,0,0,1 -chr1 1080336 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=122;POPAF=7.3;TLOD=3.48;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 1080437 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=3;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=35;POPAF=7.3;TLOD=7.08;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.684:2:0,0:0,1:0,1:0,0,1,1 -chr1 1081649 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=108;POPAF=7.3;TLOD=7.02;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1081961 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=6%2C6|7%2C3;DP=22;ECNT=1;GERMQ=35;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=86;POPAF=7.3;TLOD=28.93;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:12,10:0.5:22:1,0:6,7:7,7:6,6,7,3 -chr1 1082207 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=6%2C10|4%2C4;DP=26;ECNT=1;GERMQ=41;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=32;POPAF=7.3;TLOD=25.52;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:16,8:0.352:24:4,1:6,4:10,5:6,10,4,4 -chr1 1082609 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=17%2C16|1%2C1;DP=35;ECNT=1;GERMQ=93;MBQ=32,34;MFRL=0,0;MMQ=60,60;MPOS=68;POPAF=7.3;TLOD=4.99;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:33,2:0.087:35:3,0:17,1:20,1:17,16,1,1 -chr1 1083362 . T G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,29;MFRL=0,0;MMQ=60,60;MPOS=140;POPAF=7.3;TLOD=3.08;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 1085966 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C2|2%2C2;DP=8;ECNT=1;GERMQ=36;MBQ=34,34;MFRL=0,0;MMQ=60,60;MPOS=46;POPAF=7.3;TLOD=13.83;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,4:0.5:8:0,0:2,2:2,2:2,2,2,2 -chr1 1090943 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C2|1%2C1;DP=6;ECNT=1;GERMQ=38;MBQ=25,34;MFRL=0,0;MMQ=60,60;MPOS=75;POPAF=7.3;TLOD=6.67;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,2:0.4:5:0,0:1,1:2,1:1,2,1,1 -chr1 1091421 . T A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=104;POPAF=7.3;TLOD=7.15;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1094198 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|3%2C2;DP=5;ECNT=1;GERMQ=55;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=100;POPAF=7.3;TLOD=17.48;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.8:5:0,0:0,3:0,3:0,0,3,2 -chr1 1095185 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4%2C3|1%2C1;DP=9;ECNT=2;GERMQ=43;MBQ=31,32;MFRL=0,0;MMQ=60,60;MPOS=9;POPAF=7.3;TLOD=5.78;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,2:0.286:9:0,0:4,1:4,1:4,3,1,1 -chr1 1096160 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|4%2C2;DP=6;ECNT=1;GERMQ=58;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=60;POPAF=7.3;TLOD=22.56;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.833:6:0,0:0,4:0,4:0,0,4,2 -chr1 1096593 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C1;DP=4;ECNT=1;GERMQ=37;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=65;POPAF=7.3;TLOD=6.78;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.5:4:0,0:1,1:1,1:1,1,1,1 -chr1 1096804 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=96;POPAF=7.3;TLOD=7.15;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1096900 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=15;POPAF=7.3;TLOD=3.58;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 1098619 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=37;POPAF=7.3;TLOD=6.95;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1110480 . A T . base_qual;clustered_events;haplotype AS_FilterStatus=base_qual;AS_SB_TABLE=1%2C2|1%2C0;DP=4;ECNT=3;GERMQ=40;MBQ=34,14;MFRL=0,0;MMQ=60,60;MPOS=128;POPAF=7.3;TLOD=3.42;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:3,1:0.4:4:1,0:1,0:2,1:0|1:1110470_AA_CG:1110470:1,2,1,0 -chr1 1110490 . T A . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=1%2C2|1%2C0;DP=5;ECNT=3;GERMQ=40;MBQ=33,24;MFRL=0,0;MMQ=60,60;MPOS=118;POPAF=7.3;TLOD=3.38;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:3,1:0.396:4:1,0:1,1:2,1:0|1:1110470_AA_CG:1110470:1,2,1,0 -chr1 1110673 . T C . base_qual AS_FilterStatus=base_qual;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,19;MFRL=0,0;MMQ=60,60;MPOS=8;POPAF=7.3;TLOD=3.53;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1112230 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C1;DP=4;ECNT=1;GERMQ=37;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=16;POPAF=7.3;TLOD=6.78;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.5:4:0,0:1,1:1,1:1,1,1,1 -chr1 1112351 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=2;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=39;POPAF=7.3;TLOD=10.75;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,0:0,1:0,2:0,0,1,2 -chr1 1112385 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=2;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=7;POPAF=7.3;TLOD=7.15;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1112865 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=3%2C2|1%2C1;DP=8;ECNT=4;GERMQ=40;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=115;POPAF=7.3;TLOD=6.02;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:5,2:0.334:7:0,0:3,1:3,1:3,2,1,1 -chr1 1112892 . T C . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=5%2C5|1%2C1;DP=12;ECNT=4;GERMQ=49;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=88;POPAF=7.3;TLOD=6.43;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:10,2:0.25:12:0,0:5,1:5,1:0|1:1112892_T_C:1112892:5,5,1,1 -chr1 1112897 . T C . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=5%2C5|1%2C1;DP=12;ECNT=4;GERMQ=49;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=83;POPAF=7.3;TLOD=6.43;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:10,2:0.25:12:0,0:5,1:5,1:0|1:1112892_T_C:1112892:5,5,1,1 -chr1 1113318 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=6%2C4|4%2C4;DP=19;ECNT=2;GERMQ=35;MBQ=32,34;MFRL=0,0;MMQ=60,60;MPOS=84;POPAF=7.3;TLOD=27.87;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:10,8:0.5:18:0,0:5,4:5,5:0|1:1113318_T_C:1113318:6,4,4,4 -chr1 1113322 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=9%2C8|1%2C1;DP=19;ECNT=2;GERMQ=64;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=47;POPAF=7.3;TLOD=5.41;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:17,2:0.167:19:0,0:9,1:9,1:0|1:1113318_T_C:1113318:9,8,1,1 -chr1 1113490 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C3|1%2C1;DP=7;ECNT=2;GERMQ=40;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=110;POPAF=7.3;TLOD=6.15;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:5,2:0.333:7:1,0:2,1:3,1:2,3,1,1 -chr1 1113525 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C4|1%2C1;DP=8;ECNT=2;GERMQ=42;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=137;POPAF=7.3;TLOD=5.98;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,2:0.286:8:1,0:2,1:4,1:2,4,1,1 -chr1 1114590 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5%2C5|1%2C1;DP=12;ECNT=1;GERMQ=49;MBQ=32,32;MFRL=0,0;MMQ=60,60;MPOS=30;POPAF=7.3;TLOD=5.73;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:10,2:0.25:12:0,0:4,1:5,1:5,5,1,1 -chr1 1130087 . T A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=67;POPAF=7.3;TLOD=6.85;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1143811 . T C . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=3;GERMQ=44;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=73;POPAF=7.3;TLOD=4.2;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,1:0,0:0,1:0|1:1143811_T_C:1143811:0,0,0,1 -chr1 1143818 . T C . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=3;GERMQ=44;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=66;POPAF=7.3;TLOD=4.2;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,1:0,0:0,1:0|1:1143811_T_C:1143811:0,0,0,1 -chr1 1143881 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=3;GERMQ=44;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=3;POPAF=7.3;TLOD=3.27;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 1153882 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=101;POPAF=7.3;TLOD=7.55;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1158233 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,22;MFRL=0,0;MMQ=60,60;MPOS=104;POPAF=7.3;TLOD=4.03;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1158404 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C1;DP=4;ECNT=1;GERMQ=37;MBQ=32,31;MFRL=0,0;MMQ=60,60;MPOS=97;POPAF=7.3;TLOD=6.38;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.5:4:0,0:1,1:1,1:1,1,1,1 -chr1 1160239 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=1;GERMQ=52;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=92;POPAF=7.3;TLOD=13.85;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 1160818 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|1%2C1;DP=4;ECNT=1;GERMQ=37;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=29;POPAF=7.3;TLOD=6.68;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.5:4:0,0:1,1:1,1:1,1,1,1 -chr1 1161528 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=41;POPAF=7.3;TLOD=3.58;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 1161720 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C1;DP=3;ECNT=1;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=108;POPAF=7.3;TLOD=8.04;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.744:3:0,0:0,1:0,2:0,0,2,1 -chr1 1161907 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=2;GERMQ=49;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=40;POPAF=7.3;TLOD=10.65;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,1:0,1:0,2:0,0,1,2 -chr1 1161955 . T G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=2;GERMQ=44;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=3;POPAF=7.3;TLOD=3.28;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 1162557 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=1;ECNT=1;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=53;POPAF=7.3;TLOD=3.48;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 1162886 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|5%2C4;DP=11;ECNT=3;GERMQ=42;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=59;POPAF=7.3;TLOD=31.57;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,9:0.75:11:0,0:1,5:1,5:1,1,5,4 -chr1 1162960 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=11%2C9|1%2C1;DP=22;ECNT=3;GERMQ=71;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=90;POPAF=7.3;TLOD=5.23;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:20,2:0.125:22:0,0:11,1:13,1:11,9,1,1 -chr1 1163041 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|21%2C20;DP=44;ECNT=3;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=48;POPAF=7.3;TLOD=146.18;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,41:0.961:41:0,0:0,21:0,23:0,0,21,20 -chr1 1163178 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4%2C4|1%2C1;DP=11;ECNT=1;GERMQ=45;MBQ=34,32;MFRL=0,0;MMQ=60,60;MPOS=125;POPAF=7.3;TLOD=5.7;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:8,2:0.246:10:0,0:4,1:5,1:4,4,1,1 -chr1 1163531 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=12%2C5|1%2C1;DP=19;ECNT=1;GERMQ=64;MBQ=35,33;MFRL=0,0;MMQ=60,60;MPOS=47;POPAF=7.3;TLOD=5.2;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:17,2:0.134:19:0,0:11,1:12,1:12,5,1,1 -chr1 1163718 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=8%2C12|1%2C1;DP=22;ECNT=1;GERMQ=71;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=131;POPAF=7.3;TLOD=5.38;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:20,2:0.118:22:4,0:8,1:14,1:8,12,1,1 -chr1 1163962 . A C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|7%2C9;DP=21;ECNT=1;GERMQ=87;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=64;POPAF=7.3;TLOD=55.5;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,16:0.925:16:0,3:0,7:0,10:0,0,7,9 -chr1 1164679 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=9%2C9|1%2C1;DP=20;ECNT=1;GERMQ=66;MBQ=34,34;MFRL=0,0;MMQ=60,60;MPOS=40;POPAF=7.3;TLOD=5.63;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:18,2:0.154:20:1,0:9,1:10,1:9,9,1,1 -chr1 1164837 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|10%2C10;DP=22;ECNT=2;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=81;POPAF=7.3;TLOD=70.36;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,20:0.93:20:0,1:0,10:0,12:0,0,10,10 -chr1 1164939 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C0|4%2C4;DP=10;ECNT=2;GERMQ=48;MBQ=29,33;MFRL=0,0;MMQ=60,60;MPOS=71;POPAF=7.3;TLOD=25.29;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,8:0.875:9:0,0:0,5:0,6:1,0,4,4 -chr1 1165623 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|11%2C10;DP=21;ECNT=2;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=66;POPAF=7.3;TLOD=77.06;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,21:0.933:21:0,1:0,11:0,13:0,0,11,10 -chr1 1165685 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=8%2C12|1%2C1;DP=23;ECNT=2;GERMQ=71;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=71;POPAF=7.3;TLOD=5.07;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:20,2:0.118:22:2,0:8,1:14,1:8,12,1,1 -chr1 1165943 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5%2C5|3%2C4;DP=17;ECNT=1;GERMQ=37;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=88;POPAF=7.3;TLOD=23.39;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:10,7:0.5:17:0,2:5,3:5,5:5,5,3,4 -chr1 1166689 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|6%2C5;DP=11;ECNT=1;GERMQ=72;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=89;POPAF=7.3;TLOD=40.0;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,11:0.875:11:0,0:0,6:0,6:0,0,6,5 -chr1 1167682 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4%2C4|1%2C1;DP=10;ECNT=2;GERMQ=45;MBQ=33,31;MFRL=0,0;MMQ=60,60;MPOS=58;POPAF=7.3;TLOD=5.68;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:8,2:0.286:10:0,0:4,1:4,1:4,4,1,1 -chr1 1167762 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4%2C4|1%2C1;DP=10;ECNT=2;GERMQ=45;MBQ=35,35;MFRL=0,0;MMQ=60,60;MPOS=13;POPAF=7.3;TLOD=6.48;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:8,2:0.286:10:0,0:4,1:4,1:4,4,1,1 -chr1 1168162 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=3;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=22;POPAF=7.3;TLOD=7.18;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.684:2:0,0:0,1:0,1:0,0,1,1 -chr1 1168578 . T G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|8%2C5;DP=13;ECNT=2;GERMQ=78;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=98;POPAF=7.3;TLOD=47.14;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,13:0.9:13:0,0:0,8:0,8:0,0,8,5 -chr1 1168643 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C5|1%2C1;DP=11;ECNT=2;GERMQ=43;MBQ=35,33;MFRL=0,0;MMQ=60,60;MPOS=100;POPAF=7.3;TLOD=5.8;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,2:0.246:9:0,0:2,1:5,1:2,5,1,1 -chr1 1169204 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=36;POPAF=7.3;TLOD=7.35;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1169591 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C1|3%2C2;DP=6;ECNT=1;GERMQ=41;MBQ=29,31;MFRL=0,0;MMQ=60,60;MPOS=109;POPAF=7.3;TLOD=16.48;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,5:0.667:6:0,0:0,3:1,3:0,1,3,2 -chr1 1169858 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|1%2C2;DP=3;ECNT=1;GERMQ=49;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=123;POPAF=7.3;TLOD=10.75;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,1:0,1:0,2:0,0,1,2 -chr1 1205607 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|0%2C0;DP=2;ECNT=1;GERMQ=44;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=95;POPAF=7.3;TLOD=3.28;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 1217674 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=10%2C19|1%2C1;DP=31;ECNT=1;GERMQ=93;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=28;POPAF=7.3;TLOD=4.74;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:29,2:0.074:31:7,0:10,1:24,1:10,19,1,1 -chr1 1218523 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=28%2C29|1%2C1;DP=61;ECNT=1;GERMQ=93;MBQ=32,34;MFRL=0,0;MMQ=60,60;MPOS=79;POPAF=7.3;TLOD=4.6;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:57,2:0.057:59:4,0:28,1:32,1:28,29,1,1 -chr1 1221034 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2%2C4|1%2C1;DP=8;ECNT=1;GERMQ=42;MBQ=34,34;MFRL=0,0;MMQ=60,60;MPOS=75;POPAF=7.3;TLOD=6.18;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,2:0.286:8:1,0:2,1:4,1:2,4,1,1 -chr1 1221498 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C2|2%2C2;DP=6;ECNT=1;GERMQ=36;MBQ=32,35;MFRL=0,0;MMQ=60,60;MPOS=91;POPAF=7.3;TLOD=13.93;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,4:0.5:6:1,0:0,2:2,2:0,2,2,2 -chr1 1223251 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1%2C1|6%2C8;DP=26;ECNT=1;GERMQ=53;MBQ=31,33;MFRL=0,0;MMQ=60,60;MPOS=70;POPAF=7.3;TLOD=48.36;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,14:0.842:16:0,3:1,6:1,9:1,1,6,8 -chr1 1223932 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=14%2C9|1%2C1;DP=25;ECNT=1;GERMQ=78;MBQ=33,31;MFRL=0,0;MMQ=60,60;MPOS=48;POPAF=7.3;TLOD=4.67;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:23,2:0.105:25:2,0:14,1:16,1:14,9,1,1 -chr1 1224137 . T C . position AS_FilterStatus=position;AS_SB_TABLE=0%2C0|2%2C1;DP=3;ECNT=1;GERMQ=49;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=0;POPAF=7.3;TLOD=10.5;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.75:3:0,0:0,2:0,2:0,0,2,1 -chr1 1226946 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0%2C0|2%2C2;DP=4;ECNT=1;GERMQ=52;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=46;POPAF=7.3;TLOD=14.43;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.75:4:0,0:0,2:0,2:0,0,2,2 -chr1 1232278 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=6%2C6|1%2C1;DP=14;ECNT=1;GERMQ=53;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=6;POPAF=7.3;TLOD=5.51;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:12,2:0.222:14:0,0:6,1:6,1:6,6,1,1 -chr1 1232533 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=24%2C22|1%2C1;DP=50;ECNT=1;GERMQ=93;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=16;POPAF=7.3;TLOD=4.73;SRC=snv;GRP=s001 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:46,2:0.074:48:0,0:23,1:24,1:24,22,1,1 diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants.vcf.gz b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants.vcf.gz deleted file mode 100644 index 62d0065..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants.vcf.gz and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants.vcf.gz.tbi b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants.vcf.gz.tbi deleted file mode 100644 index 1f75991..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants.vcf.gz.tbi and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr1.vcf b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr1.vcf deleted file mode 100644 index b0dc4e7..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr1.vcf +++ /dev/null @@ -1,532 +0,0 @@ -##fileformat=VCFv4.2 -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##GATKCommandLine= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##MutectVersion=2.2 -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##filtering_status=Warning: unfiltered Mutect 2 calls. Please run FilterMutectCalls to remove false positives. -##source=Mutect2 -##tumor_sample=unknown -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT unknown -chr1 190768 . G A . . AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;MBQ=0,34;MFRL=0,0;MMQ=60,22;MPOS=92;POPAF=7.30;TLOD=5.05 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 733895 . G T . . AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;MBQ=0,21;MFRL=0,0;MMQ=60,25;MPOS=37;POPAF=7.30;TLOD=3.63 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 778034 . GAA G . . AS_SB_TABLE=1,1|1,1;DP=5;ECNT=3;MBQ=34,34;MFRL=0,0;MMQ=56,60;MPOS=31;POPAF=7.30;RPA=7,5;RU=A;STR;TLOD=7.55 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.501:4:0,0:1,1:1,1:1,1,1,1 -chr1 778051 . T C . . AS_SB_TABLE=1,2|1,1;DP=5;ECNT=3;MBQ=31,33;MFRL=0,0;MMQ=60,56;MPOS=55;POPAF=7.30;TLOD=6.38 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,2:0.400:5:0,0:1,1:2,1:1,2,1,1 -chr1 778082 . TT CC . . AS_SB_TABLE=0,1|1,1;DP=3;ECNT=3;MBQ=31,34;MFRL=0,0;MMQ=21,56;MPOS=24;POPAF=7.30;TLOD=8.22 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,2:0.500:3:0,0:0,1:1,1:0,1,1,1 -chr1 778906 . G T . . AS_SB_TABLE=1,1|2,1;DP=5;ECNT=2;MBQ=35,32;MFRL=0,0;MMQ=38,32;MPOS=45;POPAF=7.30;TLOD=9.25 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,3:0.600:5:0,0:1,2:1,2:1,1,2,1 -chr1 778984 . G A . . AS_SB_TABLE=1,0|1,1;DP=3;ECNT=2;MBQ=35,32;MFRL=0,0;MMQ=30,32;MPOS=123;POPAF=7.30;TLOD=6.37 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,2:0.500:3:0,0:1,1:1,1:1,0,1,1 -chr1 779196 . G T . . AS_SB_TABLE=4,5|1,1;DP=11;ECNT=1;MBQ=33,33;MFRL=0,0;MMQ=53,60;MPOS=59;POPAF=7.30;TLOD=5.83 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:9,2:0.250:11:1,0:3,1:5,1:4,5,1,1 -chr1 779968 . T G . . AS_SB_TABLE=0,0|5,6;DP=13;ECNT=1;MBQ=0,34;MFRL=0,0;MMQ=60,50;MPOS=65;POPAF=7.30;TLOD=39.07 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,11:0.880:11:0,1:0,5:0,6:0,0,5,6 -chr1 780634 . G T . . AS_SB_TABLE=0,0|0,0;DP=1;ECNT=1;MBQ=0,29;MFRL=0,0;MMQ=60,32;MPOS=16;POPAF=7.30;TLOD=3.08 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 781047 . C T . . AS_SB_TABLE=2,2|1,1;DP=6;ECNT=1;MBQ=34,34;MFRL=0,0;MMQ=22,24;MPOS=82;POPAF=7.30;TLOD=4.67 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,2:0.400:6:0,0:2,1:2,1:2,2,1,1 -chr1 783175 . T C . . AS_SB_TABLE=0,0|2,1;DP=3;ECNT=1;MBQ=0,33;MFRL=0,0;MMQ=60,32;MPOS=13;POPAF=7.30;TLOD=10.65 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.750:3:0,0:0,2:0,2:0,0,2,1 -chr1 794299 . C G . . AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;MBQ=0,34;MFRL=0,0;MMQ=60,34;MPOS=52;POPAF=7.30;TLOD=7.35 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 797585 . G T . . AS_SB_TABLE=0,0|0,0;DP=2;ECNT=2;MBQ=0,32;MFRL=0,0;MMQ=60,31;MPOS=21;POPAF=7.30;TLOD=6.85 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 797609 . C T . . AS_SB_TABLE=0,0|0,0;DP=1;ECNT=2;MBQ=0,33;MFRL=0,0;MMQ=60,31;MPOS=7;POPAF=7.30;TLOD=3.28 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,0:0,1:0,0,0,1 -chr1 817186 . G A . . AS_SB_TABLE=0,0|6,5;DP=12;ECNT=4;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=45;POPAF=7.30;TLOD=33.35 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,11:0.889:11:0,1:0,5:0,7:0,0,6,5 -chr1 817233 . CA C . . AS_SB_TABLE=3,5|1,1;DP=11;ECNT=4;MBQ=34,35;MFRL=0,0;MMQ=60,30;MPOS=76;POPAF=7.30;RPA=3,2;RU=A;STR;TLOD=5.39 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:8,2:0.222:10:0,0:3,1:6,1:3,5,1,1 -chr1 817257 . T C . . AS_SB_TABLE=3,1|2,4;DP=10;ECNT=4;MBQ=31,34;MFRL=0,0;MMQ=45,60;MPOS=77;POPAF=7.30;TLOD=20.61 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,6:0.556:10:0,0:3,2:3,4:3,1,2,4 -chr1 817341 . A G,AG . . AS_SB_TABLE=0,0|4,5|1,1;DP=11;ECNT=4;MBQ=0,33,33;MFRL=0,0,0;MMQ=60,60,60;MPOS=62,122;POPAF=7.30,7.30;TLOD=29.10,5.27 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1/2:0,9,2:0.667,0.222:11:0,0,0:0,4,1:0,5,1:0,0,5,6 -chr1 818094 . C G . . AS_SB_TABLE=0,0|2,1;DP=3;ECNT=1;MBQ=0,33;MFRL=0,0;MMQ=60,28;MPOS=26;POPAF=7.30;TLOD=9.35 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.750:3:0,0:0,2:0,2:0,0,2,1 -chr1 818802 . A G . . AS_SB_TABLE=0,0|4,2;DP=6;ECNT=2;MBQ=0,32;MFRL=0,0;MMQ=60,41;MPOS=94;POPAF=7.30;TLOD=26.30 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,6:0.833:6:0,0:0,4:0,4:0|1:818802_A_G:818802:0,0,4,2 -chr1 818812 . A G . . AS_SB_TABLE=0,0|4,2;DP=6;ECNT=2;MBQ=0,32;MFRL=0,0;MMQ=60,41;MPOS=85;POPAF=7.30;TLOD=26.30 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,6:0.833:6:0,0:0,4:0,4:0|1:818802_A_G:818802:0,0,4,2 -chr1 818954 . T C . . AS_SB_TABLE=0,0|1,2;DP=3;ECNT=1;MBQ=0,32;MFRL=0,0;MMQ=60,41;MPOS=53;POPAF=7.30;TLOD=10.35 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.800:3:0,2:0,1:0,3:0,0,1,2 -chr1 819123 . G A . . AS_SB_TABLE=0,0|3,3;DP=6;ECNT=1;MBQ=0,33;MFRL=0,0;MMQ=60,54;MPOS=85;POPAF=7.30;TLOD=21.26 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.833:6:0,1:0,3:0,4:0,0,3,3 -chr1 819584 . C T . . AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;MBQ=0,32;MFRL=0,0;MMQ=60,21;MPOS=29;POPAF=7.30;TLOD=4.85 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 820395 . A G . . AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=111;POPAF=7.30;TLOD=7.35 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 821000 . T A . . AS_SB_TABLE=0,0|0,0;DP=1;ECNT=1;MBQ=0,29;MFRL=0,0;MMQ=60,60;MPOS=83;POPAF=7.30;TLOD=3.08 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 822354 . C T . . AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;MBQ=0,28;MFRL=0,0;MMQ=60,60;MPOS=101;POPAF=7.30;TLOD=6.25 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 822764 . A G . . AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=122;POPAF=7.30;TLOD=7.15 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 822944 . T C . . AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=107;POPAF=7.30;TLOD=7.45 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 823246 . C T . . AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=102;POPAF=7.30;TLOD=7.02 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 825767 . T C . . AS_SB_TABLE=0,0|2,2;DP=4;ECNT=1;MBQ=0,34;MFRL=0,0;MMQ=60,45;MPOS=126;POPAF=7.30;TLOD=14.63 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.750:4:0,0:0,2:0,2:0,0,2,2 -chr1 826352 . C T . . AS_SB_TABLE=0,0|0,0;DP=1;ECNT=1;MBQ=0,31;MFRL=0,0;MMQ=60,44;MPOS=11;POPAF=7.30;TLOD=3.28 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 837375 . A C . . AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;MBQ=0,33;MFRL=0,0;MMQ=60,38;MPOS=93;POPAF=7.30;TLOD=7.25 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 838563 . A G . . AS_SB_TABLE=0,0|0,0;DP=1;ECNT=1;MBQ=0,29;MFRL=0,0;MMQ=60,50;MPOS=78;POPAF=7.30;TLOD=3.08 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,0:0,1:0,0,0,1 -chr1 839183 . GA G . . AS_SB_TABLE=3,1|1,1;DP=6;ECNT=1;MBQ=33,33;MFRL=0,0;MMQ=22,21;MPOS=72;POPAF=7.30;RPA=7,6;RU=A;STR;TLOD=4.93 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,2:0.333:6:0,0:3,1:3,1:3,1,1,1 -chr1 839356 . A C . . AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;MBQ=0,31;MFRL=0,0;MMQ=60,37;MPOS=121;POPAF=7.30;TLOD=6.68 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.750:2:0,2:0,0:0,2:0,0,0,2 -chr1 841462 . A G . . AS_SB_TABLE=19,19|1,1;DP=40;ECNT=1;MBQ=33,31;MFRL=0,0;MMQ=54,35;MPOS=38;POPAF=7.30;TLOD=4.35 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:38,2:0.083:40:2,0:19,1:21,1:19,19,1,1 -chr1 841742 . A T . . AS_SB_TABLE=0,0|10,12;DP=26;ECNT=1;MBQ=0,33;MFRL=0,0;MMQ=60,31;MPOS=70;POPAF=7.30;TLOD=72.93 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,22:0.930:22:0,0:0,10:0,12:0,0,10,12 -chr1 842714 . C T . . AS_SB_TABLE=18,13|1,1;DP=35;ECNT=1;MBQ=33,30;MFRL=0,0;MMQ=60,60;MPOS=51;POPAF=7.30;TLOD=4.29 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:31,2:0.090:33:1,0:18,1:19,1:18,13,1,1 -chr1 842922 . C CCT . . AS_SB_TABLE=0,0|4,4;DP=11;ECNT=1;MBQ=0,33;MFRL=0,0;MMQ=60,31;MPOS=104;POPAF=7.30;RPA=2,3;RU=CT;STR;TLOD=33.78 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.884:8:0,1:0,4:0,6:0,0,4,4 -chr1 843189 . A G . . AS_SB_TABLE=0,0|11,13;DP=25;ECNT=1;MBQ=0,32;MFRL=0,0;MMQ=60,25;MPOS=95;POPAF=7.30;TLOD=73.31 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,24:0.941:24:0,4:0,11:0,15:0,0,11,13 -chr1 844097 . C A . . AS_SB_TABLE=12,9|1,1;DP=26;ECNT=1;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=47;POPAF=7.30;TLOD=5.37 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:21,2:0.130:23:0,0:12,1:12,1:12,9,1,1 -chr1 844647 . G T . . AS_SB_TABLE=0,0|5,3;DP=8;ECNT=1;MBQ=0,33;MFRL=0,0;MMQ=60,48;MPOS=31;POPAF=7.30;TLOD=29.04 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.857:8:0,0:0,5:0,5:0,0,5,3 -chr1 845405 . T A . . AS_SB_TABLE=0,0|4,4;DP=8;ECNT=1;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=109;POPAF=7.30;TLOD=28.22 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.833:8:0,0:0,4:0,4:0,0,4,4 -chr1 845626 . GT G . . AS_SB_TABLE=7,7|1,1;DP=19;ECNT=1;MBQ=34,34;MFRL=0,0;MMQ=44,60;MPOS=79;POPAF=7.30;RPA=3,2;RU=T;STR;TLOD=5.17 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:14,2:0.180:16:0,0:7,1:8,1:7,7,1,1 -chr1 846240 . A G . . AS_SB_TABLE=2,4|1,1;DP=8;ECNT=1;MBQ=32,31;MFRL=0,0;MMQ=22,21;MPOS=138;POPAF=7.30;TLOD=3.67 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,2:0.286:8:2,0:2,1:4,1:2,4,1,1 -chr1 849670 . G A . . AS_SB_TABLE=0,0|3,2;DP=5;ECNT=1;MBQ=0,33;MFRL=0,0;MMQ=60,44;MPOS=63;POPAF=7.30;TLOD=17.55 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.800:5:0,0:0,3:0,3:0,0,3,2 -chr1 850142 . T C . . AS_SB_TABLE=0,0|0,0;DP=1;ECNT=1;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=25;POPAF=7.30;TLOD=3.48 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 851882 . C G . . AS_SB_TABLE=0,0|2,2;DP=4;ECNT=1;MBQ=0,32;MFRL=0,0;MMQ=60,44;MPOS=26;POPAF=7.30;TLOD=13.40 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.750:4:0,0:0,2:0,2:0,0,2,2 -chr1 852019 . G T . . AS_SB_TABLE=1,1|12,9;DP=24;ECNT=1;MBQ=31,33;MFRL=0,0;MMQ=60,44;MPOS=83;POPAF=7.30;TLOD=73.51 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,21:0.896:23:0,4:1,12:1,16:1,1,12,9 -chr1 852305 . G T . . AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;MBQ=0,32;MFRL=0,0;MMQ=60,21;MPOS=66;POPAF=7.30;TLOD=4.85 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 853565 . G C . . AS_SB_TABLE=0,0|0,0;DP=3;ECNT=2;MBQ=0,32;MFRL=0,0;MMQ=60,25;MPOS=128;POPAF=7.30;TLOD=8.47 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,2:0.764:2:0,0:0,1:0,2:0|1:853565_G_C:853565:0,0,1,1 -chr1 853572 . G A . . AS_SB_TABLE=0,0|0,0;DP=2;ECNT=2;MBQ=0,33;MFRL=0,0;MMQ=60,25;MPOS=135;POPAF=7.30;TLOD=8.52 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,2:0.750:2:0,0:0,1:0,2:0|1:853565_G_C:853565:0,0,1,1 -chr1 855378 . GTA G . . AS_SB_TABLE=0,0|2,1;DP=4;ECNT=1;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=58;POPAF=7.30;TLOD=12.98 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.765:3:0,0:0,2:0,2:0,0,2,1 -chr1 855801 . A G . . AS_SB_TABLE=4,10|1,1;DP=20;ECNT=1;MBQ=32,33;MFRL=0,0;MMQ=32,24;MPOS=104;POPAF=7.30;TLOD=3.54 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:14,2:0.141:16:4,0:4,1:11,1:4,10,1,1 -chr1 856029 . T C . . AS_SB_TABLE=9,5|1,1;DP=16;ECNT=1;MBQ=32,31;MFRL=0,0;MMQ=22,22;MPOS=130;POPAF=7.30;TLOD=3.31 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:14,2:0.167:16:0,0:9,1:9,1:9,5,1,1 -chr1 856666 . A G . . AS_SB_TABLE=19,15|1,1;DP=36;ECNT=3;MBQ=33,33;MFRL=0,0;MMQ=40,48;MPOS=26;POPAF=7.30;TLOD=4.89 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:34,2:0.087:36:0,0:18,1:20,1:19,15,1,1 -chr1 856691 . C T . . AS_SB_TABLE=20,15|1,1;DP=37;ECNT=3;MBQ=33,33;MFRL=0,0;MMQ=43,52;MPOS=79;POPAF=7.30;TLOD=4.81 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:35,2:0.080:37:0,0:20,1:22,1:20,15,1,1 -chr1 856716 . T C . . AS_SB_TABLE=18,13|1,1;DP=34;ECNT=3;MBQ=33,34;MFRL=0,0;MMQ=46,54;MPOS=89;POPAF=7.30;TLOD=5.01 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:31,2:0.080:33:0,0:18,1:22,1:18,13,1,1 -chr1 856883 . A G . . AS_SB_TABLE=0,0|4,5;DP=11;ECNT=1;MBQ=0,35;MFRL=0,0;MMQ=60,21;MPOS=102;POPAF=7.30;TLOD=22.37 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,9:0.906:9:0,4:0,4:0,8:0,0,4,5 -chr1 857100 . C T . . AS_SB_TABLE=0,0|9,7;DP=16;ECNT=1;MBQ=0,32;MFRL=0,0;MMQ=60,21;MPOS=69;POPAF=7.30;TLOD=40.02 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,16:0.917:16:0,1:0,8:0,10:0,0,9,7 -chr1 857234 . T C . . AS_SB_TABLE=7,10|1,1;DP=19;ECNT=1;MBQ=33,34;MFRL=0,0;MMQ=24,23;MPOS=40;POPAF=7.30;TLOD=3.43 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:17,2:0.154:19:3,0:7,1:10,1:7,10,1,1 -chr1 858135 . C CT . . AS_SB_TABLE=3,3|1,1;DP=8;ECNT=1;MBQ=32,34;MFRL=0,0;MMQ=28,27;MPOS=45;POPAF=7.30;RPA=7,8;RU=T;STR;TLOD=4.78 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,2:0.333:8:1,0:2,1:3,1:3,3,1,1 -chr1 859166 . CTTA C . . AS_SB_TABLE=3,3|0,1;DP=7;ECNT=1;MBQ=34,34;MFRL=0,0;MMQ=29,22;MPOS=53;POPAF=7.30;RPA=3,2;RU=TTA;STR;TLOD=3.03 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,1:0.286:7:0,0:3,0:4,1:3,3,0,1 -chr1 859348 . T C . . AS_SB_TABLE=1,2|1,1;DP=5;ECNT=1;MBQ=33,24;MFRL=0,0;MMQ=43,36;MPOS=113;POPAF=7.30;TLOD=3.75 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,2:0.400:5:1,0:1,0:2,1:1,2,1,1 -chr1 897018 . T C . . AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;MBQ=0,35;MFRL=0,0;MMQ=60,45;MPOS=106;POPAF=7.30;TLOD=7.05 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 901763 . A G . . AS_SB_TABLE=1,1|1,1;DP=4;ECNT=1;MBQ=34,34;MFRL=0,0;MMQ=60,60;MPOS=43;POPAF=7.30;TLOD=6.88 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.500:4:0,0:1,1:1,1:1,1,1,1 -chr1 902641 . C T . . AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=73;POPAF=7.30;TLOD=7.02 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 902949 . G GC . . AS_SB_TABLE=0,0|0,0;DP=2;ECNT=2;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=110;POPAF=7.30;RPA=4,5;RU=C;STR;TLOD=6.22 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 903007 . T C . . AS_SB_TABLE=0,0|0,0;DP=2;ECNT=2;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=51;POPAF=7.30;TLOD=7.45 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 904947 . G A . . AS_SB_TABLE=3,2|2,2;DP=9;ECNT=1;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=116;POPAF=7.30;TLOD=13.03 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:5,4:0.429:9:0,0:3,2:3,2:3,2,2,2 -chr1 905705 . C G . . AS_SB_TABLE=3,4|2,3;DP=13;ECNT=1;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=89;POPAF=7.30;TLOD=16.64 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,5:0.444:12:1,0:3,2:4,3:3,4,2,3 -chr1 906014 . GC G . . AS_SB_TABLE=4,6|1,1;DP=13;ECNT=1;MBQ=33,30;MFRL=0,0;MMQ=60,60;MPOS=89;POPAF=7.30;RPA=3,2;RU=C;STR;TLOD=4.61 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:10,2:0.200:12:0,0:3,1:7,1:4,6,1,1 -chr1 906535 . T C . . AS_SB_TABLE=11,11|1,1;DP=24;ECNT=2;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=125;POPAF=7.30;TLOD=5.14 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:22,2:0.126:24:1,0:10,1:13,1:11,11,1,1 -chr1 906633 . T G . . AS_SB_TABLE=3,3|2,2;DP=12;ECNT=2;MBQ=31,34;MFRL=0,0;MMQ=60,60;MPOS=78;POPAF=7.30;TLOD=12.47 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,4:0.427:10:0,0:3,2:3,2:3,3,2,2 -chr1 906982 . C T . . AS_SB_TABLE=0,0|8,8;DP=17;ECNT=2;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=40;POPAF=7.30;TLOD=64.21 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,16:0.909:16:0,0:0,8:0,9:0|1:906982_C_T:906982:0,0,8,8 -chr1 907022 . C A . . AS_SB_TABLE=3,4|5,4;DP=16;ECNT=2;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=89;POPAF=7.30;TLOD=29.02 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:7,9:0.583:16:0,0:3,5:4,6:0|1:906982_C_T:906982:3,4,5,4 -chr1 907236 . TAAA T . . AS_SB_TABLE=0,0|0,0;DP=4;ECNT=1;MBQ=0,23;MFRL=0,0;MMQ=60,60;MPOS=71;POPAF=7.30;RPA=14,11;RU=A;STR;TLOD=7.69 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.686:2:0,0:0,1:0,1:0,0,1,1 -chr1 907445 . A G . . AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=91;POPAF=7.30;TLOD=7.35 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 908025 . A G . . AS_SB_TABLE=2,2|3,2;DP=9;ECNT=1;MBQ=31,32;MFRL=0,0;MMQ=60,60;MPOS=64;POPAF=7.30;TLOD=16.71 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,5:0.571:9:0,0:2,3:2,3:2,2,3,2 -chr1 908285 . A G . . AS_SB_TABLE=2,5|1,1;DP=9;ECNT=1;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=24;POPAF=7.30;TLOD=5.70 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,2:0.250:9:2,0:2,1:5,1:2,5,1,1 -chr1 909894 . G T . . AS_SB_TABLE=1,1|2,2;DP=6;ECNT=2;MBQ=34,31;MFRL=0,0;MMQ=60,60;MPOS=83;POPAF=7.30;TLOD=13.23 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:2,4:0.600:6:0,0:1,2:1,2:0|1:909894_G_T:909894:1,1,2,2 -chr1 909903 . G T . . AS_SB_TABLE=0,0|3,3;DP=6;ECNT=2;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=88;POPAF=7.30;TLOD=24.95 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,6:0.800:6:0,0:0,3:0,3:0|1:909894_G_T:909894:0,0,3,3 -chr1 910255 . C T . . AS_SB_TABLE=1,1|3,2;DP=7;ECNT=1;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=20;POPAF=7.30;TLOD=16.78 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,5:0.667:7:0,0:1,3:1,3:1,1,3,2 -chr1 910462 . G A . . AS_SB_TABLE=4,5|1,1;DP=12;ECNT=1;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=128;POPAF=7.30;TLOD=5.71 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:9,2:0.222:11:1,0:4,1:6,1:4,5,1,1 -chr1 910558 . G A . . AS_SB_TABLE=6,5|3,3;DP=17;ECNT=1;MBQ=35,33;MFRL=0,0;MMQ=60,60;MPOS=60;POPAF=7.30;TLOD=16.90 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:11,6:0.498:17:0,1:5,3:5,5:6,5,3,3 -chr1 910698 . C T . . AS_SB_TABLE=2,2|1,2;DP=7;ECNT=1;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=93;POPAF=7.30;TLOD=9.55 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,3:0.571:7:0,1:2,1:2,3:2,2,1,2 -chr1 910940 . C CT . . AS_SB_TABLE=6,2|1,1;DP=10;ECNT=5;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=93;POPAF=7.30;RPA=4,5;RU=T;STR;TLOD=4.82 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:8,2:0.222:10:0,0:6,1:6,1:6,2,1,1 -chr1 910958 . A G . . AS_SB_TABLE=0,0|7,4;DP=11;ECNT=5;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=58;POPAF=7.30;TLOD=42.05 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,11:0.889:11:0,0:0,7:0,7:0,0,7,4 -chr1 911018 . G A . . AS_SB_TABLE=4,3|6,5;DP=18;ECNT=5;MBQ=35,31;MFRL=0,0;MMQ=60,60;MPOS=24;POPAF=7.30;TLOD=33.25 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,11:0.583:18:1,0:3,6:4,6:4,3,6,5 -chr1 911033 . T C . . AS_SB_TABLE=9,8|1,1;DP=19;ECNT=5;MBQ=34,32;MFRL=0,0;MMQ=60,60;MPOS=140;POPAF=7.30;TLOD=5.31 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:17,2:0.167:19:1,0:8,1:9,1:9,8,1,1 -chr1 911109 . T C . . AS_SB_TABLE=0,0|8,10;DP=19;ECNT=5;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=90;POPAF=7.30;TLOD=66.49 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,18:0.925:18:0,1:0,7:0,11:0,0,8,10 -chr1 911219 . T G . . AS_SB_TABLE=5,5|1,1;DP=12;ECNT=2;MBQ=33,30;MFRL=0,0;MMQ=60,60;MPOS=25;POPAF=7.30;TLOD=5.33 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:10,2:0.250:12:0,0:5,1:5,1:0|1:911219_T_G:911219:5,5,1,1 -chr1 911220 . CT C . . AS_SB_TABLE=0,0|6,6;DP=12;ECNT=2;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=26;POPAF=7.30;RPA=2,1;RU=T;STR;TLOD=45.63 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,12:0.875:12:0,0:0,6:0,6:0|1:911219_T_G:911219:0,0,6,6 -chr1 911848 . C T . . AS_SB_TABLE=4,4|1,1;DP=10;ECNT=2;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=38;POPAF=7.30;TLOD=6.18 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:8,2:0.286:10:0,0:4,1:4,1:4,4,1,1 -chr1 911870 . G A . . AS_SB_TABLE=0,0|7,7;DP=14;ECNT=2;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=63;POPAF=7.30;TLOD=50.17 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,14:0.889:14:0,0:0,7:0,7:0,0,7,7 -chr1 912111 . G A . . AS_SB_TABLE=2,2|1,1;DP=7;ECNT=1;MBQ=34,32;MFRL=0,0;MMQ=60,60;MPOS=9;POPAF=7.30;TLOD=6.23 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,2:0.396:6:0,0:2,1:2,1:2,2,1,1 -chr1 912710 . G A . . AS_SB_TABLE=1,1|1,2;DP=6;ECNT=1;MBQ=32,34;MFRL=0,0;MMQ=60,60;MPOS=4;POPAF=7.30;TLOD=10.25 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,3:0.600:5:0,0:1,1:1,2:1,1,1,2 -chr1 913065 . G A . . AS_SB_TABLE=3,3|2,3;DP=11;ECNT=3;MBQ=32,31;MFRL=0,0;MMQ=60,60;MPOS=23;POPAF=7.30;TLOD=13.01 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,5:0.444:11:2,1:2,2:4,3:3,3,2,3 -chr1 913076 . A G . . AS_SB_TABLE=3,3|3,4;DP=13;ECNT=3;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=31;POPAF=7.30;TLOD=23.19 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,7:0.556:13:1,1:2,3:3,4:3,3,3,4 -chr1 913086 . C T . . AS_SB_TABLE=5,6|1,1;DP=13;ECNT=3;MBQ=35,32;MFRL=0,0;MMQ=60,60;MPOS=34;POPAF=7.30;TLOD=5.51 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:11,2:0.222:13:1,1:5,0:6,1:5,6,1,1 -chr1 913274 . TG T . . AS_SB_TABLE=4,2|3,3;DP=12;ECNT=3;MBQ=31,33;MFRL=0,0;MMQ=60,60;MPOS=77;POPAF=7.30;RPA=3,2;RU=G;STR;TLOD=18.97 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,6:0.444:12:0,0:3,3:4,3:4,2,3,3 -chr1 913337 . C T . . AS_SB_TABLE=6,7|1,1;DP=16;ECNT=3;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=78;POPAF=7.30;TLOD=5.47 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:13,2:0.197:15:0,0:6,1:7,1:6,7,1,1 -chr1 913358 . C T . . AS_SB_TABLE=4,3|3,3;DP=14;ECNT=3;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=70;POPAF=7.30;TLOD=19.36 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,6:0.400:13:0,0:4,3:5,3:4,3,3,3 -chr1 913870 . CCG C . . AS_SB_TABLE=4,4|1,1;DP=13;ECNT=1;MBQ=35,35;MFRL=0,0;MMQ=60,60;MPOS=82;POPAF=7.30;RPA=2,1;RU=CG;STR;TLOD=7.33 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:8,2:0.245:10:0,0:4,1:5,1:4,4,1,1 -chr1 914618 . A G . . AS_SB_TABLE=0,0|4,5;DP=10;ECNT=1;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=96;POPAF=7.30;TLOD=33.21 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,9:0.857:9:0,1:0,3:0,5:0,0,4,5 -chr1 914991 . G T . . AS_SB_TABLE=0,0|0,0;DP=1;ECNT=1;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=19;POPAF=7.30;TLOD=3.38 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 915810 . G A . . AS_SB_TABLE=3,3|6,4;DP=16;ECNT=2;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=78;POPAF=7.30;TLOD=48.47 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:6,10:0.636:16:0,0:3,6:3,6:0|1:915810_G_A:915810:3,3,6,4 -chr1 915824 . G C . . AS_SB_TABLE=3,3|7,7;DP=20;ECNT=2;MBQ=35,35;MFRL=0,0;MMQ=60,60;MPOS=82;POPAF=7.30;TLOD=55.04 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:6,14:0.667:20:0,0:3,7:3,7:0|1:915810_G_A:915810:3,3,7,7 -chr1 916119 . A G . . AS_SB_TABLE=0,0|4,1;DP=5;ECNT=1;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=32;POPAF=7.30;TLOD=17.69 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.833:5:0,0:0,4:0,4:0,0,4,1 -chr1 916254 . G C . . AS_SB_TABLE=6,8|1,1;DP=16;ECNT=1;MBQ=33,31;MFRL=0,0;MMQ=60,60;MPOS=131;POPAF=7.30;TLOD=5.20 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:14,2:0.182:16:2,0:6,1:8,1:6,8,1,1 -chr1 916377 . A G . . AS_SB_TABLE=0,0|2,2;DP=4;ECNT=1;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=28;POPAF=7.30;TLOD=14.71 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.800:4:0,1:0,2:0,3:0,0,2,2 -chr1 916657 . G A . . AS_SB_TABLE=2,2|6,7;DP=18;ECNT=3;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=87;POPAF=7.30;TLOD=45.17 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,13:0.692:17:1,1:2,6:3,8:2,2,6,7 -chr1 916683 . G A . . AS_SB_TABLE=3,3|4,5;DP=16;ECNT=3;MBQ=32,32;MFRL=0,0;MMQ=60,60;MPOS=90;POPAF=7.30;TLOD=30.17 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,9:0.546:15:1,1:3,4:4,5:3,3,4,5 -chr1 916753 . C T . . AS_SB_TABLE=0,0|5,7;DP=12;ECNT=3;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=78;POPAF=7.30;TLOD=43.87 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,12:0.900:12:0,1:0,5:0,8:0,0,5,7 -chr1 917166 . C T . . AS_SB_TABLE=11,8|1,1;DP=21;ECNT=1;MBQ=34,31;MFRL=0,0;MMQ=60,60;MPOS=122;POPAF=7.30;TLOD=4.86 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:19,2:0.143:21:0,0:11,1:11,1:11,8,1,1 -chr1 917284 . C T . . AS_SB_TABLE=3,3|2,3;DP=11;ECNT=2;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=65;POPAF=7.30;TLOD=15.64 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,5:0.444:11:1,1:3,2:4,3:3,3,2,3 -chr1 917378 . G C . . AS_SB_TABLE=8,6|4,1;DP=19;ECNT=2;MBQ=34,35;MFRL=0,0;MMQ=60,60;MPOS=73;POPAF=7.30;TLOD=15.48 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:14,5:0.333:19:1,0:8,4:9,4:8,6,4,1 -chr1 917495 . C T . . AS_SB_TABLE=4,4|7,8;DP=23;ECNT=1;MBQ=34,32;MFRL=0,0;MMQ=60,60;MPOS=26;POPAF=7.30;TLOD=45.76 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:8,15:0.600:23:1,1:4,6:5,8:4,4,7,8 -chr1 917584 . T G . . AS_SB_TABLE=0,0|8,5;DP=13;ECNT=1;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=97;POPAF=7.30;TLOD=47.30 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,13:0.909:13:0,1:0,8:0,9:0,0,8,5 -chr1 917859 . A G . . AS_SB_TABLE=3,4|3,3;DP=13;ECNT=1;MBQ=32,31;MFRL=0,0;MMQ=60,60;MPOS=68;POPAF=7.30;TLOD=15.85 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,6:0.400:13:2,0:3,3:5,3:3,4,3,3 -chr1 918443 . C A . . AS_SB_TABLE=2,0|2,2;DP=7;ECNT=1;MBQ=31,33;MFRL=0,0;MMQ=60,60;MPOS=96;POPAF=7.30;TLOD=13.13 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,4:0.571:6:0,0:2,2:2,3:2,0,2,2 -chr1 918574 . C A . . AS_SB_TABLE=1,2|2,3;DP=8;ECNT=1;MBQ=35,32;MFRL=0,0;MMQ=60,60;MPOS=20;POPAF=7.30;TLOD=16.20 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,5:0.571:8:1,1:1,2:2,3:1,2,2,3 -chr1 918870 . A G . . AS_SB_TABLE=2,2|2,2;DP=8;ECNT=2;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=80;POPAF=7.30;TLOD=13.53 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:4,4:0.429:8:0,0:2,2:3,2:0|1:918870_A_G:918870:2,2,2,2 -chr1 918888 . T C . . AS_SB_TABLE=3,2|1,1;DP=9;ECNT=2;MBQ=32,32;MFRL=0,0;MMQ=60,60;MPOS=81;POPAF=7.30;TLOD=5.92 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 1|0:5,2:0.329:7:0,0:3,1:3,1:1|0:918870_A_G:918870:3,2,1,1 -chr1 919297 . A T . . AS_SB_TABLE=3,4|1,1;DP=9;ECNT=1;MBQ=32,31;MFRL=0,0;MMQ=60,60;MPOS=113;POPAF=7.30;TLOD=5.87 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,2:0.286:9:0,0:3,1:4,1:3,4,1,1 -chr1 919397 . A G . . AS_SB_TABLE=1,1|6,6;DP=14;ECNT=1;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=75;POPAF=7.30;TLOD=43.57 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,12:0.778:14:0,0:1,6:1,6:1,1,6,6 -chr1 919598 . A C . . AS_SB_TABLE=5,6|4,4;DP=19;ECNT=1;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=52;POPAF=7.30;TLOD=26.45 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:11,8:0.417:19:1,0:5,4:6,4:5,6,4,4 -chr1 919695 . C G . . AS_SB_TABLE=1,3|1,2;DP=8;ECNT=1;MBQ=35,34;MFRL=0,0;MMQ=60,60;MPOS=84;POPAF=7.30;TLOD=9.51 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,3:0.429:7:1,1:1,1:3,2:1,3,1,2 -chr1 920331 . C G . . AS_SB_TABLE=11,8|1,1;DP=22;ECNT=1;MBQ=35,30;MFRL=0,0;MMQ=60,60;MPOS=59;POPAF=7.30;TLOD=4.75 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:19,2:0.141:21:0,0:11,1:11,1:11,8,1,1 -chr1 920719 . T G . . AS_SB_TABLE=5,6|3,4;DP=18;ECNT=2;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=55;POPAF=7.30;TLOD=28.14 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:11,7:0.417:18:1,1:5,3:6,4:0|1:920719_T_G:920719:5,6,3,4 -chr1 920728 . A G . . AS_SB_TABLE=5,6|3,4;DP=18;ECNT=2;MBQ=32,32;MFRL=0,0;MMQ=60,60;MPOS=61;POPAF=7.30;TLOD=28.14 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:11,7:0.417:18:1,1:5,3:6,4:0|1:920719_T_G:920719:5,6,3,4 -chr1 921056 . TG T . . AS_SB_TABLE=3,2|1,1;DP=7;ECNT=2;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=82;POPAF=7.30;RPA=4,3;RU=G;STR;TLOD=3.77 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:5,2:0.335:7:0,0:2,1:3,1:3,2,1,1 -chr1 921096 . A G . . AS_SB_TABLE=2,2|2,1;DP=7;ECNT=2;MBQ=31,31;MFRL=0,0;MMQ=60,60;MPOS=58;POPAF=7.30;TLOD=7.00 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,3:0.500:7:0,0:2,2:2,2:2,2,2,1 -chr1 922226 . C T . . AS_SB_TABLE=3,2|1,1;DP=7;ECNT=1;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=80;POPAF=7.30;TLOD=6.25 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:5,2:0.333:7:0,0:3,1:3,1:3,2,1,1 -chr1 922348 . T G . . AS_SB_TABLE=1,0|5,5;DP=11;ECNT=1;MBQ=31,34;MFRL=0,0;MMQ=60,60;MPOS=76;POPAF=7.30;TLOD=37.44 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,10:0.778:11:0,1:1,5:1,6:1,0,5,5 -chr1 922660 . C A . . AS_SB_TABLE=0,0|2,1;DP=3;ECNT=2;MBQ=0,29;MFRL=0,0;MMQ=60,60;MPOS=57;POPAF=7.30;TLOD=10.15 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.750:3:0,0:0,2:0,2:0,0,2,1 -chr1 922671 . C T . . AS_SB_TABLE=0,0|2,1;DP=3;ECNT=2;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=46;POPAF=7.30;TLOD=10.65 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.750:3:0,0:0,2:0,2:0,0,2,1 -chr1 923421 . A G . . AS_SB_TABLE=0,0|0,0;DP=1;ECNT=1;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=41;POPAF=7.30;TLOD=3.48 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 924024 . C G . . AS_SB_TABLE=0,0|4,3;DP=7;ECNT=1;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=90;POPAF=7.30;TLOD=25.34 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,7:0.833:7:0,0:0,4:0,4:0,0,4,3 -chr1 924305 . G A . . AS_SB_TABLE=3,2|1,2;DP=10;ECNT=4;MBQ=35,32;MFRL=0,0;MMQ=60,60;MPOS=112;POPAF=7.30;TLOD=11.69 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:5,3:0.427:8:0,1:3,1:3,2:0|1:924305_G_A:924305:3,2,1,2 -chr1 924310 . C G . . AS_SB_TABLE=0,0|4,5;DP=9;ECNT=4;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=60;POPAF=7.30;TLOD=35.98 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,9:0.857:9:0,1:0,4:0,5:0,0,4,5 -chr1 924314 . C A . . AS_SB_TABLE=3,3|1,2;DP=12;ECNT=4;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=121;POPAF=7.30;TLOD=11.66 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:6,3:0.426:9:0,1:3,1:3,2:0|1:924305_G_A:924305:3,3,1,2 -chr1 924321 . C G . . AS_SB_TABLE=0,0|8,7;DP=15;ECNT=4;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=12;POPAF=7.30;TLOD=58.21 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,15:0.909:15:0,1:0,7:0,9:0,0,8,7 -chr1 924533 . A G . . AS_SB_TABLE=0,0|11,14;DP=25;ECNT=1;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=85;POPAF=7.30;TLOD=91.24 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,25:0.937:25:0,2:0,11:0,14:0,0,11,14 -chr1 925036 . G A . . AS_SB_TABLE=1,1|1,2;DP=6;ECNT=2;MBQ=31,33;MFRL=0,0;MMQ=60,60;MPOS=53;POPAF=7.30;TLOD=10.25 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,3:0.600:5:0,0:1,1:1,2:1,1,1,2 -chr1 925081 . G A . . AS_SB_TABLE=0,0|1,2;DP=3;ECNT=2;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=98;POPAF=7.30;TLOD=10.15 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.750:3:0,0:0,1:0,2:0,0,1,2 -chr1 925628 . G C . . AS_SB_TABLE=0,0|2,2;DP=4;ECNT=1;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=100;POPAF=7.30;TLOD=15.23 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.750:4:0,0:0,2:0,2:0,0,2,2 -chr1 926250 . G A . . AS_SB_TABLE=1,0|3,3;DP=7;ECNT=1;MBQ=28,33;MFRL=0,0;MMQ=60,60;MPOS=53;POPAF=7.30;TLOD=20.96 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,6:0.667:7:0,0:1,3:1,3:1,0,3,3 -chr1 926428 . A G . . AS_SB_TABLE=0,0|3,5;DP=10;ECNT=1;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=81;POPAF=7.30;TLOD=29.28 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.864:8:0,0:0,3:0,5:0,0,3,5 -chr1 926713 . T C . . AS_SB_TABLE=0,0|2,1;DP=3;ECNT=2;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=81;POPAF=7.30;TLOD=10.95 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.750:3:0,0:0,2:0,2:0,0,2,1 -chr1 926744 . A G . . AS_SB_TABLE=0,0|0,0;DP=4;ECNT=2;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=57;POPAF=7.30;TLOD=7.08 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.684:2:0,0:0,1:0,1:0,0,1,1 -chr1 927003 . C T . . AS_SB_TABLE=0,0|1,2;DP=3;ECNT=2;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=57;POPAF=7.30;TLOD=13.02 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.750:3:0,1:0,1:0,2:0|1:927003_C_T:927003:0,0,1,2 -chr1 927009 . A G . . AS_SB_TABLE=0,0|1,2;DP=3;ECNT=2;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=63;POPAF=7.30;TLOD=13.02 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.750:3:0,1:0,1:0,2:0|1:927003_C_T:927003:0,0,1,2 -chr1 927443 . C T . . AS_SB_TABLE=3,4|1,1;DP=9;ECNT=2;MBQ=35,33;MFRL=0,0;MMQ=60,60;MPOS=57;POPAF=7.30;TLOD=5.98 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,2:0.286:9:0,0:3,1:4,1:3,4,1,1 -chr1 927486 . C T . . AS_SB_TABLE=2,4|2,2;DP=14;ECNT=2;MBQ=32,32;MFRL=0,0;MMQ=60,60;MPOS=70;POPAF=7.30;TLOD=12.43 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,4:0.372:10:0,0:2,2:4,2:2,4,2,2 -chr1 927744 . G T . . AS_SB_TABLE=0,0|6,5;DP=11;ECNT=1;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=67;POPAF=7.30;TLOD=40.47 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,11:0.875:11:0,0:0,6:0,6:0,0,6,5 -chr1 928176 . G A . . AS_SB_TABLE=0,0|0,0;DP=1;ECNT=2;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=132;POPAF=7.30;TLOD=4.20 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,1:0,0:0,1:0|1:928176_G_A:928176:0,0,0,1 -chr1 928182 . A C . . AS_SB_TABLE=0,0|0,0;DP=1;ECNT=2;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=138;POPAF=7.30;TLOD=4.20 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,1:0,0:0,1:0|1:928176_G_A:928176:0,0,0,1 -chr1 928622 . G C . . AS_SB_TABLE=0,0|1,2;DP=3;ECNT=1;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=61;POPAF=7.30;TLOD=10.45 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.750:3:0,1:0,1:0,2:0,0,1,2 -chr1 929346 . T A . . AS_SB_TABLE=0,0|1,2;DP=4;ECNT=3;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=107;POPAF=7.30;TLOD=10.73 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.800:3:0,1:0,1:0,3:0,0,1,2 -chr1 929375 . A G . . AS_SB_TABLE=0,0|1,2;DP=3;ECNT=3;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=39;POPAF=7.30;TLOD=13.02 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.750:3:0,1:0,1:0,2:0|1:929375_A_G:929375:0,0,1,2 -chr1 929377 . G A . . AS_SB_TABLE=0,0|1,2;DP=3;ECNT=3;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=41;POPAF=7.30;TLOD=13.02 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.750:3:0,1:0,1:0,2:0|1:929375_A_G:929375:0,0,1,2 -chr1 929839 . G A . . AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=140;POPAF=7.30;TLOD=3.15 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,1:0.500:2:0,0:1,1:1,1:1,0,1,0 -chr1 930939 . G A . . AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=57;POPAF=7.30;TLOD=7.25 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 931513 . T C . . AS_SB_TABLE=1,0|1,1;DP=3;ECNT=3;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=84;POPAF=7.30;TLOD=6.58 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,2:0.500:3:0,0:1,1:1,1:1,0,1,1 -chr1 931540 . A G . . AS_SB_TABLE=0,0|2,2;DP=4;ECNT=3;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=114;POPAF=7.30;TLOD=14.23 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.750:4:0,0:0,2:0,2:0,0,2,2 -chr1 931558 . G A . . AS_SB_TABLE=2,1|2,1;DP=6;ECNT=3;MBQ=32,32;MFRL=0,0;MMQ=60,60;MPOS=99;POPAF=7.30;TLOD=9.35 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,3:0.500:6:0,0:2,2:2,2:2,1,2,1 -chr1 932204 . A T . . AS_SB_TABLE=0,0|0,0;DP=1;ECNT=2;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=28;POPAF=7.30;TLOD=3.48 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 932255 . C T . . AS_SB_TABLE=1,1|2,1;DP=5;ECNT=2;MBQ=33,31;MFRL=0,0;MMQ=60,60;MPOS=101;POPAF=7.30;TLOD=9.65 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,3:0.600:5:0,0:1,2:1,2:1,1,2,1 -chr1 932512 . G A . . AS_SB_TABLE=0,1|1,1;DP=3;ECNT=1;MBQ=31,33;MFRL=0,0;MMQ=60,60;MPOS=104;POPAF=7.30;TLOD=6.45 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,2:0.500:3:1,0:0,1:1,1:0,1,1,1 -chr1 932613 . GTTTC G . . AS_SB_TABLE=0,0|0,0;DP=4;ECNT=1;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=38;POPAF=7.30;RPA=2,1;RU=TTTC;STR;TLOD=6.74 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.687:2:0,0:0,1:0,1:0,0,1,1 -chr1 933511 . A G . . AS_SB_TABLE=0,0|0,0;DP=2;ECNT=2;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=73;POPAF=7.30;TLOD=7.55 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 933548 . A AG . . AS_SB_TABLE=0,0|0,0;DP=2;ECNT=2;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=110;POPAF=7.30;RPA=6,7;RU=G;STR;TLOD=5.92 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 936972 . G C . . AS_SB_TABLE=0,0|2,2;DP=4;ECNT=1;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=98;POPAF=7.30;TLOD=14.73 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.750:4:0,0:0,2:0,2:0,0,2,2 -chr1 937396 . GCC G . . AS_SB_TABLE=0,0|0,0;DP=1;ECNT=1;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=125;POPAF=7.30;RPA=11,9;RU=C;STR;TLOD=3.25 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,0:0,1:0,0,0,1 -chr1 938222 . G A . . AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=3;POPAF=7.30;TLOD=7.05 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 938650 . G A . . AS_SB_TABLE=0,0|0,0;DP=1;ECNT=1;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=147;POPAF=7.30;TLOD=3.28 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 939038 . A C . . AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=19;POPAF=7.30;TLOD=7.15 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 939864 . G A . . AS_SB_TABLE=2,2|1,1;DP=6;ECNT=1;MBQ=35,31;MFRL=0,0;MMQ=60,60;MPOS=49;POPAF=7.30;TLOD=5.97 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,2:0.400:6:0,0:2,1:2,1:2,2,1,1 -chr1 941119 . A G . . AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=21;POPAF=7.30;TLOD=7.31 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 941767 . G A . . AS_SB_TABLE=4,4|2,2;DP=12;ECNT=1;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=77;POPAF=7.30;TLOD=12.66 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:8,4:0.375:12:0,0:4,2:4,2:4,4,2,2 -chr1 942335 . C G . . AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=43;POPAF=7.30;TLOD=7.15 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 942451 . T C . . AS_SB_TABLE=0,0|4,1;DP=5;ECNT=1;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=45;POPAF=7.30;TLOD=18.09 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.833:5:0,0:0,4:0,4:0,0,4,1 -chr1 942701 . GGC G . . AS_SB_TABLE=17,18|1,1;DP=37;ECNT=1;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=69;POPAF=7.30;RPA=2,1;RU=GC;STR;TLOD=6.27 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:35,2:0.091:37:1,0:17,1:19,1:17,18,1,1 -chr1 943946 . C T . . AS_SB_TABLE=25,21|1,1;DP=48;ECNT=1;MBQ=34,32;MFRL=0,0;MMQ=60,60;MPOS=117;POPAF=7.30;TLOD=4.44 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:46,2:0.067:48:2,0:25,1:27,1:25,21,1,1 -chr1 944259 . CAA C . . AS_SB_TABLE=42,42|1,1;DP=87;ECNT=3;MBQ=34,34;MFRL=0,0;MMQ=60,60;MPOS=100;POPAF=7.30;RPA=6,4;RU=A;STR;TLOD=5.41 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:84,2:0.039:86:0,0:43,1:48,1:42,42,1,1 -chr1 944296 . G A . . AS_SB_TABLE=1,1|55,48;DP=106;ECNT=3;MBQ=29,32;MFRL=0,0;MMQ=60,60;MPOS=89;POPAF=7.30;TLOD=367.81 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,103:0.984:105:0,0:0,55:0,60:1,1,55,48 -chr1 944307 . T C . . AS_SB_TABLE=0,0|55,51;DP=107;ECNT=3;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=85;POPAF=7.30;TLOD=398.76 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,106:0.984:106:0,0:0,55:0,62:0,0,55,51 -chr1 944573 . T A . . AS_SB_TABLE=34,39|1,1;DP=82;ECNT=1;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=112;POPAF=7.30;TLOD=4.03 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:73,2:0.043:75:9,0:34,1:43,1:34,39,1,1 -chr1 944722 . T C . . AS_SB_TABLE=26,29|1,1;DP=59;ECNT=1;MBQ=33,34;MFRL=0,0;MMQ=59,60;MPOS=22;POPAF=7.30;TLOD=4.74 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:55,2:0.060:57:3,0:26,1:30,1:26,29,1,1 -chr1 944858 . A G . . AS_SB_TABLE=0,0|2,2;DP=4;ECNT=1;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=67;POPAF=7.30;TLOD=14.83 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.750:4:0,0:0,2:0,2:0,0,2,2 -chr1 945259 . TC T . . AS_SB_TABLE=2,1|0,2;DP=5;ECNT=1;MBQ=34,31;MFRL=0,0;MMQ=60,60;MPOS=53;POPAF=7.30;RPA=2,1;RU=C;STR;TLOD=6.00 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,2:0.500:5:0,0:2,0:2,2:2,1,0,2 -chr1 945827 . A T . . AS_SB_TABLE=5,3|1,1;DP=10;ECNT=1;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=45;POPAF=7.30;TLOD=5.83 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:8,2:0.250:10:0,0:5,1:5,1:5,3,1,1 -chr1 946247 . G A . . AS_SB_TABLE=2,2|1,1;DP=6;ECNT=1;MBQ=34,33;MFRL=0,0;MMQ=60,39;MPOS=45;POPAF=7.30;TLOD=6.15 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,2:0.333:6:1,0:2,1:3,1:2,2,1,1 -chr1 946538 . G A . . AS_SB_TABLE=2,2|1,1;DP=6;ECNT=1;MBQ=33,34;MFRL=0,0;MMQ=60,31;MPOS=10;POPAF=7.30;TLOD=4.87 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,2:0.500:6:0,1:2,1:2,2:2,2,1,1 -chr1 947371 . T C . . AS_SB_TABLE=3,1|1,1;DP=6;ECNT=2;MBQ=32,34;MFRL=0,0;MMQ=60,60;MPOS=37;POPAF=7.30;TLOD=6.35 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,2:0.333:6:0,0:3,1:3,1:3,1,1,1 -chr1 947423 . A G . . AS_SB_TABLE=0,0|5,3;DP=9;ECNT=2;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=97;POPAF=7.30;TLOD=29.94 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.857:8:0,0:0,5:0,5:0,0,5,3 -chr1 948245 . A G . . AS_SB_TABLE=0,0|0,0;DP=1;ECNT=1;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=59;POPAF=7.30;TLOD=3.48 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 948711 . C G . . AS_SB_TABLE=0,0|3,2;DP=5;ECNT=1;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=109;POPAF=7.30;TLOD=18.88 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.800:5:0,0:0,3:0,3:0,0,3,2 -chr1 949171 . GAGAA G . . AS_SB_TABLE=1,1|2,1;DP=7;ECNT=1;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=26;POPAF=7.30;TLOD=12.40 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,3:0.606:5:0,0:1,2:1,2:1,1,2,1 -chr1 949435 . A G . . AS_SB_TABLE=0,0|2,2;DP=4;ECNT=1;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=46;POPAF=7.30;TLOD=14.43 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.750:4:0,0:0,2:0,2:0,0,2,2 -chr1 949628 . C A . . AS_SB_TABLE=2,2|1,1;DP=6;ECNT=1;MBQ=33,31;MFRL=0,0;MMQ=60,60;MPOS=78;POPAF=7.30;TLOD=5.97 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,2:0.400:6:0,0:2,1:2,1:2,2,1,1 -chr1 950319 . A G . . AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=128;POPAF=7.30;TLOD=7.25 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 952421 . A G . . AS_SB_TABLE=0,0|1,2;DP=8;ECNT=1;MBQ=0,33;MFRL=0,0;MMQ=60,42;MPOS=142;POPAF=7.30;TLOD=10.90 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.787:3:0,1:0,1:0,2:0,0,1,2 -chr1 952567 . A G . . AS_SB_TABLE=13,15|1,1;DP=31;ECNT=1;MBQ=32,30;MFRL=0,0;MMQ=48,53;MPOS=12;POPAF=7.30;TLOD=4.46 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:28,2:0.104:30:3,0:13,1:16,1:13,15,1,1 -chr1 953259 . T C . . AS_SB_TABLE=0,0|2,4;DP=6;ECNT=2;MBQ=0,33;MFRL=0,0;MMQ=60,54;MPOS=114;POPAF=7.30;TLOD=17.66 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.855:6:0,2:0,2:0,5:0,0,2,4 -chr1 953279 . T C . . AS_SB_TABLE=0,0|1,4;DP=5;ECNT=2;MBQ=0,34;MFRL=0,0;MMQ=60,48;MPOS=108;POPAF=7.30;TLOD=17.30 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.857:5:0,3:0,1:0,5:0,0,1,4 -chr1 953778 . GA CC . . AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=69;POPAF=7.30;TLOD=8.52 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.750:2:0,1:0,0:0,2:0,0,0,2 -chr1 954258 . G C . . AS_SB_TABLE=0,0|5,6;DP=12;ECNT=2;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=40;POPAF=7.30;TLOD=40.72 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,11:0.893:11:0,1:0,5:0,7:0,0,5,6 -chr1 954333 . C A . . AS_SB_TABLE=0,0|9,7;DP=17;ECNT=2;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=88;POPAF=7.30;TLOD=56.99 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,16:0.917:16:0,0:0,9:0,10:0,0,9,7 -chr1 954574 . A G . . AS_SB_TABLE=0,0|2,2;DP=4;ECNT=1;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=94;POPAF=7.30;TLOD=15.23 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.750:4:0,0:0,2:0,2:0,0,2,2 -chr1 954827 . GA G . . AS_SB_TABLE=0,0|2,1;DP=6;ECNT=1;MBQ=0,29;MFRL=0,0;MMQ=60,60;MPOS=29;POPAF=7.30;RPA=11,10;RU=A;STR;TLOD=6.07 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.764:3:0,0:0,1:0,2:0,0,2,1 -chr1 955384 . C T . . AS_SB_TABLE=6,7|1,1;DP=17;ECNT=1;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=73;POPAF=7.30;TLOD=5.60 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:13,2:0.182:15:0,0:6,1:8,1:6,7,1,1 -chr1 955641 . G A . . AS_SB_TABLE=0,0|4,4;DP=9;ECNT=2;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=36;POPAF=7.30;TLOD=25.25 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.841:8:0,0:0,4:0,4:0,0,4,4 -chr1 955679 . C T . . AS_SB_TABLE=1,1|2,1;DP=5;ECNT=2;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=28;POPAF=7.30;TLOD=9.92 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,3:0.600:5:0,0:1,2:1,2:1,1,2,1 -chr1 956565 . A G . . AS_SB_TABLE=0,2|2,2;DP=6;ECNT=1;MBQ=31,33;MFRL=0,0;MMQ=60,60;MPOS=38;POPAF=7.30;TLOD=13.13 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,4:0.572:6:1,1:0,2:2,3:0,2,2,2 -chr1 957365 . G A . . AS_SB_TABLE=0,0|6,6;DP=12;ECNT=1;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=82;POPAF=7.30;TLOD=42.72 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,12:0.889:12:0,1:0,6:0,7:0,0,6,6 -chr1 957900 . G A . . AS_SB_TABLE=0,0|5,6;DP=13;ECNT=1;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=64;POPAF=7.30;TLOD=39.58 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,11:0.880:11:0,0:0,5:0,6:0,0,5,6 -chr1 958810 . T TG . . AS_SB_TABLE=5,7|1,1;DP=17;ECNT=1;MBQ=33,31;MFRL=0,0;MMQ=60,60;MPOS=95;POPAF=7.30;RPA=6,7;RU=G;STR;TLOD=4.30 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:12,2:0.192:14:0,0:5,1:7,1:5,7,1,1 -chr1 959193 . G A . . AS_SB_TABLE=0,0|1,2;DP=3;ECNT=1;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=14;POPAF=7.30;TLOD=10.63 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.750:3:0,0:0,1:0,2:0,0,1,2 -chr1 960891 . C T . . AS_SB_TABLE=0,0|1,2;DP=3;ECNT=1;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=98;POPAF=7.30;TLOD=10.55 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.750:3:0,1:0,1:0,2:0,0,1,2 -chr1 961096 . A G . . AS_SB_TABLE=0,0|3,4;DP=8;ECNT=1;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=87;POPAF=7.30;TLOD=24.13 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,7:0.864:7:0,1:0,3:0,5:0,0,3,4 -chr1 961945 . G C . . AS_SB_TABLE=0,0|11,14;DP=26;ECNT=2;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=81;POPAF=7.30;TLOD=95.02 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,25:0.941:25:0,3:0,11:0,15:0,0,11,14 -chr1 962001 . T A . . AS_SB_TABLE=5,7|1,1;DP=14;ECNT=2;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=134;POPAF=7.30;TLOD=5.50 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:12,2:0.200:14:0,0:5,1:7,1:5,7,1,1 -chr1 962184 . T C . . AS_SB_TABLE=0,0|5,3;DP=10;ECNT=1;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=27;POPAF=7.30;TLOD=29.35 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.864:8:0,0:0,5:0,5:0,0,5,3 -chr1 962943 . T C . . AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=81;POPAF=7.30;TLOD=7.35 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 964218 . C G . . AS_SB_TABLE=2,1|1,1;DP=5;ECNT=1;MBQ=35,30;MFRL=0,0;MMQ=60,60;MPOS=90;POPAF=7.30;TLOD=5.45 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,2:0.400:5:0,0:2,1:2,1:2,1,1,1 -chr1 965125 . G C . . AS_SB_TABLE=7,6|9,8;DP=30;ECNT=1;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=72;POPAF=7.30;TLOD=58.41 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:13,17:0.600:30:0,2:7,9:7,11:7,6,9,8 -chr1 965337 . CTTAT C . . AS_SB_TABLE=4,4|7,8;DP=24;ECNT=2;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=63;POPAF=7.30;RPA=2,1;RU=TTAT;STR;TLOD=63.05 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:8,15:0.625:23:0,0:3,8:5,9:0|1:965337_CTTAT_C:965337:4,4,7,8 -chr1 965350 . G A . . AS_SB_TABLE=0,0|11,11;DP=23;ECNT=2;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=72;POPAF=7.30;TLOD=92.19 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,22:0.937:22:0,0:0,11:0,14:0|1:965337_CTTAT_C:965337:0,0,11,11 -chr1 965592 . T G . . AS_SB_TABLE=0,0|10,11;DP=24;ECNT=4;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=22;POPAF=7.30;TLOD=80.81 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,21:0.927:21:0,1:0,10:0,11:0,0,10,11 -chr1 965615 . C T . . AS_SB_TABLE=10,11|1,1;DP=23;ECNT=4;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=119;POPAF=7.30;TLOD=5.36 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:21,2:0.143:23:1,0:10,1:11,1:10,11,1,1 -chr1 965643 . T C . . AS_SB_TABLE=0,0|10,11;DP=21;ECNT=4;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=72;POPAF=7.30;TLOD=78.84 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,21:0.923:21:0,1:0,10:0,11:0,0,10,11 -chr1 965666 . ACC A . . AS_SB_TABLE=6,6|3,4;DP=20;ECNT=4;MBQ=32,32;MFRL=0,0;MMQ=60,60;MPOS=83;POPAF=7.30;RPA=4,2;RU=C;STR;TLOD=28.13 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:12,7:0.416:19:0,0:6,3:6,4:6,6,3,4 -chr1 966179 . G A . . AS_SB_TABLE=0,0|0,0;DP=4;ECNT=3;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=17;POPAF=7.30;TLOD=3.21 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.684:2:0,0:0,1:0,1:0,0,1,1 -chr1 966227 . C G . . AS_SB_TABLE=0,0|2,2;DP=4;ECNT=3;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=69;POPAF=7.30;TLOD=14.43 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.750:4:0,0:0,2:0,2:0,0,2,2 -chr1 966272 . A G . . AS_SB_TABLE=0,0|2,2;DP=4;ECNT=3;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=24;POPAF=7.30;TLOD=14.83 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.750:4:0,0:0,2:0,2:0,0,2,2 -chr1 966665 . T C . . AS_SB_TABLE=0,0|0,0;DP=2;ECNT=2;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=113;POPAF=7.30;TLOD=7.45 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 966770 . C T . . AS_SB_TABLE=1,1|1,1;DP=4;ECNT=2;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=124;POPAF=7.30;TLOD=6.66 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.500:4:0,0:1,1:1,1:1,1,1,1 -chr1 967376 . AC A . . AS_SB_TABLE=0,0|3,1;DP=4;ECNT=2;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=46;POPAF=7.30;RPA=10,9;RU=C;STR;TLOD=17.40 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,4:0.800:4:0,0:0,3:0,3:0|1:967376_AC_A:967376:0,0,3,1 -chr1 967384 . C G . . AS_SB_TABLE=0,0|3,1;DP=4;ECNT=2;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=53;POPAF=7.30;TLOD=17.40 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,4:0.800:4:0,0:0,3:0,3:0|1:967376_AC_A:967376:0,0,3,1 -chr1 968841 . T C . . AS_SB_TABLE=1,1|1,1;DP=4;ECNT=1;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=113;POPAF=7.30;TLOD=6.68 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.500:4:0,0:1,1:1,1:1,1,1,1 -chr1 969377 . A ATG . . AS_SB_TABLE=0,0|2,3;DP=5;ECNT=1;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=52;POPAF=7.30;RPA=3,4;RU=TG;STR;TLOD=17.13 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.800:5:0,1:0,2:0,3:0,0,2,3 -chr1 969663 . CAT C . . AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=67;POPAF=7.30;RPA=2,1;RU=AT;STR;TLOD=8.70 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 970005 . G A . . AS_SB_TABLE=2,0|1,1;DP=4;ECNT=1;MBQ=34,29;MFRL=0,0;MMQ=41,60;MPOS=43;POPAF=7.30;TLOD=5.57 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.400:4:0,0:2,1:2,1:2,0,1,1 -chr1 970874 . C G . . AS_SB_TABLE=0,1|1,1;DP=3;ECNT=1;MBQ=32,29;MFRL=0,0;MMQ=60,60;MPOS=90;POPAF=7.30;TLOD=5.97 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,2:0.500:3:1,0:0,1:1,1:0,1,1,1 -chr1 971513 . G A . . AS_SB_TABLE=1,0|1,1;DP=3;ECNT=1;MBQ=32,30;MFRL=0,0;MMQ=60,60;MPOS=3;POPAF=7.30;TLOD=6.18 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,2:0.500:3:0,0:1,1:1,1:1,0,1,1 -chr1 973841 . T C . . AS_SB_TABLE=0,0|0,0;DP=1;ECNT=1;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=52;POPAF=7.30;TLOD=3.58 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 973929 . T C . . AS_SB_TABLE=1,1|1,1;DP=4;ECNT=1;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=115;POPAF=7.30;TLOD=6.98 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.500:4:0,0:1,1:1,1:1,1,1,1 -chr1 974388 . A G . . AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=110;POPAF=7.30;TLOD=7.05 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 975139 . G T . . AS_SB_TABLE=0,0|0,0;DP=1;ECNT=1;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=67;POPAF=7.30;TLOD=3.25 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 975447 . T C . . AS_SB_TABLE=4,2|1,2;DP=9;ECNT=3;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=136;POPAF=7.30;TLOD=6.28 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,3:0.286:9:0,0:4,1:4,1:4,2,1,2 -chr1 975492 . GCT G . . AS_SB_TABLE=3,4|1,1;DP=9;ECNT=3;MBQ=35,33;MFRL=0,0;MMQ=60,60;MPOS=57;POPAF=7.30;RPA=2,1;RU=CT;STR;TLOD=7.52 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,2:0.286:9:0,0:3,1:4,1:3,4,1,1 -chr1 975523 . T C . . AS_SB_TABLE=3,3|3,2;DP=11;ECNT=3;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=18;POPAF=7.30;TLOD=16.54 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,5:0.500:11:0,0:3,3:3,3:3,3,3,2 -chr1 976215 . A G . . AS_SB_TABLE=5,7|3,3;DP=20;ECNT=1;MBQ=32,34;MFRL=0,0;MMQ=60,60;MPOS=65;POPAF=7.30;TLOD=19.72 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:12,6:0.332:18:1,0:5,3:7,3:5,7,3,3 -chr1 997238 . C G . . AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=94;POPAF=7.30;TLOD=6.98 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.750:2:0,0:0,2:0,2:0,0,2,0 -chr1 997987 . G A . . AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;MBQ=0,28;MFRL=0,0;MMQ=60,60;MPOS=94;POPAF=7.30;TLOD=6.25 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 998935 . CA C . . AS_SB_TABLE=1,2|1,1;DP=6;ECNT=2;MBQ=34,34;MFRL=0,0;MMQ=60,60;MPOS=113;POPAF=7.30;RPA=3,2;RU=A;STR;TLOD=5.07 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,2:0.400:5:0,0:2,1:2,1:1,2,1,1 -chr1 999005 . G A . . AS_SB_TABLE=33,28|28,18;DP=108;ECNT=2;MBQ=34,32;MFRL=0,0;MMQ=60,60;MPOS=124;POPAF=7.30;TLOD=151.05 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:61,46:0.460:107:0,0:33,28:33,28:33,28,28,18 -chr1 999577 . G A . . AS_SB_TABLE=25,28|1,1;DP=55;ECNT=1;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=84;POPAF=7.30;TLOD=4.24 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:53,2:0.048:55:13,0:25,1:39,1:25,28,1,1 -chr1 999842 . C A . . AS_SB_TABLE=4,5|18,20;DP=52;ECNT=1;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=39;POPAF=7.30;TLOD=126.50 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:9,38:0.818:47:0,2:3,17:5,24:4,5,18,20 -chr1 1000079 . A G . . AS_SB_TABLE=0,0|40,48;DP=90;ECNT=4;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=19;POPAF=7.30;TLOD=338.09 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,88:0.981:88:0,8:0,40:0,49:0,0,40,48 -chr1 1000112 . G T . . AS_SB_TABLE=0,0|9,10;DP=29;ECNT=4;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=42;POPAF=7.30;TLOD=64.39 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,19:0.929:19:0,0:0,8:0,10:0,0,9,10 -chr1 1000134 . C T . . AS_SB_TABLE=8,8|1,1;DP=18;ECNT=4;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=112;POPAF=7.30;TLOD=5.51 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:16,2:0.167:18:0,0:8,1:9,1:8,8,1,1 -chr1 1000207 . C G . . AS_SB_TABLE=14,11|1,1;DP=29;ECNT=4;MBQ=33,29;MFRL=0,0;MMQ=60,60;MPOS=73;POPAF=7.30;TLOD=4.36 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:25,2:0.116:27:0,0:14,1:14,1:14,11,1,1 -chr1 1000335 . C T . . AS_SB_TABLE=7,7|8,6;DP=29;ECNT=1;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=31;POPAF=7.30;TLOD=45.17 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:14,14:0.500:28:2,1:7,8:9,9:7,7,8,6 -chr1 1000453 . C G . . AS_SB_TABLE=1,1|19,14;DP=37;ECNT=1;MBQ=22,32;MFRL=0,0;MMQ=60,60;MPOS=72;POPAF=7.30;TLOD=117.94 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,33:0.918:35:0,2:1,19:1,21:1,1,19,14 -chr1 1000731 . C T . . AS_SB_TABLE=10,14|13,14;DP=51;ECNT=3;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=86;POPAF=7.30;TLOD=86.76 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:24,27:0.500:51:4,1:10,12:14,14:10,14,13,14 -chr1 1000814 . A G . . AS_SB_TABLE=0,0|14,20;DP=34;ECNT=3;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=11;POPAF=7.30;TLOD=127.94 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,34:0.957:34:0,1:0,14:0,21:0,0,14,20 -chr1 1000830 . C A . . AS_SB_TABLE=0,0|7,9;DP=18;ECNT=3;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=25;POPAF=7.30;TLOD=57.77 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,16:0.919:16:0,0:0,7:0,10:0,0,7,9 -chr1 1001107 . C G . . AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=61;POPAF=7.30;TLOD=7.35 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1002308 . T C . . AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=20;POPAF=7.30;TLOD=7.65 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1009083 . A G . . AS_SB_TABLE=1,1|1,1;DP=4;ECNT=1;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=30;POPAF=7.30;TLOD=6.65 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.500:4:0,0:1,1:1,1:1,1,1,1 -chr1 1012158 . C T . . AS_SB_TABLE=0,0|2,3;DP=5;ECNT=1;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=53;POPAF=7.30;TLOD=17.15 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.800:5:0,1:0,2:0,3:0,0,2,3 -chr1 1012809 . TT CC . . AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=99;POPAF=7.30;TLOD=8.70 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1013041 . A AAAC . . AS_SB_TABLE=0,0|0,0;DP=1;ECNT=1;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=131;POPAF=7.30;RPA=3,4;RU=AAC;STR;TLOD=4.19 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 1013312 . G A . . AS_SB_TABLE=0,0|2,1;DP=4;ECNT=1;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=59;POPAF=7.30;TLOD=10.65 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.750:3:0,0:0,2:0,2:0,0,2,1 -chr1 1013466 . T TA . . AS_SB_TABLE=0,0|3,1;DP=4;ECNT=3;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=80;POPAF=7.30;RPA=1,2;RU=A;STR;TLOD=17.40 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,4:0.800:4:0,0:0,3:0,3:0|1:1013466_T_TA:1013466:0,0,3,1 -chr1 1013490 . C G . . AS_SB_TABLE=0,0|3,1;DP=4;ECNT=3;MBQ=0,30;MFRL=0,0;MMQ=60,60;MPOS=77;POPAF=7.30;TLOD=17.40 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,4:0.800:4:0,0:0,3:0,3:0|1:1013466_T_TA:1013466:0,0,3,1 -chr1 1013541 . T C . . AS_SB_TABLE=0,0|46,3;DP=52;ECNT=3;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=28;POPAF=7.30;TLOD=179.34 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,49:0.980:49:0,0:0,46:0,47:0,0,46,3 -chr1 1013855 . G A . . AS_SB_TABLE=0,0|4,6;DP=12;ECNT=1;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=77;POPAF=7.30;TLOD=35.60 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,10:0.880:10:0,1:0,4:0,6:0,0,4,6 -chr1 1014228 . G A . . AS_SB_TABLE=122,149|32,42;DP=366;ECNT=2;MBQ=34,32;MFRL=0,0;MMQ=60,60;MPOS=72;POPAF=7.30;TLOD=216.65 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:271,74:0.243:345:30,16:122,32:161,51:122,149,32,42 -chr1 1014274 . A G . . AS_SB_TABLE=0,0|145,150;DP=303;ECNT=2;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=94;POPAF=7.30;TLOD=1139.03 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,295:0.995:295:0,11:0,143:0,180:0,0,145,150 -chr1 1014545 . C T . . AS_SB_TABLE=0,0|3,1;DP=4;ECNT=1;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=111;POPAF=7.30;TLOD=13.91 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.800:4:0,0:0,3:0,3:0,0,3,1 -chr1 1014733 . GAAGT G . . AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;MBQ=31,14;MFRL=0,0;MMQ=60,60;MPOS=79;POPAF=7.30;TLOD=3.72 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,1:0.500:2:0,0:0,0:1,1:0,1,0,1 -chr1 1019636 . A G . . AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=50;POPAF=7.30;TLOD=7.45 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1019833 . T C . . AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=115;POPAF=7.30;TLOD=7.48 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.750:2:0,1:0,0:0,2:0,0,0,2 -chr1 1020217 . G T . . AS_SB_TABLE=0,0|19,17;DP=36;ECNT=1;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=42;POPAF=7.30;TLOD=131.67 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,36:0.952:36:0,0:0,19:0,19:0,0,19,17 -chr1 1021740 . G C . . AS_SB_TABLE=0,0|2,4;DP=6;ECNT=1;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=97;POPAF=7.30;TLOD=22.18 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.857:6:0,1:0,2:0,5:0,0,2,4 -chr1 1022388 . A T . . AS_SB_TABLE=15,20|1,1;DP=37;ECNT=1;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=136;POPAF=7.30;TLOD=4.79 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:35,2:0.087:37:4,0:15,1:20,1:15,20,1,1 -chr1 1023525 . A G . . AS_SB_TABLE=0,0|0,0;DP=1;ECNT=1;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=126;POPAF=7.30;TLOD=3.58 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 1026830 . A G . . AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=37;POPAF=7.30;TLOD=7.15 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1031917 . C A . . AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=64;POPAF=7.30;TLOD=7.35 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1035987 . T C . . AS_SB_TABLE=0,0|2,1;DP=3;ECNT=1;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=8;POPAF=7.30;TLOD=10.75 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.750:3:0,0:0,2:0,2:0,0,2,1 -chr1 1036754 . C T . . AS_SB_TABLE=0,0|0,0;DP=3;ECNT=1;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=47;POPAF=7.30;TLOD=6.78 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.750:2:0,0:0,2:0,2:0,0,2,0 -chr1 1037505 . A G . . AS_SB_TABLE=2,5|1,1;DP=9;ECNT=1;MBQ=32,34;MFRL=0,0;MMQ=60,60;MPOS=64;POPAF=7.30;TLOD=6.13 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,2:0.250:9:2,0:2,1:5,1:2,5,1,1 -chr1 1037956 . A G . . AS_SB_TABLE=0,0|3,3;DP=6;ECNT=3;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=60;POPAF=7.30;TLOD=22.26 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.800:6:0,0:0,3:0,3:0,0,3,3 -chr1 1037997 . G A . . AS_SB_TABLE=0,0|4,3;DP=7;ECNT=3;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=84;POPAF=7.30;TLOD=25.44 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,7:0.833:7:0,0:0,4:0,4:0,0,4,3 -chr1 1038078 . C T . . AS_SB_TABLE=0,0|3,2;DP=5;ECNT=3;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=15;POPAF=7.30;TLOD=18.58 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.800:5:0,0:0,3:0,3:0,0,3,2 -chr1 1038288 . A G . . AS_SB_TABLE=0,0|4,1;DP=5;ECNT=1;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=52;POPAF=7.30;TLOD=17.21 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.833:5:0,0:0,4:0,4:0,0,4,1 -chr1 1038762 . T C . . AS_SB_TABLE=4,5|1,1;DP=11;ECNT=6;MBQ=33,31;MFRL=0,0;MMQ=60,60;MPOS=137;POPAF=7.30;TLOD=5.43 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:9,2:0.250:11:1,0:4,1:5,1:4,5,1,1 -chr1 1038800 . G T . . AS_SB_TABLE=0,0|4,4;DP=9;ECNT=6;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=53;POPAF=7.30;TLOD=28.38 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.841:8:0,0:0,4:0,4:0,0,4,4 -chr1 1038819 . C T . . AS_SB_TABLE=0,0|4,4;DP=8;ECNT=6;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=72;POPAF=7.30;TLOD=28.42 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.833:8:0,0:0,4:0,4:0,0,4,4 -chr1 1038845 . A G . . AS_SB_TABLE=0,0|3,3;DP=6;ECNT=6;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=87;POPAF=7.30;TLOD=22.53 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.800:6:0,0:0,3:0,3:0,0,3,3 -chr1 1038916 . A G . . AS_SB_TABLE=0,0|0,0;DP=2;ECNT=6;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=76;POPAF=7.30;TLOD=7.12 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1038975 . GT AC . . AS_SB_TABLE=0,0|0,0;DP=1;ECNT=6;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=39;POPAF=7.30;TLOD=4.20 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 1039114 . G T . . AS_SB_TABLE=0,0|2,3;DP=5;ECNT=2;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=69;POPAF=7.30;TLOD=17.78 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.800:5:0,1:0,2:0,3:0,0,2,3 -chr1 1039190 . T G . . AS_SB_TABLE=0,0|0,0;DP=2;ECNT=2;MBQ=0,29;MFRL=0,0;MMQ=60,60;MPOS=145;POPAF=7.30;TLOD=3.01 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.684:1:0,0:0,0:0,1:0,0,0,1 -chr1 1039411 . T TG,TGG . . AS_SB_TABLE=0,0|2,2|2,2;DP=8;ECNT=1;MBQ=0,30,32;MFRL=0,0,0;MMQ=60,60,60;MPOS=55,84;POPAF=7.30,7.30;RPA=8,9,10;RU=G;STR;TLOD=10.10,10.18 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1/2:0,4,4:0.429,0.429:8:0,0,0:0,2,2:0,2,2:0,0,4,4 -chr1 1039514 . C T . . AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=40;POPAF=7.30;TLOD=7.15 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1039753 . T A . . AS_SB_TABLE=0,0|1,2;DP=3;ECNT=1;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=113;POPAF=7.30;TLOD=8.40 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.750:3:0,0:0,1:0,2:0,0,1,2 -chr1 1040322 . A G . . AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=101;POPAF=7.30;TLOD=7.45 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1041586 . C T . . AS_SB_TABLE=12,13|1,1;DP=27;ECNT=1;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=99;POPAF=7.30;TLOD=5.02 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:25,2:0.111:27:2,0:12,1:15,1:12,13,1,1 -chr1 1041950 . T C . . AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=36;POPAF=7.30;TLOD=6.85 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1042190 . G A . . AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=85;POPAF=7.30;TLOD=7.25 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1042400 . C T . . AS_SB_TABLE=0,0|0,0;DP=1;ECNT=1;MBQ=0,29;MFRL=0,0;MMQ=60,60;MPOS=20;POPAF=7.30;TLOD=3.08 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 1042767 . AG A . . AS_SB_TABLE=4,2|2,1;DP=9;ECNT=1;MBQ=31,33;MFRL=0,0;MMQ=60,60;MPOS=45;POPAF=7.30;RPA=7,6;RU=G;STR;TLOD=7.33 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,3:0.375:9:0,0:4,2:4,2:4,2,2,1 -chr1 1043295 . G A . . AS_SB_TABLE=7,7|1,1;DP=16;ECNT=1;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=70;POPAF=7.30;TLOD=5.42 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:14,2:0.168:16:2,0:6,1:9,1:7,7,1,1 -chr1 1043611 . C T . . AS_SB_TABLE=11,9|1,1;DP=22;ECNT=1;MBQ=35,31;MFRL=0,0;MMQ=60,60;MPOS=35;POPAF=7.30;TLOD=4.96 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:20,2:0.143:22:0,0:11,1:11,1:11,9,1,1 -chr1 1044368 . A T . . AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;MBQ=0,23;MFRL=0,0;MMQ=60,60;MPOS=12;POPAF=7.30;TLOD=4.03 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,0:0,1:0,0,1,1 -chr1 1045080 . G A . . AS_SB_TABLE=0,0|0,0;DP=1;ECNT=1;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=43;POPAF=7.30;TLOD=3.48 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 1045707 . A G . . AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=17;POPAF=7.30;TLOD=7.35 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1046488 . C T . . AS_SB_TABLE=10,14|1,1;DP=26;ECNT=2;MBQ=32,31;MFRL=0,0;MMQ=60,60;MPOS=64;POPAF=7.30;TLOD=4.77 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:24,2:0.118:26:3,0:10,1:14,1:10,14,1,1 -chr1 1046551 . A G . . AS_SB_TABLE=0,0|3,4;DP=12;ECNT=2;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=127;POPAF=7.30;TLOD=24.93 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,7:0.876:7:0,0:0,3:0,5:0,0,3,4 -chr1 1047064 . A G . . AS_SB_TABLE=0,0|5,6;DP=11;ECNT=3;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=86;POPAF=7.30;TLOD=40.34 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,11:0.888:11:0,1:0,5:0,7:0,0,5,6 -chr1 1047082 . T C . . AS_SB_TABLE=0,0|2,4;DP=10;ECNT=3;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=104;POPAF=7.30;TLOD=18.91 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.867:6:0,1:0,2:0,5:0,0,2,4 -chr1 1047133 . T C . . AS_SB_TABLE=0,0|2,2;DP=4;ECNT=3;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=52;POPAF=7.30;TLOD=14.61 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.800:4:0,1:0,2:0,3:0,0,2,2 -chr1 1047233 . T C . . AS_SB_TABLE=3,3|1,1;DP=8;ECNT=1;MBQ=32,34;MFRL=0,0;MMQ=60,60;MPOS=57;POPAF=7.30;TLOD=6.18 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,2:0.286:8:0,0:3,1:4,1:3,3,1,1 -chr1 1047614 . T C . . AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=25;POPAF=7.30;TLOD=7.45 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1048096 . T C . . AS_SB_TABLE=22,16|1,1;DP=43;ECNT=1;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=47;POPAF=7.30;TLOD=4.70 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:38,2:0.079:40:0,0:22,1:22,1:22,16,1,1 -chr1 1048912 . C T . . AS_SB_TABLE=7,7|1,1;DP=16;ECNT=1;MBQ=35,33;MFRL=0,0;MMQ=60,60;MPOS=53;POPAF=7.30;TLOD=5.41 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:14,2:0.167:16:2,0:7,1:9,1:7,7,1,1 -chr1 1052857 . ATG A . . AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=71;POPAF=7.30;RPA=4,3;RU=TG;STR;TLOD=7.99 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1054866 . C G . . AS_SB_TABLE=6,4|1,1;DP=12;ECNT=1;MBQ=35,33;MFRL=0,0;MMQ=60,60;MPOS=55;POPAF=7.30;TLOD=5.81 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:10,2:0.222:12:0,0:6,1:6,1:6,4,1,1 -chr1 1055000 . C T . . AS_SB_TABLE=0,0|15,16;DP=33;ECNT=3;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=60;POPAF=7.30;TLOD=113.32 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,31:0.948:31:0,1:0,15:0,17:0,0,15,16 -chr1 1055037 . T C . . AS_SB_TABLE=0,0|13,13;DP=30;ECNT=3;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=88;POPAF=7.30;TLOD=92.44 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,26:0.944:26:0,1:0,12:0,15:0,0,13,13 -chr1 1055137 . C T . . AS_SB_TABLE=0,0|19,14;DP=34;ECNT=3;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=54;POPAF=7.30;TLOD=114.95 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,33:0.955:33:0,0:0,18:0,20:0,0,19,14 -chr1 1055393 . C T . . AS_SB_TABLE=0,0|13,17;DP=31;ECNT=2;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=79;POPAF=7.30;TLOD=102.54 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,30:0.951:30:0,5:0,10:0,18:0,0,13,17 -chr1 1055426 . G A . . AS_SB_TABLE=0,0|12,12;DP=28;ECNT=2;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=103;POPAF=7.30;TLOD=85.82 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,24:0.943:24:0,2:0,12:0,14:0,0,12,12 -chr1 1055604 . G A . . AS_SB_TABLE=0,0|29,32;DP=65;ECNT=1;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=73;POPAF=7.30;TLOD=216.66 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,61:0.974:61:0,3:0,29:0,36:0,0,29,32 -chr1 1055959 . C T . . AS_SB_TABLE=17,27|1,1;DP=47;ECNT=1;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=32;POPAF=7.30;TLOD=4.51 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:44,2:0.065:46:10,0:17,1:28,1:17,27,1,1 -chr1 1063121 . G C . . AS_SB_TABLE=1,1|3,0;DP=5;ECNT=1;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=33;POPAF=7.30;TLOD=9.83 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,3:0.667:5:0,0:1,3:1,3:1,1,3,0 -chr1 1065797 . G C . . AS_SB_TABLE=53,37|4,2;DP=97;ECNT=1;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=69;POPAF=7.30;TLOD=15.30 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:90,6:0.085:96:0,0:51,4:53,4:53,37,4,2 -chr1 1065963 . C T . . AS_SB_TABLE=15,18|1,1;DP=37;ECNT=1;MBQ=32,32;MFRL=0,0;MMQ=60,60;MPOS=6;POPAF=7.30;TLOD=4.60 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:33,2:0.079:35:6,0:15,1:22,1:15,18,1,1 -chr1 1066087 . C T . . AS_SB_TABLE=19,15|1,1;DP=36;ECNT=4;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=102;POPAF=7.30;TLOD=4.74 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:34,2:0.083:36:1,0:19,1:21,1:19,15,1,1 -chr1 1066088 . A C . . AS_SB_TABLE=19,15|1,1;DP=36;ECNT=4;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=96;POPAF=7.30;TLOD=4.41 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:34,2:0.083:36:1,0:19,1:21,1:19,15,1,1 -chr1 1066174 . C T . . AS_SB_TABLE=16,18|1,1;DP=37;ECNT=4;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=25;POPAF=7.30;TLOD=4.89 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:34,2:0.087:36:0,0:16,1:20,1:16,18,1,1 -chr1 1066230 . T C . . AS_SB_TABLE=16,20|1,1;DP=38;ECNT=4;MBQ=33,30;MFRL=0,0;MMQ=60,56;MPOS=62;POPAF=7.30;TLOD=4.25 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:36,2:0.083:38:0,0:16,1:21,1:16,20,1,1 -chr1 1066505 . TG T . . AS_SB_TABLE=6,5|1,1;DP=13;ECNT=1;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=58;POPAF=7.30;RPA=5,4;RU=G;STR;TLOD=4.58 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:11,2:0.182:13:0,0:5,1:8,1:6,5,1,1 -chr1 1066726 . G A . . AS_SB_TABLE=5,6|1,1;DP=13;ECNT=1;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=76;POPAF=7.30;TLOD=5.71 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:11,2:0.222:13:1,0:5,1:6,1:5,6,1,1 -chr1 1067007 . A G . . AS_SB_TABLE=15,16|2,2;DP=36;ECNT=3;MBQ=32,31;MFRL=0,0;MMQ=60,60;MPOS=14;POPAF=7.30;TLOD=10.87 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:31,4:0.143:35:1,0:14,2:17,2:15,16,2,2 -chr1 1067159 . G A . . AS_SB_TABLE=11,9|2,1;DP=24;ECNT=3;MBQ=34,32;MFRL=0,0;MMQ=60,60;MPOS=79;POPAF=7.30;TLOD=7.99 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:20,3:0.200:23:0,0:11,2:11,2:11,9,2,1 -chr1 1067173 . T C . . AS_SB_TABLE=10,10|1,1;DP=23;ECNT=3;MBQ=32,34;MFRL=0,0;MMQ=60,60;MPOS=37;POPAF=7.30;TLOD=5.39 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:20,2:0.133:22:0,0:9,1:12,1:10,10,1,1 -chr1 1068165 . G T . . AS_SB_TABLE=4,3|1,1;DP=9;ECNT=3;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=94;POPAF=7.30;TLOD=5.83 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,2:0.250:9:1,0:4,1:5,1:4,3,1,1 -chr1 1068198 . T C . . AS_SB_TABLE=7,8|1,1;DP=18;ECNT=3;MBQ=33,31;MFRL=0,0;MMQ=60,60;MPOS=98;POPAF=7.30;TLOD=5.18 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:15,2:0.179:17:1,0:7,1:8,1:7,8,1,1 -chr1 1068249 . C T . . AS_SB_TABLE=7,7|2,2;DP=18;ECNT=3;MBQ=34,32;MFRL=0,0;MMQ=60,60;MPOS=55;POPAF=7.30;TLOD=12.05 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:14,4:0.273:18:0,0:7,2:7,2:7,7,2,2 -chr1 1068591 . T C . . AS_SB_TABLE=28,29|2,2;DP=63;ECNT=5;MBQ=32,35;MFRL=0,0;MMQ=60,60;MPOS=114;POPAF=7.30;TLOD=11.26 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:57,4:0.075:61:8,0:27,2:36,2:28,29,2,2 -chr1 1068604 . T C . . AS_SB_TABLE=30,33|1,1;DP=67;ECNT=5;MBQ=32,34;MFRL=0,0;MMQ=60,53;MPOS=86;POPAF=7.30;TLOD=4.47 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:63,2:0.049:65:7,0:30,1:37,1:30,33,1,1 -chr1 1068628 . T C . . AS_SB_TABLE=28,36|1,2;DP=69;ECNT=5;MBQ=33,32;MFRL=0,0;MMQ=60,59;MPOS=116;POPAF=7.30;TLOD=6.45 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:64,3:0.073:67:4,0:27,1:37,2:28,36,1,2 -chr1 1068664 . T C . . AS_SB_TABLE=26,35|3,4;DP=68;ECNT=5;MBQ=32,33;MFRL=0,0;MMQ=60,59;MPOS=50;POPAF=7.30;TLOD=20.02 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:61,7:0.122:68:4,0:25,3:35,4:26,35,3,4 -chr1 1068727 . T C . . AS_SB_TABLE=4,15|1,2;DP=25;ECNT=5;MBQ=32,34;MFRL=0,0;MMQ=60,59;MPOS=17;POPAF=7.30;TLOD=8.12 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:19,3:0.156:22:0,0:4,1:15,2:4,15,1,2 -chr1 1068905 . C T . . AS_SB_TABLE=11,11|1,1;DP=26;ECNT=2;MBQ=35,31;MFRL=0,0;MMQ=60,60;MPOS=107;POPAF=7.30;TLOD=4.95 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:22,2:0.141:24:0,0:9,1:11,1:11,11,1,1 -chr1 1068951 . C T . . AS_SB_TABLE=0,0|5,7;DP=12;ECNT=2;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=61;POPAF=7.30;TLOD=41.40 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,12:0.888:12:0,0:0,5:0,7:0,0,5,7 -chr1 1069761 . T C . . AS_SB_TABLE=2,1|1,1;DP=5;ECNT=1;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=141;POPAF=7.30;TLOD=3.82 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,2:0.400:5:0,0:2,1:2,1:2,1,1,1 -chr1 1071610 . G A . . AS_SB_TABLE=9,10|10,9;DP=39;ECNT=1;MBQ=32,32;MFRL=0,0;MMQ=60,60;MPOS=101;POPAF=7.30;TLOD=62.27 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:19,19:0.538:38:1,2:9,10:11,13:9,10,10,9 -chr1 1071750 . GC G . . AS_SB_TABLE=4,8|1,2;DP=15;ECNT=4;MBQ=35,35;MFRL=0,0;MMQ=60,60;MPOS=98;POPAF=7.30;RPA=6,5;RU=C;STR;TLOD=6.74 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:12,3:0.231:15:0,0:3,1:9,2:4,8,1,2 -chr1 1071823 . A G . . AS_SB_TABLE=2,4|2,2;DP=10;ECNT=4;MBQ=31,34;MFRL=0,0;MMQ=60,60;MPOS=16;POPAF=7.30;TLOD=13.09 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,4:0.375:10:0,0:2,2:4,2:2,4,2,2 -chr1 1071842 . G T . . AS_SB_TABLE=2,2|1,1;DP=6;ECNT=4;MBQ=31,33;MFRL=0,0;MMQ=60,60;MPOS=21;POPAF=7.30;TLOD=6.15 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,2:0.333:6:0,0:2,1:3,1:2,2,1,1 -chr1 1071872 . C CG . . AS_SB_TABLE=0,0|2,1;DP=4;ECNT=4;MBQ=0,29;MFRL=0,0;MMQ=60,60;MPOS=62;POPAF=7.30;RPA=7,8;RU=G;STR;TLOD=7.20 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.764:3:0,0:0,2:0,2:0,0,2,1 -chr1 1072067 . G T . . AS_SB_TABLE=6,7|1,1;DP=16;ECNT=1;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=15;POPAF=7.30;TLOD=5.50 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:13,2:0.182:15:1,0:6,1:8,1:6,7,1,1 -chr1 1074098 . G C . . AS_SB_TABLE=2,1|2,3;DP=11;ECNT=1;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=74;POPAF=7.30;TLOD=17.05 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,5:0.574:8:0,1:2,2:2,3:2,1,2,3 -chr1 1074738 . C A . . AS_SB_TABLE=0,0|0,0;DP=1;ECNT=1;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=21;POPAF=7.30;TLOD=3.38 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 1074879 . G A . . AS_SB_TABLE=0,0|0,0;DP=1;ECNT=2;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=34;POPAF=7.30;TLOD=4.20 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,1:0,0:0,1:0|1:1074879_G_A:1074879:0,0,0,1 -chr1 1074893 . A C . . AS_SB_TABLE=0,0|0,0;DP=1;ECNT=2;MBQ=0,13;MFRL=0,0;MMQ=60,60;MPOS=48;POPAF=7.30;TLOD=4.20 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,0:0,0:0,1:0|1:1074879_G_A:1074879:0,0,0,1 -chr1 1080336 . G A . . AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=122;POPAF=7.30;TLOD=3.48 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 1080437 . G A . . AS_SB_TABLE=0,0|0,0;DP=3;ECNT=1;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=35;POPAF=7.30;TLOD=7.08 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.684:2:0,0:0,1:0,1:0,0,1,1 -chr1 1081649 . C G . . AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=108;POPAF=7.30;TLOD=7.02 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1081961 . G T . . AS_SB_TABLE=6,6|7,3;DP=22;ECNT=1;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=86;POPAF=7.30;TLOD=28.93 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:12,10:0.500:22:1,0:6,7:7,7:6,6,7,3 -chr1 1082207 . C T . . AS_SB_TABLE=6,10|4,4;DP=26;ECNT=1;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=32;POPAF=7.30;TLOD=25.52 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:16,8:0.352:24:4,1:6,4:10,5:6,10,4,4 -chr1 1082609 . T C . . AS_SB_TABLE=17,16|1,1;DP=35;ECNT=1;MBQ=32,34;MFRL=0,0;MMQ=60,60;MPOS=68;POPAF=7.30;TLOD=4.99 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:33,2:0.087:35:3,0:17,1:20,1:17,16,1,1 -chr1 1083362 . T G . . AS_SB_TABLE=0,0|0,0;DP=1;ECNT=1;MBQ=0,29;MFRL=0,0;MMQ=60,60;MPOS=140;POPAF=7.30;TLOD=3.08 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 1085543 . A AG . . AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=40;POPAF=7.30;TLOD=3.26 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,1:0.500:2:1,0:0,0:1,1:0,1,0,1 -chr1 1085966 . A G . . AS_SB_TABLE=2,2|2,2;DP=8;ECNT=1;MBQ=34,34;MFRL=0,0;MMQ=60,60;MPOS=46;POPAF=7.30;TLOD=13.83 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,4:0.500:8:0,0:2,2:2,2:2,2,2,2 -chr1 1090943 . T C . . AS_SB_TABLE=1,2|1,1;DP=6;ECNT=1;MBQ=25,34;MFRL=0,0;MMQ=60,60;MPOS=75;POPAF=7.30;TLOD=6.67 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,2:0.400:5:0,0:1,1:2,1:1,2,1,1 -chr1 1091421 . T A . . AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=104;POPAF=7.30;TLOD=7.15 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1094198 . C T . . AS_SB_TABLE=0,0|3,2;DP=5;ECNT=1;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=100;POPAF=7.30;TLOD=17.48 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.800:5:0,0:0,3:0,3:0,0,3,2 -chr1 1095185 . C T . . AS_SB_TABLE=4,3|1,1;DP=9;ECNT=2;MBQ=31,32;MFRL=0,0;MMQ=60,60;MPOS=9;POPAF=7.30;TLOD=5.78 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,2:0.286:9:0,0:4,1:4,1:4,3,1,1 -chr1 1095242 . C CA . . AS_SB_TABLE=1,1|0,2;DP=5;ECNT=2;MBQ=31,33;MFRL=0,0;MMQ=60,60;MPOS=59;POPAF=7.30;RPA=6,7;RU=A;STR;TLOD=5.14 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.600:4:0,0:1,1:1,2:1,1,0,2 -chr1 1096160 . A G . . AS_SB_TABLE=0,0|4,2;DP=6;ECNT=1;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=60;POPAF=7.30;TLOD=22.56 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.833:6:0,0:0,4:0,4:0,0,4,2 -chr1 1096593 . C T . . AS_SB_TABLE=1,1|1,1;DP=4;ECNT=1;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=65;POPAF=7.30;TLOD=6.78 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.500:4:0,0:1,1:1,1:1,1,1,1 -chr1 1096804 . A G . . AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=96;POPAF=7.30;TLOD=7.15 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1096900 . T C . . AS_SB_TABLE=0,0|0,0;DP=1;ECNT=1;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=15;POPAF=7.30;TLOD=3.58 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 1097893 . C CT . . AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=78;POPAF=7.30;RPA=6,7;RU=T;STR;TLOD=5.92 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1098619 . C T . . AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=37;POPAF=7.30;TLOD=6.95 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1104818 . GAA G . . AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;MBQ=0,30;MFRL=0,0;MMQ=60,60;MPOS=113;POPAF=7.30;RPA=11,9;RU=A;STR;TLOD=3.56 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1110470 . AA CG . . AS_SB_TABLE=1,2|1,0;DP=4;ECNT=3;MBQ=34,12;MFRL=0,0;MMQ=60,60;MPOS=138;POPAF=7.30;TLOD=3.42 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:3,1:0.400:4:1,0:1,0:2,1:0|1:1110470_AA_CG:1110470:1,2,1,0 -chr1 1110480 . A T . . AS_SB_TABLE=1,2|1,0;DP=4;ECNT=3;MBQ=34,14;MFRL=0,0;MMQ=60,60;MPOS=128;POPAF=7.30;TLOD=3.42 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:3,1:0.400:4:1,0:1,0:2,1:0|1:1110470_AA_CG:1110470:1,2,1,0 -chr1 1110490 . T A . . AS_SB_TABLE=1,2|1,0;DP=5;ECNT=3;MBQ=33,24;MFRL=0,0;MMQ=60,60;MPOS=118;POPAF=7.30;TLOD=3.38 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:3,1:0.396:4:1,0:1,1:2,1:0|1:1110470_AA_CG:1110470:1,2,1,0 -chr1 1110673 . T C . . AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;MBQ=0,19;MFRL=0,0;MMQ=60,60;MPOS=8;POPAF=7.30;TLOD=3.53 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1112230 . C T . . AS_SB_TABLE=1,1|1,1;DP=4;ECNT=1;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=16;POPAF=7.30;TLOD=6.78 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.500:4:0,0:1,1:1,1:1,1,1,1 -chr1 1112351 . A G . . AS_SB_TABLE=0,0|1,2;DP=3;ECNT=2;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=39;POPAF=7.30;TLOD=10.75 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.750:3:0,0:0,1:0,2:0,0,1,2 -chr1 1112385 . G A . . AS_SB_TABLE=0,0|0,0;DP=2;ECNT=2;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=7;POPAF=7.30;TLOD=7.15 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1112865 . T C . . AS_SB_TABLE=3,2|1,1;DP=8;ECNT=4;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=115;POPAF=7.30;TLOD=6.02 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:5,2:0.334:7:0,0:3,1:3,1:3,2,1,1 -chr1 1112892 . T C . . AS_SB_TABLE=5,5|1,1;DP=12;ECNT=4;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=88;POPAF=7.30;TLOD=6.43 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:10,2:0.250:12:0,0:5,1:5,1:0|1:1112892_T_C:1112892:5,5,1,1 -chr1 1112897 . T C . . AS_SB_TABLE=5,5|1,1;DP=12;ECNT=4;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=83;POPAF=7.30;TLOD=6.43 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:10,2:0.250:12:0,0:5,1:5,1:0|1:1112892_T_C:1112892:5,5,1,1 -chr1 1112951 . TT CC . . AS_SB_TABLE=3,3|3,3;DP=12;ECNT=4;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=50;POPAF=7.30;TLOD=23.90 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,6:0.500:12:0,0:3,3:3,3:3,3,3,3 -chr1 1113318 . T C . . AS_SB_TABLE=6,4|4,4;DP=19;ECNT=2;MBQ=32,34;MFRL=0,0;MMQ=60,60;MPOS=84;POPAF=7.30;TLOD=27.87 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:10,8:0.500:18:0,0:5,4:5,5:0|1:1113318_T_C:1113318:6,4,4,4 -chr1 1113322 . T C . . AS_SB_TABLE=9,8|1,1;DP=19;ECNT=2;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=47;POPAF=7.30;TLOD=5.41 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:17,2:0.167:19:0,0:9,1:9,1:0|1:1113318_T_C:1113318:9,8,1,1 -chr1 1113490 . T C . . AS_SB_TABLE=2,3|1,1;DP=7;ECNT=2;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=110;POPAF=7.30;TLOD=6.15 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:5,2:0.333:7:1,0:2,1:3,1:2,3,1,1 -chr1 1113525 . T C . . AS_SB_TABLE=2,4|1,1;DP=8;ECNT=2;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=137;POPAF=7.30;TLOD=5.98 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,2:0.286:8:1,0:2,1:4,1:2,4,1,1 -chr1 1114590 . T C . . AS_SB_TABLE=5,5|1,1;DP=12;ECNT=1;MBQ=32,32;MFRL=0,0;MMQ=60,60;MPOS=30;POPAF=7.30;TLOD=5.73 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:10,2:0.250:12:0,0:4,1:5,1:5,5,1,1 -chr1 1114927 . CG C . . AS_SB_TABLE=0,0|0,0;DP=3;ECNT=1;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=53;POPAF=7.30;RPA=3,2;RU=G;STR;TLOD=6.77 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.684:2:0,0:0,1:0,1:0,0,1,1 -chr1 1130087 . T A . . AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=67;POPAF=7.30;TLOD=6.85 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1143811 . T C . . AS_SB_TABLE=0,0|0,0;DP=1;ECNT=3;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=73;POPAF=7.30;TLOD=4.20 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,1:0,0:0,1:0|1:1143811_T_C:1143811:0,0,0,1 -chr1 1143818 . T C . . AS_SB_TABLE=0,0|0,0;DP=1;ECNT=3;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=66;POPAF=7.30;TLOD=4.20 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,1:0,0:0,1:0|1:1143811_T_C:1143811:0,0,0,1 -chr1 1143881 . G A . . AS_SB_TABLE=0,0|0,0;DP=1;ECNT=3;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=3;POPAF=7.30;TLOD=3.27 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 1153882 . A G . . AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=101;POPAF=7.30;TLOD=7.55 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1158233 . G A . . AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;MBQ=0,22;MFRL=0,0;MMQ=60,60;MPOS=104;POPAF=7.30;TLOD=4.03 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1158404 . G A . . AS_SB_TABLE=1,1|1,1;DP=4;ECNT=1;MBQ=32,31;MFRL=0,0;MMQ=60,60;MPOS=97;POPAF=7.30;TLOD=6.38 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.500:4:0,0:1,1:1,1:1,1,1,1 -chr1 1160239 . C G . . AS_SB_TABLE=0,0|2,2;DP=4;ECNT=1;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=92;POPAF=7.30;TLOD=13.85 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.750:4:0,0:0,2:0,2:0,0,2,2 -chr1 1160818 . C T . . AS_SB_TABLE=1,1|1,1;DP=4;ECNT=1;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=29;POPAF=7.30;TLOD=6.68 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.500:4:0,0:1,1:1,1:1,1,1,1 -chr1 1161528 . T C . . AS_SB_TABLE=0,0|0,0;DP=1;ECNT=1;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=41;POPAF=7.30;TLOD=3.58 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 1161720 . C T . . AS_SB_TABLE=0,0|2,1;DP=3;ECNT=1;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=108;POPAF=7.30;TLOD=8.04 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.744:3:0,0:0,1:0,2:0,0,2,1 -chr1 1161907 . T C . . AS_SB_TABLE=0,0|1,2;DP=3;ECNT=2;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=40;POPAF=7.30;TLOD=10.65 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.750:3:0,1:0,1:0,2:0,0,1,2 -chr1 1161955 . T G . . AS_SB_TABLE=0,0|0,0;DP=1;ECNT=2;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=3;POPAF=7.30;TLOD=3.28 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 1162557 . A G . . AS_SB_TABLE=0,0|0,0;DP=1;ECNT=1;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=53;POPAF=7.30;TLOD=3.48 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 1162886 . C T . . AS_SB_TABLE=1,1|5,4;DP=11;ECNT=3;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=59;POPAF=7.30;TLOD=31.57 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,9:0.750:11:0,0:1,5:1,5:1,1,5,4 -chr1 1162960 . C T . . AS_SB_TABLE=11,9|1,1;DP=22;ECNT=3;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=90;POPAF=7.30;TLOD=5.23 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:20,2:0.125:22:0,0:11,1:13,1:11,9,1,1 -chr1 1163041 . C T . . AS_SB_TABLE=0,0|21,20;DP=44;ECNT=3;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=48;POPAF=7.30;TLOD=146.18 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,41:0.961:41:0,0:0,21:0,23:0,0,21,20 -chr1 1163178 . C T . . AS_SB_TABLE=4,4|1,1;DP=11;ECNT=1;MBQ=34,32;MFRL=0,0;MMQ=60,60;MPOS=125;POPAF=7.30;TLOD=5.70 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:8,2:0.246:10:0,0:4,1:5,1:4,4,1,1 -chr1 1163440 . TCC T,TC . . AS_SB_TABLE=0,0|2,2|2,1;DP=8;ECNT=1;MBQ=0,34,33;MFRL=0,0,0;MMQ=60,60,60;MPOS=40,12;POPAF=7.30,7.30;RPA=9,7,8;RU=C;STR;TLOD=10.68,7.41 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1/2:0,4,3:0.375,0.500:7:0,0,0:0,2,3:0,2,3:0,0,4,3 -chr1 1163531 . C T . . AS_SB_TABLE=12,5|1,1;DP=19;ECNT=1;MBQ=35,33;MFRL=0,0;MMQ=60,60;MPOS=47;POPAF=7.30;TLOD=5.20 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:17,2:0.134:19:0,0:11,1:12,1:12,5,1,1 -chr1 1163718 . A G . . AS_SB_TABLE=8,12|1,1;DP=22;ECNT=1;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=131;POPAF=7.30;TLOD=5.38 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:20,2:0.118:22:4,0:8,1:14,1:8,12,1,1 -chr1 1163962 . A C . . AS_SB_TABLE=0,0|7,9;DP=21;ECNT=1;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=64;POPAF=7.30;TLOD=55.50 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,16:0.925:16:0,3:0,7:0,10:0,0,7,9 -chr1 1164679 . G C . . AS_SB_TABLE=9,9|1,1;DP=20;ECNT=1;MBQ=34,34;MFRL=0,0;MMQ=60,60;MPOS=40;POPAF=7.30;TLOD=5.63 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:18,2:0.154:20:1,0:9,1:10,1:9,9,1,1 -chr1 1164837 . C T . . AS_SB_TABLE=0,0|10,10;DP=22;ECNT=2;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=81;POPAF=7.30;TLOD=70.36 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,20:0.930:20:0,1:0,10:0,12:0,0,10,10 -chr1 1164939 . C A . . AS_SB_TABLE=1,0|4,4;DP=10;ECNT=2;MBQ=29,33;MFRL=0,0;MMQ=60,60;MPOS=71;POPAF=7.30;TLOD=25.29 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,8:0.875:9:0,0:0,5:0,6:1,0,4,4 -chr1 1165623 . C T . . AS_SB_TABLE=0,0|11,10;DP=21;ECNT=2;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=66;POPAF=7.30;TLOD=77.06 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,21:0.933:21:0,1:0,11:0,13:0,0,11,10 -chr1 1165685 . T C . . AS_SB_TABLE=8,12|1,1;DP=23;ECNT=2;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=71;POPAF=7.30;TLOD=5.07 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:20,2:0.118:22:2,0:8,1:14,1:8,12,1,1 -chr1 1165943 . G A . . AS_SB_TABLE=5,5|3,4;DP=17;ECNT=1;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=88;POPAF=7.30;TLOD=23.39 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:10,7:0.500:17:0,2:5,3:5,5:5,5,3,4 -chr1 1166689 . A G . . AS_SB_TABLE=0,0|6,5;DP=11;ECNT=1;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=89;POPAF=7.30;TLOD=40.00 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,11:0.875:11:0,0:0,6:0,6:0,0,6,5 -chr1 1167682 . C T . . AS_SB_TABLE=4,4|1,1;DP=10;ECNT=2;MBQ=33,31;MFRL=0,0;MMQ=60,60;MPOS=58;POPAF=7.30;TLOD=5.68 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:8,2:0.286:10:0,0:4,1:4,1:4,4,1,1 -chr1 1167762 . C G . . AS_SB_TABLE=4,4|1,1;DP=10;ECNT=2;MBQ=35,35;MFRL=0,0;MMQ=60,60;MPOS=13;POPAF=7.30;TLOD=6.48 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:8,2:0.286:10:0,0:4,1:4,1:4,4,1,1 -chr1 1168162 . T C . . AS_SB_TABLE=0,0|0,0;DP=3;ECNT=1;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=22;POPAF=7.30;TLOD=7.18 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.684:2:0,0:0,1:0,1:0,0,1,1 -chr1 1168310 . T TCA . . AS_SB_TABLE=1,0|5,3;DP=10;ECNT=1;MBQ=15,33;MFRL=0,0;MMQ=60,60;MPOS=61;POPAF=7.30;TLOD=34.10 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,8:0.880:9:0,0:0,4:0,6:1,0,5,3 -chr1 1168578 . T G . . AS_SB_TABLE=0,0|8,5;DP=13;ECNT=2;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=98;POPAF=7.30;TLOD=47.14 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,13:0.900:13:0,0:0,8:0,8:0,0,8,5 -chr1 1168643 . C T . . AS_SB_TABLE=2,5|1,1;DP=11;ECNT=2;MBQ=35,33;MFRL=0,0;MMQ=60,60;MPOS=100;POPAF=7.30;TLOD=5.80 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,2:0.246:9:0,0:2,1:5,1:2,5,1,1 -chr1 1169204 . T C . . AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=36;POPAF=7.30;TLOD=7.35 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1169591 . C A . . AS_SB_TABLE=0,1|3,2;DP=6;ECNT=1;MBQ=29,31;MFRL=0,0;MMQ=60,60;MPOS=109;POPAF=7.30;TLOD=16.48 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,5:0.667:6:0,0:0,3:1,3:0,1,3,2 -chr1 1169858 . T C . . AS_SB_TABLE=0,0|1,2;DP=3;ECNT=1;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=123;POPAF=7.30;TLOD=10.75 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.750:3:0,1:0,1:0,2:0,0,1,2 -chr1 1205607 . C A . . AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=95;POPAF=7.30;TLOD=3.28 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 1217674 . G A . . AS_SB_TABLE=10,19|1,1;DP=31;ECNT=1;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=28;POPAF=7.30;TLOD=4.74 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:29,2:0.074:31:7,0:10,1:24,1:10,19,1,1 -chr1 1218523 . T C . . AS_SB_TABLE=28,29|1,1;DP=61;ECNT=1;MBQ=32,34;MFRL=0,0;MMQ=60,60;MPOS=79;POPAF=7.30;TLOD=4.60 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:57,2:0.057:59:4,0:28,1:32,1:28,29,1,1 -chr1 1221034 . C T . . AS_SB_TABLE=2,4|1,1;DP=8;ECNT=1;MBQ=34,34;MFRL=0,0;MMQ=60,60;MPOS=75;POPAF=7.30;TLOD=6.18 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,2:0.286:8:1,0:2,1:4,1:2,4,1,1 -chr1 1221498 . T C . . AS_SB_TABLE=0,2|2,2;DP=6;ECNT=1;MBQ=32,35;MFRL=0,0;MMQ=60,60;MPOS=91;POPAF=7.30;TLOD=13.93 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,4:0.500:6:1,0:0,2:2,2:0,2,2,2 -chr1 1223251 . A G . . AS_SB_TABLE=1,1|6,8;DP=26;ECNT=1;MBQ=31,33;MFRL=0,0;MMQ=60,60;MPOS=70;POPAF=7.30;TLOD=48.36 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,14:0.842:16:0,3:1,6:1,9:1,1,6,8 -chr1 1223932 . C T . . AS_SB_TABLE=14,9|1,1;DP=25;ECNT=1;MBQ=33,31;MFRL=0,0;MMQ=60,60;MPOS=48;POPAF=7.30;TLOD=4.67 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:23,2:0.105:25:2,0:14,1:16,1:14,9,1,1 -chr1 1224137 . T C . . AS_SB_TABLE=0,0|2,1;DP=3;ECNT=1;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=0;POPAF=7.30;TLOD=10.50 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.750:3:0,0:0,2:0,2:0,0,2,1 -chr1 1226946 . A G . . AS_SB_TABLE=0,0|2,2;DP=4;ECNT=1;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=46;POPAF=7.30;TLOD=14.43 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.750:4:0,0:0,2:0,2:0,0,2,2 -chr1 1232278 . C T . . AS_SB_TABLE=6,6|1,1;DP=14;ECNT=1;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=6;POPAF=7.30;TLOD=5.51 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:12,2:0.222:14:0,0:6,1:6,1:6,6,1,1 -chr1 1232533 . G A . . AS_SB_TABLE=24,22|1,1;DP=50;ECNT=1;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=16;POPAF=7.30;TLOD=4.73 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:46,2:0.074:48:0,0:23,1:24,1:24,22,1,1 -chr1 1233710 . GT G . . AS_SB_TABLE=99,106|2,2;DP=211;ECNT=1;MBQ=34,34;MFRL=0,0;MMQ=60,60;MPOS=19;POPAF=7.30;RPA=3,2;RU=T;STR;TLOD=8.30 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:205,4:0.024:209:9,0:100,2:122,2:99,106,2,2 diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr1.vcf.idx b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr1.vcf.idx deleted file mode 100644 index cb9219f..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr1.vcf.idx and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr1.vcf.stats b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr1.vcf.stats deleted file mode 100644 index 85cddae..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr1.vcf.stats +++ /dev/null @@ -1,2 +0,0 @@ -statistic value -callable 50895.0 diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr10.vcf b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr10.vcf deleted file mode 100644 index c0be61b..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr10.vcf +++ /dev/null @@ -1,69 +0,0 @@ -##fileformat=VCFv4.2 -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##GATKCommandLine= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##MutectVersion=2.2 -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##filtering_status=Warning: unfiltered Mutect 2 calls. Please run FilterMutectCalls to remove false positives. -##source=Mutect2 -##tumor_sample=unknown -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT unknown diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr10.vcf.idx b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr10.vcf.idx deleted file mode 100644 index 9e26463..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr10.vcf.idx and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr10.vcf.stats b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr10.vcf.stats deleted file mode 100644 index 4f62813..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr10.vcf.stats +++ /dev/null @@ -1,2 +0,0 @@ -statistic value -callable 0.0 diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr10_flt.vcf b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr10_flt.vcf deleted file mode 100644 index c893577..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr10_flt.vcf +++ /dev/null @@ -1,94 +0,0 @@ -##fileformat=VCFv4.2 -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##GATKCommandLine= -##GATKCommandLine= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##MutectVersion=2.2 -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##filtering_status=These calls have been filtered by FilterMutectCalls to label false positives with a list of failed filters and true positives with PASS. -##source=FilterMutectCalls -##source=Mutect2 -##tumor_sample=unknown -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT unknown diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr10_flt.vcf.filteringStats.tsv b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr10_flt.vcf.filteringStats.tsv deleted file mode 100644 index 89fafef..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr10_flt.vcf.filteringStats.tsv +++ /dev/null @@ -1,27 +0,0 @@ -#Ln prior of deletion of length 10=-16.11809565095832 -#Ln prior of deletion of length 9=-16.11809565095832 -#Ln prior of deletion of length 8=-16.11809565095832 -#Ln prior of deletion of length 7=-16.11809565095832 -#Ln prior of deletion of length 6=-16.11809565095832 -#Ln prior of deletion of length 5=-16.11809565095832 -#Ln prior of deletion of length 4=-16.11809565095832 -#Ln prior of deletion of length 3=-16.11809565095832 -#Ln prior of deletion of length 2=-16.11809565095832 -#Ln prior of deletion of length 1=-16.11809565095832 -#Ln prior of SNV=-13.815510557964275 -#Ln prior of insertion of length 1=-16.11809565095832 -#Ln prior of insertion of length 2=-16.11809565095832 -#Ln prior of insertion of length 3=-16.11809565095832 -#Ln prior of insertion of length 4=-16.11809565095832 -#Ln prior of insertion of length 5=-16.11809565095832 -#Ln prior of insertion of length 6=-16.11809565095832 -#Ln prior of insertion of length 7=-16.11809565095832 -#Ln prior of insertion of length 8=-16.11809565095832 -#Ln prior of insertion of length 9=-16.11809565095832 -#Ln prior of insertion of length 10=-16.11809565095832 -#Background beta-binomial cluster=weight = 0.5000, alpha = 1.00, beta = 1.00 -#High-AF beta-binomial cluster=weight = 0.5000, alpha = 10.00, beta = 1.00 -#threshold=0.0 -#fdr=0.0 -#sensitivity=0.0 -filter FP FDR FN FNR diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr10_flt.vcf.gz b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr10_flt.vcf.gz deleted file mode 100644 index 112e91b..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr10_flt.vcf.gz and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr10_flt.vcf.gz.tbi b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr10_flt.vcf.gz.tbi deleted file mode 100644 index b9e0990..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr10_flt.vcf.gz.tbi and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr10_flt.vcf.idx b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr10_flt.vcf.idx deleted file mode 100644 index 602b31d..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr10_flt.vcf.idx and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr11.vcf b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr11.vcf deleted file mode 100644 index df9f2ee..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr11.vcf +++ /dev/null @@ -1,69 +0,0 @@ -##fileformat=VCFv4.2 -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##GATKCommandLine= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##MutectVersion=2.2 -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##filtering_status=Warning: unfiltered Mutect 2 calls. Please run FilterMutectCalls to remove false positives. -##source=Mutect2 -##tumor_sample=unknown -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT unknown diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr11.vcf.idx b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr11.vcf.idx deleted file mode 100644 index 6ab69dd..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr11.vcf.idx and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr11.vcf.stats b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr11.vcf.stats deleted file mode 100644 index 4f62813..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr11.vcf.stats +++ /dev/null @@ -1,2 +0,0 @@ -statistic value -callable 0.0 diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr11_flt.vcf b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr11_flt.vcf deleted file mode 100644 index 8a30717..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr11_flt.vcf +++ /dev/null @@ -1,94 +0,0 @@ -##fileformat=VCFv4.2 -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##GATKCommandLine= -##GATKCommandLine= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##MutectVersion=2.2 -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##filtering_status=These calls have been filtered by FilterMutectCalls to label false positives with a list of failed filters and true positives with PASS. -##source=FilterMutectCalls -##source=Mutect2 -##tumor_sample=unknown -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT unknown diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr11_flt.vcf.filteringStats.tsv b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr11_flt.vcf.filteringStats.tsv deleted file mode 100644 index 89fafef..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr11_flt.vcf.filteringStats.tsv +++ /dev/null @@ -1,27 +0,0 @@ -#Ln prior of deletion of length 10=-16.11809565095832 -#Ln prior of deletion of length 9=-16.11809565095832 -#Ln prior of deletion of length 8=-16.11809565095832 -#Ln prior of deletion of length 7=-16.11809565095832 -#Ln prior of deletion of length 6=-16.11809565095832 -#Ln prior of deletion of length 5=-16.11809565095832 -#Ln prior of deletion of length 4=-16.11809565095832 -#Ln prior of deletion of length 3=-16.11809565095832 -#Ln prior of deletion of length 2=-16.11809565095832 -#Ln prior of deletion of length 1=-16.11809565095832 -#Ln prior of SNV=-13.815510557964275 -#Ln prior of insertion of length 1=-16.11809565095832 -#Ln prior of insertion of length 2=-16.11809565095832 -#Ln prior of insertion of length 3=-16.11809565095832 -#Ln prior of insertion of length 4=-16.11809565095832 -#Ln prior of insertion of length 5=-16.11809565095832 -#Ln prior of insertion of length 6=-16.11809565095832 -#Ln prior of insertion of length 7=-16.11809565095832 -#Ln prior of insertion of length 8=-16.11809565095832 -#Ln prior of insertion of length 9=-16.11809565095832 -#Ln prior of insertion of length 10=-16.11809565095832 -#Background beta-binomial cluster=weight = 0.5000, alpha = 1.00, beta = 1.00 -#High-AF beta-binomial cluster=weight = 0.5000, alpha = 10.00, beta = 1.00 -#threshold=0.0 -#fdr=0.0 -#sensitivity=0.0 -filter FP FDR FN FNR diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr11_flt.vcf.gz b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr11_flt.vcf.gz deleted file mode 100644 index 0e60e45..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr11_flt.vcf.gz and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr11_flt.vcf.gz.tbi b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr11_flt.vcf.gz.tbi deleted file mode 100644 index b9e0990..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr11_flt.vcf.gz.tbi and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr11_flt.vcf.idx b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr11_flt.vcf.idx deleted file mode 100644 index c501287..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr11_flt.vcf.idx and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr12.vcf b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr12.vcf deleted file mode 100644 index aebf015..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr12.vcf +++ /dev/null @@ -1,69 +0,0 @@ -##fileformat=VCFv4.2 -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##GATKCommandLine= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##MutectVersion=2.2 -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##filtering_status=Warning: unfiltered Mutect 2 calls. Please run FilterMutectCalls to remove false positives. -##source=Mutect2 -##tumor_sample=unknown -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT unknown diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr12.vcf.idx b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr12.vcf.idx deleted file mode 100644 index edf4e4e..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr12.vcf.idx and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr12.vcf.stats b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr12.vcf.stats deleted file mode 100644 index 4f62813..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr12.vcf.stats +++ /dev/null @@ -1,2 +0,0 @@ -statistic value -callable 0.0 diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr12_flt.vcf b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr12_flt.vcf deleted file mode 100644 index cfb7070..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr12_flt.vcf +++ /dev/null @@ -1,94 +0,0 @@ -##fileformat=VCFv4.2 -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##GATKCommandLine= -##GATKCommandLine= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##MutectVersion=2.2 -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##filtering_status=These calls have been filtered by FilterMutectCalls to label false positives with a list of failed filters and true positives with PASS. -##source=FilterMutectCalls -##source=Mutect2 -##tumor_sample=unknown -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT unknown diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr12_flt.vcf.filteringStats.tsv b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr12_flt.vcf.filteringStats.tsv deleted file mode 100644 index 89fafef..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr12_flt.vcf.filteringStats.tsv +++ /dev/null @@ -1,27 +0,0 @@ -#Ln prior of deletion of length 10=-16.11809565095832 -#Ln prior of deletion of length 9=-16.11809565095832 -#Ln prior of deletion of length 8=-16.11809565095832 -#Ln prior of deletion of length 7=-16.11809565095832 -#Ln prior of deletion of length 6=-16.11809565095832 -#Ln prior of deletion of length 5=-16.11809565095832 -#Ln prior of deletion of length 4=-16.11809565095832 -#Ln prior of deletion of length 3=-16.11809565095832 -#Ln prior of deletion of length 2=-16.11809565095832 -#Ln prior of deletion of length 1=-16.11809565095832 -#Ln prior of SNV=-13.815510557964275 -#Ln prior of insertion of length 1=-16.11809565095832 -#Ln prior of insertion of length 2=-16.11809565095832 -#Ln prior of insertion of length 3=-16.11809565095832 -#Ln prior of insertion of length 4=-16.11809565095832 -#Ln prior of insertion of length 5=-16.11809565095832 -#Ln prior of insertion of length 6=-16.11809565095832 -#Ln prior of insertion of length 7=-16.11809565095832 -#Ln prior of insertion of length 8=-16.11809565095832 -#Ln prior of insertion of length 9=-16.11809565095832 -#Ln prior of insertion of length 10=-16.11809565095832 -#Background beta-binomial cluster=weight = 0.5000, alpha = 1.00, beta = 1.00 -#High-AF beta-binomial cluster=weight = 0.5000, alpha = 10.00, beta = 1.00 -#threshold=0.0 -#fdr=0.0 -#sensitivity=0.0 -filter FP FDR FN FNR diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr12_flt.vcf.gz b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr12_flt.vcf.gz deleted file mode 100644 index f0773ff..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr12_flt.vcf.gz and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr12_flt.vcf.gz.tbi b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr12_flt.vcf.gz.tbi deleted file mode 100644 index b9e0990..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr12_flt.vcf.gz.tbi and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr12_flt.vcf.idx b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr12_flt.vcf.idx deleted file mode 100644 index ba75eb7..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr12_flt.vcf.idx and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr13.vcf b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr13.vcf deleted file mode 100644 index 12920a1..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr13.vcf +++ /dev/null @@ -1,69 +0,0 @@ -##fileformat=VCFv4.2 -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##GATKCommandLine= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##MutectVersion=2.2 -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##filtering_status=Warning: unfiltered Mutect 2 calls. Please run FilterMutectCalls to remove false positives. -##source=Mutect2 -##tumor_sample=unknown -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT unknown diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr13.vcf.idx b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr13.vcf.idx deleted file mode 100644 index 80c827b..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr13.vcf.idx and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr13.vcf.stats b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr13.vcf.stats deleted file mode 100644 index 4f62813..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr13.vcf.stats +++ /dev/null @@ -1,2 +0,0 @@ -statistic value -callable 0.0 diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr13_flt.vcf b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr13_flt.vcf deleted file mode 100644 index 205d395..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr13_flt.vcf +++ /dev/null @@ -1,94 +0,0 @@ -##fileformat=VCFv4.2 -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##GATKCommandLine= -##GATKCommandLine= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##MutectVersion=2.2 -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##filtering_status=These calls have been filtered by FilterMutectCalls to label false positives with a list of failed filters and true positives with PASS. -##source=FilterMutectCalls -##source=Mutect2 -##tumor_sample=unknown -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT unknown diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr13_flt.vcf.filteringStats.tsv b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr13_flt.vcf.filteringStats.tsv deleted file mode 100644 index 89fafef..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr13_flt.vcf.filteringStats.tsv +++ /dev/null @@ -1,27 +0,0 @@ -#Ln prior of deletion of length 10=-16.11809565095832 -#Ln prior of deletion of length 9=-16.11809565095832 -#Ln prior of deletion of length 8=-16.11809565095832 -#Ln prior of deletion of length 7=-16.11809565095832 -#Ln prior of deletion of length 6=-16.11809565095832 -#Ln prior of deletion of length 5=-16.11809565095832 -#Ln prior of deletion of length 4=-16.11809565095832 -#Ln prior of deletion of length 3=-16.11809565095832 -#Ln prior of deletion of length 2=-16.11809565095832 -#Ln prior of deletion of length 1=-16.11809565095832 -#Ln prior of SNV=-13.815510557964275 -#Ln prior of insertion of length 1=-16.11809565095832 -#Ln prior of insertion of length 2=-16.11809565095832 -#Ln prior of insertion of length 3=-16.11809565095832 -#Ln prior of insertion of length 4=-16.11809565095832 -#Ln prior of insertion of length 5=-16.11809565095832 -#Ln prior of insertion of length 6=-16.11809565095832 -#Ln prior of insertion of length 7=-16.11809565095832 -#Ln prior of insertion of length 8=-16.11809565095832 -#Ln prior of insertion of length 9=-16.11809565095832 -#Ln prior of insertion of length 10=-16.11809565095832 -#Background beta-binomial cluster=weight = 0.5000, alpha = 1.00, beta = 1.00 -#High-AF beta-binomial cluster=weight = 0.5000, alpha = 10.00, beta = 1.00 -#threshold=0.0 -#fdr=0.0 -#sensitivity=0.0 -filter FP FDR FN FNR diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr13_flt.vcf.gz b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr13_flt.vcf.gz deleted file mode 100644 index a06a2eb..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr13_flt.vcf.gz and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr13_flt.vcf.gz.tbi b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr13_flt.vcf.gz.tbi deleted file mode 100644 index b9e0990..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr13_flt.vcf.gz.tbi and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr13_flt.vcf.idx b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr13_flt.vcf.idx deleted file mode 100644 index ab19393..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr13_flt.vcf.idx and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr14.vcf b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr14.vcf deleted file mode 100644 index 1061d92..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr14.vcf +++ /dev/null @@ -1,69 +0,0 @@ -##fileformat=VCFv4.2 -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##GATKCommandLine= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##MutectVersion=2.2 -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##filtering_status=Warning: unfiltered Mutect 2 calls. Please run FilterMutectCalls to remove false positives. -##source=Mutect2 -##tumor_sample=unknown -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT unknown diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr14.vcf.idx b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr14.vcf.idx deleted file mode 100644 index d8874a7..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr14.vcf.idx and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr14.vcf.stats b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr14.vcf.stats deleted file mode 100644 index 4f62813..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr14.vcf.stats +++ /dev/null @@ -1,2 +0,0 @@ -statistic value -callable 0.0 diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr14_flt.vcf b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr14_flt.vcf deleted file mode 100644 index d9aa062..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr14_flt.vcf +++ /dev/null @@ -1,94 +0,0 @@ -##fileformat=VCFv4.2 -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##GATKCommandLine= -##GATKCommandLine= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##MutectVersion=2.2 -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##filtering_status=These calls have been filtered by FilterMutectCalls to label false positives with a list of failed filters and true positives with PASS. -##source=FilterMutectCalls -##source=Mutect2 -##tumor_sample=unknown -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT unknown diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr14_flt.vcf.filteringStats.tsv b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr14_flt.vcf.filteringStats.tsv deleted file mode 100644 index 89fafef..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr14_flt.vcf.filteringStats.tsv +++ /dev/null @@ -1,27 +0,0 @@ -#Ln prior of deletion of length 10=-16.11809565095832 -#Ln prior of deletion of length 9=-16.11809565095832 -#Ln prior of deletion of length 8=-16.11809565095832 -#Ln prior of deletion of length 7=-16.11809565095832 -#Ln prior of deletion of length 6=-16.11809565095832 -#Ln prior of deletion of length 5=-16.11809565095832 -#Ln prior of deletion of length 4=-16.11809565095832 -#Ln prior of deletion of length 3=-16.11809565095832 -#Ln prior of deletion of length 2=-16.11809565095832 -#Ln prior of deletion of length 1=-16.11809565095832 -#Ln prior of SNV=-13.815510557964275 -#Ln prior of insertion of length 1=-16.11809565095832 -#Ln prior of insertion of length 2=-16.11809565095832 -#Ln prior of insertion of length 3=-16.11809565095832 -#Ln prior of insertion of length 4=-16.11809565095832 -#Ln prior of insertion of length 5=-16.11809565095832 -#Ln prior of insertion of length 6=-16.11809565095832 -#Ln prior of insertion of length 7=-16.11809565095832 -#Ln prior of insertion of length 8=-16.11809565095832 -#Ln prior of insertion of length 9=-16.11809565095832 -#Ln prior of insertion of length 10=-16.11809565095832 -#Background beta-binomial cluster=weight = 0.5000, alpha = 1.00, beta = 1.00 -#High-AF beta-binomial cluster=weight = 0.5000, alpha = 10.00, beta = 1.00 -#threshold=0.0 -#fdr=0.0 -#sensitivity=0.0 -filter FP FDR FN FNR diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr14_flt.vcf.gz b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr14_flt.vcf.gz deleted file mode 100644 index a86b11f..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr14_flt.vcf.gz and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr14_flt.vcf.gz.tbi b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr14_flt.vcf.gz.tbi deleted file mode 100644 index b9e0990..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr14_flt.vcf.gz.tbi and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr14_flt.vcf.idx b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr14_flt.vcf.idx deleted file mode 100644 index 270e0d1..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr14_flt.vcf.idx and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr15.vcf b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr15.vcf deleted file mode 100644 index 3e64014..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr15.vcf +++ /dev/null @@ -1,69 +0,0 @@ -##fileformat=VCFv4.2 -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##GATKCommandLine= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##MutectVersion=2.2 -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##filtering_status=Warning: unfiltered Mutect 2 calls. Please run FilterMutectCalls to remove false positives. -##source=Mutect2 -##tumor_sample=unknown -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT unknown diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr15.vcf.idx b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr15.vcf.idx deleted file mode 100644 index 8341099..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr15.vcf.idx and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr15.vcf.stats b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr15.vcf.stats deleted file mode 100644 index 4f62813..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr15.vcf.stats +++ /dev/null @@ -1,2 +0,0 @@ -statistic value -callable 0.0 diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr15_flt.vcf b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr15_flt.vcf deleted file mode 100644 index f0fbd8d..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr15_flt.vcf +++ /dev/null @@ -1,94 +0,0 @@ -##fileformat=VCFv4.2 -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##GATKCommandLine= -##GATKCommandLine= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##MutectVersion=2.2 -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##filtering_status=These calls have been filtered by FilterMutectCalls to label false positives with a list of failed filters and true positives with PASS. -##source=FilterMutectCalls -##source=Mutect2 -##tumor_sample=unknown -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT unknown diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr15_flt.vcf.filteringStats.tsv b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr15_flt.vcf.filteringStats.tsv deleted file mode 100644 index 89fafef..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr15_flt.vcf.filteringStats.tsv +++ /dev/null @@ -1,27 +0,0 @@ -#Ln prior of deletion of length 10=-16.11809565095832 -#Ln prior of deletion of length 9=-16.11809565095832 -#Ln prior of deletion of length 8=-16.11809565095832 -#Ln prior of deletion of length 7=-16.11809565095832 -#Ln prior of deletion of length 6=-16.11809565095832 -#Ln prior of deletion of length 5=-16.11809565095832 -#Ln prior of deletion of length 4=-16.11809565095832 -#Ln prior of deletion of length 3=-16.11809565095832 -#Ln prior of deletion of length 2=-16.11809565095832 -#Ln prior of deletion of length 1=-16.11809565095832 -#Ln prior of SNV=-13.815510557964275 -#Ln prior of insertion of length 1=-16.11809565095832 -#Ln prior of insertion of length 2=-16.11809565095832 -#Ln prior of insertion of length 3=-16.11809565095832 -#Ln prior of insertion of length 4=-16.11809565095832 -#Ln prior of insertion of length 5=-16.11809565095832 -#Ln prior of insertion of length 6=-16.11809565095832 -#Ln prior of insertion of length 7=-16.11809565095832 -#Ln prior of insertion of length 8=-16.11809565095832 -#Ln prior of insertion of length 9=-16.11809565095832 -#Ln prior of insertion of length 10=-16.11809565095832 -#Background beta-binomial cluster=weight = 0.5000, alpha = 1.00, beta = 1.00 -#High-AF beta-binomial cluster=weight = 0.5000, alpha = 10.00, beta = 1.00 -#threshold=0.0 -#fdr=0.0 -#sensitivity=0.0 -filter FP FDR FN FNR diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr15_flt.vcf.gz b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr15_flt.vcf.gz deleted file mode 100644 index eb06df3..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr15_flt.vcf.gz and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr15_flt.vcf.gz.tbi b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr15_flt.vcf.gz.tbi deleted file mode 100644 index b9e0990..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr15_flt.vcf.gz.tbi and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr15_flt.vcf.idx b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr15_flt.vcf.idx deleted file mode 100644 index dab47cf..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr15_flt.vcf.idx and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr16.vcf b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr16.vcf deleted file mode 100644 index 9be6ec0..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr16.vcf +++ /dev/null @@ -1,69 +0,0 @@ -##fileformat=VCFv4.2 -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##GATKCommandLine= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##MutectVersion=2.2 -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##filtering_status=Warning: unfiltered Mutect 2 calls. Please run FilterMutectCalls to remove false positives. -##source=Mutect2 -##tumor_sample=unknown -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT unknown diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr16.vcf.idx b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr16.vcf.idx deleted file mode 100644 index 5802bdc..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr16.vcf.idx and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr16.vcf.stats b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr16.vcf.stats deleted file mode 100644 index 4f62813..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr16.vcf.stats +++ /dev/null @@ -1,2 +0,0 @@ -statistic value -callable 0.0 diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr16_flt.vcf b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr16_flt.vcf deleted file mode 100644 index bf3b00e..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr16_flt.vcf +++ /dev/null @@ -1,94 +0,0 @@ -##fileformat=VCFv4.2 -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##GATKCommandLine= -##GATKCommandLine= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##MutectVersion=2.2 -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##filtering_status=These calls have been filtered by FilterMutectCalls to label false positives with a list of failed filters and true positives with PASS. -##source=FilterMutectCalls -##source=Mutect2 -##tumor_sample=unknown -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT unknown diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr16_flt.vcf.filteringStats.tsv b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr16_flt.vcf.filteringStats.tsv deleted file mode 100644 index 89fafef..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr16_flt.vcf.filteringStats.tsv +++ /dev/null @@ -1,27 +0,0 @@ -#Ln prior of deletion of length 10=-16.11809565095832 -#Ln prior of deletion of length 9=-16.11809565095832 -#Ln prior of deletion of length 8=-16.11809565095832 -#Ln prior of deletion of length 7=-16.11809565095832 -#Ln prior of deletion of length 6=-16.11809565095832 -#Ln prior of deletion of length 5=-16.11809565095832 -#Ln prior of deletion of length 4=-16.11809565095832 -#Ln prior of deletion of length 3=-16.11809565095832 -#Ln prior of deletion of length 2=-16.11809565095832 -#Ln prior of deletion of length 1=-16.11809565095832 -#Ln prior of SNV=-13.815510557964275 -#Ln prior of insertion of length 1=-16.11809565095832 -#Ln prior of insertion of length 2=-16.11809565095832 -#Ln prior of insertion of length 3=-16.11809565095832 -#Ln prior of insertion of length 4=-16.11809565095832 -#Ln prior of insertion of length 5=-16.11809565095832 -#Ln prior of insertion of length 6=-16.11809565095832 -#Ln prior of insertion of length 7=-16.11809565095832 -#Ln prior of insertion of length 8=-16.11809565095832 -#Ln prior of insertion of length 9=-16.11809565095832 -#Ln prior of insertion of length 10=-16.11809565095832 -#Background beta-binomial cluster=weight = 0.5000, alpha = 1.00, beta = 1.00 -#High-AF beta-binomial cluster=weight = 0.5000, alpha = 10.00, beta = 1.00 -#threshold=0.0 -#fdr=0.0 -#sensitivity=0.0 -filter FP FDR FN FNR diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr16_flt.vcf.gz b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr16_flt.vcf.gz deleted file mode 100644 index 4592ad7..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr16_flt.vcf.gz and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr16_flt.vcf.gz.tbi b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr16_flt.vcf.gz.tbi deleted file mode 100644 index b9e0990..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr16_flt.vcf.gz.tbi and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr16_flt.vcf.idx b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr16_flt.vcf.idx deleted file mode 100644 index 89ec301..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr16_flt.vcf.idx and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr17.vcf b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr17.vcf deleted file mode 100644 index 7d57890..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr17.vcf +++ /dev/null @@ -1,69 +0,0 @@ -##fileformat=VCFv4.2 -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##GATKCommandLine= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##MutectVersion=2.2 -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##filtering_status=Warning: unfiltered Mutect 2 calls. Please run FilterMutectCalls to remove false positives. -##source=Mutect2 -##tumor_sample=unknown -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT unknown diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr17.vcf.idx b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr17.vcf.idx deleted file mode 100644 index e717b96..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr17.vcf.idx and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr17.vcf.stats b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr17.vcf.stats deleted file mode 100644 index 4f62813..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr17.vcf.stats +++ /dev/null @@ -1,2 +0,0 @@ -statistic value -callable 0.0 diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr17_flt.vcf b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr17_flt.vcf deleted file mode 100644 index 7f8a525..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr17_flt.vcf +++ /dev/null @@ -1,94 +0,0 @@ -##fileformat=VCFv4.2 -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##GATKCommandLine= -##GATKCommandLine= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##MutectVersion=2.2 -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##filtering_status=These calls have been filtered by FilterMutectCalls to label false positives with a list of failed filters and true positives with PASS. -##source=FilterMutectCalls -##source=Mutect2 -##tumor_sample=unknown -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT unknown diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr17_flt.vcf.filteringStats.tsv b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr17_flt.vcf.filteringStats.tsv deleted file mode 100644 index 89fafef..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr17_flt.vcf.filteringStats.tsv +++ /dev/null @@ -1,27 +0,0 @@ -#Ln prior of deletion of length 10=-16.11809565095832 -#Ln prior of deletion of length 9=-16.11809565095832 -#Ln prior of deletion of length 8=-16.11809565095832 -#Ln prior of deletion of length 7=-16.11809565095832 -#Ln prior of deletion of length 6=-16.11809565095832 -#Ln prior of deletion of length 5=-16.11809565095832 -#Ln prior of deletion of length 4=-16.11809565095832 -#Ln prior of deletion of length 3=-16.11809565095832 -#Ln prior of deletion of length 2=-16.11809565095832 -#Ln prior of deletion of length 1=-16.11809565095832 -#Ln prior of SNV=-13.815510557964275 -#Ln prior of insertion of length 1=-16.11809565095832 -#Ln prior of insertion of length 2=-16.11809565095832 -#Ln prior of insertion of length 3=-16.11809565095832 -#Ln prior of insertion of length 4=-16.11809565095832 -#Ln prior of insertion of length 5=-16.11809565095832 -#Ln prior of insertion of length 6=-16.11809565095832 -#Ln prior of insertion of length 7=-16.11809565095832 -#Ln prior of insertion of length 8=-16.11809565095832 -#Ln prior of insertion of length 9=-16.11809565095832 -#Ln prior of insertion of length 10=-16.11809565095832 -#Background beta-binomial cluster=weight = 0.5000, alpha = 1.00, beta = 1.00 -#High-AF beta-binomial cluster=weight = 0.5000, alpha = 10.00, beta = 1.00 -#threshold=0.0 -#fdr=0.0 -#sensitivity=0.0 -filter FP FDR FN FNR diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr17_flt.vcf.gz b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr17_flt.vcf.gz deleted file mode 100644 index 476f17f..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr17_flt.vcf.gz and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr17_flt.vcf.gz.tbi b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr17_flt.vcf.gz.tbi deleted file mode 100644 index b9e0990..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr17_flt.vcf.gz.tbi and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr17_flt.vcf.idx b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr17_flt.vcf.idx deleted file mode 100644 index 1eb145c..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr17_flt.vcf.idx and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr18.vcf b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr18.vcf deleted file mode 100644 index 4ce8392..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr18.vcf +++ /dev/null @@ -1,69 +0,0 @@ -##fileformat=VCFv4.2 -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##GATKCommandLine= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##MutectVersion=2.2 -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##filtering_status=Warning: unfiltered Mutect 2 calls. Please run FilterMutectCalls to remove false positives. -##source=Mutect2 -##tumor_sample=unknown -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT unknown diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr18.vcf.idx b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr18.vcf.idx deleted file mode 100644 index a0b5eaf..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr18.vcf.idx and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr18.vcf.stats b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr18.vcf.stats deleted file mode 100644 index 4f62813..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr18.vcf.stats +++ /dev/null @@ -1,2 +0,0 @@ -statistic value -callable 0.0 diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr18_flt.vcf b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr18_flt.vcf deleted file mode 100644 index 52cdeaa..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr18_flt.vcf +++ /dev/null @@ -1,94 +0,0 @@ -##fileformat=VCFv4.2 -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##GATKCommandLine= -##GATKCommandLine= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##MutectVersion=2.2 -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##filtering_status=These calls have been filtered by FilterMutectCalls to label false positives with a list of failed filters and true positives with PASS. -##source=FilterMutectCalls -##source=Mutect2 -##tumor_sample=unknown -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT unknown diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr18_flt.vcf.filteringStats.tsv b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr18_flt.vcf.filteringStats.tsv deleted file mode 100644 index 89fafef..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr18_flt.vcf.filteringStats.tsv +++ /dev/null @@ -1,27 +0,0 @@ -#Ln prior of deletion of length 10=-16.11809565095832 -#Ln prior of deletion of length 9=-16.11809565095832 -#Ln prior of deletion of length 8=-16.11809565095832 -#Ln prior of deletion of length 7=-16.11809565095832 -#Ln prior of deletion of length 6=-16.11809565095832 -#Ln prior of deletion of length 5=-16.11809565095832 -#Ln prior of deletion of length 4=-16.11809565095832 -#Ln prior of deletion of length 3=-16.11809565095832 -#Ln prior of deletion of length 2=-16.11809565095832 -#Ln prior of deletion of length 1=-16.11809565095832 -#Ln prior of SNV=-13.815510557964275 -#Ln prior of insertion of length 1=-16.11809565095832 -#Ln prior of insertion of length 2=-16.11809565095832 -#Ln prior of insertion of length 3=-16.11809565095832 -#Ln prior of insertion of length 4=-16.11809565095832 -#Ln prior of insertion of length 5=-16.11809565095832 -#Ln prior of insertion of length 6=-16.11809565095832 -#Ln prior of insertion of length 7=-16.11809565095832 -#Ln prior of insertion of length 8=-16.11809565095832 -#Ln prior of insertion of length 9=-16.11809565095832 -#Ln prior of insertion of length 10=-16.11809565095832 -#Background beta-binomial cluster=weight = 0.5000, alpha = 1.00, beta = 1.00 -#High-AF beta-binomial cluster=weight = 0.5000, alpha = 10.00, beta = 1.00 -#threshold=0.0 -#fdr=0.0 -#sensitivity=0.0 -filter FP FDR FN FNR diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr18_flt.vcf.gz b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr18_flt.vcf.gz deleted file mode 100644 index a473018..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr18_flt.vcf.gz and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr18_flt.vcf.gz.tbi b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr18_flt.vcf.gz.tbi deleted file mode 100644 index b9e0990..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr18_flt.vcf.gz.tbi and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr18_flt.vcf.idx b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr18_flt.vcf.idx deleted file mode 100644 index 80d1ebc..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr18_flt.vcf.idx and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr19.vcf b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr19.vcf deleted file mode 100644 index 8ac5e39..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr19.vcf +++ /dev/null @@ -1,69 +0,0 @@ -##fileformat=VCFv4.2 -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##GATKCommandLine= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##MutectVersion=2.2 -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##filtering_status=Warning: unfiltered Mutect 2 calls. Please run FilterMutectCalls to remove false positives. -##source=Mutect2 -##tumor_sample=unknown -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT unknown diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr19.vcf.idx b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr19.vcf.idx deleted file mode 100644 index a37471b..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr19.vcf.idx and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr19.vcf.stats b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr19.vcf.stats deleted file mode 100644 index 4f62813..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr19.vcf.stats +++ /dev/null @@ -1,2 +0,0 @@ -statistic value -callable 0.0 diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr19_flt.vcf b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr19_flt.vcf deleted file mode 100644 index cffabc7..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr19_flt.vcf +++ /dev/null @@ -1,94 +0,0 @@ -##fileformat=VCFv4.2 -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##GATKCommandLine= -##GATKCommandLine= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##MutectVersion=2.2 -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##filtering_status=These calls have been filtered by FilterMutectCalls to label false positives with a list of failed filters and true positives with PASS. -##source=FilterMutectCalls -##source=Mutect2 -##tumor_sample=unknown -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT unknown diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr19_flt.vcf.filteringStats.tsv b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr19_flt.vcf.filteringStats.tsv deleted file mode 100644 index 89fafef..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr19_flt.vcf.filteringStats.tsv +++ /dev/null @@ -1,27 +0,0 @@ -#Ln prior of deletion of length 10=-16.11809565095832 -#Ln prior of deletion of length 9=-16.11809565095832 -#Ln prior of deletion of length 8=-16.11809565095832 -#Ln prior of deletion of length 7=-16.11809565095832 -#Ln prior of deletion of length 6=-16.11809565095832 -#Ln prior of deletion of length 5=-16.11809565095832 -#Ln prior of deletion of length 4=-16.11809565095832 -#Ln prior of deletion of length 3=-16.11809565095832 -#Ln prior of deletion of length 2=-16.11809565095832 -#Ln prior of deletion of length 1=-16.11809565095832 -#Ln prior of SNV=-13.815510557964275 -#Ln prior of insertion of length 1=-16.11809565095832 -#Ln prior of insertion of length 2=-16.11809565095832 -#Ln prior of insertion of length 3=-16.11809565095832 -#Ln prior of insertion of length 4=-16.11809565095832 -#Ln prior of insertion of length 5=-16.11809565095832 -#Ln prior of insertion of length 6=-16.11809565095832 -#Ln prior of insertion of length 7=-16.11809565095832 -#Ln prior of insertion of length 8=-16.11809565095832 -#Ln prior of insertion of length 9=-16.11809565095832 -#Ln prior of insertion of length 10=-16.11809565095832 -#Background beta-binomial cluster=weight = 0.5000, alpha = 1.00, beta = 1.00 -#High-AF beta-binomial cluster=weight = 0.5000, alpha = 10.00, beta = 1.00 -#threshold=0.0 -#fdr=0.0 -#sensitivity=0.0 -filter FP FDR FN FNR diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr19_flt.vcf.gz b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr19_flt.vcf.gz deleted file mode 100644 index 3ccce9e..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr19_flt.vcf.gz and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr19_flt.vcf.gz.tbi b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr19_flt.vcf.gz.tbi deleted file mode 100644 index b9e0990..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr19_flt.vcf.gz.tbi and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr19_flt.vcf.idx b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr19_flt.vcf.idx deleted file mode 100644 index 984c9da..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr19_flt.vcf.idx and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr1_flt.vcf b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr1_flt.vcf deleted file mode 100644 index d1b2e27..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr1_flt.vcf +++ /dev/null @@ -1,557 +0,0 @@ -##fileformat=VCFv4.2 -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##GATKCommandLine= -##GATKCommandLine= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##MutectVersion=2.2 -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##filtering_status=These calls have been filtered by FilterMutectCalls to label false positives with a list of failed filters and true positives with PASS. -##source=FilterMutectCalls -##source=Mutect2 -##tumor_sample=unknown -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT unknown -chr1 190768 . G A . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,22;MPOS=92;POPAF=7.30;TLOD=5.05 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 733895 . G T . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,21;MFRL=0,0;MMQ=60,25;MPOS=37;POPAF=7.30;TLOD=3.63 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 778034 . GAA G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=1,1|1,1;DP=5;ECNT=3;GERMQ=25;MBQ=34,34;MFRL=0,0;MMQ=56,60;MPOS=31;POPAF=7.30;RPA=7,5;RU=A;STR;STRQ=93;TLOD=7.55 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.501:4:0,0:1,1:1,1:1,1,1,1 -chr1 778051 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=1,2|1,1;DP=5;ECNT=3;GERMQ=38;MBQ=31,33;MFRL=0,0;MMQ=60,56;MPOS=55;POPAF=7.30;TLOD=6.38 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,2:0.400:5:0,0:1,1:2,1:1,2,1,1 -chr1 778082 . TT CC . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,1|1,1;DP=3;ECNT=3;GERMQ=38;MBQ=31,34;MFRL=0,0;MMQ=21,56;MPOS=24;POPAF=7.30;TLOD=8.22 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,2:0.500:3:0,0:0,1:1,1:0,1,1,1 -chr1 778906 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1,1|2,1;DP=5;ECNT=2;GERMQ=37;MBQ=35,32;MFRL=0,0;MMQ=38,32;MPOS=45;POPAF=7.30;TLOD=9.25 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,3:0.600:5:0,0:1,2:1,2:1,1,2,1 -chr1 778984 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1,0|1,1;DP=3;ECNT=2;GERMQ=38;MBQ=35,32;MFRL=0,0;MMQ=30,32;MPOS=123;POPAF=7.30;TLOD=6.37 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,2:0.500:3:0,0:1,1:1,1:1,0,1,1 -chr1 779196 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4,5|1,1;DP=11;ECNT=1;GERMQ=47;MBQ=33,33;MFRL=0,0;MMQ=53,60;MPOS=59;POPAF=7.30;TLOD=5.83 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:9,2:0.250:11:1,0:3,1:5,1:4,5,1,1 -chr1 779968 . T G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|5,6;DP=13;ECNT=1;GERMQ=72;MBQ=0,34;MFRL=0,0;MMQ=60,50;MPOS=65;POPAF=7.30;TLOD=39.07 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,11:0.880:11:0,1:0,5:0,6:0,0,5,6 -chr1 780634 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=1;ECNT=1;GERMQ=44;MBQ=0,29;MFRL=0,0;MMQ=60,32;MPOS=16;POPAF=7.30;TLOD=3.08 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 781047 . C T . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=2,2|1,1;DP=6;ECNT=1;GERMQ=39;MBQ=34,34;MFRL=0,0;MMQ=22,24;MPOS=82;POPAF=7.30;TLOD=4.67 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,2:0.400:6:0,0:2,1:2,1:2,2,1,1 -chr1 783175 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|2,1;DP=3;ECNT=1;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,32;MPOS=13;POPAF=7.30;TLOD=10.65 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.750:3:0,0:0,2:0,2:0,0,2,1 -chr1 794299 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,34;MPOS=52;POPAF=7.30;TLOD=7.35 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 797585 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=2;GERMQ=46;MBQ=0,32;MFRL=0,0;MMQ=60,31;MPOS=21;POPAF=7.30;TLOD=6.85 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 797609 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=1;ECNT=2;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,31;MPOS=7;POPAF=7.30;TLOD=3.28 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,0:0,1:0,0,0,1 -chr1 817186 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|6,5;DP=12;ECNT=4;GERMQ=72;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=45;POPAF=7.30;TLOD=33.35 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,11:0.889:11:0,1:0,5:0,7:0,0,6,5 -chr1 817233 . CA C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=3,5|1,1;DP=11;ECNT=4;GERMQ=35;MBQ=34,35;MFRL=0,0;MMQ=60,30;MPOS=76;POPAF=7.30;RPA=3,2;RU=A;STR;STRQ=93;TLOD=5.39 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:8,2:0.222:10:0,0:3,1:6,1:3,5,1,1 -chr1 817257 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=3,1|2,4;DP=10;ECNT=4;GERMQ=35;MBQ=31,34;MFRL=0,0;MMQ=45,60;MPOS=77;POPAF=7.30;TLOD=20.61 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,6:0.556:10:0,0:3,2:3,4:3,1,2,4 -chr1 817341 . A G,AG . clustered_events AS_FilterStatus=SITE|SITE;AS_SB_TABLE=0,0|4,5|1,1;DP=11;ECNT=4;GERMQ=42;MBQ=0,33,33;MFRL=0,0,0;MMQ=60,60,60;MPOS=62,122;POPAF=7.30,7.30;TLOD=29.10,5.27 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1/2:0,9,2:0.667,0.222:11:0,0,0:0,4,1:0,5,1:0,0,5,6 -chr1 818094 . C G . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0,0|2,1;DP=3;ECNT=1;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,28;MPOS=26;POPAF=7.30;TLOD=9.35 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.750:3:0,0:0,2:0,2:0,0,2,1 -chr1 818802 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|4,2;DP=6;ECNT=2;GERMQ=58;MBQ=0,32;MFRL=0,0;MMQ=60,41;MPOS=94;POPAF=7.30;TLOD=26.30 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,6:0.833:6:0,0:0,4:0,4:0|1:818802_A_G:818802:0,0,4,2 -chr1 818812 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|4,2;DP=6;ECNT=2;GERMQ=58;MBQ=0,32;MFRL=0,0;MMQ=60,41;MPOS=85;POPAF=7.30;TLOD=26.30 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,6:0.833:6:0,0:0,4:0,4:0|1:818802_A_G:818802:0,0,4,2 -chr1 818954 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|1,2;DP=3;ECNT=1;GERMQ=49;MBQ=0,32;MFRL=0,0;MMQ=60,41;MPOS=53;POPAF=7.30;TLOD=10.35 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.800:3:0,2:0,1:0,3:0,0,1,2 -chr1 819123 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|3,3;DP=6;ECNT=1;GERMQ=58;MBQ=0,33;MFRL=0,0;MMQ=60,54;MPOS=85;POPAF=7.30;TLOD=21.26 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.833:6:0,1:0,3:0,4:0,0,3,3 -chr1 819584 . C T . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,32;MFRL=0,0;MMQ=60,21;MPOS=29;POPAF=7.30;TLOD=4.85 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 820395 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=111;POPAF=7.30;TLOD=7.35 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 821000 . T A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=1;ECNT=1;GERMQ=44;MBQ=0,29;MFRL=0,0;MMQ=60,60;MPOS=83;POPAF=7.30;TLOD=3.08 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 822354 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,28;MFRL=0,0;MMQ=60,60;MPOS=101;POPAF=7.30;TLOD=6.25 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 822764 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=122;POPAF=7.30;TLOD=7.15 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 822944 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=107;POPAF=7.30;TLOD=7.45 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 823246 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=102;POPAF=7.30;TLOD=7.02 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 825767 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|2,2;DP=4;ECNT=1;GERMQ=52;MBQ=0,34;MFRL=0,0;MMQ=60,45;MPOS=126;POPAF=7.30;TLOD=14.63 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.750:4:0,0:0,2:0,2:0,0,2,2 -chr1 826352 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=1;ECNT=1;GERMQ=44;MBQ=0,31;MFRL=0,0;MMQ=60,44;MPOS=11;POPAF=7.30;TLOD=3.28 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 837375 . A C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,38;MPOS=93;POPAF=7.30;TLOD=7.25 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 838563 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=1;ECNT=1;GERMQ=44;MBQ=0,29;MFRL=0,0;MMQ=60,50;MPOS=78;POPAF=7.30;TLOD=3.08 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,0:0,1:0,0,0,1 -chr1 839183 . GA G . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=3,1|1,1;DP=6;ECNT=1;GERMQ=29;MBQ=33,33;MFRL=0,0;MMQ=22,21;MPOS=72;POPAF=7.30;RPA=7,6;RU=A;STR;STRQ=93;TLOD=4.93 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,2:0.333:6:0,0:3,1:3,1:3,1,1,1 -chr1 839356 . A C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,31;MFRL=0,0;MMQ=60,37;MPOS=121;POPAF=7.30;TLOD=6.68 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.750:2:0,2:0,0:0,2:0,0,0,2 -chr1 841462 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=19,19|1,1;DP=40;ECNT=1;GERMQ=93;MBQ=33,31;MFRL=0,0;MMQ=54,35;MPOS=38;POPAF=7.30;TLOD=4.35 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:38,2:0.083:40:2,0:19,1:21,1:19,19,1,1 -chr1 841742 . A T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|10,12;DP=26;ECNT=1;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,31;MPOS=70;POPAF=7.30;TLOD=72.93 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,22:0.930:22:0,0:0,10:0,12:0,0,10,12 -chr1 842714 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=18,13|1,1;DP=35;ECNT=1;GERMQ=93;MBQ=33,30;MFRL=0,0;MMQ=60,60;MPOS=51;POPAF=7.30;TLOD=4.29 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:31,2:0.090:33:1,0:18,1:19,1:18,13,1,1 -chr1 842922 . C CCT . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|4,4;DP=11;ECNT=1;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,31;MPOS=104;POPAF=7.30;RPA=2,3;RU=CT;STR;STRQ=93;TLOD=33.78 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.884:8:0,1:0,4:0,6:0,0,4,4 -chr1 843189 . A G . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0,0|11,13;DP=25;ECNT=1;GERMQ=93;MBQ=0,32;MFRL=0,0;MMQ=60,25;MPOS=95;POPAF=7.30;TLOD=73.31 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,24:0.941:24:0,4:0,11:0,15:0,0,11,13 -chr1 844097 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=12,9|1,1;DP=26;ECNT=1;GERMQ=74;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=47;POPAF=7.30;TLOD=5.37 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:21,2:0.130:23:0,0:12,1:12,1:12,9,1,1 -chr1 844647 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|5,3;DP=8;ECNT=1;GERMQ=63;MBQ=0,33;MFRL=0,0;MMQ=60,48;MPOS=31;POPAF=7.30;TLOD=29.04 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.857:8:0,0:0,5:0,5:0,0,5,3 -chr1 845405 . T A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|4,4;DP=8;ECNT=1;GERMQ=63;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=109;POPAF=7.30;TLOD=28.22 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.833:8:0,0:0,4:0,4:0,0,4,4 -chr1 845626 . GT G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=7,7|1,1;DP=19;ECNT=1;GERMQ=47;MBQ=34,34;MFRL=0,0;MMQ=44,60;MPOS=79;POPAF=7.30;RPA=3,2;RU=T;STR;STRQ=93;TLOD=5.17 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:14,2:0.180:16:0,0:7,1:8,1:7,7,1,1 -chr1 846240 . A G . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=2,4|1,1;DP=8;ECNT=1;GERMQ=42;MBQ=32,31;MFRL=0,0;MMQ=22,21;MPOS=138;POPAF=7.30;TLOD=3.67 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,2:0.286:8:2,0:2,1:4,1:2,4,1,1 -chr1 849670 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|3,2;DP=5;ECNT=1;GERMQ=55;MBQ=0,33;MFRL=0,0;MMQ=60,44;MPOS=63;POPAF=7.30;TLOD=17.55 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.800:5:0,0:0,3:0,3:0,0,3,2 -chr1 850142 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=1;ECNT=1;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=25;POPAF=7.30;TLOD=3.48 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 851882 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|2,2;DP=4;ECNT=1;GERMQ=52;MBQ=0,32;MFRL=0,0;MMQ=60,44;MPOS=26;POPAF=7.30;TLOD=13.40 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.750:4:0,0:0,2:0,2:0,0,2,2 -chr1 852019 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1,1|12,9;DP=24;ECNT=1;GERMQ=71;MBQ=31,33;MFRL=0,0;MMQ=60,44;MPOS=83;POPAF=7.30;TLOD=73.51 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,21:0.896:23:0,4:1,12:1,16:1,1,12,9 -chr1 852305 . G T . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,32;MFRL=0,0;MMQ=60,21;MPOS=66;POPAF=7.30;TLOD=4.85 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 853565 . G C . haplotype;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0,0|0,0;DP=3;ECNT=2;GERMQ=46;MBQ=0,32;MFRL=0,0;MMQ=60,25;MPOS=128;POPAF=7.30;TLOD=8.47 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,2:0.764:2:0,0:0,1:0,2:0|1:853565_G_C:853565:0,0,1,1 -chr1 853572 . G A . haplotype;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=2;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,25;MPOS=135;POPAF=7.30;TLOD=8.52 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,2:0.750:2:0,0:0,1:0,2:0|1:853565_G_C:853565:0,0,1,1 -chr1 855378 . GTA G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|2,1;DP=4;ECNT=1;GERMQ=37;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=58;POPAF=7.30;TLOD=12.98 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.765:3:0,0:0,2:0,2:0,0,2,1 -chr1 855801 . A G . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=4,10|1,1;DP=20;ECNT=1;GERMQ=57;MBQ=32,33;MFRL=0,0;MMQ=32,24;MPOS=104;POPAF=7.30;TLOD=3.54 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:14,2:0.141:16:4,0:4,1:11,1:4,10,1,1 -chr1 856029 . T C . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=9,5|1,1;DP=16;ECNT=1;GERMQ=57;MBQ=32,31;MFRL=0,0;MMQ=22,22;MPOS=130;POPAF=7.30;TLOD=3.31 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:14,2:0.167:16:0,0:9,1:9,1:9,5,1,1 -chr1 856666 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=19,15|1,1;DP=36;ECNT=3;GERMQ=93;MBQ=33,33;MFRL=0,0;MMQ=40,48;MPOS=26;POPAF=7.30;TLOD=4.89 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:34,2:0.087:36:0,0:18,1:20,1:19,15,1,1 -chr1 856691 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=20,15|1,1;DP=37;ECNT=3;GERMQ=93;MBQ=33,33;MFRL=0,0;MMQ=43,52;MPOS=79;POPAF=7.30;TLOD=4.81 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:35,2:0.080:37:0,0:20,1:22,1:20,15,1,1 -chr1 856716 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=18,13|1,1;DP=34;ECNT=3;GERMQ=93;MBQ=33,34;MFRL=0,0;MMQ=46,54;MPOS=89;POPAF=7.30;TLOD=5.01 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:31,2:0.080:33:0,0:18,1:22,1:18,13,1,1 -chr1 856883 . A G . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0,0|4,5;DP=11;ECNT=1;GERMQ=66;MBQ=0,35;MFRL=0,0;MMQ=60,21;MPOS=102;POPAF=7.30;TLOD=22.37 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,9:0.906:9:0,4:0,4:0,8:0,0,4,5 -chr1 857100 . C T . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0,0|9,7;DP=16;ECNT=1;GERMQ=87;MBQ=0,32;MFRL=0,0;MMQ=60,21;MPOS=69;POPAF=7.30;TLOD=40.02 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,16:0.917:16:0,1:0,8:0,10:0,0,9,7 -chr1 857234 . T C . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=7,10|1,1;DP=19;ECNT=1;GERMQ=64;MBQ=33,34;MFRL=0,0;MMQ=24,23;MPOS=40;POPAF=7.30;TLOD=3.43 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:17,2:0.154:19:3,0:7,1:10,1:7,10,1,1 -chr1 858135 . C CT . map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=3,3|1,1;DP=8;ECNT=1;GERMQ=29;MBQ=32,34;MFRL=0,0;MMQ=28,27;MPOS=45;POPAF=7.30;RPA=7,8;RU=T;STR;STRQ=93;TLOD=4.78 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,2:0.333:8:1,0:2,1:3,1:3,3,1,1 -chr1 859166 . CTTA C . map_qual;slippage;weak_evidence AS_FilterStatus=weak_evidence,map_qual;AS_SB_TABLE=3,3|0,1;DP=7;ECNT=1;GERMQ=26;MBQ=34,34;MFRL=0,0;MMQ=29,22;MPOS=53;POPAF=7.30;RPA=3,2;RU=TTA;STR;STRQ=1;TLOD=3.03 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,1:0.286:7:0,0:3,0:4,1:3,3,0,1 -chr1 859348 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1,2|1,1;DP=5;ECNT=1;GERMQ=38;MBQ=33,24;MFRL=0,0;MMQ=43,36;MPOS=113;POPAF=7.30;TLOD=3.75 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,2:0.400:5:1,0:1,0:2,1:1,2,1,1 -chr1 897018 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,35;MFRL=0,0;MMQ=60,45;MPOS=106;POPAF=7.30;TLOD=7.05 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 901763 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1,1|1,1;DP=4;ECNT=1;GERMQ=37;MBQ=34,34;MFRL=0,0;MMQ=60,60;MPOS=43;POPAF=7.30;TLOD=6.88 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.500:4:0,0:1,1:1,1:1,1,1,1 -chr1 902641 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=73;POPAF=7.30;TLOD=7.02 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 902949 . G GC . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=2;GERMQ=33;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=110;POPAF=7.30;RPA=4,5;RU=C;STR;STRQ=93;TLOD=6.22 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 903007 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=2;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=51;POPAF=7.30;TLOD=7.45 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 904947 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3,2|2,2;DP=9;ECNT=1;GERMQ=37;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=116;POPAF=7.30;TLOD=13.03 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:5,4:0.429:9:0,0:3,2:3,2:3,2,2,2 -chr1 905705 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3,4|2,3;DP=13;ECNT=1;GERMQ=37;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=89;POPAF=7.30;TLOD=16.64 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,5:0.444:12:1,0:3,2:4,3:3,4,2,3 -chr1 906014 . GC G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4,6|1,1;DP=13;ECNT=1;GERMQ=39;MBQ=33,30;MFRL=0,0;MMQ=60,60;MPOS=89;POPAF=7.30;RPA=3,2;RU=C;STR;STRQ=93;TLOD=4.61 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:10,2:0.200:12:0,0:3,1:7,1:4,6,1,1 -chr1 906535 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=11,11|1,1;DP=24;ECNT=2;GERMQ=76;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=125;POPAF=7.30;TLOD=5.14 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:22,2:0.126:24:1,0:10,1:13,1:11,11,1,1 -chr1 906633 . T G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3,3|2,2;DP=12;ECNT=2;GERMQ=37;MBQ=31,34;MFRL=0,0;MMQ=60,60;MPOS=78;POPAF=7.30;TLOD=12.47 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,4:0.427:10:0,0:3,2:3,2:3,3,2,2 -chr1 906982 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|8,8;DP=17;ECNT=2;GERMQ=87;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=40;POPAF=7.30;TLOD=64.21 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,16:0.909:16:0,0:0,8:0,9:0|1:906982_C_T:906982:0,0,8,8 -chr1 907022 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3,4|5,4;DP=16;ECNT=2;GERMQ=35;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=89;POPAF=7.30;TLOD=29.02 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:7,9:0.583:16:0,0:3,5:4,6:0|1:906982_C_T:906982:3,4,5,4 -chr1 907236 . TAAA T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=4;ECNT=1;GERMQ=26;MBQ=0,23;MFRL=0,0;MMQ=60,60;MPOS=71;POPAF=7.30;RPA=14,11;RU=A;STR;STRQ=93;TLOD=7.69 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.686:2:0,0:0,1:0,1:0,0,1,1 -chr1 907445 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=91;POPAF=7.30;TLOD=7.35 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 908025 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2,2|3,2;DP=9;ECNT=1;GERMQ=36;MBQ=31,32;MFRL=0,0;MMQ=60,60;MPOS=64;POPAF=7.30;TLOD=16.71 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,5:0.571:9:0,0:2,3:2,3:2,2,3,2 -chr1 908285 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2,5|1,1;DP=9;ECNT=1;GERMQ=43;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=24;POPAF=7.30;TLOD=5.70 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,2:0.250:9:2,0:2,1:5,1:2,5,1,1 -chr1 909894 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1,1|2,2;DP=6;ECNT=2;GERMQ=36;MBQ=34,31;MFRL=0,0;MMQ=60,60;MPOS=83;POPAF=7.30;TLOD=13.23 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:2,4:0.600:6:0,0:1,2:1,2:0|1:909894_G_T:909894:1,1,2,2 -chr1 909903 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|3,3;DP=6;ECNT=2;GERMQ=58;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=88;POPAF=7.30;TLOD=24.95 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,6:0.800:6:0,0:0,3:0,3:0|1:909894_G_T:909894:0,0,3,3 -chr1 910255 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1,1|3,2;DP=7;ECNT=1;GERMQ=37;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=20;POPAF=7.30;TLOD=16.78 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,5:0.667:7:0,0:1,3:1,3:1,1,3,2 -chr1 910462 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4,5|1,1;DP=12;ECNT=1;GERMQ=47;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=128;POPAF=7.30;TLOD=5.71 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:9,2:0.222:11:1,0:4,1:6,1:4,5,1,1 -chr1 910558 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=6,5|3,3;DP=17;ECNT=1;GERMQ=39;MBQ=35,33;MFRL=0,0;MMQ=60,60;MPOS=60;POPAF=7.30;TLOD=16.90 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:11,6:0.498:17:0,1:5,3:5,5:6,5,3,3 -chr1 910698 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2,2|1,2;DP=7;ECNT=1;GERMQ=37;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=93;POPAF=7.30;TLOD=9.55 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,3:0.571:7:0,1:2,1:2,3:2,2,1,2 -chr1 910940 . C CT . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=6,2|1,1;DP=10;ECNT=5;GERMQ=32;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=93;POPAF=7.30;RPA=4,5;RU=T;STR;STRQ=93;TLOD=4.82 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:8,2:0.222:10:0,0:6,1:6,1:6,2,1,1 -chr1 910958 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|7,4;DP=11;ECNT=5;GERMQ=72;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=58;POPAF=7.30;TLOD=42.05 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,11:0.889:11:0,0:0,7:0,7:0,0,7,4 -chr1 911018 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=4,3|6,5;DP=18;ECNT=5;GERMQ=35;MBQ=35,31;MFRL=0,0;MMQ=60,60;MPOS=24;POPAF=7.30;TLOD=33.25 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,11:0.583:18:1,0:3,6:4,6:4,3,6,5 -chr1 911033 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=9,8|1,1;DP=19;ECNT=5;GERMQ=64;MBQ=34,32;MFRL=0,0;MMQ=60,60;MPOS=140;POPAF=7.30;TLOD=5.31 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:17,2:0.167:19:1,0:8,1:9,1:9,8,1,1 -chr1 911109 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|8,10;DP=19;ECNT=5;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=90;POPAF=7.30;TLOD=66.49 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,18:0.925:18:0,1:0,7:0,11:0,0,8,10 -chr1 911219 . T G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5,5|1,1;DP=12;ECNT=2;GERMQ=49;MBQ=33,30;MFRL=0,0;MMQ=60,60;MPOS=25;POPAF=7.30;TLOD=5.33 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:10,2:0.250:12:0,0:5,1:5,1:0|1:911219_T_G:911219:5,5,1,1 -chr1 911220 . CT C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|6,6;DP=12;ECNT=2;GERMQ=65;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=26;POPAF=7.30;RPA=2,1;RU=T;STR;STRQ=93;TLOD=45.63 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,12:0.875:12:0,0:0,6:0,6:0|1:911219_T_G:911219:0,0,6,6 -chr1 911848 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4,4|1,1;DP=10;ECNT=2;GERMQ=45;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=38;POPAF=7.30;TLOD=6.18 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:8,2:0.286:10:0,0:4,1:4,1:4,4,1,1 -chr1 911870 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|7,7;DP=14;ECNT=2;GERMQ=81;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=63;POPAF=7.30;TLOD=50.17 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,14:0.889:14:0,0:0,7:0,7:0,0,7,7 -chr1 912111 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2,2|1,1;DP=7;ECNT=1;GERMQ=39;MBQ=34,32;MFRL=0,0;MMQ=60,60;MPOS=9;POPAF=7.30;TLOD=6.23 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,2:0.396:6:0,0:2,1:2,1:2,2,1,1 -chr1 912710 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1,1|1,2;DP=6;ECNT=1;GERMQ=37;MBQ=32,34;MFRL=0,0;MMQ=60,60;MPOS=4;POPAF=7.30;TLOD=10.25 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,3:0.600:5:0,0:1,1:1,2:1,1,1,2 -chr1 913065 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=3,3|2,3;DP=11;ECNT=3;GERMQ=36;MBQ=32,31;MFRL=0,0;MMQ=60,60;MPOS=23;POPAF=7.30;TLOD=13.01 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,5:0.444:11:2,1:2,2:4,3:3,3,2,3 -chr1 913076 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=3,3|3,4;DP=13;ECNT=3;GERMQ=35;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=31;POPAF=7.30;TLOD=23.19 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,7:0.556:13:1,1:2,3:3,4:3,3,3,4 -chr1 913086 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=5,6|1,1;DP=13;ECNT=3;GERMQ=51;MBQ=35,32;MFRL=0,0;MMQ=60,60;MPOS=34;POPAF=7.30;TLOD=5.51 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:11,2:0.222:13:1,1:5,0:6,1:5,6,1,1 -chr1 913274 . TG T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=4,2|3,3;DP=12;ECNT=3;GERMQ=26;MBQ=31,33;MFRL=0,0;MMQ=60,60;MPOS=77;POPAF=7.30;RPA=3,2;RU=G;STR;STRQ=93;TLOD=18.97 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,6:0.444:12:0,0:3,3:4,3:4,2,3,3 -chr1 913337 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=6,7|1,1;DP=16;ECNT=3;GERMQ=55;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=78;POPAF=7.30;TLOD=5.47 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:13,2:0.197:15:0,0:6,1:7,1:6,7,1,1 -chr1 913358 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=4,3|3,3;DP=14;ECNT=3;GERMQ=36;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=70;POPAF=7.30;TLOD=19.36 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,6:0.400:13:0,0:4,3:5,3:4,3,3,3 -chr1 913870 . CCG C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4,4|1,1;DP=13;ECNT=1;GERMQ=33;MBQ=35,35;MFRL=0,0;MMQ=60,60;MPOS=82;POPAF=7.30;RPA=2,1;RU=CG;STR;STRQ=93;TLOD=7.33 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:8,2:0.245:10:0,0:4,1:5,1:4,4,1,1 -chr1 914618 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|4,5;DP=10;ECNT=1;GERMQ=66;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=96;POPAF=7.30;TLOD=33.21 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,9:0.857:9:0,1:0,3:0,5:0,0,4,5 -chr1 914991 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=1;ECNT=1;GERMQ=44;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=19;POPAF=7.30;TLOD=3.38 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 915810 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3,3|6,4;DP=16;ECNT=2;GERMQ=35;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=78;POPAF=7.30;TLOD=48.47 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:6,10:0.636:16:0,0:3,6:3,6:0|1:915810_G_A:915810:3,3,6,4 -chr1 915824 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3,3|7,7;DP=20;ECNT=2;GERMQ=39;MBQ=35,35;MFRL=0,0;MMQ=60,60;MPOS=82;POPAF=7.30;TLOD=55.04 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:6,14:0.667:20:0,0:3,7:3,7:0|1:915810_G_A:915810:3,3,7,7 -chr1 916119 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|4,1;DP=5;ECNT=1;GERMQ=55;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=32;POPAF=7.30;TLOD=17.69 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.833:5:0,0:0,4:0,4:0,0,4,1 -chr1 916254 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=6,8|1,1;DP=16;ECNT=1;GERMQ=57;MBQ=33,31;MFRL=0,0;MMQ=60,60;MPOS=131;POPAF=7.30;TLOD=5.20 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:14,2:0.182:16:2,0:6,1:8,1:6,8,1,1 -chr1 916377 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|2,2;DP=4;ECNT=1;GERMQ=52;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=28;POPAF=7.30;TLOD=14.71 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.800:4:0,1:0,2:0,3:0,0,2,2 -chr1 916657 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=2,2|6,7;DP=18;ECNT=3;GERMQ=42;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=87;POPAF=7.30;TLOD=45.17 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,13:0.692:17:1,1:2,6:3,8:2,2,6,7 -chr1 916683 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=3,3|4,5;DP=16;ECNT=3;GERMQ=35;MBQ=32,32;MFRL=0,0;MMQ=60,60;MPOS=90;POPAF=7.30;TLOD=30.17 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,9:0.546:15:1,1:3,4:4,5:3,3,4,5 -chr1 916753 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|5,7;DP=12;ECNT=3;GERMQ=75;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=78;POPAF=7.30;TLOD=43.87 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,12:0.900:12:0,1:0,5:0,8:0,0,5,7 -chr1 917166 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=11,8|1,1;DP=21;ECNT=1;GERMQ=69;MBQ=34,31;MFRL=0,0;MMQ=60,60;MPOS=122;POPAF=7.30;TLOD=4.86 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:19,2:0.143:21:0,0:11,1:11,1:11,8,1,1 -chr1 917284 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3,3|2,3;DP=11;ECNT=2;GERMQ=36;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=65;POPAF=7.30;TLOD=15.64 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,5:0.444:11:1,1:3,2:4,3:3,3,2,3 -chr1 917378 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=8,6|4,1;DP=19;ECNT=2;GERMQ=45;MBQ=34,35;MFRL=0,0;MMQ=60,60;MPOS=73;POPAF=7.30;TLOD=15.48 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:14,5:0.333:19:1,0:8,4:9,4:8,6,4,1 -chr1 917495 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4,4|7,8;DP=23;ECNT=1;GERMQ=37;MBQ=34,32;MFRL=0,0;MMQ=60,60;MPOS=26;POPAF=7.30;TLOD=45.76 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:8,15:0.600:23:1,1:4,6:5,8:4,4,7,8 -chr1 917584 . T G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|8,5;DP=13;ECNT=1;GERMQ=78;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=97;POPAF=7.30;TLOD=47.30 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,13:0.909:13:0,1:0,8:0,9:0,0,8,5 -chr1 917859 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3,4|3,3;DP=13;ECNT=1;GERMQ=36;MBQ=32,31;MFRL=0,0;MMQ=60,60;MPOS=68;POPAF=7.30;TLOD=15.85 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,6:0.400:13:2,0:3,3:5,3:3,4,3,3 -chr1 918443 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2,0|2,2;DP=7;ECNT=1;GERMQ=36;MBQ=31,33;MFRL=0,0;MMQ=60,60;MPOS=96;POPAF=7.30;TLOD=13.13 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,4:0.571:6:0,0:2,2:2,3:2,0,2,2 -chr1 918574 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1,2|2,3;DP=8;ECNT=1;GERMQ=36;MBQ=35,32;MFRL=0,0;MMQ=60,60;MPOS=20;POPAF=7.30;TLOD=16.20 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,5:0.571:8:1,1:1,2:2,3:1,2,2,3 -chr1 918870 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2,2|2,2;DP=8;ECNT=2;GERMQ=36;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=80;POPAF=7.30;TLOD=13.53 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:4,4:0.429:8:0,0:2,2:3,2:0|1:918870_A_G:918870:2,2,2,2 -chr1 918888 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3,2|1,1;DP=9;ECNT=2;GERMQ=40;MBQ=32,32;MFRL=0,0;MMQ=60,60;MPOS=81;POPAF=7.30;TLOD=5.92 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 1|0:5,2:0.329:7:0,0:3,1:3,1:1|0:918870_A_G:918870:3,2,1,1 -chr1 919297 . A T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3,4|1,1;DP=9;ECNT=1;GERMQ=43;MBQ=32,31;MFRL=0,0;MMQ=60,60;MPOS=113;POPAF=7.30;TLOD=5.87 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,2:0.286:9:0,0:3,1:4,1:3,4,1,1 -chr1 919397 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1,1|6,6;DP=14;ECNT=1;GERMQ=48;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=75;POPAF=7.30;TLOD=43.57 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,12:0.778:14:0,0:1,6:1,6:1,1,6,6 -chr1 919598 . A C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5,6|4,4;DP=19;ECNT=1;GERMQ=36;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=52;POPAF=7.30;TLOD=26.45 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:11,8:0.417:19:1,0:5,4:6,4:5,6,4,4 -chr1 919695 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1,3|1,2;DP=8;ECNT=1;GERMQ=37;MBQ=35,34;MFRL=0,0;MMQ=60,60;MPOS=84;POPAF=7.30;TLOD=9.51 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,3:0.429:7:1,1:1,1:3,2:1,3,1,2 -chr1 920331 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=11,8|1,1;DP=22;ECNT=1;GERMQ=69;MBQ=35,30;MFRL=0,0;MMQ=60,60;MPOS=59;POPAF=7.30;TLOD=4.75 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:19,2:0.141:21:0,0:11,1:11,1:11,8,1,1 -chr1 920719 . T G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5,6|3,4;DP=18;ECNT=2;GERMQ=37;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=55;POPAF=7.30;TLOD=28.14 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:11,7:0.417:18:1,1:5,3:6,4:0|1:920719_T_G:920719:5,6,3,4 -chr1 920728 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5,6|3,4;DP=18;ECNT=2;GERMQ=37;MBQ=32,32;MFRL=0,0;MMQ=60,60;MPOS=61;POPAF=7.30;TLOD=28.14 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:11,7:0.417:18:1,1:5,3:6,4:0|1:920719_T_G:920719:5,6,3,4 -chr1 921056 . TG T . weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=3,2|1,1;DP=7;ECNT=2;GERMQ=30;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=82;POPAF=7.30;RPA=4,3;RU=G;STR;STRQ=93;TLOD=3.77 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:5,2:0.335:7:0,0:2,1:3,1:3,2,1,1 -chr1 921096 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2,2|2,1;DP=7;ECNT=2;GERMQ=37;MBQ=31,31;MFRL=0,0;MMQ=60,60;MPOS=58;POPAF=7.30;TLOD=7.00 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,3:0.500:7:0,0:2,2:2,2:2,2,2,1 -chr1 922226 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3,2|1,1;DP=7;ECNT=1;GERMQ=40;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=80;POPAF=7.30;TLOD=6.25 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:5,2:0.333:7:0,0:3,1:3,1:3,2,1,1 -chr1 922348 . T G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1,0|5,5;DP=11;ECNT=1;GERMQ=53;MBQ=31,34;MFRL=0,0;MMQ=60,60;MPOS=76;POPAF=7.30;TLOD=37.44 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,10:0.778:11:0,1:1,5:1,6:1,0,5,5 -chr1 922660 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|2,1;DP=3;ECNT=2;GERMQ=49;MBQ=0,29;MFRL=0,0;MMQ=60,60;MPOS=57;POPAF=7.30;TLOD=10.15 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.750:3:0,0:0,2:0,2:0,0,2,1 -chr1 922671 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|2,1;DP=3;ECNT=2;GERMQ=49;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=46;POPAF=7.30;TLOD=10.65 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.750:3:0,0:0,2:0,2:0,0,2,1 -chr1 923421 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=1;ECNT=1;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=41;POPAF=7.30;TLOD=3.48 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 924024 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|4,3;DP=7;ECNT=1;GERMQ=60;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=90;POPAF=7.30;TLOD=25.34 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,7:0.833:7:0,0:0,4:0,4:0,0,4,3 -chr1 924305 . G A . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=3,2|1,2;DP=10;ECNT=4;GERMQ=38;MBQ=35,32;MFRL=0,0;MMQ=60,60;MPOS=112;POPAF=7.30;TLOD=11.69 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:5,3:0.427:8:0,1:3,1:3,2:0|1:924305_G_A:924305:3,2,1,2 -chr1 924310 . C G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|4,5;DP=9;ECNT=4;GERMQ=66;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=60;POPAF=7.30;TLOD=35.98 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,9:0.857:9:0,1:0,4:0,5:0,0,4,5 -chr1 924314 . C A . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=3,3|1,2;DP=12;ECNT=4;GERMQ=39;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=121;POPAF=7.30;TLOD=11.66 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:6,3:0.426:9:0,1:3,1:3,2:0|1:924305_G_A:924305:3,3,1,2 -chr1 924321 . C G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|8,7;DP=15;ECNT=4;GERMQ=84;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=12;POPAF=7.30;TLOD=58.21 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,15:0.909:15:0,1:0,7:0,9:0,0,8,7 -chr1 924533 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|11,14;DP=25;ECNT=1;GERMQ=93;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=85;POPAF=7.30;TLOD=91.24 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,25:0.937:25:0,2:0,11:0,14:0,0,11,14 -chr1 925036 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1,1|1,2;DP=6;ECNT=2;GERMQ=37;MBQ=31,33;MFRL=0,0;MMQ=60,60;MPOS=53;POPAF=7.30;TLOD=10.25 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,3:0.600:5:0,0:1,1:1,2:1,1,1,2 -chr1 925081 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|1,2;DP=3;ECNT=2;GERMQ=49;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=98;POPAF=7.30;TLOD=10.15 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.750:3:0,0:0,1:0,2:0,0,1,2 -chr1 925628 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|2,2;DP=4;ECNT=1;GERMQ=52;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=100;POPAF=7.30;TLOD=15.23 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.750:4:0,0:0,2:0,2:0,0,2,2 -chr1 926250 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1,0|3,3;DP=7;ECNT=1;GERMQ=43;MBQ=28,33;MFRL=0,0;MMQ=60,60;MPOS=53;POPAF=7.30;TLOD=20.96 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,6:0.667:7:0,0:1,3:1,3:1,0,3,3 -chr1 926428 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|3,5;DP=10;ECNT=1;GERMQ=63;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=81;POPAF=7.30;TLOD=29.28 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.864:8:0,0:0,3:0,5:0,0,3,5 -chr1 926713 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|2,1;DP=3;ECNT=2;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=81;POPAF=7.30;TLOD=10.95 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.750:3:0,0:0,2:0,2:0,0,2,1 -chr1 926744 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=4;ECNT=2;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=57;POPAF=7.30;TLOD=7.08 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.684:2:0,0:0,1:0,1:0,0,1,1 -chr1 927003 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|1,2;DP=3;ECNT=2;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=57;POPAF=7.30;TLOD=13.02 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.750:3:0,1:0,1:0,2:0|1:927003_C_T:927003:0,0,1,2 -chr1 927009 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|1,2;DP=3;ECNT=2;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=63;POPAF=7.30;TLOD=13.02 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.750:3:0,1:0,1:0,2:0|1:927003_C_T:927003:0,0,1,2 -chr1 927443 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3,4|1,1;DP=9;ECNT=2;GERMQ=43;MBQ=35,33;MFRL=0,0;MMQ=60,60;MPOS=57;POPAF=7.30;TLOD=5.98 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,2:0.286:9:0,0:3,1:4,1:3,4,1,1 -chr1 927486 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2,4|2,2;DP=14;ECNT=2;GERMQ=37;MBQ=32,32;MFRL=0,0;MMQ=60,60;MPOS=70;POPAF=7.30;TLOD=12.43 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,4:0.372:10:0,0:2,2:4,2:2,4,2,2 -chr1 927744 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|6,5;DP=11;ECNT=1;GERMQ=72;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=67;POPAF=7.30;TLOD=40.47 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,11:0.875:11:0,0:0,6:0,6:0,0,6,5 -chr1 928176 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=1;ECNT=2;GERMQ=44;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=132;POPAF=7.30;TLOD=4.20 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,1:0,0:0,1:0|1:928176_G_A:928176:0,0,0,1 -chr1 928182 . A C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=1;ECNT=2;GERMQ=44;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=138;POPAF=7.30;TLOD=4.20 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,1:0,0:0,1:0|1:928176_G_A:928176:0,0,0,1 -chr1 928622 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|1,2;DP=3;ECNT=1;GERMQ=49;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=61;POPAF=7.30;TLOD=10.45 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.750:3:0,1:0,1:0,2:0,0,1,2 -chr1 929346 . T A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|1,2;DP=4;ECNT=3;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=107;POPAF=7.30;TLOD=10.73 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.800:3:0,1:0,1:0,3:0,0,1,2 -chr1 929375 . A G . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0,0|1,2;DP=3;ECNT=3;GERMQ=49;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=39;POPAF=7.30;TLOD=13.02 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.750:3:0,1:0,1:0,2:0|1:929375_A_G:929375:0,0,1,2 -chr1 929377 . G A . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0,0|1,2;DP=3;ECNT=3;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=41;POPAF=7.30;TLOD=13.02 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.750:3:0,1:0,1:0,2:0|1:929375_A_G:929375:0,0,1,2 -chr1 929839 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=38;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=140;POPAF=7.30;TLOD=3.15 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,1:0.500:2:0,0:1,1:1,1:1,0,1,0 -chr1 930939 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=57;POPAF=7.30;TLOD=7.25 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 931513 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=1,0|1,1;DP=3;ECNT=3;GERMQ=38;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=84;POPAF=7.30;TLOD=6.58 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,2:0.500:3:0,0:1,1:1,1:1,0,1,1 -chr1 931540 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|2,2;DP=4;ECNT=3;GERMQ=52;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=114;POPAF=7.30;TLOD=14.23 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.750:4:0,0:0,2:0,2:0,0,2,2 -chr1 931558 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=2,1|2,1;DP=6;ECNT=3;GERMQ=37;MBQ=32,32;MFRL=0,0;MMQ=60,60;MPOS=99;POPAF=7.30;TLOD=9.35 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,3:0.500:6:0,0:2,2:2,2:2,1,2,1 -chr1 932204 . A T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=1;ECNT=2;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=28;POPAF=7.30;TLOD=3.48 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 932255 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1,1|2,1;DP=5;ECNT=2;GERMQ=37;MBQ=33,31;MFRL=0,0;MMQ=60,60;MPOS=101;POPAF=7.30;TLOD=9.65 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,3:0.600:5:0,0:1,2:1,2:1,1,2,1 -chr1 932512 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,1|1,1;DP=3;ECNT=1;GERMQ=38;MBQ=31,33;MFRL=0,0;MMQ=60,60;MPOS=104;POPAF=7.30;TLOD=6.45 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,2:0.500:3:1,0:0,1:1,1:0,1,1,1 -chr1 932613 . GTTTC G . slippage AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=4;ECNT=1;GERMQ=27;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=38;POPAF=7.30;RPA=2,1;RU=TTTC;STR;STRQ=1;TLOD=6.74 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.687:2:0,0:0,1:0,1:0,0,1,1 -chr1 933511 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=2;GERMQ=46;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=73;POPAF=7.30;TLOD=7.55 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 933548 . A AG . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=2;GERMQ=33;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=110;POPAF=7.30;RPA=6,7;RU=G;STR;STRQ=93;TLOD=5.92 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 936972 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|2,2;DP=4;ECNT=1;GERMQ=52;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=98;POPAF=7.30;TLOD=14.73 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.750:4:0,0:0,2:0,2:0,0,2,2 -chr1 937396 . GCC G . weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=0,0|0,0;DP=1;ECNT=1;GERMQ=32;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=125;POPAF=7.30;RPA=11,9;RU=C;STR;STRQ=93;TLOD=3.25 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,0:0,1:0,0,0,1 -chr1 938222 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=3;POPAF=7.30;TLOD=7.05 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 938650 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=1;ECNT=1;GERMQ=44;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=147;POPAF=7.30;TLOD=3.28 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 939038 . A C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=19;POPAF=7.30;TLOD=7.15 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 939864 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2,2|1,1;DP=6;ECNT=1;GERMQ=39;MBQ=35,31;MFRL=0,0;MMQ=60,60;MPOS=49;POPAF=7.30;TLOD=5.97 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,2:0.400:6:0,0:2,1:2,1:2,2,1,1 -chr1 941119 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=21;POPAF=7.30;TLOD=7.31 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 941767 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4,4|2,2;DP=12;ECNT=1;GERMQ=39;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=77;POPAF=7.30;TLOD=12.66 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:8,4:0.375:12:0,0:4,2:4,2:4,4,2,2 -chr1 942335 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=43;POPAF=7.30;TLOD=7.15 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 942451 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|4,1;DP=5;ECNT=1;GERMQ=55;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=45;POPAF=7.30;TLOD=18.09 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.833:5:0,0:0,4:0,4:0,0,4,1 -chr1 942701 . GGC G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=17,18|1,1;DP=37;ECNT=1;GERMQ=93;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=69;POPAF=7.30;RPA=2,1;RU=GC;STR;STRQ=93;TLOD=6.27 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:35,2:0.091:37:1,0:17,1:19,1:17,18,1,1 -chr1 943946 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=25,21|1,1;DP=48;ECNT=1;GERMQ=93;MBQ=34,32;MFRL=0,0;MMQ=60,60;MPOS=117;POPAF=7.30;TLOD=4.44 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:46,2:0.067:48:2,0:25,1:27,1:25,21,1,1 -chr1 944259 . CAA C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=42,42|1,1;DP=87;ECNT=3;GERMQ=93;MBQ=34,34;MFRL=0,0;MMQ=60,60;MPOS=100;POPAF=7.30;RPA=6,4;RU=A;STR;STRQ=93;TLOD=5.41 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:84,2:0.039:86:0,0:43,1:48,1:42,42,1,1 -chr1 944296 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=1,1|55,48;DP=106;ECNT=3;GERMQ=93;MBQ=29,32;MFRL=0,0;MMQ=60,60;MPOS=89;POPAF=7.30;TLOD=367.81 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,103:0.984:105:0,0:0,55:0,60:1,1,55,48 -chr1 944307 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|55,51;DP=107;ECNT=3;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=85;POPAF=7.30;TLOD=398.76 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,106:0.984:106:0,0:0,55:0,62:0,0,55,51 -chr1 944573 . T A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=34,39|1,1;DP=82;ECNT=1;GERMQ=93;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=112;POPAF=7.30;TLOD=4.03 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:73,2:0.043:75:9,0:34,1:43,1:34,39,1,1 -chr1 944722 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=26,29|1,1;DP=59;ECNT=1;GERMQ=93;MBQ=33,34;MFRL=0,0;MMQ=59,60;MPOS=22;POPAF=7.30;TLOD=4.74 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:55,2:0.060:57:3,0:26,1:30,1:26,29,1,1 -chr1 944858 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|2,2;DP=4;ECNT=1;GERMQ=52;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=67;POPAF=7.30;TLOD=14.83 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.750:4:0,0:0,2:0,2:0,0,2,2 -chr1 945259 . TC T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2,1|0,2;DP=5;ECNT=1;GERMQ=28;MBQ=34,31;MFRL=0,0;MMQ=60,60;MPOS=53;POPAF=7.30;RPA=2,1;RU=C;STR;STRQ=93;TLOD=6.00 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,2:0.500:5:0,0:2,0:2,2:2,1,0,2 -chr1 945827 . A T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5,3|1,1;DP=10;ECNT=1;GERMQ=45;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=45;POPAF=7.30;TLOD=5.83 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:8,2:0.250:10:0,0:5,1:5,1:5,3,1,1 -chr1 946247 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2,2|1,1;DP=6;ECNT=1;GERMQ=39;MBQ=34,33;MFRL=0,0;MMQ=60,39;MPOS=45;POPAF=7.30;TLOD=6.15 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,2:0.333:6:1,0:2,1:3,1:2,2,1,1 -chr1 946538 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2,2|1,1;DP=6;ECNT=1;GERMQ=39;MBQ=33,34;MFRL=0,0;MMQ=60,31;MPOS=10;POPAF=7.30;TLOD=4.87 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,2:0.500:6:0,1:2,1:2,2:2,2,1,1 -chr1 947371 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3,1|1,1;DP=6;ECNT=2;GERMQ=39;MBQ=32,34;MFRL=0,0;MMQ=60,60;MPOS=37;POPAF=7.30;TLOD=6.35 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,2:0.333:6:0,0:3,1:3,1:3,1,1,1 -chr1 947423 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|5,3;DP=9;ECNT=2;GERMQ=63;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=97;POPAF=7.30;TLOD=29.94 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.857:8:0,0:0,5:0,5:0,0,5,3 -chr1 948245 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=1;ECNT=1;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=59;POPAF=7.30;TLOD=3.48 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 948711 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|3,2;DP=5;ECNT=1;GERMQ=55;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=109;POPAF=7.30;TLOD=18.88 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.800:5:0,0:0,3:0,3:0,0,3,2 -chr1 949171 . GAGAA G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1,1|2,1;DP=7;ECNT=1;GERMQ=17;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=26;POPAF=7.30;TLOD=12.40 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,3:0.606:5:0,0:1,2:1,2:1,1,2,1 -chr1 949435 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|2,2;DP=4;ECNT=1;GERMQ=52;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=46;POPAF=7.30;TLOD=14.43 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.750:4:0,0:0,2:0,2:0,0,2,2 -chr1 949628 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2,2|1,1;DP=6;ECNT=1;GERMQ=39;MBQ=33,31;MFRL=0,0;MMQ=60,60;MPOS=78;POPAF=7.30;TLOD=5.97 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,2:0.400:6:0,0:2,1:2,1:2,2,1,1 -chr1 950319 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=128;POPAF=7.30;TLOD=7.25 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 952421 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|1,2;DP=8;ECNT=1;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,42;MPOS=142;POPAF=7.30;TLOD=10.90 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.787:3:0,1:0,1:0,2:0,0,1,2 -chr1 952567 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=13,15|1,1;DP=31;ECNT=1;GERMQ=91;MBQ=32,30;MFRL=0,0;MMQ=48,53;MPOS=12;POPAF=7.30;TLOD=4.46 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:28,2:0.104:30:3,0:13,1:16,1:13,15,1,1 -chr1 953259 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|2,4;DP=6;ECNT=2;GERMQ=58;MBQ=0,33;MFRL=0,0;MMQ=60,54;MPOS=114;POPAF=7.30;TLOD=17.66 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.855:6:0,2:0,2:0,5:0,0,2,4 -chr1 953279 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|1,4;DP=5;ECNT=2;GERMQ=55;MBQ=0,34;MFRL=0,0;MMQ=60,48;MPOS=108;POPAF=7.30;TLOD=17.30 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.857:5:0,3:0,1:0,5:0,0,1,4 -chr1 953778 . GA CC . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=69;POPAF=7.30;TLOD=8.52 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.750:2:0,1:0,0:0,2:0,0,0,2 -chr1 954258 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|5,6;DP=12;ECNT=2;GERMQ=72;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=40;POPAF=7.30;TLOD=40.72 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,11:0.893:11:0,1:0,5:0,7:0,0,5,6 -chr1 954333 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|9,7;DP=17;ECNT=2;GERMQ=87;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=88;POPAF=7.30;TLOD=56.99 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,16:0.917:16:0,0:0,9:0,10:0,0,9,7 -chr1 954574 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|2,2;DP=4;ECNT=1;GERMQ=52;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=94;POPAF=7.30;TLOD=15.23 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.750:4:0,0:0,2:0,2:0,0,2,2 -chr1 954827 . GA G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|2,1;DP=6;ECNT=1;GERMQ=39;MBQ=0,29;MFRL=0,0;MMQ=60,60;MPOS=29;POPAF=7.30;RPA=11,10;RU=A;STR;STRQ=3;TLOD=6.07 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.764:3:0,0:0,1:0,2:0,0,2,1 -chr1 955384 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=6,7|1,1;DP=17;ECNT=1;GERMQ=55;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=73;POPAF=7.30;TLOD=5.60 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:13,2:0.182:15:0,0:6,1:8,1:6,7,1,1 -chr1 955641 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|4,4;DP=9;ECNT=2;GERMQ=63;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=36;POPAF=7.30;TLOD=25.25 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.841:8:0,0:0,4:0,4:0,0,4,4 -chr1 955679 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1,1|2,1;DP=5;ECNT=2;GERMQ=37;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=28;POPAF=7.30;TLOD=9.92 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,3:0.600:5:0,0:1,2:1,2:1,1,2,1 -chr1 956565 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,2|2,2;DP=6;ECNT=1;GERMQ=36;MBQ=31,33;MFRL=0,0;MMQ=60,60;MPOS=38;POPAF=7.30;TLOD=13.13 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,4:0.572:6:1,1:0,2:2,3:0,2,2,2 -chr1 957365 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|6,6;DP=12;ECNT=1;GERMQ=75;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=82;POPAF=7.30;TLOD=42.72 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,12:0.889:12:0,1:0,6:0,7:0,0,6,6 -chr1 957900 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|5,6;DP=13;ECNT=1;GERMQ=72;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=64;POPAF=7.30;TLOD=39.58 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,11:0.880:11:0,0:0,5:0,6:0,0,5,6 -chr1 958810 . T TG . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5,7|1,1;DP=17;ECNT=1;GERMQ=40;MBQ=33,31;MFRL=0,0;MMQ=60,60;MPOS=95;POPAF=7.30;RPA=6,7;RU=G;STR;STRQ=93;TLOD=4.30 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:12,2:0.192:14:0,0:5,1:7,1:5,7,1,1 -chr1 959193 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|1,2;DP=3;ECNT=1;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=14;POPAF=7.30;TLOD=10.63 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.750:3:0,0:0,1:0,2:0,0,1,2 -chr1 960891 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|1,2;DP=3;ECNT=1;GERMQ=49;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=98;POPAF=7.30;TLOD=10.55 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.750:3:0,1:0,1:0,2:0,0,1,2 -chr1 961096 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|3,4;DP=8;ECNT=1;GERMQ=60;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=87;POPAF=7.30;TLOD=24.13 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,7:0.864:7:0,1:0,3:0,5:0,0,3,4 -chr1 961945 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|11,14;DP=26;ECNT=2;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=81;POPAF=7.30;TLOD=95.02 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,25:0.941:25:0,3:0,11:0,15:0,0,11,14 -chr1 962001 . T A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5,7|1,1;DP=14;ECNT=2;GERMQ=53;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=134;POPAF=7.30;TLOD=5.50 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:12,2:0.200:14:0,0:5,1:7,1:5,7,1,1 -chr1 962184 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|5,3;DP=10;ECNT=1;GERMQ=63;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=27;POPAF=7.30;TLOD=29.35 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.864:8:0,0:0,5:0,5:0,0,5,3 -chr1 962943 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=81;POPAF=7.30;TLOD=7.35 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 964218 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2,1|1,1;DP=5;ECNT=1;GERMQ=38;MBQ=35,30;MFRL=0,0;MMQ=60,60;MPOS=90;POPAF=7.30;TLOD=5.45 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,2:0.400:5:0,0:2,1:2,1:2,1,1,1 -chr1 965125 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=7,6|9,8;DP=30;ECNT=1;GERMQ=34;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=72;POPAF=7.30;TLOD=58.41 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:13,17:0.600:30:0,2:7,9:7,11:7,6,9,8 -chr1 965337 . CTTAT C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4,4|7,8;DP=24;ECNT=2;GERMQ=17;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=63;POPAF=7.30;RPA=2,1;RU=TTAT;STR;STRQ=40;TLOD=63.05 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:8,15:0.625:23:0,0:3,8:5,9:0|1:965337_CTTAT_C:965337:4,4,7,8 -chr1 965350 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|11,11;DP=23;ECNT=2;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=72;POPAF=7.30;TLOD=92.19 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,22:0.937:22:0,0:0,11:0,14:0|1:965337_CTTAT_C:965337:0,0,11,11 -chr1 965592 . T G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|10,11;DP=24;ECNT=4;GERMQ=93;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=22;POPAF=7.30;TLOD=80.81 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,21:0.927:21:0,1:0,10:0,11:0,0,10,11 -chr1 965615 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=10,11|1,1;DP=23;ECNT=4;GERMQ=74;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=119;POPAF=7.30;TLOD=5.36 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:21,2:0.143:23:1,0:10,1:11,1:10,11,1,1 -chr1 965643 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|10,11;DP=21;ECNT=4;GERMQ=93;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=72;POPAF=7.30;TLOD=78.84 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,21:0.923:21:0,1:0,10:0,11:0,0,10,11 -chr1 965666 . ACC A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=6,6|3,4;DP=20;ECNT=4;GERMQ=26;MBQ=32,32;MFRL=0,0;MMQ=60,60;MPOS=83;POPAF=7.30;RPA=4,2;RU=C;STR;STRQ=93;TLOD=28.13 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:12,7:0.416:19:0,0:6,3:6,4:6,6,3,4 -chr1 966179 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=4;ECNT=3;GERMQ=46;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=17;POPAF=7.30;TLOD=3.21 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.684:2:0,0:0,1:0,1:0,0,1,1 -chr1 966227 . C G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|2,2;DP=4;ECNT=3;GERMQ=52;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=69;POPAF=7.30;TLOD=14.43 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.750:4:0,0:0,2:0,2:0,0,2,2 -chr1 966272 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|2,2;DP=4;ECNT=3;GERMQ=52;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=24;POPAF=7.30;TLOD=14.83 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.750:4:0,0:0,2:0,2:0,0,2,2 -chr1 966665 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=2;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=113;POPAF=7.30;TLOD=7.45 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 966770 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1,1|1,1;DP=4;ECNT=2;GERMQ=37;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=124;POPAF=7.30;TLOD=6.66 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.500:4:0,0:1,1:1,1:1,1,1,1 -chr1 967376 . AC A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|3,1;DP=4;ECNT=2;GERMQ=42;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=46;POPAF=7.30;RPA=10,9;RU=C;STR;STRQ=10;TLOD=17.40 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,4:0.800:4:0,0:0,3:0,3:0|1:967376_AC_A:967376:0,0,3,1 -chr1 967384 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|3,1;DP=4;ECNT=2;GERMQ=52;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=53;POPAF=7.30;TLOD=17.40 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,4:0.800:4:0,0:0,3:0,3:0|1:967376_AC_A:967376:0,0,3,1 -chr1 968841 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1,1|1,1;DP=4;ECNT=1;GERMQ=37;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=113;POPAF=7.30;TLOD=6.68 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.500:4:0,0:1,1:1,1:1,1,1,1 -chr1 969377 . A ATG . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|2,3;DP=5;ECNT=1;GERMQ=40;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=52;POPAF=7.30;RPA=3,4;RU=TG;STR;STRQ=93;TLOD=17.13 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.800:5:0,1:0,2:0,3:0,0,2,3 -chr1 969663 . CAT C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=34;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=67;POPAF=7.30;RPA=2,1;RU=AT;STR;STRQ=93;TLOD=8.70 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 970005 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2,0|1,1;DP=4;ECNT=1;GERMQ=37;MBQ=34,29;MFRL=0,0;MMQ=41,60;MPOS=43;POPAF=7.30;TLOD=5.57 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.400:4:0,0:2,1:2,1:2,0,1,1 -chr1 970874 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,1|1,1;DP=3;ECNT=1;GERMQ=38;MBQ=32,29;MFRL=0,0;MMQ=60,60;MPOS=90;POPAF=7.30;TLOD=5.97 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,2:0.500:3:1,0:0,1:1,1:0,1,1,1 -chr1 971513 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1,0|1,1;DP=3;ECNT=1;GERMQ=38;MBQ=32,30;MFRL=0,0;MMQ=60,60;MPOS=3;POPAF=7.30;TLOD=6.18 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,2:0.500:3:0,0:1,1:1,1:1,0,1,1 -chr1 973841 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=1;ECNT=1;GERMQ=44;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=52;POPAF=7.30;TLOD=3.58 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 973929 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1,1|1,1;DP=4;ECNT=1;GERMQ=37;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=115;POPAF=7.30;TLOD=6.98 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.500:4:0,0:1,1:1,1:1,1,1,1 -chr1 974388 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=110;POPAF=7.30;TLOD=7.05 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 975139 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=1;ECNT=1;GERMQ=44;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=67;POPAF=7.30;TLOD=3.25 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 975447 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=4,2|1,2;DP=9;ECNT=3;GERMQ=39;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=136;POPAF=7.30;TLOD=6.28 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,3:0.286:9:0,0:4,1:4,1:4,2,1,2 -chr1 975492 . GCT G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=3,4|1,1;DP=9;ECNT=3;GERMQ=31;MBQ=35,33;MFRL=0,0;MMQ=60,60;MPOS=57;POPAF=7.30;RPA=2,1;RU=CT;STR;STRQ=93;TLOD=7.52 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,2:0.286:9:0,0:3,1:4,1:3,4,1,1 -chr1 975523 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=3,3|3,2;DP=11;ECNT=3;GERMQ=36;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=18;POPAF=7.30;TLOD=16.54 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,5:0.500:11:0,0:3,3:3,3:3,3,3,2 -chr1 976215 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5,7|3,3;DP=20;ECNT=1;GERMQ=40;MBQ=32,34;MFRL=0,0;MMQ=60,60;MPOS=65;POPAF=7.30;TLOD=19.72 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:12,6:0.332:18:1,0:5,3:7,3:5,7,3,3 -chr1 997238 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=94;POPAF=7.30;TLOD=6.98 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.750:2:0,0:0,2:0,2:0,0,2,0 -chr1 997987 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,28;MFRL=0,0;MMQ=60,60;MPOS=94;POPAF=7.30;TLOD=6.25 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 998935 . CA C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1,2|1,1;DP=6;ECNT=2;GERMQ=28;MBQ=34,34;MFRL=0,0;MMQ=60,60;MPOS=113;POPAF=7.30;RPA=3,2;RU=A;STR;STRQ=93;TLOD=5.07 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,2:0.400:5:0,0:2,1:2,1:1,2,1,1 -chr1 999005 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=33,28|28,18;DP=108;ECNT=2;GERMQ=36;MBQ=34,32;MFRL=0,0;MMQ=60,60;MPOS=124;POPAF=7.30;TLOD=151.05 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:61,46:0.460:107:0,0:33,28:33,28:33,28,28,18 -chr1 999577 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=25,28|1,1;DP=55;ECNT=1;GERMQ=93;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=84;POPAF=7.30;TLOD=4.24 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:53,2:0.048:55:13,0:25,1:39,1:25,28,1,1 -chr1 999842 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4,5|18,20;DP=52;ECNT=1;GERMQ=69;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=39;POPAF=7.30;TLOD=126.50 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:9,38:0.818:47:0,2:3,17:5,24:4,5,18,20 -chr1 1000079 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|40,48;DP=90;ECNT=4;GERMQ=93;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=19;POPAF=7.30;TLOD=338.09 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,88:0.981:88:0,8:0,40:0,49:0,0,40,48 -chr1 1000112 . G T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|9,10;DP=29;ECNT=4;GERMQ=93;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=42;POPAF=7.30;TLOD=64.39 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,19:0.929:19:0,0:0,8:0,10:0,0,9,10 -chr1 1000134 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=8,8|1,1;DP=18;ECNT=4;GERMQ=62;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=112;POPAF=7.30;TLOD=5.51 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:16,2:0.167:18:0,0:8,1:9,1:8,8,1,1 -chr1 1000207 . C G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=14,11|1,1;DP=29;ECNT=4;GERMQ=83;MBQ=33,29;MFRL=0,0;MMQ=60,60;MPOS=73;POPAF=7.30;TLOD=4.36 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:25,2:0.116:27:0,0:14,1:14,1:14,11,1,1 -chr1 1000335 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=7,7|8,6;DP=29;ECNT=1;GERMQ=34;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=31;POPAF=7.30;TLOD=45.17 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:14,14:0.500:28:2,1:7,8:9,9:7,7,8,6 -chr1 1000453 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1,1|19,14;DP=37;ECNT=1;GERMQ=93;MBQ=22,32;MFRL=0,0;MMQ=60,60;MPOS=72;POPAF=7.30;TLOD=117.94 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,33:0.918:35:0,2:1,19:1,21:1,1,19,14 -chr1 1000731 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=10,14|13,14;DP=51;ECNT=3;GERMQ=32;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=86;POPAF=7.30;TLOD=86.76 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:24,27:0.500:51:4,1:10,12:14,14:10,14,13,14 -chr1 1000814 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|14,20;DP=34;ECNT=3;GERMQ=93;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=11;POPAF=7.30;TLOD=127.94 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,34:0.957:34:0,1:0,14:0,21:0,0,14,20 -chr1 1000830 . C A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|7,9;DP=18;ECNT=3;GERMQ=87;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=25;POPAF=7.30;TLOD=57.77 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,16:0.919:16:0,0:0,7:0,10:0,0,7,9 -chr1 1001107 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=61;POPAF=7.30;TLOD=7.35 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1002308 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=20;POPAF=7.30;TLOD=7.65 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1009083 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1,1|1,1;DP=4;ECNT=1;GERMQ=37;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=30;POPAF=7.30;TLOD=6.65 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.500:4:0,0:1,1:1,1:1,1,1,1 -chr1 1012158 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|2,3;DP=5;ECNT=1;GERMQ=55;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=53;POPAF=7.30;TLOD=17.15 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.800:5:0,1:0,2:0,3:0,0,2,3 -chr1 1012809 . TT CC . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=99;POPAF=7.30;TLOD=8.70 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1013041 . A AAAC . germline;slippage;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=0,0|0,0;DP=1;ECNT=1;GERMQ=1;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=131;POPAF=7.30;RPA=3,4;RU=AAC;STR;STRQ=1;TLOD=4.19 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 1013312 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|2,1;DP=4;ECNT=1;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=59;POPAF=7.30;TLOD=10.65 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.750:3:0,0:0,2:0,2:0,0,2,1 -chr1 1013466 . T TA . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0,0|3,1;DP=4;ECNT=3;GERMQ=39;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=80;POPAF=7.30;RPA=1,2;RU=A;STR;STRQ=93;TLOD=17.40 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,4:0.800:4:0,0:0,3:0,3:0|1:1013466_T_TA:1013466:0,0,3,1 -chr1 1013490 . C G . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0,0|3,1;DP=4;ECNT=3;GERMQ=52;MBQ=0,30;MFRL=0,0;MMQ=60,60;MPOS=77;POPAF=7.30;TLOD=17.40 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,4:0.800:4:0,0:0,3:0,3:0|1:1013466_T_TA:1013466:0,0,3,1 -chr1 1013541 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|46,3;DP=52;ECNT=3;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=28;POPAF=7.30;TLOD=179.34 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,49:0.980:49:0,0:0,46:0,47:0,0,46,3 -chr1 1013855 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|4,6;DP=12;ECNT=1;GERMQ=69;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=77;POPAF=7.30;TLOD=35.60 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,10:0.880:10:0,1:0,4:0,6:0,0,4,6 -chr1 1014228 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=122,149|32,42;DP=366;ECNT=2;GERMQ=93;MBQ=34,32;MFRL=0,0;MMQ=60,60;MPOS=72;POPAF=7.30;TLOD=216.65 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:271,74:0.243:345:30,16:122,32:161,51:122,149,32,42 -chr1 1014274 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|145,150;DP=303;ECNT=2;GERMQ=93;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=94;POPAF=7.30;TLOD=1139.03 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,295:0.995:295:0,11:0,143:0,180:0,0,145,150 -chr1 1014545 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|3,1;DP=4;ECNT=1;GERMQ=52;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=111;POPAF=7.30;TLOD=13.91 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.800:4:0,0:0,3:0,3:0,0,3,1 -chr1 1014733 . GAAGT G . base_qual;weak_evidence AS_FilterStatus=weak_evidence,base_qual;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=19;MBQ=31,14;MFRL=0,0;MMQ=60,60;MPOS=79;POPAF=7.30;TLOD=3.72 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,1:0.500:2:0,0:0,0:1,1:0,1,0,1 -chr1 1019636 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=50;POPAF=7.30;TLOD=7.45 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1019833 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=115;POPAF=7.30;TLOD=7.48 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.750:2:0,1:0,0:0,2:0,0,0,2 -chr1 1020217 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|19,17;DP=36;ECNT=1;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=42;POPAF=7.30;TLOD=131.67 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,36:0.952:36:0,0:0,19:0,19:0,0,19,17 -chr1 1021740 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|2,4;DP=6;ECNT=1;GERMQ=58;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=97;POPAF=7.30;TLOD=22.18 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.857:6:0,1:0,2:0,5:0,0,2,4 -chr1 1022388 . A T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=15,20|1,1;DP=37;ECNT=1;GERMQ=93;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=136;POPAF=7.30;TLOD=4.79 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:35,2:0.087:37:4,0:15,1:20,1:15,20,1,1 -chr1 1023525 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=1;ECNT=1;GERMQ=44;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=126;POPAF=7.30;TLOD=3.58 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 1026830 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=37;POPAF=7.30;TLOD=7.15 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1031917 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=64;POPAF=7.30;TLOD=7.35 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1035987 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|2,1;DP=3;ECNT=1;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=8;POPAF=7.30;TLOD=10.75 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.750:3:0,0:0,2:0,2:0,0,2,1 -chr1 1036754 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=3;ECNT=1;GERMQ=46;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=47;POPAF=7.30;TLOD=6.78 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.750:2:0,0:0,2:0,2:0,0,2,0 -chr1 1037505 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2,5|1,1;DP=9;ECNT=1;GERMQ=43;MBQ=32,34;MFRL=0,0;MMQ=60,60;MPOS=64;POPAF=7.30;TLOD=6.13 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,2:0.250:9:2,0:2,1:5,1:2,5,1,1 -chr1 1037956 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|3,3;DP=6;ECNT=3;GERMQ=58;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=60;POPAF=7.30;TLOD=22.26 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.800:6:0,0:0,3:0,3:0,0,3,3 -chr1 1037997 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|4,3;DP=7;ECNT=3;GERMQ=60;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=84;POPAF=7.30;TLOD=25.44 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,7:0.833:7:0,0:0,4:0,4:0,0,4,3 -chr1 1038078 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|3,2;DP=5;ECNT=3;GERMQ=55;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=15;POPAF=7.30;TLOD=18.58 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.800:5:0,0:0,3:0,3:0,0,3,2 -chr1 1038288 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|4,1;DP=5;ECNT=1;GERMQ=55;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=52;POPAF=7.30;TLOD=17.21 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.833:5:0,0:0,4:0,4:0,0,4,1 -chr1 1038762 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=4,5|1,1;DP=11;ECNT=6;GERMQ=47;MBQ=33,31;MFRL=0,0;MMQ=60,60;MPOS=137;POPAF=7.30;TLOD=5.43 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:9,2:0.250:11:1,0:4,1:5,1:4,5,1,1 -chr1 1038800 . G T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|4,4;DP=9;ECNT=6;GERMQ=63;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=53;POPAF=7.30;TLOD=28.38 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.841:8:0,0:0,4:0,4:0,0,4,4 -chr1 1038819 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|4,4;DP=8;ECNT=6;GERMQ=63;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=72;POPAF=7.30;TLOD=28.42 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.833:8:0,0:0,4:0,4:0,0,4,4 -chr1 1038845 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|3,3;DP=6;ECNT=6;GERMQ=58;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=87;POPAF=7.30;TLOD=22.53 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.800:6:0,0:0,3:0,3:0,0,3,3 -chr1 1038916 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=6;GERMQ=46;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=76;POPAF=7.30;TLOD=7.12 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1038975 . GT AC . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=1;ECNT=6;GERMQ=44;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=39;POPAF=7.30;TLOD=4.20 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 1039114 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|2,3;DP=5;ECNT=2;GERMQ=55;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=69;POPAF=7.30;TLOD=17.78 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.800:5:0,1:0,2:0,3:0,0,2,3 -chr1 1039190 . T G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=2;GERMQ=44;MBQ=0,29;MFRL=0,0;MMQ=60,60;MPOS=145;POPAF=7.30;TLOD=3.01 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.684:1:0,0:0,0:0,1:0,0,0,1 -chr1 1039411 . T TG,TGG . PASS AS_FilterStatus=SITE|SITE;AS_SB_TABLE=0,0|2,2|2,2;DP=8;ECNT=1;GERMQ=22;MBQ=0,30,32;MFRL=0,0,0;MMQ=60,60,60;MPOS=55,84;POPAF=7.30,7.30;RPA=8,9,10;RU=G;STR;STRQ=7;TLOD=10.10,10.18 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1/2:0,4,4:0.429,0.429:8:0,0,0:0,2,2:0,2,2:0,0,4,4 -chr1 1039514 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=40;POPAF=7.30;TLOD=7.15 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1039753 . T A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|1,2;DP=3;ECNT=1;GERMQ=49;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=113;POPAF=7.30;TLOD=8.40 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.750:3:0,0:0,1:0,2:0,0,1,2 -chr1 1040322 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=101;POPAF=7.30;TLOD=7.45 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1041586 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=12,13|1,1;DP=27;ECNT=1;GERMQ=83;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=99;POPAF=7.30;TLOD=5.02 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:25,2:0.111:27:2,0:12,1:15,1:12,13,1,1 -chr1 1041950 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=36;POPAF=7.30;TLOD=6.85 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1042190 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=85;POPAF=7.30;TLOD=7.25 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1042400 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=1;ECNT=1;GERMQ=44;MBQ=0,29;MFRL=0,0;MMQ=60,60;MPOS=20;POPAF=7.30;TLOD=3.08 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 1042767 . AG A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4,2|2,1;DP=9;ECNT=1;GERMQ=29;MBQ=31,33;MFRL=0,0;MMQ=60,60;MPOS=45;POPAF=7.30;RPA=7,6;RU=G;STR;STRQ=93;TLOD=7.33 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,3:0.375:9:0,0:4,2:4,2:4,2,2,1 -chr1 1043295 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=7,7|1,1;DP=16;ECNT=1;GERMQ=57;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=70;POPAF=7.30;TLOD=5.42 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:14,2:0.168:16:2,0:6,1:9,1:7,7,1,1 -chr1 1043611 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=11,9|1,1;DP=22;ECNT=1;GERMQ=71;MBQ=35,31;MFRL=0,0;MMQ=60,60;MPOS=35;POPAF=7.30;TLOD=4.96 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:20,2:0.143:22:0,0:11,1:11,1:11,9,1,1 -chr1 1044368 . A T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,23;MFRL=0,0;MMQ=60,60;MPOS=12;POPAF=7.30;TLOD=4.03 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,0:0,1:0,0,1,1 -chr1 1045080 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=1;ECNT=1;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=43;POPAF=7.30;TLOD=3.48 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 1045707 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=17;POPAF=7.30;TLOD=7.35 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1046488 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=10,14|1,1;DP=26;ECNT=2;GERMQ=81;MBQ=32,31;MFRL=0,0;MMQ=60,60;MPOS=64;POPAF=7.30;TLOD=4.77 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:24,2:0.118:26:3,0:10,1:14,1:10,14,1,1 -chr1 1046551 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|3,4;DP=12;ECNT=2;GERMQ=60;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=127;POPAF=7.30;TLOD=24.93 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,7:0.876:7:0,0:0,3:0,5:0,0,3,4 -chr1 1047064 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|5,6;DP=11;ECNT=3;GERMQ=72;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=86;POPAF=7.30;TLOD=40.34 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,11:0.888:11:0,1:0,5:0,7:0,0,5,6 -chr1 1047082 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|2,4;DP=10;ECNT=3;GERMQ=58;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=104;POPAF=7.30;TLOD=18.91 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.867:6:0,1:0,2:0,5:0,0,2,4 -chr1 1047133 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|2,2;DP=4;ECNT=3;GERMQ=52;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=52;POPAF=7.30;TLOD=14.61 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.800:4:0,1:0,2:0,3:0,0,2,2 -chr1 1047233 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=3,3|1,1;DP=8;ECNT=1;GERMQ=42;MBQ=32,34;MFRL=0,0;MMQ=60,60;MPOS=57;POPAF=7.30;TLOD=6.18 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,2:0.286:8:0,0:3,1:4,1:3,3,1,1 -chr1 1047614 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=25;POPAF=7.30;TLOD=7.45 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1048096 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=22,16|1,1;DP=43;ECNT=1;GERMQ=93;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=47;POPAF=7.30;TLOD=4.70 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:38,2:0.079:40:0,0:22,1:22,1:22,16,1,1 -chr1 1048912 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=7,7|1,1;DP=16;ECNT=1;GERMQ=57;MBQ=35,33;MFRL=0,0;MMQ=60,60;MPOS=53;POPAF=7.30;TLOD=5.41 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:14,2:0.167:16:2,0:7,1:9,1:7,7,1,1 -chr1 1052857 . ATG A . slippage AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=34;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=71;POPAF=7.30;RPA=4,3;RU=TG;STR;STRQ=1;TLOD=7.99 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1054866 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=6,4|1,1;DP=12;ECNT=1;GERMQ=49;MBQ=35,33;MFRL=0,0;MMQ=60,60;MPOS=55;POPAF=7.30;TLOD=5.81 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:10,2:0.222:12:0,0:6,1:6,1:6,4,1,1 -chr1 1055000 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|15,16;DP=33;ECNT=3;GERMQ=93;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=60;POPAF=7.30;TLOD=113.32 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,31:0.948:31:0,1:0,15:0,17:0,0,15,16 -chr1 1055037 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|13,13;DP=30;ECNT=3;GERMQ=93;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=88;POPAF=7.30;TLOD=92.44 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,26:0.944:26:0,1:0,12:0,15:0,0,13,13 -chr1 1055137 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|19,14;DP=34;ECNT=3;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=54;POPAF=7.30;TLOD=114.95 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,33:0.955:33:0,0:0,18:0,20:0,0,19,14 -chr1 1055393 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|13,17;DP=31;ECNT=2;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=79;POPAF=7.30;TLOD=102.54 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,30:0.951:30:0,5:0,10:0,18:0,0,13,17 -chr1 1055426 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|12,12;DP=28;ECNT=2;GERMQ=93;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=103;POPAF=7.30;TLOD=85.82 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,24:0.943:24:0,2:0,12:0,14:0,0,12,12 -chr1 1055604 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|29,32;DP=65;ECNT=1;GERMQ=93;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=73;POPAF=7.30;TLOD=216.66 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,61:0.974:61:0,3:0,29:0,36:0,0,29,32 -chr1 1055959 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=17,27|1,1;DP=47;ECNT=1;GERMQ=93;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=32;POPAF=7.30;TLOD=4.51 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:44,2:0.065:46:10,0:17,1:28,1:17,27,1,1 -chr1 1063121 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1,1|3,0;DP=5;ECNT=1;GERMQ=37;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=33;POPAF=7.30;TLOD=9.83 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,3:0.667:5:0,0:1,3:1,3:1,1,3,0 -chr1 1065797 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=53,37|4,2;DP=97;ECNT=1;GERMQ=93;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=69;POPAF=7.30;TLOD=15.30 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:90,6:0.085:96:0,0:51,4:53,4:53,37,4,2 -chr1 1065963 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=15,18|1,1;DP=37;ECNT=1;GERMQ=93;MBQ=32,32;MFRL=0,0;MMQ=60,60;MPOS=6;POPAF=7.30;TLOD=4.60 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:33,2:0.079:35:6,0:15,1:22,1:15,18,1,1 -chr1 1066087 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=19,15|1,1;DP=36;ECNT=4;GERMQ=93;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=102;POPAF=7.30;TLOD=4.74 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:34,2:0.083:36:1,0:19,1:21,1:19,15,1,1 -chr1 1066088 . A C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=19,15|1,1;DP=36;ECNT=4;GERMQ=93;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=96;POPAF=7.30;TLOD=4.41 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:34,2:0.083:36:1,0:19,1:21,1:19,15,1,1 -chr1 1066174 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=16,18|1,1;DP=37;ECNT=4;GERMQ=93;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=25;POPAF=7.30;TLOD=4.89 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:34,2:0.087:36:0,0:16,1:20,1:16,18,1,1 -chr1 1066230 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=16,20|1,1;DP=38;ECNT=4;GERMQ=93;MBQ=33,30;MFRL=0,0;MMQ=60,56;MPOS=62;POPAF=7.30;TLOD=4.25 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:36,2:0.083:38:0,0:16,1:21,1:16,20,1,1 -chr1 1066505 . TG T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=6,5|1,1;DP=13;ECNT=1;GERMQ=41;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=58;POPAF=7.30;RPA=5,4;RU=G;STR;STRQ=93;TLOD=4.58 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:11,2:0.182:13:0,0:5,1:8,1:6,5,1,1 -chr1 1066726 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5,6|1,1;DP=13;ECNT=1;GERMQ=51;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=76;POPAF=7.30;TLOD=5.71 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:11,2:0.222:13:1,0:5,1:6,1:5,6,1,1 -chr1 1067007 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=15,16|2,2;DP=36;ECNT=3;GERMQ=85;MBQ=32,31;MFRL=0,0;MMQ=60,60;MPOS=14;POPAF=7.30;TLOD=10.87 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:31,4:0.143:35:1,0:14,2:17,2:15,16,2,2 -chr1 1067159 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=11,9|2,1;DP=24;ECNT=3;GERMQ=65;MBQ=34,32;MFRL=0,0;MMQ=60,60;MPOS=79;POPAF=7.30;TLOD=7.99 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:20,3:0.200:23:0,0:11,2:11,2:11,9,2,1 -chr1 1067173 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=10,10|1,1;DP=23;ECNT=3;GERMQ=71;MBQ=32,34;MFRL=0,0;MMQ=60,60;MPOS=37;POPAF=7.30;TLOD=5.39 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:20,2:0.133:22:0,0:9,1:12,1:10,10,1,1 -chr1 1068165 . G T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=4,3|1,1;DP=9;ECNT=3;GERMQ=43;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=94;POPAF=7.30;TLOD=5.83 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,2:0.250:9:1,0:4,1:5,1:4,3,1,1 -chr1 1068198 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=7,8|1,1;DP=18;ECNT=3;GERMQ=59;MBQ=33,31;MFRL=0,0;MMQ=60,60;MPOS=98;POPAF=7.30;TLOD=5.18 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:15,2:0.179:17:1,0:7,1:8,1:7,8,1,1 -chr1 1068249 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=7,7|2,2;DP=18;ECNT=3;GERMQ=48;MBQ=34,32;MFRL=0,0;MMQ=60,60;MPOS=55;POPAF=7.30;TLOD=12.05 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:14,4:0.273:18:0,0:7,2:7,2:7,7,2,2 -chr1 1068591 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=28,29|2,2;DP=63;ECNT=5;GERMQ=93;MBQ=32,35;MFRL=0,0;MMQ=60,60;MPOS=114;POPAF=7.30;TLOD=11.26 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:57,4:0.075:61:8,0:27,2:36,2:28,29,2,2 -chr1 1068604 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=30,33|1,1;DP=67;ECNT=5;GERMQ=93;MBQ=32,34;MFRL=0,0;MMQ=60,53;MPOS=86;POPAF=7.30;TLOD=4.47 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:63,2:0.049:65:7,0:30,1:37,1:30,33,1,1 -chr1 1068628 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=28,36|1,2;DP=69;ECNT=5;GERMQ=93;MBQ=33,32;MFRL=0,0;MMQ=60,59;MPOS=116;POPAF=7.30;TLOD=6.45 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:64,3:0.073:67:4,0:27,1:37,2:28,36,1,2 -chr1 1068664 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=26,35|3,4;DP=68;ECNT=5;GERMQ=93;MBQ=32,33;MFRL=0,0;MMQ=60,59;MPOS=50;POPAF=7.30;TLOD=20.02 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:61,7:0.122:68:4,0:25,3:35,4:26,35,3,4 -chr1 1068727 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=4,15|1,2;DP=25;ECNT=5;GERMQ=63;MBQ=32,34;MFRL=0,0;MMQ=60,59;MPOS=17;POPAF=7.30;TLOD=8.12 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:19,3:0.156:22:0,0:4,1:15,2:4,15,1,2 -chr1 1068905 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=11,11|1,1;DP=26;ECNT=2;GERMQ=76;MBQ=35,31;MFRL=0,0;MMQ=60,60;MPOS=107;POPAF=7.30;TLOD=4.95 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:22,2:0.141:24:0,0:9,1:11,1:11,11,1,1 -chr1 1068951 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|5,7;DP=12;ECNT=2;GERMQ=75;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=61;POPAF=7.30;TLOD=41.40 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,12:0.888:12:0,0:0,5:0,7:0,0,5,7 -chr1 1069761 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2,1|1,1;DP=5;ECNT=1;GERMQ=38;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=141;POPAF=7.30;TLOD=3.82 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,2:0.400:5:0,0:2,1:2,1:2,1,1,1 -chr1 1071610 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=9,10|10,9;DP=39;ECNT=1;GERMQ=33;MBQ=32,32;MFRL=0,0;MMQ=60,60;MPOS=101;POPAF=7.30;TLOD=62.27 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:19,19:0.538:38:1,2:9,10:11,13:9,10,10,9 -chr1 1071750 . GC G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=4,8|1,2;DP=15;ECNT=4;GERMQ=39;MBQ=35,35;MFRL=0,0;MMQ=60,60;MPOS=98;POPAF=7.30;RPA=6,5;RU=C;STR;STRQ=93;TLOD=6.74 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:12,3:0.231:15:0,0:3,1:9,2:4,8,1,2 -chr1 1071823 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=2,4|2,2;DP=10;ECNT=4;GERMQ=37;MBQ=31,34;MFRL=0,0;MMQ=60,60;MPOS=16;POPAF=7.30;TLOD=13.09 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,4:0.375:10:0,0:2,2:4,2:2,4,2,2 -chr1 1071842 . G T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=2,2|1,1;DP=6;ECNT=4;GERMQ=39;MBQ=31,33;MFRL=0,0;MMQ=60,60;MPOS=21;POPAF=7.30;TLOD=6.15 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,2:0.333:6:0,0:2,1:3,1:2,2,1,1 -chr1 1071872 . C CG . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|2,1;DP=4;ECNT=4;GERMQ=36;MBQ=0,29;MFRL=0,0;MMQ=60,60;MPOS=62;POPAF=7.30;RPA=7,8;RU=G;STR;STRQ=93;TLOD=7.20 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.764:3:0,0:0,2:0,2:0,0,2,1 -chr1 1072067 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=6,7|1,1;DP=16;ECNT=1;GERMQ=55;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=15;POPAF=7.30;TLOD=5.50 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:13,2:0.182:15:1,0:6,1:8,1:6,7,1,1 -chr1 1074098 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2,1|2,3;DP=11;ECNT=1;GERMQ=36;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=74;POPAF=7.30;TLOD=17.05 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,5:0.574:8:0,1:2,2:2,3:2,1,2,3 -chr1 1074738 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=1;ECNT=1;GERMQ=44;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=21;POPAF=7.30;TLOD=3.38 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 1074879 . G A . haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=1;ECNT=2;GERMQ=44;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=34;POPAF=7.30;TLOD=4.20 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,1:0,0:0,1:0|1:1074879_G_A:1074879:0,0,0,1 -chr1 1074893 . A C . base_qual;haplotype AS_FilterStatus=base_qual;AS_SB_TABLE=0,0|0,0;DP=1;ECNT=2;GERMQ=44;MBQ=0,13;MFRL=0,0;MMQ=60,60;MPOS=48;POPAF=7.30;TLOD=4.20 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,0:0,0:0,1:0|1:1074879_G_A:1074879:0,0,0,1 -chr1 1080336 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=122;POPAF=7.30;TLOD=3.48 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 1080437 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=3;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=35;POPAF=7.30;TLOD=7.08 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.684:2:0,0:0,1:0,1:0,0,1,1 -chr1 1081649 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=108;POPAF=7.30;TLOD=7.02 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1081961 . G T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=6,6|7,3;DP=22;ECNT=1;GERMQ=35;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=86;POPAF=7.30;TLOD=28.93 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:12,10:0.500:22:1,0:6,7:7,7:6,6,7,3 -chr1 1082207 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=6,10|4,4;DP=26;ECNT=1;GERMQ=41;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=32;POPAF=7.30;TLOD=25.52 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:16,8:0.352:24:4,1:6,4:10,5:6,10,4,4 -chr1 1082609 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=17,16|1,1;DP=35;ECNT=1;GERMQ=93;MBQ=32,34;MFRL=0,0;MMQ=60,60;MPOS=68;POPAF=7.30;TLOD=4.99 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:33,2:0.087:35:3,0:17,1:20,1:17,16,1,1 -chr1 1083362 . T G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=1;ECNT=1;GERMQ=44;MBQ=0,29;MFRL=0,0;MMQ=60,60;MPOS=140;POPAF=7.30;TLOD=3.08 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 1085543 . A AG . weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=26;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=40;POPAF=7.30;TLOD=3.26 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,1:0.500:2:1,0:0,0:1,1:0,1,0,1 -chr1 1085966 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2,2|2,2;DP=8;ECNT=1;GERMQ=36;MBQ=34,34;MFRL=0,0;MMQ=60,60;MPOS=46;POPAF=7.30;TLOD=13.83 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:4,4:0.500:8:0,0:2,2:2,2:2,2,2,2 -chr1 1090943 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1,2|1,1;DP=6;ECNT=1;GERMQ=38;MBQ=25,34;MFRL=0,0;MMQ=60,60;MPOS=75;POPAF=7.30;TLOD=6.67 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:3,2:0.400:5:0,0:1,1:2,1:1,2,1,1 -chr1 1091421 . T A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=104;POPAF=7.30;TLOD=7.15 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1094198 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|3,2;DP=5;ECNT=1;GERMQ=55;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=100;POPAF=7.30;TLOD=17.48 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,5:0.800:5:0,0:0,3:0,3:0,0,3,2 -chr1 1095185 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4,3|1,1;DP=9;ECNT=2;GERMQ=43;MBQ=31,32;MFRL=0,0;MMQ=60,60;MPOS=9;POPAF=7.30;TLOD=5.78 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,2:0.286:9:0,0:4,1:4,1:4,3,1,1 -chr1 1095242 . C CA . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1,1|0,2;DP=5;ECNT=2;GERMQ=25;MBQ=31,33;MFRL=0,0;MMQ=60,60;MPOS=59;POPAF=7.30;RPA=6,7;RU=A;STR;STRQ=93;TLOD=5.14 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.600:4:0,0:1,1:1,2:1,1,0,2 -chr1 1096160 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|4,2;DP=6;ECNT=1;GERMQ=58;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=60;POPAF=7.30;TLOD=22.56 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.833:6:0,0:0,4:0,4:0,0,4,2 -chr1 1096593 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1,1|1,1;DP=4;ECNT=1;GERMQ=37;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=65;POPAF=7.30;TLOD=6.78 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.500:4:0,0:1,1:1,1:1,1,1,1 -chr1 1096804 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=96;POPAF=7.30;TLOD=7.15 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1096900 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=1;ECNT=1;GERMQ=44;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=15;POPAF=7.30;TLOD=3.58 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 1097893 . C CT . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=33;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=78;POPAF=7.30;RPA=6,7;RU=T;STR;STRQ=93;TLOD=5.92 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1098619 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=37;POPAF=7.30;TLOD=6.95 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1104818 . GAA G . weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=34;MBQ=0,30;MFRL=0,0;MMQ=60,60;MPOS=113;POPAF=7.30;RPA=11,9;RU=A;STR;STRQ=93;TLOD=3.56 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1110470 . AA CG . base_qual;clustered_events;haplotype AS_FilterStatus=base_qual;AS_SB_TABLE=1,2|1,0;DP=4;ECNT=3;GERMQ=40;MBQ=34,12;MFRL=0,0;MMQ=60,60;MPOS=138;POPAF=7.30;TLOD=3.42 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:3,1:0.400:4:1,0:1,0:2,1:0|1:1110470_AA_CG:1110470:1,2,1,0 -chr1 1110480 . A T . base_qual;clustered_events;haplotype AS_FilterStatus=base_qual;AS_SB_TABLE=1,2|1,0;DP=4;ECNT=3;GERMQ=40;MBQ=34,14;MFRL=0,0;MMQ=60,60;MPOS=128;POPAF=7.30;TLOD=3.42 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:3,1:0.400:4:1,0:1,0:2,1:0|1:1110470_AA_CG:1110470:1,2,1,0 -chr1 1110490 . T A . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=1,2|1,0;DP=5;ECNT=3;GERMQ=40;MBQ=33,24;MFRL=0,0;MMQ=60,60;MPOS=118;POPAF=7.30;TLOD=3.38 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:3,1:0.396:4:1,0:1,1:2,1:0|1:1110470_AA_CG:1110470:1,2,1,0 -chr1 1110673 . T C . base_qual AS_FilterStatus=base_qual;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,19;MFRL=0,0;MMQ=60,60;MPOS=8;POPAF=7.30;TLOD=3.53 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1112230 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1,1|1,1;DP=4;ECNT=1;GERMQ=37;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=16;POPAF=7.30;TLOD=6.78 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.500:4:0,0:1,1:1,1:1,1,1,1 -chr1 1112351 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|1,2;DP=3;ECNT=2;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=39;POPAF=7.30;TLOD=10.75 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.750:3:0,0:0,1:0,2:0,0,1,2 -chr1 1112385 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=2;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=7;POPAF=7.30;TLOD=7.15 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1112865 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=3,2|1,1;DP=8;ECNT=4;GERMQ=40;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=115;POPAF=7.30;TLOD=6.02 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:5,2:0.334:7:0,0:3,1:3,1:3,2,1,1 -chr1 1112892 . T C . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=5,5|1,1;DP=12;ECNT=4;GERMQ=49;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=88;POPAF=7.30;TLOD=6.43 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:10,2:0.250:12:0,0:5,1:5,1:0|1:1112892_T_C:1112892:5,5,1,1 -chr1 1112897 . T C . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=5,5|1,1;DP=12;ECNT=4;GERMQ=49;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=83;POPAF=7.30;TLOD=6.43 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:10,2:0.250:12:0,0:5,1:5,1:0|1:1112892_T_C:1112892:5,5,1,1 -chr1 1112951 . TT CC . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=3,3|3,3;DP=12;ECNT=4;GERMQ=35;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=50;POPAF=7.30;TLOD=23.90 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,6:0.500:12:0,0:3,3:3,3:3,3,3,3 -chr1 1113318 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=6,4|4,4;DP=19;ECNT=2;GERMQ=35;MBQ=32,34;MFRL=0,0;MMQ=60,60;MPOS=84;POPAF=7.30;TLOD=27.87 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:10,8:0.500:18:0,0:5,4:5,5:0|1:1113318_T_C:1113318:6,4,4,4 -chr1 1113322 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=9,8|1,1;DP=19;ECNT=2;GERMQ=64;MBQ=32,33;MFRL=0,0;MMQ=60,60;MPOS=47;POPAF=7.30;TLOD=5.41 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:17,2:0.167:19:0,0:9,1:9,1:0|1:1113318_T_C:1113318:9,8,1,1 -chr1 1113490 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2,3|1,1;DP=7;ECNT=2;GERMQ=40;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=110;POPAF=7.30;TLOD=6.15 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:5,2:0.333:7:1,0:2,1:3,1:2,3,1,1 -chr1 1113525 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2,4|1,1;DP=8;ECNT=2;GERMQ=42;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=137;POPAF=7.30;TLOD=5.98 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,2:0.286:8:1,0:2,1:4,1:2,4,1,1 -chr1 1114590 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5,5|1,1;DP=12;ECNT=1;GERMQ=49;MBQ=32,32;MFRL=0,0;MMQ=60,60;MPOS=30;POPAF=7.30;TLOD=5.73 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:10,2:0.250:12:0,0:4,1:5,1:5,5,1,1 -chr1 1114927 . CG C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=3;ECNT=1;GERMQ=37;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=53;POPAF=7.30;RPA=3,2;RU=G;STR;STRQ=93;TLOD=6.77 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.684:2:0,0:0,1:0,1:0,0,1,1 -chr1 1130087 . T A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=67;POPAF=7.30;TLOD=6.85 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1143811 . T C . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=1;ECNT=3;GERMQ=44;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=73;POPAF=7.30;TLOD=4.20 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,1:0,0:0,1:0|1:1143811_T_C:1143811:0,0,0,1 -chr1 1143818 . T C . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=1;ECNT=3;GERMQ=44;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=66;POPAF=7.30;TLOD=4.20 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,1:0.667:1:0,1:0,0:0,1:0|1:1143811_T_C:1143811:0,0,0,1 -chr1 1143881 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=1;ECNT=3;GERMQ=44;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=3;POPAF=7.30;TLOD=3.27 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 1153882 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=101;POPAF=7.30;TLOD=7.55 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1158233 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,22;MFRL=0,0;MMQ=60,60;MPOS=104;POPAF=7.30;TLOD=4.03 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1158404 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1,1|1,1;DP=4;ECNT=1;GERMQ=37;MBQ=32,31;MFRL=0,0;MMQ=60,60;MPOS=97;POPAF=7.30;TLOD=6.38 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.500:4:0,0:1,1:1,1:1,1,1,1 -chr1 1160239 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|2,2;DP=4;ECNT=1;GERMQ=52;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=92;POPAF=7.30;TLOD=13.85 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.750:4:0,0:0,2:0,2:0,0,2,2 -chr1 1160818 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1,1|1,1;DP=4;ECNT=1;GERMQ=37;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=29;POPAF=7.30;TLOD=6.68 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,2:0.500:4:0,0:1,1:1,1:1,1,1,1 -chr1 1161528 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=1;ECNT=1;GERMQ=44;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=41;POPAF=7.30;TLOD=3.58 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 1161720 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|2,1;DP=3;ECNT=1;GERMQ=49;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=108;POPAF=7.30;TLOD=8.04 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.744:3:0,0:0,1:0,2:0,0,2,1 -chr1 1161907 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|1,2;DP=3;ECNT=2;GERMQ=49;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=40;POPAF=7.30;TLOD=10.65 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.750:3:0,1:0,1:0,2:0,0,1,2 -chr1 1161955 . T G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=1;ECNT=2;GERMQ=44;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=3;POPAF=7.30;TLOD=3.28 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 1162557 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=1;ECNT=1;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=53;POPAF=7.30;TLOD=3.48 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,1:0,0:0,1:0,0,0,1 -chr1 1162886 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=1,1|5,4;DP=11;ECNT=3;GERMQ=42;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=59;POPAF=7.30;TLOD=31.57 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,9:0.750:11:0,0:1,5:1,5:1,1,5,4 -chr1 1162960 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=11,9|1,1;DP=22;ECNT=3;GERMQ=71;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=90;POPAF=7.30;TLOD=5.23 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:20,2:0.125:22:0,0:11,1:13,1:11,9,1,1 -chr1 1163041 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|21,20;DP=44;ECNT=3;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=48;POPAF=7.30;TLOD=146.18 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,41:0.961:41:0,0:0,21:0,23:0,0,21,20 -chr1 1163178 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4,4|1,1;DP=11;ECNT=1;GERMQ=45;MBQ=34,32;MFRL=0,0;MMQ=60,60;MPOS=125;POPAF=7.30;TLOD=5.70 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:8,2:0.246:10:0,0:4,1:5,1:4,4,1,1 -chr1 1163440 . TCC T,TC . PASS AS_FilterStatus=SITE|SITE;AS_SB_TABLE=0,0|2,2|2,1;DP=8;ECNT=1;GERMQ=24;MBQ=0,34,33;MFRL=0,0,0;MMQ=60,60,60;MPOS=40,12;POPAF=7.30,7.30;RPA=9,7,8;RU=C;STR;STRQ=93;TLOD=10.68,7.41 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1/2:0,4,3:0.375,0.500:7:0,0,0:0,2,3:0,2,3:0,0,4,3 -chr1 1163531 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=12,5|1,1;DP=19;ECNT=1;GERMQ=64;MBQ=35,33;MFRL=0,0;MMQ=60,60;MPOS=47;POPAF=7.30;TLOD=5.20 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:17,2:0.134:19:0,0:11,1:12,1:12,5,1,1 -chr1 1163718 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=8,12|1,1;DP=22;ECNT=1;GERMQ=71;MBQ=33,34;MFRL=0,0;MMQ=60,60;MPOS=131;POPAF=7.30;TLOD=5.38 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:20,2:0.118:22:4,0:8,1:14,1:8,12,1,1 -chr1 1163962 . A C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|7,9;DP=21;ECNT=1;GERMQ=87;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=64;POPAF=7.30;TLOD=55.50 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,16:0.925:16:0,3:0,7:0,10:0,0,7,9 -chr1 1164679 . G C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=9,9|1,1;DP=20;ECNT=1;GERMQ=66;MBQ=34,34;MFRL=0,0;MMQ=60,60;MPOS=40;POPAF=7.30;TLOD=5.63 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:18,2:0.154:20:1,0:9,1:10,1:9,9,1,1 -chr1 1164837 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|10,10;DP=22;ECNT=2;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=81;POPAF=7.30;TLOD=70.36 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,20:0.930:20:0,1:0,10:0,12:0,0,10,10 -chr1 1164939 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1,0|4,4;DP=10;ECNT=2;GERMQ=48;MBQ=29,33;MFRL=0,0;MMQ=60,60;MPOS=71;POPAF=7.30;TLOD=25.29 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,8:0.875:9:0,0:0,5:0,6:1,0,4,4 -chr1 1165623 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|11,10;DP=21;ECNT=2;GERMQ=93;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=66;POPAF=7.30;TLOD=77.06 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,21:0.933:21:0,1:0,11:0,13:0,0,11,10 -chr1 1165685 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=8,12|1,1;DP=23;ECNT=2;GERMQ=71;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=71;POPAF=7.30;TLOD=5.07 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:20,2:0.118:22:2,0:8,1:14,1:8,12,1,1 -chr1 1165943 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=5,5|3,4;DP=17;ECNT=1;GERMQ=37;MBQ=34,33;MFRL=0,0;MMQ=60,60;MPOS=88;POPAF=7.30;TLOD=23.39 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:10,7:0.500:17:0,2:5,3:5,5:5,5,3,4 -chr1 1166689 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|6,5;DP=11;ECNT=1;GERMQ=72;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=89;POPAF=7.30;TLOD=40.00 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,11:0.875:11:0,0:0,6:0,6:0,0,6,5 -chr1 1167682 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4,4|1,1;DP=10;ECNT=2;GERMQ=45;MBQ=33,31;MFRL=0,0;MMQ=60,60;MPOS=58;POPAF=7.30;TLOD=5.68 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:8,2:0.286:10:0,0:4,1:4,1:4,4,1,1 -chr1 1167762 . C G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=4,4|1,1;DP=10;ECNT=2;GERMQ=45;MBQ=35,35;MFRL=0,0;MMQ=60,60;MPOS=13;POPAF=7.30;TLOD=6.48 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:8,2:0.286:10:0,0:4,1:4,1:4,4,1,1 -chr1 1168162 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=3;ECNT=1;GERMQ=46;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=22;POPAF=7.30;TLOD=7.18 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.684:2:0,0:0,1:0,1:0,0,1,1 -chr1 1168310 . T TCA . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1,0|5,3;DP=10;ECNT=1;GERMQ=34;MBQ=15,33;MFRL=0,0;MMQ=60,60;MPOS=61;POPAF=7.30;TLOD=34.10 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,8:0.880:9:0,0:0,4:0,6:1,0,5,3 -chr1 1168578 . T G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|8,5;DP=13;ECNT=2;GERMQ=78;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=98;POPAF=7.30;TLOD=47.14 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,13:0.900:13:0,0:0,8:0,8:0,0,8,5 -chr1 1168643 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2,5|1,1;DP=11;ECNT=2;GERMQ=43;MBQ=35,33;MFRL=0,0;MMQ=60,60;MPOS=100;POPAF=7.30;TLOD=5.80 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,2:0.246:9:0,0:2,1:5,1:2,5,1,1 -chr1 1169204 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=46;MBQ=0,34;MFRL=0,0;MMQ=60,60;MPOS=36;POPAF=7.30;TLOD=7.35 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr1 1169591 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,1|3,2;DP=6;ECNT=1;GERMQ=41;MBQ=29,31;MFRL=0,0;MMQ=60,60;MPOS=109;POPAF=7.30;TLOD=16.48 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,5:0.667:6:0,0:0,3:1,3:0,1,3,2 -chr1 1169858 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|1,2;DP=3;ECNT=1;GERMQ=49;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=123;POPAF=7.30;TLOD=10.75 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.750:3:0,1:0,1:0,2:0,0,1,2 -chr1 1205607 . C A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=1;GERMQ=44;MBQ=0,31;MFRL=0,0;MMQ=60,60;MPOS=95;POPAF=7.30;TLOD=3.28 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,1:0.667:1:0,0:0,1:0,1:0,0,1,0 -chr1 1217674 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=10,19|1,1;DP=31;ECNT=1;GERMQ=93;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=28;POPAF=7.30;TLOD=4.74 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:29,2:0.074:31:7,0:10,1:24,1:10,19,1,1 -chr1 1218523 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=28,29|1,1;DP=61;ECNT=1;GERMQ=93;MBQ=32,34;MFRL=0,0;MMQ=60,60;MPOS=79;POPAF=7.30;TLOD=4.60 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:57,2:0.057:59:4,0:28,1:32,1:28,29,1,1 -chr1 1221034 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=2,4|1,1;DP=8;ECNT=1;GERMQ=42;MBQ=34,34;MFRL=0,0;MMQ=60,60;MPOS=75;POPAF=7.30;TLOD=6.18 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:6,2:0.286:8:1,0:2,1:4,1:2,4,1,1 -chr1 1221498 . T C . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,2|2,2;DP=6;ECNT=1;GERMQ=36;MBQ=32,35;MFRL=0,0;MMQ=60,60;MPOS=91;POPAF=7.30;TLOD=13.93 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,4:0.500:6:1,0:0,2:2,2:0,2,2,2 -chr1 1223251 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=1,1|6,8;DP=26;ECNT=1;GERMQ=53;MBQ=31,33;MFRL=0,0;MMQ=60,60;MPOS=70;POPAF=7.30;TLOD=48.36 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:2,14:0.842:16:0,3:1,6:1,9:1,1,6,8 -chr1 1223932 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=14,9|1,1;DP=25;ECNT=1;GERMQ=78;MBQ=33,31;MFRL=0,0;MMQ=60,60;MPOS=48;POPAF=7.30;TLOD=4.67 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:23,2:0.105:25:2,0:14,1:16,1:14,9,1,1 -chr1 1224137 . T C . position AS_FilterStatus=position;AS_SB_TABLE=0,0|2,1;DP=3;ECNT=1;GERMQ=49;MBQ=0,35;MFRL=0,0;MMQ=60,60;MPOS=0;POPAF=7.30;TLOD=10.50 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.750:3:0,0:0,2:0,2:0,0,2,1 -chr1 1226946 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|2,2;DP=4;ECNT=1;GERMQ=52;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=46;POPAF=7.30;TLOD=14.43 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.750:4:0,0:0,2:0,2:0,0,2,2 -chr1 1232278 . C T . PASS AS_FilterStatus=SITE;AS_SB_TABLE=6,6|1,1;DP=14;ECNT=1;GERMQ=53;MBQ=33,32;MFRL=0,0;MMQ=60,60;MPOS=6;POPAF=7.30;TLOD=5.51 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:12,2:0.222:14:0,0:6,1:6,1:6,6,1,1 -chr1 1232533 . G A . PASS AS_FilterStatus=SITE;AS_SB_TABLE=24,22|1,1;DP=50;ECNT=1;GERMQ=93;MBQ=33,33;MFRL=0,0;MMQ=60,60;MPOS=16;POPAF=7.30;TLOD=4.73 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:46,2:0.074:48:0,0:23,1:24,1:24,22,1,1 -chr1 1233710 . GT G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=99,106|2,2;DP=211;ECNT=1;GERMQ=93;MBQ=34,34;MFRL=0,0;MMQ=60,60;MPOS=19;POPAF=7.30;RPA=3,2;RU=T;STR;STRQ=93;TLOD=8.30 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:205,4:0.024:209:9,0:100,2:122,2:99,106,2,2 diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr1_flt.vcf.filteringStats.tsv b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr1_flt.vcf.filteringStats.tsv deleted file mode 100644 index e07bf5c..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr1_flt.vcf.filteringStats.tsv +++ /dev/null @@ -1,33 +0,0 @@ -#Ln prior of deletion of length 10=-20.72326583694641 -#Ln prior of deletion of length 9=-20.72326583694641 -#Ln prior of deletion of length 8=-20.72326583694641 -#Ln prior of deletion of length 7=-20.72326583694641 -#Ln prior of deletion of length 6=-20.72326583694641 -#Ln prior of deletion of length 5=-20.72326583694641 -#Ln prior of deletion of length 4=-10.705969826069463 -#Ln prior of deletion of length 3=-10.841910418679548 -#Ln prior of deletion of length 2=-9.116494988904973 -#Ln prior of deletion of length 1=-8.522629603667992 -#Ln prior of SNV=-5.186365716831183 -#Ln prior of insertion of length 1=-9.217321198883958 -#Ln prior of insertion of length 2=-9.591276982441025 -#Ln prior of insertion of length 3=-20.72326583694641 -#Ln prior of insertion of length 4=-20.72326583694641 -#Ln prior of insertion of length 5=-20.72326583694641 -#Ln prior of insertion of length 6=-20.72326583694641 -#Ln prior of insertion of length 7=-20.72326583694641 -#Ln prior of insertion of length 8=-20.72326583694641 -#Ln prior of insertion of length 9=-20.72326583694641 -#Ln prior of insertion of length 10=-20.72326583694641 -#Background beta-binomial cluster=weight = 0.4948, alpha = 1.29, beta = 2.71 -#High-AF beta-binomial cluster=weight = 0.0487, alpha = 10.01, beta = 0.77 -#Binomial cluster=weight = 0.4564, mean = 0.990 -#threshold=0.491 -#fdr=0.021 -#sensitivity=0.995 -filter FP FDR FN FNR -weak_evidence 6.24 0.02 1.16 0.0 -strand_bias 0.01 0.0 0.0 0.0 -slippage 0.45 0.0 0.07 0.0 -haplotype 0.33 0.0 0.0 0.0 -germline 0.09 0.0 0.0 0.0 diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr1_flt.vcf.gz b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr1_flt.vcf.gz deleted file mode 100644 index 8b7371e..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr1_flt.vcf.gz and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr1_flt.vcf.gz.tbi b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr1_flt.vcf.gz.tbi deleted file mode 100644 index e5bd3cd..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr1_flt.vcf.gz.tbi and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr1_flt.vcf.idx b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr1_flt.vcf.idx deleted file mode 100644 index 526b306..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr1_flt.vcf.idx and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr2.vcf b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr2.vcf deleted file mode 100644 index 0527548..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr2.vcf +++ /dev/null @@ -1,120 +0,0 @@ -##fileformat=VCFv4.2 -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##GATKCommandLine= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##MutectVersion=2.2 -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##filtering_status=Warning: unfiltered Mutect 2 calls. Please run FilterMutectCalls to remove false positives. -##source=Mutect2 -##tumor_sample=unknown -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT unknown -chr2 130229486 . G A . . AS_SB_TABLE=0,0|4,4;DP=8;ECNT=3;MBQ=0,32;MFRL=0,0;MMQ=60,26;MPOS=5;POPAF=7.30;TLOD=35.30 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,8:0.833:8:0,0:0,4:0,4:0|1:130229486_G_A:130229486:0,0,4,4 -chr2 130229492 . G A . . AS_SB_TABLE=0,0|4,7;DP=12;ECNT=3;MBQ=0,32;MFRL=0,0;MMQ=60,21;MPOS=9;POPAF=7.30;TLOD=42.42 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,11:0.893:11:0,3:0,4:0,7:0|1:130229486_G_A:130229486:0,0,4,7 -chr2 130229520 . G A . . AS_SB_TABLE=0,0|6,11;DP=17;ECNT=3;MBQ=0,34;MFRL=0,0;MMQ=60,21;MPOS=28;POPAF=7.30;TLOD=45.76 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,17:0.923:17:0,4:0,6:0,11:0,0,6,11 -chr2 130229579 . T C . . AS_SB_TABLE=0,0|10,13;DP=25;ECNT=3;MBQ=0,34;MFRL=0,0;MMQ=60,20;MPOS=96;POPAF=7.30;TLOD=58.28 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,23:0.939:23:0,4:0,10:0,14:0,0,10,13 -chr2 130229607 . G C . . AS_SB_TABLE=0,0|2,7;DP=18;ECNT=3;MBQ=0,35;MFRL=0,0;MMQ=60,20;MPOS=115;POPAF=7.30;TLOD=21.45 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,9:0.906:9:0,3:0,2:0,7:0,0,2,7 -chr2 130229647 . A T . . AS_SB_TABLE=0,0|4,6;DP=11;ECNT=3;MBQ=0,33;MFRL=0,0;MMQ=60,52;MPOS=10;POPAF=7.30;TLOD=33.32 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,10:0.880:10:0,2:0,4:0,6:0,0,4,6 -chr2 130229689 . A G . . AS_SB_TABLE=0,0|6,8;DP=14;ECNT=8;MBQ=0,33;MFRL=0,0;MMQ=60,50;MPOS=50;POPAF=7.30;TLOD=50.62 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,14:0.900:14:0,2:0,6:0,8:0,0,6,8 -chr2 130229709 . T G . . AS_SB_TABLE=0,0|6,8;DP=14;ECNT=8;MBQ=0,33;MFRL=0,0;MMQ=60,50;MPOS=70;POPAF=7.30;TLOD=49.72 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,14:0.900:14:0,2:0,6:0,8:0,0,6,8 -chr2 130229735 . T G . . AS_SB_TABLE=0,0|6,8;DP=14;ECNT=8;MBQ=0,33;MFRL=0,0;MMQ=60,50;MPOS=96;POPAF=7.30;TLOD=38.77 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,14:0.900:14:0,2:0,6:0,8:0,0,6,8 -chr2 130229747 . A G . . AS_SB_TABLE=0,0|7,10;DP=17;ECNT=8;MBQ=0,32;MFRL=0,0;MMQ=60,49;MPOS=105;POPAF=7.30;TLOD=75.46 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,17:0.917:17:0,3:0,7:0,10:0|1:130229747_A_G:130229747:0,0,7,10 -chr2 130229753 . G A . . AS_SB_TABLE=0,0|8,11;DP=19;ECNT=8;MBQ=0,33;MFRL=0,0;MMQ=60,49;MPOS=111;POPAF=7.30;TLOD=82.34 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,19:0.929:19:0,3:0,6:0,12:0|1:130229747_A_G:130229747:0,0,8,11 -chr2 130229756 . G A . . AS_SB_TABLE=0,0|8,11;DP=19;ECNT=8;MBQ=0,33;MFRL=0,0;MMQ=60,49;MPOS=111;POPAF=7.30;TLOD=82.34 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,19:0.929:19:0,4:0,8:0,12:0|1:130229747_A_G:130229747:0,0,8,11 -chr2 130229803 . G C . . AS_SB_TABLE=0,0|7,9;DP=18;ECNT=8;MBQ=0,34;MFRL=0,0;MMQ=60,41;MPOS=27;POPAF=7.30;TLOD=57.79 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,16:0.935:16:0,6:0,7:0,13:0,0,7,9 -chr2 130229817 . C G . . AS_SB_TABLE=0,0|11,11;DP=22;ECNT=8;MBQ=0,32;MFRL=0,0;MMQ=60,40;MPOS=30;POPAF=7.30;TLOD=78.38 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,22:0.947:22:0,6:0,11:0,17:0,0,11,11 -chr2 130229920 . A G . . AS_SB_TABLE=0,0|12,11;DP=27;ECNT=1;MBQ=0,32;MFRL=0,0;MMQ=60,40;MPOS=99;POPAF=7.30;TLOD=79.42 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,23:0.945:23:0,3:0,12:0,15:0,0,12,11 -chr2 130230633 . T C . . AS_SB_TABLE=0,0|3,5;DP=8;ECNT=5;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=17;POPAF=7.30;TLOD=26.65 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.874:8:0,2:0,3:0,6:0,0,3,5 -chr2 130230668 . T C . . AS_SB_TABLE=0,0|7,8;DP=15;ECNT=5;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=40;POPAF=7.30;TLOD=53.27 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,15:0.923:15:0,4:0,7:0,11:0,0,7,8 -chr2 130230679 . G A . . AS_SB_TABLE=0,0|7,8;DP=15;ECNT=5;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=51;POPAF=7.30;TLOD=46.42 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,15:0.922:15:0,2:0,7:0,11:0,0,7,8 -chr2 130230727 . A G . . AS_SB_TABLE=0,0|7,8;DP=15;ECNT=5;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=99;POPAF=7.30;TLOD=52.87 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,15:0.923:15:0,4:0,7:0,11:0,0,7,8 -chr2 130230790 . A G . . AS_SB_TABLE=0,0|2,1;DP=7;ECNT=5;MBQ=0,31;MFRL=0,0;MMQ=60,29;MPOS=142;POPAF=7.30;TLOD=8.82 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.825:3:0,0:0,2:0,3:0,0,2,1 -chr2 130230924 . A G . . AS_SB_TABLE=0,0|0,0;DP=2;ECNT=2;MBQ=0,33;MFRL=0,0;MMQ=60,21;MPOS=32;POPAF=7.30;TLOD=4.85 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr2 130231008 . C T . . AS_SB_TABLE=0,0|0,0;DP=2;ECNT=2;MBQ=0,33;MFRL=0,0;MMQ=60,21;MPOS=116;POPAF=7.30;TLOD=4.85 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr2 130231176 . C G . . AS_SB_TABLE=0,0|3,5;DP=10;ECNT=6;MBQ=0,32;MFRL=0,0;MMQ=60,33;MPOS=6;POPAF=7.30;TLOD=26.98 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.864:8:0,2:0,3:0,5:0,0,3,5 -chr2 130231189 . T G . . AS_SB_TABLE=0,0|5,7;DP=13;ECNT=6;MBQ=0,32;MFRL=0,0;MMQ=60,37;MPOS=15;POPAF=7.30;TLOD=41.57 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,12:0.893:12:0,2:0,5:0,7:0,0,5,7 -chr2 130231202 . C A . . AS_SB_TABLE=0,0|6,10;DP=16;ECNT=6;MBQ=0,32;MFRL=0,0;MMQ=60,37;MPOS=26;POPAF=7.30;TLOD=56.65 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,16:0.917:16:0,4:0,6:0,10:0,0,6,10 -chr2 130231206 . C T . . AS_SB_TABLE=5,8|1,2;DP=16;ECNT=6;MBQ=33,31;MFRL=0,0;MMQ=40,29;MPOS=31;POPAF=7.30;TLOD=7.54 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:13,3:0.250:16:3,1:4,1:8,2:5,8,1,2 -chr2 130231240 . A G . . AS_SB_TABLE=0,0|6,10;DP=16;ECNT=6;MBQ=0,33;MFRL=0,0;MMQ=60,37;MPOS=64;POPAF=7.30;TLOD=54.65 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,16:0.917:16:0,4:0,6:0,10:0,0,6,10 -chr2 130231320 . G A . . AS_SB_TABLE=0,0|1,3;DP=7;ECNT=6;MBQ=0,32;MFRL=0,0;MMQ=60,40;MPOS=125;POPAF=7.30;TLOD=11.62 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.819:4:0,2:0,1:0,3:0,0,1,3 -chr2 131442793 . T C . . AS_SB_TABLE=0,0|1,2;DP=3;ECNT=6;MBQ=0,34;MFRL=0,0;MMQ=60,49;MPOS=78;POPAF=7.30;TLOD=13.02 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.750:3:0,1:0,1:0,2:0|1:131442793_T_C:131442793:0,0,1,2 -chr2 131442797 . C G . . AS_SB_TABLE=0,0|1,2;DP=3;ECNT=6;MBQ=0,34;MFRL=0,0;MMQ=60,49;MPOS=74;POPAF=7.30;TLOD=13.02 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.750:3:0,1:0,1:0,2:0|1:131442793_T_C:131442793:0,0,1,2 -chr2 131442810 . C T . . AS_SB_TABLE=0,0|1,2;DP=3;ECNT=6;MBQ=0,33;MFRL=0,0;MMQ=60,49;MPOS=61;POPAF=7.30;TLOD=13.02 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.750:3:0,1:0,1:0,2:0|1:131442793_T_C:131442793:0,0,1,2 -chr2 131442829 . C T . . AS_SB_TABLE=0,0|1,2;DP=3;ECNT=6;MBQ=0,33;MFRL=0,0;MMQ=60,49;MPOS=42;POPAF=7.30;TLOD=13.02 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.750:3:0,1:0,1:0,2:0|1:131442793_T_C:131442793:0,0,1,2 -chr2 131442842 . T C . . AS_SB_TABLE=0,0|1,2;DP=3;ECNT=6;MBQ=0,34;MFRL=0,0;MMQ=60,49;MPOS=29;POPAF=7.30;TLOD=13.02 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.750:3:0,1:0,1:0,2:0|1:131442793_T_C:131442793:0,0,1,2 -chr2 131442846 . A G . . AS_SB_TABLE=0,0|1,2;DP=3;ECNT=6;MBQ=0,33;MFRL=0,0;MMQ=60,49;MPOS=25;POPAF=7.30;TLOD=13.02 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.750:3:0,1:0,1:0,2:0|1:131442793_T_C:131442793:0,0,1,2 -chr2 131443009 . A G . . AS_SB_TABLE=0,0|3,1;DP=5;ECNT=9;MBQ=0,32;MFRL=0,0;MMQ=60,28;MPOS=125;POPAF=7.30;TLOD=12.41 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.833:4:0,1:0,3:0,4:0,0,3,1 -chr2 131443024 . A G . . AS_SB_TABLE=0,0|3,3;DP=9;ECNT=9;MBQ=0,34;MFRL=0,0;MMQ=60,28;MPOS=110;POPAF=7.30;TLOD=19.15 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.864:6:0,2:0,3:0,5:0,0,3,3 -chr2 131443048 . G A . . AS_SB_TABLE=2,5|1,1;DP=9;ECNT=9;MBQ=33,33;MFRL=0,0;MMQ=29,38;MPOS=106;POPAF=7.30;TLOD=5.33 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,2:0.250:9:3,0:2,1:5,1:2,5,1,1 -chr2 131443052 . G T . . AS_SB_TABLE=0,0|3,6;DP=9;ECNT=9;MBQ=0,33;MFRL=0,0;MMQ=60,29;MPOS=105;POPAF=7.30;TLOD=32.74 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,9:0.875:9:0,3:0,3:0,6:0,0,3,6 -chr2 131443065 . A C . . AS_SB_TABLE=0,0|3,6;DP=9;ECNT=9;MBQ=0,32;MFRL=0,0;MMQ=60,29;MPOS=92;POPAF=7.30;TLOD=30.67 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,9:0.875:9:0,3:0,3:0,6:0,0,3,6 -chr2 131443078 . G C . . AS_SB_TABLE=0,0|3,6;DP=9;ECNT=9;MBQ=0,35;MFRL=0,0;MMQ=60,29;MPOS=79;POPAF=7.30;TLOD=31.10 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,9:0.875:9:0,3:0,3:0,6:0,0,3,6 -chr2 131443100 . G C . . AS_SB_TABLE=0,0|3,6;DP=9;ECNT=9;MBQ=0,34;MFRL=0,0;MMQ=60,29;MPOS=57;POPAF=7.30;TLOD=31.07 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,9:0.875:9:0,3:0,3:0,6:0,0,3,6 -chr2 131443144 . G A . . AS_SB_TABLE=0,0|0,5;DP=5;ECNT=9;MBQ=0,32;MFRL=0,0;MMQ=60,32;MPOS=28;POPAF=7.30;TLOD=21.72 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,5:0.857:5:0,2:0,0:0,5:0|1:131443144_G_A:131443144:0,0,0,5 -chr2 131443146 . T G . . AS_SB_TABLE=0,0|0,5;DP=5;ECNT=9;MBQ=0,35;MFRL=0,0;MMQ=60,32;MPOS=26;POPAF=7.30;TLOD=21.72 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,5:0.857:5:0,2:0,0:0,5:0|1:131443144_G_A:131443144:0,0,0,5 -chr2 131443797 . C G . . AS_SB_TABLE=0,0|0,0;DP=2;ECNT=4;MBQ=0,33;MFRL=0,0;MMQ=60,47;MPOS=132;POPAF=7.30;TLOD=8.70 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,2:0.667:2:0,0:0,1:0,1:0|1:131443797_C_G:131443797:0,0,1,1 -chr2 131443801 . G A . . AS_SB_TABLE=0,0|0,0;DP=2;ECNT=4;MBQ=0,33;MFRL=0,0;MMQ=60,47;MPOS=128;POPAF=7.30;TLOD=8.70 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,2:0.667:2:0,0:0,1:0,1:0|1:131443797_C_G:131443797:0,0,1,1 -chr2 131443807 . G A . . AS_SB_TABLE=0,0|0,0;DP=4;ECNT=4;MBQ=0,33;MFRL=0,0;MMQ=60,47;MPOS=122;POPAF=7.30;TLOD=8.63 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,2:0.684:2:0,0:0,1:0,1:0|1:131443797_C_G:131443797:0,0,1,1 -chr2 131443869 . A G . . AS_SB_TABLE=0,0|4,3;DP=7;ECNT=4;MBQ=0,32;MFRL=0,0;MMQ=60,47;MPOS=60;POPAF=7.30;TLOD=21.83 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,7:0.833:7:0,0:0,4:0,4:0,0,4,3 -chr2 131443961 . G A . . AS_SB_TABLE=0,0|9,6;DP=15;ECNT=4;MBQ=0,33;MFRL=0,0;MMQ=60,34;MPOS=76;POPAF=7.30;TLOD=66.50 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,15:0.909:15:0,0:0,9:0,9:0|1:131443961_G_A:131443961:0,0,9,6 -chr2 131443973 . T A . . AS_SB_TABLE=0,0|9,6;DP=15;ECNT=4;MBQ=0,33;MFRL=0,0;MMQ=60,34;MPOS=64;POPAF=7.30;TLOD=66.50 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,15:0.909:15:0,0:0,9:0,9:0|1:131443961_G_A:131443961:0,0,9,6 -chr2 131444000 . A G . . AS_SB_TABLE=0,0|7,5;DP=12;ECNT=4;MBQ=0,34;MFRL=0,0;MMQ=60,38;MPOS=51;POPAF=7.30;TLOD=53.10 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,12:0.889:12:0,0:0,7:0,7:0|1:131444000_A_G:131444000:0,0,7,5 -chr2 131444009 . A G . . AS_SB_TABLE=0,0|7,5;DP=12;ECNT=4;MBQ=0,34;MFRL=0,0;MMQ=60,38;MPOS=42;POPAF=7.30;TLOD=53.10 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,12:0.889:12:0,0:0,6:0,7:0|1:131444000_A_G:131444000:0,0,7,5 diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr2.vcf.idx b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr2.vcf.idx deleted file mode 100644 index 36e03bb..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr2.vcf.idx and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr2.vcf.stats b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr2.vcf.stats deleted file mode 100644 index 54f0d83..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr2.vcf.stats +++ /dev/null @@ -1,2 +0,0 @@ -statistic value -callable 937.0 diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr20.vcf b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr20.vcf deleted file mode 100644 index adadbcd..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr20.vcf +++ /dev/null @@ -1,69 +0,0 @@ -##fileformat=VCFv4.2 -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##GATKCommandLine= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##MutectVersion=2.2 -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##filtering_status=Warning: unfiltered Mutect 2 calls. Please run FilterMutectCalls to remove false positives. -##source=Mutect2 -##tumor_sample=unknown -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT unknown diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr20.vcf.idx b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr20.vcf.idx deleted file mode 100644 index dbead14..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr20.vcf.idx and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr20.vcf.stats b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr20.vcf.stats deleted file mode 100644 index 4f62813..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr20.vcf.stats +++ /dev/null @@ -1,2 +0,0 @@ -statistic value -callable 0.0 diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr20_flt.vcf b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr20_flt.vcf deleted file mode 100644 index 9881def..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr20_flt.vcf +++ /dev/null @@ -1,94 +0,0 @@ -##fileformat=VCFv4.2 -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##GATKCommandLine= -##GATKCommandLine= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##MutectVersion=2.2 -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##filtering_status=These calls have been filtered by FilterMutectCalls to label false positives with a list of failed filters and true positives with PASS. -##source=FilterMutectCalls -##source=Mutect2 -##tumor_sample=unknown -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT unknown diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr20_flt.vcf.filteringStats.tsv b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr20_flt.vcf.filteringStats.tsv deleted file mode 100644 index 89fafef..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr20_flt.vcf.filteringStats.tsv +++ /dev/null @@ -1,27 +0,0 @@ -#Ln prior of deletion of length 10=-16.11809565095832 -#Ln prior of deletion of length 9=-16.11809565095832 -#Ln prior of deletion of length 8=-16.11809565095832 -#Ln prior of deletion of length 7=-16.11809565095832 -#Ln prior of deletion of length 6=-16.11809565095832 -#Ln prior of deletion of length 5=-16.11809565095832 -#Ln prior of deletion of length 4=-16.11809565095832 -#Ln prior of deletion of length 3=-16.11809565095832 -#Ln prior of deletion of length 2=-16.11809565095832 -#Ln prior of deletion of length 1=-16.11809565095832 -#Ln prior of SNV=-13.815510557964275 -#Ln prior of insertion of length 1=-16.11809565095832 -#Ln prior of insertion of length 2=-16.11809565095832 -#Ln prior of insertion of length 3=-16.11809565095832 -#Ln prior of insertion of length 4=-16.11809565095832 -#Ln prior of insertion of length 5=-16.11809565095832 -#Ln prior of insertion of length 6=-16.11809565095832 -#Ln prior of insertion of length 7=-16.11809565095832 -#Ln prior of insertion of length 8=-16.11809565095832 -#Ln prior of insertion of length 9=-16.11809565095832 -#Ln prior of insertion of length 10=-16.11809565095832 -#Background beta-binomial cluster=weight = 0.5000, alpha = 1.00, beta = 1.00 -#High-AF beta-binomial cluster=weight = 0.5000, alpha = 10.00, beta = 1.00 -#threshold=0.0 -#fdr=0.0 -#sensitivity=0.0 -filter FP FDR FN FNR diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr20_flt.vcf.gz b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr20_flt.vcf.gz deleted file mode 100644 index 36cb76b..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr20_flt.vcf.gz and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr20_flt.vcf.gz.tbi b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr20_flt.vcf.gz.tbi deleted file mode 100644 index b9e0990..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr20_flt.vcf.gz.tbi and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr20_flt.vcf.idx b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr20_flt.vcf.idx deleted file mode 100644 index 24ab2ba..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr20_flt.vcf.idx and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr21.vcf b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr21.vcf deleted file mode 100644 index b91b159..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr21.vcf +++ /dev/null @@ -1,69 +0,0 @@ -##fileformat=VCFv4.2 -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##GATKCommandLine= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##MutectVersion=2.2 -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##filtering_status=Warning: unfiltered Mutect 2 calls. Please run FilterMutectCalls to remove false positives. -##source=Mutect2 -##tumor_sample=unknown -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT unknown diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr21.vcf.idx b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr21.vcf.idx deleted file mode 100644 index 212bf35..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr21.vcf.idx and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr21.vcf.stats b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr21.vcf.stats deleted file mode 100644 index 4f62813..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr21.vcf.stats +++ /dev/null @@ -1,2 +0,0 @@ -statistic value -callable 0.0 diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr21_flt.vcf b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr21_flt.vcf deleted file mode 100644 index 3d0a625..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr21_flt.vcf +++ /dev/null @@ -1,94 +0,0 @@ -##fileformat=VCFv4.2 -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##GATKCommandLine= -##GATKCommandLine= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##MutectVersion=2.2 -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##filtering_status=These calls have been filtered by FilterMutectCalls to label false positives with a list of failed filters and true positives with PASS. -##source=FilterMutectCalls -##source=Mutect2 -##tumor_sample=unknown -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT unknown diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr21_flt.vcf.filteringStats.tsv b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr21_flt.vcf.filteringStats.tsv deleted file mode 100644 index 89fafef..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr21_flt.vcf.filteringStats.tsv +++ /dev/null @@ -1,27 +0,0 @@ -#Ln prior of deletion of length 10=-16.11809565095832 -#Ln prior of deletion of length 9=-16.11809565095832 -#Ln prior of deletion of length 8=-16.11809565095832 -#Ln prior of deletion of length 7=-16.11809565095832 -#Ln prior of deletion of length 6=-16.11809565095832 -#Ln prior of deletion of length 5=-16.11809565095832 -#Ln prior of deletion of length 4=-16.11809565095832 -#Ln prior of deletion of length 3=-16.11809565095832 -#Ln prior of deletion of length 2=-16.11809565095832 -#Ln prior of deletion of length 1=-16.11809565095832 -#Ln prior of SNV=-13.815510557964275 -#Ln prior of insertion of length 1=-16.11809565095832 -#Ln prior of insertion of length 2=-16.11809565095832 -#Ln prior of insertion of length 3=-16.11809565095832 -#Ln prior of insertion of length 4=-16.11809565095832 -#Ln prior of insertion of length 5=-16.11809565095832 -#Ln prior of insertion of length 6=-16.11809565095832 -#Ln prior of insertion of length 7=-16.11809565095832 -#Ln prior of insertion of length 8=-16.11809565095832 -#Ln prior of insertion of length 9=-16.11809565095832 -#Ln prior of insertion of length 10=-16.11809565095832 -#Background beta-binomial cluster=weight = 0.5000, alpha = 1.00, beta = 1.00 -#High-AF beta-binomial cluster=weight = 0.5000, alpha = 10.00, beta = 1.00 -#threshold=0.0 -#fdr=0.0 -#sensitivity=0.0 -filter FP FDR FN FNR diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr21_flt.vcf.gz b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr21_flt.vcf.gz deleted file mode 100644 index 1f970df..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr21_flt.vcf.gz and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr21_flt.vcf.gz.tbi b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr21_flt.vcf.gz.tbi deleted file mode 100644 index b9e0990..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr21_flt.vcf.gz.tbi and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr21_flt.vcf.idx b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr21_flt.vcf.idx deleted file mode 100644 index 1ad1983..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr21_flt.vcf.idx and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr22.vcf b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr22.vcf deleted file mode 100644 index 83d1505..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr22.vcf +++ /dev/null @@ -1,69 +0,0 @@ -##fileformat=VCFv4.2 -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##GATKCommandLine= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##MutectVersion=2.2 -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##filtering_status=Warning: unfiltered Mutect 2 calls. Please run FilterMutectCalls to remove false positives. -##source=Mutect2 -##tumor_sample=unknown -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT unknown diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr22.vcf.idx b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr22.vcf.idx deleted file mode 100644 index 066ed18..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr22.vcf.idx and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr22.vcf.stats b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr22.vcf.stats deleted file mode 100644 index 4f62813..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr22.vcf.stats +++ /dev/null @@ -1,2 +0,0 @@ -statistic value -callable 0.0 diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr22_flt.vcf b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr22_flt.vcf deleted file mode 100644 index 513e007..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr22_flt.vcf +++ /dev/null @@ -1,94 +0,0 @@ -##fileformat=VCFv4.2 -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##GATKCommandLine= -##GATKCommandLine= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##MutectVersion=2.2 -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##filtering_status=These calls have been filtered by FilterMutectCalls to label false positives with a list of failed filters and true positives with PASS. -##source=FilterMutectCalls -##source=Mutect2 -##tumor_sample=unknown -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT unknown diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr22_flt.vcf.filteringStats.tsv b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr22_flt.vcf.filteringStats.tsv deleted file mode 100644 index 89fafef..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr22_flt.vcf.filteringStats.tsv +++ /dev/null @@ -1,27 +0,0 @@ -#Ln prior of deletion of length 10=-16.11809565095832 -#Ln prior of deletion of length 9=-16.11809565095832 -#Ln prior of deletion of length 8=-16.11809565095832 -#Ln prior of deletion of length 7=-16.11809565095832 -#Ln prior of deletion of length 6=-16.11809565095832 -#Ln prior of deletion of length 5=-16.11809565095832 -#Ln prior of deletion of length 4=-16.11809565095832 -#Ln prior of deletion of length 3=-16.11809565095832 -#Ln prior of deletion of length 2=-16.11809565095832 -#Ln prior of deletion of length 1=-16.11809565095832 -#Ln prior of SNV=-13.815510557964275 -#Ln prior of insertion of length 1=-16.11809565095832 -#Ln prior of insertion of length 2=-16.11809565095832 -#Ln prior of insertion of length 3=-16.11809565095832 -#Ln prior of insertion of length 4=-16.11809565095832 -#Ln prior of insertion of length 5=-16.11809565095832 -#Ln prior of insertion of length 6=-16.11809565095832 -#Ln prior of insertion of length 7=-16.11809565095832 -#Ln prior of insertion of length 8=-16.11809565095832 -#Ln prior of insertion of length 9=-16.11809565095832 -#Ln prior of insertion of length 10=-16.11809565095832 -#Background beta-binomial cluster=weight = 0.5000, alpha = 1.00, beta = 1.00 -#High-AF beta-binomial cluster=weight = 0.5000, alpha = 10.00, beta = 1.00 -#threshold=0.0 -#fdr=0.0 -#sensitivity=0.0 -filter FP FDR FN FNR diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr22_flt.vcf.gz b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr22_flt.vcf.gz deleted file mode 100644 index 4a80e26..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr22_flt.vcf.gz and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr22_flt.vcf.gz.tbi b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr22_flt.vcf.gz.tbi deleted file mode 100644 index b9e0990..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr22_flt.vcf.gz.tbi and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr22_flt.vcf.idx b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr22_flt.vcf.idx deleted file mode 100644 index d452620..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr22_flt.vcf.idx and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr2_flt.vcf b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr2_flt.vcf deleted file mode 100644 index bc3262f..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr2_flt.vcf +++ /dev/null @@ -1,145 +0,0 @@ -##fileformat=VCFv4.2 -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##GATKCommandLine= -##GATKCommandLine= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##MutectVersion=2.2 -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##filtering_status=These calls have been filtered by FilterMutectCalls to label false positives with a list of failed filters and true positives with PASS. -##source=FilterMutectCalls -##source=Mutect2 -##tumor_sample=unknown -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT unknown -chr2 130229486 . G A . clustered_events;haplotype;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0,0|4,4;DP=8;ECNT=3;GERMQ=59;MBQ=0,32;MFRL=0,0;MMQ=60,26;MPOS=5;POPAF=7.30;TLOD=35.30 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,8:0.833:8:0,0:0,4:0,4:0|1:130229486_G_A:130229486:0,0,4,4 -chr2 130229492 . G A . clustered_events;haplotype;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0,0|4,7;DP=12;ECNT=3;GERMQ=67;MBQ=0,32;MFRL=0,0;MMQ=60,21;MPOS=9;POPAF=7.30;TLOD=42.42 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,11:0.893:11:0,3:0,4:0,7:0|1:130229486_G_A:130229486:0,0,4,7 -chr2 130229520 . G A . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0,0|6,11;DP=17;ECNT=3;GERMQ=85;MBQ=0,34;MFRL=0,0;MMQ=60,21;MPOS=28;POPAF=7.30;TLOD=45.76 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,17:0.923:17:0,4:0,6:0,11:0,0,6,11 -chr2 130229579 . T C . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0,0|10,13;DP=25;ECNT=3;GERMQ=93;MBQ=0,34;MFRL=0,0;MMQ=60,20;MPOS=96;POPAF=7.30;TLOD=58.28 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,23:0.939:23:0,4:0,10:0,14:0,0,10,13 -chr2 130229607 . G C . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0,0|2,7;DP=18;ECNT=3;GERMQ=62;MBQ=0,35;MFRL=0,0;MMQ=60,20;MPOS=115;POPAF=7.30;TLOD=21.45 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,9:0.906:9:0,3:0,2:0,7:0,0,2,7 -chr2 130229647 . A T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|4,6;DP=11;ECNT=3;GERMQ=65;MBQ=0,33;MFRL=0,0;MMQ=60,52;MPOS=10;POPAF=7.30;TLOD=33.32 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,10:0.880:10:0,2:0,4:0,6:0,0,4,6 -chr2 130229689 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|6,8;DP=14;ECNT=8;GERMQ=76;MBQ=0,33;MFRL=0,0;MMQ=60,50;MPOS=50;POPAF=7.30;TLOD=50.62 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,14:0.900:14:0,2:0,6:0,8:0,0,6,8 -chr2 130229709 . T G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|6,8;DP=14;ECNT=8;GERMQ=76;MBQ=0,33;MFRL=0,0;MMQ=60,50;MPOS=70;POPAF=7.30;TLOD=49.72 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,14:0.900:14:0,2:0,6:0,8:0,0,6,8 -chr2 130229735 . T G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|6,8;DP=14;ECNT=8;GERMQ=76;MBQ=0,33;MFRL=0,0;MMQ=60,50;MPOS=96;POPAF=7.30;TLOD=38.77 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,14:0.900:14:0,2:0,6:0,8:0,0,6,8 -chr2 130229747 . A G . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0,0|7,10;DP=17;ECNT=8;GERMQ=85;MBQ=0,32;MFRL=0,0;MMQ=60,49;MPOS=105;POPAF=7.30;TLOD=75.46 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,17:0.917:17:0,3:0,7:0,10:0|1:130229747_A_G:130229747:0,0,7,10 -chr2 130229753 . G A . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0,0|8,11;DP=19;ECNT=8;GERMQ=91;MBQ=0,33;MFRL=0,0;MMQ=60,49;MPOS=111;POPAF=7.30;TLOD=82.34 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,19:0.929:19:0,3:0,6:0,12:0|1:130229747_A_G:130229747:0,0,8,11 -chr2 130229756 . G A . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0,0|8,11;DP=19;ECNT=8;GERMQ=91;MBQ=0,33;MFRL=0,0;MMQ=60,49;MPOS=111;POPAF=7.30;TLOD=82.34 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,19:0.929:19:0,4:0,8:0,12:0|1:130229747_A_G:130229747:0,0,8,11 -chr2 130229803 . G C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|7,9;DP=18;ECNT=8;GERMQ=82;MBQ=0,34;MFRL=0,0;MMQ=60,41;MPOS=27;POPAF=7.30;TLOD=57.79 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,16:0.935:16:0,6:0,7:0,13:0,0,7,9 -chr2 130229817 . C G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|11,11;DP=22;ECNT=8;GERMQ=93;MBQ=0,32;MFRL=0,0;MMQ=60,40;MPOS=30;POPAF=7.30;TLOD=78.38 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,22:0.947:22:0,6:0,11:0,17:0,0,11,11 -chr2 130229920 . A G . PASS AS_FilterStatus=SITE;AS_SB_TABLE=0,0|12,11;DP=27;ECNT=1;GERMQ=93;MBQ=0,32;MFRL=0,0;MMQ=60,40;MPOS=99;POPAF=7.30;TLOD=79.42 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,23:0.945:23:0,3:0,12:0,15:0,0,12,11 -chr2 130230633 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|3,5;DP=8;ECNT=5;GERMQ=59;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=17;POPAF=7.30;TLOD=26.65 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.874:8:0,2:0,3:0,6:0,0,3,5 -chr2 130230668 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|7,8;DP=15;ECNT=5;GERMQ=79;MBQ=0,33;MFRL=0,0;MMQ=60,60;MPOS=40;POPAF=7.30;TLOD=53.27 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,15:0.923:15:0,4:0,7:0,11:0,0,7,8 -chr2 130230679 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|7,8;DP=15;ECNT=5;GERMQ=79;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=51;POPAF=7.30;TLOD=46.42 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,15:0.922:15:0,2:0,7:0,11:0,0,7,8 -chr2 130230727 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|7,8;DP=15;ECNT=5;GERMQ=79;MBQ=0,32;MFRL=0,0;MMQ=60,60;MPOS=99;POPAF=7.30;TLOD=52.87 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,15:0.923:15:0,4:0,7:0,11:0,0,7,8 -chr2 130230790 . A G . clustered_events;map_qual;strand_bias;weak_evidence AS_FilterStatus=weak_evidence,map_qual,strand_bias;AS_SB_TABLE=0,0|2,1;DP=7;ECNT=5;GERMQ=44;MBQ=0,31;MFRL=0,0;MMQ=60,29;MPOS=142;POPAF=7.30;TLOD=8.82 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,3:0.825:3:0,0:0,2:0,3:0,0,2,1 -chr2 130230924 . A G . map_qual;weak_evidence AS_FilterStatus=weak_evidence,map_qual;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=2;GERMQ=41;MBQ=0,33;MFRL=0,0;MMQ=60,21;MPOS=32;POPAF=7.30;TLOD=4.85 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr2 130231008 . C T . map_qual;weak_evidence AS_FilterStatus=weak_evidence,map_qual;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=2;GERMQ=41;MBQ=0,33;MFRL=0,0;MMQ=60,21;MPOS=116;POPAF=7.30;TLOD=4.85 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr2 130231176 . C G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|3,5;DP=10;ECNT=6;GERMQ=59;MBQ=0,32;MFRL=0,0;MMQ=60,33;MPOS=6;POPAF=7.30;TLOD=26.98 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,8:0.864:8:0,2:0,3:0,5:0,0,3,5 -chr2 130231189 . T G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|5,7;DP=13;ECNT=6;GERMQ=70;MBQ=0,32;MFRL=0,0;MMQ=60,37;MPOS=15;POPAF=7.30;TLOD=41.57 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,12:0.893:12:0,2:0,5:0,7:0,0,5,7 -chr2 130231202 . C A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|6,10;DP=16;ECNT=6;GERMQ=82;MBQ=0,32;MFRL=0,0;MMQ=60,37;MPOS=26;POPAF=7.30;TLOD=56.65 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,16:0.917:16:0,4:0,6:0,10:0,0,6,10 -chr2 130231206 . C T . clustered_events;map_qual;strand_bias;weak_evidence AS_FilterStatus=weak_evidence,map_qual,strand_bias;AS_SB_TABLE=5,8|1,2;DP=16;ECNT=6;GERMQ=34;MBQ=33,31;MFRL=0,0;MMQ=40,29;MPOS=31;POPAF=7.30;TLOD=7.54 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:13,3:0.250:16:3,1:4,1:8,2:5,8,1,2 -chr2 130231240 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|6,10;DP=16;ECNT=6;GERMQ=82;MBQ=0,33;MFRL=0,0;MMQ=60,37;MPOS=64;POPAF=7.30;TLOD=54.65 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,16:0.917:16:0,4:0,6:0,10:0,0,6,10 -chr2 130231320 . G A . clustered_events;strand_bias;weak_evidence AS_FilterStatus=weak_evidence,strand_bias;AS_SB_TABLE=0,0|1,3;DP=7;ECNT=6;GERMQ=47;MBQ=0,32;MFRL=0,0;MMQ=60,40;MPOS=125;POPAF=7.30;TLOD=11.62 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.819:4:0,2:0,1:0,3:0,0,1,3 -chr2 131442793 . T C . clustered_events;haplotype;strand_bias AS_FilterStatus=strand_bias;AS_SB_TABLE=0,0|1,2;DP=3;ECNT=6;GERMQ=44;MBQ=0,34;MFRL=0,0;MMQ=60,49;MPOS=78;POPAF=7.30;TLOD=13.02 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.750:3:0,1:0,1:0,2:0|1:131442793_T_C:131442793:0,0,1,2 -chr2 131442797 . C G . clustered_events;haplotype;strand_bias AS_FilterStatus=strand_bias;AS_SB_TABLE=0,0|1,2;DP=3;ECNT=6;GERMQ=44;MBQ=0,34;MFRL=0,0;MMQ=60,49;MPOS=74;POPAF=7.30;TLOD=13.02 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.750:3:0,1:0,1:0,2:0|1:131442793_T_C:131442793:0,0,1,2 -chr2 131442810 . C T . clustered_events;haplotype;strand_bias AS_FilterStatus=strand_bias;AS_SB_TABLE=0,0|1,2;DP=3;ECNT=6;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,49;MPOS=61;POPAF=7.30;TLOD=13.02 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.750:3:0,1:0,1:0,2:0|1:131442793_T_C:131442793:0,0,1,2 -chr2 131442829 . C T . clustered_events;haplotype;strand_bias AS_FilterStatus=strand_bias;AS_SB_TABLE=0,0|1,2;DP=3;ECNT=6;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,49;MPOS=42;POPAF=7.30;TLOD=13.02 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.750:3:0,1:0,1:0,2:0|1:131442793_T_C:131442793:0,0,1,2 -chr2 131442842 . T C . clustered_events;haplotype;strand_bias AS_FilterStatus=strand_bias;AS_SB_TABLE=0,0|1,2;DP=3;ECNT=6;GERMQ=44;MBQ=0,34;MFRL=0,0;MMQ=60,49;MPOS=29;POPAF=7.30;TLOD=13.02 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.750:3:0,1:0,1:0,2:0|1:131442793_T_C:131442793:0,0,1,2 -chr2 131442846 . A G . clustered_events;haplotype;strand_bias AS_FilterStatus=strand_bias;AS_SB_TABLE=0,0|1,2;DP=3;ECNT=6;GERMQ=44;MBQ=0,33;MFRL=0,0;MMQ=60,49;MPOS=25;POPAF=7.30;TLOD=13.02 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,3:0.750:3:0,1:0,1:0,2:0|1:131442793_T_C:131442793:0,0,1,2 -chr2 131443009 . A G . clustered_events;map_qual;strand_bias;weak_evidence AS_FilterStatus=weak_evidence,map_qual,strand_bias;AS_SB_TABLE=0,0|3,1;DP=5;ECNT=9;GERMQ=47;MBQ=0,32;MFRL=0,0;MMQ=60,28;MPOS=125;POPAF=7.30;TLOD=12.41 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,4:0.833:4:0,1:0,3:0,4:0,0,3,1 -chr2 131443024 . A G . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0,0|3,3;DP=9;ECNT=9;GERMQ=53;MBQ=0,34;MFRL=0,0;MMQ=60,28;MPOS=110;POPAF=7.30;TLOD=19.15 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,6:0.864:6:0,2:0,3:0,5:0,0,3,3 -chr2 131443048 . G A . clustered_events;strand_bias;weak_evidence AS_FilterStatus=weak_evidence,strand_bias;AS_SB_TABLE=2,5|1,1;DP=9;ECNT=9;GERMQ=27;MBQ=33,33;MFRL=0,0;MMQ=29,38;MPOS=106;POPAF=7.30;TLOD=5.33 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,2:0.250:9:3,0:2,1:5,1:2,5,1,1 -chr2 131443052 . G T . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0,0|3,6;DP=9;ECNT=9;GERMQ=62;MBQ=0,33;MFRL=0,0;MMQ=60,29;MPOS=105;POPAF=7.30;TLOD=32.74 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,9:0.875:9:0,3:0,3:0,6:0,0,3,6 -chr2 131443065 . A C . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0,0|3,6;DP=9;ECNT=9;GERMQ=62;MBQ=0,32;MFRL=0,0;MMQ=60,29;MPOS=92;POPAF=7.30;TLOD=30.67 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,9:0.875:9:0,3:0,3:0,6:0,0,3,6 -chr2 131443078 . G C . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0,0|3,6;DP=9;ECNT=9;GERMQ=62;MBQ=0,35;MFRL=0,0;MMQ=60,29;MPOS=79;POPAF=7.30;TLOD=31.10 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,9:0.875:9:0,3:0,3:0,6:0,0,3,6 -chr2 131443100 . G C . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0,0|3,6;DP=9;ECNT=9;GERMQ=62;MBQ=0,34;MFRL=0,0;MMQ=60,29;MPOS=57;POPAF=7.30;TLOD=31.07 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,9:0.875:9:0,3:0,3:0,6:0,0,3,6 -chr2 131443144 . G A . clustered_events;haplotype;strand_bias AS_FilterStatus=strand_bias;AS_SB_TABLE=0,0|0,5;DP=5;ECNT=9;GERMQ=50;MBQ=0,32;MFRL=0,0;MMQ=60,32;MPOS=28;POPAF=7.30;TLOD=21.72 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,5:0.857:5:0,2:0,0:0,5:0|1:131443144_G_A:131443144:0,0,0,5 -chr2 131443146 . T G . clustered_events;haplotype;strand_bias AS_FilterStatus=strand_bias;AS_SB_TABLE=0,0|0,5;DP=5;ECNT=9;GERMQ=50;MBQ=0,35;MFRL=0,0;MMQ=60,32;MPOS=26;POPAF=7.30;TLOD=21.72 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,5:0.857:5:0,2:0,0:0,5:0|1:131443144_G_A:131443144:0,0,0,5 -chr2 131443797 . C G . clustered_events;haplotype;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=4;GERMQ=41;MBQ=0,33;MFRL=0,0;MMQ=60,47;MPOS=132;POPAF=7.30;TLOD=8.70 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,2:0.667:2:0,0:0,1:0,1:0|1:131443797_C_G:131443797:0,0,1,1 -chr2 131443801 . G A . clustered_events;haplotype;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=4;GERMQ=41;MBQ=0,33;MFRL=0,0;MMQ=60,47;MPOS=128;POPAF=7.30;TLOD=8.70 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,2:0.667:2:0,0:0,1:0,1:0|1:131443797_C_G:131443797:0,0,1,1 -chr2 131443807 . G A . clustered_events;haplotype;weak_evidence AS_FilterStatus=weak_evidence;AS_SB_TABLE=0,0|0,0;DP=4;ECNT=4;GERMQ=41;MBQ=0,33;MFRL=0,0;MMQ=60,47;MPOS=122;POPAF=7.30;TLOD=8.63 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,2:0.684:2:0,0:0,1:0,1:0|1:131443797_C_G:131443797:0,0,1,1 -chr2 131443869 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,0|4,3;DP=7;ECNT=4;GERMQ=56;MBQ=0,32;MFRL=0,0;MMQ=60,47;MPOS=60;POPAF=7.30;TLOD=21.83 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,7:0.833:7:0,0:0,4:0,4:0,0,4,3 -chr2 131443961 . G A . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0,0|9,6;DP=15;ECNT=4;GERMQ=79;MBQ=0,33;MFRL=0,0;MMQ=60,34;MPOS=76;POPAF=7.30;TLOD=66.50 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,15:0.909:15:0,0:0,9:0,9:0|1:131443961_G_A:131443961:0,0,9,6 -chr2 131443973 . T A . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0,0|9,6;DP=15;ECNT=4;GERMQ=79;MBQ=0,33;MFRL=0,0;MMQ=60,34;MPOS=64;POPAF=7.30;TLOD=66.50 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,15:0.909:15:0,0:0,9:0,9:0|1:131443961_G_A:131443961:0,0,9,6 -chr2 131444000 . A G . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0,0|7,5;DP=12;ECNT=4;GERMQ=70;MBQ=0,34;MFRL=0,0;MMQ=60,38;MPOS=51;POPAF=7.30;TLOD=53.10 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,12:0.889:12:0,0:0,7:0,7:0|1:131444000_A_G:131444000:0,0,7,5 -chr2 131444009 . A G . clustered_events;haplotype AS_FilterStatus=SITE;AS_SB_TABLE=0,0|7,5;DP=12;ECNT=4;GERMQ=70;MBQ=0,34;MFRL=0,0;MMQ=60,38;MPOS=42;POPAF=7.30;TLOD=53.10 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:0,12:0.889:12:0,0:0,6:0,7:0|1:131444000_A_G:131444000:0,0,7,5 diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr2_flt.vcf.filteringStats.tsv b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr2_flt.vcf.filteringStats.tsv deleted file mode 100644 index 36a268a..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr2_flt.vcf.filteringStats.tsv +++ /dev/null @@ -1,32 +0,0 @@ -#Ln prior of deletion of length 10=-20.72326583694641 -#Ln prior of deletion of length 9=-20.72326583694641 -#Ln prior of deletion of length 8=-20.72326583694641 -#Ln prior of deletion of length 7=-20.72326583694641 -#Ln prior of deletion of length 6=-20.72326583694641 -#Ln prior of deletion of length 5=-20.72326583694641 -#Ln prior of deletion of length 4=-20.72326583694641 -#Ln prior of deletion of length 3=-20.72326583694641 -#Ln prior of deletion of length 2=-20.72326583694641 -#Ln prior of deletion of length 1=-20.72326583694641 -#Ln prior of SNV=-6.842683282295274 -#Ln prior of insertion of length 1=-20.72326583694641 -#Ln prior of insertion of length 2=-20.72326583694641 -#Ln prior of insertion of length 3=-20.72326583694641 -#Ln prior of insertion of length 4=-20.72326583694641 -#Ln prior of insertion of length 5=-20.72326583694641 -#Ln prior of insertion of length 6=-20.72326583694641 -#Ln prior of insertion of length 7=-20.72326583694641 -#Ln prior of insertion of length 8=-20.72326583694641 -#Ln prior of insertion of length 9=-20.72326583694641 -#Ln prior of insertion of length 10=-20.72326583694641 -#Background beta-binomial cluster=weight = 0.1268, alpha = 1.06, beta = 0.80 -#High-AF beta-binomial cluster=weight = 0.1384, alpha = 10.02, beta = 0.52 -#Binomial cluster=weight = 0.1470, mean = 0.990 -#Binomial cluster=weight = 0.1470, mean = 0.990 -#Binomial cluster=weight = 0.1470, mean = 0.990 -#Binomial cluster=weight = 0.1470, mean = 0.990 -#Binomial cluster=weight = 0.1470, mean = 0.990 -#threshold=0.0 -#fdr=0.0 -#sensitivity=0.0 -filter FP FDR FN FNR diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr2_flt.vcf.gz b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr2_flt.vcf.gz deleted file mode 100644 index f8b4876..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr2_flt.vcf.gz and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr2_flt.vcf.gz.tbi b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr2_flt.vcf.gz.tbi deleted file mode 100644 index ec778c5..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr2_flt.vcf.gz.tbi and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr2_flt.vcf.idx b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr2_flt.vcf.idx deleted file mode 100644 index a104856..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr2_flt.vcf.idx and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr3.vcf b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr3.vcf deleted file mode 100644 index 98ed5bd..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr3.vcf +++ /dev/null @@ -1,69 +0,0 @@ -##fileformat=VCFv4.2 -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##GATKCommandLine= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##MutectVersion=2.2 -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##filtering_status=Warning: unfiltered Mutect 2 calls. Please run FilterMutectCalls to remove false positives. -##source=Mutect2 -##tumor_sample=unknown -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT unknown diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr3.vcf.idx b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr3.vcf.idx deleted file mode 100644 index 32f3d72..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr3.vcf.idx and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr3.vcf.stats b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr3.vcf.stats deleted file mode 100644 index 4f62813..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr3.vcf.stats +++ /dev/null @@ -1,2 +0,0 @@ -statistic value -callable 0.0 diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr3_flt.vcf b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr3_flt.vcf deleted file mode 100644 index 46dbdfc..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr3_flt.vcf +++ /dev/null @@ -1,94 +0,0 @@ -##fileformat=VCFv4.2 -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##GATKCommandLine= -##GATKCommandLine= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##MutectVersion=2.2 -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##filtering_status=These calls have been filtered by FilterMutectCalls to label false positives with a list of failed filters and true positives with PASS. -##source=FilterMutectCalls -##source=Mutect2 -##tumor_sample=unknown -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT unknown diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr3_flt.vcf.filteringStats.tsv b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr3_flt.vcf.filteringStats.tsv deleted file mode 100644 index 89fafef..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr3_flt.vcf.filteringStats.tsv +++ /dev/null @@ -1,27 +0,0 @@ -#Ln prior of deletion of length 10=-16.11809565095832 -#Ln prior of deletion of length 9=-16.11809565095832 -#Ln prior of deletion of length 8=-16.11809565095832 -#Ln prior of deletion of length 7=-16.11809565095832 -#Ln prior of deletion of length 6=-16.11809565095832 -#Ln prior of deletion of length 5=-16.11809565095832 -#Ln prior of deletion of length 4=-16.11809565095832 -#Ln prior of deletion of length 3=-16.11809565095832 -#Ln prior of deletion of length 2=-16.11809565095832 -#Ln prior of deletion of length 1=-16.11809565095832 -#Ln prior of SNV=-13.815510557964275 -#Ln prior of insertion of length 1=-16.11809565095832 -#Ln prior of insertion of length 2=-16.11809565095832 -#Ln prior of insertion of length 3=-16.11809565095832 -#Ln prior of insertion of length 4=-16.11809565095832 -#Ln prior of insertion of length 5=-16.11809565095832 -#Ln prior of insertion of length 6=-16.11809565095832 -#Ln prior of insertion of length 7=-16.11809565095832 -#Ln prior of insertion of length 8=-16.11809565095832 -#Ln prior of insertion of length 9=-16.11809565095832 -#Ln prior of insertion of length 10=-16.11809565095832 -#Background beta-binomial cluster=weight = 0.5000, alpha = 1.00, beta = 1.00 -#High-AF beta-binomial cluster=weight = 0.5000, alpha = 10.00, beta = 1.00 -#threshold=0.0 -#fdr=0.0 -#sensitivity=0.0 -filter FP FDR FN FNR diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr3_flt.vcf.gz b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr3_flt.vcf.gz deleted file mode 100644 index b29a4df..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr3_flt.vcf.gz and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr3_flt.vcf.gz.tbi b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr3_flt.vcf.gz.tbi deleted file mode 100644 index b9e0990..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr3_flt.vcf.gz.tbi and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr3_flt.vcf.idx b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr3_flt.vcf.idx deleted file mode 100644 index 50331a7..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr3_flt.vcf.idx and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr4.vcf b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr4.vcf deleted file mode 100644 index 01861e6..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr4.vcf +++ /dev/null @@ -1,69 +0,0 @@ -##fileformat=VCFv4.2 -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##GATKCommandLine= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##MutectVersion=2.2 -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##filtering_status=Warning: unfiltered Mutect 2 calls. Please run FilterMutectCalls to remove false positives. -##source=Mutect2 -##tumor_sample=unknown -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT unknown diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr4.vcf.idx b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr4.vcf.idx deleted file mode 100644 index bae5b28..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr4.vcf.idx and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr4.vcf.stats b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr4.vcf.stats deleted file mode 100644 index 4f62813..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr4.vcf.stats +++ /dev/null @@ -1,2 +0,0 @@ -statistic value -callable 0.0 diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr4_flt.vcf b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr4_flt.vcf deleted file mode 100644 index 11d8ed3..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr4_flt.vcf +++ /dev/null @@ -1,94 +0,0 @@ -##fileformat=VCFv4.2 -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##GATKCommandLine= -##GATKCommandLine= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##MutectVersion=2.2 -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##filtering_status=These calls have been filtered by FilterMutectCalls to label false positives with a list of failed filters and true positives with PASS. -##source=FilterMutectCalls -##source=Mutect2 -##tumor_sample=unknown -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT unknown diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr4_flt.vcf.filteringStats.tsv b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr4_flt.vcf.filteringStats.tsv deleted file mode 100644 index 89fafef..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr4_flt.vcf.filteringStats.tsv +++ /dev/null @@ -1,27 +0,0 @@ -#Ln prior of deletion of length 10=-16.11809565095832 -#Ln prior of deletion of length 9=-16.11809565095832 -#Ln prior of deletion of length 8=-16.11809565095832 -#Ln prior of deletion of length 7=-16.11809565095832 -#Ln prior of deletion of length 6=-16.11809565095832 -#Ln prior of deletion of length 5=-16.11809565095832 -#Ln prior of deletion of length 4=-16.11809565095832 -#Ln prior of deletion of length 3=-16.11809565095832 -#Ln prior of deletion of length 2=-16.11809565095832 -#Ln prior of deletion of length 1=-16.11809565095832 -#Ln prior of SNV=-13.815510557964275 -#Ln prior of insertion of length 1=-16.11809565095832 -#Ln prior of insertion of length 2=-16.11809565095832 -#Ln prior of insertion of length 3=-16.11809565095832 -#Ln prior of insertion of length 4=-16.11809565095832 -#Ln prior of insertion of length 5=-16.11809565095832 -#Ln prior of insertion of length 6=-16.11809565095832 -#Ln prior of insertion of length 7=-16.11809565095832 -#Ln prior of insertion of length 8=-16.11809565095832 -#Ln prior of insertion of length 9=-16.11809565095832 -#Ln prior of insertion of length 10=-16.11809565095832 -#Background beta-binomial cluster=weight = 0.5000, alpha = 1.00, beta = 1.00 -#High-AF beta-binomial cluster=weight = 0.5000, alpha = 10.00, beta = 1.00 -#threshold=0.0 -#fdr=0.0 -#sensitivity=0.0 -filter FP FDR FN FNR diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr4_flt.vcf.gz b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr4_flt.vcf.gz deleted file mode 100644 index c1b1291..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr4_flt.vcf.gz and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr4_flt.vcf.gz.tbi b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr4_flt.vcf.gz.tbi deleted file mode 100644 index b9e0990..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr4_flt.vcf.gz.tbi and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr4_flt.vcf.idx b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr4_flt.vcf.idx deleted file mode 100644 index d693626..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr4_flt.vcf.idx and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr5.vcf b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr5.vcf deleted file mode 100644 index 854a7ec..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr5.vcf +++ /dev/null @@ -1,69 +0,0 @@ -##fileformat=VCFv4.2 -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##GATKCommandLine= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##MutectVersion=2.2 -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##filtering_status=Warning: unfiltered Mutect 2 calls. Please run FilterMutectCalls to remove false positives. -##source=Mutect2 -##tumor_sample=unknown -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT unknown diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr5.vcf.idx b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr5.vcf.idx deleted file mode 100644 index 4ae1979..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr5.vcf.idx and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr5.vcf.stats b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr5.vcf.stats deleted file mode 100644 index 4f62813..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr5.vcf.stats +++ /dev/null @@ -1,2 +0,0 @@ -statistic value -callable 0.0 diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr5_flt.vcf b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr5_flt.vcf deleted file mode 100644 index 6a1ac01..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr5_flt.vcf +++ /dev/null @@ -1,94 +0,0 @@ -##fileformat=VCFv4.2 -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##GATKCommandLine= -##GATKCommandLine= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##MutectVersion=2.2 -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##filtering_status=These calls have been filtered by FilterMutectCalls to label false positives with a list of failed filters and true positives with PASS. -##source=FilterMutectCalls -##source=Mutect2 -##tumor_sample=unknown -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT unknown diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr5_flt.vcf.filteringStats.tsv b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr5_flt.vcf.filteringStats.tsv deleted file mode 100644 index 89fafef..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr5_flt.vcf.filteringStats.tsv +++ /dev/null @@ -1,27 +0,0 @@ -#Ln prior of deletion of length 10=-16.11809565095832 -#Ln prior of deletion of length 9=-16.11809565095832 -#Ln prior of deletion of length 8=-16.11809565095832 -#Ln prior of deletion of length 7=-16.11809565095832 -#Ln prior of deletion of length 6=-16.11809565095832 -#Ln prior of deletion of length 5=-16.11809565095832 -#Ln prior of deletion of length 4=-16.11809565095832 -#Ln prior of deletion of length 3=-16.11809565095832 -#Ln prior of deletion of length 2=-16.11809565095832 -#Ln prior of deletion of length 1=-16.11809565095832 -#Ln prior of SNV=-13.815510557964275 -#Ln prior of insertion of length 1=-16.11809565095832 -#Ln prior of insertion of length 2=-16.11809565095832 -#Ln prior of insertion of length 3=-16.11809565095832 -#Ln prior of insertion of length 4=-16.11809565095832 -#Ln prior of insertion of length 5=-16.11809565095832 -#Ln prior of insertion of length 6=-16.11809565095832 -#Ln prior of insertion of length 7=-16.11809565095832 -#Ln prior of insertion of length 8=-16.11809565095832 -#Ln prior of insertion of length 9=-16.11809565095832 -#Ln prior of insertion of length 10=-16.11809565095832 -#Background beta-binomial cluster=weight = 0.5000, alpha = 1.00, beta = 1.00 -#High-AF beta-binomial cluster=weight = 0.5000, alpha = 10.00, beta = 1.00 -#threshold=0.0 -#fdr=0.0 -#sensitivity=0.0 -filter FP FDR FN FNR diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr5_flt.vcf.gz b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr5_flt.vcf.gz deleted file mode 100644 index 7991555..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr5_flt.vcf.gz and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr5_flt.vcf.gz.tbi b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr5_flt.vcf.gz.tbi deleted file mode 100644 index b9e0990..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr5_flt.vcf.gz.tbi and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr5_flt.vcf.idx b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr5_flt.vcf.idx deleted file mode 100644 index b6a950a..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr5_flt.vcf.idx and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr6.vcf b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr6.vcf deleted file mode 100644 index 801be6f..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr6.vcf +++ /dev/null @@ -1,69 +0,0 @@ -##fileformat=VCFv4.2 -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##GATKCommandLine= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##MutectVersion=2.2 -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##filtering_status=Warning: unfiltered Mutect 2 calls. Please run FilterMutectCalls to remove false positives. -##source=Mutect2 -##tumor_sample=unknown -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT unknown diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr6.vcf.idx b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr6.vcf.idx deleted file mode 100644 index b5acb87..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr6.vcf.idx and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr6.vcf.stats b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr6.vcf.stats deleted file mode 100644 index 4f62813..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr6.vcf.stats +++ /dev/null @@ -1,2 +0,0 @@ -statistic value -callable 0.0 diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr6_flt.vcf b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr6_flt.vcf deleted file mode 100644 index a2c2fa1..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr6_flt.vcf +++ /dev/null @@ -1,94 +0,0 @@ -##fileformat=VCFv4.2 -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##GATKCommandLine= -##GATKCommandLine= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##MutectVersion=2.2 -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##filtering_status=These calls have been filtered by FilterMutectCalls to label false positives with a list of failed filters and true positives with PASS. -##source=FilterMutectCalls -##source=Mutect2 -##tumor_sample=unknown -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT unknown diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr6_flt.vcf.filteringStats.tsv b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr6_flt.vcf.filteringStats.tsv deleted file mode 100644 index 89fafef..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr6_flt.vcf.filteringStats.tsv +++ /dev/null @@ -1,27 +0,0 @@ -#Ln prior of deletion of length 10=-16.11809565095832 -#Ln prior of deletion of length 9=-16.11809565095832 -#Ln prior of deletion of length 8=-16.11809565095832 -#Ln prior of deletion of length 7=-16.11809565095832 -#Ln prior of deletion of length 6=-16.11809565095832 -#Ln prior of deletion of length 5=-16.11809565095832 -#Ln prior of deletion of length 4=-16.11809565095832 -#Ln prior of deletion of length 3=-16.11809565095832 -#Ln prior of deletion of length 2=-16.11809565095832 -#Ln prior of deletion of length 1=-16.11809565095832 -#Ln prior of SNV=-13.815510557964275 -#Ln prior of insertion of length 1=-16.11809565095832 -#Ln prior of insertion of length 2=-16.11809565095832 -#Ln prior of insertion of length 3=-16.11809565095832 -#Ln prior of insertion of length 4=-16.11809565095832 -#Ln prior of insertion of length 5=-16.11809565095832 -#Ln prior of insertion of length 6=-16.11809565095832 -#Ln prior of insertion of length 7=-16.11809565095832 -#Ln prior of insertion of length 8=-16.11809565095832 -#Ln prior of insertion of length 9=-16.11809565095832 -#Ln prior of insertion of length 10=-16.11809565095832 -#Background beta-binomial cluster=weight = 0.5000, alpha = 1.00, beta = 1.00 -#High-AF beta-binomial cluster=weight = 0.5000, alpha = 10.00, beta = 1.00 -#threshold=0.0 -#fdr=0.0 -#sensitivity=0.0 -filter FP FDR FN FNR diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr6_flt.vcf.gz b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr6_flt.vcf.gz deleted file mode 100644 index 5647f25..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr6_flt.vcf.gz and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr6_flt.vcf.gz.tbi b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr6_flt.vcf.gz.tbi deleted file mode 100644 index b9e0990..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr6_flt.vcf.gz.tbi and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr6_flt.vcf.idx b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr6_flt.vcf.idx deleted file mode 100644 index a6fb15e..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr6_flt.vcf.idx and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr7.vcf b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr7.vcf deleted file mode 100644 index 1196f07..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr7.vcf +++ /dev/null @@ -1,69 +0,0 @@ -##fileformat=VCFv4.2 -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##GATKCommandLine= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##MutectVersion=2.2 -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##filtering_status=Warning: unfiltered Mutect 2 calls. Please run FilterMutectCalls to remove false positives. -##source=Mutect2 -##tumor_sample=unknown -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT unknown diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr7.vcf.idx b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr7.vcf.idx deleted file mode 100644 index 07c5424..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr7.vcf.idx and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr7.vcf.stats b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr7.vcf.stats deleted file mode 100644 index 4f62813..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr7.vcf.stats +++ /dev/null @@ -1,2 +0,0 @@ -statistic value -callable 0.0 diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr7_flt.vcf b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr7_flt.vcf deleted file mode 100644 index aa62edc..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr7_flt.vcf +++ /dev/null @@ -1,94 +0,0 @@ -##fileformat=VCFv4.2 -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##GATKCommandLine= -##GATKCommandLine= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##MutectVersion=2.2 -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##filtering_status=These calls have been filtered by FilterMutectCalls to label false positives with a list of failed filters and true positives with PASS. -##source=FilterMutectCalls -##source=Mutect2 -##tumor_sample=unknown -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT unknown diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr7_flt.vcf.filteringStats.tsv b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr7_flt.vcf.filteringStats.tsv deleted file mode 100644 index 89fafef..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr7_flt.vcf.filteringStats.tsv +++ /dev/null @@ -1,27 +0,0 @@ -#Ln prior of deletion of length 10=-16.11809565095832 -#Ln prior of deletion of length 9=-16.11809565095832 -#Ln prior of deletion of length 8=-16.11809565095832 -#Ln prior of deletion of length 7=-16.11809565095832 -#Ln prior of deletion of length 6=-16.11809565095832 -#Ln prior of deletion of length 5=-16.11809565095832 -#Ln prior of deletion of length 4=-16.11809565095832 -#Ln prior of deletion of length 3=-16.11809565095832 -#Ln prior of deletion of length 2=-16.11809565095832 -#Ln prior of deletion of length 1=-16.11809565095832 -#Ln prior of SNV=-13.815510557964275 -#Ln prior of insertion of length 1=-16.11809565095832 -#Ln prior of insertion of length 2=-16.11809565095832 -#Ln prior of insertion of length 3=-16.11809565095832 -#Ln prior of insertion of length 4=-16.11809565095832 -#Ln prior of insertion of length 5=-16.11809565095832 -#Ln prior of insertion of length 6=-16.11809565095832 -#Ln prior of insertion of length 7=-16.11809565095832 -#Ln prior of insertion of length 8=-16.11809565095832 -#Ln prior of insertion of length 9=-16.11809565095832 -#Ln prior of insertion of length 10=-16.11809565095832 -#Background beta-binomial cluster=weight = 0.5000, alpha = 1.00, beta = 1.00 -#High-AF beta-binomial cluster=weight = 0.5000, alpha = 10.00, beta = 1.00 -#threshold=0.0 -#fdr=0.0 -#sensitivity=0.0 -filter FP FDR FN FNR diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr7_flt.vcf.gz b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr7_flt.vcf.gz deleted file mode 100644 index 6c44810..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr7_flt.vcf.gz and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr7_flt.vcf.gz.tbi b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr7_flt.vcf.gz.tbi deleted file mode 100644 index b9e0990..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr7_flt.vcf.gz.tbi and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr7_flt.vcf.idx b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr7_flt.vcf.idx deleted file mode 100644 index 0704275..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr7_flt.vcf.idx and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr8.vcf b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr8.vcf deleted file mode 100644 index 200dd0b..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr8.vcf +++ /dev/null @@ -1,72 +0,0 @@ -##fileformat=VCFv4.2 -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##GATKCommandLine= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##MutectVersion=2.2 -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##filtering_status=Warning: unfiltered Mutect 2 calls. Please run FilterMutectCalls to remove false positives. -##source=Mutect2 -##tumor_sample=unknown -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT unknown -chr8 213370 . C G . . AS_SB_TABLE=0,0|0,0;DP=2;ECNT=3;MBQ=0,35;MFRL=0,0;MMQ=60,22;MPOS=73;POPAF=7.30;TLOD=5.05 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr8 213387 . C T . . AS_SB_TABLE=0,0|0,0;DP=2;ECNT=3;MBQ=0,33;MFRL=0,0;MMQ=60,22;MPOS=56;POPAF=7.30;TLOD=5.05 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr8 213438 . C T . . AS_SB_TABLE=0,0|0,0;DP=2;ECNT=3;MBQ=0,32;MFRL=0,0;MMQ=60,22;MPOS=5;POPAF=7.30;TLOD=5.05 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr8.vcf.idx b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr8.vcf.idx deleted file mode 100644 index 37eb7cc..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr8.vcf.idx and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr8.vcf.stats b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr8.vcf.stats deleted file mode 100644 index 4e5876c..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr8.vcf.stats +++ /dev/null @@ -1,2 +0,0 @@ -statistic value -callable 7.0 diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr8_flt.vcf b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr8_flt.vcf deleted file mode 100644 index 5007ccc..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr8_flt.vcf +++ /dev/null @@ -1,97 +0,0 @@ -##fileformat=VCFv4.2 -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##GATKCommandLine= -##GATKCommandLine= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##MutectVersion=2.2 -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##filtering_status=These calls have been filtered by FilterMutectCalls to label false positives with a list of failed filters and true positives with PASS. -##source=FilterMutectCalls -##source=Mutect2 -##tumor_sample=unknown -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT unknown -chr8 213370 . C G . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=3;GERMQ=1;MBQ=0,35;MFRL=0,0;MMQ=60,22;MPOS=73;POPAF=7.30;TLOD=5.05 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr8 213387 . C T . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=3;GERMQ=1;MBQ=0,33;MFRL=0,0;MMQ=60,22;MPOS=56;POPAF=7.30;TLOD=5.05 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 -chr8 213438 . C T . clustered_events;map_qual AS_FilterStatus=map_qual;AS_SB_TABLE=0,0|0,0;DP=2;ECNT=3;GERMQ=1;MBQ=0,32;MFRL=0,0;MMQ=60,22;MPOS=5;POPAF=7.30;TLOD=5.05 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:0,2:0.667:2:0,0:0,1:0,1:0,0,1,1 diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr8_flt.vcf.filteringStats.tsv b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr8_flt.vcf.filteringStats.tsv deleted file mode 100644 index 9f6c521..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr8_flt.vcf.filteringStats.tsv +++ /dev/null @@ -1,27 +0,0 @@ -#Ln prior of deletion of length 10=-20.72326583694641 -#Ln prior of deletion of length 9=-20.72326583694641 -#Ln prior of deletion of length 8=-20.72326583694641 -#Ln prior of deletion of length 7=-20.72326583694641 -#Ln prior of deletion of length 6=-20.72326583694641 -#Ln prior of deletion of length 5=-20.72326583694641 -#Ln prior of deletion of length 4=-20.72326583694641 -#Ln prior of deletion of length 3=-20.72326583694641 -#Ln prior of deletion of length 2=-20.72326583694641 -#Ln prior of deletion of length 1=-20.72326583694641 -#Ln prior of SNV=-18.420680743952367 -#Ln prior of insertion of length 1=-20.72326583694641 -#Ln prior of insertion of length 2=-20.72326583694641 -#Ln prior of insertion of length 3=-20.72326583694641 -#Ln prior of insertion of length 4=-20.72326583694641 -#Ln prior of insertion of length 5=-20.72326583694641 -#Ln prior of insertion of length 6=-20.72326583694641 -#Ln prior of insertion of length 7=-20.72326583694641 -#Ln prior of insertion of length 8=-20.72326583694641 -#Ln prior of insertion of length 9=-20.72326583694641 -#Ln prior of insertion of length 10=-20.72326583694641 -#Background beta-binomial cluster=weight = 0.5000, alpha = 1.00, beta = 1.00 -#High-AF beta-binomial cluster=weight = 0.5000, alpha = 10.00, beta = 1.00 -#threshold=1.0 -#fdr=0.0 -#sensitivity=0.0 -filter FP FDR FN FNR diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr8_flt.vcf.gz b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr8_flt.vcf.gz deleted file mode 100644 index 9218489..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr8_flt.vcf.gz and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr8_flt.vcf.gz.tbi b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr8_flt.vcf.gz.tbi deleted file mode 100644 index 01fdedb..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr8_flt.vcf.gz.tbi and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr8_flt.vcf.idx b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr8_flt.vcf.idx deleted file mode 100644 index cb3ef39..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr8_flt.vcf.idx and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr9.vcf b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr9.vcf deleted file mode 100644 index d0fd69e..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr9.vcf +++ /dev/null @@ -1,69 +0,0 @@ -##fileformat=VCFv4.2 -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##GATKCommandLine= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##MutectVersion=2.2 -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##filtering_status=Warning: unfiltered Mutect 2 calls. Please run FilterMutectCalls to remove false positives. -##source=Mutect2 -##tumor_sample=unknown -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT unknown diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr9.vcf.idx b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr9.vcf.idx deleted file mode 100644 index c3f3b6e..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr9.vcf.idx and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr9.vcf.stats b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr9.vcf.stats deleted file mode 100644 index 4f62813..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr9.vcf.stats +++ /dev/null @@ -1,2 +0,0 @@ -statistic value -callable 0.0 diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr9_flt.vcf b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr9_flt.vcf deleted file mode 100644 index fd46270..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr9_flt.vcf +++ /dev/null @@ -1,94 +0,0 @@ -##fileformat=VCFv4.2 -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##GATKCommandLine= -##GATKCommandLine= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##MutectVersion=2.2 -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##filtering_status=These calls have been filtered by FilterMutectCalls to label false positives with a list of failed filters and true positives with PASS. -##source=FilterMutectCalls -##source=Mutect2 -##tumor_sample=unknown -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT unknown diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr9_flt.vcf.filteringStats.tsv b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr9_flt.vcf.filteringStats.tsv deleted file mode 100644 index 89fafef..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr9_flt.vcf.filteringStats.tsv +++ /dev/null @@ -1,27 +0,0 @@ -#Ln prior of deletion of length 10=-16.11809565095832 -#Ln prior of deletion of length 9=-16.11809565095832 -#Ln prior of deletion of length 8=-16.11809565095832 -#Ln prior of deletion of length 7=-16.11809565095832 -#Ln prior of deletion of length 6=-16.11809565095832 -#Ln prior of deletion of length 5=-16.11809565095832 -#Ln prior of deletion of length 4=-16.11809565095832 -#Ln prior of deletion of length 3=-16.11809565095832 -#Ln prior of deletion of length 2=-16.11809565095832 -#Ln prior of deletion of length 1=-16.11809565095832 -#Ln prior of SNV=-13.815510557964275 -#Ln prior of insertion of length 1=-16.11809565095832 -#Ln prior of insertion of length 2=-16.11809565095832 -#Ln prior of insertion of length 3=-16.11809565095832 -#Ln prior of insertion of length 4=-16.11809565095832 -#Ln prior of insertion of length 5=-16.11809565095832 -#Ln prior of insertion of length 6=-16.11809565095832 -#Ln prior of insertion of length 7=-16.11809565095832 -#Ln prior of insertion of length 8=-16.11809565095832 -#Ln prior of insertion of length 9=-16.11809565095832 -#Ln prior of insertion of length 10=-16.11809565095832 -#Background beta-binomial cluster=weight = 0.5000, alpha = 1.00, beta = 1.00 -#High-AF beta-binomial cluster=weight = 0.5000, alpha = 10.00, beta = 1.00 -#threshold=0.0 -#fdr=0.0 -#sensitivity=0.0 -filter FP FDR FN FNR diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr9_flt.vcf.gz b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr9_flt.vcf.gz deleted file mode 100644 index 306468b..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr9_flt.vcf.gz and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr9_flt.vcf.gz.tbi b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr9_flt.vcf.gz.tbi deleted file mode 100644 index b9e0990..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr9_flt.vcf.gz.tbi and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr9_flt.vcf.idx b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr9_flt.vcf.idx deleted file mode 100644 index 823c51f..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chr9_flt.vcf.idx and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrMT.vcf b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrMT.vcf deleted file mode 100644 index 472e452..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrMT.vcf +++ /dev/null @@ -1,73 +0,0 @@ -##fileformat=VCFv4.2 -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##GATKCommandLine= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##MutectVersion=2.2 -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##filtering_status=Warning: unfiltered Mutect 2 calls. Please run FilterMutectCalls to remove false positives. -##source=Mutect2 -##tumor_sample=unknown -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT unknown -chrMT 9766 . C T . . AS_SB_TABLE=17,14|1,1;DP=33;ECNT=4;MBQ=34,33;MFRL=0,0;MMQ=41,36;MPOS=131;POPAF=7.30;TLOD=4.92 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:31,2:0.100:33:0,0:16,1:17,1:17,14,1,1 -chrMT 9771 . T C . . AS_SB_TABLE=16,13|1,1;DP=33;ECNT=4;MBQ=33,32;MFRL=0,0;MMQ=41,38;MPOS=121;POPAF=7.30;TLOD=4.86 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:29,2:0.104:31:0,0:16,1:16,1:16,13,1,1 -chrMT 9774 . G A . . AS_SB_TABLE=9,7|6,6;DP=31;ECNT=4;MBQ=32,33;MFRL=0,0;MMQ=42,41;MPOS=137;POPAF=7.30;TLOD=39.89 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:16,12:0.411:28:0,0:9,6:9,6:9,7,6,6 -chrMT 9780 . A G . . AS_SB_TABLE=0,1|1,1;DP=15;ECNT=4;MBQ=31,21;MFRL=0,0;MMQ=33,54;MPOS=141;POPAF=7.30;TLOD=3.34 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,2:0.500:3:0,0:0,0:1,1:0,1,1,1 diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrMT.vcf.idx b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrMT.vcf.idx deleted file mode 100644 index 9da2be3..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrMT.vcf.idx and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrMT.vcf.stats b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrMT.vcf.stats deleted file mode 100644 index d59a0ef..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrMT.vcf.stats +++ /dev/null @@ -1,2 +0,0 @@ -statistic value -callable 155.0 diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrMT_flt.vcf b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrMT_flt.vcf deleted file mode 100644 index 20df352..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrMT_flt.vcf +++ /dev/null @@ -1,98 +0,0 @@ -##fileformat=VCFv4.2 -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##GATKCommandLine= -##GATKCommandLine= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##MutectVersion=2.2 -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##filtering_status=These calls have been filtered by FilterMutectCalls to label false positives with a list of failed filters and true positives with PASS. -##source=FilterMutectCalls -##source=Mutect2 -##tumor_sample=unknown -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT unknown -chrMT 9766 . C T . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=17,14|1,1;DP=33;ECNT=4;GERMQ=39;MBQ=34,33;MFRL=0,0;MMQ=41,36;MPOS=131;POPAF=7.30;TLOD=4.92 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:31,2:0.100:33:0,0:16,1:17,1:17,14,1,1 -chrMT 9771 . T C . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=16,13|1,1;DP=33;ECNT=4;GERMQ=34;MBQ=33,32;MFRL=0,0;MMQ=41,38;MPOS=121;POPAF=7.30;TLOD=4.86 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:29,2:0.104:31:0,0:16,1:16,1:16,13,1,1 -chrMT 9774 . G A . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=9,7|6,6;DP=31;ECNT=4;GERMQ=1;MBQ=32,33;MFRL=0,0;MMQ=42,41;MPOS=137;POPAF=7.30;TLOD=39.89 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:16,12:0.411:28:0,0:9,6:9,6:9,7,6,6 -chrMT 9780 . A G . clustered_events AS_FilterStatus=SITE;AS_SB_TABLE=0,1|1,1;DP=15;ECNT=4;GERMQ=1;MBQ=31,21;MFRL=0,0;MMQ=33,54;MPOS=141;POPAF=7.30;TLOD=3.34 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:1,2:0.500:3:0,0:0,0:1,1:0,1,1,1 diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrMT_flt.vcf.filteringStats.tsv b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrMT_flt.vcf.filteringStats.tsv deleted file mode 100644 index 9f6c521..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrMT_flt.vcf.filteringStats.tsv +++ /dev/null @@ -1,27 +0,0 @@ -#Ln prior of deletion of length 10=-20.72326583694641 -#Ln prior of deletion of length 9=-20.72326583694641 -#Ln prior of deletion of length 8=-20.72326583694641 -#Ln prior of deletion of length 7=-20.72326583694641 -#Ln prior of deletion of length 6=-20.72326583694641 -#Ln prior of deletion of length 5=-20.72326583694641 -#Ln prior of deletion of length 4=-20.72326583694641 -#Ln prior of deletion of length 3=-20.72326583694641 -#Ln prior of deletion of length 2=-20.72326583694641 -#Ln prior of deletion of length 1=-20.72326583694641 -#Ln prior of SNV=-18.420680743952367 -#Ln prior of insertion of length 1=-20.72326583694641 -#Ln prior of insertion of length 2=-20.72326583694641 -#Ln prior of insertion of length 3=-20.72326583694641 -#Ln prior of insertion of length 4=-20.72326583694641 -#Ln prior of insertion of length 5=-20.72326583694641 -#Ln prior of insertion of length 6=-20.72326583694641 -#Ln prior of insertion of length 7=-20.72326583694641 -#Ln prior of insertion of length 8=-20.72326583694641 -#Ln prior of insertion of length 9=-20.72326583694641 -#Ln prior of insertion of length 10=-20.72326583694641 -#Background beta-binomial cluster=weight = 0.5000, alpha = 1.00, beta = 1.00 -#High-AF beta-binomial cluster=weight = 0.5000, alpha = 10.00, beta = 1.00 -#threshold=1.0 -#fdr=0.0 -#sensitivity=0.0 -filter FP FDR FN FNR diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrMT_flt.vcf.gz b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrMT_flt.vcf.gz deleted file mode 100644 index 90d0529..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrMT_flt.vcf.gz and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrMT_flt.vcf.gz.tbi b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrMT_flt.vcf.gz.tbi deleted file mode 100644 index 200da40..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrMT_flt.vcf.gz.tbi and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrMT_flt.vcf.idx b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrMT_flt.vcf.idx deleted file mode 100644 index a0c05f6..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrMT_flt.vcf.idx and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrX.vcf b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrX.vcf deleted file mode 100644 index 474af91..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrX.vcf +++ /dev/null @@ -1,69 +0,0 @@ -##fileformat=VCFv4.2 -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##GATKCommandLine= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##MutectVersion=2.2 -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##filtering_status=Warning: unfiltered Mutect 2 calls. Please run FilterMutectCalls to remove false positives. -##source=Mutect2 -##tumor_sample=unknown -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT unknown diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrX.vcf.idx b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrX.vcf.idx deleted file mode 100644 index 9e99e28..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrX.vcf.idx and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrX.vcf.stats b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrX.vcf.stats deleted file mode 100644 index 4f62813..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrX.vcf.stats +++ /dev/null @@ -1,2 +0,0 @@ -statistic value -callable 0.0 diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrX_flt.vcf b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrX_flt.vcf deleted file mode 100644 index 4952221..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrX_flt.vcf +++ /dev/null @@ -1,94 +0,0 @@ -##fileformat=VCFv4.2 -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##GATKCommandLine= -##GATKCommandLine= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##MutectVersion=2.2 -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##filtering_status=These calls have been filtered by FilterMutectCalls to label false positives with a list of failed filters and true positives with PASS. -##source=FilterMutectCalls -##source=Mutect2 -##tumor_sample=unknown -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT unknown diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrX_flt.vcf.filteringStats.tsv b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrX_flt.vcf.filteringStats.tsv deleted file mode 100644 index 89fafef..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrX_flt.vcf.filteringStats.tsv +++ /dev/null @@ -1,27 +0,0 @@ -#Ln prior of deletion of length 10=-16.11809565095832 -#Ln prior of deletion of length 9=-16.11809565095832 -#Ln prior of deletion of length 8=-16.11809565095832 -#Ln prior of deletion of length 7=-16.11809565095832 -#Ln prior of deletion of length 6=-16.11809565095832 -#Ln prior of deletion of length 5=-16.11809565095832 -#Ln prior of deletion of length 4=-16.11809565095832 -#Ln prior of deletion of length 3=-16.11809565095832 -#Ln prior of deletion of length 2=-16.11809565095832 -#Ln prior of deletion of length 1=-16.11809565095832 -#Ln prior of SNV=-13.815510557964275 -#Ln prior of insertion of length 1=-16.11809565095832 -#Ln prior of insertion of length 2=-16.11809565095832 -#Ln prior of insertion of length 3=-16.11809565095832 -#Ln prior of insertion of length 4=-16.11809565095832 -#Ln prior of insertion of length 5=-16.11809565095832 -#Ln prior of insertion of length 6=-16.11809565095832 -#Ln prior of insertion of length 7=-16.11809565095832 -#Ln prior of insertion of length 8=-16.11809565095832 -#Ln prior of insertion of length 9=-16.11809565095832 -#Ln prior of insertion of length 10=-16.11809565095832 -#Background beta-binomial cluster=weight = 0.5000, alpha = 1.00, beta = 1.00 -#High-AF beta-binomial cluster=weight = 0.5000, alpha = 10.00, beta = 1.00 -#threshold=0.0 -#fdr=0.0 -#sensitivity=0.0 -filter FP FDR FN FNR diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrX_flt.vcf.gz b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrX_flt.vcf.gz deleted file mode 100644 index d22fb07..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrX_flt.vcf.gz and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrX_flt.vcf.gz.tbi b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrX_flt.vcf.gz.tbi deleted file mode 100644 index b9e0990..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrX_flt.vcf.gz.tbi and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrX_flt.vcf.idx b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrX_flt.vcf.idx deleted file mode 100644 index 3ce1725..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrX_flt.vcf.idx and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrY.vcf b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrY.vcf deleted file mode 100644 index ea206d6..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrY.vcf +++ /dev/null @@ -1,69 +0,0 @@ -##fileformat=VCFv4.2 -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##GATKCommandLine= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##MutectVersion=2.2 -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##filtering_status=Warning: unfiltered Mutect 2 calls. Please run FilterMutectCalls to remove false positives. -##source=Mutect2 -##tumor_sample=unknown -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT unknown diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrY.vcf.idx b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrY.vcf.idx deleted file mode 100644 index 13c6e44..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrY.vcf.idx and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrY.vcf.stats b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrY.vcf.stats deleted file mode 100644 index 4f62813..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrY.vcf.stats +++ /dev/null @@ -1,2 +0,0 @@ -statistic value -callable 0.0 diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrY_flt.vcf b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrY_flt.vcf deleted file mode 100644 index c92d569..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrY_flt.vcf +++ /dev/null @@ -1,94 +0,0 @@ -##fileformat=VCFv4.2 -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##GATKCommandLine= -##GATKCommandLine= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##MutectVersion=2.2 -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##filtering_status=These calls have been filtered by FilterMutectCalls to label false positives with a list of failed filters and true positives with PASS. -##source=FilterMutectCalls -##source=Mutect2 -##tumor_sample=unknown -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT unknown diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrY_flt.vcf.filteringStats.tsv b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrY_flt.vcf.filteringStats.tsv deleted file mode 100644 index 89fafef..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrY_flt.vcf.filteringStats.tsv +++ /dev/null @@ -1,27 +0,0 @@ -#Ln prior of deletion of length 10=-16.11809565095832 -#Ln prior of deletion of length 9=-16.11809565095832 -#Ln prior of deletion of length 8=-16.11809565095832 -#Ln prior of deletion of length 7=-16.11809565095832 -#Ln prior of deletion of length 6=-16.11809565095832 -#Ln prior of deletion of length 5=-16.11809565095832 -#Ln prior of deletion of length 4=-16.11809565095832 -#Ln prior of deletion of length 3=-16.11809565095832 -#Ln prior of deletion of length 2=-16.11809565095832 -#Ln prior of deletion of length 1=-16.11809565095832 -#Ln prior of SNV=-13.815510557964275 -#Ln prior of insertion of length 1=-16.11809565095832 -#Ln prior of insertion of length 2=-16.11809565095832 -#Ln prior of insertion of length 3=-16.11809565095832 -#Ln prior of insertion of length 4=-16.11809565095832 -#Ln prior of insertion of length 5=-16.11809565095832 -#Ln prior of insertion of length 6=-16.11809565095832 -#Ln prior of insertion of length 7=-16.11809565095832 -#Ln prior of insertion of length 8=-16.11809565095832 -#Ln prior of insertion of length 9=-16.11809565095832 -#Ln prior of insertion of length 10=-16.11809565095832 -#Background beta-binomial cluster=weight = 0.5000, alpha = 1.00, beta = 1.00 -#High-AF beta-binomial cluster=weight = 0.5000, alpha = 10.00, beta = 1.00 -#threshold=0.0 -#fdr=0.0 -#sensitivity=0.0 -filter FP FDR FN FNR diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrY_flt.vcf.gz b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrY_flt.vcf.gz deleted file mode 100644 index cfc199e..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrY_flt.vcf.gz and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrY_flt.vcf.gz.tbi b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrY_flt.vcf.gz.tbi deleted file mode 100644 index b9e0990..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrY_flt.vcf.gz.tbi and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrY_flt.vcf.idx b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrY_flt.vcf.idx deleted file mode 100644 index cc770f9..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/mutect2/s001_variants/chrY_flt.vcf.idx and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/transindel/s001_build.bam b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/transindel/s001_build.bam deleted file mode 100644 index 4438f4c..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/transindel/s001_build.bam and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/transindel/s001_build.bam.bai b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/transindel/s001_build.bam.bai deleted file mode 100644 index e0a558f..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/transindel/s001_build.bam.bai and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/transindel/s001_call.indel.vcf b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/transindel/s001_call.indel.vcf deleted file mode 100644 index 16de5ec..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/transindel/s001_call.indel.vcf +++ /dev/null @@ -1,15 +0,0 @@ -##fileformat=VCFv4.1 -##source=transIndel v2.0 -##ALT= -##ALT= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##FORMAT= -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT results/indel-test_SE/rnaseq/indel/transindel/s001_call diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/transindel/s001_long.indels.vcf.gz b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/transindel/s001_long.indels.vcf.gz deleted file mode 100644 index 3af11a6..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/transindel/s001_long.indels.vcf.gz and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/transindel/s001_long.indels_augmented.vcf b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/transindel/s001_long.indels_augmented.vcf deleted file mode 100644 index 7dd6024..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/indel/transindel/s001_long.indels_augmented.vcf +++ /dev/null @@ -1,42 +0,0 @@ -##fileformat=VCFv4.1 -##source=transIndel v2.0 -##ALT= -##ALT= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##FORMAT= -##INFO= -##INFO= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT results/indel-test_SE/rnaseq/indel/transindel/s001_call diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/qualitycontrol/s001_raw.html b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/qualitycontrol/s001_raw.html deleted file mode 100644 index 5339d6d..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/qualitycontrol/s001_raw.html +++ /dev/null @@ -1,187 +0,0 @@ -LNCaP_001_25K.fq FastQC Report
FastQCFastQC Report
Sat 18 May 2024
LNCaP_001_25K.fq

Summary

[OK]Basic Statistics

MeasureValue
FilenameLNCaP_001_25K.fq
File typeConventional base calls
EncodingSanger / Illumina 1.9
Total Sequences25000
Total Bases6.8 Mbp
Sequences flagged as poor quality0
Sequence length70-302
%GC55

[OK]Per base sequence quality

Per base quality graph

[OK]Per sequence quality scores

Per Sequence quality graph

[FAIL]Per base sequence content

Per base sequence content

[FAIL]Per sequence GC content

Per sequence GC content graph

[OK]Per base N content

N content graph

[WARN]Sequence Length Distribution

Sequence length distribution

[FAIL]Sequence Duplication Levels

Duplication level graph

[FAIL]Overrepresented sequences

SequenceCountPercentagePossible Source
CTGCAAAACCCCACTCTGCATCAACTGAACGCAAATCAGCCACTTTAATT9903.9600000000000004No Hit
GCAAAACCCCACTCTGCATCAACTGAACGCAAATCAGCCACTTTAATTAA6712.6839999999999997No Hit
TGCAAAACCCCACTCTGCATCAACTGAACGCAAATCAGCCACTTTAATTA5642.2560000000000002No Hit
GGACTGCAAAACCCCACTCTGCATCAACTGAACGCAAATCAGCCACTTTA2370.9480000000000001No Hit
CGTAGACACACGAGCATATTTCACCTCCGCTACCATAATCATCGCTATCC1850.74No Hit
CAAAACCCCACTCTGCATCAACTGAACGCAAATCAGCCACTTTAATTAAG1790.716No Hit
GCCTGACTGGCATTGTATTAGCAAACTCATCACTAGACATCGTACTACAC1480.592No Hit
CCCCACTCTGCATCAACTGAACGCAAATCAGCCACTTTAATTAAGCTAAG1430.5720000000000001No Hit
CTGAACGCAAATCAGCCACTTTAATTAAGCTAAGCCCTTACTAGACCAAT1420.5680000000000001No Hit
CCTGACTGGCATTGTATTAGCAAACTCATCACTAGACATCGTACTACACG1410.5640000000000001No Hit
CTTCTAGGTAACGACCACATCTACAACGTTATCGTCACAGCCCATGCATT1340.536No Hit
TTTCTTTTCACCGTAGGTGGCCTGACTGGCATTGTATTAGCAAACTCATC1280.512No Hit
GCCAGGCAACCTTCTAGGTAACGACCACATCTACAACGTTATCGTCACAG1270.508No Hit
GGGCCAGCCAGGCAACCTTCTAGGTAACGACCACATCTACAACGTTATCG1130.45199999999999996No Hit
CTGGCATTGTATTAGCAAACTCATCACTAGACATCGTACTACACGACACG1090.436No Hit
AAACCCCACTCTGCATCAACTGAACGCAAATCAGCCACTTTAATTAAGCT1010.404No Hit
CTACAACGTTATCGTCACAGCCCATGCATTTGTAATAATCTTCTTCATAG980.392No Hit
ATTTACAGTAGGAATAGACGTAGACACACGAGCATATTTCACCTCCGCTA980.392No Hit
CTGACTGGCATTGTATTAGCAAACTCATCACTAGACATCGTACTACACGA940.376No Hit
CGACCACATCTACAACGTTATCGTCACAGCCCATGCATTTGTAATAATCT930.372No Hit
ATTTCACCTCCGCTACCATAATCATCGCTATCCCCACCGGCGTCAAAGTA860.344No Hit
CATCAACTGAACGCAAATCAGCCACTTTAATTAAGCTAAGCCCTTACTAG800.32No Hit
ACTGAACGCAAATCAGCCACTTTAATTAAGCTAAGCCCTTACTAGACCAA740.296No Hit
CATATATTTACAGTAGGAATAGACGTAGACACACGAGCATATTTCACCTC690.27599999999999997No Hit
GGCCTGACTGGCATTGTATTAGCAAACTCATCACTAGACATCGTACTACA690.27599999999999997No Hit
GACTGCAAAACCCCACTCTGCATCAACTGAACGCAAATCAGCCACTTTAA680.272No Hit
AGGCAACCTTCTAGGTAACGACCACATCTACAACGTTATCGTCACAGCCC650.26No Hit
CACGAGCATATTTCACCTCCGCTACCATAATCATCGCTATCCCCACCGGC650.26No Hit
CAACTGAACGCAAATCAGCCACTTTAATTAAGCTAAGCCCTTACTAGACC630.252No Hit
ACCACATCTACAACGTTATCGTCACAGCCCATGCATTTGTAATAATCTTC630.252No Hit
CACATCTACAACGTTATCGTCACAGCCCATGCATTTGTAATAATCTTCTT610.244No Hit
GCCAGCCAGGCAACCTTCTAGGTAACGACCACATCTACAACGTTATCGTC590.23600000000000002No Hit
CGAGCATATTTCACCTCCGCTACCATAATCATCGCTATCCCCACCGGCGT580.232No Hit
TTTACAGTAGGAATAGACGTAGACACACGAGCATATTTCACCTCCGCTAC530.212No Hit
CAATCACCTGAGCTCACCATAGTCTAATAGAAAACAACCGAAACCAAATA530.212No Hit
CATCTACAACGTTATCGTCACAGCCCATGCATTTGTAATAATCTTCTTCA530.212No Hit
CGTAGGTGGCCTGACTGGCATTGTATTAGCAAACTCATCACTAGACATCG490.196No Hit
AGCCAGGCAACCTTCTAGGTAACGACCACATCTACAACGTTATCGTCACA480.192No Hit
GGCCAGCCAGGCAACCTTCTAGGTAACGACCACATCTACAACGTTATCGT470.188No Hit
TAGACGTAGACACACGAGCATATTTCACCTCCGCTACCATAATCATCGCT450.18No Hit
CAACGTTATCGTCACAGCCCATGCATTTGTAATAATCTTCTTCATAGTAA450.18No Hit
GTAGACACACGAGCATATTTCACCTCCGCTACCATAATCATCGCTATCCC440.17600000000000002No Hit
AACCCCACTCTGCATCAACTGAACGCAAATCAGCCACTTTAATTAAGCTA430.172No Hit
CAACCTTCTAGGTAACGACCACATCTACAACGTTATCGTCACAGCCCATG420.168No Hit
AAAACCCCACTCTGCATCAACTGAACGCAAATCAGCCACTTTAATTAAGC420.168No Hit
CAGCGAACTCATCTTTGCCAGTACAGGAGCTCGTGCCGTGGCCCACAGCC400.16No Hit
CCACTCTGCATCAACTGAACGCAAATCAGCCACTTTAATTAAGCTAAGCC390.156No Hit
GGCAACCTTCTAGGTAACGACCACATCTACAACGTTATCGTCACAGCCCA380.152No Hit
ATCAACTGAACGCAAATCAGCCACTTTAATTAAGCTAAGCCCTTACTAGA370.148No Hit
TAGGAATAGACGTAGACACACGAGCATATTTCACCTCCGCTACCATAATC370.148No Hit
ACCCCACTCTGCATCAACTGAACGCAAATCAGCCACTTTAATTAAGCTAA360.14400000000000002No Hit
ACTGCAAAACCCCACTCTGCATCAACTGAACGCAAATCAGCCACTTTAAT360.14400000000000002No Hit
CAGCCAGGCAACCTTCTAGGTAACGACCACATCTACAACGTTATCGTCAC350.13999999999999999No Hit
CTCTGCATCAACTGAACGCAAATCAGCCACTTTAATTAAGCTAAGCCCTT350.13999999999999999No Hit
GCATTGTATTAGCAAACTCATCACTAGACATCGTACTACACGACACGTAC340.136No Hit
CAGGCAACCTTCTAGGTAACGACCACATCTACAACGTTATCGTCACAGCC330.132No Hit
CCTGGAGTGACTATATGGATGCCCCCCACCCTACCACACATTCGAAGAAC330.132No Hit
CACACGAGCATATTTCACCTCCGCTACCATAATCATCGCTATCCCCACCG330.132No Hit
TATATTTACAGTAGGAATAGACGTAGACACACGAGCATATTTCACCTCCG310.124No Hit
AATAGACGTAGACACACGAGCATATTTCACCTCCGCTACCATAATCATCG310.124No Hit
GTTGACTATTCTCTACAAACCACAAAGACATTGGAACACTATACCTATTA310.124No Hit
TGGCCTGACTGGCATTGTATTAGCAAACTCATCACTAGACATCGTACTAC310.124No Hit
TGGCATTGTATTAGCAAACTCATCACTAGACATCGTACTACACGACACGT300.12No Hit
CCGTAGGTGGCCTGACTGGCATTGTATTAGCAAACTCATCACTAGACATC300.12No Hit
ACGAATTCCAGGTGTCCCTGAGCAGCTCCATGTCGGTGTCAGAGCTGAAG290.116No Hit
AGACACACGAGCATATTTCACCTCCGCTACCATAATCATCGCTATCCCCA290.116No Hit
GGTGGCCTGACTGGCATTGTATTAGCAAACTCATCACTAGACATCGTACT290.116No Hit
CTCATCTTTGCCAGTACAGGAGCTCGTGCCGTGGCCCACAGCCCACAGCC290.116No Hit
GCAACCTTCTAGGTAACGACCACATCTACAACGTTATCGTCACAGCCCAT280.11199999999999999No Hit
AATCACCTGAGCTCACCATAGTCTAATAGAAAACAACCGAAACCAAATAA280.11199999999999999No Hit
CTGGGCCAGCCAGGCAACCTTCTAGGTAACGACCACATCTACAACGTTAT280.11199999999999999No Hit
GACCACATCTACAACGTTATCGTCACAGCCCATGCATTTGTAATAATCTT280.11199999999999999No Hit
GCATATTTCACCTCCGCTACCATAATCATCGCTATCCCCACCGGCGTCAA270.108No Hit
TCTACAACGTTATCGTCACAGCCCATGCATTTGTAATAATCTTCTTCATA270.108No Hit
TTCTAGGTAACGACCACATCTACAACGTTATCGTCACAGCCCATGCATTT270.108No Hit
TAGACACACGAGCATATTTCACCTCCGCTACCATAATCATCGCTATCCCC270.108No Hit
GTAGGAATAGACGTAGACACACGAGCATATTTCACCTCCGCTACCATAAT260.104No Hit
CCACAGCCCACAGCCCACAGCCATGGGCTGGGACCTGACGGTGAAGATGC260.104No Hit

[OK]Adapter Content

Adapter graph

Produced by FastQC (version 0.12.1)
\ No newline at end of file diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/qualitycontrol/s001_raw.zip b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/qualitycontrol/s001_raw.zip deleted file mode 100644 index d890d6e..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/qualitycontrol/s001_raw.zip and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/quantification/s001_counts.txt b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/quantification/s001_counts.txt deleted file mode 100644 index 515f8d1..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/quantification/s001_counts.txt +++ /dev/null @@ -1,63243 +0,0 @@ -# Program:featureCounts v2.0.6; Command:"featureCounts" "-F" "GTF" "-a" "resources/refs/genome.gtf" "-t" "gene" "-g" "gene_id" "--fracOverlap" "0.2" "-Q" "30" "-T" "2" "-o" "results/indel-test_SE/rnaseq/quantification/s001_counts.txt" "results/indel-test_SE/rnaseq/align/s001_final_STAR.bam" -Geneid Chr Start End Strand Length results/indel-test_SE/rnaseq/align/s001_final_STAR.bam -ENSG00000279928 chr1 182696 184174 + 1479 1 -ENSG00000228037 chr1 2581560 2584533 + 2974 0 -ENSG00000142611 chr1 3069168 3438621 + 369454 0 -ENSG00000284616 chr1 5301928 5307394 - 5467 0 -ENSG00000157911 chr1 2403964 2413797 - 9834 0 -ENSG00000260972 chr1 5492978 5494674 + 1697 0 -ENSG00000224340 chr1 10054445 10054781 - 337 0 -ENSG00000226374 chr1 3944547 3949024 - 4478 0 -ENSG00000229280 chr1 4175528 4175899 - 372 0 -ENSG00000142655 chr1 10472288 10630758 + 158471 0 -ENSG00000232596 chr1 4571481 4594016 + 22536 0 -ENSG00000235054 chr1 4412027 4424689 + 12663 0 -ENSG00000231510 chr1 5086459 5090899 - 4441 0 -ENSG00000149527 chr1 2425980 2505532 + 79553 0 -ENSG00000284739 chr1 4963954 4973298 - 9345 0 -ENSG00000171621 chr1 9292894 9369532 + 76639 0 -ENSG00000272235 chr1 3306636 3310096 - 3461 0 -ENSG00000284694 chr1 4479131 4484375 - 5245 0 -ENSG00000224387 chr1 2492300 2493258 - 959 0 -ENSG00000142583 chr1 9035106 9088478 - 53373 0 -ENSG00000284674 chr1 4973381 4981568 + 8188 0 -ENSG00000224338 chr1 11425257 11425821 - 565 0 -ENSG00000287727 chr1 10612222 10616452 - 4231 0 -ENSG00000286448 chr1 266855 268655 + 1801 0 -ENSG00000284703 chr1 4012921 4019508 - 6588 0 -ENSG00000226457 chr1 16369150 16369530 - 381 0 -ENSG00000173614 chr1 9943428 9985501 + 42074 0 -ENSG00000215720 chr1 15191828 15192845 - 1018 0 -ENSG00000241326 chr1 9983141 9984568 + 1428 0 -ENSG00000233623 chr1 10058671 10059648 + 978 0 -ENSG00000204624 chr1 11479155 11537551 + 58397 0 -ENSG00000142606 chr1 2590639 2633016 - 42378 0 -ENSG00000225931 chr1 2566410 2569888 + 3479 0 -ENSG00000171729 chr1 15152532 15220478 + 67947 0 -ENSG00000279457 chr1 185217 195411 - 10195 84 -ENSG00000229393 chr1 2493437 2494479 - 1043 0 -ENSG00000037637 chr1 16246840 16352480 - 105641 0 -ENSG00000287586 chr1 4730211 4734992 - 4782 0 -ENSG00000159423 chr1 18871430 18902724 - 31295 0 -ENSG00000227169 chr1 4551735 4552145 - 411 0 -ENSG00000283356 chr1 5554747 5554881 + 135 0 -ENSG00000157916 chr1 2391775 2405442 + 13668 0 -ENSG00000157881 chr1 2508537 2526597 - 18061 0 -ENSG00000238290 chr1 8026738 8122702 + 95965 0 -ENSG00000225387 chr1 18385829 18388514 + 2686 0 -ENSG00000048707 chr1 12230030 12512047 + 282018 0 -ENSG00000225196 chr1 12220794 12221109 - 316 0 -ENSG00000162444 chr1 9997206 10016021 + 18816 0 -ENSG00000279625 chr1 22364630 22366482 - 1853 0 -ENSG00000180758 chr1 9100305 9129102 - 28798 0 -ENSG00000184677 chr1 22428838 22531157 + 102320 0 -ENSG00000288398 chr1 16228674 16231335 - 2662 0 -ENSG00000224621 chr1 16159266 16161883 + 2618 0 -ENSG00000285833 chr1 11500803 11502016 - 1214 0 -ENSG00000131697 chr1 5862811 5992473 - 129663 0 -ENSG00000284692 chr1 5478736 5493057 - 14322 0 -ENSG00000284745 chr1 2960658 2968707 - 8050 0 -ENSG00000280222 chr1 18109389 18115861 + 6473 0 -ENSG00000285945 chr1 2768091 2784733 + 16643 0 -ENSG00000197921 chr1 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-ENSG00000278932 chr21 9325013 9370490 + 45478 0 -ENSG00000255568 chr21 39313907 39314962 + 1056 0 -ENSG00000289448 chr21 45347547 45353538 + 5992 0 -ENSG00000236830 chr21 36131767 36175815 - 44049 0 -ENSG00000160299 chr21 46324124 46445769 + 121646 0 -ENSG00000223799 chr21 33263873 33266296 - 2424 0 -ENSG00000289238 chr21 33324137 33324872 - 736 0 -ENSG00000289939 chr21 33402653 33403047 + 395 0 -ENSG00000224747 chr21 44469929 44472516 - 2588 0 -ENSG00000223431 chr21 44472895 44473739 + 845 0 -ENSG00000227999 chr21 44473723 44475097 - 1375 0 -ENSG00000289857 chr21 44483044 44483398 + 355 0 -ENSG00000228709 chr21 44485463 44495519 + 10057 0 -ENSG00000226501 chr21 33334596 33335097 + 502 0 -ENSG00000142166 chr21 33324387 33359864 + 35478 0 -ENSG00000159140 chr21 33543038 33577481 + 34444 0 -ENSG00000197381 chr21 45073853 45226560 + 152708 0 -ENSG00000187172 chr21 10454134 10516431 + 62298 0 -ENSG00000290523 chr21 10413477 10491615 + 78139 0 -ENSG00000224309 chr21 13038208 13067033 + 28826 0 -ENSG00000290568 chr21 13038160 13052118 + 13959 0 -ENSG00000188681 chr21 9068414 9073609 - 5196 0 -ENSG00000291050 chr21 9068325 9129773 - 61449 0 -ENSG00000243064 chr21 14274092 14362754 + 88663 0 -ENSG00000249624 chr21 33229892 33297160 + 67269 0 -ENSG00000227438 chr21 46093264 46097530 - 4267 0 -ENSG00000278381 chr21 13654073 13654356 + 284 0 -ENSG00000227874 chr21 13665868 13667546 - 1679 0 -ENSG00000214319 chr21 13676022 13677116 + 1095 0 -ENSG00000279773 chr21 13679300 13681138 - 1839 0 -ENSG00000273692 chr21 13704853 13705518 + 666 0 -ENSG00000278618 chr21 13724189 13724274 + 86 0 -ENSG00000229231 chr21 13762338 13764332 + 1995 0 -ENSG00000224922 chr21 13769932 13771740 + 1809 0 -ENSG00000173231 chr21 13776086 13777266 + 1181 0 -ENSG00000232797 chr21 13792635 13793141 + 507 0 -ENSG00000224860 chr21 13824406 13825635 - 1230 0 -ENSG00000215562 chr21 13826696 13827627 + 932 0 -ENSG00000234538 chr21 13839118 13839409 + 292 0 -ENSG00000290541 chr21 13843133 13848364 - 5232 0 -ENSG00000228314 chr21 13846759 13847713 - 955 0 -ENSG00000230965 chr21 13905960 13906488 - 529 0 -ENSG00000290581 chr21 13909574 13935655 - 26082 0 -ENSG00000215559 chr21 13909574 13979911 - 70338 0 -ENSG00000291280 chr21 13937946 13980437 - 42492 0 -ENSG00000203616 chr21 13936993 13937325 - 333 0 -ENSG00000224905 chr21 14027415 14144468 + 117054 0 -ENSG00000291052 chr21 14236206 14338017 + 101812 0 -ENSG00000232884 chr21 14676689 14763259 - 86571 0 -ENSG00000228600 chr21 14757588 14758352 + 765 0 -ENSG00000225502 chr21 14774301 14775262 + 962 0 -ENSG00000235609 chr21 14818843 15014430 - 195588 0 -ENSG00000291290 chr21 14819699 14823309 - 3611 0 -ENSG00000281903 chr21 14824254 14918552 - 94299 0 -ENSG00000291291 chr21 14821208 14821806 - 599 0 -ENSG00000226406 chr21 14829154 14829989 - 836 0 -ENSG00000235277 chr21 14918534 14947096 + 28563 0 -ENSG00000180530 chr21 14961235 15065936 - 104702 0 -ENSG00000229047 chr21 14961309 14964233 + 2925 0 -ENSG00000231201 chr21 14971470 14992854 + 21385 0 -ENSG00000279390 chr21 15050189 15052379 + 2191 0 -ENSG00000236471 chr21 15067070 15067837 + 768 0 -ENSG00000288536 chr21 15102313 15138649 - 36337 0 -ENSG00000159200 chr21 34513142 34615113 - 101972 0 -ENSG00000248476 chr21 29351634 29361894 + 10261 0 -ENSG00000273017 chr21 29359002 29359453 + 452 0 -ENSG00000232118 chr21 29370019 29376339 - 6321 0 -ENSG00000228817 chr21 29370497 29373709 + 3213 0 -ENSG00000234293 chr21 29496047 29500386 + 4340 0 -ENSG00000171189 chr21 29536933 29940033 - 403101 0 -ENSG00000273464 chr21 29657406 29657831 + 426 0 -ENSG00000174680 chr21 29748175 29764002 + 15828 0 -ENSG00000279998 chr21 6789592 6812297 + 22706 0 -ENSG00000284550 chr21 6859171 6859256 + 86 0 -ENSG00000280172 chr21 6897291 6899280 + 1990 0 -ENSG00000279751 chr21 6904884 6906692 + 1809 0 -ENSG00000274276 chr21 6444869 6467513 - 22645 0 -ENSG00000275895 chr21 6484623 6499248 - 14626 0 -ENSG00000276076 chr21 6499203 6564489 + 65287 0 -ENSG00000274559 chr21 5972924 5973383 - 460 0 -ENSG00000280013 chr21 6008604 6008810 + 207 0 -ENSG00000280191 chr21 6060340 6076305 + 15966 0 -ENSG00000280179 chr21 6084381 6091407 - 7027 0 -ENSG00000275993 chr21 6111131 6123778 + 12648 0 -ENSG00000273590 chr21 7744951 7758630 + 13680 0 -ENSG00000277277 chr21 7769588 7770548 - 961 0 -ENSG00000278961 chr21 7788703 7793954 - 5252 0 -ENSG00000276289 chr21 7816677 7829632 - 12956 0 -ENSG00000142192 chr21 25880535 26171128 - 290594 0 -ENSG00000233783 chr21 25928754 25952614 + 23861 0 -ENSG00000251972 chr21 25943044 25943145 - 102 0 -ENSG00000224541 chr21 26158091 26175824 + 17734 0 -ENSG00000206802 chr21 26190707 26190813 + 107 0 -ENSG00000189169 chr21 44697172 44698044 + 873 0 -ENSG00000289144 chr21 44748900 44750986 + 2087 0 -ENSG00000236519 chr21 44801883 44804717 + 2835 0 -ENSG00000289009 chr21 44873985 44875807 + 1823 0 -ENSG00000198862 chr21 28928144 28992956 - 64813 0 -ENSG00000176054 chr21 28997613 28998033 - 421 0 -ENSG00000156253 chr21 29004384 29019360 - 14977 0 -ENSG00000273254 chr21 29024255 29024890 - 636 0 -ENSG00000156256 chr21 29024629 29054488 + 29860 0 -ENSG00000156261 chr21 29055805 29073797 - 17993 0 -ENSG00000231125 chr21 29058073 29060095 - 2023 0 -ENSG00000286018 chr21 29063446 29064368 + 923 0 -ENSG00000156265 chr21 29077221 29175889 + 98669 0 -ENSG00000232687 chr21 29127701 29128188 - 488 0 -ENSG00000201984 chr21 29139283 29139384 - 102 0 -ENSG00000212479 chr21 29180425 29180639 - 215 0 -ENSG00000224649 chr21 29182027 29187795 - 5769 0 -ENSG00000236056 chr21 29222321 29223257 + 937 0 -ENSG00000142173 chr21 46098112 46132848 + 34737 0 -ENSG00000278903 chr21 6318378 6360415 + 42038 0 -ENSG00000288187 chr21 6215291 6217681 - 2391 0 -ENSG00000177692 chr21 33488055 33491716 - 3662 0 -ENSG00000278878 chr21 6667304 6670667 - 3364 0 -ENSG00000160256 chr21 44940025 44976973 + 36949 0 -ENSG00000289538 chr21 37816074 37840669 + 24596 0 -ENSG00000286717 chr21 37593977 37661496 + 67520 0 -ENSG00000157542 chr21 37607373 38121345 - 513973 0 -ENSG00000292434 chr21 37698555 37740702 + 42148 0 -ENSG00000292435 chr21 37751547 37763976 + 12430 0 -ENSG00000184029 chr21 37951425 38121360 - 169936 0 -ENSG00000223608 chr21 38006544 38010618 - 4075 0 -ENSG00000198054 chr21 38121451 38156511 + 35061 0 -ENSG00000233316 chr21 38206156 38208644 + 2489 0 -ENSG00000280081 chr21 9810381 9810503 - 123 0 -ENSG00000293035 chr21 9781910 9838011 - 56102 0 -ENSG00000270533 chr21 9997487 9998033 - 547 0 -ENSG00000293037 chr21 9975017 10119309 - 144293 0 -ENSG00000213885 chr21 25361821 25362431 + 611 0 -ENSG00000293050 chr21 25362085 25381756 + 19672 0 -ENSG00000279864 chr21 9558970 9559155 + 186 0 -ENSG00000293062 chr21 9529934 9559268 + 29335 0 -ENSG00000235374 chr21 45071828 45072239 - 412 0 -ENSG00000293210 chr21 45070952 45074165 - 3214 0 -ENSG00000270835 chr21 38204544 38205606 - 1063 0 -ENSG00000293371 chr21 38204141 38206080 - 1940 0 -ENSG00000160213 chr21 43772511 43776330 - 3820 0 -ENSG00000288593 chr21 43939919 43959673 + 19755 0 -ENSG00000225331 chr21 44158740 44160076 - 1337 0 -ENSG00000278158 chr21 44241575 44242081 + 507 0 -ENSG00000286224 chr21 46326288 46326491 + 204 0 -ENSG00000210049 chrMT 577 647 + 71 0 -ENSG00000211459 chrMT 648 1601 + 954 0 -ENSG00000210077 chrMT 1602 1670 + 69 0 -ENSG00000210082 chrMT 1671 3229 + 1559 0 -ENSG00000209082 chrMT 3230 3304 + 75 0 -ENSG00000198888 chrMT 3307 4262 + 956 2 -ENSG00000210100 chrMT 4263 4331 + 69 0 -ENSG00000210107 chrMT 4329 4400 - 72 0 -ENSG00000210112 chrMT 4402 4469 + 68 0 -ENSG00000198763 chrMT 4470 5511 + 1042 7 -ENSG00000210117 chrMT 5512 5579 + 68 0 -ENSG00000210127 chrMT 5587 5655 - 69 4 -ENSG00000210135 chrMT 5657 5729 - 73 5 -ENSG00000210140 chrMT 5761 5826 - 66 1 -ENSG00000210144 chrMT 5826 5891 - 66 0 -ENSG00000198804 chrMT 5904 7445 + 1542 379 -ENSG00000210151 chrMT 7446 7514 - 69 0 -ENSG00000210154 chrMT 7518 7585 + 68 0 -ENSG00000198712 chrMT 7586 8269 + 684 8 -ENSG00000210156 chrMT 8295 8364 + 70 0 -ENSG00000228253 chrMT 8366 8572 + 207 0 -ENSG00000198899 chrMT 8527 9207 + 681 21 -ENSG00000198938 chrMT 9207 9990 + 784 77 -ENSG00000210164 chrMT 9991 10058 + 68 0 -ENSG00000198840 chrMT 10059 10404 + 346 0 -ENSG00000210174 chrMT 10405 10469 + 65 0 -ENSG00000212907 chrMT 10470 10766 + 297 0 -ENSG00000198886 chrMT 10760 12137 + 1378 0 -ENSG00000210176 chrMT 12138 12206 + 69 0 -ENSG00000210184 chrMT 12207 12265 + 59 0 -ENSG00000210191 chrMT 12266 12336 + 71 0 -ENSG00000198786 chrMT 12337 14148 + 1812 0 -ENSG00000198695 chrMT 14149 14673 - 525 0 -ENSG00000210194 chrMT 14674 14742 - 69 0 -ENSG00000198727 chrMT 14747 15887 + 1141 0 -ENSG00000210195 chrMT 15888 15953 + 66 0 -ENSG00000210196 chrMT 15956 16023 - 68 0 -ENSG00000274175 KI270728.1 17234 19833 + 2600 0 -ENSG00000273554 KI270728.1 1139577 1147868 - 8292 0 -ENSG00000275869 KI270728.1 933862 936467 - 2606 0 -ENSG00000278510 KI270728.1 1109945 1110235 + 291 0 -ENSG00000273843 KI270728.1 137798 139135 + 1338 0 -ENSG00000277836 KI270728.1 1270984 1271271 + 288 0 -ENSG00000278673 KI270727.1 20741 22392 - 1652 0 -ENSG00000277890 KI270727.1 34890 34996 + 107 0 -ENSG00000275249 KI270727.1 372322 373405 + 1084 0 -ENSG00000274792 KI270727.1 386278 387620 + 1343 0 -ENSG00000276872 KI270727.1 417283 418206 + 924 0 -ENSG00000276760 KI270727.1 136160 167571 - 31412 0 -ENSG00000277927 KI270727.1 156089 156195 - 107 0 -ENSG00000278457 KI270442.1 380608 380726 + 119 0 -ENSG00000278294 KI270442.1 217250 217401 - 152 0 -ENSG00000276711 GL000225.1 183252 183364 + 113 0 -ENSG00000278704 GL000009.2 56140 58376 - 2237 0 -ENSG00000277400 GL000194.1 53590 115018 - 61429 0 -ENSG00000274847 GL000194.1 53594 115055 - 61462 0 -ENSG00000276932 GL000205.2 93050 93150 - 101 0 -ENSG00000277428 GL000195.1 37434 37534 - 101 0 -ENSG00000276256 GL000195.1 42939 49164 - 6226 0 -ENSG00000276312 KI270733.1 167218 167307 + 90 0 -ENSG00000276700 KI270733.1 128877 129029 + 153 0 -ENSG00000275757 KI270733.1 173956 174108 + 153 0 -ENSG00000273739 KI270733.1 122136 122225 + 90 0 -ENSG00000273748 GL000219.1 54224 83311 - 29088 0 -ENSG00000274202 GL000216.2 93197 93309 - 113 0 -ENSG00000278625 KI270744.1 51009 51114 - 106 0 -ENSG00000278573 KI270734.1 59711 60316 + 606 0 -ENSG00000277196 KI270734.1 138082 161852 - 23771 0 -ENSG00000278817 KI270734.1 131494 137392 + 5899 0 -ENSG00000276017 KI270734.1 72411 74814 + 2404 0 -ENSG00000277630 GL000213.1 108007 139659 - 31653 0 -ENSG00000278793 GL000213.1 127840 127946 - 107 0 -ENSG00000276197 GL000220.1 105287 105376 + 90 0 -ENSG00000274917 GL000220.1 112025 112177 + 153 0 -ENSG00000273730 GL000220.1 155997 156149 + 153 0 -ENSG00000273937 GL000220.1 149259 149348 + 90 0 -ENSG00000278384 GL000218.1 51867 54893 - 3027 0 -ENSG00000278633 KI270731.1 10598 13001 - 2404 0 -ENSG00000278066 KI270731.1 26533 27138 - 606 0 -ENSG00000277374 KI270750.1 148668 148843 + 176 0 -ENSG00000275661 KI270721.1 52895 53010 + 116 0 -ENSG00000276351 KI270721.1 52666 52734 + 69 0 -ENSG00000276345 KI270721.1 2585 11802 + 9218 0 -ENSG00000273532 KI270721.1 51722 51792 + 71 0 -ENSG00000275063 KI270726.1 41444 41876 + 433 0 -ENSG00000277856 KI270726.1 26241 26534 + 294 0 -ENSG00000271254 KI270711.1 4612 29626 - 25015 0 -ENSG00000275987 KI270713.1 30437 30580 - 144 0 -ENSG00000268674 KI270713.1 35407 35916 + 510 0 -ENSG00000277475 KI270713.1 31698 32528 - 831 0 -ENSG00000275405 KI270713.1 21861 22024 - 164 0 diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/quantification/s001_counts.txt.summary b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/quantification/s001_counts.txt.summary deleted file mode 100644 index 8577390..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/quantification/s001_counts.txt.summary +++ /dev/null @@ -1,15 +0,0 @@ -Status results/indel-test_SE/rnaseq/align/s001_final_STAR.bam -Assigned 16782 -Unassigned_Unmapped 0 -Unassigned_Read_Type 0 -Unassigned_Singleton 0 -Unassigned_MappingQuality 86813 -Unassigned_Chimera 0 -Unassigned_FragmentLength 0 -Unassigned_Duplicate 0 -Unassigned_MultiMapping 0 -Unassigned_Secondary 0 -Unassigned_NonSplit 0 -Unassigned_NoFeatures 1298 -Unassigned_Overlapping_Length 66 -Unassigned_Ambiguity 3129 diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/reads/s001_preproc.fq.gz b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/reads/s001_preproc.fq.gz deleted file mode 100644 index 77be8ea..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/reads/s001_preproc.fq.gz and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/reads/s001_preproc_failed.fq.gz b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/reads/s001_preproc_failed.fq.gz deleted file mode 100644 index bc22245..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/reads/s001_preproc_failed.fq.gz and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/reads/s001_preproc_report.html b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/reads/s001_preproc_report.html deleted file mode 100644 index 7259d8f..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/reads/s001_preproc_report.html +++ /dev/null @@ -1,2354 +0,0 @@ -fastp report at 2024-05-18 03:27:00 - - - - - -
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fastp report -
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Summary
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General
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fastp version:0.23.4 (https://github.com/OpenGene/fastp)
sequencing:single end (302 cycles)
mean length before filtering:272bp
mean length after filtering:272bp
duplication rate:19.428000% (may be overestimated since this is SE data)
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Before filtering
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total reads:25.000000 K
total bases:6.805951 M
Q20 bases:6.681168 M (98.166560%)
Q30 bases:6.441704 M (94.648110%)
GC content:55.748756%
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After filtering
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total reads:24.997000 K
total bases:6.805560 M
Q20 bases:6.680849 M (98.167513%)
Q30 bases:6.441430 M (94.649522%)
GC content:55.749137%
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Filtering result
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reads passed filters:24.997000 K (99.988000%)
reads with low quality:0 (0.000000%)
reads with too many N:3 (0.012000%)
reads too short:0 (0.000000%)
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Before filtering
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Before filtering: read1: quality
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Value of each position will be shown on mouse over.
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Before filtering: read1: base contents
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Value of each position will be shown on mouse over.
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Before filtering: read1: KMER counting
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Darker background means larger counts. The count will be shown on mouse over.
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AAATACAGTATTTCTGCACTCCCGGAGTGCGG
AAAAAAAAAAAATAAAACAAAAGAAATAAAATTAAATCAAATGAAACAAAACTAAACCAAACGAAAGAAAAGTAAAGCAAAGG
AATAATAAAATATAATACAATAGAATTAAATTTAATTCAATTGAATCAAATCTAATCCAATCGAATGAAATGTAATGCAATGG
AACAACAAAACATAACACAACAGAACTAAACTTAACTCAACTGAACCAAACCTAACCCAACCGAACGAAACGTAACGCAACGG
AAGAAGAAAAGATAAGACAAGAGAAGTAAAGTTAAGTCAAGTGAAGCAAAGCTAAGCCAAGCGAAGGAAAGGTAAGGCAAGGG
ATAATAAAATAATATAACATAAGATATAATATTATATCATATGATACAATACTATACCATACGATAGAATAGTATAGCATAGG
ATTATTAAATTATATTACATTAGATTTAATTTTATTTCATTTGATTCAATTCTATTCCATTCGATTGAATTGTATTGCATTGG
ATCATCAAATCATATCACATCAGATCTAATCTTATCTCATCTGATCCAATCCTATCCCATCCGATCGAATCGTATCGCATCGG
ATGATGAAATGATATGACATGAGATGTAATGTTATGTCATGTGATGCAATGCTATGCCATGCGATGGAATGGTATGGCATGGG
ACAACAAAACAATACAACACAAGACATAACATTACATCACATGACACAACACTACACCACACGACAGAACAGTACAGCACAGG
ACTACTAAACTATACTACACTAGACTTAACTTTACTTCACTTGACTCAACTCTACTCCACTCGACTGAACTGTACTGCACTGG
ACCACCAAACCATACCACACCAGACCTAACCTTACCTCACCTGACCCAACCCTACCCCACCCGACCGAACCGTACCGCACCGG
ACGACGAAACGATACGACACGAGACGTAACGTTACGTCACGTGACGCAACGCTACGCCACGCGACGGAACGGTACGGCACGGG
AGAAGAAAAGAATAGAACAGAAGAGATAAGATTAGATCAGATGAGACAAGACTAGACCAGACGAGAGAAGAGTAGAGCAGAGG
AGTAGTAAAGTATAGTACAGTAGAGTTAAGTTTAGTTCAGTTGAGTCAAGTCTAGTCCAGTCGAGTGAAGTGTAGTGCAGTGG
AGCAGCAAAGCATAGCACAGCAGAGCTAAGCTTAGCTCAGCTGAGCCAAGCCTAGCCCAGCCGAGCGAAGCGTAGCGCAGCGG
AGGAGGAAAGGATAGGACAGGAGAGGTAAGGTTAGGTCAGGTGAGGCAAGGCTAGGCCAGGCGAGGGAAGGGTAGGGCAGGGG
TAATAAAATAAATTAAACTAAAGTAATATAATTTAATCTAATGTAACATAACTTAACCTAACGTAAGATAAGTTAAGCTAAGG
TATTATAATATATTATACTATAGTATTATATTTTATTCTATTGTATCATATCTTATCCTATCGTATGATATGTTATGCTATGG
TACTACAATACATTACACTACAGTACTATACTTTACTCTACTGTACCATACCTTACCCTACCGTACGATACGTTACGCTACGG
TAGTAGAATAGATTAGACTAGAGTAGTATAGTTTAGTCTAGTGTAGCATAGCTTAGCCTAGCGTAGGATAGGTTAGGCTAGGG
TTATTAAATTAATTTAACTTAAGTTATATTATTTTATCTTATGTTACATTACTTTACCTTACGTTAGATTAGTTTAGCTTAGG
TTTTTTAATTTATTTTACTTTAGTTTTATTTTTTTTTCTTTTGTTTCATTTCTTTTCCTTTCGTTTGATTTGTTTTGCTTTGG
TTCTTCAATTCATTTCACTTCAGTTCTATTCTTTTCTCTTCTGTTCCATTCCTTTCCCTTCCGTTCGATTCGTTTCGCTTCGG
TTGTTGAATTGATTTGACTTGAGTTGTATTGTTTTGTCTTGTGTTGCATTGCTTTGCCTTGCGTTGGATTGGTTTGGCTTGGG
TCATCAAATCAATTCAACTCAAGTCATATCATTTCATCTCATGTCACATCACTTCACCTCACGTCAGATCAGTTCAGCTCAGG
TCTTCTAATCTATTCTACTCTAGTCTTATCTTTTCTTCTCTTGTCTCATCTCTTCTCCTCTCGTCTGATCTGTTCTGCTCTGG
TCCTCCAATCCATTCCACTCCAGTCCTATCCTTTCCTCTCCTGTCCCATCCCTTCCCCTCCCGTCCGATCCGTTCCGCTCCGG
TCGTCGAATCGATTCGACTCGAGTCGTATCGTTTCGTCTCGTGTCGCATCGCTTCGCCTCGCGTCGGATCGGTTCGGCTCGGG
TGATGAAATGAATTGAACTGAAGTGATATGATTTGATCTGATGTGACATGACTTGACCTGACGTGAGATGAGTTGAGCTGAGG
TGTTGTAATGTATTGTACTGTAGTGTTATGTTTTGTTCTGTTGTGTCATGTCTTGTCCTGTCGTGTGATGTGTTGTGCTGTGG
TGCTGCAATGCATTGCACTGCAGTGCTATGCTTTGCTCTGCTGTGCCATGCCTTGCCCTGCCGTGCGATGCGTTGCGCTGCGG
TGGTGGAATGGATTGGACTGGAGTGGTATGGTTTGGTCTGGTGTGGCATGGCTTGGCCTGGCGTGGGATGGGTTGGGCTGGGG
CAACAAAACAAATCAAACCAAAGCAATACAATTCAATCCAATGCAACACAACTCAACCCAACGCAAGACAAGTCAAGCCAAGG
CATCATAACATATCATACCATAGCATTACATTTCATTCCATTGCATCACATCTCATCCCATCGCATGACATGTCATGCCATGG
CACCACAACACATCACACCACAGCACTACACTTCACTCCACTGCACCACACCTCACCCCACCGCACGACACGTCACGCCACGG
CAGCAGAACAGATCAGACCAGAGCAGTACAGTTCAGTCCAGTGCAGCACAGCTCAGCCCAGCGCAGGACAGGTCAGGCCAGGG
CTACTAAACTAATCTAACCTAAGCTATACTATTCTATCCTATGCTACACTACTCTACCCTACGCTAGACTAGTCTAGCCTAGG
CTTCTTAACTTATCTTACCTTAGCTTTACTTTTCTTTCCTTTGCTTCACTTCTCTTCCCTTCGCTTGACTTGTCTTGCCTTGG
CTCCTCAACTCATCTCACCTCAGCTCTACTCTTCTCTCCTCTGCTCCACTCCTCTCCCCTCCGCTCGACTCGTCTCGCCTCGG
CTGCTGAACTGATCTGACCTGAGCTGTACTGTTCTGTCCTGTGCTGCACTGCTCTGCCCTGCGCTGGACTGGTCTGGCCTGGG
CCACCAAACCAATCCAACCCAAGCCATACCATTCCATCCCATGCCACACCACTCCACCCCACGCCAGACCAGTCCAGCCCAGG
CCTCCTAACCTATCCTACCCTAGCCTTACCTTTCCTTCCCTTGCCTCACCTCTCCTCCCCTCGCCTGACCTGTCCTGCCCTGG
CCCCCCAACCCATCCCACCCCAGCCCTACCCTTCCCTCCCCTGCCCCACCCCTCCCCCCCCCGCCCGACCCGTCCCGCCCCGG
CCGCCGAACCGATCCGACCCGAGCCGTACCGTTCCGTCCCGTGCCGCACCGCTCCGCCCCGCGCCGGACCGGTCCGGCCCGGG
CGACGAAACGAATCGAACCGAAGCGATACGATTCGATCCGATGCGACACGACTCGACCCGACGCGAGACGAGTCGAGCCGAGG
CGTCGTAACGTATCGTACCGTAGCGTTACGTTTCGTTCCGTTGCGTCACGTCTCGTCCCGTCGCGTGACGTGTCGTGCCGTGG
CGCCGCAACGCATCGCACCGCAGCGCTACGCTTCGCTCCGCTGCGCCACGCCTCGCCCCGCCGCGCGACGCGTCGCGCCGCGG
CGGCGGAACGGATCGGACCGGAGCGGTACGGTTCGGTCCGGTGCGGCACGGCTCGGCCCGGCGCGGGACGGGTCGGGCCGGGG
GAAGAAAAGAAATGAAACGAAAGGAATAGAATTGAATCGAATGGAACAGAACTGAACCGAACGGAAGAGAAGTGAAGCGAAGG
GATGATAAGATATGATACGATAGGATTAGATTTGATTCGATTGGATCAGATCTGATCCGATCGGATGAGATGTGATGCGATGG
GACGACAAGACATGACACGACAGGACTAGACTTGACTCGACTGGACCAGACCTGACCCGACCGGACGAGACGTGACGCGACGG
GAGGAGAAGAGATGAGACGAGAGGAGTAGAGTTGAGTCGAGTGGAGCAGAGCTGAGCCGAGCGGAGGAGAGGTGAGGCGAGGG
GTAGTAAAGTAATGTAACGTAAGGTATAGTATTGTATCGTATGGTACAGTACTGTACCGTACGGTAGAGTAGTGTAGCGTAGG
GTTGTTAAGTTATGTTACGTTAGGTTTAGTTTTGTTTCGTTTGGTTCAGTTCTGTTCCGTTCGGTTGAGTTGTGTTGCGTTGG
GTCGTCAAGTCATGTCACGTCAGGTCTAGTCTTGTCTCGTCTGGTCCAGTCCTGTCCCGTCCGGTCGAGTCGTGTCGCGTCGG
GTGGTGAAGTGATGTGACGTGAGGTGTAGTGTTGTGTCGTGTGGTGCAGTGCTGTGCCGTGCGGTGGAGTGGTGTGGCGTGGG
GCAGCAAAGCAATGCAACGCAAGGCATAGCATTGCATCGCATGGCACAGCACTGCACCGCACGGCAGAGCAGTGCAGCGCAGG
GCTGCTAAGCTATGCTACGCTAGGCTTAGCTTTGCTTCGCTTGGCTCAGCTCTGCTCCGCTCGGCTGAGCTGTGCTGCGCTGG
GCCGCCAAGCCATGCCACGCCAGGCCTAGCCTTGCCTCGCCTGGCCCAGCCCTGCCCCGCCCGGCCGAGCCGTGCCGCGCCGG
GCGGCGAAGCGATGCGACGCGAGGCGTAGCGTTGCGTCGCGTGGCGCAGCGCTGCGCCGCGCGGCGGAGCGGTGCGGCGCGGG
GGAGGAAAGGAATGGAACGGAAGGGATAGGATTGGATCGGATGGGACAGGACTGGACCGGACGGGAGAGGAGTGGAGCGGAGG
GGTGGTAAGGTATGGTACGGTAGGGTTAGGTTTGGTTCGGTTGGGTCAGGTCTGGTCCGGTCGGGTGAGGTGTGGTGCGGTGG
GGCGGCAAGGCATGGCACGGCAGGGCTAGGCTTGGCTCGGCTGGGCCAGGCCTGGCCCGGCCGGGCGAGGCGTGGCGCGGCGG
GGGGGGAAGGGATGGGACGGGAGGGGTAGGGTTGGGTCGGGTGGGGCAGGGCTGGGCCGGGCGGGGGAGGGGTGGGGCGGGGG
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After filtering
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After filtering: read1: quality
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Value of each position will be shown on mouse over.
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After filtering: read1: base contents
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Value of each position will be shown on mouse over.
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After filtering: read1: KMER counting
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Darker background means larger counts. The count will be shown on mouse over.
- - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
AAATACAGTATTTCTGCACTCCCGGAGTGCGG
AAAAAAAAAAAATAAAACAAAAGAAATAAAATTAAATCAAATGAAACAAAACTAAACCAAACGAAAGAAAAGTAAAGCAAAGG
AATAATAAAATATAATACAATAGAATTAAATTTAATTCAATTGAATCAAATCTAATCCAATCGAATGAAATGTAATGCAATGG
AACAACAAAACATAACACAACAGAACTAAACTTAACTCAACTGAACCAAACCTAACCCAACCGAACGAAACGTAACGCAACGG
AAGAAGAAAAGATAAGACAAGAGAAGTAAAGTTAAGTCAAGTGAAGCAAAGCTAAGCCAAGCGAAGGAAAGGTAAGGCAAGGG
ATAATAAAATAATATAACATAAGATATAATATTATATCATATGATACAATACTATACCATACGATAGAATAGTATAGCATAGG
ATTATTAAATTATATTACATTAGATTTAATTTTATTTCATTTGATTCAATTCTATTCCATTCGATTGAATTGTATTGCATTGG
ATCATCAAATCATATCACATCAGATCTAATCTTATCTCATCTGATCCAATCCTATCCCATCCGATCGAATCGTATCGCATCGG
ATGATGAAATGATATGACATGAGATGTAATGTTATGTCATGTGATGCAATGCTATGCCATGCGATGGAATGGTATGGCATGGG
ACAACAAAACAATACAACACAAGACATAACATTACATCACATGACACAACACTACACCACACGACAGAACAGTACAGCACAGG
ACTACTAAACTATACTACACTAGACTTAACTTTACTTCACTTGACTCAACTCTACTCCACTCGACTGAACTGTACTGCACTGG
ACCACCAAACCATACCACACCAGACCTAACCTTACCTCACCTGACCCAACCCTACCCCACCCGACCGAACCGTACCGCACCGG
ACGACGAAACGATACGACACGAGACGTAACGTTACGTCACGTGACGCAACGCTACGCCACGCGACGGAACGGTACGGCACGGG
AGAAGAAAAGAATAGAACAGAAGAGATAAGATTAGATCAGATGAGACAAGACTAGACCAGACGAGAGAAGAGTAGAGCAGAGG
AGTAGTAAAGTATAGTACAGTAGAGTTAAGTTTAGTTCAGTTGAGTCAAGTCTAGTCCAGTCGAGTGAAGTGTAGTGCAGTGG
AGCAGCAAAGCATAGCACAGCAGAGCTAAGCTTAGCTCAGCTGAGCCAAGCCTAGCCCAGCCGAGCGAAGCGTAGCGCAGCGG
AGGAGGAAAGGATAGGACAGGAGAGGTAAGGTTAGGTCAGGTGAGGCAAGGCTAGGCCAGGCGAGGGAAGGGTAGGGCAGGGG
TAATAAAATAAATTAAACTAAAGTAATATAATTTAATCTAATGTAACATAACTTAACCTAACGTAAGATAAGTTAAGCTAAGG
TATTATAATATATTATACTATAGTATTATATTTTATTCTATTGTATCATATCTTATCCTATCGTATGATATGTTATGCTATGG
TACTACAATACATTACACTACAGTACTATACTTTACTCTACTGTACCATACCTTACCCTACCGTACGATACGTTACGCTACGG
TAGTAGAATAGATTAGACTAGAGTAGTATAGTTTAGTCTAGTGTAGCATAGCTTAGCCTAGCGTAGGATAGGTTAGGCTAGGG
TTATTAAATTAATTTAACTTAAGTTATATTATTTTATCTTATGTTACATTACTTTACCTTACGTTAGATTAGTTTAGCTTAGG
TTTTTTAATTTATTTTACTTTAGTTTTATTTTTTTTTCTTTTGTTTCATTTCTTTTCCTTTCGTTTGATTTGTTTTGCTTTGG
TTCTTCAATTCATTTCACTTCAGTTCTATTCTTTTCTCTTCTGTTCCATTCCTTTCCCTTCCGTTCGATTCGTTTCGCTTCGG
TTGTTGAATTGATTTGACTTGAGTTGTATTGTTTTGTCTTGTGTTGCATTGCTTTGCCTTGCGTTGGATTGGTTTGGCTTGGG
TCATCAAATCAATTCAACTCAAGTCATATCATTTCATCTCATGTCACATCACTTCACCTCACGTCAGATCAGTTCAGCTCAGG
TCTTCTAATCTATTCTACTCTAGTCTTATCTTTTCTTCTCTTGTCTCATCTCTTCTCCTCTCGTCTGATCTGTTCTGCTCTGG
TCCTCCAATCCATTCCACTCCAGTCCTATCCTTTCCTCTCCTGTCCCATCCCTTCCCCTCCCGTCCGATCCGTTCCGCTCCGG
TCGTCGAATCGATTCGACTCGAGTCGTATCGTTTCGTCTCGTGTCGCATCGCTTCGCCTCGCGTCGGATCGGTTCGGCTCGGG
TGATGAAATGAATTGAACTGAAGTGATATGATTTGATCTGATGTGACATGACTTGACCTGACGTGAGATGAGTTGAGCTGAGG
TGTTGTAATGTATTGTACTGTAGTGTTATGTTTTGTTCTGTTGTGTCATGTCTTGTCCTGTCGTGTGATGTGTTGTGCTGTGG
TGCTGCAATGCATTGCACTGCAGTGCTATGCTTTGCTCTGCTGTGCCATGCCTTGCCCTGCCGTGCGATGCGTTGCGCTGCGG
TGGTGGAATGGATTGGACTGGAGTGGTATGGTTTGGTCTGGTGTGGCATGGCTTGGCCTGGCGTGGGATGGGTTGGGCTGGGG
CAACAAAACAAATCAAACCAAAGCAATACAATTCAATCCAATGCAACACAACTCAACCCAACGCAAGACAAGTCAAGCCAAGG
CATCATAACATATCATACCATAGCATTACATTTCATTCCATTGCATCACATCTCATCCCATCGCATGACATGTCATGCCATGG
CACCACAACACATCACACCACAGCACTACACTTCACTCCACTGCACCACACCTCACCCCACCGCACGACACGTCACGCCACGG
CAGCAGAACAGATCAGACCAGAGCAGTACAGTTCAGTCCAGTGCAGCACAGCTCAGCCCAGCGCAGGACAGGTCAGGCCAGGG
CTACTAAACTAATCTAACCTAAGCTATACTATTCTATCCTATGCTACACTACTCTACCCTACGCTAGACTAGTCTAGCCTAGG
CTTCTTAACTTATCTTACCTTAGCTTTACTTTTCTTTCCTTTGCTTCACTTCTCTTCCCTTCGCTTGACTTGTCTTGCCTTGG
CTCCTCAACTCATCTCACCTCAGCTCTACTCTTCTCTCCTCTGCTCCACTCCTCTCCCCTCCGCTCGACTCGTCTCGCCTCGG
CTGCTGAACTGATCTGACCTGAGCTGTACTGTTCTGTCCTGTGCTGCACTGCTCTGCCCTGCGCTGGACTGGTCTGGCCTGGG
CCACCAAACCAATCCAACCCAAGCCATACCATTCCATCCCATGCCACACCACTCCACCCCACGCCAGACCAGTCCAGCCCAGG
CCTCCTAACCTATCCTACCCTAGCCTTACCTTTCCTTCCCTTGCCTCACCTCTCCTCCCCTCGCCTGACCTGTCCTGCCCTGG
CCCCCCAACCCATCCCACCCCAGCCCTACCCTTCCCTCCCCTGCCCCACCCCTCCCCCCCCCGCCCGACCCGTCCCGCCCCGG
CCGCCGAACCGATCCGACCCGAGCCGTACCGTTCCGTCCCGTGCCGCACCGCTCCGCCCCGCGCCGGACCGGTCCGGCCCGGG
CGACGAAACGAATCGAACCGAAGCGATACGATTCGATCCGATGCGACACGACTCGACCCGACGCGAGACGAGTCGAGCCGAGG
CGTCGTAACGTATCGTACCGTAGCGTTACGTTTCGTTCCGTTGCGTCACGTCTCGTCCCGTCGCGTGACGTGTCGTGCCGTGG
CGCCGCAACGCATCGCACCGCAGCGCTACGCTTCGCTCCGCTGCGCCACGCCTCGCCCCGCCGCGCGACGCGTCGCGCCGCGG
CGGCGGAACGGATCGGACCGGAGCGGTACGGTTCGGTCCGGTGCGGCACGGCTCGGCCCGGCGCGGGACGGGTCGGGCCGGGG
GAAGAAAAGAAATGAAACGAAAGGAATAGAATTGAATCGAATGGAACAGAACTGAACCGAACGGAAGAGAAGTGAAGCGAAGG
GATGATAAGATATGATACGATAGGATTAGATTTGATTCGATTGGATCAGATCTGATCCGATCGGATGAGATGTGATGCGATGG
GACGACAAGACATGACACGACAGGACTAGACTTGACTCGACTGGACCAGACCTGACCCGACCGGACGAGACGTGACGCGACGG
GAGGAGAAGAGATGAGACGAGAGGAGTAGAGTTGAGTCGAGTGGAGCAGAGCTGAGCCGAGCGGAGGAGAGGTGAGGCGAGGG
GTAGTAAAGTAATGTAACGTAAGGTATAGTATTGTATCGTATGGTACAGTACTGTACCGTACGGTAGAGTAGTGTAGCGTAGG
GTTGTTAAGTTATGTTACGTTAGGTTTAGTTTTGTTTCGTTTGGTTCAGTTCTGTTCCGTTCGGTTGAGTTGTGTTGCGTTGG
GTCGTCAAGTCATGTCACGTCAGGTCTAGTCTTGTCTCGTCTGGTCCAGTCCTGTCCCGTCCGGTCGAGTCGTGTCGCGTCGG
GTGGTGAAGTGATGTGACGTGAGGTGTAGTGTTGTGTCGTGTGGTGCAGTGCTGTGCCGTGCGGTGGAGTGGTGTGGCGTGGG
GCAGCAAAGCAATGCAACGCAAGGCATAGCATTGCATCGCATGGCACAGCACTGCACCGCACGGCAGAGCAGTGCAGCGCAGG
GCTGCTAAGCTATGCTACGCTAGGCTTAGCTTTGCTTCGCTTGGCTCAGCTCTGCTCCGCTCGGCTGAGCTGTGCTGCGCTGG
GCCGCCAAGCCATGCCACGCCAGGCCTAGCCTTGCCTCGCCTGGCCCAGCCCTGCCCCGCCCGGCCGAGCCGTGCCGCGCCGG
GCGGCGAAGCGATGCGACGCGAGGCGTAGCGTTGCGTCGCGTGGCGCAGCGCTGCGCCGCGCGGCGGAGCGGTGCGGCGCGGG
GGAGGAAAGGAATGGAACGGAAGGGATAGGATTGGATCGGATGGGACAGGACTGGACCGGACGGGAGAGGAGTGGAGCGGAGG
GGTGGTAAGGTATGGTACGGTAGGGTTAGGTTTGGTTCGGTTGGGTCAGGTCTGGTCCGGTCGGGTGAGGTGTGGTGCGGTGG
GGCGGCAAGGCATGGCACGGCAGGGCTAGGCTTGGCTCGGCTGGGCCAGGCCTGGCCCGGCCGGGCGAGGCGTGGCGCGGCGG
GGGGGGAAGGGATGGGACGGGAGGGGTAGGGTTGGGTCGGGTGGGGCAGGGCTGGGCCGGGCGGGGGAGGGGTGGGGCGGGGG
-
-
-
- -

- \ No newline at end of file diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/reads/s001_preproc_report.json b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/reads/s001_preproc_report.json deleted file mode 100644 index 220f6ed..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/reads/s001_preproc_report.json +++ /dev/null @@ -1,217 +0,0 @@ -{ - "summary": { - "fastp_version": "0.23.4", - "sequencing": "single end (302 cycles)", - "before_filtering": { - "total_reads":25000, - "total_bases":6805951, - "q20_bases":6681168, - "q30_bases":6441704, - "q20_rate":0.981666, - "q30_rate":0.946481, - "read1_mean_length":272, - "gc_content":0.557488 - }, - "after_filtering": { - "total_reads":24997, - "total_bases":6805560, - "q20_bases":6680849, - "q30_bases":6441430, - "q20_rate":0.981675, - "q30_rate":0.946495, - "read1_mean_length":272, - "gc_content":0.557491 - } - }, - "filtering_result": { - "passed_filter_reads": 24997, - "low_quality_reads": 0, - 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"GGAAA":6547, "GGAAT":3772, "GGAAC":4807, "GGAAG":11087, "GGATA":2804, "GGATT":2584, "GGATC":2777, "GGATG":5546, "GGACA":9466, "GGACT":7692, "GGACC":8447, "GGACG":6805, "GGAGA":8604, "GGAGT":5906, "GGAGC":12700, "GGAGG":17994, - "GGTAA":3244, "GGTAT":2700, "GGTAC":1651, "GGTAG":3751, "GGTTA":1479, "GGTTT":9973, "GGTTC":4138, "GGTTG":3721, "GGTCA":5239, "GGTCT":10142, "GGTCC":8056, "GGTCG":4207, "GGTGA":7995, "GGTGT":7327, "GGTGC":12950, "GGTGG":13396, - "GGCAA":7736, "GGCAT":4090, "GGCAC":8577, "GGCAG":13276, "GGCTA":3178, "GGCTT":14664, "GGCTC":10003, "GGCTG":21569, "GGCCA":11212, "GGCCT":11394, "GGCCC":18105, "GGCCG":12528, "GGCGA":3965, "GGCGT":7142, "GGCGC":13516, "GGCGG":15454, - "GGGAA":8766, "GGGAT":4695, "GGGAC":12946, "GGGAG":12238, "GGGTA":3185, "GGGTT":9931, "GGGTC":7684, "GGGTG":13529, "GGGCA":11333, "GGGCT":19161, "GGGCC":17652, "GGGCG":8976, "GGGGA":14176, "GGGGT":9595, "GGGGC":18023, "GGGGG":12625 - }, - "overrepresented_sequences": { - } - }, - "command": "fastp --thread 30 --in1 .tests/integration/data/reads/LNCaP_001_25K.fq --out1 results/indel-test_SE/rnaseq/reads/s001_preproc.fq.gz --failed_out results/indel-test_SE/rnaseq/reads/s001_preproc_failed.fq.gz --json results/indel-test_SE/rnaseq/reads/s001_preproc_report.json --html results/indel-test_SE/rnaseq/reads/s001_preproc_report.html " -} \ No newline at end of file diff --git a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/reads/s001_readgroups.txt b/.tests/integration/indel-test/results/indel-test_SE/rnaseq/reads/s001_readgroups.txt deleted file mode 100644 index bf807af..0000000 --- a/.tests/integration/indel-test/results/indel-test_SE/rnaseq/reads/s001_readgroups.txt +++ /dev/null @@ -1 +0,0 @@ -@RG ID:s001 PL:unknown PU:unknown LB:unknown SM:unknown diff --git a/.tests/integration/indel-test/results/indel-test_SE/variants/long.indels.vcf.gz b/.tests/integration/indel-test/results/indel-test_SE/variants/long.indels.vcf.gz deleted file mode 100644 index 3af11a6..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/variants/long.indels.vcf.gz and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/variants/long.indels.vcf.gz.tbi b/.tests/integration/indel-test/results/indel-test_SE/variants/long.indels.vcf.gz.tbi deleted file mode 100644 index b9e0990..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/variants/long.indels.vcf.gz.tbi and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/variants/somatic.short.indels.vcf.gz b/.tests/integration/indel-test/results/indel-test_SE/variants/somatic.short.indels.vcf.gz deleted file mode 100644 index af2dd17..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/variants/somatic.short.indels.vcf.gz and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/variants/somatic.short.indels.vcf.gz.tbi b/.tests/integration/indel-test/results/indel-test_SE/variants/somatic.short.indels.vcf.gz.tbi deleted file mode 100644 index 8b98d38..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/variants/somatic.short.indels.vcf.gz.tbi and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/variants/somatic.snvs.vcf.gz b/.tests/integration/indel-test/results/indel-test_SE/variants/somatic.snvs.vcf.gz deleted file mode 100644 index 7a94008..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/variants/somatic.snvs.vcf.gz and /dev/null differ diff --git a/.tests/integration/indel-test/results/indel-test_SE/variants/somatic.snvs.vcf.gz.tbi b/.tests/integration/indel-test/results/indel-test_SE/variants/somatic.snvs.vcf.gz.tbi deleted file mode 100644 index c48415e..0000000 Binary files a/.tests/integration/indel-test/results/indel-test_SE/variants/somatic.snvs.vcf.gz.tbi and /dev/null differ